| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109792702A>G | CA347771 | TRPV4 | c.1774T>C (p.Phe592Leu) c.*861T>C (n.*861T>C) n.1805T>C c.1672T>C (p.Phe558Leu) c.1594T>C (p.Phe532Leu) c.*157T>C (n.*157T>C) c.1633T>C (p.Phe545Leu) c.1453T>C (p.Phe485Leu) c.1927T>C (p.Phe643Leu) c.*65T>C (n.*65T>C) c.1786T>C (p.Phe596Leu) c.1747T>C (p.Phe583Leu) c.1606T>C (p.Phe536Leu) | ClinVar dbSNP |
| 12 | g.109792702A= | CA2062564616 | TRPV4 | c.1774T= (p.Phe592=) c.*861T= (n.*861T=) n.1805T= c.1672T= (p.Phe558=) c.1594T= (p.Phe532=) c.*157T= (n.*157T=) c.1633T= (p.Phe545=) c.1453T= (p.Phe485=) c.1927T= (p.Phe643=) c.*65T= (n.*65T=) c.1786T= (p.Phe596=) c.1747T= (p.Phe583=) c.1606T= (p.Phe536=) | dbSNP |