| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109792671T>C | CA129239 | TRPV4 | c.1805A>G (p.Tyr602Cys) c.*892A>G (n.*892A>G) n.1836A>G c.1703A>G (p.Tyr568Cys) c.1625A>G (p.Tyr542Cys) c.*188A>G (n.*188A>G) c.1664A>G (p.Tyr555Cys) c.1484A>G (p.Tyr495Cys) c.1958A>G (p.Tyr653Cys) c.1817A>G (p.Tyr606Cys) c.1778A>G (p.Tyr593Cys) c.1637A>G (p.Tyr546Cys) | ClinVar dbSNP |
| 12 | g.109792671T= | CA2062564556 | TRPV4 | c.1805A= (p.Tyr602=) c.*892A= (n.*892A=) n.1836A= c.1703A= (p.Tyr568=) c.1625A= (p.Tyr542=) c.*188A= (n.*188A=) c.1664A= (p.Tyr555=) c.1484A= (p.Tyr495=) c.1958A= (p.Tyr653=) c.1817A= (p.Tyr606=) c.1778A= (p.Tyr593=) c.1637A= (p.Tyr546=) | dbSNP |