Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340455C>G | CA387788091 | BRCA2 | c.6100C>G (p.Arg2034Gly) c.5731C>G (p.Arg1911Gly) n.6100C>G | ClinVar dbSNP |
13 | g.32340455C>A | CA387788089 | BRCA2 | c.6100C>A (p.Arg2034Ser) c.5731C>A (p.Arg1911Ser) n.6100C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340455C>T | CA023652 | BRCA2 | c.6100C>T (p.Arg2034Cys) c.5731C>T (p.Arg1911Cys) n.6100C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |