12 | g.109803106C>T | CA481719866 | TRPV4 | c.597G>A (p.Leu199=) n.628G>A c.495G>A (p.Leu165=) c.750G>A (p.Leu250=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.109803106C>G | CA347700 | TRPV4 | c.597G>C (p.Leu199Phe) n.628G>C c.495G>C (p.Leu165Phe) c.750G>C (p.Leu250Phe)
| ClinVar dbSNP |