Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.109788483G>T | CA347781 | TRPV4 | c.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 |
12 | g.109788483G>A | CA6780021 | TRPV4 | c.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 |