| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113654del | CA16602330 | LDLR | c.1736del (p.Ser579LeufsTer14) c.1478del (p.Ser493LeufsTer14) c.1358del (p.Ser453LeufsTer14) c.1732del c.974del (p.Ser325LeufsTer14) c.1355del (p.Ser452LeufsTer14) c.1097del (p.Ser366LeufsTer14) c.199del n.1628del n.1595del | ClinVar dbSNP |
| 19 | g.11113654C= | CA2322771974 | LDLR | c.1736C= (p.Ser579=) c.1478C= (p.Ser493=) c.1358C= (p.Ser453=) c.1732C= c.974C= (p.Ser325=) c.1355C= (p.Ser452=) c.1097C= (p.Ser366=) c.199C= n.1628C= n.1595C= | dbSNP dbSNP |