| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113417C>G | CA10585405 | LDLR | c.1584C>G (p.Tyr528Ter) c.1326C>G (p.Tyr442Ter) c.1206C>G (p.Tyr402Ter) c.1580C>G c.822C>G (p.Tyr274Ter) c.1203C>G (p.Tyr401Ter) c.945C>G (p.Tyr315Ter) c.47C>G n.325C>G c.806C>G n.1476C>G n.1443C>G | ClinVar dbSNP |
| 19 | g.11113417C>T | CA305300076 | LDLR | c.1584C>T (p.Tyr528=) c.1326C>T (p.Tyr442=) c.1206C>T (p.Tyr402=) c.1580C>T c.822C>T (p.Tyr274=) c.1203C>T (p.Tyr401=) c.945C>T (p.Tyr315=) c.47C>T n.325C>T c.806C>T n.1476C>T n.1443C>T | ClinVar dbSNP |