| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32380136A>G | CA026048 | BRCA2 | c.9247A>G (p.Lys3083Glu) c.*614A>G (n.*614A>G) c.8878A>G (p.Lys2960Glu) c.*809A>G (n.*809A>G) c.9196A>G (p.Lys3066Glu) c.1663A>G (p.Lys555Glu) n.1374A>G c.9255A>G (n.9255A>G) c.2125A>G c.130A>G (p.Lys44Glu) c.204A>G c.9151A>G (p.Lys3051Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32380136A>T | CA026049 | BRCA2 | c.9247A>T (p.Lys3083Ter) c.*614A>T (n.*614A>T) c.8878A>T (p.Lys2960Ter) c.*809A>T (n.*809A>T) c.9196A>T (p.Lys3066Ter) c.1663A>T (p.Lys555Ter) n.1374A>T c.9255A>T (n.9255A>T) c.2125A>T c.130A>T (p.Lys44Ter) c.204A>T c.9151A>T (p.Lys3051Ter) | ClinVar dbSNP |