| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113420G>C | CA10585409 | LDLR | c.1587G>C (p.Trp529Cys) c.1329G>C (p.Trp443Cys) c.1209G>C (p.Trp403Cys) c.1583G>C c.825G>C (p.Trp275Cys) c.1206G>C (p.Trp402Cys) c.948G>C (p.Trp316Cys) c.50G>C n.328G>C c.809G>C n.1479G>C n.1446G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11113420G>A | CA10585408 | LDLR | c.1587G>A (p.Trp529Ter) c.1329G>A (p.Trp443Ter) c.1209G>A (p.Trp403Ter) c.1583G>A c.825G>A (p.Trp275Ter) c.1206G>A (p.Trp402Ter) c.948G>A (p.Trp316Ter) c.50G>A n.328G>A c.809G>A n.1479G>A n.1446G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113420G>T | CA10585410 | LDLR | c.1587G>T (p.Trp529Cys) c.1329G>T (p.Trp443Cys) c.1209G>T (p.Trp403Cys) c.1583G>T c.825G>T (p.Trp275Cys) c.1206G>T (p.Trp402Cys) c.948G>T (p.Trp316Cys) c.50G>T n.328G>T c.809G>T n.1479G>T n.1446G>T | ClinVar dbSNP gnomAD v4 |