| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32371040C>A | CA025715 | BRCA2 | c.8572C>A (p.Gln2858Lys) c.8203C>A (p.Gln2735Lys) c.1039C>A (p.Gln347Lys) c.8580C>A (n.8580C>A) c.1137C>A c.70C>A (p.Gln24Lys) c.8476C>A (p.Gln2826Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371040C>T | CA025716 | BRCA2 | c.8572C>T (p.Gln2858Ter) c.8203C>T (p.Gln2735Ter) c.1039C>T (p.Gln347Ter) c.8580C>T (n.8580C>T) c.1137C>T c.70C>T (p.Gln24Ter) c.8476C>T (p.Gln2826Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |