| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113705del | CA16602331 | LDLR | c.1787del (p.Thr596SerfsTer?) c.1529del (p.Thr510SerfsTer?) c.1409del (p.Thr470SerfsTer?) c.1783del c.1025del (p.Thr342SerfsTer?) c.1406del (p.Thr469SerfsTer?) c.1148del (p.Thr383SerfsTer?) c.250del n.1679del n.1646del | ClinVar dbSNP |
| 19 | g.11113705C= | CA2322772018 | LDLR | c.1787C= (p.Thr596=) c.1529C= (p.Thr510=) c.1409C= (p.Thr470=) c.1783C= c.1025C= (p.Thr342=) c.1406C= (p.Thr469=) c.1148C= (p.Thr383=) c.250C= n.1679C= n.1646C= | dbSNP dbSNP |