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
|
|---|---|---|---|---|---|
Regarding the variant found on chromosome 22 at position 20993715 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
CCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAG
|
CCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCT
|
pathogenic
| 323,123 |
Chromosome 22, position 20993940, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['LZTR1-related_schwannomatosis', 'Noonan_syndrome_10', 'Noonan_syndrome_2']
|
CACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCC
|
CACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTC
|
pathogenic
| 323,142 |
Considering the variant on chromosome 22, location 20993960, involving gene LZTR1 (leucine zipper like post translational regulator 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCA
|
TGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCAAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAN
|
pathogenic
| 323,146 |
Classify the chromosome 22 variant at position 20993995 affecting gene LZTR1 (leucine zipper like post translational regulator 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
CAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCA
|
CAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAN
|
pathogenic
| 323,156 |
Evaluate if the mutation on chromosome 22 at position 20994122 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
AGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACC
|
AGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCAC
|
pathogenic
| 323,175 |
The mutation impacting LZTR1 (leucine zipper like post translational regulator 1) on chromosome 22 at position 20994184: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCT
|
GCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTN
|
pathogenic
| 323,185 |
Assess the variant on chromosome 22, position 20994221, impacting LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
CTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTG
|
CTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGN
|
pathogenic
| 323,190 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20994253—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Noonan_syndrome_2']
|
CCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGG
|
CCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGN
|
pathogenic
| 323,194 |
Evaluate if the mutation on chromosome 22 at position 20994263 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Noonan_syndrome_2']
|
TTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGC
|
TTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCN
|
pathogenic
| 323,197 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20994276—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
AGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAG
|
AGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGNNNNNNNNNN
|
benign
| 323,203 |
Benign or pathogenic: chromosome 22, position 20994556, gene LZTR1 (leucine zipper like post translational regulator 1) variant? Disease(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
GGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGG
|
GGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCCCGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGG
|
pathogenic
| 323,209 |
Does the variant impacting LZTR1 (leucine zipper like post translational regulator 1) on chromosome 22, position 20994621, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
CTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCT
|
CTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTN
|
pathogenic
| 323,221 |
Evaluate if the mutation on chromosome 22 at position 20994674 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Noonan_syndrome_10', 'Noonan_syndrome_2', 'Schwannomatosis']
|
TACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACT
|
TACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTNN
|
pathogenic
| 323,235 |
Is the variant located on chromosome 22 at position 20994681, gene LZTR1 (leucine zipper like post translational regulator 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTT
|
TCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTN
|
pathogenic
| 323,238 |
Benign or pathogenic: chromosome 22, position 20994691, gene LZTR1 (leucine zipper like post translational regulator 1) variant? Disease(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Schwannomatosis']
|
GTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAAC
|
GTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACNN
|
pathogenic
| 323,240 |
Variant on chromosome 22, at position 20994692, affecting LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'RASopathy']
|
TCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACC
|
TCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAAC
|
pathogenic
| 323,241 |
Variant at chromosome 22, position 20994735, gene LZTR1 (leucine zipper like post translational regulator 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
GCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGAC
|
GCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCA
|
benign
| 323,251 |
Is the chromosome 22, position 20994868 variant in LZTR1 (leucine zipper like post translational regulator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCA
|
GGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGG
|
pathogenic
| 323,255 |
Evaluate if the mutation on chromosome 22 at position 20994884 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
GACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGC
|
GACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCN
|
pathogenic
| 323,257 |
Assess the variant on chromosome 22, position 20994889, impacting LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
CATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGC
|
CATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCN
|
pathogenic
| 323,259 |
Regarding the variant found on chromosome 22 at position 20994925 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
CCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGG
|
CCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGN
|
pathogenic
| 323,265 |
Determine if the mutation at chromosome 22, position 20994945 in gene LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
GGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGG
|
GGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 323,268 |
For chromosome 22, position 20994946, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGA
|
GTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGANN
|
pathogenic
| 323,269 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 20994970, gene LZTR1 (leucine zipper like post translational regulator 1): what disease(s) if pathogenic?
|
pathogenic
|
CTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCA
|
CTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGAGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGC
|
pathogenic
| 323,273 |
The genetic variant at chromosome 22, position 20994975, affecting gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['LZTR1-related_schwannomatosis']
|
GAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCC
|
GAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCN
|
pathogenic
| 323,275 |
Variant at chromosome 22, position 20994989, gene LZTR1 (leucine zipper like post translational regulator 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTG
|
GACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGNN
|
pathogenic
| 323,279 |
Does the variant on chromosome 22 at location 20995023 affecting gene LZTR1 (leucine zipper like post translational regulator 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCC
|
TTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCN
|
pathogenic
| 323,282 |
A genetic variant on chromosome 22, position 20995801, affects the gene LZTR1 (leucine zipper like post translational regulator 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Noonan_syndrome_2']
|
AGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGC
|
AGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCNN
|
pathogenic
| 323,309 |
Variant chromosome 22, position 20995811, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Disease(s)?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Noonan_syndrome_10', 'Noonan_syndrome_2']
|
CTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCC
|
CTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCNN
|
pathogenic
| 323,311 |
Benign or pathogenic: chromosome 22, position 20995975, gene LZTR1 (leucine zipper like post translational regulator 1) variant? Disease(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGG
|
GAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGNN
|
pathogenic
| 323,326 |
The chromosome 22, position 20995980 genetic variant in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCG
|
GTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGN
|
pathogenic
| 323,327 |
Clinical significance of chromosome 22, position 20996018, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['LZTR1-related_disorder']
|
GCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGC
|
GCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTG
|
pathogenic
| 323,333 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 20996066, gene LZTR1 (leucine zipper like post translational regulator 1): what disease(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
AGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTA
|
AGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCT
|
pathogenic
| 323,343 |
Is chromosome 22, position 20996078, gene LZTR1 (leucine zipper like post translational regulator 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACAC
|
TAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTAACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACA
|
pathogenic
| 323,347 |
Regarding the variant found on chromosome 22 at position 20996702 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
AGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGA
|
AGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGAN
|
pathogenic
| 323,367 |
Variant in gene LZTR1 (leucine zipper like post translational regulator 1), located at chromosome 22 position 20996709: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Noonan_syndrome_1']
|
CGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCA
|
CGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAN
|
pathogenic
| 323,368 |
Determine if the mutation at chromosome 22, position 20996714 in gene LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
ACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACC
|
ACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCNNNN
|
pathogenic
| 323,370 |
Classify the chromosome 22 variant at position 20996777 affecting gene LZTR1 (leucine zipper like post translational regulator 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGG
|
TGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGGN
|
pathogenic
| 323,390 |
Chromosome 22, position 20996778, gene LZTR1 (leucine zipper like post translational regulator 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGGG
|
GTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGG
|
pathogenic
| 323,391 |
Evaluate this variant at chromosome 22, position 20996906, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Noonan_syndrome_2']
|
TGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGGGCCACACACCCATCTACCCAGTTTCCACAAGATGTGGCTCCTGCCACACCCACAGGGCAGCCTCCTCCAAATCCCTCCTGGAGGGGCCTACCCAGAAGCCTCCTTGAACCAGTCTGCAACCCTGCTCTA
|
TGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGGGCCACACACCCATCTACCCAGTTTCCACAAGATGTGGCTCCTGCCACACCCACAGGGCAGCCTCCTCCAAATCCCTCCTGGAGGGGCCTACCCAGAAGCCTCCTTGAACCAGTCTGCAACCCTGCTCTANNNN
|
pathogenic
| 323,405 |
Does the genetic variant at chromosome 22, position 20996964, impacting gene LZTR1 (leucine zipper like post translational regulator 1), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic
|
TGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGGGCCACACACCCATCTACCCAGTTTCCACAAGATGTGGCTCCTGCCACACCCACAGGGCAGCCTCCTCCAAATCCCTCCTGGAGGGGCCTACCCAGAAGCCTCCTTGAACCAGTCTGCAACCCTGCTCTATGCTGACCCTTGTCACTGAACCCTGATCTAGACTTATATGAATAAATGAAATTACATG
|
TGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCTTGGGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGGGCCACACACCCATCTACCCAGTTTCCACAAGATGTGGCTCCTGCCACACCCACAGGGCAGCCTCCTCCAAATCCCTCCTGGAGGGGCCTACCCAGAAGCCTCCTTGAACCAGTCTGCAACCCTGCTCTATGCTGACCCTTGTCACTGAACCCTGATCTAGACTTATATGAATAAATGAAATTACA
|
pathogenic
| 323,415 |
Evaluate this variant at chromosome 22, position 20997225, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
AAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGGGCCACACACCCATCTACCCAGTTTCCACAAGATGTGGCTCCTGCCACACCCACAGGGCAGCCTCCTCCAAATCCCTCCTGGAGGGGCCTACCCAGAAGCCTCCTTGAACCAGTCTGCAACCCTGCTCTATGCTGACCCTTGTCACTGAACCCTGATCTAGACTTATATGAATAAATGAAATTACATGCCAAGGGCCCTAAAAAGCAAATTTTACGAAATTGTGTGGCAGTTTCTGGGACTAGAATGAATTTCATTTGTGCTCCTCGGCAGGGAGAGGCCATACTTGCAGTGAGTCACCCCAAGACGGAGCTGTTTGAGAACTGCAGCTGCAGCAAGGCCTTCCAGGTTCCTGGGAGTTGAAGGAAAAGGATGCTGAGGCCAGGACCTGAGTGCTTGTCTCCATGTTCTGGCCACCTCTTCCTAGATTTCCAGGGACTAGCTTGTTGGG
|
AAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGGGCCACACACCCATCTACCCAGTTTCCACAAGATGTGGCTCCTGCCACACCCACAGGGCAGCCTCCTCCAAATCCCTCCTGGAGGGGCCTACCCAGAAGCCTCCTTGAACCAGTCTGCAACCCTGCTCTATGCTGACCCTTGTCACTGAACCCTGATCTAGACTTATATGAATAAATGAAATTACATGCCAAGGGCCCTAAAAAGCAAATTTTACGAAATTGTGTGGCAGTTTCTGGGACTAGAATGAATTTCATTTGTGCTCCTCGGCAGGGAGAGGCCATACTTGCAGTGAGTCACCCCAAGACGGAGCTGTTTGAGAACTGCAGCTGCAGCAAGGCCTTCCAGGTTCCTGGGAGTTGAAGGAAAAGGATGCTGAGGCCAGGACCTGAGTGCTTGTCTCCATGTTCTGGCCACCTCTTCCTAGATTTCCAGGGACTAGCTTGTTGG
|
benign
| 323,418 |
Evaluate if the mutation on chromosome 22 at position 20997235 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic
|
AGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGGGCCACACACCCATCTACCCAGTTTCCACAAGATGTGGCTCCTGCCACACCCACAGGGCAGCCTCCTCCAAATCCCTCCTGGAGGGGCCTACCCAGAAGCCTCCTTGAACCAGTCTGCAACCCTGCTCTATGCTGACCCTTGTCACTGAACCCTGATCTAGACTTATATGAATAAATGAAATTACATGCCAAGGGCCCTAAAAAGCAAATTTTACGAAATTGTGTGGCAGTTTCTGGGACTAGAATGAATTTCATTTGTGCTCCTCGGCAGGGAGAGGCCATACTTGCAGTGAGTCACCCCAAGACGGAGCTGTTTGAGAACTGCAGCTGCAGCAAGGCCTTCCAGGTTCCTGGGAGTTGAAGGAAAAGGATGCTGAGGCCAGGACCTGAGTGCTTGTCTCCATGTTCTGGCCACCTCTTCCTAGATTTCCAGGGACTAGCTTGTTGGGGCTTTACTAC
|
AGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAGCTGGGTGGAAGATGAGACGCTGGGTGGTGGGCTGTGCGTGGGGCATAGTGCTTGAGTCGGCCAGGGCGCCGAGGGAGGACAGAATGTGGCTGATGGTACCTCAGGGCGAGTGAGGCCTTCTGCCTGGGTGAAGTTTTGTTCAGGGCAGCAACATGGGCAGATATGCAGGAAGGTAGTGCCGTGGGGCCCCAAGGCCAGAATCCCAGGCTGTACCTGCTCAGGGACCCTCCTACCCCCAGGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGGGGAGGGTGGGCCTGGATGGTGTCTTCGTTCTGCTGACGGCCAGGTGCCTACCGCTCGTTGTCTGCAGCTACTTTGAAGCCATGTTCCGGTCCTTCATGCCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTCGAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCTGCATCCTCACTCCCCAGTGAACTCCCAGGTCCCCACCAAGGGGTCCTGGCACCCACCTCAGGTGGCTTTGAGGCCCGCTCTCCTGCCCCAGCTAGGTGATCTGGGCCCAGCGCCTCCCTCCAGAGGGTTTGCTGGTGCCTGGGGCTGGGCCTGGTGCTCTCTGAAGCAGTTGGCAGCTGGCAAGGAGGGGTTTGCAGCCAGGAGGAACCAGTGGGTTCCTGACCCTCACAACTGCCCAGAGGACGGGGTGGGTCATTGCTTTGTGTGACAGTTGAGCACAGACATGGAGGTACTCCTTATGTCACTTCAGTAGGGGTCTGAACATGGAGGGTCAGGATGCCTGTTAGGCCTGCAAGGCCATGGAACAGCGCTACAGATGTACAGACACTATTTTTCTCGGGAGGGGATTCATGGTTTTCTTTGGATCCTGAATGGGGCCTTTGACCCACTAAGTAGTTCAGAATCCATTTGGAGAGCATGCTGGCGTGGGGGCTTGGGGCTCCAGCTGCGCCCTTCCCTGTCCTTCCCTGGGAGGGTGCGGGCGGACCAGCTTCCTTTAGTCAGCTCCTTAACCAGGCCCCAGCTACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGCAAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAGGTAGCCCCCCAGCCCCGTGCACATGGCTGCAGCTCCCACTGAGTGGGTGAAAGGGGCAGCGCCTCAAGGTCCCTGCCATTGCAGATCCTGGAGGCAGCTGACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTCACCAAGGTCAGGGCTCTGGCCTCCCCTTCAGGACTCGCTTCCCCTTGGCAGTGGCCATGCCCAGGCAGGGAGGGTGCCCAGGCTCTGTGGTCCCCTGCAGTGGTGGGCCCTGGGGGTGAGAGAAGCAGAGCAGCCCATCACTGGCCGCACCTTGCTTCATCCTTGGGACCAGCCTGAGCCCTGAGCAGGGTAGGCCCCACAGGGCTCCACTGCCCACCATGGCCCTTAGGTGGATCTGGTCCCATCTCCTTCCGGCCTGCTTGCCTTACAGGTCTCCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATCATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATCTGAGGCCCTGTGGCGCCTGCCCATTGTGAAGAATCGCCGTGCCTGCCTGCCCTGCCTACTGAGAAGACTACCGGCTATGCGCATGCCTATGGCAGTGGGTGCACCTGCCAGGCCAAGGGTCAGGGTGCCCAGAGCCTCCAAAGAGAGCTGAGGGGATGTGGGGCCCCAAACTCATTAATTCACTGAAGACACAGGTCCCACAGGGAGCGGATGATGAAGCAGACCCCCTCCTGTCATCACCCTCTCCTGGTGTAGTGTGGATGCGAGGCCACGGCTCAGTGATGGGCTCACCACCCAGAAGTGGGGAGAGACTTTGGGCCTCCCACCCAGTGGGGCTTGGCCTGGCTTCTGTGGCCTGGGCGTGTTGTGGACTCAGGCACTGGGGCCTGTCACCAAGGCTCCTCCAACATGCGGGAGGAGGCTTAGCAGACTTGCGCTGCACCAGCGAATCTGCCTGGGCTGCTCCTGTCCCACCCACCCTCACTGAGATCCATGTAAGGGGCTCCTCTTCCCACCTGGAACTTGTGAGTGGGGACCCATGATGTATGGGTCTCACCTGACTTGAGGTGAATTTTGGAGTGAAGGGCCCTGAGGTCAGCTCCCAGGTCGGTCGTGCTGGGCCAGGCCTGGTTTTCACAGGGGCTGAAGGATCCCAGTCCACCTGTGTGCATGTCAGGGCTCGGCCGGGAAGAAGCCAGCAAAGTCCCCCGTGTCCCTTGCTGAGTATTCTGTCACAGACAAGCCTCCATTAAAGCCACAGCAGTGCTACCCACCACACACACCTTGCTGGCCCGGCCACCACTGCTGGCTTCAGCCCCTTGAGCAGCCCATGGCTTAGCAGACCCCCAGATGTAGGTCAGTGGCCTTACCTGTCTCTATCCATGCTGTCAACTCCTGCCTCCACCTGGGGTCACCCAGTCACATTGGGAAGGGCTGTGAAGGCCTCCAGGCTGGCCCCTTCCAGGGGAATCCTGGAGGCCTGGGGTGGGCTCCTGCCCCTTCTGCCCTGCCTTGCCCCTGCACTATGCTCTTGGCTCCTGTGGAAGGAGGGCTGCCCTCTTGCCCTAGTGAGGGCCCCATGTGGATCCACTCTAGTGCTGGGAGCCAGCGCTCCCTTACTGGGAACAGGATTCCAGGACCCCTTTCTTGTTGTGGCTGCCATGAAGCCACAGCTCCTTGGGGAAGTGACCTGCTCTCCTTTGGGTGTATGCAGGTGTGTGGGGGGCCCTGAGTGGCAAGTTGCTTAGCTAACAGGAGATCCATAGGCAGCCTGCAGGCTAGGAAGTGGCCTAGTGCAAGATGAGCTGGGAACAAGGGAGGAGAGAGCAGGAGCTGGGGCAGAGGCTGAGCCGGGAGGCCCTTGAGGTGAGGACACAGCAGGCCCAGGACCATGGCTGGGGAGGATATGTCAGCACCTGGAAGTGGAGTGCAGGCTGCAGCGCCCAGCCATGTGGGCCAGGTGCATTCACTCAGAGTGGGGCCACACACCCATCTACCCAGTTTCCACAAGATGTGGCTCCTGCCACACCCACAGGGCAGCCTCCTCCAAATCCCTCCTGGAGGGGCCTACCCAGAAGCCTCCTTGAACCAGTCTGCAACCCTGCTCTATGCTGACCCTTGTCACTGAACCCTGATCTAGACTTATATGAATAAATGAAATTACATGCCAAGGGCCCTAAAAAGCAAATTTTACGAAATTGTGTGGCAGTTTCTGGGACTAGAATGAATTTCATTTGTGCTCCTCGGCAGGGAGAGGCCATACTTGCAGTGAGTCACCCCAAGACGGAGCTGTTTGAGAACTGCAGCTGCAGCAAGGCCTTCCAGGTTCCTGGGAGTTGAAGGAAAAGGATGCTGAGGCCAGGACCTGAGTGCTTGTCTCCATGTTCTGGCCACCTCTTCCTAGATTTCCAGGGACTAGCTTGTTGGGGCTTTACTA
|
pathogenic
| 323,420 |
Is the genetic change at chromosome 22, position 23825219, within gene SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1) benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
TCTAGACTTTGGAATAAATGAATGTGTTAGTGACTGAATGGCAGGGGACAGGCAACTCCATCCATGAGCCCAGGGCAGGGAGGGCTTGCTGGGTGGGAGCCATGTGCCTATGGTCCTATGGGGTCCTGTTGGGTGGTTCCATGGGCTGTCTGCTGCTGCACGTTCTTTTTGGACCCAGCACCCACGTGGTTTGCTTGGCATTAGATTCCAGTTGGGAAGGGCCAGTGCCTCCGATTCCATTCATCATCAGGCGTGGGCGTATGTGGAGATAGCAAAGGACATGGGGGCCCGACTGCAGTCCCCATTGCCTGGCTGCATGCCGTGTACAGGACACTGCAGCTCTGCCCTCGGCTTCCTCCCTCTGCGTGAGGATTCCTTCATTCCCAGAACAAATACACCCTGCCTGTGCTAGAATTCCTGGAGGCAAATGATTCAGATTGTTTCAGACAGTCCTAAGTGCTGTGAAGAAAATAGGAGAGGTGCCAGCATGGTGGCCCGCACGTATAGTCGCAGCTACTCAGGAGACTCTCGGGGGAGGATCTTTTGAGGCCAGCCTGGGCCAACACAGAGAGGCAGCAGGGAAGCCTGCGGGGAACAGAAGGCTCAACCACAGGGTCTCTTCTCTGCCCAAAACACTTGATACATTGCCTGGGCCTTGTAGAAACCTTGTCTCTACAAAATATTAGCCAGACATGGTAGTGCATGTCCGTAGTTCCAGCTACTCAGGAGGCTGAGGCAGAAGGGTCTCTTGAGCCCAGGAGTTCAAGGCTGTAGTGAGTCATGATCATGCCATTGCACTCCAGCCTGAGTGACAGAGTGACATCCTGTCTCCAAAGGGGGAGAAAATGGAGAGAAGGGTGTGGAAAGGGGCTGATGGGAAGGGGAGCTCTCAGGAGCTGGCACTTTAGCTTAGACCAGGATGCTGAGAAGAGGCTGGTCCTGCCAGGTGAGGGGAAGAGCATTCTAGCAAGTGGGTGGTGATGTGCAGGGCTCAGAGGCACAGGGCTTTATGAACATGATCGGGGATTGGGGTACCCTAATCTCTAAAAGGAGGCAGAAGTCCCCGGAAGGGCTGGACTCCGAGGCAGTGGTGAGTTTTCCCTGCAGCTGCCCACCCTGATCCTTGACTTAAAAGCTAAGGGCCAACAATGAATGGGCAGGTGCACTGTGACCTGGTTGCCCTGTGGAGCACTGGATAGCAGTGAGGGATGACCCCAGCCCCACACTCTAATGGGAGGAGTCTTGCAAGCATGATGCAGAGTGAATGAACCTGGACCCCGAAGTGTCCATCCTATTCAGAACAGCCACACCTACTCAAGGGGTGAGAAGTCAAAATGGTGCCTCCCCAGGGGGGCAGGTGTAGGTGGGAGCCCCTGGGGTACAGTCTGTGTTCTCTCAGCTGGGTGCTGGCTTCCCAGGTGTCCACTAGTGGAAAACCCCTGACAGCACACCCGGGGCCTGGGCCCTCTGGCTGTGAGTCACGTGCTGCAGGGAGTCCTCTGGGGAATGTGGAGGAGCTGGCCCAGCACTGTGATCCCTGCAGGCTTCCCTGTCCCCTCACCGTGTTGACCCAGAGTGGGGTGCATCTGTGAACACGCTAGGCAGGGTTTTCCGAGAGGGGCAAGCTCTGTAAAGGGCATAGACATTGGCTCAAGACAGGGCTTAGGGATGCCTTAGCTGAGCCCTGCCTTTCTGGTGTAGTCACGTAAGACCGATGGCAGCAGGAGCGAAGGGCAGAAAGGAAGGTCCCCACCAGCACAGGGCACAGGGGAGATGGGATGAAGGTAAGGTGGGACTCAGGTGCCCCCGGGGTCACTTCAGGGCCTCCCGAGGGTGACTGTGCTGGGCCCTGAGCCAGAGCCCCTCATGGCAGACAGGGTTGTGGGGTCAGCCTTGTTTTGGGGATGGGGAACTGGAAGGACAAGGACCACCTGCAGTTCTCAGCTGGTGGACCCTGGTGGGCAGGGCCCACCCCAGGCCTGGCAGGGCCCCGCTCCTCGCGGCCTCCCTGGGCTGCAAAAGCTCTAACTTGTGTCCTTTGGTTGTTGCCTCAGCTGAACATCCATGTGGGAAACATTTCCCTGGTGGACCAGTTTGAGTGGGACATGTCAGAGAAGGAGAACTCACCAGAGAAGTTTGCCCTGAAGCTGTGCTCGGAGCTGGGGTTGGGCGGGGAGTTTGTCACCACCATCGCATACAGCATCCGGGGACAGCTGAGCTGGCATCAGAAGACCTACGCCTTCAGGTAGGATCATGCATGAGTCTCTCCCTCCCTCATCTCCCTGCAAAACTGTTTTGAGAAAGACTTCTCTGTGTGAGCGGTGATACCTTTGAGGCTTTCTCACGCTTCGCAGCACAATCTGGCTGGGGTCTGTGTGTTTGCTCCGTCCTCCTCCTGCCCTATGTATCTCTCCAGGGCTCCGCTGTGCCAGGTAGGGTTAGAAGCACCTAACACAATAGCTGGCAAAGACTTGGAGTTCTGTCAGGGTGAACCTCAAGTCCTTGCCTCCACGGAGCCCTGGCCTGCCCCCACCATCCACCATTCAGTTGTCCTGCCCCACACCCTCTCTCTCTGCTCTTGCCCAGACTGTTATTTTGGTCAGGGTGACCCCTGCCCAGGGTTCTTCATCTGTTGAACTTGAATTATGTCTTAAACACAAAGGCCCGCCCAGCTTTTGAGAGTCAGGGGTCCCTAGCAGCTCCTTCTTACTCTAGTATCTCTGCCTTTGGTCAGTCAGAGAGCATTTGATGAGTACCATGCTGGGCTGGACCCCATCCTGGCTGCCCTGGAAGATAGAGACAGGTCACCTTGATCCCTGCCTGTAGCATTTGGGCTGGCTGAGATGGTGGAAGTGTGAACAGAATATTCCAGTCCAGTGTCCTCTGTGGTAGGGATGGGGATGGACCCGGGAGAGGCCCTCCTGTTCCTGGCAGGAGGTGGGACTCAGAGTTAAAAGTGAGGTCAAGGCCCAGTGCGATGGCTCACACCTGCAGTCCTAGCACTTCGCGGAGCTGAGGTGGATCACCAGAACCCAGTAGTTCAAGACCAGCCTGGGAAAAACATGGTGAGACCCCACCTCTACAAAAAAAAAAAAATAGAAAAAATGAGCCGGGCATGTTGGTACATGCCTGTAGTTTCAGCTACTCAGGAAGCTGAGGTGGGAGGATCGCCTGAGCTCAAGAGGTGGAGGCTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAAAATAGCGAGGTTGAACTCTCCCGGCTCAGCAGGACTCTAGGACTGGGAAGCCCCGTGGTTCCTCACCCTGTCCTCTGTGTTGGGATGGGGTGGGGGTGCAGCAAGCATCCCTACATCAAAACAGGATGTTCAGATTTAGTCTGCTCATCAGACTATCATCATCCACATCTGCAGTCATCACTCAGGGATGACAGCTTAAAATGCTACATGAGGAGCAAATAGGAAGGTCTGTTTTGCAAAGCCATGACAATTAATGGAGCTCGTTAGGTTTGTGTCTAACTTGTTTTCCCAGACATCCCAAGAGACAGCTTTCTATGACTTCCCATAAATCTGAGCAAGGAAGAAGGAATGAGAGCCACCCACGGGGCTCAAGGGCCCGGGCCTGGGAAACAGCTGAGTCCCTGCCTGAGCGCCATGGTGCTGAGATCCTGTGACCTGCCCCCCAGCAGCCCTGCCAGTCACATGGTTCTGCTTCACAGACAGGGCAGCCCAGAGAGGAGGCTGGGGGGCTGGTGTCTGATGCCTCCCTGTTCCCTCGGGGTGTTGCCTGGGAGTGCAGCTGTAGCGTGCATTCACCCTGCACAGAGCCAAGCCCTATGGCCGGAGAGCCAGTCAAGGGTGGCCTCCCTCCACCAGAGTTGACTCTGAGGCCCCGGGAGGCAGTCATGTTGCGCGCATCAACACTGAGCACCTCCTCCCGCAGAGGCTGATCCAGTCAGAACCCTCGTCTTGGGCTCACAGGTGCAGGTGGTAGGCTGGCTGCCCCCAGCATCCAGCCCCTACGGTGTTGACCTTCACCTAGTCCTGCAGCCGCTGCCAGTGCCCA
|
