| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32357771C>A | CA025210 | BRCA2 | c.7647C>A (p.Cys2549Ter) c.7278C>A (p.Cys2426Ter) c.114C>A (p.Cys38Ter) c.212C>A n.7647C>A c.7551C>A (p.Cys2517Ter) | ClinVar dbSNP |
| 13 | g.32357771C>T | CA483439151 | BRCA2 | c.7647C>T (p.Cys2549=) c.7278C>T (p.Cys2426=) c.114C>T (p.Cys38=) c.212C>T n.7647C>T c.7551C>T (p.Cys2517=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357771C>G | CA387744899 | BRCA2 | c.7647C>G (p.Cys2549Trp) c.7278C>G (p.Cys2426Trp) c.114C>G (p.Cys38Trp) c.212C>G n.7647C>G c.7551C>G (p.Cys2517Trp) | dbSNP |
| 13 | g.32357771C= | CA2082817769 | BRCA2 | c.7647C= (p.Cys2549=) c.7278C= (p.Cys2426=) c.114C= (p.Cys38=) c.212C= n.7647C= c.7551C= (p.Cys2517=) | dbSNP |