| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109800645T>G | CA386655284 | TRPV4 | c.826A>C (p.Lys276Gln) c.855A>C (p.Pro285=) n.857A>C c.724A>C (p.Lys242Gln) c.713-1733A>C (n.713-1733A>C) c.979A>C (p.Lys327Gln) c.866-1733A>C (n.866-1733A>C) | ClinVar dbSNP |
| 12 | g.109800645T>C | CA129254 | TRPV4 | c.826A>G (p.Lys276Glu) c.855A>G (p.Pro285=) n.857A>G c.724A>G (p.Lys242Glu) c.713-1733A>G (n.713-1733A>G) c.979A>G (p.Lys327Glu) c.866-1733A>G (n.866-1733A>G) | ClinVar dbSNP |
| 12 | g.109800645T= | CA2062574701 | TRPV4 | c.826A= (p.Lys276=) c.855A= (p.Pro285=) n.857A= c.724A= (p.Lys242=) c.713-1733A= (n.713-1733A=) c.979A= (p.Lys327=) c.866-1733A= (n.866-1733A=) | dbSNP |