| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11129654G>A | CA023681 | LDLR | c.2789G>A (p.Gly930Asp) c.*600G>A (n.*600G>A) c.2411G>A (p.Gly804Asp) c.2531G>A (p.Gly844Asp) c.2785G>A c.2027G>A (p.Gly676Asp) c.2408G>A (p.Gly803Asp) c.1997G>A (p.Gly666Asp) c.2593G>A (p.Ala865Thr) n.108+2000G>A c.2453G>A (p.Gly818Asp) c.2150G>A (p.Gly717Asp) n.2865G>A n.2508G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11129654G= | CA2322780325 | LDLR | c.2789G= (p.Gly930=) c.*600G= (n.*600G=) c.2411G= (p.Gly804=) c.2531G= (p.Gly844=) c.2785G= c.2027G= (p.Gly676=) c.2408G= (p.Gly803=) c.1997G= (p.Gly666=) c.2593G= (p.Ala865=) n.108+2000G= c.2453G= (p.Gly818=) c.2150G= (p.Gly717=) n.2865G= n.2508G= | dbSNP |