| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105535T>C | CA16602303 | LDLR | c.887T>C (p.Ile296Thr) c.629T>C (p.Ile210Thr) c.883T>C c.314-1857T>C (n.314-1857T>C) c.506T>C (p.Ile169Thr) c.314-1030T>C (n.314-1030T>C) c.229T>C n.779T>C n.746T>C | ClinVar dbSNP |
| 19 | g.11105535T>A | CA10585023 | LDLR | c.887T>A (p.Ile296Asn) c.629T>A (p.Ile210Asn) c.883T>A c.314-1857T>A (n.314-1857T>A) c.506T>A (p.Ile169Asn) c.314-1030T>A (n.314-1030T>A) c.229T>A n.779T>A n.746T>A | ClinVar dbSNP |
| 19 | g.11105535T= | CA2322767554 | LDLR | c.887T= (p.Ile296=) c.629T= (p.Ile210=) c.883T= c.314-1857T= (n.314-1857T=) c.506T= (p.Ile169=) c.314-1030T= (n.314-1030T=) c.229T= n.779T= n.746T= | dbSNP |