TCTAGACTTTGGAATAAATGAATGTGTTAGTGACTGAATGGCAGGGGACAGGCAACTCCATCCATGAGCCCAGGGCAGGGAGGGCTTGCTGGGTGGGAGCCATGTGCCTATGGTCCTATGGGGTCCTGTTGGGTGGTTCCATGGGCTGTCTGCTGCTGCACGTTCTTTTTGGACCCAGCACCCACGTGGTTTGCTTGGCATTAGATTCCAGTTGGGAAGGGCCAGTGCCTCCGATTCCATTCATCATCAGGCGTGGGCGTATGTGGAGATAGCAAAGGACATGGGGGCCCGACTGCAGTCCCCATTGCCTGGCTGCATGCCGTGTACAGGACACTGCAGCTCTGCCCTCGGCTTCCTCCCTCTGCGTGAGGATTCCTTCATTCCCAGAACAAATACACCCTGCCTGTGCTAGAATTCCTGGAGGCAAATGATTCAGATTGTTTCAGACAGTCCTAAGTGCTGTGAAGAAAATAGGAGAGGTGCCAGCATGGTGGCCCGCACGTATAGTCGCAGCTACTCAGGAGACTCTCGGGGGAGGATCTTTTGAGGCCAGCCTGGGCCAACACAGAGAGGCAGCAGGGAAGCCTGCGGGGAACAGAAGGCTCAACCACAGGGTCTCTTCTCTGCCCAAAACACTTGATACATTGCCTGGGCCTTGTAGAAACCTTGTCTCTACAAAATATTAGCCAGACATGGTAGTGCATGTCCGTAGTTCCAGCTACTCAGGAGGCTGAGGCAGAAGGGTCTCTTGAGCCCAGGAGTTCAAGGCTGTAGTGAGTCATGATCATGCCATTGCACTCCAGCCTGAGTGACAGAGTGACATCCTGTCTCCAAAGGGGGAGAAAATGGAGAGAAGGGTGTGGAAAGGGGCTGATGGGAAGGGGAGCTCTCAGGAGCTGGCACTTTAGCTTAGACCAGGATGCTGAGAAGAGGCTGGTCCTGCCAGGTGAGGGGAAGAGCATTCTAGCAAGTGGGTGGTGATGTGCAGGGCTCAGAGGCACAGGGCTTTATGAACATGATCGGGGATTGGGGTACCCTAATCTCTAAAAGGAGGCAGAAGTCCCCGGAAGGGCTGGACTCCGAGGCAGTGGTGAGTTTTCCCTGCAGCTGCCCACCCTGATCCTTGACTTAAAAGCTAAGGGCCAACAATGAATGGGCAGGTGCACTGTGACCTGGTTGCCCTGTGGAGCACTGGATAGCAGTGAGGGATGACCCCAGCCCCACACTCTAATGGGAGGAGTCTTGCAAGCATGATGCAGAGTGAATGAACCTGGACCCCGAAGTGTCCATCCTATTCAGAACAGCCACACCTACTCAAGGGGTGAGAAGTCAAAATGGTGCCTCCCCAGGGGGGCAGGTGTAGGTGGGAGCCCCTGGGGTACAGTCTGTGTTCTCTCAGCTGGGTGCTGGCTTCCCAGGTGTCCACTAGTGGAAAACCCCTGACAGCACACCCGGGGCCTGGGCCCTCTGGCTGTGAGTCACGTGCTGCAGGGAGTCCTCTGGGGAATGTGGAGGAGCTGGCCCAGCACTGTGATCCCTGCAGGCTTCCCTGTCCCCTCACCGTGTTGACCCAGAGTGGGGTGCATCTGTGAACACGCTAGGCAGGGTTTTCCGAGAGGGGCAAGCTCTGTAAAGGGCATAGACATTGGCTCAAGACAGGGCTTAGGGATGCCTTAGCTGAGCCCTGCCTTTCTGGTGTAGTCACGTAAGACCGATGGCAGCAGGAGCGAAGGGCAGAAAGGAAGGTCCCCACCAGCACAGGGCACAGGGGAGATGGGATGAAGGTAAGGTGGGACTCAGGTGCCCCCGGGGTCACTTCAGGGCCTCCCGAGGGTGACTGTGCTGGGCCCTGAGCCAGAGCCCCTCATGGCAGACAGGGTTGTGGGGTCAGCCTTGTTTTGGGGATGGGGAACTGGAAGGACAAGGACCACCTGCAGTTCTCAGCTGGTGGACCCTGGTGGGCAGGGCCCACCCCAGGCCTGGCAGGGCCCCGCTCCTCGCGGCCTCCCTGGGCTGCAAAAGCTCTAACTTGTGTCCTTTGGTTGTTGCCAGCTGAACATCCATGTGGGAAACATTTCCCTGGTGGACCAGTTTGAGTGGGACATGTCAGAGAAGGAGAACTCACCAGAGAAGTTTGCCCTGAAGCTGTGCTCGGAGCTGGGGTTGGGCGGGGAGTTTGTCACCACCATCGCATACAGCATCCGGGGACAGCTGAGCTGGCATCAGAAGACCTACGCCTTCAGGTAGGATCATGCATGAGTCTCTCCCTCCCTCATCTCCCTGCAAAACTGTTTTGAGAAAGACTTCTCTGTGTGAGCGGTGATACCTTTGAGGCTTTCTCACGCTTCGCAGCACAATCTGGCTGGGGTCTGTGTGTTTGCTCCGTCCTCCTCCTGCCCTATGTATCTCTCCAGGGCTCCGCTGTGCCAGGTAGGGTTAGAAGCACCTAACACAATAGCTGGCAAAGACTTGGAGTTCTGTCAGGGTGAACCTCAAGTCCTTGCCTCCACGGAGCCCTGGCCTGCCCCCACCATCCACCATTCAGTTGTCCTGCCCCACACCCTCTCTCTCTGCTCTTGCCCAGACTGTTATTTTGGTCAGGGTGACCCCTGCCCAGGGTTCTTCATCTGTTGAACTTGAATTATGTCTTAAACACAAAGGCCCGCCCAGCTTTTGAGAGTCAGGGGTCCCTAGCAGCTCCTTCTTACTCTAGTATCTCTGCCTTTGGTCAGTCAGAGAGCATTTGATGAGTACCATGCTGGGCTGGACCCCATCCTGGCTGCCCTGGAAGATAGAGACAGGTCACCTTGATCCCTGCCTGTAGCATTTGGGCTGGCTGAGATGGTGGAAGTGTGAACAGAATATTCCAGTCCAGTGTCCTCTGTGGTAGGGATGGGGATGGACCCGGGAGAGGCCCTCCTGTTCCTGGCAGGAGGTGGGACTCAGAGTTAAAAGTGAGGTCAAGGCCCAGTGCGATGGCTCACACCTGCAGTCCTAGCACTTCGCGGAGCTGAGGTGGATCACCAGAACCCAGTAGTTCAAGACCAGCCTGGGAAAAACATGGTGAGACCCCACCTCTACAAAAAAAAAAAAATAGAAAAAATGAGCCGGGCATGTTGGTACATGCCTGTAGTTTCAGCTACTCAGGAAGCTGAGGTGGGAGGATCGCCTGAGCTCAAGAGGTGGAGGCTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAAAATAGCGAGGTTGAACTCTCCCGGCTCAGCAGGACTCTAGGACTGGGAAGCCCCGTGGTTCCTCACCCTGTCCTCTGTGTTGGGATGGGGTGGGGGTGCAGCAAGCATCCCTACATCAAAACAGGATGTTCAGATTTAGTCTGCTCATCAGACTATCATCATCCACATCTGCAGTCATCACTCAGGGATGACAGCTTAAAATGCTACATGAGGAGCAAATAGGAAGGTCTGTTTTGCAAAGCCATGACAATTAATGGAGCTCGTTAGGTTTGTGTCTAACTTGTTTTCCCAGACATCCCAAGAGACAGCTTTCTATGACTTCCCATAAATCTGAGCAAGGAAGAAGGAATGAGAGCCACCCACGGGGCTCAAGGGCCCGGGCCTGGGAAACAGCTGAGTCCCTGCCTGAGCGCCATGGTGCTGAGATCCTGTGACCTGCCCCCCAGCAGCCCTGCCAGTCACATGGTTCTGCTTCACAGACAGGGCAGCCCAGAGAGGAGGCTGGGGGGCTGGTGTCTGATGCCTCCCTGTTCCCTCGGGGTGTTGCCTGGGAGTGCAGCTGTAGCGTGCATTCACCCTGCACAGAGCCAAGCCCTATGGCCGGAGAGCCAGTCAAGGGTGGCCTCCCTCCACCAGAGTTGACTCTGAGGCCCCGGGAGGCAGTCATGTTGCGCGCATCAACACTGAGCACCTCCTCCCGCAGAGGCTGATCCAGTCAGAACCCTCGTCTTGGGCTCACAGGTGCAGGTGGTAGGCTGGCTGCCCCCAGCATCCAGCCCCTACGGTGTTGACCTTCACCTAGTCCTGCAGCCGCTGCCAGTGCCCANN
|
benign
| 323,699 |
Variant at chromosome 22, position 23833669, gene SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Intellectual_disability,_autosomal_dominant_15', 'Rhabdoid_tumor_predisposition_syndrome_1', 'SMARCB1-related_schwannomatosis']
|
CAAACCCACTGGAGTGGAATATTCCCAGCATCAAGGGGAGGTAAACAAAGGACCCTCTGGGACCCACTCGCCAGCTCTTGTTTAAGAGGAAAACATGTTTTGCTCCCCTCGTTGTGGGCTTGGTACCTTTCACGTCTGCCCTCCAAGGAAGGCTGCTGGGAGCCCTCACGGTGAGGAATGATGTTTGGGGTCTGAGGCTAGGGTGGTCCCTAGACTGCTAAACCACCCGGTGCTGGCCAGGGACCAGCTGTCAGGAGCTGCTGAGGATGGGTCAGCCCCAGAGGGTGGGGGTGCCGACATTGCCTCTGGCCCTGCCTCTGCGTCACCAGTACGAGCTTGAGCTTCTGCGACTCATGAGCATGGACCTGGTGGGCTGAGCTTCAGCTGTGAGGGGTCAGGCCTGCTGCAGGGAGAGCCAGCTGCAGCCAGTGCCCTGCGCTGTGCCCACAGTCCCTGAGACCCCAGGCTGAGGAGAGCAGCACTGAGCCCAACCTGGAACGGGCTCACGGCTACTGGAGCTGGGTGTGTGCTCACTGGTGTGGATGTGCAGAGCCGGGACTCGCTCTGCAAGCAGGCTGGTCCCACAACCTTGAGCCACCCACTACAGGGAGGCTGTGAGAAGGTCCCTGGCCCCTAGGAAGCTCCCTCAGTGGAGATGTTTTGGCTGCTTTAATAACAGTCATCCTTCCAAAGCCCTTCACAGCAATAAATGTTTCCATATTCCAGATGAGGTTTGCAGGGACCTGTCCTCTCTATCAGTGTCCACCTGGCGCCTCCCCCGAGTCCGGCCTGCCCTTGCTTCTCCCAGAGCTCATGGTGTTTTTCAGGGCCGCAGGCTGGCAGGGTGTCCTTCTCCCAGGGGACTGAGCCTAGGGAGAGCCAAGTGGAGGTGCCCAAGTGGAGGAGAAAGGAAAGGACCACAGAGAGGGGAGGGGAAGTGGGAGAGTCATGGTTAGGACCTCAGGCTGAGGCCTTCTGCCAAGCCAGGGGTCTGGTGTCACTCAACTGGGAAACACTGTCAGCACCCAAAGCTGCTCTCAGAGGTGGGGGTGACGGGACCACTGCATGTGGGAGGCACACGGGCCCTGTGGCATCCACAGCTGTGGTCTCCTTAGTGTCCTGTCACAGACTTGCAAATCAAAGCCCAGAGAGGCGGCAGCCAGCCACCCTCCCACCTCCCCAGCACTCCTGTGCCCACCCCATGCCTGTTTAGCCTCTGCCCTTGCTGCCCCCTTCCTCTGCTGTGTCCTTTTGGCAAGAGGAAGGTACCTCGGGGCAGATTTGGGTGGTCCTTGTGAGACCCAGGGCAGAGTGTGGTCCGGGGATACGGCTTCTGTCCAGCTCCCTGCCAGACAGCTGTCTGATCCTAAGCACAGACCAGCCTCTCGGGGGTTTTGTTCGGCCAGGAGGTGGGCTGAGGGGCAAGTGTGTGGAACATGCAGGAACAGGCTGTGCAGTGGCCCTCAGTAGTGGGGGGCTGGGGACTTCTGGGAGACTCCTTTGCTCCCATTCGCCATCCATCCCCTTTCCCTGATCAGTGGGCCCTGGCTCTGGACACTGAGTGGAGCAGACAGTCCTCCTGCCCCTATAGGTTCCACCTCCTGACTGGCACTGTGGCATCAGCATGGTCCAGCCCGTGCTGTCCTGTCAAGGACCACCTCCACAGCCAGTGGCCCCTTCCTCCATCTCAGAGACAGAGAGACGCTGGGCACAAAAGCCCTGTTGAAAGTTCACTTTGAAGGGAAGCCCATGGGGTCATGGCGACAACACTTGTTATGGAAAGGCCCTGGCGCCTCCAGCAGCTCCCTTGAGGTTCAGGTGACTGGAGCATCCACTGGGTGCCAGCAGTGCTGCTGGGAGGAGCAGGGCACAGACAGGGGCCAAAGCTTTCTGAGGATTCTCCATCTATAGCTGGAAAAGTCATTCCTCTCACTGCCTCCCCTCCTCGTAGCGAGAACCCTCTGCCCACAGTGGAGATTGCCATCCGGAACACGGGCGATGCGGACCAGTGGTGCCCACTGCTGGAGACTCTGACAGACGCTGAGATGGAGAAGAAGATCCGCGACCAGGACAGGAACACGAGGTACCCCTGGCCCTGTGGTCCTGGGCTCTGCCCACAGGCACCTGGCTTTCCAGGCAGAGGCAGGGCCATTGCCTTTCCCAGTCTCCCATGGTCTCTGAGACAGAGTACCTCTAGTGCTGCTAGAGGCAGGCAGGCTTCTGGGTGATAAGGCCCCATCCAAACGCCAGGGTATGTTTCCCTGCATGGAACAAACATAATTCCTCAGGCTGAGGGTCTGACCACAGCCCAGATCCAGGTTTTGGGGTCCCTGGAGTGATGAGCAGGGCCTGAGTGGCAGACAGGCGAGGCTGAGAGAAGGCTGGGTCTGACCCTGCTGGGGGCCCACATCCTGCCTCTGTTCCCACCCCTACACTTGGCTGCCCTGTAGAGCCTTGGGAAGGGCAGCGCCCAGGCTGGGAGCTGGCCCCGACTCATTGCCCTCCCCACTCCTCTTCCAGGCGGATGAGGCGTCTTGCCAACACGGCCCCGGCCTGGTAACCAGCCCATCAGCACACGGCTCCCACGGAGCATCTCAGAAGATTGGGCCGCCTCTCCTCCATCTTCTGGCAAGGACAGAGGCGAGGGGACAGCCCAGCGCCATCCTGAGGATCGGGTGGGGGTGGAGTGGGGGCTTCCAGGTGGCCCTTCCCGGCACACATTCCATTTGTTGAGCCCCAGTCCTGCCCCCCACCCCACCCTCCCTACCCCTCCCCAGTCTCTGGGGTCAGGAAGAAACCTTATTTTAGGTTGTGTTTTGTTTTTGTATAGGAGCCCCAGGCAGGGCTAGTAACAGTTTTTAAATAAAAGGCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAAAGTTTTAACATAAAAATAATGAGAGCCAGGAGTGGGGCCGGGGCCTGGGGGGACGAAGGTGGTATGTGAACAAGGTTGGCACACAGGCCTCACCCTCCTCTGCCTCAGATTCCCAAGTGGGCAGGTGGGGGTGAATGGGGCTCCGGGTAGCACCTCAGCTCCTCTCAGCTCCCCTCAGCCTGTTCTCCTTCCAGACCCAGAGAGCTGAGAAGAGTAGCTGTGAGGCTCAGGGCAAGAGGCTCTCTGCCTTTCAGGAACAGCCCTAACCCTGCTCCCCTTGCTTGGCCTCAGGAAGGTGCCGCGAGCTCTCCTGCCGTCCCTGGGCCGCCCTGGCTCTGCTGTGTCCAGATGGTCAGGCTACTGCCAGCTGGGGCCTTGCTGCTCTGAAGTCCCCTGCGGAGGGCCCAGTCCTGTGTGGGCACTGCTGGGCTGTCGCCAGCCTGGGTGCAGGAGGGCTGTTCTAGCTCCAGTGGCACCCATAGCCAGGTCAGCTGGGGCCCTTTCCCACCCCAGCAGGTGCTGTGGCCTGGGCCAGCTCCTGCCTTACAAGCCAGCTGTGAGGAATATGGGAATAGCCCTCCCGGCCTGGTGCCAGCTCTTGGAGTTGACACGGTACAGGGAGGAGACACAGCCCAGGGTCCCTTCCCAGCCCTGCCTCCAAGGAGTTCATGTCCCCTCTGTTCTCATCTGTAATAGGGAGGTGTCCCCATTCTTCAGAATGGACACAGGATCTGGGAGGGCAGCAAACTGGCTCGCAGCTCCAGCCTTACTGAAGAGAATGGGCACAGATCCGGGCACAGATCCCAGCACAGACTGCTGCCACCCTCAGCTGTTGGCAGGTCCCATGCTGCCAGGGCAGGGCTAGGGTCAGAGGCTGCTGTGCTCCCTGGAAGTGGGGTAGGGCCCCATGTGGGGCAGAGGCAGAGCTCTGATTAGGGATTGGGGTTCTTGGTCGCTGAGATGTGAGAGGAGGGCTCCTTTGAGCACATGTTAGCATGGGACTCTTCCCAGGGAGTTTGCACTCAGGGCCTCTGCCCTCCATCAAAGAGTGGAACTCCCCAGAGCCCCATGCACAGCAAGGGGACAGCTGGGCCTTACTGGAAGGCCTTGAACAAAGGGGAAGATTCCCAGCCCAGCTGCTCTTAGACATGAACAGGTTTCATTGCTGAGGTGTTTG
|
CAAACCCACTGGAGTGGAATATTCCCAGCATCAAGGGGAGGTAAACAAAGGACCCTCTGGGACCCACTCGCCAGCTCTTGTTTAAGAGGAAAACATGTTTTGCTCCCCTCGTTGTGGGCTTGGTACCTTTCACGTCTGCCCTCCAAGGAAGGCTGCTGGGAGCCCTCACGGTGAGGAATGATGTTTGGGGTCTGAGGCTAGGGTGGTCCCTAGACTGCTAAACCACCCGGTGCTGGCCAGGGACCAGCTGTCAGGAGCTGCTGAGGATGGGTCAGCCCCAGAGGGTGGGGGTGCCGACATTGCCTCTGGCCCTGCCTCTGCGTCACCAGTACGAGCTTGAGCTTCTGCGACTCATGAGCATGGACCTGGTGGGCTGAGCTTCAGCTGTGAGGGGTCAGGCCTGCTGCAGGGAGAGCCAGCTGCAGCCAGTGCCCTGCGCTGTGCCCACAGTCCCTGAGACCCCAGGCTGAGGAGAGCAGCACTGAGCCCAACCTGGAACGGGCTCACGGCTACTGGAGCTGGGTGTGTGCTCACTGGTGTGGATGTGCAGAGCCGGGACTCGCTCTGCAAGCAGGCTGGTCCCACAACCTTGAGCCACCCACTACAGGGAGGCTGTGAGAAGGTCCCTGGCCCCTAGGAAGCTCCCTCAGTGGAGATGTTTTGGCTGCTTTAATAACAGTCATCCTTCCAAAGCCCTTCACAGCAATAAATGTTTCCATATTCCAGATGAGGTTTGCAGGGACCTGTCCTCTCTATCAGTGTCCACCTGGCGCCTCCCCCGAGTCCGGCCTGCCCTTGCTTCTCCCAGAGCTCATGGTGTTTTTCAGGGCCGCAGGCTGGCAGGGTGTCCTTCTCCCAGGGGACTGAGCCTAGGGAGAGCCAAGTGGAGGTGCCCAAGTGGAGGAGAAAGGAAAGGACCACAGAGAGGGGAGGGGAAGTGGGAGAGTCATGGTTAGGACCTCAGGCTGAGGCCTTCTGCCAAGCCAGGGGTCTGGTGTCACTCAACTGGGAAACACTGTCAGCACCCAAAGCTGCTCTCAGAGGTGGGGGTGACGGGACCACTGCATGTGGGAGGCACACGGGCCCTGTGGCATCCACAGCTGTGGTCTCCTTAGTGTCCTGTCACAGACTTGCAAATCAAAGCCCAGAGAGGCGGCAGCCAGCCACCCTCCCACCTCCCCAGCACTCCTGTGCCCACCCCATGCCTGTTTAGCCTCTGCCCTTGCTGCCCCCTTCCTCTGCTGTGTCCTTTTGGCAAGAGGAAGGTACCTCGGGGCAGATTTGGGTGGTCCTTGTGAGACCCAGGGCAGAGTGTGGTCCGGGGATACGGCTTCTGTCCAGCTCCCTGCCAGACAGCTGTCTGATCCTAAGCACAGACCAGCCTCTCGGGGGTTTTGTTCGGCCAGGAGGTGGGCTGAGGGGCAAGTGTGTGGAACATGCAGGAACAGGCTGTGCAGTGGCCCTCAGTAGTGGGGGGCTGGGGACTTCTGGGAGACTCCTTTGCTCCCATTCGCCATCCATCCCCTTTCCCTGATCAGTGGGCCCTGGCTCTGGACACTGAGTGGAGCAGACAGTCCTCCTGCCCCTATAGGTTCCACCTCCTGACTGGCACTGTGGCATCAGCATGGTCCAGCCCGTGCTGTCCTGTCAAGGACCACCTCCACAGCCAGTGGCCCCTTCCTCCATCTCAGAGACAGAGAGACGCTGGGCACAAAAGCCCTGTTGAAAGTTCACTTTGAAGGGAAGCCCATGGGGTCATGGCGACAACACTTGTTATGGAAAGGCCCTGGCGCCTCCAGCAGCTCCCTTGAGGTTCAGGTGACTGGAGCATCCACTGGGTGCCAGCAGTGCTGCTGGGAGGAGCAGGGCACAGACAGGGGCCAAAGCTTTCTGAGGATTCTCCATCTATAGCTGGAAAAGTCATTCCTCTCACTGCCTCCCCTCCTCGTAGCGAGAACCCTCTGCCCACAGTGGAGATTGCCATCCGGAACACGGGCGATGCGGACCAGTGGTGCCCACTGCTGGAGACTCTGACAGACGCTGAGATGGAGAAGATCCGCGACCAGGACAGGAACACGAGGTACCCCTGGCCCTGTGGTCCTGGGCTCTGCCCACAGGCACCTGGCTTTCCAGGCAGAGGCAGGGCCATTGCCTTTCCCAGTCTCCCATGGTCTCTGAGACAGAGTACCTCTAGTGCTGCTAGAGGCAGGCAGGCTTCTGGGTGATAAGGCCCCATCCAAACGCCAGGGTATGTTTCCCTGCATGGAACAAACATAATTCCTCAGGCTGAGGGTCTGACCACAGCCCAGATCCAGGTTTTGGGGTCCCTGGAGTGATGAGCAGGGCCTGAGTGGCAGACAGGCGAGGCTGAGAGAAGGCTGGGTCTGACCCTGCTGGGGGCCCACATCCTGCCTCTGTTCCCACCCCTACACTTGGCTGCCCTGTAGAGCCTTGGGAAGGGCAGCGCCCAGGCTGGGAGCTGGCCCCGACTCATTGCCCTCCCCACTCCTCTTCCAGGCGGATGAGGCGTCTTGCCAACACGGCCCCGGCCTGGTAACCAGCCCATCAGCACACGGCTCCCACGGAGCATCTCAGAAGATTGGGCCGCCTCTCCTCCATCTTCTGGCAAGGACAGAGGCGAGGGGACAGCCCAGCGCCATCCTGAGGATCGGGTGGGGGTGGAGTGGGGGCTTCCAGGTGGCCCTTCCCGGCACACATTCCATTTGTTGAGCCCCAGTCCTGCCCCCCACCCCACCCTCCCTACCCCTCCCCAGTCTCTGGGGTCAGGAAGAAACCTTATTTTAGGTTGTGTTTTGTTTTTGTATAGGAGCCCCAGGCAGGGCTAGTAACAGTTTTTAAATAAAAGGCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAAAGTTTTAACATAAAAATAATGAGAGCCAGGAGTGGGGCCGGGGCCTGGGGGGACGAAGGTGGTATGTGAACAAGGTTGGCACACAGGCCTCACCCTCCTCTGCCTCAGATTCCCAAGTGGGCAGGTGGGGGTGAATGGGGCTCCGGGTAGCACCTCAGCTCCTCTCAGCTCCCCTCAGCCTGTTCTCCTTCCAGACCCAGAGAGCTGAGAAGAGTAGCTGTGAGGCTCAGGGCAAGAGGCTCTCTGCCTTTCAGGAACAGCCCTAACCCTGCTCCCCTTGCTTGGCCTCAGGAAGGTGCCGCGAGCTCTCCTGCCGTCCCTGGGCCGCCCTGGCTCTGCTGTGTCCAGATGGTCAGGCTACTGCCAGCTGGGGCCTTGCTGCTCTGAAGTCCCCTGCGGAGGGCCCAGTCCTGTGTGGGCACTGCTGGGCTGTCGCCAGCCTGGGTGCAGGAGGGCTGTTCTAGCTCCAGTGGCACCCATAGCCAGGTCAGCTGGGGCCCTTTCCCACCCCAGCAGGTGCTGTGGCCTGGGCCAGCTCCTGCCTTACAAGCCAGCTGTGAGGAATATGGGAATAGCCCTCCCGGCCTGGTGCCAGCTCTTGGAGTTGACACGGTACAGGGAGGAGACACAGCCCAGGGTCCCTTCCCAGCCCTGCCTCCAAGGAGTTCATGTCCCCTCTGTTCTCATCTGTAATAGGGAGGTGTCCCCATTCTTCAGAATGGACACAGGATCTGGGAGGGCAGCAAACTGGCTCGCAGCTCCAGCCTTACTGAAGAGAATGGGCACAGATCCGGGCACAGATCCCAGCACAGACTGCTGCCACCCTCAGCTGTTGGCAGGTCCCATGCTGCCAGGGCAGGGCTAGGGTCAGAGGCTGCTGTGCTCCCTGGAAGTGGGGTAGGGCCCCATGTGGGGCAGAGGCAGAGCTCTGATTAGGGATTGGGGTTCTTGGTCGCTGAGATGTGAGAGGAGGGCTCCTTTGAGCACATGTTAGCATGGGACTCTTCCCAGGGAGTTTGCACTCAGGGCCTCTGCCCTCCATCAAAGAGTGGAACTCCCCAGAGCCCCATGCACAGCAAGGGGACAGCTGGGCCTTACTGGAAGGCCTTGAACAAAGGGGAAGATTCCCAGCCCAGCTGCTCTTAGACATGAACAGGTTTCATTGCTGAGGTGTTTGNNN
|
pathogenic
| 323,752 |
Variant in gene SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1), located at chromosome 22 position 23834166: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Rhabdoid_tumor_predisposition_syndrome_1']
|
ACGGGCTCACGGCTACTGGAGCTGGGTGTGTGCTCACTGGTGTGGATGTGCAGAGCCGGGACTCGCTCTGCAAGCAGGCTGGTCCCACAACCTTGAGCCACCCACTACAGGGAGGCTGTGAGAAGGTCCCTGGCCCCTAGGAAGCTCCCTCAGTGGAGATGTTTTGGCTGCTTTAATAACAGTCATCCTTCCAAAGCCCTTCACAGCAATAAATGTTTCCATATTCCAGATGAGGTTTGCAGGGACCTGTCCTCTCTATCAGTGTCCACCTGGCGCCTCCCCCGAGTCCGGCCTGCCCTTGCTTCTCCCAGAGCTCATGGTGTTTTTCAGGGCCGCAGGCTGGCAGGGTGTCCTTCTCCCAGGGGACTGAGCCTAGGGAGAGCCAAGTGGAGGTGCCCAAGTGGAGGAGAAAGGAAAGGACCACAGAGAGGGGAGGGGAAGTGGGAGAGTCATGGTTAGGACCTCAGGCTGAGGCCTTCTGCCAAGCCAGGGGTCTGGTGTCACTCAACTGGGAAACACTGTCAGCACCCAAAGCTGCTCTCAGAGGTGGGGGTGACGGGACCACTGCATGTGGGAGGCACACGGGCCCTGTGGCATCCACAGCTGTGGTCTCCTTAGTGTCCTGTCACAGACTTGCAAATCAAAGCCCAGAGAGGCGGCAGCCAGCCACCCTCCCACCTCCCCAGCACTCCTGTGCCCACCCCATGCCTGTTTAGCCTCTGCCCTTGCTGCCCCCTTCCTCTGCTGTGTCCTTTTGGCAAGAGGAAGGTACCTCGGGGCAGATTTGGGTGGTCCTTGTGAGACCCAGGGCAGAGTGTGGTCCGGGGATACGGCTTCTGTCCAGCTCCCTGCCAGACAGCTGTCTGATCCTAAGCACAGACCAGCCTCTCGGGGGTTTTGTTCGGCCAGGAGGTGGGCTGAGGGGCAAGTGTGTGGAACATGCAGGAACAGGCTGTGCAGTGGCCCTCAGTAGTGGGGGGCTGGGGACTTCTGGGAGACTCCTTTGCTCCCATTCGCCATCCATCCCCTTTCCCTGATCAGTGGGCCCTGGCTCTGGACACTGAGTGGAGCAGACAGTCCTCCTGCCCCTATAGGTTCCACCTCCTGACTGGCACTGTGGCATCAGCATGGTCCAGCCCGTGCTGTCCTGTCAAGGACCACCTCCACAGCCAGTGGCCCCTTCCTCCATCTCAGAGACAGAGAGACGCTGGGCACAAAAGCCCTGTTGAAAGTTCACTTTGAAGGGAAGCCCATGGGGTCATGGCGACAACACTTGTTATGGAAAGGCCCTGGCGCCTCCAGCAGCTCCCTTGAGGTTCAGGTGACTGGAGCATCCACTGGGTGCCAGCAGTGCTGCTGGGAGGAGCAGGGCACAGACAGGGGCCAAAGCTTTCTGAGGATTCTCCATCTATAGCTGGAAAAGTCATTCCTCTCACTGCCTCCCCTCCTCGTAGCGAGAACCCTCTGCCCACAGTGGAGATTGCCATCCGGAACACGGGCGATGCGGACCAGTGGTGCCCACTGCTGGAGACTCTGACAGACGCTGAGATGGAGAAGAAGATCCGCGACCAGGACAGGAACACGAGGTACCCCTGGCCCTGTGGTCCTGGGCTCTGCCCACAGGCACCTGGCTTTCCAGGCAGAGGCAGGGCCATTGCCTTTCCCAGTCTCCCATGGTCTCTGAGACAGAGTACCTCTAGTGCTGCTAGAGGCAGGCAGGCTTCTGGGTGATAAGGCCCCATCCAAACGCCAGGGTATGTTTCCCTGCATGGAACAAACATAATTCCTCAGGCTGAGGGTCTGACCACAGCCCAGATCCAGGTTTTGGGGTCCCTGGAGTGATGAGCAGGGCCTGAGTGGCAGACAGGCGAGGCTGAGAGAAGGCTGGGTCTGACCCTGCTGGGGGCCCACATCCTGCCTCTGTTCCCACCCCTACACTTGGCTGCCCTGTAGAGCCTTGGGAAGGGCAGCGCCCAGGCTGGGAGCTGGCCCCGACTCATTGCCCTCCCCACTCCTCTTCCAGGCGGATGAGGCGTCTTGCCAACACGGCCCCGGCCTGGTAACCAGCCCATCAGCACACGGCTCCCACGGAGCATCTCAGAAGATTGGGCCGCCTCTCCTCCATCTTCTGGCAAGGACAGAGGCGAGGGGACAGCCCAGCGCCATCCTGAGGATCGGGTGGGGGTGGAGTGGGGGCTTCCAGGTGGCCCTTCCCGGCACACATTCCATTTGTTGAGCCCCAGTCCTGCCCCCCACCCCACCCTCCCTACCCCTCCCCAGTCTCTGGGGTCAGGAAGAAACCTTATTTTAGGTTGTGTTTTGTTTTTGTATAGGAGCCCCAGGCAGGGCTAGTAACAGTTTTTAAATAAAAGGCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAAAGTTTTAACATAAAAATAATGAGAGCCAGGAGTGGGGCCGGGGCCTGGGGGGACGAAGGTGGTATGTGAACAAGGTTGGCACACAGGCCTCACCCTCCTCTGCCTCAGATTCCCAAGTGGGCAGGTGGGGGTGAATGGGGCTCCGGGTAGCACCTCAGCTCCTCTCAGCTCCCCTCAGCCTGTTCTCCTTCCAGACCCAGAGAGCTGAGAAGAGTAGCTGTGAGGCTCAGGGCAAGAGGCTCTCTGCCTTTCAGGAACAGCCCTAACCCTGCTCCCCTTGCTTGGCCTCAGGAAGGTGCCGCGAGCTCTCCTGCCGTCCCTGGGCCGCCCTGGCTCTGCTGTGTCCAGATGGTCAGGCTACTGCCAGCTGGGGCCTTGCTGCTCTGAAGTCCCCTGCGGAGGGCCCAGTCCTGTGTGGGCACTGCTGGGCTGTCGCCAGCCTGGGTGCAGGAGGGCTGTTCTAGCTCCAGTGGCACCCATAGCCAGGTCAGCTGGGGCCCTTTCCCACCCCAGCAGGTGCTGTGGCCTGGGCCAGCTCCTGCCTTACAAGCCAGCTGTGAGGAATATGGGAATAGCCCTCCCGGCCTGGTGCCAGCTCTTGGAGTTGACACGGTACAGGGAGGAGACACAGCCCAGGGTCCCTTCCCAGCCCTGCCTCCAAGGAGTTCATGTCCCCTCTGTTCTCATCTGTAATAGGGAGGTGTCCCCATTCTTCAGAATGGACACAGGATCTGGGAGGGCAGCAAACTGGCTCGCAGCTCCAGCCTTACTGAAGAGAATGGGCACAGATCCGGGCACAGATCCCAGCACAGACTGCTGCCACCCTCAGCTGTTGGCAGGTCCCATGCTGCCAGGGCAGGGCTAGGGTCAGAGGCTGCTGTGCTCCCTGGAAGTGGGGTAGGGCCCCATGTGGGGCAGAGGCAGAGCTCTGATTAGGGATTGGGGTTCTTGGTCGCTGAGATGTGAGAGGAGGGCTCCTTTGAGCACATGTTAGCATGGGACTCTTCCCAGGGAGTTTGCACTCAGGGCCTCTGCCCTCCATCAAAGAGTGGAACTCCCCAGAGCCCCATGCACAGCAAGGGGACAGCTGGGCCTTACTGGAAGGCCTTGAACAAAGGGGAAGATTCCCAGCCCAGCTGCTCTTAGACATGAACAGGTTTCATTGCTGAGGTGTTTGTTCTGTCCATGAGGTAGGAACCTCGGCAATGAAAGGGTGAGGCAGCCCTGTGTCTCCACAACTGGGGGGATGGAAGGAACCTTGGCTGCCTCACCCCACAGGTCGGGCAGGGCCACCTGGCTGGGAGGTGCCGGGAAGGCTGGGCCCTCACTCCTGACCGCCAGCTCACACCGCCGCAAAGCCATCTCCACAAGGTCTGGCTACAACACGGAGGGCAGACTCAACAGAGAACAGTGTTGTTACCATGAAAATGACAACCTGTCTTTGGAGGAGGCCCCGTGCCACTGAGCATCCAGAAATAAACCACAACATGGACAGGCTTAGAACAACAAGGAAAGCTGCCAGGTCAGAAGAGAAAAATGAGCCACAGGGGTCGGATAAGGCTCACACACGTCCTCAGCTAAAAAGGGCAGGAACAGAACCTTCCAGAAGTCCCTGCCTCACCCAGTCTCAGAACTCTGCTAAGGTGAAAACTTAGGCTCTGAGGTCATAGAAAG
|
ACGGGCTCACGGCTACTGGAGCTGGGTGTGTGCTCACTGGTGTGGATGTGCAGAGCCGGGACTCGCTCTGCAAGCAGGCTGGTCCCACAACCTTGAGCCACCCACTACAGGGAGGCTGTGAGAAGGTCCCTGGCCCCTAGGAAGCTCCCTCAGTGGAGATGTTTTGGCTGCTTTAATAACAGTCATCCTTCCAAAGCCCTTCACAGCAATAAATGTTTCCATATTCCAGATGAGGTTTGCAGGGACCTGTCCTCTCTATCAGTGTCCACCTGGCGCCTCCCCCGAGTCCGGCCTGCCCTTGCTTCTCCCAGAGCTCATGGTGTTTTTCAGGGCCGCAGGCTGGCAGGGTGTCCTTCTCCCAGGGGACTGAGCCTAGGGAGAGCCAAGTGGAGGTGCCCAAGTGGAGGAGAAAGGAAAGGACCACAGAGAGGGGAGGGGAAGTGGGAGAGTCATGGTTAGGACCTCAGGCTGAGGCCTTCTGCCAAGCCAGGGGTCTGGTGTCACTCAACTGGGAAACACTGTCAGCACCCAAAGCTGCTCTCAGAGGTGGGGGTGACGGGACCACTGCATGTGGGAGGCACACGGGCCCTGTGGCATCCACAGCTGTGGTCTCCTTAGTGTCCTGTCACAGACTTGCAAATCAAAGCCCAGAGAGGCGGCAGCCAGCCACCCTCCCACCTCCCCAGCACTCCTGTGCCCACCCCATGCCTGTTTAGCCTCTGCCCTTGCTGCCCCCTTCCTCTGCTGTGTCCTTTTGGCAAGAGGAAGGTACCTCGGGGCAGATTTGGGTGGTCCTTGTGAGACCCAGGGCAGAGTGTGGTCCGGGGATACGGCTTCTGTCCAGCTCCCTGCCAGACAGCTGTCTGATCCTAAGCACAGACCAGCCTCTCGGGGGTTTTGTTCGGCCAGGAGGTGGGCTGAGGGGCAAGTGTGTGGAACATGCAGGAACAGGCTGTGCAGTGGCCCTCAGTAGTGGGGGGCTGGGGACTTCTGGGAGACTCCTTTGCTCCCATTCGCCATCCATCCCCTTTCCCTGATCAGTGGGCCCTGGCTCTGGACACTGAGTGGAGCAGACAGTCCTCCTGCCCCTATAGGTTCCACCTCCTGACTGGCACTGTGGCATCAGCATGGTCCAGCCCGTGCTGTCCTGTCAAGGACCACCTCCACAGCCAGTGGCCCCTTCCTCCATCTCAGAGACAGAGAGACGCTGGGCACAAAAGCCCTGTTGAAAGTTCACTTTGAAGGGAAGCCCATGGGGTCATGGCGACAACACTTGTTATGGAAAGGCCCTGGCGCCTCCAGCAGCTCCCTTGAGGTTCAGGTGACTGGAGCATCCACTGGGTGCCAGCAGTGCTGCTGGGAGGAGCAGGGCACAGACAGGGGCCAAAGCTTTCTGAGGATTCTCCATCTATAGCTGGAAAAGTCATTCCTCTCACTGCCTCCCCTCCTCGTAGCGAGAACCCTCTGCCCACAGTGGAGATTGCCATCCGGAACACGGGCGATGCGGACCAGTGGTGCCCACTGCTGGAGACTCTGACAGACGCTGAGATGGAGAAGAAGATCCGCGACCAGGACAGGAACACGAGGTACCCCTGGCCCTGTGGTCCTGGGCTCTGCCCACAGGCACCTGGCTTTCCAGGCAGAGGCAGGGCCATTGCCTTTCCCAGTCTCCCATGGTCTCTGAGACAGAGTACCTCTAGTGCTGCTAGAGGCAGGCAGGCTTCTGGGTGATAAGGCCCCATCCAAACGCCAGGGTATGTTTCCCTGCATGGAACAAACATAATTCCTCAGGCTGAGGGTCTGACCACAGCCCAGATCCAGGTTTTGGGGTCCCTGGAGTGATGAGCAGGGCCTGAGTGGCAGACAGGCGAGGCTGAGAGAAGGCTGGGTCTGACCCTGCTGGGGGCCCACATCCTGCCTCTGTTCCCACCCCTACACTTGGCTGCCCTGTAGAGCCTTGGGAAGGGCAGCGCCCAGGCTGGGAGCTGGCCCCGACTCATTGCCCTCCCCACTCCTCTTCCAGGCGGATGAGGCGTCTTGCCAACACGGCCCGGCCTGGTAACCAGCCCATCAGCACACGGCTCCCACGGAGCATCTCAGAAGATTGGGCCGCCTCTCCTCCATCTTCTGGCAAGGACAGAGGCGAGGGGACAGCCCAGCGCCATCCTGAGGATCGGGTGGGGGTGGAGTGGGGGCTTCCAGGTGGCCCTTCCCGGCACACATTCCATTTGTTGAGCCCCAGTCCTGCCCCCCACCCCACCCTCCCTACCCCTCCCCAGTCTCTGGGGTCAGGAAGAAACCTTATTTTAGGTTGTGTTTTGTTTTTGTATAGGAGCCCCAGGCAGGGCTAGTAACAGTTTTTAAATAAAAGGCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAAAGTTTTAACATAAAAATAATGAGAGCCAGGAGTGGGGCCGGGGCCTGGGGGGACGAAGGTGGTATGTGAACAAGGTTGGCACACAGGCCTCACCCTCCTCTGCCTCAGATTCCCAAGTGGGCAGGTGGGGGTGAATGGGGCTCCGGGTAGCACCTCAGCTCCTCTCAGCTCCCCTCAGCCTGTTCTCCTTCCAGACCCAGAGAGCTGAGAAGAGTAGCTGTGAGGCTCAGGGCAAGAGGCTCTCTGCCTTTCAGGAACAGCCCTAACCCTGCTCCCCTTGCTTGGCCTCAGGAAGGTGCCGCGAGCTCTCCTGCCGTCCCTGGGCCGCCCTGGCTCTGCTGTGTCCAGATGGTCAGGCTACTGCCAGCTGGGGCCTTGCTGCTCTGAAGTCCCCTGCGGAGGGCCCAGTCCTGTGTGGGCACTGCTGGGCTGTCGCCAGCCTGGGTGCAGGAGGGCTGTTCTAGCTCCAGTGGCACCCATAGCCAGGTCAGCTGGGGCCCTTTCCCACCCCAGCAGGTGCTGTGGCCTGGGCCAGCTCCTGCCTTACAAGCCAGCTGTGAGGAATATGGGAATAGCCCTCCCGGCCTGGTGCCAGCTCTTGGAGTTGACACGGTACAGGGAGGAGACACAGCCCAGGGTCCCTTCCCAGCCCTGCCTCCAAGGAGTTCATGTCCCCTCTGTTCTCATCTGTAATAGGGAGGTGTCCCCATTCTTCAGAATGGACACAGGATCTGGGAGGGCAGCAAACTGGCTCGCAGCTCCAGCCTTACTGAAGAGAATGGGCACAGATCCGGGCACAGATCCCAGCACAGACTGCTGCCACCCTCAGCTGTTGGCAGGTCCCATGCTGCCAGGGCAGGGCTAGGGTCAGAGGCTGCTGTGCTCCCTGGAAGTGGGGTAGGGCCCCATGTGGGGCAGAGGCAGAGCTCTGATTAGGGATTGGGGTTCTTGGTCGCTGAGATGTGAGAGGAGGGCTCCTTTGAGCACATGTTAGCATGGGACTCTTCCCAGGGAGTTTGCACTCAGGGCCTCTGCCCTCCATCAAAGAGTGGAACTCCCCAGAGCCCCATGCACAGCAAGGGGACAGCTGGGCCTTACTGGAAGGCCTTGAACAAAGGGGAAGATTCCCAGCCCAGCTGCTCTTAGACATGAACAGGTTTCATTGCTGAGGTGTTTGTTCTGTCCATGAGGTAGGAACCTCGGCAATGAAAGGGTGAGGCAGCCCTGTGTCTCCACAACTGGGGGGATGGAAGGAACCTTGGCTGCCTCACCCCACAGGTCGGGCAGGGCCACCTGGCTGGGAGGTGCCGGGAAGGCTGGGCCCTCACTCCTGACCGCCAGCTCACACCGCCGCAAAGCCATCTCCACAAGGTCTGGCTACAACACGGAGGGCAGACTCAACAGAGAACAGTGTTGTTACCATGAAAATGACAACCTGTCTTTGGAGGAGGCCCCGTGCCACTGAGCATCCAGAAATAAACCACAACATGGACAGGCTTAGAACAACAAGGAAAGCTGCCAGGTCAGAAGAGAAAAATGAGCCACAGGGGTCGGATAAGGCTCACACACGTCCTCAGCTAAAAAGGGCAGGAACAGAACCTTCCAGAAGTCCCTGCCTCACCCAGTCTCAGAACTCTGCTAAGGTGAAAACTTAGGCTCTGAGGTCATAGAAAGN
|
pathogenic
| 323,769 |
Does the genetic variant at chromosome 22, position 23834293, impacting gene SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
benign
|
CCCTGGCCCCTAGGAAGCTCCCTCAGTGGAGATGTTTTGGCTGCTTTAATAACAGTCATCCTTCCAAAGCCCTTCACAGCAATAAATGTTTCCATATTCCAGATGAGGTTTGCAGGGACCTGTCCTCTCTATCAGTGTCCACCTGGCGCCTCCCCCGAGTCCGGCCTGCCCTTGCTTCTCCCAGAGCTCATGGTGTTTTTCAGGGCCGCAGGCTGGCAGGGTGTCCTTCTCCCAGGGGACTGAGCCTAGGGAGAGCCAAGTGGAGGTGCCCAAGTGGAGGAGAAAGGAAAGGACCACAGAGAGGGGAGGGGAAGTGGGAGAGTCATGGTTAGGACCTCAGGCTGAGGCCTTCTGCCAAGCCAGGGGTCTGGTGTCACTCAACTGGGAAACACTGTCAGCACCCAAAGCTGCTCTCAGAGGTGGGGGTGACGGGACCACTGCATGTGGGAGGCACACGGGCCCTGTGGCATCCACAGCTGTGGTCTCCTTAGTGTCCTGTCACAGACTTGCAAATCAAAGCCCAGAGAGGCGGCAGCCAGCCACCCTCCCACCTCCCCAGCACTCCTGTGCCCACCCCATGCCTGTTTAGCCTCTGCCCTTGCTGCCCCCTTCCTCTGCTGTGTCCTTTTGGCAAGAGGAAGGTACCTCGGGGCAGATTTGGGTGGTCCTTGTGAGACCCAGGGCAGAGTGTGGTCCGGGGATACGGCTTCTGTCCAGCTCCCTGCCAGACAGCTGTCTGATCCTAAGCACAGACCAGCCTCTCGGGGGTTTTGTTCGGCCAGGAGGTGGGCTGAGGGGCAAGTGTGTGGAACATGCAGGAACAGGCTGTGCAGTGGCCCTCAGTAGTGGGGGGCTGGGGACTTCTGGGAGACTCCTTTGCTCCCATTCGCCATCCATCCCCTTTCCCTGATCAGTGGGCCCTGGCTCTGGACACTGAGTGGAGCAGACAGTCCTCCTGCCCCTATAGGTTCCACCTCCTGACTGGCACTGTGGCATCAGCATGGTCCAGCCCGTGCTGTCCTGTCAAGGACCACCTCCACAGCCAGTGGCCCCTTCCTCCATCTCAGAGACAGAGAGACGCTGGGCACAAAAGCCCTGTTGAAAGTTCACTTTGAAGGGAAGCCCATGGGGTCATGGCGACAACACTTGTTATGGAAAGGCCCTGGCGCCTCCAGCAGCTCCCTTGAGGTTCAGGTGACTGGAGCATCCACTGGGTGCCAGCAGTGCTGCTGGGAGGAGCAGGGCACAGACAGGGGCCAAAGCTTTCTGAGGATTCTCCATCTATAGCTGGAAAAGTCATTCCTCTCACTGCCTCCCCTCCTCGTAGCGAGAACCCTCTGCCCACAGTGGAGATTGCCATCCGGAACACGGGCGATGCGGACCAGTGGTGCCCACTGCTGGAGACTCTGACAGACGCTGAGATGGAGAAGAAGATCCGCGACCAGGACAGGAACACGAGGTACCCCTGGCCCTGTGGTCCTGGGCTCTGCCCACAGGCACCTGGCTTTCCAGGCAGAGGCAGGGCCATTGCCTTTCCCAGTCTCCCATGGTCTCTGAGACAGAGTACCTCTAGTGCTGCTAGAGGCAGGCAGGCTTCTGGGTGATAAGGCCCCATCCAAACGCCAGGGTATGTTTCCCTGCATGGAACAAACATAATTCCTCAGGCTGAGGGTCTGACCACAGCCCAGATCCAGGTTTTGGGGTCCCTGGAGTGATGAGCAGGGCCTGAGTGGCAGACAGGCGAGGCTGAGAGAAGGCTGGGTCTGACCCTGCTGGGGGCCCACATCCTGCCTCTGTTCCCACCCCTACACTTGGCTGCCCTGTAGAGCCTTGGGAAGGGCAGCGCCCAGGCTGGGAGCTGGCCCCGACTCATTGCCCTCCCCACTCCTCTTCCAGGCGGATGAGGCGTCTTGCCAACACGGCCCCGGCCTGGTAACCAGCCCATCAGCACACGGCTCCCACGGAGCATCTCAGAAGATTGGGCCGCCTCTCCTCCATCTTCTGGCAAGGACAGAGGCGAGGGGACAGCCCAGCGCCATCCTGAGGATCGGGTGGGGGTGGAGTGGGGGCTTCCAGGTGGCCCTTCCCGGCACACATTCCATTTGTTGAGCCCCAGTCCTGCCCCCCACCCCACCCTCCCTACCCCTCCCCAGTCTCTGGGGTCAGGAAGAAACCTTATTTTAGGTTGTGTTTTGTTTTTGTATAGGAGCCCCAGGCAGGGCTAGTAACAGTTTTTAAATAAAAGGCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAAAGTTTTAACATAAAAATAATGAGAGCCAGGAGTGGGGCCGGGGCCTGGGGGGACGAAGGTGGTATGTGAACAAGGTTGGCACACAGGCCTCACCCTCCTCTGCCTCAGATTCCCAAGTGGGCAGGTGGGGGTGAATGGGGCTCCGGGTAGCACCTCAGCTCCTCTCAGCTCCCCTCAGCCTGTTCTCCTTCCAGACCCAGAGAGCTGAGAAGAGTAGCTGTGAGGCTCAGGGCAAGAGGCTCTCTGCCTTTCAGGAACAGCCCTAACCCTGCTCCCCTTGCTTGGCCTCAGGAAGGTGCCGCGAGCTCTCCTGCCGTCCCTGGGCCGCCCTGGCTCTGCTGTGTCCAGATGGTCAGGCTACTGCCAGCTGGGGCCTTGCTGCTCTGAAGTCCCCTGCGGAGGGCCCAGTCCTGTGTGGGCACTGCTGGGCTGTCGCCAGCCTGGGTGCAGGAGGGCTGTTCTAGCTCCAGTGGCACCCATAGCCAGGTCAGCTGGGGCCCTTTCCCACCCCAGCAGGTGCTGTGGCCTGGGCCAGCTCCTGCCTTACAAGCCAGCTGTGAGGAATATGGGAATAGCCCTCCCGGCCTGGTGCCAGCTCTTGGAGTTGACACGGTACAGGGAGGAGACACAGCCCAGGGTCCCTTCCCAGCCCTGCCTCCAAGGAGTTCATGTCCCCTCTGTTCTCATCTGTAATAGGGAGGTGTCCCCATTCTTCAGAATGGACACAGGATCTGGGAGGGCAGCAAACTGGCTCGCAGCTCCAGCCTTACTGAAGAGAATGGGCACAGATCCGGGCACAGATCCCAGCACAGACTGCTGCCACCCTCAGCTGTTGGCAGGTCCCATGCTGCCAGGGCAGGGCTAGGGTCAGAGGCTGCTGTGCTCCCTGGAAGTGGGGTAGGGCCCCATGTGGGGCAGAGGCAGAGCTCTGATTAGGGATTGGGGTTCTTGGTCGCTGAGATGTGAGAGGAGGGCTCCTTTGAGCACATGTTAGCATGGGACTCTTCCCAGGGAGTTTGCACTCAGGGCCTCTGCCCTCCATCAAAGAGTGGAACTCCCCAGAGCCCCATGCACAGCAAGGGGACAGCTGGGCCTTACTGGAAGGCCTTGAACAAAGGGGAAGATTCCCAGCCCAGCTGCTCTTAGACATGAACAGGTTTCATTGCTGAGGTGTTTGTTCTGTCCATGAGGTAGGAACCTCGGCAATGAAAGGGTGAGGCAGCCCTGTGTCTCCACAACTGGGGGGATGGAAGGAACCTTGGCTGCCTCACCCCACAGGTCGGGCAGGGCCACCTGGCTGGGAGGTGCCGGGAAGGCTGGGCCCTCACTCCTGACCGCCAGCTCACACCGCCGCAAAGCCATCTCCACAAGGTCTGGCTACAACACGGAGGGCAGACTCAACAGAGAACAGTGTTGTTACCATGAAAATGACAACCTGTCTTTGGAGGAGGCCCCGTGCCACTGAGCATCCAGAAATAAACCACAACATGGACAGGCTTAGAACAACAAGGAAAGCTGCCAGGTCAGAAGAGAAAAATGAGCCACAGGGGTCGGATAAGGCTCACACACGTCCTCAGCTAAAAAGGGCAGGAACAGAACCTTCCAGAAGTCCCTGCCTCACCCAGTCTCAGAACTCTGCTAAGGTGAAAACTTAGGCTCTGAGGTCATAGAAAGGGCAGAAGACCTAGTCCTGGCCCTCTTCTGCACCTGAATCCATGGGGCTTTGGCATCACCAGATGAAAAATGAGGCATACGCCCACCTGTCAGGGTGGCTGATGAGAGACAGGAGAGGCTAGATTGG
|
CCCTGGCCCCTAGGAAGCTCCCTCAGTGGAGATGTTTTGGCTGCTTTAATAACAGTCATCCTTCCAAAGCCCTTCACAGCAATAAATGTTTCCATATTCCAGATGAGGTTTGCAGGGACCTGTCCTCTCTATCAGTGTCCACCTGGCGCCTCCCCCGAGTCCGGCCTGCCCTTGCTTCTCCCAGAGCTCATGGTGTTTTTCAGGGCCGCAGGCTGGCAGGGTGTCCTTCTCCCAGGGGACTGAGCCTAGGGAGAGCCAAGTGGAGGTGCCCAAGTGGAGGAGAAAGGAAAGGACCACAGAGAGGGGAGGGGAAGTGGGAGAGTCATGGTTAGGACCTCAGGCTGAGGCCTTCTGCCAAGCCAGGGGTCTGGTGTCACTCAACTGGGAAACACTGTCAGCACCCAAAGCTGCTCTCAGAGGTGGGGGTGACGGGACCACTGCATGTGGGAGGCACACGGGCCCTGTGGCATCCACAGCTGTGGTCTCCTTAGTGTCCTGTCACAGACTTGCAAATCAAAGCCCAGAGAGGCGGCAGCCAGCCACCCTCCCACCTCCCCAGCACTCCTGTGCCCACCCCATGCCTGTTTAGCCTCTGCCCTTGCTGCCCCCTTCCTCTGCTGTGTCCTTTTGGCAAGAGGAAGGTACCTCGGGGCAGATTTGGGTGGTCCTTGTGAGACCCAGGGCAGAGTGTGGTCCGGGGATACGGCTTCTGTCCAGCTCCCTGCCAGACAGCTGTCTGATCCTAAGCACAGACCAGCCTCTCGGGGGTTTTGTTCGGCCAGGAGGTGGGCTGAGGGGCAAGTGTGTGGAACATGCAGGAACAGGCTGTGCAGTGGCCCTCAGTAGTGGGGGGCTGGGGACTTCTGGGAGACTCCTTTGCTCCCATTCGCCATCCATCCCCTTTCCCTGATCAGTGGGCCCTGGCTCTGGACACTGAGTGGAGCAGACAGTCCTCCTGCCCCTATAGGTTCCACCTCCTGACTGGCACTGTGGCATCAGCATGGTCCAGCCCGTGCTGTCCTGTCAAGGACCACCTCCACAGCCAGTGGCCCCTTCCTCCATCTCAGAGACAGAGAGACGCTGGGCACAAAAGCCCTGTTGAAAGTTCACTTTGAAGGGAAGCCCATGGGGTCATGGCGACAACACTTGTTATGGAAAGGCCCTGGCGCCTCCAGCAGCTCCCTTGAGGTTCAGGTGACTGGAGCATCCACTGGGTGCCAGCAGTGCTGCTGGGAGGAGCAGGGCACAGACAGGGGCCAAAGCTTTCTGAGGATTCTCCATCTATAGCTGGAAAAGTCATTCCTCTCACTGCCTCCCCTCCTCGTAGCGAGAACCCTCTGCCCACAGTGGAGATTGCCATCCGGAACACGGGCGATGCGGACCAGTGGTGCCCACTGCTGGAGACTCTGACAGACGCTGAGATGGAGAAGAAGATCCGCGACCAGGACAGGAACACGAGGTACCCCTGGCCCTGTGGTCCTGGGCTCTGCCCACAGGCACCTGGCTTTCCAGGCAGAGGCAGGGCCATTGCCTTTCCCAGTCTCCCATGGTCTCTGAGACAGAGTACCTCTAGTGCTGCTAGAGGCAGGCAGGCTTCTGGGTGATAAGGCCCCATCCAAACGCCAGGGTATGTTTCCCTGCATGGAACAAACATAATTCCTCAGGCTGAGGGTCTGACCACAGCCCAGATCCAGGTTTTGGGGTCCCTGGAGTGATGAGCAGGGCCTGAGTGGCAGACAGGCGAGGCTGAGAGAAGGCTGGGTCTGACCCTGCTGGGGGCCCACATCCTGCCTCTGTTCCCACCCCTACACTTGGCTGCCCTGTAGAGCCTTGGGAAGGGCAGCGCCCAGGCTGGGAGCTGGCCCCGACTCATTGCCCTCCCCACTCCTCTTCCAGGCGGATGAGGCGTCTTGCCAACACGGCCCCGGCCTGGTAACCAGCCCATCAGCACACGGCTCCCACGGAGCATCTCAGAAGATTGGGCCGCCTCTCCTCCATCTTCTGGCAAGGACAGAGGCGAGGGGACAGCCCAGCGCCATCCTGAGGATCGGGGTGGGGGTGGAGTGGGGGCTTCCAGGTGGCCCTTCCCGGCACACATTCCATTTGTTGAGCCCCAGTCCTGCCCCCCACCCCACCCTCCCTACCCCTCCCCAGTCTCTGGGGTCAGGAAGAAACCTTATTTTAGGTTGTGTTTTGTTTTTGTATAGGAGCCCCAGGCAGGGCTAGTAACAGTTTTTAAATAAAAGGCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAAAGTTTTAACATAAAAATAATGAGAGCCAGGAGTGGGGCCGGGGCCTGGGGGGACGAAGGTGGTATGTGAACAAGGTTGGCACACAGGCCTCACCCTCCTCTGCCTCAGATTCCCAAGTGGGCAGGTGGGGGTGAATGGGGCTCCGGGTAGCACCTCAGCTCCTCTCAGCTCCCCTCAGCCTGTTCTCCTTCCAGACCCAGAGAGCTGAGAAGAGTAGCTGTGAGGCTCAGGGCAAGAGGCTCTCTGCCTTTCAGGAACAGCCCTAACCCTGCTCCCCTTGCTTGGCCTCAGGAAGGTGCCGCGAGCTCTCCTGCCGTCCCTGGGCCGCCCTGGCTCTGCTGTGTCCAGATGGTCAGGCTACTGCCAGCTGGGGCCTTGCTGCTCTGAAGTCCCCTGCGGAGGGCCCAGTCCTGTGTGGGCACTGCTGGGCTGTCGCCAGCCTGGGTGCAGGAGGGCTGTTCTAGCTCCAGTGGCACCCATAGCCAGGTCAGCTGGGGCCCTTTCCCACCCCAGCAGGTGCTGTGGCCTGGGCCAGCTCCTGCCTTACAAGCCAGCTGTGAGGAATATGGGAATAGCCCTCCCGGCCTGGTGCCAGCTCTTGGAGTTGACACGGTACAGGGAGGAGACACAGCCCAGGGTCCCTTCCCAGCCCTGCCTCCAAGGAGTTCATGTCCCCTCTGTTCTCATCTGTAATAGGGAGGTGTCCCCATTCTTCAGAATGGACACAGGATCTGGGAGGGCAGCAAACTGGCTCGCAGCTCCAGCCTTACTGAAGAGAATGGGCACAGATCCGGGCACAGATCCCAGCACAGACTGCTGCCACCCTCAGCTGTTGGCAGGTCCCATGCTGCCAGGGCAGGGCTAGGGTCAGAGGCTGCTGTGCTCCCTGGAAGTGGGGTAGGGCCCCATGTGGGGCAGAGGCAGAGCTCTGATTAGGGATTGGGGTTCTTGGTCGCTGAGATGTGAGAGGAGGGCTCCTTTGAGCACATGTTAGCATGGGACTCTTCCCAGGGAGTTTGCACTCAGGGCCTCTGCCCTCCATCAAAGAGTGGAACTCCCCAGAGCCCCATGCACAGCAAGGGGACAGCTGGGCCTTACTGGAAGGCCTTGAACAAAGGGGAAGATTCCCAGCCCAGCTGCTCTTAGACATGAACAGGTTTCATTGCTGAGGTGTTTGTTCTGTCCATGAGGTAGGAACCTCGGCAATGAAAGGGTGAGGCAGCCCTGTGTCTCCACAACTGGGGGGATGGAAGGAACCTTGGCTGCCTCACCCCACAGGTCGGGCAGGGCCACCTGGCTGGGAGGTGCCGGGAAGGCTGGGCCCTCACTCCTGACCGCCAGCTCACACCGCCGCAAAGCCATCTCCACAAGGTCTGGCTACAACACGGAGGGCAGACTCAACAGAGAACAGTGTTGTTACCATGAAAATGACAACCTGTCTTTGGAGGAGGCCCCGTGCCACTGAGCATCCAGAAATAAACCACAACATGGACAGGCTTAGAACAACAAGGAAAGCTGCCAGGTCAGAAGAGAAAAATGAGCCACAGGGGTCGGATAAGGCTCACACACGTCCTCAGCTAAAAAGGGCAGGAACAGAACCTTCCAGAAGTCCCTGCCTCACCCAGTCTCAGAACTCTGCTAAGGTGAAAACTTAGGCTCTGAGGTCATAGAAAGGGCAGAAGACCTAGTCCTGGCCCTCTTCTGCACCTGAATCCATGGGGCTTTGGCATCACCAGATGAAAAATGAGGCATACGCCCACCTGTCAGGGTGGCTGATGAGAGACAGGAGAGGCTAGATTG
|
benign
| 323,772 |
Variant in UPB1 (beta-ureidopropionase 1), chromosome 22, position 24500146—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Deficiency_of_beta-ureidopropionase']
|
TGAGGGCCCACTTTCTGGTTTTTGATGGTGCCTTCTCACTGTGTTCTTACATGGTGCAGGAAGCAAGCATGCCCTCTTGGTCTTTTAAAAGGACTCTACCCTCATGACCTAATCACCTCTGAAAGAGCCCTATCACATTGGAGATTAGGATTTCAACATATGAATTTGGGGCAGACATAAGCATTCAGTCTGTCTCAGTGTTCCACTGCATCTCCTGTACCAGGCCTTTCGGTGGGCACAGCACATGGTCATTGACTGCGTCTACACAGGGTATGGCTTGAGGATTGGTTAGGTTCTCCAAGATGAAGCTGTGTAGGATGTGGTAATGCACCGCCTTTGATAATGGGAGGGCAGAGAGGCCTTACAGGTACTGCCCAGATAGTAGACAGGAGTGGCTGGGAGGAGGTAGAGCCCCAAAGGTGGCTGTCCTGGAGGGTGGAGCGGCCTCTCCTGTATTACCTTGGCTTAGAATGAGCTCGCAGGGAGCTGGGGATAAGGAGGTGGGCAGCCTCAGGGCTGGCTAGGCGGAGGCATCACTTGGGGGAAGAAGGGTAGGTAATGGAGGTTGTGCATGGTGGGAAGATGAGGAGAGAGACTTCAGCCAGGTGGTGGTTACAGCCATGTTTCCACACCCAAGACGAGCTCTTCACCTGACATTTTCCTGGTGTGAGACCACAGGCTGAGAGGCCAGGCAGGGTTCACCAGGACACTCTGAAAGAGCTGTCTGGCTCCCAGGCCCACAGGCCTTCGAGGGAATAGACACATAAGCCTTGCTCCTTTTTCTCCTGGTGTCTGCCCACACCCATATCCTGGAAAGCTGCGTGATTTATGTCCACCAGAGGGGATTTGCTCTGAGGCTGTGGCCTGCAGGAGCGCCCTTCCGCTGGAGGGTGGGAGGACTGTCTAAGGCAGTCACAGCAAGGAGAGGCACGGTGTGGGCACTGCTGCTATTTCTAACCTGCTGGAGTGAAGGGAACCTTGACTACTTGAAAAGCAGGCTGATTGTCAGGGGCGGAACCGAACTCAGAGCTGTCAGGGCCGTCACATGGAAAGTGCCTGGCAGGGGGCGGCGACAGGGGGCTTGGGCTGACAGGGCTGTGATTTTGAAAGAAACGTCTCCAAGAAAGTGATTTAAAGTAGGAGAGAAATATTATTATTAGATAATGGCTGTCAGGTTATTTTTTGATGTGTTTTCTGAGTATTTCATAATCATCTTGCGCTTAGATGGTAAGCCCTTCCTGGCTAGGGGCCGTGTCCCATCCCATGCCTCTGTGGCTTTCACCTTCGGGTGTGCAACAGGTATCAGGAGGTATTTGCTGTTTGGCTAATGGTCACTTCAGTGGAAGGTTTTATAACTAATTCTCTAGCCTTGGTTAATAAACTACAAATGTGGATGAGCACTTAGGGCTTCCATCTGAACACCTGGGCCCCTCCAAGCCCACCCAACACCAGATGTAGAACTGGCCTCCCCCAGCAGGAGCAGCAGGACAGAGTGGCCAGGGTCTTTATTCACCATAAGGCCATCCATGTGATCCCAGGTCATGGCCTCTCCATCCAACCTGTCTCCTGAGCCCCATTTTCCAAGCCCCTCGGCTCCCACAGCCTGCCTCACACCCTAGGCTCAGCATAGCCCTGATTCTGGTTCAGAAACACTTTTGAGAATCTGTTCCCTCCTTTCTGTGCTGACTGCCAGGACTTTAATTCCTACCGTGATTTCAGCAACTCTAAAACACCAACCTCTTAACTGGCCTCCCCATTGCCAGGCCTAACCGTGCTGACTCTGCTGAGGTCTCCCTGCCAATTGCAGGTAAAGTCCAGGTTCAGTGTAGTGTTCTGTCATGGCTGGACCCCACTGCTCGCCAGCTCCCTTGGGCCCTGGCACTGAGCGCCTTCTAGCCAGGACATCCTCACCTCTTTGGCTGATAAATAGCTACAAGAAATGGGAGAGAGATTTTAAGTGGAGCAGACTGCATCAAAATCCCCTTCCCTCTTTTTTCCTGCCCATCTAGGAAGCTTGATCTGCCCAGGGAAGCTTTCGAAGCTGCCTCCAGAGAAGACTTTGAACTGCAGGGATATGCCTTTGAAGCAGCGGAGGAGCAGCTGAGACGACCCCGCATTGTGCACGTGGGGCTGGTTCAGAACAGAATCCCCCTCCCCGCAAATGCCCCTGTGGCAGAACAGGTGCAGACTCTTTTGACCATAATAAATACACAAACAGGGTTGTGGCCTGCCCTTGGAGCACACCTGCAGGCCCTGGCTGGCCGCATACTCCGGGTCTGCAGGCTTGGGCGCCTCAAGCAGTAGCAGAGGCGCTTCTGCCCTGGCCTCCCCACATCCCTCCAGCCTGCATCTCTGGCTCTTCTGTCTTCCTGTTCTTATTCTGTCTCTCCCTCCTCCTCACTGATCTTTCCACTTCTCTCCAGCTATTGATCTGAAGCTCCATTTACCAACCGGGAGGGTGCCCTTTTGGCCTGCTCGTGCTCTCCACGGGACGCTGCCTCTCAGCTGCCTGCCAGGAGGCGGCCAGCCAGCACACGCTGGTTGGGACCGTCTGTCCGTGTGTTCTTCTGCCTTAATCCTCAGGGCGGGGACTCGCTATACCCAGAAGTCTGTCAGTTGTGGTGCCTACAGGATTACGGGAATAGATAGGCATTCGCTTATGACCTCAGAGTTAGTAAATAAAGGTGACAGCATCTTGTATCTCCCTAAAGAAACATGTTGTCACAGGCGCAGGTGGTTTGCTTTATACACTTCTCCACAGCATTCCTCCAGCTGCTCAAACTTTCAGGGATTTTCCTGCACAGGTTTCCTCAGGATACGGCGTGTTTGAGGATTCTTAGGGATTCTGGAGAAACCTAAGGCCTCTTGGATTCCAGGTTTGGTTCTGCATCATCATTCACATTGGTCCTTCCTTTGCTTTTGTTGGATTCACAGATGTCTGGTTCTCAGTTCTCTCACTTTTTGTATCAGGATTTGTTTTTTGTGGATATGTCCCCTCTATCATCCCAGACTGTCAAGTCATAGGACCAGCTATGTTTTTTTCACGTGCACAGGGCCTAGAAGTATGCTTTGCGTTTTGCTAACACCAAGCAAATGTGTGTTTGCGGGGCTGATGCTGTCAGCAAATATCCACAAAGCCATGGGGTGCACAGCCTCTCAAAGGAGGAGACTATAGGCCTTGTGGAGAGTTTGTGCGCTCTGGGTTTTCAGCCTGGTTCCTTTGGTCTGTCTTTGAACAAACGCTTTTGAATGTCTCCTGGGAGCCAGGCATTGTGCCAAGGACAAGCAGACAATGAGGATGCTTTCTTCCTATCCCCAAGGAGCCTGTGGGGTCCTGGGAGTGACAGACAGCAGAGGAAGAGTGGCACACAAAGCAGTGGCACACAATGGCTCCCGAAGGCCAGGGGATGCTGAGTTACCTTGACACTTGGCCCATAGCTGTGAGAGCCTGCAGAGGCCCACAGAGGGGTGACATGTGACATAGATAACACCTCCAGGAAGATTAGGTGGGAGGAGGGAAGTACATTCCTGGCCCAGGGCACAGCACACACCAAAGCACGGGGATTTAAAAGAGCCAGAGAGGCGAGGCATTCCATGATAAGATGCACACAGGATAAGTAGGATAAGTGTGGAACCAGGCTTGCCTCTGAAGGCAGGAGAGTGGGGAGCGGAGTCCCGGGCCAAGGGGGTGGCTGACCTGGGAGATGGGTGTGAACGTGGGCCCTGGACCGGAAGCAGCACCATCCTCATCCCTGCCTCTCAGCAACCCCACAGGTCAGGTGGCAGCCTCCCCATTACCAGGTGAGGAAACTGAGGCAGTGTCCAAGTGTCTGACCCCAGAGCCTCTGCACCTCCAGCTTTTCATGCAGATTTTGGACATCAGGAGATAACCAAATATAGAACCTCCCCACCCTACTCCTCATACCTGCCCAGGTGGGCATTGATTTTTCCATATGCATTAGGATGAGATCCTAAAAATTGCCTTACCAATAGAACTAAATGGATTCTAATCCTTTTTAAATTCTCAGGTCTCTGCCCTTCATAGACGCATAAAGGCTATCGTAGAGGTGGCTGCAATGTGTGGAGTCAACATCAT
|
TGAGGGCCCACTTTCTGGTTTTTGATGGTGCCTTCTCACTGTGTTCTTACATGGTGCAGGAAGCAAGCATGCCCTCTTGGTCTTTTAAAAGGACTCTACCCTCATGACCTAATCACCTCTGAAAGAGCCCTATCACATTGGAGATTAGGATTTCAACATATGAATTTGGGGCAGACATAAGCATTCAGTCTGTCTCAGTGTTCCACTGCATCTCCTGTACCAGGCCTTTCGGTGGGCACAGCACATGGTCATTGACTGCGTCTACACAGGGTATGGCTTGAGGATTGGTTAGGTTCTCCAAGATGAAGCTGTGTAGGATGTGGTAATGCACCGCCTTTGATAATGGGAGGGCAGAGAGGCCTTACAGGTACTGCCCAGATAGTAGACAGGAGTGGCTGGGAGGAGGTAGAGCCCCAAAGGTGGCTGTCCTGGAGGGTGGAGCGGCCTCTCCTGTATTACCTTGGCTTAGAATGAGCTCGCAGGGAGCTGGGGATAAGGAGGTGGGCAGCCTCAGGGCTGGCTAGGCGGAGGCATCACTTGGGGGAAGAAGGGTAGGTAATGGAGGTTGTGCATGGTGGGAAGATGAGGAGAGAGACTTCAGCCAGGTGGTGGTTACAGCCATGTTTCCACACCCAAGACGAGCTCTTCACCTGACATTTTCCTGGTGTGAGACCACAGGCTGAGAGGCCAGGCAGGGTTCACCAGGACACTCTGAAAGAGCTGTCTGGCTCCCAGGCCCACAGGCCTTCGAGGGAATAGACACATAAGCCTTGCTCCTTTTTCTCCTGGTGTCTGCCCACACCCATATCCTGGAAAGCTGCGTGATTTATGTCCACCAGAGGGGATTTGCTCTGAGGCTGTGGCCTGCAGGAGCGCCCTTCCGCTGGAGGGTGGGAGGACTGTCTAAGGCAGTCACAGCAAGGAGAGGCACGGTGTGGGCACTGCTGCTATTTCTAACCTGCTGGAGTGAAGGGAACCTTGACTACTTGAAAAGCAGGCTGATTGTCAGGGGCGGAACCGAACTCAGAGCTGTCAGGGCCGTCACATGGAAAGTGCCTGGCAGGGGGCGGCGACAGGGGGCTTGGGCTGACAGGGCTGTGATTTTGAAAGAAACGTCTCCAAGAAAGTGATTTAAAGTAGGAGAGAAATATTATTATTAGATAATGGCTGTCAGGTTATTTTTTGATGTGTTTTCTGAGTATTTCATAATCATCTTGCGCTTAGATGGTAAGCCCTTCCTGGCTAGGGGCCGTGTCCCATCCCATGCCTCTGTGGCTTTCACCTTCGGGTGTGCAACAGGTATCAGGAGGTATTTGCTGTTTGGCTAATGGTCACTTCAGTGGAAGGTTTTATAACTAATTCTCTAGCCTTGGTTAATAAACTACAAATGTGGATGAGCACTTAGGGCTTCCATCTGAACACCTGGGCCCCTCCAAGCCCACCCAACACCAGATGTAGAACTGGCCTCCCCCAGCAGGAGCAGCAGGACAGAGTGGCCAGGGTCTTTATTCACCATAAGGCCATCCATGTGATCCCAGGTCATGGCCTCTCCATCCAACCTGTCTCCTGAGCCCCATTTTCCAAGCCCCTCGGCTCCCACAGCCTGCCTCACACCCTAGGCTCAGCATAGCCCTGATTCTGGTTCAGAAACACTTTTGAGAATCTGTTCCCTCCTTTCTGTGCTGACTGCCAGGACTTTAATTCCTACCGTGATTTCAGCAACTCTAAAACACCAACCTCTTAACTGGCCTCCCCATTGCCAGGCCTAACCGTGCTGACTCTGCTGAGGTCTCCCTGCCAATTGCAGGTAAAGTCCAGGTTCAGTGTAGTGTTCTGTCATGGCTGGACCCCACTGCTCGCCAGCTCCCTTGGGCCCTGGCACTGAGCGCCTTCTAGCCAGGACATCCTCACCTCTTTGGCTGATAAATAGCTACAAGAAATGGGAGAGAGATTTTAAGTGGAGCAGACTGCATCAAAATCCCCTTCCCTCTTTTTTCCTGCCCATCTAGGAAGCTTGATCTGCCCAGGGAAGCTTTCGAAGCTGCCTCCAGAGAGAAGACTTTGAACTGCAGGGATATGCCTTTGAAGCAGCGGAGGAGCAGCTGAGACGACCCCGCATTGTGCACGTGGGGCTGGTTCAGAACAGAATCCCCCTCCCCGCAAATGCCCCTGTGGCAGAACAGGTGCAGACTCTTTTGACCATAATAAATACACAAACAGGGTTGTGGCCTGCCCTTGGAGCACACCTGCAGGCCCTGGCTGGCCGCATACTCCGGGTCTGCAGGCTTGGGCGCCTCAAGCAGTAGCAGAGGCGCTTCTGCCCTGGCCTCCCCACATCCCTCCAGCCTGCATCTCTGGCTCTTCTGTCTTCCTGTTCTTATTCTGTCTCTCCCTCCTCCTCACTGATCTTTCCACTTCTCTCCAGCTATTGATCTGAAGCTCCATTTACCAACCGGGAGGGTGCCCTTTTGGCCTGCTCGTGCTCTCCACGGGACGCTGCCTCTCAGCTGCCTGCCAGGAGGCGGCCAGCCAGCACACGCTGGTTGGGACCGTCTGTCCGTGTGTTCTTCTGCCTTAATCCTCAGGGCGGGGACTCGCTATACCCAGAAGTCTGTCAGTTGTGGTGCCTACAGGATTACGGGAATAGATAGGCATTCGCTTATGACCTCAGAGTTAGTAAATAAAGGTGACAGCATCTTGTATCTCCCTAAAGAAACATGTTGTCACAGGCGCAGGTGGTTTGCTTTATACACTTCTCCACAGCATTCCTCCAGCTGCTCAAACTTTCAGGGATTTTCCTGCACAGGTTTCCTCAGGATACGGCGTGTTTGAGGATTCTTAGGGATTCTGGAGAAACCTAAGGCCTCTTGGATTCCAGGTTTGGTTCTGCATCATCATTCACATTGGTCCTTCCTTTGCTTTTGTTGGATTCACAGATGTCTGGTTCTCAGTTCTCTCACTTTTTGTATCAGGATTTGTTTTTTGTGGATATGTCCCCTCTATCATCCCAGACTGTCAAGTCATAGGACCAGCTATGTTTTTTTCACGTGCACAGGGCCTAGAAGTATGCTTTGCGTTTTGCTAACACCAAGCAAATGTGTGTTTGCGGGGCTGATGCTGTCAGCAAATATCCACAAAGCCATGGGGTGCACAGCCTCTCAAAGGAGGAGACTATAGGCCTTGTGGAGAGTTTGTGCGCTCTGGGTTTTCAGCCTGGTTCCTTTGGTCTGTCTTTGAACAAACGCTTTTGAATGTCTCCTGGGAGCCAGGCATTGTGCCAAGGACAAGCAGACAATGAGGATGCTTTCTTCCTATCCCCAAGGAGCCTGTGGGGTCCTGGGAGTGACAGACAGCAGAGGAAGAGTGGCACACAAAGCAGTGGCACACAATGGCTCCCGAAGGCCAGGGGATGCTGAGTTACCTTGACACTTGGCCCATAGCTGTGAGAGCCTGCAGAGGCCCACAGAGGGGTGACATGTGACATAGATAACACCTCCAGGAAGATTAGGTGGGAGGAGGGAAGTACATTCCTGGCCCAGGGCACAGCACACACCAAAGCACGGGGATTTAAAAGAGCCAGAGAGGCGAGGCATTCCATGATAAGATGCACACAGGATAAGTAGGATAAGTGTGGAACCAGGCTTGCCTCTGAAGGCAGGAGAGTGGGGAGCGGAGTCCCGGGCCAAGGGGGTGGCTGACCTGGGAGATGGGTGTGAACGTGGGCCCTGGACCGGAAGCAGCACCATCCTCATCCCTGCCTCTCAGCAACCCCACAGGTCAGGTGGCAGCCTCCCCATTACCAGGTGAGGAAACTGAGGCAGTGTCCAAGTGTCTGACCCCAGAGCCTCTGCACCTCCAGCTTTTCATGCAGATTTTGGACATCAGGAGATAACCAAATATAGAACCTCCCCACCCTACTCCTCATACCTGCCCAGGTGGGCATTGATTTTTCCATATGCATTAGGATGAGATCCTAAAAATTGCCTTACCAATAGAACTAAATGGATTCTAATCCTTTTTAAATTCTCAGGTCTCTGCCCTTCATAGACGCATAAAGGCTATCGTAGAGGTGGCTGCAATGTGTGGAGTCAACATC
|
pathogenic
| 323,865 |
A genetic variant at chromosome 22, position 25769298, affecting gene MYO18B (myosin XVIIIB)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic
|
CAGTAACAAGGCCTGGGAAGGGAGCAGGCAGTGGAAACCCCTTGGGTGTTATGCAGTCACAAATGTCTGGGTCAGGCAAGAGTGGGGGACCCCAGGGGCAGAAACCAGGGCCCTCAGCTGGTATGGGAAGTGTGATATGGGGATCAGGGCAGTGGAAGTAGCAGCAGCTCGGTTTATTCTTCTCTCTCTGATCTCCAAAGTGCATTTCTACATCTCATCCTATAAAAGATCTGGATGGTCAGGTGGTATCTGCCTGTACTGGGGAAACCCGAAGCCCAGAGAGAAGAGATGGTAGCCCAGATAGACATAGAAGGAAGCCTAGCTGGAGAGTGTTAGAGCCAAGGTGAGAACAGGTCCTCTAGTGACAGGCCCTGAGTCCTTTCCTGGATCCCCTACTCGCCTAGGAAAAATCCAGGCAGAAATAACAACAGTAGTAGCAGCAGCTACTGTTGTTGAGGACACACTATGCGCTGGGCTCAGTTTCTACATATTGTCACACATTCTCACACCTACCCTGCAAGGTAGGCTTTTATCATTCTCATTTTATTGATTAAAAAACAGACTCAGAGAGGAGAAGTCATTTAGCTAAGGTCACACAGCTATAGAGTGTCAGAGTCAGGAGTTGAACTTGGTTCTGTTGGGCTCCAAAGTCCACTCCTTCCACTCCATCACTCAACTTTGAGGGGCTAGGCCAAGGTCAAGGGTGCTAGGCTTGGCCATGCCTGTTGGATTTGGAGGTGCTCGAGCATCTGTGGAAGGATGAATGGAGAAGTGAACAATGAAATGAATGAACGAACACGAGTGAATGACAAAGCTGTCAGGTCAGCAAGCAGCTATGTAGGCATGGTTGTGTTCTTTCTCCCAGATCCCAGAAATTTCCATCAGCCAACCCAACAGCAAGTCCAGCAGTGGCACCAGATCTGGAAGCCAGCAGATCTCTCAGGACGACCAGTCAAGCTCTCCTGGGAGCTCAGACATTCTGGGCAAGGAGAGCGAGGGGTCCCGCAGCCCCGACCCTGAGCAGATGACAAGCATCAATGGTGAGAAGGCCCAGGAGCTGGGCTCCAGTGCGACACCAACCAAAAAGACTGTCCCCTTCAAGAGGGGCGTGAGGAGGGGTGATGTGTTGTTGATGGTGGCCAAGCTGGACCCGGACTCAGCCAAGCCAGAGAAGACTCATCCCCATGACGCCCCCCCTTGCAAGACCTCTCCCCCCGCCACAGATACTGGAAAGGAAAAGAAAGGGGAGACCTCTAGGACTCCTTGTGGCTCCCAGGCCAGCACCGAGATCTTGGCCCCGAAAGCTGAGAAGACCCGGACTGGGGGTCTTGGGGACCCAGGCCAAGGAACTGTGGCACTGAAAAAAGGCGAGGAGGGTCAAAGCATAGTGGGGAAGGGGCTTGGGACCCCCAAGACCACAGAGCTGAAAGAGGCTGAGCCCCAGGGCAAAGACAGGCAGGGGACCAGGCCCCAAGCCCAAGGGCCCGGCGAGGGGGTGCGACCAGGGAAAGCAGAGAAGGAGGGAGCAGAGCCCACAAACACGGTGGAAAAGGGGAATGTCTCTAAGGACGTAGGGAGTGAAGGGAAGCACGTAAGGCCCCAAATCCCTGGGAGAAAGTGGGGAGGTTTCCTGGGAAGAAGGAGTAAGTGGGACGGTCCCCAGAATAAGAAGGACAAAGAAGGGGTGCTCTTAAGTAAGGCAGAGAAGACAGGTGAGCCTCAGACCCAGATGGAGAAGACAAGCCAAGTGCAGGGCGAGTTGGGGGACGATCTGAGAATGGGGGAGAAAGCAGGTGAGCTTCGGAGCACGACTGGGAAGGCAGGTGAGTCCTGGGATAAGAAGGAAAAGATGGGGCAACCCCAGGGTAAGTCCGGGAACGCAGGTGAAGCTCGGAGTCAGACAGAGAAGGGCTGTGAAGCCCCAAAGGAGGTGAGCACAATGGTGGAGTCGCCAGCAGCTCCTGGGAAGGGAGGCTGGCCAGGAAGCCGTGGGCAGGAAGCAGAGGAGCCCTGCTCAAGAGCAGGTGATGGGGCTGGTGCCCTGGAGACAGAGCTGGAAGGACCCAGCCAGCCTGCTCTGGAGAAGGATGCAGAAAGGCCTCGGATACGGAAGGAGAACCAAGACGGGCCAGCCCCGCAGGAGGAGGGCAAAGGAGGCCAGAGCAGAGACTCAGACCAGGTGAGGGGGCTGCGGCCCTGGGAGCGGGAAGCGGCAGACAGGCCTCTCCAGAGATGCAGGGATGGGAAAGATCTGCCCCAGGGATGGACAAGGGGTGGACGGGGGGTGGGCAGGGAATTGGAGAGGGGTGGCTGGAACTGCAAGGCACCCAGAGGAGGGGACGAGCACTTCCTCCATGAGCAGAAGTCTTGAAGTTTCCATTGCACCTGCCCTGGGGTGGGAATTCCCCACAGAGTGAGGGAAGGTCCCCAAAGTGTGAGGTGTCTCCTCACGGCTGACATGGTAGAGCTTGCTTATGATGTCACACGACAGCTTTCAAACGGGATGGCATAACGAGTAGATTGTTAAAAATGCAGATTCCTGGGGCCAGCCATGGAGTCTCTCATTTCAAAGGCCAGGAGTGGGGCCCAGGAATCTGCATTTATGTAGTATTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTAGATGGTGCAGTGGTGTGATCTCGGCTCCACCTCCCGGGTCCGCAACGGGAATCTGCATTTAAATAAGCACACTCCCTCTCCTGTTCTCCCCCAGGAGATTCTGGTTTAGATGGCTCCAGAGCACACTGTGAGAAACCCCCGTGTAAGGTAGAAGATGGGCAGCGGTGCCATTTGCTGGTTTAATTTACGTGATGTTGGTTCTCAGGCTCCTGAGGACAGATGGTATGAGGCAGAGAAAGTCTGGCTGGCTCAGAAGGATGGATTTACTCTTGGTAAGTAGGGGTGTTAGCACCTTTGGAGGGTCTGAGTCTTCTCCTGTGCCCCCTACTGCTGCCAGCCATATGTTCCAGGTCCTGATTATACTTTGGTGGTCAGGAGGGAAGAGGAGCAGTGGAGACTGTCTTTCAAAGGCATTTGTGTCTTGATAATGAGTTATTTACCTACTGTAACTCACTAATGCAACAAGCATGCTTTCTTCCTACGGCGTTCTTCGAGGAAGCCAGAGTCTGGTACAAGTGGGCCAATAGATTTGATCTCATGAGCCTACTTTTGTCGATTGGTTGTGGCTGATCACTGCACTCTACTGAGAAGTGATGCTGAGTCTCAGTCTGAACATGGCTGGGAAGAGTGGTTGATTAGTGATGTCTGCCATGGGCACTGGAGGGGGAAATGGCAGTCTGTGTGTGAGATAGGCCAGTGTACCCAACTGTCTGGGTGCCTGCTCTGTGCCTGGCACTGTGACAGCTGGTAAAAGCCTAAGGTGAGTCAGACTTAGCCTGACCTTAAAGGATTTGGGGTCACAACTCAGCTCCAAGTGAATAGACCCCAAATGGAGACCTGTCCCAAGCCTTCTCCCAAGCTTGCTGGCCCGGCTTAGAGCCTCTCTTATCTCCTGCCCTCGCCTCTTTCCCCTCTTCCCCTCCCATCTCCTCCCCGTTCCCCTTCTCTCTCTGGGATGTCCAACCAGCTACGGTGCTAAAGCCAGATGAGGGAACAGCAGACCTGCCAGCAGGAAGGGTGAGACTTTGGATTGATGCTGACAAAACCATCACTGAGGTGGATGAGGAGCATGTCCATCGGGTGAGTCCCCTGTCCCGCCGTCCCCCAGCATGAGTCCCCTGTCCCACTTCACCCCAGCTCCATACCCTCCTTCCCCAGTCCTGCAAGAGATTTCCTTGTTCCTGACTACCAATACCATTTTGGCTTGATGCCCTGGAGGGAGTTATAGTGAAGAACCCCACTGAACTCATTGCTCTACTGGAGGGGTACTATTAGGGGGTCATTCACCCTTTCCTGTGGTTTCCCTTAATGAGGACACATCAAAGAACATGTTTGTCAGGTCTTGGCCCTGGGAGTTCTTCTGATGGACCCAAGAAAATGACTGCTTTTAATTTATAGATATTGGATATTGCAAATCATACTACACAGCATGTTTCTGTTT
|
CAGTAACAAGGCCTGGGAAGGGAGCAGGCAGTGGAAACCCCTTGGGTGTTATGCAGTCACAAATGTCTGGGTCAGGCAAGAGTGGGGGACCCCAGGGGCAGAAACCAGGGCCCTCAGCTGGTATGGGAAGTGTGATATGGGGATCAGGGCAGTGGAAGTAGCAGCAGCTCGGTTTATTCTTCTCTCTCTGATCTCCAAAGTGCATTTCTACATCTCATCCTATAAAAGATCTGGATGGTCAGGTGGTATCTGCCTGTACTGGGGAAACCCGAAGCCCAGAGAGAAGAGATGGTAGCCCAGATAGACATAGAAGGAAGCCTAGCTGGAGAGTGTTAGAGCCAAGGTGAGAACAGGTCCTCTAGTGACAGGCCCTGAGTCCTTTCCTGGATCCCCTACTCGCCTAGGAAAAATCCAGGCAGAAATAACAACAGTAGTAGCAGCAGCTACTGTTGTTGAGGACACACTATGCGCTGGGCTCAGTTTCTACATATTGTCACACATTCTCACACCTACCCTGCAAGGTAGGCTTTTATCATTCTCATTTTATTGATTAAAAAACAGACTCAGAGAGGAGAAGTCATTTAGCTAAGGTCACACAGCTATAGAGTGTCAGAGTCAGGAGTTGAACTTGGTTCTGTTGGGCTCCAAAGTCCACTCCTTCCACTCCATCACTCAACTTTGAGGGGCTAGGCCAAGGTCAAGGGTGCTAGGCTTGGCCATGCCTGTTGGATTTGGAGGTGCTCGAGCATCTGTGGAAGGATGAATGGAGAAGTGAACAATGAAATGAATGAACGAACACGAGTGAATGACAAAGCTGTCAGGTCAGCAAGCAGCTATGTAGGCATGGTTGTGTTCTTTCTCCCAGATCCCAGAAATTTCCATCAGCCAACCCAACAGCAAGTCCAGCAGTGGCACCAGATCTGGAAGCCAGCAGATCTCTCAGGACGACCAGTCAAGCTCTCCTGGGAGCTCAGACATTCTGGGCAAGGAGAGCGAGGGGTCCCGCAGCCCCGACCCTGAGCAGATGACAAGCATCAATGGTGAGAAGGCCCAGGAGCTGGGCTCCAGTGCGACACCAACCAAAAAGACTGTCCCCTTCAAGAGGGGCGTGAGGAGGGGTGATGTGTTGTTGATGGTGGCCAAGCTGGACCCGGACTCAGCCAAGCCAGAGAAGACTCATCCCCATGACGCCCCCCCTTGCAAGACCTCTCCCCCCGCCACAGATACTGGAAAGGAAAAGAAAGGGGAGACCTCTAGGACTCCTTGTGGCTCCCAGGCCAGCACCGAGATCTTGGCCCCGAAAGCTGAGAAGACCCGGACTGGGGGTCTTGGGGACCCAGGCCAAGGAACTGTGGCACTGAAAAAAGGCGAGGAGGGTCAAAGCATAGTGGGGAAGGGGCTTGGGACCCCCAAGACCACAGAGCTGAAAGAGGCTGAGCCCCAGGGCAAAGACAGGCAGGGGACCAGGCCCCAAGCCCAAGGGCCCGGCGAGGGGGTGCGACCAGGGAAAGCAGAGAAGGAGGGAGCAGAGCCCACAAACACGGTGGAAAAGGGGAATGTCTCTAAGGACGTAGGGAGTGAAGGGAAGCACGTAAGGCCCCAAATCCCTGGGAGAAAGTGGGGAGGTTTCCTGGGAAGAAGGAGTAAGTGGGACGGTCCCCAGAATAAGAAGGACAAAGAAGGGGTGCTCTTAAGTAAGGCAGAGAAGACAGGTGAGCCTCAGACCCAGATGGAGAAGACAAGCCAAGTGCAGGGCGAGTTGGGGGACGATCTGAGAATGGGGGAGAAAGCAGGTGAGCTTCGGAGCACGACTGGGAAGGCAGGTGAGTCCTGGGATAAGAAGGAAAAGATGGGGCAACCCCAGGGTAAGTCCGGGAACGCAGGTGAAGCTCGGAGTCAGACAGAGAAGGGCTGTGAAGCCCCAAAGGAGGTGAGCACAATGGTGGAGTCGCCAGCAGCTCCTGGGAAGGGAGGCTGGCCAGGAAGCCGTGGGCAGGAAGCAGAGGAGCCCTGCTCAAGAGCAGGTGATGGGGCTGGTGCCCTGGAGACAGCTGGAAGGACCCAGCCAGCCTGCTCTGGAGAAGGATGCAGAAAGGCCTCGGATACGGAAGGAGAACCAAGACGGGCCAGCCCCGCAGGAGGAGGGCAAAGGAGGCCAGAGCAGAGACTCAGACCAGGTGAGGGGGCTGCGGCCCTGGGAGCGGGAAGCGGCAGACAGGCCTCTCCAGAGATGCAGGGATGGGAAAGATCTGCCCCAGGGATGGACAAGGGGTGGACGGGGGGTGGGCAGGGAATTGGAGAGGGGTGGCTGGAACTGCAAGGCACCCAGAGGAGGGGACGAGCACTTCCTCCATGAGCAGAAGTCTTGAAGTTTCCATTGCACCTGCCCTGGGGTGGGAATTCCCCACAGAGTGAGGGAAGGTCCCCAAAGTGTGAGGTGTCTCCTCACGGCTGACATGGTAGAGCTTGCTTATGATGTCACACGACAGCTTTCAAACGGGATGGCATAACGAGTAGATTGTTAAAAATGCAGATTCCTGGGGCCAGCCATGGAGTCTCTCATTTCAAAGGCCAGGAGTGGGGCCCAGGAATCTGCATTTATGTAGTATTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTAGATGGTGCAGTGGTGTGATCTCGGCTCCACCTCCCGGGTCCGCAACGGGAATCTGCATTTAAATAAGCACACTCCCTCTCCTGTTCTCCCCCAGGAGATTCTGGTTTAGATGGCTCCAGAGCACACTGTGAGAAACCCCCGTGTAAGGTAGAAGATGGGCAGCGGTGCCATTTGCTGGTTTAATTTACGTGATGTTGGTTCTCAGGCTCCTGAGGACAGATGGTATGAGGCAGAGAAAGTCTGGCTGGCTCAGAAGGATGGATTTACTCTTGGTAAGTAGGGGTGTTAGCACCTTTGGAGGGTCTGAGTCTTCTCCTGTGCCCCCTACTGCTGCCAGCCATATGTTCCAGGTCCTGATTATACTTTGGTGGTCAGGAGGGAAGAGGAGCAGTGGAGACTGTCTTTCAAAGGCATTTGTGTCTTGATAATGAGTTATTTACCTACTGTAACTCACTAATGCAACAAGCATGCTTTCTTCCTACGGCGTTCTTCGAGGAAGCCAGAGTCTGGTACAAGTGGGCCAATAGATTTGATCTCATGAGCCTACTTTTGTCGATTGGTTGTGGCTGATCACTGCACTCTACTGAGAAGTGATGCTGAGTCTCAGTCTGAACATGGCTGGGAAGAGTGGTTGATTAGTGATGTCTGCCATGGGCACTGGAGGGGGAAATGGCAGTCTGTGTGTGAGATAGGCCAGTGTACCCAACTGTCTGGGTGCCTGCTCTGTGCCTGGCACTGTGACAGCTGGTAAAAGCCTAAGGTGAGTCAGACTTAGCCTGACCTTAAAGGATTTGGGGTCACAACTCAGCTCCAAGTGAATAGACCCCAAATGGAGACCTGTCCCAAGCCTTCTCCCAAGCTTGCTGGCCCGGCTTAGAGCCTCTCTTATCTCCTGCCCTCGCCTCTTTCCCCTCTTCCCCTCCCATCTCCTCCCCGTTCCCCTTCTCTCTCTGGGATGTCCAACCAGCTACGGTGCTAAAGCCAGATGAGGGAACAGCAGACCTGCCAGCAGGAAGGGTGAGACTTTGGATTGATGCTGACAAAACCATCACTGAGGTGGATGAGGAGCATGTCCATCGGGTGAGTCCCCTGTCCCGCCGTCCCCCAGCATGAGTCCCCTGTCCCACTTCACCCCAGCTCCATACCCTCCTTCCCCAGTCCTGCAAGAGATTTCCTTGTTCCTGACTACCAATACCATTTTGGCTTGATGCCCTGGAGGGAGTTATAGTGAAGAACCCCACTGAACTCATTGCTCTACTGGAGGGGTACTATTAGGGGGTCATTCACCCTTTCCTGTGGTTTCCCTTAATGAGGACACATCAAAGAACATGTTTGTCAGGTCTTGGCCCTGGGAGTTCTTCTGATGGACCCAAGAAAATGACTGCTTTTAATTTATAGATATTGGATATTGCAAATCATACTACACAGCATGTTTCTGTTTNN
