| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11129562G>A | CA023668 | LDLR | c.2697G>A (p.Trp899Ter) c.*508G>A (n.*508G>A) c.2319G>A (p.Trp773Ter) c.2439G>A (p.Trp813Ter) c.2693G>A c.1935G>A (p.Trp645Ter) c.2316G>A (p.Trp772Ter) c.1905G>A (p.Trp635Ter) c.2501G>A (p.Gly834Asp) n.108+1908G>A c.2361G>A (p.Trp787Ter) c.2058G>A (p.Trp686Ter) n.2449G>A n.2773G>A n.2416G>A | ClinVar dbSNP |
| 19 | g.11129562G= | CA2322780278 | LDLR | c.2697G= (p.Trp899=) c.*508G= (n.*508G=) c.2319G= (p.Trp773=) c.2439G= (p.Trp813=) c.2693G= c.1935G= (p.Trp645=) c.2316G= (p.Trp772=) c.1905G= (p.Trp635=) c.2501G= (p.Gly834=) n.108+1908G= c.2361G= (p.Trp787=) c.2058G= (p.Trp686=) n.2449G= n.2773G= n.2416G= | dbSNP |