| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11106652G>A | CA16602315 | LDLR | c.1040G>A (p.Cys347Tyr) c.782G>A (p.Cys261Tyr) c.1036G>A c.314-740G>A (n.314-740G>A) c.659G>A (p.Cys220Tyr) c.401G>A (p.Cys134Tyr) n.297G>A c.382G>A n.932G>A n.899G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11106652G>T | CA023761 | LDLR | c.1040G>T (p.Cys347Phe) c.782G>T (p.Cys261Phe) c.1036G>T c.314-740G>T (n.314-740G>T) c.659G>T (p.Cys220Phe) c.401G>T (p.Cys134Phe) n.297G>T c.382G>T n.932G>T n.899G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11106652G= | CA2322768199 | LDLR | c.1040G= (p.Cys347=) c.782G= (p.Cys261=) c.1036G= c.314-740G= (n.314-740G=) c.659G= (p.Cys220=) c.401G= (p.Cys134=) n.297G= c.382G= n.932G= n.899G= | dbSNP |