| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.74792667T>C | CA16609847 | TRPM6 | c.2495A>G (p.Tyr832Cys) c.2480A>G (p.Tyr827Cys) c.2402A>G (p.Tyr801Cys) c.2354A>G (p.Tyr785Cys) c.2261A>G (p.Tyr754Cys) c.2391+4074A>G (n.2391+4074A>G) c.1766A>G (p.Tyr589Cys) c.428A>G (p.Tyr143Cys) n.2733A>G c.2157+4074A>G (n.2157+4074A>G) | ClinVar dbSNP gnomAD v4 |
| 9 | g.74792667T>A | CA373680032 | TRPM6 | c.2495A>T (p.Tyr832Phe) c.2480A>T (p.Tyr827Phe) c.2402A>T (p.Tyr801Phe) c.2354A>T (p.Tyr785Phe) c.2261A>T (p.Tyr754Phe) c.2391+4074A>T (n.2391+4074A>T) c.1766A>T (p.Tyr589Phe) c.428A>T (p.Tyr143Phe) n.2733A>T c.2157+4074A>T (n.2157+4074A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |