| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113708T>G | CA10585494 | LDLR | c.1790T>G (p.Leu597Ter) c.1532T>G (p.Leu511Ter) c.1412T>G (p.Leu471Ter) c.1786T>G c.1028T>G (p.Leu343Ter) c.1409T>G (p.Leu470Ter) c.1151T>G (p.Leu384Ter) c.253T>G n.1682T>G n.1649T>G | ClinVar dbSNP |
| 19 | g.11113708T>C | CA10585493 | LDLR | c.1790T>C (p.Leu597Ser) c.1532T>C (p.Leu511Ser) c.1412T>C (p.Leu471Ser) c.1786T>C c.1028T>C (p.Leu343Ser) c.1409T>C (p.Leu470Ser) c.1151T>C (p.Leu384Ser) c.253T>C n.1682T>C n.1649T>C | ClinVar dbSNP |