| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339699C>T | CA022075 | BRCA2 | c.5344C>T (p.Gln1782Ter) c.4975C>T (p.Gln1659Ter) n.5344C>T | ClinVar dbSNP |
| 13 | g.32339699C>G | CA022069 | BRCA2 | c.5344C>G (p.Gln1782Glu) c.4975C>G (p.Gln1659Glu) n.5344C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339699C>A | CA022062 | BRCA2 | c.5344C>A (p.Gln1782Lys) c.4975C>A (p.Gln1659Lys) n.5344C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |