| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32330949G>A | CA387759950 | BRCA2 | c.712G>A (p.Glu238Lys) c.343G>A (p.Glu115Lys) c.*491G>A (n.*491G>A) n.910G>A n.712G>A | dbSNP |
| 13 | g.32330949G>T | CA024893 | BRCA2 | c.712G>T (p.Glu238Ter) c.343G>T (p.Glu115Ter) c.*491G>T (n.*491G>T) n.910G>T n.712G>T | ClinVar dbSNP |
| 13 | g.32330949G>C | CA6940437 | BRCA2 | c.712G>C (p.Glu238Gln) c.343G>C (p.Glu115Gln) c.*491G>C (n.*491G>C) n.910G>C n.712G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |