| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11129554A>T | CA10585865 | LDLR | c.2689A>T (p.Lys897Ter) c.*500A>T (n.*500A>T) c.2311A>T (p.Lys771Ter) c.2431A>T (p.Lys811Ter) c.2685A>T c.1927A>T (p.Lys643Ter) c.2308A>T (p.Lys770Ter) c.1897A>T (p.Lys633Ter) c.2493A>T (p.Gly831=) n.108+1900A>T c.2353A>T (p.Lys785Ter) c.2050A>T (p.Lys684Ter) n.2441A>T n.2765A>T n.2408A>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11129554A= | CA2322780276 | LDLR | c.2689A= (p.Lys897=) c.*500A= (n.*500A=) c.2311A= (p.Lys771=) c.2431A= (p.Lys811=) c.2685A= c.1927A= (p.Lys643=) c.2308A= (p.Lys770=) c.1897A= (p.Lys633=) c.2493A= (p.Gly831=) n.108+1900A= c.2353A= (p.Lys785=) c.2050A= (p.Lys684=) n.2441A= n.2765A= n.2408A= | dbSNP |