| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109798820G>T | CA16619426 | TRPV4 | c.946C>A (p.Arg316Ser) c.*33C>A (n.*33C>A) n.977C>A c.844C>A (p.Arg282Ser) c.805C>A (p.Arg269Ser) c.1099C>A (p.Arg367Ser) c.958C>A (p.Arg320Ser) | ClinVar dbSNP |
| 12 | g.109798820G>A | CA117182 | TRPV4 | c.946C>T (p.Arg316Cys) c.*33C>T (n.*33C>T) n.977C>T c.844C>T (p.Arg282Cys) c.805C>T (p.Arg269Cys) c.1099C>T (p.Arg367Cys) c.958C>T (p.Arg320Cys) | ClinVar dbSNP COSMIC |