| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105537C>G | CA10585024 | LDLR | c.889C>G (p.His297Asp) c.631C>G (p.His211Asp) c.885C>G c.314-1855C>G (n.314-1855C>G) c.508C>G (p.His170Asp) c.314-1028C>G (n.314-1028C>G) c.231C>G n.781C>G n.748C>G | ClinVar dbSNP |
| 19 | g.11105537C>T | CA044139 | LDLR | c.889C>T (p.His297Tyr) c.631C>T (p.His211Tyr) c.885C>T c.314-1855C>T (n.314-1855C>T) c.508C>T (p.His170Tyr) c.314-1028C>T (n.314-1028C>T) c.231C>T n.781C>T n.748C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11105537C= | CA2322767557 | LDLR | c.889C= (p.His297=) c.631C= (p.His211=) c.885C= c.314-1855C= (n.314-1855C=) c.508C= (p.His170=) c.314-1028C= (n.314-1028C=) c.231C= n.781C= n.748C= | dbSNP |