| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21842327G>A | CA260058 | ABCC9 | c.3460C>T (p.Arg1154Trp) n.1037C>T c.*2558C>T (n.*2558C>T) n.2961C>T c.3409C>T (p.Arg1137Trp) c.2341C>T (p.Arg781Trp) c.3421C>T (p.Arg1141Trp) c.3319C>T (p.Arg1107Trp) c.2593C>T (p.Arg865Trp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.21842327G>C | CA10588545 | ABCC9 | c.3460C>G (p.Arg1154Gly) n.1037C>G c.*2558C>G (n.*2558C>G) n.2961C>G c.3409C>G (p.Arg1137Gly) c.2341C>G (p.Arg781Gly) c.3421C>G (p.Arg1141Gly) c.3319C>G (p.Arg1107Gly) c.2593C>G (p.Arg865Gly) | ClinVar dbSNP |