Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32354913C>G | CA387738334 | BRCA2 | c.7060C>G (p.Gln2354Glu) c.6691C>G (p.Gln2231Glu) n.7060C>G c.6964C>G (p.Gln2322Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32354913C>A | CA387738333 | BRCA2 | c.7060C>A (p.Gln2354Lys) c.6691C>A (p.Gln2231Lys) n.7060C>A c.6964C>A (p.Gln2322Lys) | dbSNP |
13 | g.32354913C>T | CA024825 | BRCA2 | c.7060C>T (p.Gln2354Ter) c.6691C>T (p.Gln2231Ter) n.7060C>T c.6964C>T (p.Gln2322Ter) | ClinVar dbSNP COSMIC COSMIC |