| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113388G>T | CA10585391 | LDLR | c.1555G>T (p.Asp519Tyr) c.1297G>T (p.Asp433Tyr) c.1177G>T (p.Asp393Tyr) c.1551G>T c.793G>T (p.Asp265Tyr) c.1174G>T (p.Asp392Tyr) c.916G>T (p.Asp306Tyr) c.18G>T n.296G>T c.777G>T n.1447G>T n.1414G>T | ClinVar dbSNP |
| 19 | g.11113388G>C | CA023450 | LDLR | c.1555G>C (p.Asp519His) c.1297G>C (p.Asp433His) c.1177G>C (p.Asp393His) c.1551G>C c.793G>C (p.Asp265His) c.1174G>C (p.Asp392His) c.916G>C (p.Asp306His) c.18G>C n.296G>C c.777G>C n.1447G>C n.1414G>C | ClinVar dbSNP |