| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109792664G>C | CA347750 | TRPV4 | c.1812C>G (p.Ile604Met) c.*899C>G (n.*899C>G) n.1843C>G c.1710C>G (p.Ile570Met) c.1632C>G (p.Ile544Met) c.*195C>G (n.*195C>G) c.1671C>G (p.Ile557Met) c.1491C>G (p.Ile497Met) c.1965C>G (p.Ile655Met) c.1824C>G (p.Ile608Met) c.1785C>G (p.Ile595Met) c.1644C>G (p.Ile548Met) | ClinVar dbSNP |
| 12 | g.109792664G>A | CA481724453 | TRPV4 | c.1812C>T (p.Ile604=) c.*899C>T (n.*899C>T) n.1843C>T c.1710C>T (p.Ile570=) c.1632C>T (p.Ile544=) c.*195C>T (n.*195C>T) c.1671C>T (p.Ile557=) c.1491C>T (p.Ile497=) c.1965C>T (p.Ile655=) c.1824C>T (p.Ile608=) c.1785C>T (p.Ile595=) c.1644C>T (p.Ile548=) | dbSNP gnomAD v4 |
| 12 | g.109792664G= | CA2062564550 | TRPV4 | c.1812C= (p.Ile604=) c.*899C= (n.*899C=) n.1843C= c.1710C= (p.Ile570=) c.1632C= (p.Ile544=) c.*195C= (n.*195C=) c.1671C= (p.Ile557=) c.1491C= (p.Ile497=) c.1965C= (p.Ile655=) c.1824C= (p.Ile608=) c.1785C= (p.Ile595=) c.1644C= (p.Ile548=) | dbSNP dbSNP |