| 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 |
| 12 | g.21842327G= | CA2021311752 | ABCC9 | c.3460C= (p.Arg1154=) n.1037C= c.*2558C= (n.*2558C=) n.2961C= c.3409C= (p.Arg1137=) c.2341C= (p.Arg781=) c.3421C= (p.Arg1141=) c.3319C= (p.Arg1107=) c.2593C= (p.Arg865=) | dbSNP |