| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105456T>C | CA10584984 | LDLR | c.808T>C (p.Cys270Arg) c.550T>C (p.Cys184Arg) c.804T>C c.314-1936T>C (n.314-1936T>C) c.427T>C (p.Cys143Arg) c.314-1109T>C (n.314-1109T>C) c.150T>C n.700T>C n.667T>C | ClinVar dbSNP |
| 19 | g.11105456T= | CA2322767481 | LDLR | c.808T= (p.Cys270=) c.550T= (p.Cys184=) c.804T= c.314-1936T= (n.314-1936T=) c.427T= (p.Cys143=) c.314-1109T= (n.314-1109T=) c.150T= n.700T= n.667T= | dbSNP |