| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32379814C>A | CA025930 | BRCA2 | c.9018C>A (p.Tyr3006Ter) c.*385C>A (n.*385C>A) c.8649C>A (p.Tyr2883Ter) c.*580C>A (n.*580C>A) c.8967C>A (p.Tyr2989Ter) c.1434C>A (p.Tyr478Ter) n.1145C>A c.9026C>A (n.9026C>A) c.1896C>A c.8922C>A (p.Tyr2974Ter) c.*56C>A (n.*56C>A) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32379814C>T | CA483439842 | BRCA2 | c.9018C>T (p.Tyr3006=) c.*385C>T (n.*385C>T) c.8649C>T (p.Tyr2883=) c.*580C>T (n.*580C>T) c.8967C>T (p.Tyr2989=) c.1434C>T (p.Tyr478=) n.1145C>T c.9026C>T (n.9026C>T) c.1896C>T c.8922C>T (p.Tyr2974=) c.*56C>T (n.*56C>T) | dbSNP |
| 13 | g.32379814C>G | CA387757478 | BRCA2 | c.9018C>G (p.Tyr3006Ter) c.*385C>G (n.*385C>G) c.8649C>G (p.Tyr2883Ter) c.*580C>G (n.*580C>G) c.8967C>G (p.Tyr2989Ter) c.1434C>G (p.Tyr478Ter) n.1145C>G c.9026C>G (n.9026C>G) c.1896C>G c.8922C>G (p.Tyr2974Ter) c.*56C>G (n.*56C>G) | ClinVar dbSNP |