| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109800665C>T | CA117180 | TRPV4 | c.806G>A (p.Arg269His) c.835G>A (p.Val279Met) n.837G>A c.704G>A (p.Arg235His) c.713-1753G>A (n.713-1753G>A) c.959G>A (p.Arg320His) c.866-1753G>A (n.866-1753G>A) | ClinVar dbSNP COSMIC |
| 12 | g.109800665C= | CA2062574744 | TRPV4 | c.806G= (p.Arg269=) c.835G= (p.Val279=) n.837G= c.704G= (p.Arg235=) c.713-1753G= (n.713-1753G=) c.959G= (p.Arg320=) c.866-1753G= (n.866-1753G=) | dbSNP |
| 12 | g.109800665C>G | CA386655323 | TRPV4 | c.806G>C (p.Arg269Pro) c.835G>C (p.Val279Leu) n.837G>C c.704G>C (p.Arg235Pro) c.713-1753G>C (n.713-1753G>C) c.959G>C (p.Arg320Pro) c.866-1753G>C (n.866-1753G>C) | dbSNP gnomAD v4 |