| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32363204A>T | CA025396 | BRCA2 | c.8002A>T (p.Arg2668Ter) c.7633A>T (p.Arg2545Ter) c.469A>T (p.Arg157Ter) c.8010A>T (n.8010A>T) c.567A>T c.7906A>T (p.Arg2636Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32363204A>G | CA6941178 | BRCA2 | c.8002A>G (p.Arg2668Gly) c.7633A>G (p.Arg2545Gly) c.469A>G (p.Arg157Gly) c.8010A>G (n.8010A>G) c.567A>G c.7906A>G (p.Arg2636Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32363204A= | CA2082834322 | BRCA2 | c.8002A= (p.Arg2668=) c.7633A= (p.Arg2545=) c.469A= (p.Arg157=) c.8010A= (n.8010A=) c.567A= c.7906A= (p.Arg2636=) | dbSNP |