| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6426684A>G | CA227892 | AIPL1 | c.715T>C (p.Cys239Arg) c.526T>C (p.Cys176Arg) c.*587T>C (n.*587T>C) c.649T>C (p.Cys217Arg) c.251+7235T>C c.691T>C (p.Cys231Arg) c.679T>C (p.Cys227Arg) c.535T>C (p.Cys179Arg) c.643T>C (p.Cys215Arg) c.598T>C (p.Cys200Arg) | ClinVar dbSNP |
| 17 | g.6426684A= | CA2245347665 | AIPL1 | c.715T= (p.Cys239=) c.526T= (p.Cys176=) c.*587T= (n.*587T=) c.649T= (p.Cys217=) c.251+7235T= c.691T= (p.Cys231=) c.679T= (p.Cys227=) c.535T= (p.Cys179=) c.643T= (p.Cys215=) c.598T= (p.Cys200=) | dbSNP |