Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338377C>A | CA387779046 | BRCA2 | c.4022C>A (p.Ser1341Ter) c.3653C>A (p.Ser1218Ter) n.4022C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338377C>G | CA387779045 | BRCA2 | c.4022C>G (p.Ser1341Ter) c.3653C>G (p.Ser1218Ter) n.4022C>G | ClinVar dbSNP COSMIC COSMIC |
13 | g.32338377C>T | CA387779047 | BRCA2 | c.4022C>T (p.Ser1341Leu) c.3653C>T (p.Ser1218Leu) n.4022C>T | dbSNP |