Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32356472C>A | CA6941103 | BRCA2 | c.7480C>A (p.Arg2494=) c.7111C>A (p.Arg2371=) c.45C>A n.7480C>A c.7384C>A (p.Arg2462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356472C>T | CA025108 | BRCA2 | c.7480C>T (p.Arg2494Ter) c.7111C>T (p.Arg2371Ter) c.45C>T n.7480C>T c.7384C>T (p.Arg2462Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |