| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69956469A>G | CA16044011 | MITF | c.904A>G (p.Arg302Gly) c.901A>G (p.Arg301Gly) n.1126A>G c.877A>G (p.Arg293Gly) c.970A>G (p.Arg324Gly) c.649A>G (p.Arg217Gly) c.949A>G (p.Arg317Gly) c.952A>G (p.Arg318Gly) c.631A>G (p.Arg211Gly) c.922A>G (p.Arg308Gly) c.796A>G (p.Arg266Gly) c.*296A>G (n.*296A>G) c.463A>G (p.Arg155Gly) c.814A>G (p.Arg272Gly) c.967A>G (p.Arg323Gly) c.919A>G (p.Arg307Gly) c.802A>G (p.Arg268Gly) c.784A>G (p.Arg262Gly) | ClinVar dbSNP |
| 3 | g.69956469A= | CA1373447759 | MITF | c.904A= (p.Arg302=) c.901A= (p.Arg301=) n.1126A= c.877A= (p.Arg293=) c.970A= (p.Arg324=) c.649A= (p.Arg217=) c.949A= (p.Arg317=) c.952A= (p.Arg318=) c.631A= (p.Arg211=) c.922A= (p.Arg308=) c.796A= (p.Arg266=) c.*296A= (n.*296A=) c.463A= (p.Arg155=) c.814A= (p.Arg272=) c.967A= (p.Arg323=) c.919A= (p.Arg307=) c.802A= (p.Arg268=) c.784A= (p.Arg262=) | dbSNP |