| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32333310C>A | CA013511 | BRCA2 | c.1832C>A (p.Ser611Ter) c.1463C>A (p.Ser488Ter) n.1832C>A | ClinVar dbSNP |
| 13 | g.32333310C>G | CA501226 | BRCA2 | c.1832C>G (p.Ser611Ter) c.1463C>G (p.Ser488Ter) n.1832C>G | ClinVar dbSNP |
| 13 | g.32333310C>T | CA6940544 | BRCA2 | c.1832C>T (p.Ser611Leu) c.1463C>T (p.Ser488Leu) n.1832C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |