| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105326G>T | CA10584914 | LDLR | c.678G>T (p.Glu226Asp) c.420G>T (p.Glu140Asp) c.674G>T c.314-2066G>T (n.314-2066G>T) c.297G>T (p.Glu99Asp) c.314-1239G>T (n.314-1239G>T) c.20G>T n.570G>T n.537G>T | ClinVar dbSNP |
| 19 | g.11105326G>C | CA10584913 | LDLR | c.678G>C (p.Glu226Asp) c.420G>C (p.Glu140Asp) c.674G>C c.314-2066G>C (n.314-2066G>C) c.297G>C (p.Glu99Asp) c.314-1239G>C (n.314-1239G>C) c.20G>C n.570G>C n.537G>C | ClinVar dbSNP |