|
pathogenic
| 323,964 |
Is the genetic variant on chromosome 22, position 25950345, gene MYO18B (myosin XVIIIB), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
CCATCCATGCAGCCATCCATTCATTTATCCATTCATCCATCCTACCACCGCTTACCCATTTATTCACCTATCCACCTATCCAACCATCATTTTCTTTTCTTTTTCCTGTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCCTCTCTTTTCTCTTTCCTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTTTCTCTTTTTCTTCTTTCCCCCTCTTTCTTTCTTTCTTCTTATCTTTCTATCTGTAGCTATTTATTCAATATTTACTGAATCCTTGCCATGTGTTAGGCACTGTGAAAAATGCTAAGTATATTGTGGTGATCAGAAGCACATCCCATTCCCACCTTCATGTACCTCACAGTTTAGTGGGCTGGGAAGACCTTATCATATGGTCACCCAGAGCAGAGGGCAGACTTGCAAACTGAGCCAAGAGTCCAGAAAGGAAGTGTACACAATTCTGCAAATCCTGACCTAGGTTGGGAGTCAGGAAGGGCTTCCCAGAGTAGGTGTCATTTGGATGGAGATCTGAACAAAGAATAGGAGTCACTTAGATTGGAGTGGGACATTGGGGATTGGGGGTGCCTTCCAAGCAGAGGAAATAGCACATACAAAGGGCCTGTGATGGTGCATTGGAGAGACTGAAAGGAGACCAGTGAGGACAATCTGGCACAAGACAAGCTCAGCAAAAGAAGAGGATCAGATCAGGGTCTTAGAGGCTGTTATGAGATTGGGTTTTATTTTATGGTTGAAGGGAATCAATTGGCAAGCTTTTCAGGGGCAAGAGCAGTTGGAGAGGAGCAGCCAGCATGCCACCCCAGACTGTCATCTCCATAAAGGCAGGACTCTCCTCTGCCTTGTCCAGTGCTGTATTCAGAGCCAAGAAGGGTGTCTGCCCTGGAGGTGCTCAGTAAATCACTGTTGAATAAATGAAAGCTGACTTTGTCCAGGGGAAAGACAACTCCAGCCTGGTAGATGGAGTGAAGATGAGGAGGAGTGGATGGATGGGCTTGGGAGATGATCGGGAGCCATGAGGGCAGCATGGGTGAAACAGAAGCTTTGGGGTGAAGCTGAGGGGTATGATGTGGAATCCCCAGCAGATCTCCACATAATGACTGCATAATGGGGAGAACAGCTCCCTCCTTGCAATACACCATCCAGAGGAGAGCCGGGGTAAAATACCTGCCACGCTCTAAATGCATCTGACAGAGGTTGGATCTGAAGGGATTTCTGCTGGACAAGGAATAATAATAACAAAATAATTGATGATATCATCCACATGGTAACAAACACCACAAAAATAGCCTATGCCAATGTCTCCACTTGCGAATCACACTTATTTTTGCCTCAAAGAGAGGTTAATCTGTTCAGTTACAAAGGCACTATATGCATATGCCCATAATAAATAATTTAAATAATAAAGATACAAGAAATAGAAAGTAAAGAGGTGTTTCTACCCTCTAGAATTCCTCTCTTCAGAGGTAATGAAGCTCAACAGTTGGTTCTATTTTAAAAAAAACCTTTACTCTCCACTGCTTAATTTGATCTCTGAACAAACCCAATACGGAAAGGCTGAGCTGAGATTGTCAGTCCGTTTTACGAATGCAGAGACTCAGGTGCAGAGAGGCTCCACAGCTTGCTAAGGCCAGGGTCCAGGTCTAGAAGCTCAGTTAAATGACCCTCCGAGTAGCTCTCATCCCTCGGAATCTGGTCCTAGTGCCATGGCCAGCCCACTTCTGTCTGGGTTCTCAAGGGTATATAATAAAATGCTGGACAGTGGACCAAATCCAGGGGCTTATATAATTGGAGTGACTCAGCGAACATTGAAATGAAAGATGGTGAGGAGGATGTGAGAGGTAATTTTTGGGAAACAGCTATTATCATAGAAGCTCTGAGAGATGTAGACATCTGTGGGTGGGGAAAGTAGGGATTTTCAGGGGTGGTTTCCCAGCAAGGCTTGTGGACTCAGGGTGATATATATACATTTTTTTTTTTGTCTCACCAGTCTGCTGCTGACATTGGGCAGATCCAAGAACTGCAGCTGCAGCTGGAGGAAGCCAAGAAGGAGAAGCACAAGCTACAAGAACAAGTATGTGCTCAGAGCCATCCTATAGTTGTATTAGTCAGGGTTTTCTTAGAGGGACAGAACTAATAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGAGTTTATTGTTTGTTTATTTGTTTATTTATTTTTGAGACAAGAGTCTCACTCTGTCACCCAGACTGGAGTGAAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTGCCAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCGCCACCATGCCTGGCTAATTTTTGTTTTTTAAGTAGAGACGGGGTTCTACCATGTTGGTTAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCGCCCTTCTCAGTCTCCCAAAGTGCTGGGATTATAGGTGTGAACCACCAGGCCCAGCTGGGAAATACGTTAAGTATTAACTTACATGACCACAAGGTCCCACAATAGGCCTTCTGCAAGCTAAGGAGCAAGGAGAGCCAGTCCGAGTCCCAAAACTGAAGAACTTGGAATTCAATGTTCAAGGGCAAGAAGCATCCAGCACGGGAGAAAGATGTAGGCTGGGAGGCTAAGGCCCATCTCTCTCCTTTTCACGTTTTCCTGCCTGCTTTATATTCTCTGGAAGCTGATTAGATGGTGCCCACCAGATTAAGGGTGGATCTGCCTTCCCCAGCCCACTGACTCAGATGTTAATCTCTTTTGGCAACAACCTCACAGATACACCCAGGATCAATACTTTGTGTCCTTCAATGGAATCAAGTTGACACTCAGTATTAACCATCACAGGGAGGAAGAGAGGGATTCTCCCTGGGCACTTACTTATACTTTGGCTCCTGGAAACTGTTTCCTTCATTCTTTTATTCATCAGTTCATTCAAATACTCACTCAATTCCAGTTGTGTGCGAGGTGAATTGAGACCAGTCCTTAGACAGACACATGCACACACACTCACACTCATTTACTCTTGGCCTGTGCTTGTGCTGAATCCAAGCGTGCCCCATGCACTGAGATTCAGCCATTCAGTGCAGAATTTTCTCCGTCTGAGAAATGGCTCCAAGAACAAGAGATGGTCTGTGCAAGACAGGATCACGATCCTCTGCGAAATCTTCCTTTGAAGTCATGGTCCCTCCAAACATCTCTGGCTTTCCATCATTACCTAGAGGGTTGCTATTATCCATGAAATTTTCAAAGCTCTTCTAGAACCCTGGCATGCACCTGCTTAAAGTGACTGTTGGAGTGACCAGGTCTCAAGCAATTTCCTATGGGTGCTGGATAACAACACGCACAACAAATGGAACAGCAGCAGTGGCCATTTGCTGGCTGCTTATTATGTGCCAGTCACTAATCTCCTCTAATCCTCACAAGAAAAATGAAGAAACCAAGGCTCAAGGAAAGGAACTGACTTTCTCAGACTCACACACCAGGCAGAAACCTGGCTCCCAAACCCACACTTGCTTGTATCTTTTGATGCTGTAGCTTGTTGCTCACAGACTAGCTTTGCTCCTTGATCAGAGCAGGGAAGGAGAGAAGGGAAGCACTGATTAAAAGTCTTGTTTTCAATTGTGAAGGCATAAGAAGCATCACCTCCCAGCACCTGAGACCCAGGATCAGGGTCTGGTGTGAGGGTCCAGTGAAGGTCCCAAGATTGACACCTGGCCATTCTTGCTTGTGCAGACATTTAACATGCAGCACACCTGAGTAGAGAAGGAGGTGGTGTGAATAGCTCCTCCCACCCTCCCAGGCTGGGTCCTGCACATGTCTCTGTCCTGGTATCAGGGACAACAGATGTCCAATAGACTTCTCTCATACTTACAGCTGCAGGTGGCTCAGATGCGCATCGAGTACCTGGAACAGTCCACCGTGGATCGAGCCATCGTCAGCAGGCAGGAGGCGGTCATCTGTGACCTAGAGAACAAGACAGA
|
CCATCCATGCAGCCATCCATTCATTTATCCATTCATCCATCCTACCACCGCTTACCCATTTATTCACCTATCCACCTATCCAACCATCATTTTCTTTTCTTTTTCCTGTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCCTCTCTTTTCTCTTTCCTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTTTCTCTTTTTCTTCTTTCCCCCTCTTTCTTTCTTTCTTCTTATCTTTCTATCTGTAGCTATTTATTCAATATTTACTGAATCCTTGCCATGTGTTAGGCACTGTGAAAAATGCTAAGTATATTGTGGTGATCAGAAGCACATCCCATTCCCACCTTCATGTACCTCACAGTTTAGTGGGCTGGGAAGACCTTATCATATGGTCACCCAGAGCAGAGGGCAGACTTGCAAACTGAGCCAAGAGTCCAGAAAGGAAGTGTACACAATTCTGCAAATCCTGACCTAGGTTGGGAGTCAGGAAGGGCTTCCCAGAGTAGGTGTCATTTGGATGGAGATCTGAACAAAGAATAGGAGTCACTTAGATTGGAGTGGGACATTGGGGATTGGGGGTGCCTTCCAAGCAGAGGAAATAGCACATACAAAGGGCCTGTGATGGTGCATTGGAGAGACTGAAAGGAGACCAGTGAGGACAATCTGGCACAAGACAAGCTCAGCAAAAGAAGAGGATCAGATCAGGGTCTTAGAGGCTGTTATGAGATTGGGTTTTATTTTATGGTTGAAGGGAATCAATTGGCAAGCTTTTCAGGGGCAAGAGCAGTTGGAGAGGAGCAGCCAGCATGCCACCCCAGACTGTCATCTCCATAAAGGCAGGACTCTCCTCTGCCTTGTCCAGTGCTGTATTCAGAGCCAAGAAGGGTGTCTGCCCTGGAGGTGCTCAGTAAATCACTGTTGAATAAATGAAAGCTGACTTTGTCCAGGGGAAAGACAACTCCAGCCTGGTAGATGGAGTGAAGATGAGGAGGAGTGGATGGATGGGCTTGGGAGATGATCGGGAGCCATGAGGGCAGCATGGGTGAAACAGAAGCTTTGGGGTGAAGCTGAGGGGTATGATGTGGAATCCCCAGCAGATCTCCACATAATGACTGCATAATGGGGAGAACAGCTCCCTCCTTGCAATACACCATCCAGAGGAGAGCCGGGGTAAAATACCTGCCACGCTCTAAATGCATCTGACAGAGGTTGGATCTGAAGGGATTTCTGCTGGACAAGGAATAATAATAACAAAATAATTGATGATATCATCCACATGGTAACAAACACCACAAAAATAGCCTATGCCAATGTCTCCACTTGCGAATCACACTTATTTTTGCCTCAAAGAGAGGTTAATCTGTTCAGTTACAAAGGCACTATATGCATATGCCCATAATAAATAATTTAAATAATAAAGATACAAGAAATAGAAAGTAAAGAGGTGTTTCTACCCTCTAGAATTCCTCTCTTCAGAGGTAATGAAGCTCAACAGTTGGTTCTATTTTAAAAAAAACCTTTACTCTCCACTGCTTAATTTGATCTCTGAACAAACCCAATACGGAAAGGCTGAGCTGAGATTGTCAGTCCGTTTTACGAATGCAGAGACTCAGGTGCAGAGAGGCTCCACAGCTTGCTAAGGCCAGGGTCCAGGTCTAGAAGCTCAGTTAAATGACCCTCCGAGTAGCTCTCATCCCTCGGAATCTGGTCCTAGTGCCATGGCCAGCCCACTTCTGTCTGGGTTCTCAAGGGTATATAATAAAATGCTGGACAGTGGACCAAATCCAGGGGCTTATATAATTGGAGTGACTCAGCGAACATTGAAATGAAAGATGGTGAGGAGGATGTGAGAGGTAATTTTTGGGAAACAGCTATTATCATAGAAGCTCTGAGAGATGTAGACATCTGTGGGTGGGGAAAGTAGGGATTTTCAGGGGTGGTTTCCCAGCAAGGCTTGTGGACTCAGGGTGATATATATACATTTTTTTTTTTTGTCTCACCAGTCTGCTGCTGACATTGGGCAGATCCAAGAACTGCAGCTGCAGCTGGAGGAAGCCAAGAAGGAGAAGCACAAGCTACAAGAACAAGTATGTGCTCAGAGCCATCCTATAGTTGTATTAGTCAGGGTTTTCTTAGAGGGACAGAACTAATAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGAGTTTATTGTTTGTTTATTTGTTTATTTATTTTTGAGACAAGAGTCTCACTCTGTCACCCAGACTGGAGTGAAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTGCCAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCGCCACCATGCCTGGCTAATTTTTGTTTTTTAAGTAGAGACGGGGTTCTACCATGTTGGTTAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCGCCCTTCTCAGTCTCCCAAAGTGCTGGGATTATAGGTGTGAACCACCAGGCCCAGCTGGGAAATACGTTAAGTATTAACTTACATGACCACAAGGTCCCACAATAGGCCTTCTGCAAGCTAAGGAGCAAGGAGAGCCAGTCCGAGTCCCAAAACTGAAGAACTTGGAATTCAATGTTCAAGGGCAAGAAGCATCCAGCACGGGAGAAAGATGTAGGCTGGGAGGCTAAGGCCCATCTCTCTCCTTTTCACGTTTTCCTGCCTGCTTTATATTCTCTGGAAGCTGATTAGATGGTGCCCACCAGATTAAGGGTGGATCTGCCTTCCCCAGCCCACTGACTCAGATGTTAATCTCTTTTGGCAACAACCTCACAGATACACCCAGGATCAATACTTTGTGTCCTTCAATGGAATCAAGTTGACACTCAGTATTAACCATCACAGGGAGGAAGAGAGGGATTCTCCCTGGGCACTTACTTATACTTTGGCTCCTGGAAACTGTTTCCTTCATTCTTTTATTCATCAGTTCATTCAAATACTCACTCAATTCCAGTTGTGTGCGAGGTGAATTGAGACCAGTCCTTAGACAGACACATGCACACACACTCACACTCATTTACTCTTGGCCTGTGCTTGTGCTGAATCCAAGCGTGCCCCATGCACTGAGATTCAGCCATTCAGTGCAGAATTTTCTCCGTCTGAGAAATGGCTCCAAGAACAAGAGATGGTCTGTGCAAGACAGGATCACGATCCTCTGCGAAATCTTCCTTTGAAGTCATGGTCCCTCCAAACATCTCTGGCTTTCCATCATTACCTAGAGGGTTGCTATTATCCATGAAATTTTCAAAGCTCTTCTAGAACCCTGGCATGCACCTGCTTAAAGTGACTGTTGGAGTGACCAGGTCTCAAGCAATTTCCTATGGGTGCTGGATAACAACACGCACAACAAATGGAACAGCAGCAGTGGCCATTTGCTGGCTGCTTATTATGTGCCAGTCACTAATCTCCTCTAATCCTCACAAGAAAAATGAAGAAACCAAGGCTCAAGGAAAGGAACTGACTTTCTCAGACTCACACACCAGGCAGAAACCTGGCTCCCAAACCCACACTTGCTTGTATCTTTTGATGCTGTAGCTTGTTGCTCACAGACTAGCTTTGCTCCTTGATCAGAGCAGGGAAGGAGAGAAGGGAAGCACTGATTAAAAGTCTTGTTTTCAATTGTGAAGGCATAAGAAGCATCACCTCCCAGCACCTGAGACCCAGGATCAGGGTCTGGTGTGAGGGTCCAGTGAAGGTCCCAAGATTGACACCTGGCCATTCTTGCTTGTGCAGACATTTAACATGCAGCACACCTGAGTAGAGAAGGAGGTGGTGTGAATAGCTCCTCCCACCCTCCCAGGCTGGGTCCTGCACATGTCTCTGTCCTGGTATCAGGGACAACAGATGTCCAATAGACTTCTCTCATACTTACAGCTGCAGGTGGCTCAGATGCGCATCGAGTACCTGGAACAGTCCACCGTGGATCGAGCCATCGTCAGCAGGCAGGAGGCGGTCATCTGTGACCTAGAGAACAAGACAG
|
benign
| 324,073 |
Is chromosome 22, position 26453305, gene HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Hermansky-Pudlak_syndrome_4']
|
CTGTGGGATTAACCGTGTCCTGAGTGACCCCCTGAAACCTCTGAAATATTAAAAAACGGGAAAACAGCGGGTTAAGTGTTTCTTCTCTGCAGCCTCTGGGCCACAGTTACCAAGCTTTAGAGATGACGGCTGCAGCTGCCAGTGCCCTGGGGCTCTGAGCAGAACCTCCACTGCAGAAACTAAGCAGGATCAAAGGAGGAAAGAAAGGGGCACACCTGCAAAGTGAAGTTTCAGGACTTTACTTTTTCTGAGTTAATCCAGGTGCATGAGACTTTTCCATATACACGGATAGGCTTTGTACGGTTCCATTTTGGGTCAGTGGAAGAATTTTCACAACACAAATGACATTATAAAGTTGTCTTCGCTGGCCTGGTACTGGGGACCACTGGTCAAAGACAACGTGAGACATTGCGGGGACTTCCTGGAGCTGCAGCAACCACAGCAGAGAACTTGTAATCAATTTTTTCTGGGAGAACATAGCAGAGGAGTAAGACAACATTTATCCTAGCTTCGGATAGGATCCTCTTCCATCTAGGCAGATGGGATCCAAGAGACAGCAGAGATCCTGGAGAGAGGTGATAGAAGAGGGAGACACAGGCTTGGTGTATTGGATCAGCTGCAGCTGGTGCTCCCTGGAGCAGCAGGCTGCAGCCTGGCAGCCCTACAAACAGACGGTCCTTACCCAGCCACACTGAACCCAGGGAAGGAAAAGAGGGATGCGCCCACGTTACGCGCGCGCGCGCGCGCGCACACACACACACACACACACACACACACACACACACACTGTCTTAACCCTTACCTTTGTCACAAAAAAATGCTGCCATTTAATTACTCAGAACTCCAGCATTTTTTGGCTATTTTATTTCTAGCCCTTGGAAGCTTGTTTCAAGAAAAAGACACCATATCATAAACATCAGATATCAGTTCACTGACATGAAATTATTAACAATACAACTCTCAAATGGAATCTCAAGTACTTCCAGTAAACATTCAGTTAAGATTTTGACAAATATTTTCATCCTGCAGTCTGTCTCATACTGTCAAAAAAATGTCTGACTATAACGTAATAGAACTGAGGTTCTAAGTACCACACAAGCCCAGGAACACACAGCTGAGTGTCGCTCCCTTTCACGCAGCCACCACTGAAAAGCACAGTGCTTTTACCCCCAGACATCTTGTAAACTCCTATTTAGGGACACTCGCTCGAGAGGAACCAGCTGCACGGCCCACTTGTAGTCAAAGGCAGCGCAGGTTGGTCCTGTTGTCACTGAATTCTCAGGGCTCAGCCCCCAGAGCTTTTATAAAGGGATCTCTAAAGCCCAAACTCCCTTCCATATTATTAAGGCTTGCCCCCATTGTGGGTCCAAAGAAGACGCCCCTAGATTTGAGTAGAGTTCCAACAGAATTCAACCAAGTGGTCTCCGTGTGCTGCCGCTTCCCTGCAGGAACGATCCGGACCTCCCAGCAAGAGCGCACTGGAGAAACCTACCTGCGGCGTGGGAGTGGAGTCGGCCTGCTCACAGATCCGGCACCTCGCTGTGCAGTCACACCGCCTACCACCACCTGGTGTGGGGGTTGAACACACACACTCTGGGCTAGTGGACGATCAGGTTCTAGAAAAAATGCCAACTTGGAAGCTTGTGGCACCAATTCAAGCTGGGATGGAACAGCAGGAGATATGAAATACCTCAGGCTCAGTATGGCAGAGAGGGAGCCAAGCCCGTCCCGGCCCCAACACTACCGATTAAATACAGTTCTTTATCAAGTGCTCTGGGTCTGCCGACCTGAAGAACTAACCCCTGCCCCCAAAACACATCCCAATCTGCAAAAGGAATAACAAAAACTCAAATATCATTTGGTTCCTAAAAAAGGGAATGTTTTCAAGAAAAATAAAATAGAGGGGCCTTTTCAATTATAAAAGGCAGAGCTTCCTTTGCTGGTTTTCTCCTTCCCAGTCACCTCCTGGGTGCAGTTCAGAGCAAGTTCACCCCGTGCTTCAGCAGCTTCTGCTTTGCTTTGCCGGAGAGGCTGAAGGCGCCATCCTGAGGGTTTGGGAAGCCGGAGCTCCGTGCTGCAGGTGCCAGCTGCTGGAAATATGTCTCCTGGATGGGGTTGCAACAGGCGTACACAGCCGTGGAGGCATTTCTGTTGGAGGAAGAAAGAAGGCAACGGTCCAATGCTGCTGGTGCTAATCTCAGACCACACAGAGACCTCAGTAAGGTTCTTGTCACAGAGGACCCAGGACACCCAATGTGGCATGTGCAGCTGTCATGGCACGGAATTCTATTTCTTCAGCTGAGTTTCAGGCTTCAGTGCCAATACCATCTTTCCTTCCTTTCAGCTCACTAGATGCTGGAAGAGTCCGTGGCGGGACCATCCACAGTGGCAGCAGCCACAGATCCTGGAGTTATAAGTATTGCATAAAGGAACTGTGGAGTGCTGGCTTTTTTGACATACTGGCAGCTATGCAATGTGCTCTGCATACAGTCTCTGCTTTGCCCCTCACATAAGCTCTGCAGTGGTGGTATGGTCCCATTTCACAGACAAGGACCCTGAGGCTCAGAGTGAGTAGCTGGGGCTGCCCTGCCTCTATGACGAGGCAATGGCAGTGTCCGAGAAAGGAGTCTAGTCTGCTCTCCACACTGGGGGTGGCTGGATAGACTGAGAGGGAGTGAAGGACAGGAGTGGGATGTGACACGAAGTGACAGGAAGCCTGTGGACACAGAGAGGGAGGGATGAGGGCACTACACAGAGGCGGAGCCACCTGGGAGGAGCCAACTCCAGGCCAAGGTAAACAAACCCCCCTGGTTTCTGGATCCTGCCTCTCCAACTATTATGGGCCTCAGTTTCCCCCAAATCTAGTGAGAAAGGGTGGAGTCAGGGACTGCTAAGGCTCCCCTCACTCAATTCTCTCCTTCCCTGTAAGGGAGAAAAATCCCACCCTATTCCAAGCTTCAGTGTCTCCTGCACCCACTGGCCCAGCAAGACAATCTCTTCTCACAGCCCTGTGGGAGGGCTCCGAGGCCAGATGGTTATGAGCATGGATCTGGAGTCACACACACTCAGGTGCTAATCCCAGCCCTATTACTTCCTAGTGTGTGTCCTGGGCTGCTATTCAACATTTCTGAGTCCCAGCTTTTTCATCTGTACAGTGTTTGTTGCAACAGTATGTGTCCTCATTGGTGTTTTTGTTTTGTTTTGTTTTAAAGAATGAGATTAAGTGAGTGCTTAACACATTGTGAGTGGTTAAGAAATGGTAGCTGTTCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTACACAAAAATTAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGCCAAGGACTTCACATCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAACGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGCAATGCAAATCAAAACCACAATGAGATACCATCTCACATCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCAACCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATAGCGGCACTATTCACAATAGCAAAGATTTGGAACCAACCTAAATGTCCAACAACGATAGA
|
CTGTGGGATTAACCGTGTCCTGAGTGACCCCCTGAAACCTCTGAAATATTAAAAAACGGGAAAACAGCGGGTTAAGTGTTTCTTCTCTGCAGCCTCTGGGCCACAGTTACCAAGCTTTAGAGATGACGGCTGCAGCTGCCAGTGCCCTGGGGCTCTGAGCAGAACCTCCACTGCAGAAACTAAGCAGGATCAAAGGAGGAAAGAAAGGGGCACACCTGCAAAGTGAAGTTTCAGGACTTTACTTTTTCTGAGTTAATCCAGGTGCATGAGACTTTTCCATATACACGGATAGGCTTTGTACGGTTCCATTTTGGGTCAGTGGAAGAATTTTCACAACACAAATGACATTATAAAGTTGTCTTCGCTGGCCTGGTACTGGGGACCACTGGTCAAAGACAACGTGAGACATTGCGGGGACTTCCTGGAGCTGCAGCAACCACAGCAGAGAACTTGTAATCAATTTTTTCTGGGAGAACATAGCAGAGGAGTAAGACAACATTTATCCTAGCTTCGGATAGGATCCTCTTCCATCTAGGCAGATGGGATCCAAGAGACAGCAGAGATCCTGGAGAGAGGTGATAGAAGAGGGAGACACAGGCTTGGTGTATTGGATCAGCTGCAGCTGGTGCTCCCTGGAGCAGCAGGCTGCAGCCTGGCAGCCCTACAAACAGACGGTCCTTACCCAGCCACACTGAACCCAGGGAAGGAAAAGAGGGATGCGCCCACGTTACGCGCGCGCGCGCGCGCGCACACACACACACACACACACACACACACACACACACACTGTCTTAACCCTTACCTTTGTCACAAAAAAATGCTGCCATTTAATTACTCAGAACTCCAGCATTTTTTGGCTATTTTATTTCTAGCCCTTGGAAGCTTGTTTCAAGAAAAAGACACCATATCATAAACATCAGATATCAGTTCACTGACATGAAATTATTAACAATACAACTCTCAAATGGAATCTCAAGTACTTCCAGTAAACATTCAGTTAAGATTTTGACAAATATTTTCATCCTGCAGTCTGTCTCATACTGTCAAAAAAATGTCTGACTATAACGTAATAGAACTGAGGTTCTAAGTACCACACAAGCCCAGGAACACACAGCTGAGTGTCGCTCCCTTTCACGCAGCCACCACTGAAAAGCACAGTGCTTTTACCCCCAGACATCTTGTAAACTCCTATTTAGGGACACTCGCTCGAGAGGAACCAGCTGCACGGCCCACTTGTAGTCAAAGGCAGCGCAGGTTGGTCCTGTTGTCACTGAATTCTCAGGGCTCAGCCCCCAGAGCTTTTATAAAGGGATCTCTAAAGCCCAAACTCCCTTCCATATTATTAAGGCTTGCCCCCATTGTGGGTCCAAAGAAGACGCCCCTAGATTTGAGTAGAGTTCCAACAGAATTCAACCAAGTGGTCTCCGTGTGCTGCCGCTTCCCTGCAGGAACGATCCGGACCTCCCAGCAAGAGCGCACTGGAGAAACCTACCTGCGGCGTGGGAGTGGAGTCGGCCTGCTCACAGATCCGGCACCTCGCTGTGCAGTCACACCGCCTACCACCACCTGGTGTGGGGGTTGAACACACACACTCTGGGCTAGTGGACGATCAGGTTCTAGAAAAAATGCCAACTTGGAAGCTTGTGGCACCAATTCAAGCTGGGATGGAACAGCAGGAGATATGAAATACCTCAGGCTCAGTATGGCAGAGAGGGAGCCAAGCCCGTCCCGGCCCCAACACTACCGATTAAATACAGTTCTTTATCAAGTGCTCTGGGTCTGCCGACCTGAAGAACTAACCCCTGCCCCCAAAACACATCCCAATCTGCAAAAGGAATAACAAAAACTCAAATATCATTTGGTTCCTAAAAAAGGGAATGTTTTCAAGAAAAATAAAATAGAGGGGCCTTTTCAATTATAAAAGGCAGAGCTTCCTTTGCTGGTTTTCTCCTTCCCAGTCACCTCCTGGGTGCAGTTCAGAGCAAGTTCACCCCGTGCTTCAGCAGCTTCTGCTTTGCTTTGCCGGAGAGGCTGAAGGCGCCATCCTGAGGTTTGGGAAGCCGGAGCTCCGTGCTGCAGGTGCCAGCTGCTGGAAATATGTCTCCTGGATGGGGTTGCAACAGGCGTACACAGCCGTGGAGGCATTTCTGTTGGAGGAAGAAAGAAGGCAACGGTCCAATGCTGCTGGTGCTAATCTCAGACCACACAGAGACCTCAGTAAGGTTCTTGTCACAGAGGACCCAGGACACCCAATGTGGCATGTGCAGCTGTCATGGCACGGAATTCTATTTCTTCAGCTGAGTTTCAGGCTTCAGTGCCAATACCATCTTTCCTTCCTTTCAGCTCACTAGATGCTGGAAGAGTCCGTGGCGGGACCATCCACAGTGGCAGCAGCCACAGATCCTGGAGTTATAAGTATTGCATAAAGGAACTGTGGAGTGCTGGCTTTTTTGACATACTGGCAGCTATGCAATGTGCTCTGCATACAGTCTCTGCTTTGCCCCTCACATAAGCTCTGCAGTGGTGGTATGGTCCCATTTCACAGACAAGGACCCTGAGGCTCAGAGTGAGTAGCTGGGGCTGCCCTGCCTCTATGACGAGGCAATGGCAGTGTCCGAGAAAGGAGTCTAGTCTGCTCTCCACACTGGGGGTGGCTGGATAGACTGAGAGGGAGTGAAGGACAGGAGTGGGATGTGACACGAAGTGACAGGAAGCCTGTGGACACAGAGAGGGAGGGATGAGGGCACTACACAGAGGCGGAGCCACCTGGGAGGAGCCAACTCCAGGCCAAGGTAAACAAACCCCCCTGGTTTCTGGATCCTGCCTCTCCAACTATTATGGGCCTCAGTTTCCCCCAAATCTAGTGAGAAAGGGTGGAGTCAGGGACTGCTAAGGCTCCCCTCACTCAATTCTCTCCTTCCCTGTAAGGGAGAAAAATCCCACCCTATTCCAAGCTTCAGTGTCTCCTGCACCCACTGGCCCAGCAAGACAATCTCTTCTCACAGCCCTGTGGGAGGGCTCCGAGGCCAGATGGTTATGAGCATGGATCTGGAGTCACACACACTCAGGTGCTAATCCCAGCCCTATTACTTCCTAGTGTGTGTCCTGGGCTGCTATTCAACATTTCTGAGTCCCAGCTTTTTCATCTGTACAGTGTTTGTTGCAACAGTATGTGTCCTCATTGGTGTTTTTGTTTTGTTTTGTTTTAAAGAATGAGATTAAGTGAGTGCTTAACACATTGTGAGTGGTTAAGAAATGGTAGCTGTTCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTACACAAAAATTAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGCCAAGGACTTCACATCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAACGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGCAATGCAAATCAAAACCACAATGAGATACCATCTCACATCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCAACCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATAGCGGCACTATTCACAATAGCAAAGATTTGGAACCAACCTAAATGTCCAACAACGATAGAN
|
pathogenic
| 324,124 |
Is the variant located on chromosome 22 at position 26458522, gene HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Hermansky-Pudlak_syndrome_4']
|
CATGGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAAACCAGGAGACAGAGGTTGCAATGAGCCGAGACTGAGCCCCTGCACTCCAGCCTGGCGAGAGTGAGACTCCATCTCAAAATAAATAAATAAAAAATAATGCCCTTGACCAGATGGTTCCAAGGACTACGTGGACTAATATACACATTGCCAGCACTGCCCTTGACCTGCTAACTTGCTTTATTTTCTGTTACCAGTTGTCAACCAAATTCTCAGGTCCCAGTCTCCTCGGGCTTTTATAAAGTGATCTTTAAAGCCCAAACTCCCTTTCTGGTTTCATAAGAGAAGCATATAGAAAGAAAAAAACAAATTCGGTTGGTTAAATACTGTAAATTACAATAATCATAATATTTCTTCTGGCATGGAGGTGTTCAAGCTATGACATAATGTGAAAAAAGACAACTGTAAAATTGTACATTAGTAGAATCCTATTTTCTAGAAGACTTAAAATAATTAAAAATACAATTTATATGTGCAAAAAATAAAAACCAAAAACCAATAAAACCTGGAGCAATATATACCAAACTGTAAAATGTGGTTATTTCCTGGTGTGTGATGGAGATGAGAGAGGAAAATGTTTTACTTGATACATTTCCAAGCATTCTGCATGACTGTATGATCAGCACGTATTACTTTTTTTTTTTTTTTTTTTTTTCTGAGACGCAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTATAACCTCTGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCACCACCCTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACCCTGACCTCAAGTGATCCCCCTGCCTCGCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCCATATTACTTTGTAATTAGAAAGACAACAATATTTCAACACTGTTTCTAGCAAGGAGACGGAGCCACCGTCCCTAGTAATGGATGTAGCTCCATGATGGTGAGGACCTCAGGTTCCTTCACTGCTGGACCCCAAGCGTCTAAAGTAGGAAGGGAACCAGAAAGTCCATGGCACGTGACTGCACAACAGTGGATGATGGCGGCAATAGGAACCGACAAAGGAAGGCCTTAAGGAGAGTAACTAGAATGTTTTTCATCTACTTAGGAATAAGGCGCTGCCTGGGCCCCACAGGTGGTTCCCATGAGCAGGACCGTGGAGAGTAGGTTGGGGAGCGACTCAGGGAGGCTCACCTGACAGTCATTTCATAAAGCGCGGGCAGCTGGGCAAATTCGCTATGCATCAGGCTGACGGCCTGGAGGAAGCGGCGATCCTGCGGGGTGGCCACCTGCGGCAGGTTTGCTTCCAGAAGAGGACACAGAGTTGTGAAGAGCAGACAGTTACCTTCTGCCCTCCCACCCCATGAAGCCCAGTACTGAACACGGGGACTGAGCACGGCTCAAGGCCATGAGTTGGCTGCCCGGGGCAGAGACAAAGGCCCGGGGCATTGGGCTTCGGCTGCCGCCGCTGTGCGATGCAGCACCCGGTTTCTGCGTGTGGATCTCAACATTCTGAGACAAACCCTATCACAGATATGTGAACATGAACTTCTCTCAAAACACTGGGAAACGCCAAAAACAGACACATGAGCAGAGAAGCGTCTGCCCAGTGAACGCCACACTCAGTGGGACTGGGCTCCCGGTGAGAAGAGAGCCCTGAACGCAGGTCAGACAACTCTGTGCACAGCCGTGTCATCATGATGCTGGGGCTCAAGTTCTCATCTCCACCCATCTAGAATCTGGCATCCCCGTCGCCCCAGGCCCCTTGGCTGGTTCTTACCCATCAGCAAGCTCTGAATGCGGTCGTAATGTGTGAAGTTGTAGGTGCTGCTCGTGGAGGCTGCCTCATCCCTGGGCAGCGTCTCTTTCAGGTGGACTTCCAGCCCATTCAGTGAAGCCAGGCTGCTGTGGTACTGCAAAGGGGGAGAGGGTCATGGGCTTGTAGGGCTGACCTCAGCAAGCCTTCTGAGGGCTAGTTAACCACAGACTTAGTTAAAAAAAAAATCCTCCAGCCAGGCACGGTGGCTCACACCTGTAATCCCAGTGCTTTGTGAGACCGAGGCAGGAGGATCACTTAAGCCAGGAGTTTAAGGCTGCAGTGAGCCGAGACCGCACCACCACACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTCGAAAAAAAAAAAAAAAAATCATTCATGGAGTATCTTACTGCCTACTTGATCCAGCAAAATGGACTCTCACCAACATTTTTCTTTCACCCTTATGTTCTAATGTTTTTAAAAATAATGATTATATTGTAGGAGATTTAGAAAAGAGATGAGCAAAAAAATAACAAGAAAACAACCCATCATTTCACCATCCAGTAATAGCCACTGTCACCACTGTGGTGTATCTTATTTTAACCATGGCTTTCCTACCCAGGCTGCATGATTTCACAATACAAACAGCCTGGGACCATCCCGCATTGTTTCTCACTGGCCCTGGGTACAGAAGTCCCTCACTGGATGTAACACGGTAACTTCTCTCTGCTACACCTAGCACGGTCCTGGCTTTCTTGGAAGGACTGAGTGTCAGTCAAACAGCTTTCTGCACTTGATGGTTCAGAAGAGGAATACAGTTGAGGACGACTGTCAAGGAGATGGGTTCAAGTACCTGTATTTTTACAAACCTCCAAGGAGATAAAGTTTAAGTACAATTGAAAAGACTGGACTAAACTGTTTTGTGTAACTCTTTTTCTGTAAAATAAAAATGAGATCAAATCATAAATAATGACTGATAGTTTTTTAACCTAACAACACAGCATGAACTGCTTTTCTCGTCTTTAAATATTCTATCATATAATTCTTTAATGGCTGTGCAGTGTTCCTCAAGCTCCACTGAGGGCTTGACTCAGTAGGCCAGGCCTGTCATAATAGGCTTGGTCTGAAATGGGGTTTCCTGGGCCTGCTTCAGCCACAAGAAAGAAGGTCACTGTCCCCAAACATTTGCAGTTCCCAGGTAAAAAACATCCCAAGTTCAGCCTCTTTTTAGTCAAATGACCAGGAGCAAGTTACCAAGTTTTCTGTGCCTCATTTTTCTAGTCAACTGCAAAATGGGAACAGTACGGGACTATTGAGTGACTTAAATGAAATGACACATCCAAAAGTCCTTTGTAAACTCTAAAGTGCTATCCTGAGGCAGAGTCTTTTTATAAAGTCAAGGAAATGAAAATAATCATATAAAAGAAATGGTGTCTCTTTAGAGATCACAGATAATTTGTGGACTATTTTTCAACAGCTATGTAAGAAAAATAAGTGCATATAAAAAGTACAGAGATGCAAACAGAATGCTTCTGAAGTAAATGTCATGAAGCTTACATGTTATTTTGGGAGTATATTGGTGTTAAATCAGTTTTCCTGTATGAAAGTCTCAGAAATGATATTTCAAGTCAATAGGTGTGACATACAAAGTTATTTTCTATGCGCTCAGTTTTGTATCCTCAATGCTTAGTAGAGTGTCTGACTCCTAGTAGGTGCTCAATAAATGAATCCACTAAATGAATGAATAAATGAACACATCCAATGCCAAGCACTGCCAATTTATGAGCTATTTGGTTTAAACCAAGGTTGCAGAGCTATGTAAAAAGATATGTGCTCAGGAAAGACAATCATAATATCTCATGTTCAGATCACTGAGAGAGCCTGACCAACACTGCGTTTAACACTGAGCCTCTTATTTGAACAGATGTGTGTGTGTGCATGTGCCGACACGCACACGGGCACACATAAGCATTCACCTGATGAAGTCAAACCACAGCCTCACTGAAAGTTTTTGGACCTCAAGAACGTGCTAACAGTCATCCCTTCCATGCTGAGCTGGTGTCCAGAGGAAGAAACAATAAGAACAGAGAGTGAGCCATGCCAAAAACTGTTTCCCCACAG
|
CATGGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAAACCAGGAGACAGAGGTTGCAATGAGCCGAGACTGAGCCCCTGCACTCCAGCCTGGCGAGAGTGAGACTCCATCTCAAAATAAATAAATAAAAAATAATGCCCTTGACCAGATGGTTCCAAGGACTACGTGGACTAATATACACATTGCCAGCACTGCCCTTGACCTGCTAACTTGCTTTATTTTCTGTTACCAGTTGTCAACCAAATTCTCAGGTCCCAGTCTCCTCGGGCTTTTATAAAGTGATCTTTAAAGCCCAAACTCCCTTTCTGGTTTCATAAGAGAAGCATATAGAAAGAAAAAAACAAATTCGGTTGGTTAAATACTGTAAATTACAATAATCATAATATTTCTTCTGGCATGGAGGTGTTCAAGCTATGACATAATGTGAAAAAAGACAACTGTAAAATTGTACATTAGTAGAATCCTATTTTCTAGAAGACTTAAAATAATTAAAAATACAATTTATATGTGCAAAAAATAAAAACCAAAAACCAATAAAACCTGGAGCAATATATACCAAACTGTAAAATGTGGTTATTTCCTGGTGTGTGATGGAGATGAGAGAGGAAAATGTTTTACTTGATACATTTCCAAGCATTCTGCATGACTGTATGATCAGCACGTATTACTTTTTTTTTTTTTTTTTTTTTTCTGAGACGCAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTATAACCTCTGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCACCACCCTGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACCCTGACCTCAAGTGATCCCCCTGCCTCGCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCCATATTACTTTGTAATTAGAAAGACAACAATATTTCAACACTGTTTCTAGCAAGGAGACGGAGCCACCGTCCCTAGTAATGGATGTAGCTCCATGATGGTGAGGACCTCAGGTTCCTTCACTGCTGGACCCCAAGCGTCTAAAGTAGGAAGGGAACCAGAAAGTCCATGGCACGTGACTGCACAACAGTGGATGATGGCGGCAATAGGAACCGACAAAGGAAGGCCTTAAGGAGAGTAACTAGAATGTTTTTCATCTACTTAGGAATAAGGCGCTGCCTGGGCCCCACAGGTGGTTCCCATGAGCAGGACCGTGGAGAGTAGGTTGGGGAGCGACTCAGGGAGGCTCACCTGACAGTCATTTCATAAAGCGCGGGCAGCTGGGCAAATTCGCTATGCATCAGGCTGACGGCCTGGAGGAAGCGGCGATCCTGCGGGGTGGCCACCTGCGGCAGGTTTGCTTCCAGAAGAGGACACAGAGTTGTGAAGAGCAGACAGTTACCTTCTGCCCTCCCACCCCATGAAGCCCAGTACTGAACACGGGGACTGAGCACGGCTCAAGGCCATGAGTTGGCTGCCCGGGGCAGAGACAAAGGCCCGGGGCATTGGGCTTCGGCTGCCGCCGCTGTGCGATGCAGCACCCGGTTTCTGCGTGTGGATCTCAACATTCTGAGACAAACCCTATCACAGATATGTGAACATGAACTTCTCTCAAAACACTGGGAAACGCCAAAAACAGACACATGAGCAGAGAAGCGTCTGCCCAGTGAACGCCACACTCAGTGGGACTGGGCTCCCGGTGAGAAGAGAGCCCTGAACGCAGGTCAGACAACTCTGTGCACAGCCGTGTCATCATGATGCTGGGGCTCAAGTTCTCATCTCCACCCATCTAGAATCTGGCATCCCCGTCGCCCCAGGCCCCTTGGCTGGTTCTTACCCATCAGCAAGCTCTGAATGCGGTCGTAATGTGTGAAGTTGTAGGTGCTGCTCGTGGAGGCTGCCTCATCCCTGGGCAGTCTCTTTCAGGTGGACTTCCAGCCCATTCAGTGAAGCCAGGCTGCTGTGGTACTGCAAAGGGGGAGAGGGTCATGGGCTTGTAGGGCTGACCTCAGCAAGCCTTCTGAGGGCTAGTTAACCACAGACTTAGTTAAAAAAAAAATCCTCCAGCCAGGCACGGTGGCTCACACCTGTAATCCCAGTGCTTTGTGAGACCGAGGCAGGAGGATCACTTAAGCCAGGAGTTTAAGGCTGCAGTGAGCCGAGACCGCACCACCACACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTCGAAAAAAAAAAAAAAAAATCATTCATGGAGTATCTTACTGCCTACTTGATCCAGCAAAATGGACTCTCACCAACATTTTTCTTTCACCCTTATGTTCTAATGTTTTTAAAAATAATGATTATATTGTAGGAGATTTAGAAAAGAGATGAGCAAAAAAATAACAAGAAAACAACCCATCATTTCACCATCCAGTAATAGCCACTGTCACCACTGTGGTGTATCTTATTTTAACCATGGCTTTCCTACCCAGGCTGCATGATTTCACAATACAAACAGCCTGGGACCATCCCGCATTGTTTCTCACTGGCCCTGGGTACAGAAGTCCCTCACTGGATGTAACACGGTAACTTCTCTCTGCTACACCTAGCACGGTCCTGGCTTTCTTGGAAGGACTGAGTGTCAGTCAAACAGCTTTCTGCACTTGATGGTTCAGAAGAGGAATACAGTTGAGGACGACTGTCAAGGAGATGGGTTCAAGTACCTGTATTTTTACAAACCTCCAAGGAGATAAAGTTTAAGTACAATTGAAAAGACTGGACTAAACTGTTTTGTGTAACTCTTTTTCTGTAAAATAAAAATGAGATCAAATCATAAATAATGACTGATAGTTTTTTAACCTAACAACACAGCATGAACTGCTTTTCTCGTCTTTAAATATTCTATCATATAATTCTTTAATGGCTGTGCAGTGTTCCTCAAGCTCCACTGAGGGCTTGACTCAGTAGGCCAGGCCTGTCATAATAGGCTTGGTCTGAAATGGGGTTTCCTGGGCCTGCTTCAGCCACAAGAAAGAAGGTCACTGTCCCCAAACATTTGCAGTTCCCAGGTAAAAAACATCCCAAGTTCAGCCTCTTTTTAGTCAAATGACCAGGAGCAAGTTACCAAGTTTTCTGTGCCTCATTTTTCTAGTCAACTGCAAAATGGGAACAGTACGGGACTATTGAGTGACTTAAATGAAATGACACATCCAAAAGTCCTTTGTAAACTCTAAAGTGCTATCCTGAGGCAGAGTCTTTTTATAAAGTCAAGGAAATGAAAATAATCATATAAAAGAAATGGTGTCTCTTTAGAGATCACAGATAATTTGTGGACTATTTTTCAACAGCTATGTAAGAAAAATAAGTGCATATAAAAAGTACAGAGATGCAAACAGAATGCTTCTGAAGTAAATGTCATGAAGCTTACATGTTATTTTGGGAGTATATTGGTGTTAAATCAGTTTTCCTGTATGAAAGTCTCAGAAATGATATTTCAAGTCAATAGGTGTGACATACAAAGTTATTTTCTATGCGCTCAGTTTTGTATCCTCAATGCTTAGTAGAGTGTCTGACTCCTAGTAGGTGCTCAATAAATGAATCCACTAAATGAATGAATAAATGAACACATCCAATGCCAAGCACTGCCAATTTATGAGCTATTTGGTTTAAACCAAGGTTGCAGAGCTATGTAAAAAGATATGTGCTCAGGAAAGACAATCATAATATCTCATGTTCAGATCACTGAGAGAGCCTGACCAACACTGCGTTTAACACTGAGCCTCTTATTTGAACAGATGTGTGTGTGTGCATGTGCCGACACGCACACGGGCACACATAAGCATTCACCTGATGAAGTCAAACCACAGCCTCACTGAAAGTTTTTGGACCTCAAGAACGTGCTAACAGTCATCCCTTCCATGCTGAGCTGGTGTCCAGAGGAAGAAACAATAAGAACAGAGAGTGAGCCATGCCAAAAACTGTTTCCCCACAGNN
|
pathogenic
| 324,134 |
Is the genetic mutation found on chromosome 22 at position 26464528, within the gene HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Hermansky-Pudlak_syndrome_4']
|
TGGGAGTTACAATGCCTCCTTCCCAGAACTGTTCTAAGGCTTGGCTAAAACGAGAGATGCGAAGTATTTCACATATAGTTGGTGCAGAATACATCTCAAAGAGCAGCCTGGGCTATTTTTTCCTTTTTGTGGGGGAAGGTAAAAAGAGAGGTATTATATCCACTTTATTGCATTCAAACACTGGGCCCTTCAAAATGACACTTCCAAGGCTCGACACTGTGCAGAACAGACCATGAAAACCAAGGCATTGGCAGGGAGATGAGGCATTTAACACTGCAGCCACAACTCCCCGCACTGCTATAAGAAGGAGATGGATAGTCACTCCTAGCTATGGTGAATGGGGATACAGGAAGCAAATGAGCCATAACTCAGTGATCCAGCGTCTGTGGAAAGGGCACAGAGAAGCCTGACAGCTCCAGAGAGCATTCTCTTGCTAGGAGCTCTGTGCAAGGAAGCTGCTGTGCAGTCTTATCTCTTCTTCTGTATTTCAAGGTGACTAGCTCATTTATGGAGGGTCACAAGCCCTGCATGATAGTAAGATCAGCTTAGAATAATACACATTTAAGAATAAAAACAAGGAAAGCCCCAAGACACCATTTGCCCTGCAGCAATTTCAACCTGCTGTTCTTACTGCTACCACTTTCCCTGCCTACTAAAGCAAGGCTGTTACTATAGCAACGAATCTCCAGCGTGGGCCCCAGGGAAGGTCAGTTTACCACTCTAAGCCTCTAAGCGGGGAAGGGGCTGCAATAGTTTAAGAGCCCTCCAGAGCCAGGCAGGATTTCAGACATCCCAGCCTTCTAGGAAGGAGCTTCAGATCAGGTACGATGCTGGGGCTATGGAGGGAAACACTGGGTTTCTAGGGAACTCCCAACCCAGGCTGTGACACACTGCGGAGGAGTTTCCAGCTGACACAGAACCTAGAGCTGTCCAGGCTAGGAAATGAGGCCATGAGCAGGGGCGGCACAACACATGCACGTACGTGTGCAGTCTCTGCCTGCATTATCTCACTGCATCTGGAACAGGAAGGTCTACCACCATCCCTACGTGACTGAGGAGTTAGCCAAGGCTCAAGGGGACAAAGGTCTGTGGGCAAGTTCACACAGCTAGAGGACAAGGGCCAGGATTCCATCTCAGGCCTTCCCTTTCTCCAAGGCCTGCGCTCTGCAAAACTAGAAACAGCGGAAGAAGAGAACCAACACTTGTTGGATGCCAATGCACCACCAGTGCTATGCGCTTGACTCACTCTTACCCCCCACAAAAACCCACAGAGGCAGGTAATACCTCCATCGTCTAAACAAGAACGTCTTGCCCAGGGTCACACAACTGAGGGCTGAGCCTTTATCTCTTCCCTGGGTGTTGGCACAGTGCTGTGAGGGAAGCACAGGAGATCGGCAGAGGCCGCAGAGGGGCAGGAGAAGGTCTGAGGACACTCACCACTTCCTCTATGGCTGCGCTGTCTCCCAGCAGCGGCTCCTCAGCCAGCAGGGACAGCACCAGCCCTTTGACGCAGTGAGTGTAGAGATTCATCCTCACGAGCCCCATGCAGGACTCTGCTGGTGTCAGCCTGGAGCTGATTCCATCTGCAGAGGGGCCAGCACCCTGACAGTTTGCTGAGCCTGAACTGCATTCCAGACCAGGGGCTGCGTGGCTTTCACAGACCCCATCAACATCCTCATCCAGGCCTTGTTCCCCCGTGGGAAGCTTGTTTCCTCTCTGTCCTGGATCTAAGCGAGGCAATAACAAGGGCCTGCGGGTCCTTCTGGGGAGAGGGTCTGCTCTGGGAATGGGGGCTTGGCTGCTATGGCCAGGATGGTCTTCGAGCTGCTCTTGGGCTCCATGCTGGGTCAGCATCTCAGGAGCAGAGGGAGGGCGCAAGCTGCTGATGGCTGTGTCCTCAGGAGGCGTGGGTTCCAGGCTGCTGGAGGCGCTGAGAGATGCCTTGCAGTAAGGAGCCCTGCCATCTGGAACAGGCACATGTAGGAAGGCAAAATGACCTGAGGCCATTTCCACTTCCTGAGCCTCTGGAATGTGGATTTCAGACAAGTCGAGTTCTTCTTGGAGAAAGACTAGTTCCTTCCCCAGGGAGGAGCTGAGGCCAAGAACCTCACCCCTGGCAGAGTTGTGCAGTCCTGCGGGCCTGATGCTCTCCAGATCATGGCCAGACAAGCATCCGTTCTCCTTCCTGCCATCTGGACAAGCTTCGTCAGGGGATGTGGGATCTGGGGTGGTCCAGGCCATGGATTCCACATGGCCAGTGGCGTTTTCTTTCAGGGCAGATGTGCTCCCACCCTTTGGATGGTGCTGGGCTGAACCATCCTGGAGTCCTGCTGGAGATGCTAGAGACCTGGCAAACAAGAGAGATGTAAGGAAGGGGCACGTTGACAGACTGCAGGGCAAGTGCCCTTCCACAGTGAAGACTAAAGCACAGGCATCAAGGACAAGGGGGTGCCTGAGGCCACAGAGCCTAAGAGGCCACCAGAGTTAAATCACAAGAGTAAAAATACACCAACATCTGGCCCTTGGGGCTTTACGTAGTGACACCAGACTCACCTACTGAAAATGGCAGAGCCCACTGAATAAGACTGACCCACATCTGGAAGGTCTCCTACGCATCAGGCCCTATACTAGGTGCTGTACCTATACTATTTTCAAGTGTCACAATGAACTCATGAAAGGGATACTATTTTGTCTACTTTTCAGATGAAAAAACTGAGGCTCAGGCAGGGAATGGACTTGCCCAAGGTCCCATAGCTGGTATAAGTAAGAGAGCTGGGATATGAAAGCCAATGTCATCTCTCTATGCCACTCTGTTTCTTAACAAACTCAAGATTCAGATGCTCCTTTACAAGACAGGGCATGGGGAAGATGGAATTAAGGAACGATGGGATGTATCAGAGGTTTGTTTTTTAACCAATCACGCGATGGGGTCCCTCAGGTGTGGTGCAAGGTTAACTCTCTGTGCACTCCATTACCTTGTCATCTGTTCCACCGGGAACTCGTGGAGACTAATGGCTTCCTCTTTGGTCACAAAAACAGGGATAATCTGGACATTCGGGGGCAATGCCGCTCCTGGAATTGCAAAGCAATATGAACAGGACTTTCCCCTGAGCCAGAGAGGGCAGCGGGGCAATAGCTGCACTGGCGTGATGCATCCAACCCACACGTGGGCTCGGAAAGGGGTGCTGTGAGTGCATTCCTCAGCCAGGACACAGGTTGCCAAACTGCACCTCGAACTCCTGGGCCCAGTAAGGAAAGAGTCCCTGCAGGCAACATGACTCCCAGCTTTGGAGAAGGAAGATGTTCGGGAGAGAAAGGTTGAAAAGCACTTTTACAAGAAGAAGATATAAGCTAAGAAAGGGATCTGCTCCAACTCAGGCTTCAGAATAAATCGAAATAACTCTCCTGAGGACGCCTCCACATCCTGCAAAAGGTCTTTCTGGCAGTCGCTGTTTGCCTTACCCTCTCCCAATCACAATCTCCTGGCACTTGACCGAGCAGTCTCACAATATGAAGTTAAGGAGGGTCTGAAAGCAGGGATTTGACAGCATGCCTAAAATCATAGCTTTACCATTAGGGTTCTGGTGGGTAACTCGATTCTTGAAGCTCCATAACATCCATTTTCCTATTATGAGCAGAGGAAATAAACATGCAGATGGCTTGGTTTCCTTCGCATAACTTGTACAGGGGTAGGTAGCATAAAAGACCGCCGTTCTCAAGAGGCAACCATGCGCCTCACTACTTACCATGTTCCTGCGGGGCATCCTCTCCCGTAGGGAGTCTCTGAAAACAAACACACACAGAAGTTGGCGCTGGGCACCACATTCTCCTCTTGACCTAACCATCAGGAATTTGCTGTGCCATCTGTTCATAAAACTTAGCCAGGCCCAGAAAGCTTGTCCCAACCACATGCTAAGAGCCAAGCAGATGGAACAGAAGCTCCCCCAAGCTGCTGGCTCCCACTATGGCTGGGATGAAGCAAGAACCTGGGCCCACACAGGCTGCAAGGCAGCAGCTCCACCCAAACTCACATCACACTCTACGTTCTGATTTTCTCAGTCTCTCTCCCTTCTGGGAATAAAATTGAGGATTCCTG
|
TGGGAGTTACAATGCCTCCTTCCCAGAACTGTTCTAAGGCTTGGCTAAAACGAGAGATGCGAAGTATTTCACATATAGTTGGTGCAGAATACATCTCAAAGAGCAGCCTGGGCTATTTTTTCCTTTTTGTGGGGGAAGGTAAAAAGAGAGGTATTATATCCACTTTATTGCATTCAAACACTGGGCCCTTCAAAATGACACTTCCAAGGCTCGACACTGTGCAGAACAGACCATGAAAACCAAGGCATTGGCAGGGAGATGAGGCATTTAACACTGCAGCCACAACTCCCCGCACTGCTATAAGAAGGAGATGGATAGTCACTCCTAGCTATGGTGAATGGGGATACAGGAAGCAAATGAGCCATAACTCAGTGATCCAGCGTCTGTGGAAAGGGCACAGAGAAGCCTGACAGCTCCAGAGAGCATTCTCTTGCTAGGAGCTCTGTGCAAGGAAGCTGCTGTGCAGTCTTATCTCTTCTTCTGTATTTCAAGGTGACTAGCTCATTTATGGAGGGTCACAAGCCCTGCATGATAGTAAGATCAGCTTAGAATAATACACATTTAAGAATAAAAACAAGGAAAGCCCCAAGACACCATTTGCCCTGCAGCAATTTCAACCTGCTGTTCTTACTGCTACCACTTTCCCTGCCTACTAAAGCAAGGCTGTTACTATAGCAACGAATCTCCAGCGTGGGCCCCAGGGAAGGTCAGTTTACCACTCTAAGCCTCTAAGCGGGGAAGGGGCTGCAATAGTTTAAGAGCCCTCCAGAGCCAGGCAGGATTTCAGACATCCCAGCCTTCTAGGAAGGAGCTTCAGATCAGGTACGATGCTGGGGCTATGGAGGGAAACACTGGGTTTCTAGGGAACTCCCAACCCAGGCTGTGACACACTGCGGAGGAGTTTCCAGCTGACACAGAACCTAGAGCTGTCCAGGCTAGGAAATGAGGCCATGAGCAGGGGCGGCACAACACATGCACGTACGTGTGCAGTCTCTGCCTGCATTATCTCACTGCATCTGGAACAGGAAGGTCTACCACCATCCCTACGTGACTGAGGAGTTAGCCAAGGCTCAAGGGGACAAAGGTCTGTGGGCAAGTTCACACAGCTAGAGGACAAGGGCCAGGATTCCATCTCAGGCCTTCCCTTTCTCCAAGGCCTGCGCTCTGCAAAACTAGAAACAGCGGAAGAAGAGAACCAACACTTGTTGGATGCCAATGCACCACCAGTGCTATGCGCTTGACTCACTCTTACCCCCCACAAAAACCCACAGAGGCAGGTAATACCTCCATCGTCTAAACAAGAACGTCTTGCCCAGGGTCACACAACTGAGGGCTGAGCCTTTATCTCTTCCCTGGGTGTTGGCACAGTGCTGTGAGGGAAGCACAGGAGATCGGCAGAGGCCGCAGAGGGGCAGGAGAAGGTCTGAGGACACTCACCACTTCCTCTATGGCTGCGCTGTCTCCCAGCAGCGGCTCCTCAGCCAGCAGGGACAGCACCAGCCCTTTGACGCAGTGAGTGTAGAGATTCATCCTCACGAGCCCCATGCAGGACTCTGCTGGTGTCAGCCTGGAGCTGATTCCATCTGCAGAGGGGCCAGCACCCTGACAGTTTGCTGAGCCTGAACTGCATTCCAGACCAGGGGCTGCGTGGCTTTCACAGACCCCATCAACATCCTCATCCAGGCCTTGTTCCCCCGTGGGAAGCTTGTTTCCTCTCTGTCCTGGATCTAAGCGAGGCAATAACAAGGGCCTGCGGGTCCTTCTGGGGAGAGGGTCTGCTCTGGGAATGGGGGCTTGGCTGCTATGGCCAGGATGGTCTTCGAGCTGCTCTTGGGCTCCATGCTGGGTCAGCATCTCAGGAGCAGAGGGAGGGCGCAAGCTGCTGATGGCTGTGTCCTCAGGAGGCGTGGGTTCCAGGCTGCTGGAGGCGCTGAGAGATGCCTTGCAGTAAGGAGCCCTGCCATCTGGAACAGGCACATGTAGGAAGGCAAAATGACCTGAGGCCATTTCCACTTCCTGAGCCTCTGGAATGTGGATTTCAGACAAGTCGAAAGACTAGTTCCTTCCCCAGGGAGGAGCTGAGGCCAAGAACCTCACCCCTGGCAGAGTTGTGCAGTCCTGCGGGCCTGATGCTCTCCAGATCATGGCCAGACAAGCATCCGTTCTCCTTCCTGCCATCTGGACAAGCTTCGTCAGGGGATGTGGGATCTGGGGTGGTCCAGGCCATGGATTCCACATGGCCAGTGGCGTTTTCTTTCAGGGCAGATGTGCTCCCACCCTTTGGATGGTGCTGGGCTGAACCATCCTGGAGTCCTGCTGGAGATGCTAGAGACCTGGCAAACAAGAGAGATGTAAGGAAGGGGCACGTTGACAGACTGCAGGGCAAGTGCCCTTCCACAGTGAAGACTAAAGCACAGGCATCAAGGACAAGGGGGTGCCTGAGGCCACAGAGCCTAAGAGGCCACCAGAGTTAAATCACAAGAGTAAAAATACACCAACATCTGGCCCTTGGGGCTTTACGTAGTGACACCAGACTCACCTACTGAAAATGGCAGAGCCCACTGAATAAGACTGACCCACATCTGGAAGGTCTCCTACGCATCAGGCCCTATACTAGGTGCTGTACCTATACTATTTTCAAGTGTCACAATGAACTCATGAAAGGGATACTATTTTGTCTACTTTTCAGATGAAAAAACTGAGGCTCAGGCAGGGAATGGACTTGCCCAAGGTCCCATAGCTGGTATAAGTAAGAGAGCTGGGATATGAAAGCCAATGTCATCTCTCTATGCCACTCTGTTTCTTAACAAACTCAAGATTCAGATGCTCCTTTACAAGACAGGGCATGGGGAAGATGGAATTAAGGAACGATGGGATGTATCAGAGGTTTGTTTTTTAACCAATCACGCGATGGGGTCCCTCAGGTGTGGTGCAAGGTTAACTCTCTGTGCACTCCATTACCTTGTCATCTGTTCCACCGGGAACTCGTGGAGACTAATGGCTTCCTCTTTGGTCACAAAAACAGGGATAATCTGGACATTCGGGGGCAATGCCGCTCCTGGAATTGCAAAGCAATATGAACAGGACTTTCCCCTGAGCCAGAGAGGGCAGCGGGGCAATAGCTGCACTGGCGTGATGCATCCAACCCACACGTGGGCTCGGAAAGGGGTGCTGTGAGTGCATTCCTCAGCCAGGACACAGGTTGCCAAACTGCACCTCGAACTCCTGGGCCCAGTAAGGAAAGAGTCCCTGCAGGCAACATGACTCCCAGCTTTGGAGAAGGAAGATGTTCGGGAGAGAAAGGTTGAAAAGCACTTTTACAAGAAGAAGATATAAGCTAAGAAAGGGATCTGCTCCAACTCAGGCTTCAGAATAAATCGAAATAACTCTCCTGAGGACGCCTCCACATCCTGCAAAAGGTCTTTCTGGCAGTCGCTGTTTGCCTTACCCTCTCCCAATCACAATCTCCTGGCACTTGACCGAGCAGTCTCACAATATGAAGTTAAGGAGGGTCTGAAAGCAGGGATTTGACAGCATGCCTAAAATCATAGCTTTACCATTAGGGTTCTGGTGGGTAACTCGATTCTTGAAGCTCCATAACATCCATTTTCCTATTATGAGCAGAGGAAATAAACATGCAGATGGCTTGGTTTCCTTCGCATAACTTGTACAGGGGTAGGTAGCATAAAAGACCGCCGTTCTCAAGAGGCAACCATGCGCCTCACTACTTACCATGTTCCTGCGGGGCATCCTCTCCCGTAGGGAGTCTCTGAAAACAAACACACACAGAAGTTGGCGCTGGGCACCACATTCTCCTCTTGACCTAACCATCAGGAATTTGCTGTGCCATCTGTTCATAAAACTTAGCCAGGCCCAGAAAGCTTGTCCCAACCACATGCTAAGAGCCAAGCAGATGGAACAGAAGCTCCCCCAAGCTGCTGGCTCCCACTATGGCTGGGATGAAGCAAGAACCTGGGCCCACACAGGCTGCAAGGCAGCAGCTCCACCCAAACTCACATCACACTCTACGTTCTGATTTTCTCAGTCTCTCTCCCTTCTGGGAATAAAATTGAGGATTCCTGNNNNNNNNNNNNNN
|
pathogenic
| 324,144 |
The mutation in gene HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2) at chromosome 22, position 26464569—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
TGGCTAAAACGAGAGATGCGAAGTATTTCACATATAGTTGGTGCAGAATACATCTCAAAGAGCAGCCTGGGCTATTTTTTCCTTTTTGTGGGGGAAGGTAAAAAGAGAGGTATTATATCCACTTTATTGCATTCAAACACTGGGCCCTTCAAAATGACACTTCCAAGGCTCGACACTGTGCAGAACAGACCATGAAAACCAAGGCATTGGCAGGGAGATGAGGCATTTAACACTGCAGCCACAACTCCCCGCACTGCTATAAGAAGGAGATGGATAGTCACTCCTAGCTATGGTGAATGGGGATACAGGAAGCAAATGAGCCATAACTCAGTGATCCAGCGTCTGTGGAAAGGGCACAGAGAAGCCTGACAGCTCCAGAGAGCATTCTCTTGCTAGGAGCTCTGTGCAAGGAAGCTGCTGTGCAGTCTTATCTCTTCTTCTGTATTTCAAGGTGACTAGCTCATTTATGGAGGGTCACAAGCCCTGCATGATAGTAAGATCAGCTTAGAATAATACACATTTAAGAATAAAAACAAGGAAAGCCCCAAGACACCATTTGCCCTGCAGCAATTTCAACCTGCTGTTCTTACTGCTACCACTTTCCCTGCCTACTAAAGCAAGGCTGTTACTATAGCAACGAATCTCCAGCGTGGGCCCCAGGGAAGGTCAGTTTACCACTCTAAGCCTCTAAGCGGGGAAGGGGCTGCAATAGTTTAAGAGCCCTCCAGAGCCAGGCAGGATTTCAGACATCCCAGCCTTCTAGGAAGGAGCTTCAGATCAGGTACGATGCTGGGGCTATGGAGGGAAACACTGGGTTTCTAGGGAACTCCCAACCCAGGCTGTGACACACTGCGGAGGAGTTTCCAGCTGACACAGAACCTAGAGCTGTCCAGGCTAGGAAATGAGGCCATGAGCAGGGGCGGCACAACACATGCACGTACGTGTGCAGTCTCTGCCTGCATTATCTCACTGCATCTGGAACAGGAAGGTCTACCACCATCCCTACGTGACTGAGGAGTTAGCCAAGGCTCAAGGGGACAAAGGTCTGTGGGCAAGTTCACACAGCTAGAGGACAAGGGCCAGGATTCCATCTCAGGCCTTCCCTTTCTCCAAGGCCTGCGCTCTGCAAAACTAGAAACAGCGGAAGAAGAGAACCAACACTTGTTGGATGCCAATGCACCACCAGTGCTATGCGCTTGACTCACTCTTACCCCCCACAAAAACCCACAGAGGCAGGTAATACCTCCATCGTCTAAACAAGAACGTCTTGCCCAGGGTCACACAACTGAGGGCTGAGCCTTTATCTCTTCCCTGGGTGTTGGCACAGTGCTGTGAGGGAAGCACAGGAGATCGGCAGAGGCCGCAGAGGGGCAGGAGAAGGTCTGAGGACACTCACCACTTCCTCTATGGCTGCGCTGTCTCCCAGCAGCGGCTCCTCAGCCAGCAGGGACAGCACCAGCCCTTTGACGCAGTGAGTGTAGAGATTCATCCTCACGAGCCCCATGCAGGACTCTGCTGGTGTCAGCCTGGAGCTGATTCCATCTGCAGAGGGGCCAGCACCCTGACAGTTTGCTGAGCCTGAACTGCATTCCAGACCAGGGGCTGCGTGGCTTTCACAGACCCCATCAACATCCTCATCCAGGCCTTGTTCCCCCGTGGGAAGCTTGTTTCCTCTCTGTCCTGGATCTAAGCGAGGCAATAACAAGGGCCTGCGGGTCCTTCTGGGGAGAGGGTCTGCTCTGGGAATGGGGGCTTGGCTGCTATGGCCAGGATGGTCTTCGAGCTGCTCTTGGGCTCCATGCTGGGTCAGCATCTCAGGAGCAGAGGGAGGGCGCAAGCTGCTGATGGCTGTGTCCTCAGGAGGCGTGGGTTCCAGGCTGCTGGAGGCGCTGAGAGATGCCTTGCAGTAAGGAGCCCTGCCATCTGGAACAGGCACATGTAGGAAGGCAAAATGACCTGAGGCCATTTCCACTTCCTGAGCCTCTGGAATGTGGATTTCAGACAAGTCGAGTTCTTCTTGGAGAAAGACTAGTTCCTTCCCCAGGGAGGAGCTGAGGCCAAGAACCTCACCCCTGGCAGAGTTGTGCAGTCCTGCGGGCCTGATGCTCTCCAGATCATGGCCAGACAAGCATCCGTTCTCCTTCCTGCCATCTGGACAAGCTTCGTCAGGGGATGTGGGATCTGGGGTGGTCCAGGCCATGGATTCCACATGGCCAGTGGCGTTTTCTTTCAGGGCAGATGTGCTCCCACCCTTTGGATGGTGCTGGGCTGAACCATCCTGGAGTCCTGCTGGAGATGCTAGAGACCTGGCAAACAAGAGAGATGTAAGGAAGGGGCACGTTGACAGACTGCAGGGCAAGTGCCCTTCCACAGTGAAGACTAAAGCACAGGCATCAAGGACAAGGGGGTGCCTGAGGCCACAGAGCCTAAGAGGCCACCAGAGTTAAATCACAAGAGTAAAAATACACCAACATCTGGCCCTTGGGGCTTTACGTAGTGACACCAGACTCACCTACTGAAAATGGCAGAGCCCACTGAATAAGACTGACCCACATCTGGAAGGTCTCCTACGCATCAGGCCCTATACTAGGTGCTGTACCTATACTATTTTCAAGTGTCACAATGAACTCATGAAAGGGATACTATTTTGTCTACTTTTCAGATGAAAAAACTGAGGCTCAGGCAGGGAATGGACTTGCCCAAGGTCCCATAGCTGGTATAAGTAAGAGAGCTGGGATATGAAAGCCAATGTCATCTCTCTATGCCACTCTGTTTCTTAACAAACTCAAGATTCAGATGCTCCTTTACAAGACAGGGCATGGGGAAGATGGAATTAAGGAACGATGGGATGTATCAGAGGTTTGTTTTTTAACCAATCACGCGATGGGGTCCCTCAGGTGTGGTGCAAGGTTAACTCTCTGTGCACTCCATTACCTTGTCATCTGTTCCACCGGGAACTCGTGGAGACTAATGGCTTCCTCTTTGGTCACAAAAACAGGGATAATCTGGACATTCGGGGGCAATGCCGCTCCTGGAATTGCAAAGCAATATGAACAGGACTTTCCCCTGAGCCAGAGAGGGCAGCGGGGCAATAGCTGCACTGGCGTGATGCATCCAACCCACACGTGGGCTCGGAAAGGGGTGCTGTGAGTGCATTCCTCAGCCAGGACACAGGTTGCCAAACTGCACCTCGAACTCCTGGGCCCAGTAAGGAAAGAGTCCCTGCAGGCAACATGACTCCCAGCTTTGGAGAAGGAAGATGTTCGGGAGAGAAAGGTTGAAAAGCACTTTTACAAGAAGAAGATATAAGCTAAGAAAGGGATCTGCTCCAACTCAGGCTTCAGAATAAATCGAAATAACTCTCCTGAGGACGCCTCCACATCCTGCAAAAGGTCTTTCTGGCAGTCGCTGTTTGCCTTACCCTCTCCCAATCACAATCTCCTGGCACTTGACCGAGCAGTCTCACAATATGAAGTTAAGGAGGGTCTGAAAGCAGGGATTTGACAGCATGCCTAAAATCATAGCTTTACCATTAGGGTTCTGGTGGGTAACTCGATTCTTGAAGCTCCATAACATCCATTTTCCTATTATGAGCAGAGGAAATAAACATGCAGATGGCTTGGTTTCCTTCGCATAACTTGTACAGGGGTAGGTAGCATAAAAGACCGCCGTTCTCAAGAGGCAACCATGCGCCTCACTACTTACCATGTTCCTGCGGGGCATCCTCTCCCGTAGGGAGTCTCTGAAAACAAACACACACAGAAGTTGGCGCTGGGCACCACATTCTCCTCTTGACCTAACCATCAGGAATTTGCTGTGCCATCTGTTCATAAAACTTAGCCAGGCCCAGAAAGCTTGTCCCAACCACATGCTAAGAGCCAAGCAGATGGAACAGAAGCTCCCCCAAGCTGCTGGCTCCCACTATGGCTGGGATGAAGCAAGAACCTGGGCCCACACAGGCTGCAAGGCAGCAGCTCCACCCAAACTCACATCACACTCTACGTTCTGATTTTCTCAGTCTCTCTCCCTTCTGGGAATAAAATTGAGGATTCCTGTTCTCTTTTACACCTTTGGGGAACTCATATTCTAGAATACA
|
TGGCTAAAACGAGAGATGCGAAGTATTTCACATATAGTTGGTGCAGAATACATCTCAAAGAGCAGCCTGGGCTATTTTTTCCTTTTTGTGGGGGAAGGTAAAAAGAGAGGTATTATATCCACTTTATTGCATTCAAACACTGGGCCCTTCAAAATGACACTTCCAAGGCTCGACACTGTGCAGAACAGACCATGAAAACCAAGGCATTGGCAGGGAGATGAGGCATTTAACACTGCAGCCACAACTCCCCGCACTGCTATAAGAAGGAGATGGATAGTCACTCCTAGCTATGGTGAATGGGGATACAGGAAGCAAATGAGCCATAACTCAGTGATCCAGCGTCTGTGGAAAGGGCACAGAGAAGCCTGACAGCTCCAGAGAGCATTCTCTTGCTAGGAGCTCTGTGCAAGGAAGCTGCTGTGCAGTCTTATCTCTTCTTCTGTATTTCAAGGTGACTAGCTCATTTATGGAGGGTCACAAGCCCTGCATGATAGTAAGATCAGCTTAGAATAATACACATTTAAGAATAAAAACAAGGAAAGCCCCAAGACACCATTTGCCCTGCAGCAATTTCAACCTGCTGTTCTTACTGCTACCACTTTCCCTGCCTACTAAAGCAAGGCTGTTACTATAGCAACGAATCTCCAGCGTGGGCCCCAGGGAAGGTCAGTTTACCACTCTAAGCCTCTAAGCGGGGAAGGGGCTGCAATAGTTTAAGAGCCCTCCAGAGCCAGGCAGGATTTCAGACATCCCAGCCTTCTAGGAAGGAGCTTCAGATCAGGTACGATGCTGGGGCTATGGAGGGAAACACTGGGTTTCTAGGGAACTCCCAACCCAGGCTGTGACACACTGCGGAGGAGTTTCCAGCTGACACAGAACCTAGAGCTGTCCAGGCTAGGAAATGAGGCCATGAGCAGGGGCGGCACAACACATGCACGTACGTGTGCAGTCTCTGCCTGCATTATCTCACTGCATCTGGAACAGGAAGGTCTACCACCATCCCTACGTGACTGAGGAGTTAGCCAAGGCTCAAGGGGACAAAGGTCTGTGGGCAAGTTCACACAGCTAGAGGACAAGGGCCAGGATTCCATCTCAGGCCTTCCCTTTCTCCAAGGCCTGCGCTCTGCAAAACTAGAAACAGCGGAAGAAGAGAACCAACACTTGTTGGATGCCAATGCACCACCAGTGCTATGCGCTTGACTCACTCTTACCCCCCACAAAAACCCACAGAGGCAGGTAATACCTCCATCGTCTAAACAAGAACGTCTTGCCCAGGGTCACACAACTGAGGGCTGAGCCTTTATCTCTTCCCTGGGTGTTGGCACAGTGCTGTGAGGGAAGCACAGGAGATCGGCAGAGGCCGCAGAGGGGCAGGAGAAGGTCTGAGGACACTCACCACTTCCTCTATGGCTGCGCTGTCTCCCAGCAGCGGCTCCTCAGCCAGCAGGGACAGCACCAGCCCTTTGACGCAGTGAGTGTAGAGATTCATCCTCACGAGCCCCATGCAGGACTCTGCTGGTGTCAGCCTGGAGCTGATTCCATCTGCAGAGGGGCCAGCACCCTGACAGTTTGCTGAGCCTGAACTGCATTCCAGACCAGGGGCTGCGTGGCTTTCACAGACCCCATCAACATCCTCATCCAGGCCTTGTTCCCCCGTGGGAAGCTTGTTTCCTCTCTGTCCTGGATCTAAGCGAGGCAATAACAAGGGCCTGCGGGTCCTTCTGGGGAGAGGGTCTGCTCTGGGAATGGGGGCTTGGCTGCTATGGCCAGGATGGTCTTCGAGCTGCTCTTGGGCTCCATGCTGGGTCAGCATCTCAGGAGCAGAGGGAGGGCGCAAGCTGCTGATGGCTGTGTCCTCAGGAGGCGTGGGTTCCAGGCTGCTGGAGGCGCTGAGAGATGCCTTGCAGTAAGGAGCCCTGCCATCTGGAACAGGCACATGTAGGAAGGCAAAATGACCTGAGGCCATTTCCACTTCCTGAGCCTCTGGAATGTGGATTTCAGACAAGTCGAGTTCTTCTTGGAGAAAGACTAGTTCCTTCCCCAGGGAGCTGCTGAGGCCAAGAACCTCACCCCTGGCAGAGTTGTGCAGTCCTGCGGGCCTGATGCTCTCCAGATCATGGCCAGACAAGCATCCGTTCTCCTTCCTGCCATCTGGACAAGCTTCGTCAGGGGATGTGGGATCTGGGGTGGTCCAGGCCATGGATTCCACATGGCCAGTGGCGTTTTCTTTCAGGGCAGATGTGCTCCCACCCTTTGGATGGTGCTGGGCTGAACCATCCTGGAGTCCTGCTGGAGATGCTAGAGACCTGGCAAACAAGAGAGATGTAAGGAAGGGGCACGTTGACAGACTGCAGGGCAAGTGCCCTTCCACAGTGAAGACTAAAGCACAGGCATCAAGGACAAGGGGGTGCCTGAGGCCACAGAGCCTAAGAGGCCACCAGAGTTAAATCACAAGAGTAAAAATACACCAACATCTGGCCCTTGGGGCTTTACGTAGTGACACCAGACTCACCTACTGAAAATGGCAGAGCCCACTGAATAAGACTGACCCACATCTGGAAGGTCTCCTACGCATCAGGCCCTATACTAGGTGCTGTACCTATACTATTTTCAAGTGTCACAATGAACTCATGAAAGGGATACTATTTTGTCTACTTTTCAGATGAAAAAACTGAGGCTCAGGCAGGGAATGGACTTGCCCAAGGTCCCATAGCTGGTATAAGTAAGAGAGCTGGGATATGAAAGCCAATGTCATCTCTCTATGCCACTCTGTTTCTTAACAAACTCAAGATTCAGATGCTCCTTTACAAGACAGGGCATGGGGAAGATGGAATTAAGGAACGATGGGATGTATCAGAGGTTTGTTTTTTAACCAATCACGCGATGGGGTCCCTCAGGTGTGGTGCAAGGTTAACTCTCTGTGCACTCCATTACCTTGTCATCTGTTCCACCGGGAACTCGTGGAGACTAATGGCTTCCTCTTTGGTCACAAAAACAGGGATAATCTGGACATTCGGGGGCAATGCCGCTCCTGGAATTGCAAAGCAATATGAACAGGACTTTCCCCTGAGCCAGAGAGGGCAGCGGGGCAATAGCTGCACTGGCGTGATGCATCCAACCCACACGTGGGCTCGGAAAGGGGTGCTGTGAGTGCATTCCTCAGCCAGGACACAGGTTGCCAAACTGCACCTCGAACTCCTGGGCCCAGTAAGGAAAGAGTCCCTGCAGGCAACATGACTCCCAGCTTTGGAGAAGGAAGATGTTCGGGAGAGAAAGGTTGAAAAGCACTTTTACAAGAAGAAGATATAAGCTAAGAAAGGGATCTGCTCCAACTCAGGCTTCAGAATAAATCGAAATAACTCTCCTGAGGACGCCTCCACATCCTGCAAAAGGTCTTTCTGGCAGTCGCTGTTTGCCTTACCCTCTCCCAATCACAATCTCCTGGCACTTGACCGAGCAGTCTCACAATATGAAGTTAAGGAGGGTCTGAAAGCAGGGATTTGACAGCATGCCTAAAATCATAGCTTTACCATTAGGGTTCTGGTGGGTAACTCGATTCTTGAAGCTCCATAACATCCATTTTCCTATTATGAGCAGAGGAAATAAACATGCAGATGGCTTGGTTTCCTTCGCATAACTTGTACAGGGGTAGGTAGCATAAAAGACCGCCGTTCTCAAGAGGCAACCATGCGCCTCACTACTTACCATGTTCCTGCGGGGCATCCTCTCCCGTAGGGAGTCTCTGAAAACAAACACACACAGAAGTTGGCGCTGGGCACCACATTCTCCTCTTGACCTAACCATCAGGAATTTGCTGTGCCATCTGTTCATAAAACTTAGCCAGGCCCAGAAAGCTTGTCCCAACCACATGCTAAGAGCCAAGCAGATGGAACAGAAGCTCCCCCAAGCTGCTGGCTCCCACTATGGCTGGGATGAAGCAAGAACCTGGGCCCACACAGGCTGCAAGGCAGCAGCTCCACCCAAACTCACATCACACTCTACGTTCTGATTTTCTCAGTCTCTCTCCCTTCTGGGAATAAAATTGAGGATTCCTGTTCTCTTTTACACCTTTGGGGAACTCATATTCTAGAATACA
|
benign
| 324,146 |
Is the genetic change at chromosome 22, position 26466245, within gene HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Hermansky-Pudlak_syndrome_4']
|
TGTCCTGGATCTAAGCGAGGCAATAACAAGGGCCTGCGGGTCCTTCTGGGGAGAGGGTCTGCTCTGGGAATGGGGGCTTGGCTGCTATGGCCAGGATGGTCTTCGAGCTGCTCTTGGGCTCCATGCTGGGTCAGCATCTCAGGAGCAGAGGGAGGGCGCAAGCTGCTGATGGCTGTGTCCTCAGGAGGCGTGGGTTCCAGGCTGCTGGAGGCGCTGAGAGATGCCTTGCAGTAAGGAGCCCTGCCATCTGGAACAGGCACATGTAGGAAGGCAAAATGACCTGAGGCCATTTCCACTTCCTGAGCCTCTGGAATGTGGATTTCAGACAAGTCGAGTTCTTCTTGGAGAAAGACTAGTTCCTTCCCCAGGGAGGAGCTGAGGCCAAGAACCTCACCCCTGGCAGAGTTGTGCAGTCCTGCGGGCCTGATGCTCTCCAGATCATGGCCAGACAAGCATCCGTTCTCCTTCCTGCCATCTGGACAAGCTTCGTCAGGGGATGTGGGATCTGGGGTGGTCCAGGCCATGGATTCCACATGGCCAGTGGCGTTTTCTTTCAGGGCAGATGTGCTCCCACCCTTTGGATGGTGCTGGGCTGAACCATCCTGGAGTCCTGCTGGAGATGCTAGAGACCTGGCAAACAAGAGAGATGTAAGGAAGGGGCACGTTGACAGACTGCAGGGCAAGTGCCCTTCCACAGTGAAGACTAAAGCACAGGCATCAAGGACAAGGGGGTGCCTGAGGCCACAGAGCCTAAGAGGCCACCAGAGTTAAATCACAAGAGTAAAAATACACCAACATCTGGCCCTTGGGGCTTTACGTAGTGACACCAGACTCACCTACTGAAAATGGCAGAGCCCACTGAATAAGACTGACCCACATCTGGAAGGTCTCCTACGCATCAGGCCCTATACTAGGTGCTGTACCTATACTATTTTCAAGTGTCACAATGAACTCATGAAAGGGATACTATTTTGTCTACTTTTCAGATGAAAAAACTGAGGCTCAGGCAGGGAATGGACTTGCCCAAGGTCCCATAGCTGGTATAAGTAAGAGAGCTGGGATATGAAAGCCAATGTCATCTCTCTATGCCACTCTGTTTCTTAACAAACTCAAGATTCAGATGCTCCTTTACAAGACAGGGCATGGGGAAGATGGAATTAAGGAACGATGGGATGTATCAGAGGTTTGTTTTTTAACCAATCACGCGATGGGGTCCCTCAGGTGTGGTGCAAGGTTAACTCTCTGTGCACTCCATTACCTTGTCATCTGTTCCACCGGGAACTCGTGGAGACTAATGGCTTCCTCTTTGGTCACAAAAACAGGGATAATCTGGACATTCGGGGGCAATGCCGCTCCTGGAATTGCAAAGCAATATGAACAGGACTTTCCCCTGAGCCAGAGAGGGCAGCGGGGCAATAGCTGCACTGGCGTGATGCATCCAACCCACACGTGGGCTCGGAAAGGGGTGCTGTGAGTGCATTCCTCAGCCAGGACACAGGTTGCCAAACTGCACCTCGAACTCCTGGGCCCAGTAAGGAAAGAGTCCCTGCAGGCAACATGACTCCCAGCTTTGGAGAAGGAAGATGTTCGGGAGAGAAAGGTTGAAAAGCACTTTTACAAGAAGAAGATATAAGCTAAGAAAGGGATCTGCTCCAACTCAGGCTTCAGAATAAATCGAAATAACTCTCCTGAGGACGCCTCCACATCCTGCAAAAGGTCTTTCTGGCAGTCGCTGTTTGCCTTACCCTCTCCCAATCACAATCTCCTGGCACTTGACCGAGCAGTCTCACAATATGAAGTTAAGGAGGGTCTGAAAGCAGGGATTTGACAGCATGCCTAAAATCATAGCTTTACCATTAGGGTTCTGGTGGGTAACTCGATTCTTGAAGCTCCATAACATCCATTTTCCTATTATGAGCAGAGGAAATAAACATGCAGATGGCTTGGTTTCCTTCGCATAACTTGTACAGGGGTAGGTAGCATAAAAGACCGCCGTTCTCAAGAGGCAACCATGCGCCTCACTACTTACCATGTTCCTGCGGGGCATCCTCTCCCGTAGGGAGTCTCTGAAAACAAACACACACAGAAGTTGGCGCTGGGCACCACATTCTCCTCTTGACCTAACCATCAGGAATTTGCTGTGCCATCTGTTCATAAAACTTAGCCAGGCCCAGAAAGCTTGTCCCAACCACATGCTAAGAGCCAAGCAGATGGAACAGAAGCTCCCCCAAGCTGCTGGCTCCCACTATGGCTGGGATGAAGCAAGAACCTGGGCCCACACAGGCTGCAAGGCAGCAGCTCCACCCAAACTCACATCACACTCTACGTTCTGATTTTCTCAGTCTCTCTCCCTTCTGGGAATAAAATTGAGGATTCCTGTTCTCTTTTACACCTTTGGGGAACTCATATTCTAGAATACAGTCACATCTGCCACAGCCCTGATGTAGAATTCACATAAATTCCATTATAATAAAAATGTCAAAATACTGTGACTCTCACGATAAAGGATTTGACTTAAACAAAATGCTATACCCAATCTCTCGTTTGTTCTGGTTCACAATCAGGGCCTAAAACCTGATGATTTTCTCAAAAATGAAAACATCTCTCGTTTCAATCTGAGGGTTCCAAAAGAACCCACCAAAACAAAACCAAACCAAACAAGAACTGCTCTTCTAGCCAAAATGACTTTCAATCTTAGAATGATATGGTGTTCTTCCTTTTTTGGTGATTTTTAAAAAACTATGTTTTAGATTACTAAGCCTAACCTCAATTTACTCTAGACAAAGCGTTGAAAAAAAAAATCACATACAATCCCTCATCCCCAAGCTAGTACTATTAATATTGGGTATTTTTTCCTTAAGCCTATGCAGTTTTTATACTTTTGAGGCCACACTATATAAAATTTCATATTTCTGCTTAAAACAGTAACACGCATTTCCTGCCACTAAAACATCTTTGGCCATTTTAAACGGCTGATTAAAATTTTATGAAGGTTTAAGTGATATGAGTAAATTAATCATTTACCTACCTTAGACCAGTAATTAGTAAACTTTCTGTGCAAAAGACAAGACAGTAAATATTTTTGGCTTTGCAGGGCATATGGTCTCTGTCCCACCTACTTGGTTCTGCTATTATAGCTCAAAAGCAGCCAAATAAAACTTCATTTGTAGGCAGGTGGCCCACAGGCCATAATTTGCCACCTCCTACTTTAAGCATTCAAGTTTTGTCTGATTTTTCACTTTCATAAAGCTTGTTGTGATCAAGTTTTGAGTATAAATTTTTTTCAGCAGTTACATTATTTCCTTAAGATATATTCCTAGAAGTCAAATTATTAGGAAAAAAATAAAGGGCATCCTTAACGTTCTCATTATCAAAGTGTTTCCCAGAAAGGCTACTTGAATTGACACCCATAGCCACAGTGGCTGAGGAGGCTGAATAGAGCCCTACCAGCATTTTACATGCCTGTTCACTAATACATGTAAAAAGACAGCCTCATGATACGCTGGAAACCACAGCTTCATACACAAAACAAAAAAAGGACTGGAAGGAGATATGCCAGATGCTGGCAGTGGCTATCCCTGTACAGTTCAAAGATGGGCAATTTTATTCTCAATGAGCATGCATGGCTTTTTTTTCAATATAAAAACAATTAAATAAATATAAAATGGAAGTATTTTAGAAGAGTTTGTTTTCCTTATTTTTTTATTTTTATTTTTATTTTTTGAGACAGAGTCTCACTCTTGCTACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCTCAACCTCTGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATTTTAAATAGAGATGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAGTGATCTGCCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGTGTGAACCACCGTGCCCAACCCCCTAAATCTTTCTAAAGACACATCCTTTACAGTCTGTCTCTGAAAAGTCTAACATCTCTTTGACATAAAGAGACATCAAATTCTTATGG
