| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109792401A>G | CA347744 | TRPV4 | c.1853T>C (p.Leu618Pro) c.*940T>C (n.*940T>C) n.1884T>C c.1751T>C (p.Leu584Pro) c.1673T>C (p.Leu558Pro) c.*236T>C (n.*236T>C) c.1712T>C (p.Leu571Pro) c.1532T>C (p.Leu511Pro) c.2006T>C (p.Leu669Pro) c.1865T>C (p.Leu622Pro) c.1826T>C (p.Leu609Pro) c.1685T>C (p.Leu562Pro) | ClinVar dbSNP |
| 12 | g.109792401A= | CA2062564261 | TRPV4 | c.1853T= (p.Leu618=) c.*940T= (n.*940T=) n.1884T= c.1751T= (p.Leu584=) c.1673T= (p.Leu558=) c.*236T= (n.*236T=) c.1712T= (p.Leu571=) c.1532T= (p.Leu511=) c.2006T= (p.Leu669=) c.1865T= (p.Leu622=) c.1826T= (p.Leu609=) c.1685T= (p.Leu562=) | dbSNP |