Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340420C>G | CA023591 | BRCA2 | c.6065C>G (p.Ser2022Ter) c.5696C>G (p.Ser1899Ter) n.6065C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340420C>T | CA387787947 | BRCA2 | c.6065C>T (p.Ser2022Leu) c.5696C>T (p.Ser1899Leu) n.6065C>T | dbSNP COSMIC COSMIC |
13 | g.32340420C>A | CA387787945 | BRCA2 | c.6065C>A (p.Ser2022Ter) c.5696C>A (p.Ser1899Ter) n.6065C>A | dbSNP |