| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109792403G>T | CA347704 | TRPV4 | c.1851C>A (p.Phe617Leu) c.*938C>A (n.*938C>A) n.1882C>A c.1749C>A (p.Phe583Leu) c.1671C>A (p.Phe557Leu) c.*234C>A (n.*234C>A) c.1710C>A (p.Phe570Leu) c.1530C>A (p.Phe510Leu) c.2004C>A (p.Phe668Leu) c.1863C>A (p.Phe621Leu) c.1824C>A (p.Phe608Leu) c.1683C>A (p.Phe561Leu) | ClinVar dbSNP |
| 12 | g.109792403G= | CA2062564273 | TRPV4 | c.1851C= (p.Phe617=) c.*938C= (n.*938C=) n.1882C= c.1749C= (p.Phe583=) c.1671C= (p.Phe557=) c.*234C= (n.*234C=) c.1710C= (p.Phe570=) c.1530C= (p.Phe510=) c.2004C= (p.Phe668=) c.1863C= (p.Phe621=) c.1824C= (p.Phe608=) c.1683C= (p.Phe561=) | dbSNP |