| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32356550C>A | CA483260420 | BRCA2 | c.7558C>A (p.Arg2520=) c.7189C>A (p.Arg2397=) c.25C>A (p.Arg9=) c.123C>A n.7558C>A c.7462C>A (p.Arg2488=) | ClinVar dbSNP |
| 13 | g.32356550C>G | CA387743717 | BRCA2 | c.7558C>G (p.Arg2520Gly) c.7189C>G (p.Arg2397Gly) c.25C>G (p.Arg9Gly) c.123C>G n.7558C>G c.7462C>G (p.Arg2488Gly) | ClinVar dbSNP |
| 13 | g.32356550C>T | CA025146 | BRCA2 | c.7558C>T (p.Arg2520Ter) c.7189C>T (p.Arg2397Ter) c.25C>T (p.Arg9Ter) c.123C>T n.7558C>T c.7462C>T (p.Arg2488Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356550C= | CA2082815143 | BRCA2 | c.7558C= (p.Arg2520=) c.7189C= (p.Arg2397=) c.25C= (p.Arg9=) c.123C= n.7558C= c.7462C= (p.Arg2488=) | dbSNP dbSNP |