| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109800639C>T | CA117193 | TRPV4 | c.832G>A (p.Glu278Lys) c.861G>A (p.Met287Ile) n.863G>A c.730G>A (p.Glu244Lys) c.713-1727G>A (n.713-1727G>A) c.985G>A (p.Glu329Lys) c.866-1727G>A (n.866-1727G>A) | ClinVar dbSNP |
| 12 | g.109800639C= | CA2062574683 | TRPV4 | c.832G= (p.Glu278=) c.861G= (p.Met287=) n.863G= c.730G= (p.Glu244=) c.713-1727G= (n.713-1727G=) c.985G= (p.Glu329=) c.866-1727G= (n.866-1727G=) | dbSNP |