| 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 |
| 19 | g.11113708T= | CA2322772021 | LDLR | c.1790T= (p.Leu597=) c.1532T= (p.Leu511=) c.1412T= (p.Leu471=) c.1786T= c.1028T= (p.Leu343=) c.1409T= (p.Leu470=) c.1151T= (p.Leu384=) c.253T= n.1682T= n.1649T= | dbSNP |