|
TGTCCTGGATCTAAGCGAGGCAATAACAAGGGCCTGCGGGTCCTTCTGGGGAGAGGGTCTGCTCTGGGAATGGGGGCTTGGCTGCTATGGCCAGGATGGTCTTCGAGCTGCTCTTGGGCTCCATGCTGGGTCAGCATCTCAGGAGCAGAGGGAGGGCGCAAGCTGCTGATGGCTGTGTCCTCAGGAGGCGTGGGTTCCAGGCTGCTGGAGGCGCTGAGAGATGCCTTGCAGTAAGGAGCCCTGCCATCTGGAACAGGCACATGTAGGAAGGCAAAATGACCTGAGGCCATTTCCACTTCCTGAGCCTCTGGAATGTGGATTTCAGACAAGTCGAGTTCTTCTTGGAGAAAGACTAGTTCCTTCCCCAGGGAGGAGCTGAGGCCAAGAACCTCACCCCTGGCAGAGTTGTGCAGTCCTGCGGGCCTGATGCTCTCCAGATCATGGCCAGACAAGCATCCGTTCTCCTTCCTGCCATCTGGACAAGCTTCGTCAGGGGATGTGGGATCTGGGGTGGTCCAGGCCATGGATTCCACATGGCCAGTGGCGTTTTCTTTCAGGGCAGATGTGCTCCCACCCTTTGGATGGTGCTGGGCTGAACCATCCTGGAGTCCTGCTGGAGATGCTAGAGACCTGGCAAACAAGAGAGATGTAAGGAAGGGGCACGTTGACAGACTGCAGGGCAAGTGCCCTTCCACAGTGAAGACTAAAGCACAGGCATCAAGGACAAGGGGGTGCCTGAGGCCACAGAGCCTAAGAGGCCACCAGAGTTAAATCACAAGAGTAAAAATACACCAACATCTGGCCCTTGGGGCTTTACGTAGTGACACCAGACTCACCTACTGAAAATGGCAGAGCCCACTGAATAAGACTGACCCACATCTGGAAGGTCTCCTACGCATCAGGCCCTATACTAGGTGCTGTACCTATACTATTTTCAAGTGTCACAATGAACTCATGAAAGGGATACTATTTTGTCTACTTTTCAGATGAAAAAACTGAGGCTCAGGCAGGGAATGGACTTGCCCAAGGTCCCATAGCTGGTATAAGTAAGAGAGCTGGGATATGAAAGCCAATGTCATCTCTCTATGCCACTCTGTTTCTTAACAAACTCAAGATTCAGATGCTCCTTTACAAGACAGGGCATGGGGAAGATGGAATTAAGGAACGATGGGATGTATCAGAGGTTTGTTTTTTAACCAATCACGCGATGGGGTCCCTCAGGTGTGGTGCAAGGTTAACTCTCTGTGCACTCCATTACCTTGTCATCTGTTCCACCGGGAACTCGTGGAGACTAATGGCTTCCTCTTTGGTCACAAAAACAGGGATAATCTGGACATTCGGGGGCAATGCCGCTCCTGGAATTGCAAAGCAATATGAACAGGACTTTCCCCTGAGCCAGAGAGGGCAGCGGGGCAATAGCTGCACTGGCGTGATGCATCCAACCCACACGTGGGCTCGGAAAGGGGTGCTGTGAGTGCATTCCTCAGCCAGGACACAGGTTGCCAAACTGCACCTCGAACTCCTGGGCCCAGTAAGGAAAGAGTCCCTGCAGGCAACATGACTCCCAGCTTTGGAGAAGGAAGATGTTCGGGAGAGAAAGGTTGAAAAGCACTTTTACAAGAAGAAGATATAAGCTAAGAAAGGGATCTGCTCCAACTCAGGCTTCAGAATAAATCGAAATAACTCTCCTGAGGACGCCTCCACATCCTGCAAAAGGTCTTTCTGGCAGTCGCTGTTTGCCTTACCCTCTCCCAATCACAATCTCCTGGCACTTGACCGAGCAGTCTCACAATATGAAGTTAAGGAGGGTCTGAAAGCAGGGATTTGACAGCATGCCTAAAATCATAGCTTTACCATTAGGGTTCTGGTGGGTAACTCGATTCTTGAAGCTCCATAACATCCATTTTCCTATTATGAGCAGAGGAAATAAACATGCAGATGGCTTGGTTTCCTTCGCATAACTTGTACAGGGGTAGGTAGCATAAAAGACCGCCGTTCTCAAGAGGCAACCATGCGCCTCACTACTTACCATGTTCCTGCGGGGCATCCTCTCTGAAAACAAACACACACAGAAGTTGGCGCTGGGCACCACATTCTCCTCTTGACCTAACCATCAGGAATTTGCTGTGCCATCTGTTCATAAAACTTAGCCAGGCCCAGAAAGCTTGTCCCAACCACATGCTAAGAGCCAAGCAGATGGAACAGAAGCTCCCCCAAGCTGCTGGCTCCCACTATGGCTGGGATGAAGCAAGAACCTGGGCCCACACAGGCTGCAAGGCAGCAGCTCCACCCAAACTCACATCACACTCTACGTTCTGATTTTCTCAGTCTCTCTCCCTTCTGGGAATAAAATTGAGGATTCCTGTTCTCTTTTACACCTTTGGGGAACTCATATTCTAGAATACAGTCACATCTGCCACAGCCCTGATGTAGAATTCACATAAATTCCATTATAATAAAAATGTCAAAATACTGTGACTCTCACGATAAAGGATTTGACTTAAACAAAATGCTATACCCAATCTCTCGTTTGTTCTGGTTCACAATCAGGGCCTAAAACCTGATGATTTTCTCAAAAATGAAAACATCTCTCGTTTCAATCTGAGGGTTCCAAAAGAACCCACCAAAACAAAACCAAACCAAACAAGAACTGCTCTTCTAGCCAAAATGACTTTCAATCTTAGAATGATATGGTGTTCTTCCTTTTTTGGTGATTTTTAAAAAACTATGTTTTAGATTACTAAGCCTAACCTCAATTTACTCTAGACAAAGCGTTGAAAAAAAAAATCACATACAATCCCTCATCCCCAAGCTAGTACTATTAATATTGGGTATTTTTTCCTTAAGCCTATGCAGTTTTTATACTTTTGAGGCCACACTATATAAAATTTCATATTTCTGCTTAAAACAGTAACACGCATTTCCTGCCACTAAAACATCTTTGGCCATTTTAAACGGCTGATTAAAATTTTATGAAGGTTTAAGTGATATGAGTAAATTAATCATTTACCTACCTTAGACCAGTAATTAGTAAACTTTCTGTGCAAAAGACAAGACAGTAAATATTTTTGGCTTTGCAGGGCATATGGTCTCTGTCCCACCTACTTGGTTCTGCTATTATAGCTCAAAAGCAGCCAAATAAAACTTCATTTGTAGGCAGGTGGCCCACAGGCCATAATTTGCCACCTCCTACTTTAAGCATTCAAGTTTTGTCTGATTTTTCACTTTCATAAAGCTTGTTGTGATCAAGTTTTGAGTATAAATTTTTTTCAGCAGTTACATTATTTCCTTAAGATATATTCCTAGAAGTCAAATTATTAGGAAAAAAATAAAGGGCATCCTTAACGTTCTCATTATCAAAGTGTTTCCCAGAAAGGCTACTTGAATTGACACCCATAGCCACAGTGGCTGAGGAGGCTGAATAGAGCCCTACCAGCATTTTACATGCCTGTTCACTAATACATGTAAAAAGACAGCCTCATGATACGCTGGAAACCACAGCTTCATACACAAAACAAAAAAAGGACTGGAAGGAGATATGCCAGATGCTGGCAGTGGCTATCCCTGTACAGTTCAAAGATGGGCAATTTTATTCTCAATGAGCATGCATGGCTTTTTTTTCAATATAAAAACAATTAAATAAATATAAAATGGAAGTATTTTAGAAGAGTTTGTTTTCCTTATTTTTTTATTTTTATTTTTATTTTTTGAGACAGAGTCTCACTCTTGCTACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCTCAACCTCTGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATTTTAAATAGAGATGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAGTGATCTGCCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGTGTGAACCACCGTGCCCAACCCCCTAAATCTTTCTAAAGACACATCCTTTACAGTCTGTCTCTGAAAAGTCTAACATCTCTTTGACATAAAGAGACATCAAATTCTTATGGNNNNNNNNNNNNNN
|
pathogenic
| 324,157 |
Variant on chromosome 22, at position 26479349, affecting HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Hermansky-Pudlak_syndrome_4']
|
GAAGAACATGTGATTGAAACCTTATGTGCCTTGCAAAGCCTAAAATATTTACTTTCTGGCCCTTTACAAAGTTTGCCAACCCCTACCTGAGATGACTGAACCCTAAGAGAACACCCAGCAGGAACACATGCGATGACTGCACAGAACCGCATTTCTGTTGCTAGGATTATAGGCATATGCTTAGCAGAAGCATGAGCCTTTCACTCCTACTCAAATCCCCCATACGGAGTGGCCAGAGGGATGCAGATTAACCCCAACTATCCATGTCAGAGCACAGTCACAGGAGGGAATGTACAGAATCTCCTAATCAACCTTAGCCTTAACTAACGCACAGGACAGCCAGACAGTATGGGATACACAGGAAATGTATACACCACCCATGAAGAATTCTTACCTAGAAAACTGAGCTTGAACCTCACCAAGACTCTAGATCTTACTACTAATGTAAAGGAAATACAGTGGATAGGAGACATTAAATGACACCACCATGAGGAACAAATCAGCCAAATCTAGAGTGTGGGACATTCTAACACTCTACTACACATATGACCTGGTTTCTTCAATAATTCAATGGCATAGAGGAGGGGGAAAAAGATGAGTGGCTGGGTGAGGACTGTTATTAAAAGGACTTAAAATACAAAATAACCAAATAGAATATGTGGATGCTGTTTGGATCCTTATTAGGAAAAAGAAAAAGAAATGGAAGGATGGAAGTATGGGTGCATGGAAGGAAGGAAGAGCAGAATAAGTAATATCCAAGACAATAAGGCAAAATTTGAATACAGTCTGGGTATCAGGTAATATTAAGGAATTACTGTTACTAATTACTGTAACTTTCGTTAGGTGTGGTAATGTTCAAAATAATGCCCTTTTCAGTTAGAGATGTTGCTTGATACTGGTGAGATGACGCAACATCTAGAATTTGCTCCAGGAAAAAAAAAAGAGAGAGAAGAAGAGGTTCAGATAGGTCACATAAAATTGGCAAAGTATTGCCGGGCGTGGTGGCTCACGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCGGGCGTGGTAGCGGGCGACTGTAGTCCCAACTACTCGGGAGGTTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCATGCAGTGAGCAGAGATCATGCCACTGCACTCCACCCTGGGTGACAGAGTGAGCCTCCATCACAAAAAAAAAAAAAAAAAAATCGGCAAAGTATTGATAATTGTTGAAGCTACTGATGGCATATGAGGGTTCATGATACTTGCCTCTCTGTTTTTGTATATGTTTGAATACAAACTTATTTATTTATTTTTTTTGAGATGGAGTTTCACTCTTATTGCCCAGGCTGGTGTGCAATGGCGCAGTCTCTGCTCACTGCAACTCTGCCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCGTGCCACCACGCCCAGCTAATTTTGGGATTTTTAGTAGAGACAGGGTTTCATCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCCACCTCAGCCTGCCAAAGAGCTGGGACTGCAGGCATAAACTACCGTGCCCAGCAGAATAATAACTTTTAAAAACCAAGCTGATCAAAAAATTGGGGGTAGAGGGAGGCAGACAAAAATCATGATGGAAATAGAAAGCTAAAGACGATGAAAGTGCCGAGCTGCCTGGAAATTTTAAGACCAGAACAACAAGAAATAGTACAACTAAGAATAAGACAGTAGAAATGTCATTGTCTGGATTAGCCAAACTGTCCTAATGTAAACCCCATACTTTTGAAAAGTCACCACTTGGAGGCACTGGGATCCTCACTGAACAATAAAATGCTGTGTGGCTTACCTGGGAAGGATAAAAGTAACAAATGCCAGCTCTTGTTGGATCGCCTTCTTCCTTTACCTTGGAACCATCATAAAGAAAAAAATAATTCCACCTGGCAAGAGAACAGAGTGGAGCCATGTTTCCTTTAATCCAGTGATCACGGCATTTAAAACACAGCTTCCTGTTTCCCAGCCCGAGGAGGGCTTATTACTGTGTTTGAAAGCCTTCAGGTGGCCCCAGAGAATAAAGAACCCCAGTAGCTACAAATTAGATAAAACCATTCTGTAAGCGCAGGAAATTCAAACTAAAAATATGCCTCTATCCAGCCGTTAGACCATCTGCCGGAGAAGACACGAGTAGCTAGAAAAAAAAACGAGGCGCCCACAATGACTGCTCTTATTTGAAACACTGAACCTTAACTATACAACCACATGGTCTGATACGCTGTCTTTTAAGGCTCTGATAACAAAATAAGTTAGGGATGTATTAGATGCACTCCTCATAAGTGCTGAGCACAAAGATTTCCAGAAACAGCCCTTCTACCAGGAATTCATGCATTCACTTAAACATTTACTGAGGGCCCACAGTGTGCTCCGCGGTTGCTGAGCAAACACGCAGTTTCAATGCAGGATAGTGAGTCCAAAAGTTCGTAACAGGGAAAAAACAGGGGCCTATGAGAATTTACAGAGAAACTCTGAACTCCTCTCTACCATGCCAAACCTCACCAAGTATCATTCAAGCACACTTCCTCATTAACCGTCTCCTGATTCCCTCGGCCCAGAGATATCTCTTTGTTCTGAATTTCCATGACCCTCTGTTCTTCCTCAAAGACTCTTACAGACTACACTGCAGTATAACTATATTACGTAATGTTATTATCTGATTACCTCTTTAAGACCATAAAACAAACACCTCAAAGGCCAGGCCTCAATTTTGTTTTGTTTTTACAGGGTCTCACTTTGTAGCCCTGTAGGCTGGAGTGCAGTGGTGCGATTGCGGTTCAGTGCAAACTCAATCTCCCAGGCTCAAGCCATCCTCCCGCCTCAGCCTCCCAAGTAGATGGGACTACAGGAGTGTGCCATCATGCTCGGCTATTTTTTTTTAAATTTTTTATAGAAACGAGTCTCACTATATTGCCCAGGCTGGTCTCAAATTCCTGGACTCAAATAATCCTGCCCTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCTACTGAGCCTGGCTGGACCTGTTTTACTTCTAAGTCTCTGAGAACACATTTATGAGGCTATAGCATAAACAAGCAATGGGACCAATGTGTCATCTGCTCTCTTCCCTGGATCTATGCCCTCTCTGAAGCCTCCCTCCATGGCTCCCACCCTGCCTTCCTGATGAAAAAGCACCAACTTGGCTGGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGAGAGGCCTAGGTAGGAGGACTGCTTGAGCTTAGGAGTTCGAGATTAGCCTGGGCAACACCGTGAAACCCCATCTCCACAAAAAACAGACAAAATTAGCCAGGCATGGTGGGGTGTGCCTCTGGTTCCAGTTACTTGGGATGCTGAGGTAGGAGGATCACTTGAGCCTGGGGGATTGAGGCTACAGTGACCTGAGATCATGCCACTGCACTCTGGCCTGGAGGATAGAGCAAGACCCTGTCTCAAAAACAAACAAACAAATAAATAAAGCACCAACTTGGTCTCTTGGCACTGTCCTCTTTCCCAATACCTAAGGCTGGATGTACAACTGGCTGCAGGGTAAGCTCAGATCAAAAAGCCTCAAAAAAGTTTCAAAGCCAACTCAGAAACTCCATGTGCACCCCATCCTCCCCTGTCCCCACGTTCTCTTGATGAAAGCATCCCTGCTTGTGCGGGCACACGAAAGAAAACTTGGGTGTCATTTTGAACTGCTCCATCTTTTTGACTTCCACATAAATAATCAGTCACTAAATCCTGCTAATTCTAGCTAAACCTGCTTTTCACCTTCATCTCCTCTATGACTGATGTTTGCTAAACCTAATTATGGGAAAGGATTAACGCATTTAGGGTTGAGAAGGGAACTGGGTTTCAGACAGACATTGAGTAATACCCCTTGATACCCAGTCTGGCCAGACCTCTCCTCATGCTGTAATTCTCAAATGC
|
GAAGAACATGTGATTGAAACCTTATGTGCCTTGCAAAGCCTAAAATATTTACTTTCTGGCCCTTTACAAAGTTTGCCAACCCCTACCTGAGATGACTGAACCCTAAGAGAACACCCAGCAGGAACACATGCGATGACTGCACAGAACCGCATTTCTGTTGCTAGGATTATAGGCATATGCTTAGCAGAAGCATGAGCCTTTCACTCCTACTCAAATCCCCCATACGGAGTGGCCAGAGGGATGCAGATTAACCCCAACTATCCATGTCAGAGCACAGTCACAGGAGGGAATGTACAGAATCTCCTAATCAACCTTAGCCTTAACTAACGCACAGGACAGCCAGACAGTATGGGATACACAGGAAATGTATACACCACCCATGAAGAATTCTTACCTAGAAAACTGAGCTTGAACCTCACCAAGACTCTAGATCTTACTACTAATGTAAAGGAAATACAGTGGATAGGAGACATTAAATGACACCACCATGAGGAACAAATCAGCCAAATCTAGAGTGTGGGACATTCTAACACTCTACTACACATATGACCTGGTTTCTTCAATAATTCAATGGCATAGAGGAGGGGGAAAAAGATGAGTGGCTGGGTGAGGACTGTTATTAAAAGGACTTAAAATACAAAATAACCAAATAGAATATGTGGATGCTGTTTGGATCCTTATTAGGAAAAAGAAAAAGAAATGGAAGGATGGAAGTATGGGTGCATGGAAGGAAGGAAGAGCAGAATAAGTAATATCCAAGACAATAAGGCAAAATTTGAATACAGTCTGGGTATCAGGTAATATTAAGGAATTACTGTTACTAATTACTGTAACTTTCGTTAGGTGTGGTAATGTTCAAAATAATGCCCTTTTCAGTTAGAGATGTTGCTTGATACTGGTGAGATGACGCAACATCTAGAATTTGCTCCAGGAAAAAAAAAAGAGAGAGAAGAAGAGGTTCAGATAGGTCACATAAAATTGGCAAAGTATTGCCGGGCGTGGTGGCTCACGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCGGGCGTGGTAGCGGGCGACTGTAGTCCCAACTACTCGGGAGGTTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCATGCAGTGAGCAGAGATCATGCCACTGCACTCCACCCTGGGTGACAGAGTGAGCCTCCATCACAAAAAAAAAAAAAAAAAAATCGGCAAAGTATTGATAATTGTTGAAGCTACTGATGGCATATGAGGGTTCATGATACTTGCCTCTCTGTTTTTGTATATGTTTGAATACAAACTTATTTATTTATTTTTTTTGAGATGGAGTTTCACTCTTATTGCCCAGGCTGGTGTGCAATGGCGCAGTCTCTGCTCACTGCAACTCTGCCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCGTGCCACCACGCCCAGCTAATTTTGGGATTTTTAGTAGAGACAGGGTTTCATCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCCACCTCAGCCTGCCAAAGAGCTGGGACTGCAGGCATAAACTACCGTGCCCAGCAGAATAATAACTTTTAAAAACCAAGCTGATCAAAAAATTGGGGGTAGAGGGAGGCAGACAAAAATCATGATGGAAATAGAAAGCTAAAGACGATGAAAGTGCCGAGCTGCCTGGAAATTTTAAGACCAGAACAACAAGAAATAGTACAACTAAGAATAAGACAGTAGAAATGTCATTGTCTGGATTAGCCAAACTGTCCTAATGTAAACCCCATACTTTTGAAAAGTCACCACTTGGAGGCACTGGGATCCTCACTGAACAATAAAATGCTGTGTGGCTTACCTGGGAAGGATAAAAGTAACAAATGCCAGCTCTTGTTGGATCGCCTTCTTCCTTTACCTTGGAACCATCATAAAGAAAAAAATAATCCACCTGGCAAGAGAACAGAGTGGAGCCATGTTTCCTTTAATCCAGTGATCACGGCATTTAAAACACAGCTTCCTGTTTCCCAGCCCGAGGAGGGCTTATTACTGTGTTTGAAAGCCTTCAGGTGGCCCCAGAGAATAAAGAACCCCAGTAGCTACAAATTAGATAAAACCATTCTGTAAGCGCAGGAAATTCAAACTAAAAATATGCCTCTATCCAGCCGTTAGACCATCTGCCGGAGAAGACACGAGTAGCTAGAAAAAAAAACGAGGCGCCCACAATGACTGCTCTTATTTGAAACACTGAACCTTAACTATACAACCACATGGTCTGATACGCTGTCTTTTAAGGCTCTGATAACAAAATAAGTTAGGGATGTATTAGATGCACTCCTCATAAGTGCTGAGCACAAAGATTTCCAGAAACAGCCCTTCTACCAGGAATTCATGCATTCACTTAAACATTTACTGAGGGCCCACAGTGTGCTCCGCGGTTGCTGAGCAAACACGCAGTTTCAATGCAGGATAGTGAGTCCAAAAGTTCGTAACAGGGAAAAAACAGGGGCCTATGAGAATTTACAGAGAAACTCTGAACTCCTCTCTACCATGCCAAACCTCACCAAGTATCATTCAAGCACACTTCCTCATTAACCGTCTCCTGATTCCCTCGGCCCAGAGATATCTCTTTGTTCTGAATTTCCATGACCCTCTGTTCTTCCTCAAAGACTCTTACAGACTACACTGCAGTATAACTATATTACGTAATGTTATTATCTGATTACCTCTTTAAGACCATAAAACAAACACCTCAAAGGCCAGGCCTCAATTTTGTTTTGTTTTTACAGGGTCTCACTTTGTAGCCCTGTAGGCTGGAGTGCAGTGGTGCGATTGCGGTTCAGTGCAAACTCAATCTCCCAGGCTCAAGCCATCCTCCCGCCTCAGCCTCCCAAGTAGATGGGACTACAGGAGTGTGCCATCATGCTCGGCTATTTTTTTTTAAATTTTTTATAGAAACGAGTCTCACTATATTGCCCAGGCTGGTCTCAAATTCCTGGACTCAAATAATCCTGCCCTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCTACTGAGCCTGGCTGGACCTGTTTTACTTCTAAGTCTCTGAGAACACATTTATGAGGCTATAGCATAAACAAGCAATGGGACCAATGTGTCATCTGCTCTCTTCCCTGGATCTATGCCCTCTCTGAAGCCTCCCTCCATGGCTCCCACCCTGCCTTCCTGATGAAAAAGCACCAACTTGGCTGGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGAGAGGCCTAGGTAGGAGGACTGCTTGAGCTTAGGAGTTCGAGATTAGCCTGGGCAACACCGTGAAACCCCATCTCCACAAAAAACAGACAAAATTAGCCAGGCATGGTGGGGTGTGCCTCTGGTTCCAGTTACTTGGGATGCTGAGGTAGGAGGATCACTTGAGCCTGGGGGATTGAGGCTACAGTGACCTGAGATCATGCCACTGCACTCTGGCCTGGAGGATAGAGCAAGACCCTGTCTCAAAAACAAACAAACAAATAAATAAAGCACCAACTTGGTCTCTTGGCACTGTCCTCTTTCCCAATACCTAAGGCTGGATGTACAACTGGCTGCAGGGTAAGCTCAGATCAAAAAGCCTCAAAAAAGTTTCAAAGCCAACTCAGAAACTCCATGTGCACCCCATCCTCCCCTGTCCCCACGTTCTCTTGATGAAAGCATCCCTGCTTGTGCGGGCACACGAAAGAAAACTTGGGTGTCATTTTGAACTGCTCCATCTTTTTGACTTCCACATAAATAATCAGTCACTAAATCCTGCTAATTCTAGCTAAACCTGCTTTTCACCTTCATCTCCTCTATGACTGATGTTTGCTAAACCTAATTATGGGAAAGGATTAACGCATTTAGGGTTGAGAAGGGAACTGGGTTTCAGACAGACATTGAGTAATACCCCTTGATACCCAGTCTGGCCAGACCTCTCCTCATGCTGTAATTCTCAAATGCN
|
pathogenic
| 324,175 |
Is the genetic variant on chromosome 22, position 26616148, gene CRYBA4, benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Cataract_17', 'Cataract_17_multiple_types']
|
ATCAATGACAATGGTGCCCAAAACTTCATTAGCAATTTTAATTTTGCCCCGGTCCTGTGATCCTGTGATCTCTCCCTGCCTCCACTTGCCCTGTGATATTCTATTACCTTGTAAAGTACTTGATGTCTGTGACCCACACCTATTCTCACACTCCCTCCCCTTTTGAAACTCCCTAATAAAAACTTGCTGGTTTTTGCAGCTTGTGGGGCATCACGGAACCTACTGACATGTGATGTCTCCCCCGGACGCCCAGCTTTACAATTTTTCTCTTTTGTACTCTGTCCCTTTATTTCTCAAGCTGGCCGACGCTTAGGAAAAATAGAAAAGAATCTATGTGAATATCGGGGCAGGTTCCCCGATACCAGGAGACAGGGATAAGAACGTCCAAGCCATGCTGTTCACGAGAGCAAAGCTAGCAACCACTGAAATCGTGCTTAGCAGGAAAGAGATGGTCACGCTCTGAAATATCAGGCAGCAGCCAGAATGAATGGCCGGCAGTCATGCGCAACAATATGGATGGATATTAGGGATCTCATAGTAAGTGAAAAGTACAAAGAAAAGCCCAGAATAATCACATTGCATATTTCAATAAATTAAAAACAAGTAAATCGGCCAGTTGCGGTGGCTCACACCTATAATTCCAGCACTTGGGGAGGCGGAGGCTAGGAGTTCGAGACCAGCCTGGATAATATGGCAAAACCCGTCTCATAATTCGGTCTCAAAATAAATGAATAAATAAAACAAGTAAATAAATATACATGTGTATGTGTGTATACATTTTTAAAGGAATAATGCATAAAATTGTATACAAAAGCAAGCAAGCAGATTACAGACACAGGTTGAGGATAGGACAGTATTTCCTGGAGTTGGGGAGGAAAATGATGGACTCAAGGGAGACACCTTAGAGTTAGGTAGAAAGTTTTTAACCAAGTCCTGGCTTTTATATGGGTGGTGGGTTTGTAGGTGCATATTGCATTATTAGAAATTAAATAAAACTAATGATTAAATAGGTACATAAATAAAAACCTGCCACGCACTGACCACATGAGAGCGTGTCATGAACTAGGGGTTGCAAAATGGCCTACTTCTGTGACCTGAGGTTGAAACCACACCAAACCAAATCCCAGGGGACTGGACACCTTGCTCCACAGGATGCCTTTCAGCCCAGACCACCTCGAGCAATTTTGAGGGTCTGAGGCCATCCTGCTGCCCCAGTGAGCCTCCAAGGACAGCTGGTTCCCTGCTGCTAAGCCAGCCCACTTCCTTTTCTTCTTTTTTTTTCTTGCTTTCGATAAACTCTAAGCATGTGCGTGTGCAGGTGTAGCCTGATTGCCAGGTGTCCCTTCAGCTGTGAAGCGGTATGGTTTGGTTGTTGTTATTGCACAACTCAACTATAGGTCCCCTTTTTCTTTCTATTCTTTTCTTTTTTTTTTTGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCCACTTTCTCCAAGTGTGTCAGAACCCCTGGCTATTTTATGGGCTCCCAGATTGGCTGGGCCACACTTGTGTCCCAGAAGGAGGAGGGAGGAGGAGGCCAAGGTGAGGGAAAAAGAGAATAGGGACAGAGGATAAGAGTCTGGGGAGGTGGAGAAGAAGAAAAGGGAGAGTAAATAGAAAGGAGAGAAAATAAGCCAAGAAAAAGGAGGAGAAAGAGGTGCGGAGGAGTAAGAGGTGAAAGAGGAAGAGGAGGAGGAGAAGAAGGAGGAGGAGGGAAGGAAGGAAAGAAGGCATGGCACCCAGCCACTGCACCCCCAGGTCCTTACCCTGTAGTTCCCAGGAGGCAGTTCCGCCGCCTTGGCGCTGGTAATAGGCACGGTTGTTGGGGCCAGGGTAGTGCCGGGACTAGGGGATGTTCCTGCAGGTGGGGCCCCCTTCCCCTTGGTGTCAGGCCCTGGGTTCACCGCCACTGTGGCCGAGGCCGAGGCCTTTGCAGCCTGAGACATGGTTCCCGCCTGCAAAAGTCTGTAAAGAAACTCTGGCCTTCAGGGATGACACCCCCAAACTGCCTCCTGCCCTCATAGCCCCACATCCTGTGCTTTCAGCCTCCTTGGAGCTCGTTTCCTCTCTATCTCCTTCTGAAACGGTTAAGCCTGGAAGTTTTTCTTTCATCCCTACTTCCCAGCCAAGACCTTCCCGTCTGGGGGCCACTCATCCCACATATATCCTTCCTCCAGGCTTTTGACCATGCGGTTCCCTCCACTAGCTGTTCCACCCTCCATTACCCCGCTAGGTCCTTCCTTAGCCCCCTGCAATTTTCCACACTGCTTATCACACTGATTTGCTTGTGCAACTCCAATTTGCCTCCCTAGACTAATAACAAGAAGTCCCATTTGGGAGTACTTAAGGTGTGCCAGGCACTGTGACATACATTAATTAACCCATCTGACCATGAACCTCACCCGATGGAGTAGCTGCTATCATGATCCCCTCTGAGCAGCAGGGGGCTGGAGAAGGAAGGGGCCCAGCTCAGGCCCAAACAGCTACTAAGTGGTAGGGCTCTGATTTCAACTCAAGGAAATGGAGCCAGCAACTGGGCTTTTAAAGTATTCTGCCATTTGCTTAATCTGATTTATTCACCGTCCATCCCTAACACTTGCTCTGCACCTGGCACATAGGAGATGCCCAATTAACATTTGTTCAGAGAATGAATGAATGCATGCTCCCAGCTCCTTTCCCCGTCTGCTTCCTCTGAGGGGTTGGTGTATGGGTGCAAATACAGGCCGGGGACTGAGGCTTATGGGAGGACCCAAGAGGATGTATTTACTGCATGTGGAGGGTTCTGAAAATGAGGACTGGGGCTGGGTAGGCTTTGGGTGGAGAGGGCTTTGGTCAATTCCAGTGGTTCCTTGTTGCTTTGGGGTCGTGGACTCCTTTGAATGTTTGATGAATACCTCAACTTTGTCCCCGGACAAAAATAATGCTCTCTTTAACTTTGGAGACAATGTTAAGGGATTTGAGGACCCCCTGCTAGCACAGATTAAGACCCTCTGGTCAAGCTGATTCCCGAACACATTCTGTAAGGCGGAGCTAGTTGGGATAAGCACATCCCTCCCCCAGCCTCCTCCAGGAAGGCTGTGCATATTCTGGGGTGCCCCCTGTTCACCAGGGGTGAGGCCAGACATCTGGACCACATCTGTGGCTTTAAACACTCCCCCAGGGCTGGCAGCTGGACTCATGCCTTCCTGGAGATATTCTCATTCTCTCTCTCTCCCTGCTTCACCCTCTCCCTCTGTTCCTCCTCTCTTCCCTGTCTTTGCCTCTCTATCTGTTTCTTACTTCTCTCCCTCTTTCTGCCTATCTGCCTGTCTGTTTCTCTCCCTCTCTGTTCCTCTCTCCCCCACTATCTCTCCCTCATTGTATCTTTGCTTATCTCTCTATCTGTCCTTTTTAATTATATTTACTTCTCTCTCTATTTCTGTCTTTTCTCACTCTCTCCCCTCTCCCTCTCCCTCCCTTTCTTCCTCTCTCCACTTCCGTCTTTATCTCCATGGCCCTGCTCTCTGACTCTCATGGCACTGCTATCTCTGCCTCCCTCTCTCTGTCTCCCTTTTCTCTTCCCCTCCCCTTCAGCTCTCAGCTGGGCTGTGGGTTCCCTCTTACCTGGGGACTTGCTACTTCCTGCTGGAGGACAGGCAGGCGGGCAGGTGCTATGGGTGACTAGAGTCCGACCCCCCATTTTATAGTCTGGCAGACATCAGGCCCTATAGTCTGTGGCACAAAGGGGAAGCTGGCTCAGCAGGCCTGGGCAGGGAGTGGGGGACTGGGGCCCTGACCTCGCCTGGATCACTGCAGACAGCAGCACTTTCCTTTGTGAGACCA
|
ATCAATGACAATGGTGCCCAAAACTTCATTAGCAATTTTAATTTTGCCCCGGTCCTGTGATCCTGTGATCTCTCCCTGCCTCCACTTGCCCTGTGATATTCTATTACCTTGTAAAGTACTTGATGTCTGTGACCCACACCTATTCTCACACTCCCTCCCCTTTTGAAACTCCCTAATAAAAACTTGCTGGTTTTTGCAGCTTGTGGGGCATCACGGAACCTACTGACATGTGATGTCTCCCCCGGACGCCCAGCTTTACAATTTTTCTCTTTTGTACTCTGTCCCTTTATTTCTCAAGCTGGCCGACGCTTAGGAAAAATAGAAAAGAATCTATGTGAATATCGGGGCAGGTTCCCCGATACCAGGAGACAGGGATAAGAACGTCCAAGCCATGCTGTTCACGAGAGCAAAGCTAGCAACCACTGAAATCGTGCTTAGCAGGAAAGAGATGGTCACGCTCTGAAATATCAGGCAGCAGCCAGAATGAATGGCCGGCAGTCATGCGCAACAATATGGATGGATATTAGGGATCTCATAGTAAGTGAAAAGTACAAAGAAAAGCCCAGAATAATCACATTGCATATTTCAATAAATTAAAAACAAGTAAATCGGCCAGTTGCGGTGGCTCACACCTATAATTCCAGCACTTGGGGAGGCGGAGGCTAGGAGTTCGAGACCAGCCTGGATAATATGGCAAAACCCGTCTCATAATTCGGTCTCAAAATAAATGAATAAATAAAACAAGTAAATAAATATACATGTGTATGTGTGTATACATTTTTAAAGGAATAATGCATAAAATTGTATACAAAAGCAAGCAAGCAGATTACAGACACAGGTTGAGGATAGGACAGTATTTCCTGGAGTTGGGGAGGAAAATGATGGACTCAAGGGAGACACCTTAGAGTTAGGTAGAAAGTTTTTAACCAAGTCCTGGCTTTTATATGGGTGGTGGGTTTGTAGGTGCATATTGCATTATTAGAAATTAAATAAAACTAATGATTAAATAGGTACATAAATAAAAACCTGCCACGCACTGACCACATGAGAGCGTGTCATGAACTAGGGGTTGCAAAATGGCCTACTTCTGTGACCTGAGGTTGAAACCACACCAAACCAAATCCCAGGGGACTGGACACCTTGCTCCACAGGATGCCTTTCAGCCCAGACCACCTCGAGCAATTTTGAGGGTCTGAGGCCATCCTGCTGCCCCAGTGAGCCTCCAAGGACAGCTGGTTCCCTGCTGCTAAGCCAGCCCACTTCCTTTTCTTCTTTTTTTTTCTTGCTTTCGATAAACTCTAAGCATGTGCGTGTGCAGGTGTAGCCTGATTGCCAGGTGTCCCTTCAGCTGTGAAGCGGTATGGTTTGGTTGTTGTTATTGCACAACTCAACTATAGGTCCCCTTTTTCTTTCTATTCTTTTCTTTTTTTTTTTGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCCACTTTCTCCAAGTGTGTCAGAACCCCTGGCTATTTTATGGGCTCCCAGATTGGCTGGGCCACACTTGTGTCCCAGAAGGAGGAGGGAGGAGGAGGCCAAGGTGAGGGAAAAAGAGAATAGGGACAGAGGATAAGAGTCTGGGGAGGTGGAGAAGAAGAAAAGGGAGAGTAAATAGAAAGGAGAGAAAATAAGCCAAGAAAAAGGAGGAGAAAGAGGTGCGGAGGAGTAAGAGGTGAAAGAGGAAGAGGAGGAGGAGAAGAAGGAGGAGGAGGGAAGGAAGGAAAGAAGGCATGGCACCCAGCCACTGCACCCCCAGGTCCTTACCCTGTAGTTCCAGGAGGCAGTTCCGCCGCCTTGGCGCTGGTAATAGGCACGGTTGTTGGGGCCAGGGTAGTGCCGGGACTAGGGGATGTTCCTGCAGGTGGGGCCCCCTTCCCCTTGGTGTCAGGCCCTGGGTTCACCGCCACTGTGGCCGAGGCCGAGGCCTTTGCAGCCTGAGACATGGTTCCCGCCTGCAAAAGTCTGTAAAGAAACTCTGGCCTTCAGGGATGACACCCCCAAACTGCCTCCTGCCCTCATAGCCCCACATCCTGTGCTTTCAGCCTCCTTGGAGCTCGTTTCCTCTCTATCTCCTTCTGAAACGGTTAAGCCTGGAAGTTTTTCTTTCATCCCTACTTCCCAGCCAAGACCTTCCCGTCTGGGGGCCACTCATCCCACATATATCCTTCCTCCAGGCTTTTGACCATGCGGTTCCCTCCACTAGCTGTTCCACCCTCCATTACCCCGCTAGGTCCTTCCTTAGCCCCCTGCAATTTTCCACACTGCTTATCACACTGATTTGCTTGTGCAACTCCAATTTGCCTCCCTAGACTAATAACAAGAAGTCCCATTTGGGAGTACTTAAGGTGTGCCAGGCACTGTGACATACATTAATTAACCCATCTGACCATGAACCTCACCCGATGGAGTAGCTGCTATCATGATCCCCTCTGAGCAGCAGGGGGCTGGAGAAGGAAGGGGCCCAGCTCAGGCCCAAACAGCTACTAAGTGGTAGGGCTCTGATTTCAACTCAAGGAAATGGAGCCAGCAACTGGGCTTTTAAAGTATTCTGCCATTTGCTTAATCTGATTTATTCACCGTCCATCCCTAACACTTGCTCTGCACCTGGCACATAGGAGATGCCCAATTAACATTTGTTCAGAGAATGAATGAATGCATGCTCCCAGCTCCTTTCCCCGTCTGCTTCCTCTGAGGGGTTGGTGTATGGGTGCAAATACAGGCCGGGGACTGAGGCTTATGGGAGGACCCAAGAGGATGTATTTACTGCATGTGGAGGGTTCTGAAAATGAGGACTGGGGCTGGGTAGGCTTTGGGTGGAGAGGGCTTTGGTCAATTCCAGTGGTTCCTTGTTGCTTTGGGGTCGTGGACTCCTTTGAATGTTTGATGAATACCTCAACTTTGTCCCCGGACAAAAATAATGCTCTCTTTAACTTTGGAGACAATGTTAAGGGATTTGAGGACCCCCTGCTAGCACAGATTAAGACCCTCTGGTCAAGCTGATTCCCGAACACATTCTGTAAGGCGGAGCTAGTTGGGATAAGCACATCCCTCCCCCAGCCTCCTCCAGGAAGGCTGTGCATATTCTGGGGTGCCCCCTGTTCACCAGGGGTGAGGCCAGACATCTGGACCACATCTGTGGCTTTAAACACTCCCCCAGGGCTGGCAGCTGGACTCATGCCTTCCTGGAGATATTCTCATTCTCTCTCTCTCCCTGCTTCACCCTCTCCCTCTGTTCCTCCTCTCTTCCCTGTCTTTGCCTCTCTATCTGTTTCTTACTTCTCTCCCTCTTTCTGCCTATCTGCCTGTCTGTTTCTCTCCCTCTCTGTTCCTCTCTCCCCCACTATCTCTCCCTCATTGTATCTTTGCTTATCTCTCTATCTGTCCTTTTTAATTATATTTACTTCTCTCTCTATTTCTGTCTTTTCTCACTCTCTCCCCTCTCCCTCTCCCTCCCTTTCTTCCTCTCTCCACTTCCGTCTTTATCTCCATGGCCCTGCTCTCTGACTCTCATGGCACTGCTATCTCTGCCTCCCTCTCTCTGTCTCCCTTTTCTCTTCCCCTCCCCTTCAGCTCTCAGCTGGGCTGTGGGTTCCCTCTTACCTGGGGACTTGCTACTTCCTGCTGGAGGACAGGCAGGCGGGCAGGTGCTATGGGTGACTAGAGTCCGACCCCCCATTTTATAGTCTGGCAGACATCAGGCCCTATAGTCTGTGGCACAAAGGGGAAGCTGGCTCAGCAGGCCTGGGCAGGGAGTGGGGGACTGGGGCCCTGACCTCGCCTGGATCACTGCAGACAGCAGCACTTTCCTTTGTGAGACCAN
|
pathogenic
| 324,194 |
Gene MN1 (MN1 proto-oncogene, transcriptional regulator) variant at chromosome 22, position 27798945—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
