| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11129561G>A | CA10585866 | LDLR | c.2696G>A (p.Trp899Ter) c.*507G>A (n.*507G>A) c.2318G>A (p.Trp773Ter) c.2438G>A (p.Trp813Ter) c.2692G>A c.1934G>A (p.Trp645Ter) c.2315G>A (p.Trp772Ter) c.1904G>A (p.Trp635Ter) c.2500G>A (p.Gly834Ser) n.108+1907G>A c.2360G>A (p.Trp787Ter) c.2057G>A (p.Trp686Ter) n.2448G>A n.2772G>A n.2415G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11129561G= | CA2322780277 | LDLR | c.2696G= (p.Trp899=) c.*507G= (n.*507G=) c.2318G= (p.Trp773=) c.2438G= (p.Trp813=) c.2692G= c.1934G= (p.Trp645=) c.2315G= (p.Trp772=) c.1904G= (p.Trp635=) c.2500G= (p.Gly834=) n.108+1907G= c.2360G= (p.Trp787=) c.2057G= (p.Trp686=) n.2448G= n.2772G= n.2415G= | dbSNP |