| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109808308C>T | CA117197 | TRPV4 | c.547G>A (p.Glu183Lys) n.578G>A c.445G>A (p.Glu149Lys) c.700G>A (p.Glu234Lys) | ClinVar dbSNP |
| 12 | g.109808308C= | CA2062582098 | TRPV4 | c.547G= (p.Glu183=) n.578G= c.445G= (p.Glu149=) c.700G= (p.Glu234=) | dbSNP |