AGGTCAATGGTGCTCATGGCGCTCTTGACCGCCTCGGAGCAGCAGCTGCCCAGCTCGCTGTCGCCATTCTGCGCCCCTGAGGCCCCGACGGCGCACTCACCCTTCTTGCCACCCTTCAGCCCCAGAGGCTGGTCCTCGGAGATGCTGAACTGCTGCCTCTGTAGCTGGATCTGCGCCTGAAGGATCTCCAGGGGGTGGATCTCGTCGGGTGGCGGGGCGCCGCTGCTGCTCGTCGGGGTGCGGACCTGCTCCAGGCCCGGAGTGCCCGGATGGCCCGGGCCCCCACCGCCGCCGTAGCTGTCAGGGGTCGAGGTAGAGTTAGACATGATGCCCAGGCCGAGGGCGGGCGGGGGCGCCTTCGGTCCGTGTTCCCCGGCGCCTACCCCACGGGGAGGGAGTTTGGGCGAGCCGGTCACCAGGGGACTCCTGCTCGCTTTAACTAGTGCCTGGGGGTTGTCAGAGCTGGACGACACCTCGTCCTCATTGGCGTAGCTCGTGCTCACCTCGTCCGAGGCGAACTCACCCACGTTTGGCGAACTACTGTCCGACTTGGCCCCGCCGTCCAGGGACCCAATGAGGTCCGGCTGATCCCCCAGGAGCAACTCAGCCCCCTTCCCCCAGGATGGCGACGTGAGCGCCTTTTCGTGGGGCGTCGGTGCCCCGCGCGTCTCGCCTGCGGAGCTTCCCCCGACGGCTGCGCCTGACGCTTGCTGCTGCCCTGGGCTCACCCCAGGTGCGCCCCCGCTGTCCGGAGCCGCCGAGTACTTGTCAAAGAAGGTGCCAGGGCTCACGTGACCACTGTCCCTTTTTCTGCGACCCCGTCCCCGGCCGCCGCCCCCGGAGACCGGCTTGCCGTCATTCCCCGACGTGGATTCCAGGGTGTAGTTGGGGGAGAGGCTGGTGCCGTCCCCCTGGGCTGGAGGGTTGGGCGGCCCCGAGGCTTTGGAGCCGCTGCTACTGGTCCCGGACGGGCCTCCGGGTCCTGGGGCCCCAGGAGCAGTCCCTCCTGGGAAGTAATCCGAGCCCGGGTTGCCGGCCACTGCCGCGCCGTCGGTCTCGTTCTGGCTCAGTTTCCTCTTGCCCTCTGGCGGGTTCTTCTTGTTGAAGGTCACGTTGAGGTTGGGGGCCCCGAGGCTGGCGATCATGTTCTGGCAAGCGGTGGAGAGCGCAGCCAGGCAGCTCTGGCCGAACAGGTTGTCCTTGGAGCTGGGCTTGTTGAAGGAGCCCAGCGAGAGCGCGCCCAATTTACTGGCCGAGGTGCGCTGGCTGGGCTGGAAATCAGGCTGCGGCGGGTAGGCACCCCCGCCACCGCCGCCACCAGAGCTGCCACCGCCCCCTCCCGCGCTGGGGGGCGAGTTCACGCCTGGACCGCTGTGCGGCGTGGACTGCCGGCCGGCTGCACCAAACGGAAAGCCCGGCTGGCCCCCGAGCGCAGACGTAGCAAAGTCCGGCGGCGGGGGCCGGCGCTCCGAAGCAGCGCTGGGGAGCCCCACGCCCGCCCCGGGCGACTGCAGCTGACCCAGGCCTCCCAGACTGCCCCCGAACTGCAGGCCCGGTGAAGGCAGCGCGGGCACGTGGCCCTCTCCGGGCATCCTCATCGGCTCCTGCAGAGGGCCCCGGAACAGCACCCCCGAGCCACCAGGCGGAGGAGGGGGCGCCAGGCTGGGGTCGTGCGGGCCACAGTCAGCGGGCAGACCCGAGCCGCCCATCCTACGGGGCAGCAGGTCTCCGGGCGGCGGATGCGGACCTGAGAACCACGCGCTCTCTTGCGCCAAGTGCGGCGCCTGCTGCTCGAAGGTGCCCAGACGCCCGGCGCCCGTGCTGCCGCCTTCGCGCTCAAAGTTCGGCTGGGCCAAGCCGCCCACCGGGCCGCCATGCACCAGGCCGCCCTGGCCCACGTCCCCGGGGTGGCCTAGCTGAGCCAGGTTGGGCTGGCGCAGCCGCTGCTGCTGATTCCGCGACGCCATCTGCTTAATCATGAGGGCCGCGTTTTGGCGCTGCTGCTGCTGCTGCTGTTGCTGTTGCTGTTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCAGGGACTGGTGGTCCGGGGCCGGATGCTGCAGGGGCGGCCCCGAAGGGAAGCTGTCGGGCACAGGCGGTGTGAACTCGCCGGGTAGGCCTGGGTAGGCGGAAGGGGAGAGGTGATTATCCAGAGCGCCGTTGTGCATGCTGCCGTTCCACGAAGCGCAGCGGTCCACTCCCGCGCTGCCCGGAAAGTCGAAGCGCGGCCTCTTGGCCACGTTCATGTAGGGGGGCGCGTCGAAATGCTGCAGCCGCTGGTTGGGCGCCTGCTGCGGAGGAGGATGCTGCATGCTGAAAACAGGCTCGGAATAAGGGTGCATGCTCCGGTTCTCCAGCCGGTGGATGGGATACTCGAATTGCGCGTGCTGGCTGGGCAGCATGGGGCCTCCGTCCTGCAGGCCGCCGCTGGGCGTGCCCGCCTCGCCCTGCTGGGGCCGAGGGAGCGCAGGCGGGCACGAATTTTGTCGGACTAGAAGCCCGGGTGGCGGCGGCGGCTGCTGCTGTGGCGGCTGCTGCGGGGGCTGCTGCTGAGGGGGTGGCGGGGCCTGCTGGGGAGGCTGCATTAACGGGTGCCTGGAGCCCACTGAGGGCTCCAGACCCACAGGCATCTTTCTGGCCCCACTGAACCTCTCAAAGAACACACCATGCTGCTGCTGCTGCTGCTGGGGCTGCTGCTGCTGCTGGGGCTGCTGCTGCGGTGGCTGGGCGTGCATTTTGGACAAGCCCACCATGCCCGCAGCTCTGGGCATGGCCGAGGCGCCCGGGAAAGCGCCCCCAGGAACCTGGCGACCCGCTGCATAATGAGGCAGCTGCCCTTCGGAGTCAGAGGGCGAAAACATGTCAAAATGTCCCGAGGGCGCCTCGCCCGGGTAATTGTATTCCAGCGAGTCGACGGCTCCTTGGTTCGTCACCCTCCGTGGCTCCAGACTGTGGGAATCGGAGCCGCTGGAGGACGGCAGGCCGTGGAAGGAGGCGGCTCGGTTAGGGCTCTGGTCCAGCGGCAGGCATGGGGCCGGCACGGCGTGGCTGGAGGCACCTGAACTGTGGAAGTCCGGGAGGTTCCCCGGTCGCTGCGGGCCGAAGCTCTCAGGCCCCTGGCTCTCCGCCATGTGCTCATAGCCCTCGGCGAAGGGCGGCTGGCTGCCCAGGCCTCCGGCTGCGCCGCCGTAGCCGAGCAGGCGACCCCCGTGCAGGCACGAGGCCCCGGGGTCCGGGCCACCGAAGTTGCCCCCAAAGTGGGGGTGATGCTGGTGGGGATGATGACTTCCCGGGTGGCCGTGGTGAGGCTGCTGGCCGCCAAAGAAGCCGTGCACAGGCTGCGCTTGCAGCCCCCCTGCGTGCAACTCCGAGTGGCCGCGCGCGTGGAAGCCGTAGGGCTCCATGTTCATGCCCAAGATCGGGGGTTCGCCCAGCGCGCTCATAGCAGGATCCACAGGGCCAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCTTAAAGTGGGTGTTCATGCTCAGTCCGGTCTCGTTAAAGTTCCTCTCGCCCTGGCCAGCGTTCCTGCTGTTGACCTGGGGCTCGAATTGGTCCAGCCCAAACATACTTGGCGGGGGGCAGAGGGGGATCAATAGGGCATGACAGCCGGCTCTCCGCGGCGCGCCTCCGGCCAGCTACTCGTTCCAGCCCAGGATTGGGCGCTCCGGGACGCTCAGCACCGCGGGGGCTCAGCGCGCACCTCCACCCCGCCTGATGTGAGGGACGGGGGGCGGGGTATTAGCTCCTCTCCTGAAGCTCCGATTCTGCCCGGGGAGGGCCTCTCACATCTTGCGAGGCCGCGGGGCCTCTAGGAGCCGTGTTGGGGGGCCCATGCCCCGGGCGGTTGTCACAGCCGCGGGTGGGTCTGCGGGGAGGGGACGAAGCCGCGGATGAACGGAGACAAAAAGTTAAGTGGGGGGAATGGGGAGGGAAGGGGGTTGGGAGAGCAGAGCGATCACCTTCTCAAGTCCGATTGGGTCTGCTGGGGAGCCCTCAGGACGCCGCCCGCAGCCTC
|
AGGTCAATGGTGCTCATGGCGCTCTTGACCGCCTCGGAGCAGCAGCTGCCCAGCTCGCTGTCGCCATTCTGCGCCCCTGAGGCCCCGACGGCGCACTCACCCTTCTTGCCACCCTTCAGCCCCAGAGGCTGGTCCTCGGAGATGCTGAACTGCTGCCTCTGTAGCTGGATCTGCGCCTGAAGGATCTCCAGGGGGTGGATCTCGTCGGGTGGCGGGGCGCCGCTGCTGCTCGTCGGGGTGCGGACCTGCTCCAGGCCCGGAGTGCCCGGATGGCCCGGGCCCCCACCGCCGCCGTAGCTGTCAGGGGTCGAGGTAGAGTTAGACATGATGCCCAGGCCGAGGGCGGGCGGGGGCGCCTTCGGTCCGTGTTCCCCGGCGCCTACCCCACGGGGAGGGAGTTTGGGCGAGCCGGTCACCAGGGGACTCCTGCTCGCTTTAACTAGTGCCTGGGGGTTGTCAGAGCTGGACGACACCTCGTCCTCATTGGCGTAGCTCGTGCTCACCTCGTCCGAGGCGAACTCACCCACGTTTGGCGAACTACTGTCCGACTTGGCCCCGCCGTCCAGGGACCCAATGAGGTCCGGCTGATCCCCCAGGAGCAACTCAGCCCCCTTCCCCCAGGATGGCGACGTGAGCGCCTTTTCGTGGGGCGTCGGTGCCCCGCGCGTCTCGCCTGCGGAGCTTCCCCCGACGGCTGCGCCTGACGCTTGCTGCTGCCCTGGGCTCACCCCAGGTGCGCCCCCGCTGTCCGGAGCCGCCGAGTACTTGTCAAAGAAGGTGCCAGGGCTCACGTGACCACTGTCCCTTTTTCTGCGACCCCGTCCCCGGCCGCCGCCCCCGGAGACCGGCTTGCCGTCATTCCCCGACGTGGATTCCAGGGTGTAGTTGGGGGAGAGGCTGGTGCCGTCCCCCTGGGCTGGAGGGTTGGGCGGCCCCGAGGCTTTGGAGCCGCTGCTACTGGTCCCGGACGGGCCTCCGGGTCCTGGGGCCCCAGGAGCAGTCCCTCCTGGGAAGTAATCCGAGCCCGGGTTGCCGGCCACTGCCGCGCCGTCGGTCTCGTTCTGGCTCAGTTTCCTCTTGCCCTCTGGCGGGTTCTTCTTGTTGAAGGTCACGTTGAGGTTGGGGGCCCCGAGGCTGGCGATCATGTTCTGGCAAGCGGTGGAGAGCGCAGCCAGGCAGCTCTGGCCGAACAGGTTGTCCTTGGAGCTGGGCTTGTTGAAGGAGCCCAGCGAGAGCGCGCCCAATTTACTGGCCGAGGTGCGCTGGCTGGGCTGGAAATCAGGCTGCGGCGGGTAGGCACCCCCGCCACCGCCGCCACCAGAGCTGCCACCGCCCCCTCCCGCGCTGGGGGGCGAGTTCACGCCTGGACCGCTGTGCGGCGTGGACTGCCGGCCGGCTGCACCAAACGGAAAGCCCGGCTGGCCCCCGAGCGCAGACGTAGCAAAGTCCGGCGGCGGGGGCCGGCGCTCCGAAGCAGCGCTGGGGAGCCCCACGCCCGCCCCGGGCGACTGCAGCTGACCCAGGCCTCCCAGACTGCCCCCGAACTGCAGGCCCGGTGAAGGCAGCGCGGGCACGTGGCCCTCTCCGGGCATCCTCATCGGCTCCTGCAGAGGGCCCCGGAACAGCACCCCCGAGCCACCAGGCGGAGGAGGGGGCGCCAGGCTGGGGTCGTGCGGGCCACAGTCAGCGGGCAGACCCGAGCCGCCCATCCTACGGGGCAGCAGGTCTCCGGGCGGCGGATGCGGACCTGAGAACCACGCGCTCTCTTGCGCCAAGTGCGGCGCCTGCTGCTCGAAGGTGCCCAGACGCCCGGCGCCCGTGCTGCCGCCTTCGCGCTCAAAGTTCGGCTGGGCCAAGCCGCCCACCGGGCCGCCATGCACCAGGCCGCCCTGGCCCACGTCCCCGGGGTGGCCTAGCTGAGCCAGGTTGGGCTGGCGCAGCCGCTGCTGCTGATTCCGCGACGCCATCTGCTTAATCATGAGGGCCGCGTTTTGGCGCTGCTGCTGCTGCTGCTGTTGCTGTTGCTGTTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCAGGGACTGGTGGTCCGGGGCCGGATGCTGCAGGGGCGGCCCCGAAGGGAAGCTGTCGGGCACAGGCGGTGTGAACTCGCCGGGTAGGCCTGGGTAGGCGGAAGGGGAGAGGTGATTATCCAGAGCGCCGTTGTGCATGCTGCCGTTCCACGAAGCGCAGCGGTCCACTCCCGCGCTGCCCGGAAAGTCGAAGCGCGGCCTCTTGGCCACGTTCATGTAGGGGGGCGCGTCGAAATGCTGCAGCCGCTGGTTGGGCGCCTGCTGCGGAGGAGGATGCTGCATGCTGAAAACAGGCTCGGAATAAGGGTGCATGCTCCGGTTCTCCAGCCGGTGGATGGGATACTCGAATTGCGCGTGCTGGCTGGGCAGCATGGGGCCTCCGTCCTGCAGGCCGCCGCTGGGCGTGCCCGCCTCGCCCTGCTGGGGCCGAGGGAGCGCAGGCGGGCACGAATTTTGTCGGACTAGAAGCCCGGGTGGCGGCGGCGGCTGCTGCTGTGGCGGCTGCTGCGGGGGCTGCTGCTGAGGGGGTGGCGGGGCCTGCTGGGGAGGCTGCATTAACGGGTGCCTGGAGCCCACTGAGGGCTCCAGACCCACAGGCATCTTTCTGGCCCCACTGAACCTCTCAAAGAACACACCATGCTGCTGCTGCTGCTGCTGGGGCTGCTGCTGCTGCTGGGGCTGCTGCTGCGGTGGCTGGGCGTGCATTTTGGACAAGCCCACCATGCCCGCAGCTCTGGGCATGGCCGAGGCGCCCGGGAAAGCGCCCCCAGGAACCTGGCGACCCGCTGCATAATGAGGCAGCTGCCCTTCGGAGTCAGAGGGCGAAAACATGTCAAAATGTCCCGAGGGCGCCTCGCCCGGGTAATTGTATTCCAGCGAGTCGACGGCTCCTTGGTTCGTCACCCTCCGTGGCTCCAGACTGTGGGAATCGGAGCCGCTGGAGGACGGCAGGCCGTGGAAGGAGGCGGCTCGGTTAGGGCTCTGGTCCAGCGGCAGGCATGGGGCCGGCACGGCGTGGCTGGAGGCACCTGAACTGTGGAAGTCCGGGAGGTTCCCCGGTCGCTGCGGGCCGAAGCTCTCAGGCCCCTGGCTCTCCGCCATGTGCTCATAGCCCTCGGCGAAGGGCGGCTGGCTGCCCAGGCCTCCGGCTGCGCCGCCGTAGCCGAGCAGGCGACCCCCGTGCAGGCACGAGGCCCCGGGGTCCGGGCCACCGAAGTTGCCCCCAAAGTGGGGGTGATGCTGGTGGGGATGATGACTTCCCGGGTGGCCGTGGTGAGGCTGCTGGCCGCCAAAGAAGCCGTGCACAGGCTGCGCTTGCAGCCCCCCTGCGTGCAACTCCGAGTGGCCGCGCGCGTGGAAGCCGTAGGGCTCCATGTTCATGCCCAAGATCGGGGGTTCGCCCAGCGCGCTCATAGCAGGATCCACAGGGCCAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCTTAAAGTGGGTGTTCATGCTCAGTCCGGTCTCGTTAAAGTTCCTCTCGCCCTGGCCAGCGTTCCTGCTGTTGACCTGGGGCTCGAATTGGTCCAGCCCAAACATACTTGGCGGGGGGCAGAGGGGGATCAATAGGGCATGACAGCCGGCTCTCCGCGGCGCGCCTCCGGCCAGCTACTCGTTCCAGCCCAGGATTGGGCGCTCCGGGACGCTCAGCACCGCGGGGGCTCAGCGCGCACCTCCACCCCGCCTGATGTGAGGGACGGGGGGCGGGGTATTAGCTCCTCTCCTGAAGCTCCGATTCTGCCCGGGGAGGGCCTCTCACATCTTGCGAGGCCGCGGGGCCTCTAGGAGCCGTGTTGGGGGGCCCATGCCCCGGGCGGTTGTCACAGCCGCGGGTGGGTCTGCGGGGAGGGGACGAAGCCGCGGATGAACGGAGACAAAAAGTTAAGTGGGGGGAATGGGGAGGGAAGGGGGTTGGGAGAGCAGAGCGATCACCTTCTCAAGTCCGATTGGGTCTGCTGGGGAGCCCTCAGGACGCCGCCCGCAGC
|
benign
| 324,226 |
Regarding the variant found on chromosome 22 at position 27798945 in gene MN1 (MN1 proto-oncogene, transcriptional regulator): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
AGGTCAATGGTGCTCATGGCGCTCTTGACCGCCTCGGAGCAGCAGCTGCCCAGCTCGCTGTCGCCATTCTGCGCCCCTGAGGCCCCGACGGCGCACTCACCCTTCTTGCCACCCTTCAGCCCCAGAGGCTGGTCCTCGGAGATGCTGAACTGCTGCCTCTGTAGCTGGATCTGCGCCTGAAGGATCTCCAGGGGGTGGATCTCGTCGGGTGGCGGGGCGCCGCTGCTGCTCGTCGGGGTGCGGACCTGCTCCAGGCCCGGAGTGCCCGGATGGCCCGGGCCCCCACCGCCGCCGTAGCTGTCAGGGGTCGAGGTAGAGTTAGACATGATGCCCAGGCCGAGGGCGGGCGGGGGCGCCTTCGGTCCGTGTTCCCCGGCGCCTACCCCACGGGGAGGGAGTTTGGGCGAGCCGGTCACCAGGGGACTCCTGCTCGCTTTAACTAGTGCCTGGGGGTTGTCAGAGCTGGACGACACCTCGTCCTCATTGGCGTAGCTCGTGCTCACCTCGTCCGAGGCGAACTCACCCACGTTTGGCGAACTACTGTCCGACTTGGCCCCGCCGTCCAGGGACCCAATGAGGTCCGGCTGATCCCCCAGGAGCAACTCAGCCCCCTTCCCCCAGGATGGCGACGTGAGCGCCTTTTCGTGGGGCGTCGGTGCCCCGCGCGTCTCGCCTGCGGAGCTTCCCCCGACGGCTGCGCCTGACGCTTGCTGCTGCCCTGGGCTCACCCCAGGTGCGCCCCCGCTGTCCGGAGCCGCCGAGTACTTGTCAAAGAAGGTGCCAGGGCTCACGTGACCACTGTCCCTTTTTCTGCGACCCCGTCCCCGGCCGCCGCCCCCGGAGACCGGCTTGCCGTCATTCCCCGACGTGGATTCCAGGGTGTAGTTGGGGGAGAGGCTGGTGCCGTCCCCCTGGGCTGGAGGGTTGGGCGGCCCCGAGGCTTTGGAGCCGCTGCTACTGGTCCCGGACGGGCCTCCGGGTCCTGGGGCCCCAGGAGCAGTCCCTCCTGGGAAGTAATCCGAGCCCGGGTTGCCGGCCACTGCCGCGCCGTCGGTCTCGTTCTGGCTCAGTTTCCTCTTGCCCTCTGGCGGGTTCTTCTTGTTGAAGGTCACGTTGAGGTTGGGGGCCCCGAGGCTGGCGATCATGTTCTGGCAAGCGGTGGAGAGCGCAGCCAGGCAGCTCTGGCCGAACAGGTTGTCCTTGGAGCTGGGCTTGTTGAAGGAGCCCAGCGAGAGCGCGCCCAATTTACTGGCCGAGGTGCGCTGGCTGGGCTGGAAATCAGGCTGCGGCGGGTAGGCACCCCCGCCACCGCCGCCACCAGAGCTGCCACCGCCCCCTCCCGCGCTGGGGGGCGAGTTCACGCCTGGACCGCTGTGCGGCGTGGACTGCCGGCCGGCTGCACCAAACGGAAAGCCCGGCTGGCCCCCGAGCGCAGACGTAGCAAAGTCCGGCGGCGGGGGCCGGCGCTCCGAAGCAGCGCTGGGGAGCCCCACGCCCGCCCCGGGCGACTGCAGCTGACCCAGGCCTCCCAGACTGCCCCCGAACTGCAGGCCCGGTGAAGGCAGCGCGGGCACGTGGCCCTCTCCGGGCATCCTCATCGGCTCCTGCAGAGGGCCCCGGAACAGCACCCCCGAGCCACCAGGCGGAGGAGGGGGCGCCAGGCTGGGGTCGTGCGGGCCACAGTCAGCGGGCAGACCCGAGCCGCCCATCCTACGGGGCAGCAGGTCTCCGGGCGGCGGATGCGGACCTGAGAACCACGCGCTCTCTTGCGCCAAGTGCGGCGCCTGCTGCTCGAAGGTGCCCAGACGCCCGGCGCCCGTGCTGCCGCCTTCGCGCTCAAAGTTCGGCTGGGCCAAGCCGCCCACCGGGCCGCCATGCACCAGGCCGCCCTGGCCCACGTCCCCGGGGTGGCCTAGCTGAGCCAGGTTGGGCTGGCGCAGCCGCTGCTGCTGATTCCGCGACGCCATCTGCTTAATCATGAGGGCCGCGTTTTGGCGCTGCTGCTGCTGCTGCTGTTGCTGTTGCTGTTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCAGGGACTGGTGGTCCGGGGCCGGATGCTGCAGGGGCGGCCCCGAAGGGAAGCTGTCGGGCACAGGCGGTGTGAACTCGCCGGGTAGGCCTGGGTAGGCGGAAGGGGAGAGGTGATTATCCAGAGCGCCGTTGTGCATGCTGCCGTTCCACGAAGCGCAGCGGTCCACTCCCGCGCTGCCCGGAAAGTCGAAGCGCGGCCTCTTGGCCACGTTCATGTAGGGGGGCGCGTCGAAATGCTGCAGCCGCTGGTTGGGCGCCTGCTGCGGAGGAGGATGCTGCATGCTGAAAACAGGCTCGGAATAAGGGTGCATGCTCCGGTTCTCCAGCCGGTGGATGGGATACTCGAATTGCGCGTGCTGGCTGGGCAGCATGGGGCCTCCGTCCTGCAGGCCGCCGCTGGGCGTGCCCGCCTCGCCCTGCTGGGGCCGAGGGAGCGCAGGCGGGCACGAATTTTGTCGGACTAGAAGCCCGGGTGGCGGCGGCGGCTGCTGCTGTGGCGGCTGCTGCGGGGGCTGCTGCTGAGGGGGTGGCGGGGCCTGCTGGGGAGGCTGCATTAACGGGTGCCTGGAGCCCACTGAGGGCTCCAGACCCACAGGCATCTTTCTGGCCCCACTGAACCTCTCAAAGAACACACCATGCTGCTGCTGCTGCTGCTGGGGCTGCTGCTGCTGCTGGGGCTGCTGCTGCGGTGGCTGGGCGTGCATTTTGGACAAGCCCACCATGCCCGCAGCTCTGGGCATGGCCGAGGCGCCCGGGAAAGCGCCCCCAGGAACCTGGCGACCCGCTGCATAATGAGGCAGCTGCCCTTCGGAGTCAGAGGGCGAAAACATGTCAAAATGTCCCGAGGGCGCCTCGCCCGGGTAATTGTATTCCAGCGAGTCGACGGCTCCTTGGTTCGTCACCCTCCGTGGCTCCAGACTGTGGGAATCGGAGCCGCTGGAGGACGGCAGGCCGTGGAAGGAGGCGGCTCGGTTAGGGCTCTGGTCCAGCGGCAGGCATGGGGCCGGCACGGCGTGGCTGGAGGCACCTGAACTGTGGAAGTCCGGGAGGTTCCCCGGTCGCTGCGGGCCGAAGCTCTCAGGCCCCTGGCTCTCCGCCATGTGCTCATAGCCCTCGGCGAAGGGCGGCTGGCTGCCCAGGCCTCCGGCTGCGCCGCCGTAGCCGAGCAGGCGACCCCCGTGCAGGCACGAGGCCCCGGGGTCCGGGCCACCGAAGTTGCCCCCAAAGTGGGGGTGATGCTGGTGGGGATGATGACTTCCCGGGTGGCCGTGGTGAGGCTGCTGGCCGCCAAAGAAGCCGTGCACAGGCTGCGCTTGCAGCCCCCCTGCGTGCAACTCCGAGTGGCCGCGCGCGTGGAAGCCGTAGGGCTCCATGTTCATGCCCAAGATCGGGGGTTCGCCCAGCGCGCTCATAGCAGGATCCACAGGGCCAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCTTAAAGTGGGTGTTCATGCTCAGTCCGGTCTCGTTAAAGTTCCTCTCGCCCTGGCCAGCGTTCCTGCTGTTGACCTGGGGCTCGAATTGGTCCAGCCCAAACATACTTGGCGGGGGGCAGAGGGGGATCAATAGGGCATGACAGCCGGCTCTCCGCGGCGCGCCTCCGGCCAGCTACTCGTTCCAGCCCAGGATTGGGCGCTCCGGGACGCTCAGCACCGCGGGGGCTCAGCGCGCACCTCCACCCCGCCTGATGTGAGGGACGGGGGGCGGGGTATTAGCTCCTCTCCTGAAGCTCCGATTCTGCCCGGGGAGGGCCTCTCACATCTTGCGAGGCCGCGGGGCCTCTAGGAGCCGTGTTGGGGGGCCCATGCCCCGGGCGGTTGTCACAGCCGCGGGTGGGTCTGCGGGGAGGGGACGAAGCCGCGGATGAACGGAGACAAAAAGTTAAGTGGGGGGAATGGGGAGGGAAGGGGGTTGGGAGAGCAGAGCGATCACCTTCTCAAGTCCGATTGGGTCTGCTGGGGAGCCCTCAGGACGCCGCCCGCAGCCTC
|
AGGTCAATGGTGCTCATGGCGCTCTTGACCGCCTCGGAGCAGCAGCTGCCCAGCTCGCTGTCGCCATTCTGCGCCCCTGAGGCCCCGACGGCGCACTCACCCTTCTTGCCACCCTTCAGCCCCAGAGGCTGGTCCTCGGAGATGCTGAACTGCTGCCTCTGTAGCTGGATCTGCGCCTGAAGGATCTCCAGGGGGTGGATCTCGTCGGGTGGCGGGGCGCCGCTGCTGCTCGTCGGGGTGCGGACCTGCTCCAGGCCCGGAGTGCCCGGATGGCCCGGGCCCCCACCGCCGCCGTAGCTGTCAGGGGTCGAGGTAGAGTTAGACATGATGCCCAGGCCGAGGGCGGGCGGGGGCGCCTTCGGTCCGTGTTCCCCGGCGCCTACCCCACGGGGAGGGAGTTTGGGCGAGCCGGTCACCAGGGGACTCCTGCTCGCTTTAACTAGTGCCTGGGGGTTGTCAGAGCTGGACGACACCTCGTCCTCATTGGCGTAGCTCGTGCTCACCTCGTCCGAGGCGAACTCACCCACGTTTGGCGAACTACTGTCCGACTTGGCCCCGCCGTCCAGGGACCCAATGAGGTCCGGCTGATCCCCCAGGAGCAACTCAGCCCCCTTCCCCCAGGATGGCGACGTGAGCGCCTTTTCGTGGGGCGTCGGTGCCCCGCGCGTCTCGCCTGCGGAGCTTCCCCCGACGGCTGCGCCTGACGCTTGCTGCTGCCCTGGGCTCACCCCAGGTGCGCCCCCGCTGTCCGGAGCCGCCGAGTACTTGTCAAAGAAGGTGCCAGGGCTCACGTGACCACTGTCCCTTTTTCTGCGACCCCGTCCCCGGCCGCCGCCCCCGGAGACCGGCTTGCCGTCATTCCCCGACGTGGATTCCAGGGTGTAGTTGGGGGAGAGGCTGGTGCCGTCCCCCTGGGCTGGAGGGTTGGGCGGCCCCGAGGCTTTGGAGCCGCTGCTACTGGTCCCGGACGGGCCTCCGGGTCCTGGGGCCCCAGGAGCAGTCCCTCCTGGGAAGTAATCCGAGCCCGGGTTGCCGGCCACTGCCGCGCCGTCGGTCTCGTTCTGGCTCAGTTTCCTCTTGCCCTCTGGCGGGTTCTTCTTGTTGAAGGTCACGTTGAGGTTGGGGGCCCCGAGGCTGGCGATCATGTTCTGGCAAGCGGTGGAGAGCGCAGCCAGGCAGCTCTGGCCGAACAGGTTGTCCTTGGAGCTGGGCTTGTTGAAGGAGCCCAGCGAGAGCGCGCCCAATTTACTGGCCGAGGTGCGCTGGCTGGGCTGGAAATCAGGCTGCGGCGGGTAGGCACCCCCGCCACCGCCGCCACCAGAGCTGCCACCGCCCCCTCCCGCGCTGGGGGGCGAGTTCACGCCTGGACCGCTGTGCGGCGTGGACTGCCGGCCGGCTGCACCAAACGGAAAGCCCGGCTGGCCCCCGAGCGCAGACGTAGCAAAGTCCGGCGGCGGGGGCCGGCGCTCCGAAGCAGCGCTGGGGAGCCCCACGCCCGCCCCGGGCGACTGCAGCTGACCCAGGCCTCCCAGACTGCCCCCGAACTGCAGGCCCGGTGAAGGCAGCGCGGGCACGTGGCCCTCTCCGGGCATCCTCATCGGCTCCTGCAGAGGGCCCCGGAACAGCACCCCCGAGCCACCAGGCGGAGGAGGGGGCGCCAGGCTGGGGTCGTGCGGGCCACAGTCAGCGGGCAGACCCGAGCCGCCCATCCTACGGGGCAGCAGGTCTCCGGGCGGCGGATGCGGACCTGAGAACCACGCGCTCTCTTGCGCCAAGTGCGGCGCCTGCTGCTCGAAGGTGCCCAGACGCCCGGCGCCCGTGCTGCCGCCTTCGCGCTCAAAGTTCGGCTGGGCCAAGCCGCCCACCGGGCCGCCATGCACCAGGCCGCCCTGGCCCACGTCCCCGGGGTGGCCTAGCTGAGCCAGGTTGGGCTGGCGCAGCCGCTGCTGCTGATTCCGCGACGCCATCTGCTTAATCATGAGGGCCGCGTTTTGGCGCTGCTGCTGCTGCTGCTGTTGCTGTTGCTGTTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCAGGGACTGGTGGTCCGGGGCCGGATGCTGCAGGGGCGGCCCCGAAGGGAAGCTGTCGGGCACAGGCGGTGTGAACTCGCCGGGTAGGCCTGGGTAGGCGGAAGGGGAGAGGTGATTATCCAGAGCGCCGTTGTGCATGCTGCCGTTCCACGAAGCGCAGCGGTCCACTCCCGCGCTGCCCGGAAAGTCGAAGCGCGGCCTCTTGGCCACGTTCATGTAGGGGGGCGCGTCGAAATGCTGCAGCCGCTGGTTGGGCGCCTGCTGCGGAGGAGGATGCTGCATGCTGAAAACAGGCTCGGAATAAGGGTGCATGCTCCGGTTCTCCAGCCGGTGGATGGGATACTCGAATTGCGCGTGCTGGCTGGGCAGCATGGGGCCTCCGTCCTGCAGGCCGCCGCTGGGCGTGCCCGCCTCGCCCTGCTGGGGCCGAGGGAGCGCAGGCGGGCACGAATTTTGTCGGACTAGAAGCCCGGGTGGCGGCGGCGGCTGCTGCTGTGGCGGCTGCTGCGGGGGCTGCTGCTGAGGGGGTGGCGGGGCCTGCTGGGGAGGCTGCATTAACGGGTGCCTGGAGCCCACTGAGGGCTCCAGACCCACAGGCATCTTTCTGGCCCCACTGAACCTCTCAAAGAACACACCATGCTGCTGCTGCTGCTGCTGGGGCTGCTGCTGCTGCTGGGGCTGCTGCTGCGGTGGCTGGGCGTGCATTTTGGACAAGCCCACCATGCCCGCAGCTCTGGGCATGGCCGAGGCGCCCGGGAAAGCGCCCCCAGGAACCTGGCGACCCGCTGCATAATGAGGCAGCTGCCCTTCGGAGTCAGAGGGCGAAAACATGTCAAAATGTCCCGAGGGCGCCTCGCCCGGGTAATTGTATTCCAGCGAGTCGACGGCTCCTTGGTTCGTCACCCTCCGTGGCTCCAGACTGTGGGAATCGGAGCCGCTGGAGGACGGCAGGCCGTGGAAGGAGGCGGCTCGGTTAGGGCTCTGGTCCAGCGGCAGGCATGGGGCCGGCACGGCGTGGCTGGAGGCACCTGAACTGTGGAAGTCCGGGAGGTTCCCCGGTCGCTGCGGGCCGAAGCTCTCAGGCCCCTGGCTCTCCGCCATGTGCTCATAGCCCTCGGCGAAGGGCGGCTGGCTGCCCAGGCCTCCGGCTGCGCCGCCGTAGCCGAGCAGGCGACCCCCGTGCAGGCACGAGGCCCCGGGGTCCGGGCCACCGAAGTTGCCCCCAAAGTGGGGGTGATGCTGGTGGGGATGATGACTTCCCGGGTGGCCGTGGTGAGGCTGCTGGCCGCCAAAGAAGCCGTGCACAGGCTGCGCTTGCAGCCCCCCTGCGTGCAACTCCGAGTGGCCGCGCGCGTGGAAGCCGTAGGGCTCCATGTTCATGCCCAAGATCGGGGGTTCGCCCAGCGCGCTCATAGCAGGATCCACAGGGCCAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCTTAAAGTGGGTGTTCATGCTCAGTCCGGTCTCGTTAAAGTTCCTCTCGCCCTGGCCAGCGTTCCTGCTGTTGACCTGGGGCTCGAATTGGTCCAGCCCAAACATACTTGGCGGGGGGCAGAGGGGGATCAATAGGGCATGACAGCCGGCTCTCCGCGGCGCGCCTCCGGCCAGCTACTCGTTCCAGCCCAGGATTGGGCGCTCCGGGACGCTCAGCACCGCGGGGGCTCAGCGCGCACCTCCACCCCGCCTGATGTGAGGGACGGGGGGCGGGGTATTAGCTCCTCTCCTGAAGCTCCGATTCTGCCCGGGGAGGGCCTCTCACATCTTGCGAGGCCGCGGGGCCTCTAGGAGCCGTGTTGGGGGGCCCATGCCCCGGGCGGTTGTCACAGCCGCGGGTGGGTCTGCGGGGAGGGGACGAAGCCGCGGATGAACGGAGACAAAAAGTTAAGTGGGGGGAATGGGGAGGGAAGGGGGTTGGGAGAGCAGAGCGATCACCTTCTCAAGTCCGATTGGGTCTGCTGGGGAGCCCTCAGGACGCCGCCCGC
|
benign
| 324,227 |
Does the variant impacting MN1 (MN1 proto-oncogene, transcriptional regulator) on chromosome 22, position 27799618, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
CTGCGGAGCTTCCCCCGACGGCTGCGCCTGACGCTTGCTGCTGCCCTGGGCTCACCCCAGGTGCGCCCCCGCTGTCCGGAGCCGCCGAGTACTTGTCAAAGAAGGTGCCAGGGCTCACGTGACCACTGTCCCTTTTTCTGCGACCCCGTCCCCGGCCGCCGCCCCCGGAGACCGGCTTGCCGTCATTCCCCGACGTGGATTCCAGGGTGTAGTTGGGGGAGAGGCTGGTGCCGTCCCCCTGGGCTGGAGGGTTGGGCGGCCCCGAGGCTTTGGAGCCGCTGCTACTGGTCCCGGACGGGCCTCCGGGTCCTGGGGCCCCAGGAGCAGTCCCTCCTGGGAAGTAATCCGAGCCCGGGTTGCCGGCCACTGCCGCGCCGTCGGTCTCGTTCTGGCTCAGTTTCCTCTTGCCCTCTGGCGGGTTCTTCTTGTTGAAGGTCACGTTGAGGTTGGGGGCCCCGAGGCTGGCGATCATGTTCTGGCAAGCGGTGGAGAGCGCAGCCAGGCAGCTCTGGCCGAACAGGTTGTCCTTGGAGCTGGGCTTGTTGAAGGAGCCCAGCGAGAGCGCGCCCAATTTACTGGCCGAGGTGCGCTGGCTGGGCTGGAAATCAGGCTGCGGCGGGTAGGCACCCCCGCCACCGCCGCCACCAGAGCTGCCACCGCCCCCTCCCGCGCTGGGGGGCGAGTTCACGCCTGGACCGCTGTGCGGCGTGGACTGCCGGCCGGCTGCACCAAACGGAAAGCCCGGCTGGCCCCCGAGCGCAGACGTAGCAAAGTCCGGCGGCGGGGGCCGGCGCTCCGAAGCAGCGCTGGGGAGCCCCACGCCCGCCCCGGGCGACTGCAGCTGACCCAGGCCTCCCAGACTGCCCCCGAACTGCAGGCCCGGTGAAGGCAGCGCGGGCACGTGGCCCTCTCCGGGCATCCTCATCGGCTCCTGCAGAGGGCCCCGGAACAGCACCCCCGAGCCACCAGGCGGAGGAGGGGGCGCCAGGCTGGGGTCGTGCGGGCCACAGTCAGCGGGCAGACCCGAGCCGCCCATCCTACGGGGCAGCAGGTCTCCGGGCGGCGGATGCGGACCTGAGAACCACGCGCTCTCTTGCGCCAAGTGCGGCGCCTGCTGCTCGAAGGTGCCCAGACGCCCGGCGCCCGTGCTGCCGCCTTCGCGCTCAAAGTTCGGCTGGGCCAAGCCGCCCACCGGGCCGCCATGCACCAGGCCGCCCTGGCCCACGTCCCCGGGGTGGCCTAGCTGAGCCAGGTTGGGCTGGCGCAGCCGCTGCTGCTGATTCCGCGACGCCATCTGCTTAATCATGAGGGCCGCGTTTTGGCGCTGCTGCTGCTGCTGCTGTTGCTGTTGCTGTTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCAGGGACTGGTGGTCCGGGGCCGGATGCTGCAGGGGCGGCCCCGAAGGGAAGCTGTCGGGCACAGGCGGTGTGAACTCGCCGGGTAGGCCTGGGTAGGCGGAAGGGGAGAGGTGATTATCCAGAGCGCCGTTGTGCATGCTGCCGTTCCACGAAGCGCAGCGGTCCACTCCCGCGCTGCCCGGAAAGTCGAAGCGCGGCCTCTTGGCCACGTTCATGTAGGGGGGCGCGTCGAAATGCTGCAGCCGCTGGTTGGGCGCCTGCTGCGGAGGAGGATGCTGCATGCTGAAAACAGGCTCGGAATAAGGGTGCATGCTCCGGTTCTCCAGCCGGTGGATGGGATACTCGAATTGCGCGTGCTGGCTGGGCAGCATGGGGCCTCCGTCCTGCAGGCCGCCGCTGGGCGTGCCCGCCTCGCCCTGCTGGGGCCGAGGGAGCGCAGGCGGGCACGAATTTTGTCGGACTAGAAGCCCGGGTGGCGGCGGCGGCTGCTGCTGTGGCGGCTGCTGCGGGGGCTGCTGCTGAGGGGGTGGCGGGGCCTGCTGGGGAGGCTGCATTAACGGGTGCCTGGAGCCCACTGAGGGCTCCAGACCCACAGGCATCTTTCTGGCCCCACTGAACCTCTCAAAGAACACACCATGCTGCTGCTGCTGCTGCTGGGGCTGCTGCTGCTGCTGGGGCTGCTGCTGCGGTGGCTGGGCGTGCATTTTGGACAAGCCCACCATGCCCGCAGCTCTGGGCATGGCCGAGGCGCCCGGGAAAGCGCCCCCAGGAACCTGGCGACCCGCTGCATAATGAGGCAGCTGCCCTTCGGAGTCAGAGGGCGAAAACATGTCAAAATGTCCCGAGGGCGCCTCGCCCGGGTAATTGTATTCCAGCGAGTCGACGGCTCCTTGGTTCGTCACCCTCCGTGGCTCCAGACTGTGGGAATCGGAGCCGCTGGAGGACGGCAGGCCGTGGAAGGAGGCGGCTCGGTTAGGGCTCTGGTCCAGCGGCAGGCATGGGGCCGGCACGGCGTGGCTGGAGGCACCTGAACTGTGGAAGTCCGGGAGGTTCCCCGGTCGCTGCGGGCCGAAGCTCTCAGGCCCCTGGCTCTCCGCCATGTGCTCATAGCCCTCGGCGAAGGGCGGCTGGCTGCCCAGGCCTCCGGCTGCGCCGCCGTAGCCGAGCAGGCGACCCCCGTGCAGGCACGAGGCCCCGGGGTCCGGGCCACCGAAGTTGCCCCCAAAGTGGGGGTGATGCTGGTGGGGATGATGACTTCCCGGGTGGCCGTGGTGAGGCTGCTGGCCGCCAAAGAAGCCGTGCACAGGCTGCGCTTGCAGCCCCCCTGCGTGCAACTCCGAGTGGCCGCGCGCGTGGAAGCCGTAGGGCTCCATGTTCATGCCCAAGATCGGGGGTTCGCCCAGCGCGCTCATAGCAGGATCCACAGGGCCAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCTTAAAGTGGGTGTTCATGCTCAGTCCGGTCTCGTTAAAGTTCCTCTCGCCCTGGCCAGCGTTCCTGCTGTTGACCTGGGGCTCGAATTGGTCCAGCCCAAACATACTTGGCGGGGGGCAGAGGGGGATCAATAGGGCATGACAGCCGGCTCTCCGCGGCGCGCCTCCGGCCAGCTACTCGTTCCAGCCCAGGATTGGGCGCTCCGGGACGCTCAGCACCGCGGGGGCTCAGCGCGCACCTCCACCCCGCCTGATGTGAGGGACGGGGGGCGGGGTATTAGCTCCTCTCCTGAAGCTCCGATTCTGCCCGGGGAGGGCCTCTCACATCTTGCGAGGCCGCGGGGCCTCTAGGAGCCGTGTTGGGGGGCCCATGCCCCGGGCGGTTGTCACAGCCGCGGGTGGGTCTGCGGGGAGGGGACGAAGCCGCGGATGAACGGAGACAAAAAGTTAAGTGGGGGGAATGGGGAGGGAAGGGGGTTGGGAGAGCAGAGCGATCACCTTCTCAAGTCCGATTGGGTCTGCTGGGGAGCCCTCAGGACGCCGCCCGCAGCCTCCCGGAGTCCGTGGCAGAGCTGCTAAGGGCAGGGGAGGGAGACCCTTCAAAGCCGCGGCTGGCGCCGGGCACCGACAGAGCGGTCCCTCCCCCCGCCCCCCGGAGTCCCCGCGCCCCGCAGCCCGAGCCTCCACCGAGCACGATCCGCTCGCACAATCCCCGTAGGCTCCGGGCGAGCGGCTGCTGCTTCTTCAGCGGGTCGGAGGACTGGAGGCTCCGCTCGGCATCGCCGGTGCCGGCCCCCGAGCCGAGGACGCAGAGGGGCTGCGAGGCGGCAGGCGCCGGGGGCTGGAGCCGAGGGTCGGGGAAAGGCGCGGCTCCTCTGCTCGGCAGCGGGTGCGCTGCGTTCGGCGCGCAGCTTCGCGGCCACGTCCGCCGCCTGCCGCTTCTGTTCTCCGCCGTTGGGTGTCTGAGTTCGCCGGAGTCTCCGCGCACCGTTGCAGGCGCGGGAGGGCAGCGAGACGAGGGGTTGGGTCGCTCCAAGGCTCCGGTTCCCTGCCTCCGCGCTGAGGTGCTTCGCGAGTCCCTCTCGGACCTGAGGGAGGGGGGCGTACGCGGGTCGGGGGGCCACGCCGGGCGAGCAGGCTAAGGCGTTCCCGCTGCGCTCTCAGAGCCCGGAATGGGGGGAGGGGGGCGCGGGGGCAGCTCTGGGGGGTCTGCGCACCCCTCTCCCG
|
CTGCGGAGCTTCCCCCGACGGCTGCGCCTGACGCTTGCTGCTGCCCTGGGCTCACCCCAGGTGCGCCCCCGCTGTCCGGAGCCGCCGAGTACTTGTCAAAGAAGGTGCCAGGGCTCACGTGACCACTGTCCCTTTTTCTGCGACCCCGTCCCCGGCCGCCGCCCCCGGAGACCGGCTTGCCGTCATTCCCCGACGTGGATTCCAGGGTGTAGTTGGGGGAGAGGCTGGTGCCGTCCCCCTGGGCTGGAGGGTTGGGCGGCCCCGAGGCTTTGGAGCCGCTGCTACTGGTCCCGGACGGGCCTCCGGGTCCTGGGGCCCCAGGAGCAGTCCCTCCTGGGAAGTAATCCGAGCCCGGGTTGCCGGCCACTGCCGCGCCGTCGGTCTCGTTCTGGCTCAGTTTCCTCTTGCCCTCTGGCGGGTTCTTCTTGTTGAAGGTCACGTTGAGGTTGGGGGCCCCGAGGCTGGCGATCATGTTCTGGCAAGCGGTGGAGAGCGCAGCCAGGCAGCTCTGGCCGAACAGGTTGTCCTTGGAGCTGGGCTTGTTGAAGGAGCCCAGCGAGAGCGCGCCCAATTTACTGGCCGAGGTGCGCTGGCTGGGCTGGAAATCAGGCTGCGGCGGGTAGGCACCCCCGCCACCGCCGCCACCAGAGCTGCCACCGCCCCCTCCCGCGCTGGGGGGCGAGTTCACGCCTGGACCGCTGTGCGGCGTGGACTGCCGGCCGGCTGCACCAAACGGAAAGCCCGGCTGGCCCCCGAGCGCAGACGTAGCAAAGTCCGGCGGCGGGGGCCGGCGCTCCGAAGCAGCGCTGGGGAGCCCCACGCCCGCCCCGGGCGACTGCAGCTGACCCAGGCCTCCCAGACTGCCCCCGAACTGCAGGCCCGGTGAAGGCAGCGCGGGCACGTGGCCCTCTCCGGGCATCCTCATCGGCTCCTGCAGAGGGCCCCGGAACAGCACCCCCGAGCCACCAGGCGGAGGAGGGGGCGCCAGGCTGGGGTCGTGCGGGCCACAGTCAGCGGGCAGACCCGAGCCGCCCATCCTACGGGGCAGCAGGTCTCCGGGCGGCGGATGCGGACCTGAGAACCACGCGCTCTCTTGCGCCAAGTGCGGCGCCTGCTGCTCGAAGGTGCCCAGACGCCCGGCGCCCGTGCTGCCGCCTTCGCGCTCAAAGTTCGGCTGGGCCAAGCCGCCCACCGGGCCGCCATGCACCAGGCCGCCCTGGCCCACGTCCCCGGGGTGGCCTAGCTGAGCCAGGTTGGGCTGGCGCAGCCGCTGCTGCTGATTCCGCGACGCCATCTGCTTAATCATGAGGGCCGCGTTTTGGCGCTGCTGCTGCTGCTGCTGTTGCTGTTGCTGTTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCAGGGACTGGTGGTCCGGGGCCGGATGCTGCAGGGGCGGCCCCGAAGGGAAGCTGTCGGGCACAGGCGGTGTGAACTCGCCGGGTAGGCCTGGGTAGGCGGAAGGGGAGAGGTGATTATCCAGAGCGCCGTTGTGCATGCTGCCGTTCCACGAAGCGCAGCGGTCCACTCCCGCGCTGCCCGGAAAGTCGAAGCGCGGCCTCTTGGCCACGTTCATGTAGGGGGGCGCGTCGAAATGCTGCAGCCGCTGGTTGGGCGCCTGCTGCGGAGGAGGATGCTGCATGCTGAAAACAGGCTCGGAATAAGGGTGCATGCTCCGGTTCTCCAGCCGGTGGATGGGATACTCGAATTGCGCGTGCTGGCTGGGCAGCATGGGGCCTCCGTCCTGCAGGCCGCCGCTGGGCGTGCCCGCCTCGCCCTGCTGGGGCCGAGGGAGCGCAGGCGGGCACGAATTTTGTCGGACTAGAAGCCCGGGTGGCGGCGGCGGCTGCTGCTGTGGCGGCTGCTGCGGGGGCTGCTGCTGAGGGGGTGGCGGGGCCTGCTGGGGAGGCTGCATTAACGGGTGCCTGGAGCCCACTGAGGGCTCCAGACCCACAGGCATCTTTCTGGCCCCACTGAACCTCTCAAAGAACACACCATGCTGCTGCTGCTGCTGCTGGGGCTGCTGCTGCTGCTGGGGCTGCTGCTGCTGCTGGGGCTGCTGCTGCGGTGGCTGGGCGTGCATTTTGGACAAGCCCACCATGCCCGCAGCTCTGGGCATGGCCGAGGCGCCCGGGAAAGCGCCCCCAGGAACCTGGCGACCCGCTGCATAATGAGGCAGCTGCCCTTCGGAGTCAGAGGGCGAAAACATGTCAAAATGTCCCGAGGGCGCCTCGCCCGGGTAATTGTATTCCAGCGAGTCGACGGCTCCTTGGTTCGTCACCCTCCGTGGCTCCAGACTGTGGGAATCGGAGCCGCTGGAGGACGGCAGGCCGTGGAAGGAGGCGGCTCGGTTAGGGCTCTGGTCCAGCGGCAGGCATGGGGCCGGCACGGCGTGGCTGGAGGCACCTGAACTGTGGAAGTCCGGGAGGTTCCCCGGTCGCTGCGGGCCGAAGCTCTCAGGCCCCTGGCTCTCCGCCATGTGCTCATAGCCCTCGGCGAAGGGCGGCTGGCTGCCCAGGCCTCCGGCTGCGCCGCCGTAGCCGAGCAGGCGACCCCCGTGCAGGCACGAGGCCCCGGGGTCCGGGCCACCGAAGTTGCCCCCAAAGTGGGGGTGATGCTGGTGGGGATGATGACTTCCCGGGTGGCCGTGGTGAGGCTGCTGGCCGCCAAAGAAGCCGTGCACAGGCTGCGCTTGCAGCCCCCCTGCGTGCAACTCCGAGTGGCCGCGCGCGTGGAAGCCGTAGGGCTCCATGTTCATGCCCAAGATCGGGGGTTCGCCCAGCGCGCTCATAGCAGGATCCACAGGGCCAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCTTAAAGTGGGTGTTCATGCTCAGTCCGGTCTCGTTAAAGTTCCTCTCGCCCTGGCCAGCGTTCCTGCTGTTGACCTGGGGCTCGAATTGGTCCAGCCCAAACATACTTGGCGGGGGGCAGAGGGGGATCAATAGGGCATGACAGCCGGCTCTCCGCGGCGCGCCTCCGGCCAGCTACTCGTTCCAGCCCAGGATTGGGCGCTCCGGGACGCTCAGCACCGCGGGGGCTCAGCGCGCACCTCCACCCCGCCTGATGTGAGGGACGGGGGGCGGGGTATTAGCTCCTCTCCTGAAGCTCCGATTCTGCCCGGGGAGGGCCTCTCACATCTTGCGAGGCCGCGGGGCCTCTAGGAGCCGTGTTGGGGGGCCCATGCCCCGGGCGGTTGTCACAGCCGCGGGTGGGTCTGCGGGGAGGGGACGAAGCCGCGGATGAACGGAGACAAAAAGTTAAGTGGGGGGAATGGGGAGGGAAGGGGGTTGGGAGAGCAGAGCGATCACCTTCTCAAGTCCGATTGGGTCTGCTGGGGAGCCCTCAGGACGCCGCCCGCAGCCTCCCGGAGTCCGTGGCAGAGCTGCTAAGGGCAGGGGAGGGAGACCCTTCAAAGCCGCGGCTGGCGCCGGGCACCGACAGAGCGGTCCCTCCCCCCGCCCCCCGGAGTCCCCGCGCCCCGCAGCCCGAGCCTCCACCGAGCACGATCCGCTCGCACAATCCCCGTAGGCTCCGGGCGAGCGGCTGCTGCTTCTTCAGCGGGTCGGAGGACTGGAGGCTCCGCTCGGCATCGCCGGTGCCGGCCCCCGAGCCGAGGACGCAGAGGGGCTGCGAGGCGGCAGGCGCCGGGGGCTGGAGCCGAGGGTCGGGGAAAGGCGCGGCTCCTCTGCTCGGCAGCGGGTGCGCTGCGTTCGGCGCGCAGCTTCGCGGCCACGTCCGCCGCCTGCCGCTTCTGTTCTCCGCCGTTGGGTGTCTGAGTTCGCCGGAGTCTCCGCGCACCGTTGCAGGCGCGGGAGGGCAGCGAGACGAGGGGTTGGGTCGCTCCAAGGCTCCGGTTCCCTGCCTCCGCGCTGAGGTGCTTCGCGAGTCCCTCTCGGACCTGAGGGAGGGGGGCGTACGCGGGTCGGGGGGCCACGCCGGGCGAGCAGGCTAAGGCGTTCCCGCTGCGCTCTCAGAGCCCGGAATGGGGGGAGGGGGGCGCGGGGGCAGCTCTGGGGGGT
