| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105583C>G | CA10585075 | LDLR | c.935C>G (p.Ser312Cys) c.677C>G (p.Ser226Cys) c.931C>G c.314-1809C>G (n.314-1809C>G) c.554C>G (p.Ser185Cys) c.314-982C>G (n.314-982C>G) c.277C>G n.827C>G n.794C>G | ClinVar dbSNP |
| 19 | g.11105583C>A | CA305296962 | LDLR | c.935C>A (p.Ser312Tyr) c.677C>A (p.Ser226Tyr) c.931C>A c.314-1809C>A (n.314-1809C>A) c.554C>A (p.Ser185Tyr) c.314-982C>A (n.314-982C>A) c.277C>A n.827C>A n.794C>A | dbSNP |