| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109798819C>A | CA386654855 | TRPV4 | c.947G>T (p.Arg316Leu) c.*34G>T (n.*34G>T) n.978G>T c.845G>T (p.Arg282Leu) c.806G>T (p.Arg269Leu) c.1100G>T (p.Arg367Leu) c.959G>T (p.Arg320Leu) | ClinVar dbSNP |
| 12 | g.109798819C>T | CA259821 | TRPV4 | c.947G>A (p.Arg316His) c.*34G>A (n.*34G>A) n.978G>A c.845G>A (p.Arg282His) c.806G>A (p.Arg269His) c.1100G>A (p.Arg367His) c.959G>A (p.Arg320His) | ClinVar dbSNP |