Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.109788483G>TCA347781TRPV4c.2125C>A (p.Leu709Met)
c.*1212C>A (n.*1212C>A)
n.2156C>A
c.2023C>A (p.Leu675Met)
c.1945C>A (p.Leu649Met)
c.*508C>A (n.*508C>A)
c.1984C>A (p.Leu662Met)
c.1804C>A (p.Leu602Met)
c.2278C>A (p.Leu760Met)
c.2137C>A (p.Leu713Met)
c.2098C>A (p.Leu700Met)
c.1957C>A (p.Leu653Met)
ClinVar dbSNP
12g.109788483G>ACA6780021TRPV4c.2125C>T (p.Leu709=)
c.*1212C>T (n.*1212C>T)
n.2156C>T
c.2023C>T (p.Leu675=)
c.1945C>T (p.Leu649=)
c.*508C>T (n.*508C>T)
c.1984C>T (p.Leu662=)
c.1804C>T (p.Leu602=)
c.2278C>T (p.Leu760=)
c.2137C>T (p.Leu713=)
c.2098C>T (p.Leu700=)
c.1957C>T (p.Leu653=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched