| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109803113T>C | CA129245 | TRPV4 | c.590A>G (p.Lys197Arg) n.621A>G c.488A>G (p.Lys163Arg) c.743A>G (p.Lys248Arg) | ClinVar dbSNP |
| 12 | g.109803113T= | CA2062577821 | TRPV4 | c.590A= (p.Lys197=) n.621A= c.488A= (p.Lys163=) c.743A= (p.Lys248=) | dbSNP |