| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113421del | CA16602329 | LDLR | c.1588del (p.Ser530LeufsTer7) c.1330del (p.Ser444LeufsTer7) c.1210del (p.Ser404LeufsTer7) c.1584del c.826del (p.Ser276LeufsTer7) c.1207del (p.Ser403LeufsTer7) c.949del (p.Ser317LeufsTer7) c.51del n.329del c.810del n.1480del n.1447del | ClinVar dbSNP |
| 19 | g.11113421T= | CA2322771796 | LDLR | c.1588T= (p.Ser530=) c.1330T= (p.Ser444=) c.1210T= (p.Ser404=) c.1584T= c.826T= (p.Ser276=) c.1207T= (p.Ser403=) c.949T= (p.Ser317=) c.51T= n.329T= c.810T= n.1480T= n.1447T= | dbSNP dbSNP |