| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32340347C>G | CA10579673 | BRCA2 | c.5992C>G (p.Gln1998Glu) c.5623C>G (p.Gln1875Glu) n.5992C>G | ClinVar dbSNP |
| 13 | g.32340347C>A | CA387787660 | BRCA2 | c.5992C>A (p.Gln1998Lys) c.5623C>A (p.Gln1875Lys) n.5992C>A | dbSNP |
| 13 | g.32340347C>T | CA023471 | BRCA2 | c.5992C>T (p.Gln1998Ter) c.5623C>T (p.Gln1875Ter) n.5992C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |