| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339244C>T | CA387783518 | BRCA2 | c.4889C>T (p.Ser1630Leu) c.4520C>T (p.Ser1507Leu) n.4889C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339244C>A | CA020952 | BRCA2 | c.4889C>A (p.Ser1630Ter) c.4520C>A (p.Ser1507Ter) n.4889C>A | ClinVar dbSNP |
| 13 | g.32339244C>G | CA020955 | BRCA2 | c.4889C>G (p.Ser1630Ter) c.4520C>G (p.Ser1507Ter) n.4889C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |