| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109800662C>A | CA342823 | TRPV4 | c.809G>T (p.Gly270Val) c.838G>T (p.Gly280Cys) n.840G>T c.707G>T (p.Gly236Val) c.713-1750G>T (n.713-1750G>T) c.962G>T (p.Gly321Val) c.866-1750G>T (n.866-1750G>T) | ClinVar dbSNP |
| 12 | g.109800662C= | CA2062574741 | TRPV4 | c.809G= (p.Gly270=) c.838G= (p.Gly280=) n.840G= c.707G= (p.Gly236=) c.713-1750G= (n.713-1750G=) c.962G= (p.Gly321=) c.866-1750G= (n.866-1750G=) | dbSNP |