Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340264C>A | CA023362 | BRCA2 | c.5909C>A (p.Ser1970Ter) c.5540C>A (p.Ser1847Ter) n.5909C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340264C>G | CA387787511 | BRCA2 | c.5909C>G (p.Ser1970Ter) c.5540C>G (p.Ser1847Ter) n.5909C>G | ClinVar dbSNP |
13 | g.32340264C>T | CA023364 | BRCA2 | c.5909C>T (p.Ser1970Leu) c.5540C>T (p.Ser1847Leu) n.5909C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |