| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105370G>T | CA10584934 | LDLR | c.722G>T (p.Cys241Phe) c.464G>T (p.Cys155Phe) c.718G>T c.314-2022G>T (n.314-2022G>T) c.341G>T (p.Cys114Phe) c.314-1195G>T (n.314-1195G>T) c.64G>T n.614G>T n.581G>T | ClinVar dbSNP |
| 19 | g.11105370G>A | CA10584933 | LDLR | c.722G>A (p.Cys241Tyr) c.464G>A (p.Cys155Tyr) c.718G>A c.314-2022G>A (n.314-2022G>A) c.341G>A (p.Cys114Tyr) c.314-1195G>A (n.314-1195G>A) c.64G>A n.614G>A n.581G>A | ClinVar dbSNP |