| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109793560G>C | CA386651602 | TRPV4 | c.1625C>G (p.Ser542Cys) c.*712C>G (n.*712C>G) n.1656C>G c.1523C>G (p.Ser508Cys) c.1445C>G (p.Ser482Cys) c.1484C>G (p.Ser495Cys) c.1304C>G (p.Ser435Cys) c.1778C>G (p.Ser593Cys) c.1637C>G (p.Ser546Cys) c.1598C>G (p.Ser533Cys) c.1457C>G (p.Ser486Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109793560G>T | CA259819 | TRPV4 | c.1625C>A (p.Ser542Tyr) c.*712C>A (n.*712C>A) n.1656C>A c.1523C>A (p.Ser508Tyr) c.1445C>A (p.Ser482Tyr) c.1484C>A (p.Ser495Tyr) c.1304C>A (p.Ser435Tyr) c.1778C>A (p.Ser593Tyr) c.1637C>A (p.Ser546Tyr) c.1598C>A (p.Ser533Tyr) c.1457C>A (p.Ser486Tyr) | ClinVar dbSNP |
| 12 | g.109793560G= | CA2062565458 | TRPV4 | c.1625C= (p.Ser542=) c.*712C= (n.*712C=) n.1656C= c.1523C= (p.Ser508=) c.1445C= (p.Ser482=) c.1484C= (p.Ser495=) c.1304C= (p.Ser435=) c.1778C= (p.Ser593=) c.1637C= (p.Ser546=) c.1598C= (p.Ser533=) c.1457C= (p.Ser486=) | dbSNP |