Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.90083245A>G | CA856697439 | CALB1 | c.-92-1143T>C (n.-92-1143T>C) | dbSNP gnomAD v4 |
8 | g.90083245A>T | CA12731915 | CALB1 | c.-92-1143T>A (n.-92-1143T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.90083245A= | CA1801528483 | CALB1 | c.-92-1143T= (n.-92-1143T=) | dbSNP |