| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32356496C>A | CA387743431 | BRCA2 | c.7504C>A (p.Arg2502Ser) c.7135C>A (p.Arg2379Ser) c.69C>A n.7504C>A c.7408C>A (p.Arg2470Ser) | ClinVar dbSNP |
| 13 | g.32356496C>G | CA387743435 | BRCA2 | c.7504C>G (p.Arg2502Gly) c.7135C>G (p.Arg2379Gly) c.69C>G n.7504C>G c.7408C>G (p.Arg2470Gly) | ClinVar dbSNP |
| 13 | g.32356496C>T | CA025120 | BRCA2 | c.7504C>T (p.Arg2502Cys) c.7135C>T (p.Arg2379Cys) c.69C>T n.7504C>T c.7408C>T (p.Arg2470Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |