Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32363211C>G | CA387748738 | BRCA2 | c.8009C>G (p.Ser2670Trp) c.7640C>G (p.Ser2547Trp) c.476C>G (p.Ser159Trp) c.8017C>G (n.8017C>G) c.574C>G c.7913C>G (p.Ser2638Trp) | ClinVar dbSNP |
13 | g.32363211C>A | CA025400 | BRCA2 | c.8009C>A (p.Ser2670Ter) c.7640C>A (p.Ser2547Ter) c.476C>A (p.Ser159Ter) c.8017C>A (n.8017C>A) c.574C>A c.7913C>A (p.Ser2638Ter) | ClinVar dbSNP |
13 | g.32363211C>T | CA025401 | BRCA2 | c.8009C>T (p.Ser2670Leu) c.7640C>T (p.Ser2547Leu) c.476C>T (p.Ser159Leu) c.8017C>T (n.8017C>T) c.574C>T c.7913C>T (p.Ser2638Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |