| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109792704T>C | CA347734 | TRPV4 | c.1772A>G (p.Tyr591Cys) c.*859A>G (n.*859A>G) n.1803A>G c.1670A>G (p.Tyr557Cys) c.1592A>G (p.Tyr531Cys) c.*155A>G (n.*155A>G) c.1631A>G (p.Tyr544Cys) c.1451A>G (p.Tyr484Cys) c.1925A>G (p.Tyr642Cys) c.*63A>G (n.*63A>G) c.1784A>G (p.Tyr595Cys) c.1745A>G (p.Tyr582Cys) c.1604A>G (p.Tyr535Cys) | ClinVar dbSNP |
| 12 | g.109792704T= | CA2062564624 | TRPV4 | c.1772A= (p.Tyr591=) c.*859A= (n.*859A=) n.1803A= c.1670A= (p.Tyr557=) c.1592A= (p.Tyr531=) c.*155A= (n.*155A=) c.1631A= (p.Tyr544=) c.1451A= (p.Tyr484=) c.1925A= (p.Tyr642=) c.*63A= (n.*63A=) c.1784A= (p.Tyr595=) c.1745A= (p.Tyr582=) c.1604A= (p.Tyr535=) | dbSNP |