| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113347A>G | CA16602327 | LDLR | c.1514A>G (p.Tyr505Cys) c.1256A>G (p.Tyr419Cys) c.1136A>G (p.Tyr379Cys) c.1510A>G c.752A>G (p.Tyr251Cys) c.1133A>G (p.Tyr378Cys) c.875A>G (p.Tyr292Cys) n.255A>G c.736A>G n.1406A>G n.1373A>G | ClinVar dbSNP |
| 19 | g.11113347A= | CA2322771734 | LDLR | c.1514A= (p.Tyr505=) c.1256A= (p.Tyr419=) c.1136A= (p.Tyr379=) c.1510A= c.752A= (p.Tyr251=) c.1133A= (p.Tyr378=) c.875A= (p.Tyr292=) n.255A= c.736A= n.1406A= n.1373A= | dbSNP |