| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.74782398T>C | CA206486 | TRPM6 | c.3173A>G (p.Tyr1058Cys) c.3158A>G (p.Tyr1053Cys) c.3080A>G (p.Tyr1027Cys) c.3044A>G (p.Tyr1015Cys) c.3032A>G (p.Tyr1011Cys) c.2939A>G (p.Tyr980Cys) c.2897A>G (p.Tyr966Cys) c.2444A>G (p.Tyr815Cys) c.1106A>G (p.Tyr369Cys) n.3411A>G n.3332+281A>G c.2810A>G (p.Tyr937Cys) c.2663A>G (p.Tyr888Cys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.74782398T= | CA1856036742 | TRPM6 | c.3173A= (p.Tyr1058=) c.3158A= (p.Tyr1053=) c.3080A= (p.Tyr1027=) c.3044A= (p.Tyr1015=) c.3032A= (p.Tyr1011=) c.2939A= (p.Tyr980=) c.2897A= (p.Tyr966=) c.2444A= (p.Tyr815=) c.1106A= (p.Tyr369=) n.3411A= n.3332+281A= c.2810A= (p.Tyr937=) c.2663A= (p.Tyr888=) | dbSNP |