| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105582T>A | CA404078423 | LDLR | c.934T>A (p.Ser312Thr) c.676T>A (p.Ser226Thr) c.930T>A c.314-1810T>A (n.314-1810T>A) c.553T>A (p.Ser185Thr) c.314-983T>A (n.314-983T>A) c.276T>A n.826T>A n.793T>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11105582T>C | CA10585073 | LDLR | c.934T>C (p.Ser312Pro) c.676T>C (p.Ser226Pro) c.930T>C c.314-1810T>C (n.314-1810T>C) c.553T>C (p.Ser185Pro) c.314-983T>C (n.314-983T>C) c.276T>C n.826T>C n.793T>C | ClinVar dbSNP |
| 19 | g.11105582T= | CA2322767621 | LDLR | c.934T= (p.Ser312=) c.676T= (p.Ser226=) c.930T= c.314-1810T= (n.314-1810T=) c.553T= (p.Ser185=) c.314-983T= (n.314-983T=) c.276T= n.826T= n.793T= | dbSNP |