Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.109803106C>TCA481719866TRPV4c.597G>A (p.Leu199=)
n.628G>A
c.495G>A (p.Leu165=)
c.750G>A (p.Leu250=)
dbSNP gnomAD v2 gnomAD v4
12g.109803106C>GCA347700TRPV4c.597G>C (p.Leu199Phe)
n.628G>C
c.495G>C (p.Leu165Phe)
c.750G>C (p.Leu250Phe)
ClinVar dbSNP

Number of alleles fetched