|
benign
| 324,231 |
A genetic variant on chromosome 22, position 28687970, affects the gene CHEK2 (checkpoint kinase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
GGATTGCCTGAGGTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCT
|
GGATTGCCTGAGGTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTGTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGC
|
pathogenic
| 324,267 |
Classify the chromosome 22 variant at position 28687981 affecting gene CHEK2 (checkpoint kinase 2) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
GGTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCAC
|
GGTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACN
|
pathogenic
| 324,271 |
The mutation in gene CHEK2 (checkpoint kinase 2) at chromosome 22, position 28687982—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
GTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACA
|
GTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAN
|
pathogenic
| 324,272 |
Mutation at chromosome 22, position 28687982, within CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Familial_cancer_of_breast']
|
GTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACA
|
GTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACANNNNNNNNNNNNN
|
pathogenic
| 324,273 |
Clinical significance of chromosome 22, position 28687987, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
GGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGG
|
GGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGNNNNNNNNNN
|
pathogenic
| 324,276 |
Clinical significance of chromosome 22, position 28687999, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
AGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAAT
|
AGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGCTAAAACCCATCTAATTGGCAATCTCAGCCTCATTCCTTTAAACATGCAAACTACCTAAATTCCCATCAAACCCCCTACACCAGGCCAGCCAAGTCTCAAAATGCTTATATACCCTTTAATAGAAATTTCCAACCACCACCCCCATTTCCTAAGGAAATGGCTGTGTGCCCTTGACCCTGCCCTGACAGAATCGCCAGTGGCCTTTGAACCATGGCACTCAATTCATGGCATGGCCAGCGAGCTACAAAGTGTCCTAGCATCAACCAAGCAAAGTTATAAAAGCAGATTTAGTGGACAATAAGGAACATTAGTTTTAGAGTCAAAAAGACCTGGGTTGGGTCCCAGCTCTGCCATTTACCAGCTGTGCAACATCGGAAAAGTTACCTTCCTCTTCTAACTTTGGTTTCCTCACCTGTGACATGACAGTGGCTAGAGGACCTCACTCATAGAATCACTGTGATGACAAGAGCAGCCAAGGGTAAGTCTTTGCACAGGGCCTCCCTGGTCATTATTGGGTCAACAAGACATAACCACATGCCTTATCTCCACTTCCAAAACCCAAACAGCTCTCAAAAACAAGTCATTGTAGCTCATTTGGAAGAAAAGACTGATATGAACCAATATGCAACTACCTATAATCTTTCTCTATCCCTCTTACTGTGAATATTTGCTGTGGAAATATTAACATGTTTGGTCTCCACTGGGGTAGGACTCCACATGTGTAGGACTCCACTGGGGTGCTACACATACACATAGTAGATATGCCTTACCACCTTCCTAAAATTGGATAATTAAATTTCACAACTTATCTAGCCCAAAGGTTTCAGAGACGGTAGACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAA
|
benign
| 324,283 |
Variant in gene CHEK2 (checkpoint kinase 2), located at chromosome 22 position 28689154: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Familial_cancer_of_breast']
|
GACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTC
|
GACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGT
|
pathogenic
| 324,295 |
The mutation in gene CHEK2 (checkpoint kinase 2) at chromosome 22, position 28689173—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
GCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCC
|
GCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATG
|
pathogenic
| 324,301 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome 22, position 28689175—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
GAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTG
|
GAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTGN
|
pathogenic
| 324,302 |
The genetic variant at chromosome 22, position 28689175, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
GAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTG
|
GAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTGNNNN
|
pathogenic
| 324,303 |
For chromosome 22, position 28689180, gene CHEK2 (checkpoint kinase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Incidental_Discovery']
|
TGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTGGAATC
|
TGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTGGAATCNNNNN
|
pathogenic
| 324,308 |
Evaluate if the mutation on chromosome 22 at position 28689184 in CHEK2 (checkpoint kinase 2) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
AATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTGGAATCCCAG
|
AATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTGGAATCCCAGN
|
pathogenic
| 324,310 |
Does the genetic variant at chromosome 22, position 28689187, impacting gene CHEK2 (checkpoint kinase 2), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
ATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTGGAATCCCAGCAC
|
ATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTGGAATCCCAGCACN
|
pathogenic
| 324,312 |
Does the variant on chromosome 22 at location 28689195 affecting gene CHEK2 (checkpoint kinase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Familial_cancer_of_breast']
|
GCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAG
|
GCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGGTCAGAAGTTCAAGACCAGGCTGGCCAACATGGCAAAACCCTGTCTCTACAAAATATATAAAAATTAACAGGCATGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGCCTGCACCACTGCACTTCATTCAGGCTGGGCAACAGAGTGAGACTCCATCTCAAATAAATAAATAATAAAGCCATTCAACTAAAGAACCGATTATCAAGCAGAAGCACAAAGCCCAGGTTCCATCAGGTTTTTAATTGTACATCAGTGACTGTGAAAAAGCAATTATTCCCATAATTAAAATACAAACTATAAAAAAACAGACTCAAAGAAAAGAAAGATGACAGAGTGAAAGAAGGTACATTTCTTTCGTGTTCAAACCACGGAGTTCACAACACAGCAGCACACACAGCTGGGCGCTTTGTGGTCTCGGCACCCTCGGCTTCCCCTTCACGGGGCCGCTTTCGACTAGTAGAAGGCTGAAAATAAAGGAAAATGGAGAAATGTTCAAAAGAAAATCACTGGCTTCTTTAAGATTATCAAAGTTCCTCAATATGCTTCCAGTAAAGTGGGGGCATTTGATGTGAAATTCTAGAACCAAAAATTACTGGTTGTCATCATTGACAACTGAGTCCTCACCACAGCCCCCAACTCAGACATGCTTATCTAATAGATATTTCTCTCCCTTATGGCTTCTGACCTCTGAACGATGTATACTGAAAGCAAGTAGCATAACCAACTTCCTCTTGATCGTCCTCTTCTAAATATCAAGTTTAAAAGGACTATAATACCTCTCAGTTGAAGCCCCAAGTCTTGGTCTTTTGCGGGAAGACAACCTTTGTGCCTTAGTTGTTTTCCCATATATAAAATTGGGAGGAAGGCTGGGTGCGGTGACTCACAGCTGTAATCCCAGCACTTTGGAAAGCCGAGGTGGGCAGGTCGCTTCAGGTCAAAAGTTCGAGACAAGCCTGACCAACATGGCAAAACCCCATCTCACCTAAAAATTCAAAAATTAGCTGGGCACAGTGGCGGACACCTGTAATCCCAGATACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCGGCCTGAGTGACAAACCAAGACTCTGTCTCAAGAAAAAAAAAATTGGGGGGAGGAAACAGTGGGAAAAAGGACAGCTACCATTCAACAACAACAACAACAACAAAAAAGCAGGACTGGAATTAACTTATACTCACAAAGAACTTTAAAGAATAAAATTGTAATCAAGGAATCAACTACTGACCCAAATTTTAATTTGTTCAACAAATTTATATTTGAGCCTCTAATAGAGTCTTTCGAAATTGCCTTGCAGGTGACCTTTTGGATGACAATCCCTAGCTGTGCTTATCGGTCTATTATGTGTTAGATATTAAACATATCCTGCATTTTTAAATCTAAGGGTGCTGGAGCGAATCAAGTTAAAACAGAGTTTCTACTACATTATAACTGAAACAATGTTAAGCAATTGCTACTCAGGAAAATCTTGAATTTCATCATCTTTGCTTATCAGCTCCTTAAGCCCAGACTACATTTAGTGATCATCAGGAATACGAATACCTGGGCTAGAACCTGGGGTAGAGCTGTGGATTCATTTTCCTCAGACAGAAGATCTTGAAACTTCTCTTCATGTCTTCATCCTGTGAGGGAATTAAAAACATAAGTAGCTGTGTCTGAAGGATAATAAACTCCTAGAATGACAGGGCTAGCATGCCCCTGTGGAAAGAGGGAGGAAAAATGTCCGTCCAAGAATCATCCCCTTGATGAAGCTCCCACAGCGAAGGCATTATGTGTTGCCCGCCTCTACCTTCCCAGAGGAGTCTAATTAGCAGTCAATGCTCCATCAATCCTGGCTGACTCACATCCACATGCCTAAAAGCTCTCAGTGGGTCAATCACAGCCTCCAGCAGTCAAGAGTTTCTTAATTAGTATCCAAGATCCTGAGAAAGGTGGCAATCAGGAGGCCAGAGGCTGGGCCTGACTCCGTGCAGCTCCTCAAATCCTTCCCGGACCACTCTCCACCTGCTGCCCCTGCCATGAATGAGGCCAGTCACCCAGACTGTCCTAACAACCAGCCCAGCACCCTAGGAAAATTCACCCAGCAGATGCCATACAAATTTTCAGAAGTACTTAAGCCCACAGTATCCCAGAGCTCAGGTCTAATGAGAAAGGGAGACAATAAACAGAACCAAGTATTTTGTTTCTGCTGCAGGAGCGGGAGGTGAGGGGTTTCATGCTGCAGGAGCAGGAGATGAGGAGGGCACAGACAGTGTGTATGCGAGTAGCTCCCACCTCTCTGGATGCTCACTTCTGCAGGGTTCGAGGATTTGCATTAGGAAACCCTGAGAGGTGGTCTGGTGCAGCTCTCCCCATCTTCAGCAAGGTGAAAGGAACATCCATAACTAGGAATGTGGCCTTTGAGTGCTGGCCAGAAGCCCAGCTCAGCCACTCACAGGTGGCATGTGCAGAATACAGACCCAGAGTTATCTGATTCCAGTGCCTCATGTACTTTCCCACCCAACTCCAGCCCCTCCTCCCACTGAGCCAAGCATACCACAGTGGGGAAAGGGAGAGGATACAGTAAAGTCCTCCACCATTTGGCAATTTGATGGATATGGAAATTTTACAACACTAGGTTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGAATTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGGGACTTCGTCACTACAAAAAAAATTAAAAATTAGGCCAGGCACGGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGAATCGCCTGAGGTCGGAAGTTTGAGATCAGCCTGGCTAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATAAGCAGGGCATGGTAGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAAGAGGCGGAGGTTGCAGTAAGCCAGGATCACACCACTGCACTCCAGCCTGGGCAAAAGAGTACAACACTGTCTCCAAAAAAAAAAAAAAAAAAATTTAAATTAGCCAGACATGGTGGCATGCACCTGTAGTCTCAGCTACTTGGGAGGCTGGGGCAGGAGGATCACTTGAGCCTGAAAGTCATGGTGCAGTGATCATGCCACTGCACTCCAGCCTAGGTGAGAGAGCAAGACCCTGAGGAAGGAAGAAAGGAAAGAAGCAAGGAAGGAAAAAGGGGAGGGGGGACGAAAGAAGGGAGGGGAAAGGAATGGAGGAGAGGGGAGGGGGAAGGAAGGAGGAAGAAAGAAAGAAGGAAAGAAGGACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGCAGATCACTTGAGGTCACTCTGTTTTGAGTTTCTCAGTGTAGCTCCCCATTGCCATTTGACAGCAGCAAGCTCATCTGGATTCTACTCCGCACCCTCTCACGGCCTTACTTAGGATCTCAATTATCTTGCAGTGTCACTCTCAAAAGTCCATCTCTTGGCAGCCCTTCAGTGAAGCCAAACAGAGTGGTCACAAGCCTAATCAGGCCTGTATTTAAAACAAGTAATCAGGTCAGGCACAGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGN
|
pathogenic
| 324,314 |
Is the genetic variant on chromosome 22, position 28694030, gene CHEK2 (checkpoint kinase 2), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Familial_cancer_of_breast', 'Li-Fraumeni_syndrome_2']
|
CTTCATTCAATGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGA
|
CTTCATTCAATGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAN
|
pathogenic
| 324,332 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 28694037, gene CHEK2 (checkpoint kinase 2). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
|
CAATGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAA
|
CAATGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCA
|
pathogenic
| 324,336 |
A genetic variant at chromosome 22, position 28694040, affecting gene CHEK2 (checkpoint kinase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Familial_cancer_of_breast']
|
TGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACAC
|
TGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCAGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACN
|
pathogenic
| 324,339 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 28694041, gene CHEK2 (checkpoint kinase 2). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
GCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACT
|
GCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTN
|
pathogenic
| 324,340 |
The chromosome 22, position 28694049 genetic variant in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
CTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTT
|
CTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTNN
|
pathogenic
| 324,342 |
The genetic variant at chromosome 22, position 28694058, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome']
|
CTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAA
|
CTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAAN
|
pathogenic
| 324,347 |
Considering the genetic mutation at chromosome 22, position 28694077, impacting CHEK2 (checkpoint kinase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Familial_cancer_of_breast']
|
CTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCT
|
CTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTN
|
pathogenic
| 324,355 |
Determine if the mutation at chromosome 22, position 28694092 in gene CHEK2 (checkpoint kinase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
AGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATT
|
AGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGTCCCACTGTTTCAAATCTGTGTGGTCTATTAAATGCTAAATCATCTGACAGATTTCTTCTGGGGAGACTGTAGTTTCCAGGGCAACATCCAAACACATATATGTCTTTTTTTGTTTGTTTGTTTGTTTGTTTTAAGTTTTTGTTGTTCTCAACCTGAGCTGGCCTGAGCAAAACTGTTAGGTGTAGAGGATTGGAACAGAGAACAGGGACAGTCTTCCCAGAGTCCCAGAAGTACGGGTCGGAGGCTGGACTGCCCAAGGAGTTCCTGGACCAGTAATCCCCAGAGAAACAGCATTTAGCTCAAGTAACAGCCTCTAGCTCAAGCTACCAGTTCTGTCCCCCATCTCCACAGAAAACGGATTGATACAGTTTGGCTTTGTGTCCCTACCCAAATCTCATCTCAAATTGTAATCCCCAGGTGTTGAGAAAGGGACCTGTTGAGAGGTGATTGGCTCATGGGGGCAGTTTCCCCCAGGCTATTCTCGTGATAGTGAGTGAGTTCTCACCAGATCTGACAGTTTCATAAGAGGATCTTCGCCCTTCACTTCCTTCACAAGCTCTCTCACCTGCTGCCATTAAGACATGCCTTCTTCCCCTTCCACCATGATTATAAGTTTCCTGAGGCCTCCCCAGCCATGTGCAGCTGTGAGTCAGTTAAACCTCTTTTCTTTGTAAATTACCCAGTCTTGGGCAGTTCTTTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTN
|
pathogenic
| 324,359 |
Clinically, how would you classify the variant at chromosome 22, position 28695109, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
benign
|
TTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGT
|
TTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTN
|
benign
| 324,379 |
A genetic variant at chromosome 22, position 28695124, affecting gene CHEK2 (checkpoint kinase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
AACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTA
|
AACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTANN
|
pathogenic
| 324,384 |
The mutation impacting CHEK2 (checkpoint kinase 2) on chromosome 22 at position 28695125: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
ACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAA
|
ACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAN
|
pathogenic
| 324,387 |
Is the variant located on chromosome 22 at position 28695129, gene CHEK2 (checkpoint kinase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
ACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAG
|
ACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGNN
|
pathogenic
| 324,391 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 28695133, gene CHEK2 (checkpoint kinase 2). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Bone_osteosarcoma', 'CHEK2-related_cancer_predisposition', 'CHEK2-related_disorder', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome_2']
|
ATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGG
|
ATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAG
|
pathogenic
| 324,393 |
For chromosome 22, position 28695137, gene CHEK2 (checkpoint kinase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Familial_cancer_of_breast']
|
ACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAA
|
ACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGAACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAA
|
pathogenic
| 324,397 |
Mutation found at chromosome 22 position 28695141, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
ACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAA
|
ACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTGCCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATG
|
pathogenic
| 324,399 |
Considering the variant on chromosome 22, location 28695144, involving gene CHEK2 (checkpoint kinase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
AAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAA
|
AAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAN
|
pathogenic
| 324,401 |
A genetic variant on chromosome 22, position 28695151, affects the gene CHEK2 (checkpoint kinase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
|
AATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACT
|
AATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTNN
|
pathogenic
| 324,404 |
Gene mutation in CHEK2 (checkpoint kinase 2) at chromosome 22, position 28695157—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
TAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAAC
|
TAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACN
|
pathogenic
| 324,406 |
Regarding the variant found on chromosome 22 at position 28695160 in gene CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Familial_cancer_of_breast']
|
AAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAAT
|
AAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATN
|
pathogenic
| 324,408 |
Does the variant on chromosome 22 at location 28695164 affecting gene CHEK2 (checkpoint kinase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
GGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAAC
|
GGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACN
|
pathogenic
| 324,409 |
Regarding the variant found on chromosome 22 at position 28695167 in gene CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
CATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTT
|
CATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCT
|
pathogenic
| 324,411 |
Located at chromosome 22 position 28695169, the variant affecting gene CHEK2 (checkpoint kinase 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Familial_cancer_of_breast']
|
TGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTC
|
TGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTCN
|
pathogenic
| 324,413 |
Located at chromosome 22 position 28695178, the variant affecting gene CHEK2 (checkpoint kinase 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
TGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTCATTTCACTT
|
TGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTCATTTCACTTN
|
pathogenic
| 324,414 |
Chromosome 22, position 28695187, gene CHEK2 (checkpoint kinase 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Familial_cancer_of_breast']
|
CTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTCATTTCACTTTAAGATAAT
|
CTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGTCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTCATTTCACTTTAAGATAATN
|
pathogenic
| 324,416 |
Does the variant on chromosome 22 at location 28695195 affecting gene CHEK2 (checkpoint kinase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
|
TACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTCATTTCACTTTAAGATAATAAACAACT
|
TACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCATGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTCATTTCACTTTAAGATAATAAACAACTN
|
pathogenic
| 324,419 |
The chromosome 22, position 28695196 genetic variant in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
|
ACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTCATTTCACTTTAAGATAATAAACAACTC
|
ACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTCCCTGATTTAAGGTTGAAGATGGCTGGAATGCACCCCACCTATGAAGAGCAGTGGACATGGCTGGGGGTAGAGCCAGAACAAGCACTCAAAAGAACACAGGCCAAACAGGAGACTCGGGGCAGCCAAGTGGAACCAGAACAGGACATAAAGTGAGCGTGTACATCCAACAGCCATGAGTAATATCAAAAAGGTTGTAGCCTGGCCAGCACGGCGAAACCCCATCTCTACAAAAAATACAAAAAGTAGCTGGGCATGGCAGCATGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGGGCCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCAGGGTGACAGAACAAGAACCTGTCTCAAAAAAAAAAATAAAACAGGTTGTAACCCATCCTCCAAGATACCCCCCATACATCTAAAACAATTAGATTAAACACTCAACAAAGTAAACATGTTTCTGTCCTCTGTCTCATGTCTCTCAGGCAGCAGGGCTTCCCATGTATTTTATGCTAGCAGGCACTGTCCCACACCCACCTGAAGCCACGGGTGTCTTAAGGCTTCTTCTGTCGTAAAACGTGCCTTTGGATCCACTACCAACAACTTCTTGACAAGGTCCAGAGCTAAAGCAACAATTGGGCAAATCACAGTGAAAAGGATAAATATATTATCAGTAAGAGTATGCCAGAATTAACAGGCCACCATTCAGAAAGAGCAGAGAGGGTCTGAGATCATCACGGAGTCAGCAGACAGGGCCCCCTAATCTTCCTCACTCTCTGTATTCAGAGTACTGTGAGAAGACCAGGAATGATAATGACACTCCCTGTCTCCTGCTGCTGGGACGTCAGTCACGACCTCTTCACTGCCTGTTCCCTCTCTTGTTGCTAGACTCAAGGTCGGACTAATTAAAGCTAAACTTCTACCCAATTCTAAGATACTTGGGATGCACAGCAAACTCTCTCTGACATCTACAGATGGATAGGTGACAGTTACTCAGCGAGGGAGAGGCTCCCTGGAACTGCAGACTTGTCAGAAATAAAACTTGGCTACTCCAGCAAGCAACAAATGCACGCTGGCCTGTATATTACAACATTATTATTCCTTAAATATTCTGACATTTAACACAATCACCTATGTTATGTTATTTGACATTTAATTTTCTACTTTCTCTTCAGGGAACTAAAGTTGCCAGGATAAATTATAAAATACAAGGTAACTAATGACATCTAGTTTTTACATGCTTGCTTACTCAAAGGAAACCTTGTAACTAAAAAGTTACAAGTGCATTTATTTTGCTCACTAAAATAGGTACCAGGCACTTGTGTACATGATACTTAACCCTCACAAAAACCTTTTAAGGTAGGGTTTATTGAGGGTCCCTTTACACAGAAAGAAATTGGAGATGGAGGTTAAATAACTTGCCTAAGGCCACACAGCTAAGTAGTAGCAGACCCAGGACCTGAGTGCATGCTCTTAATAATTTCCAGTGCCTCTCAAATGGTGTGAAACTAACAATAGAAAATAAGAACAGAATTGACAGGAGAAAACACCATGGAATTTGGGAAGAAACTCCCACCACAGCACATACACATTTTAGCATACCACAAATTCTTAACCCTTTCATATTCATACCTTTCTCTGAGACTTCTGCCCAGACTTCAGGAATGAAGTTGTATTTTCCACTGGTGATCTGATCCTTCAGTTGACACTTGAGTCCTATGCTCAGAGAAAGGTGGATACCCACTAAGGCTTAATATTGGTAGAGAGAGAAAGGAAAAGAAATCAAGTGGCATTCTCAGTGGCATTCAGATATAAAGATTTCTTTTTCAGCATAATGAAAAGTCAGATTTTTCTTTAAATCAATGGTCAAAAAGTGAGCTAGGCTGGGCACAATGCCTTAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCCATCACTACAAAAAATAGAAAAATTAGCTGGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGACCCAGGAGGCAGAGGCTACAGTTAGCCAAGATCAAGCCACTGCATGCCAGCCTGGACAACAGAGCAAGACACATTTGTGACTTCATCTAATCACCTCCTACCAGTCTGTGCAGCAATGAAAATATTTCTTACCAGATAAAAAGAATAACTCCTAAACTCCAGCAGTCCACAGCACGGTTATACCCAGCAGTCCCAACAGAAACAAGAACTTCAGGCGCCAAGTAGGTGGGGGTTCCACATAAGGTTCTCATGAGAGAGGTCTCTCCCAAAATCTTGGAGTGCCCAAAATCAGTAATCTAAAATTCAGTACAAAAGGGAATAATGTTGAACTTGCCATAAAATAAAAAGATTAACATAGTCTGCCAGTCCAAGAAGACACGTAGGCTAGATCAGTTTCTATTGTACAATTCACACCTGCCATTAATCTGGAATTTACAGATTCATGTCTTTGCAAGTTAGGACATTTAATTTTGCTTAAATTAAAATTCCTGAGCCTAGGAATCTCAACACTCAGGCTTTCCAACTTAACCTATGTCCTCTGTAATCTTACAAAAAGCTTATTATCTTTATCACAGACACTTCAGGATTCTAATTAGTTCTACATGGTTCTTAGACCCCAGTGTCTCAAACTTGGCTGCGCTATGGAATACCTGGGGAGCTTGGAAACACATGCTTATACCTGAGTGCCACTCTCAGCTTCTGAGGTAAAGCCTGGGTGTCATAAATCCTAACAAGAGATTCTAAAGTGATGCCAGACTTGAGAAACAGGGAAAGGCAGCGCATGTGATTACTCATTCATTCATTCACCTATTCTGAGATGATGTCTGGCCCTTTTGCACAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGACACCCACCACCATGCCCAGCTAAATTTTTGTATTTTTTGCCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATACCCAGCCCACTCGTCCATTTAGACCCCTCCTCTCTCTCTAAGCACAAAGGTCACTTGTACACAACAGAGCTCAATAAATGCTCATTCGAATCTGGATAAGAGCAGTATCACCTGATCTCTAAAATAATTGGTAACAGTGAAAGGGTCAGATTCTCATCCTTTTTACGCTCCCACTTTTTATTTGAGGAATTAAAAGTTTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTCATTTCACTTTAAGATAATAAACAACT
|
pathogenic
| 324,420 |
Subsets and Splits
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