| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109792689A>G | CA347726 | TRPV4 | c.1787T>C (p.Leu596Pro) c.*874T>C (n.*874T>C) n.1818T>C c.1685T>C (p.Leu562Pro) c.1607T>C (p.Leu536Pro) c.*170T>C (n.*170T>C) c.1646T>C (p.Leu549Pro) c.1466T>C (p.Leu489Pro) c.1940T>C (p.Leu647Pro) c.*78T>C (n.*78T>C) c.1799T>C (p.Leu600Pro) c.1760T>C (p.Leu587Pro) c.1619T>C (p.Leu540Pro) | ClinVar dbSNP |
| 12 | g.109792689A= | CA2062564586 | TRPV4 | c.1787T= (p.Leu596=) c.*874T= (n.*874T=) n.1818T= c.1685T= (p.Leu562=) c.1607T= (p.Leu536=) c.*170T= (n.*170T=) c.1646T= (p.Leu549=) c.1466T= (p.Leu489=) c.1940T= (p.Leu647=) c.*78T= (n.*78T=) c.1799T= (p.Leu600=) c.1760T= (p.Leu587=) c.1619T= (p.Leu540=) | dbSNP |