| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109814565C>A | CA129247 | TRPV4 | c.232G>T (p.Gly78Trp) n.263G>T c.130G>T (p.Gly44Trp) c.385G>T (p.Gly129Trp) | ClinVar dbSNP |
| 12 | g.109814565C= | CA2062587801 | TRPV4 | c.232G= (p.Gly78=) n.263G= c.130G= (p.Gly44=) c.385G= (p.Gly129=) | dbSNP |