| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109814531G>A | CA129242 | TRPV4 | c.266C>T (p.Thr89Ile) n.297C>T c.164C>T (p.Thr55Ile) c.419C>T (p.Thr140Ile) | ClinVar dbSNP |
| 12 | g.109814531G= | CA2062587769 | TRPV4 | c.266C= (p.Thr89=) n.297C= c.164C= (p.Thr55=) c.419C= (p.Thr140=) | dbSNP |