| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69959310T>C | CA123830 | MITF | c.1003T>C (p.Ser335Pro) c.1000T>C (p.Ser334Pro) n.1225T>C c.976T>C (p.Ser326Pro) c.1069T>C (p.Ser357Pro) c.748T>C (p.Ser250Pro) c.1048T>C (p.Ser350Pro) c.1051T>C (p.Ser351Pro) c.730T>C (p.Ser244Pro) c.1021T>C (p.Ser341Pro) c.895T>C (p.Ser299Pro) c.*395T>C (n.*395T>C) c.562T>C (p.Ser188Pro) c.913T>C (p.Ser305Pro) c.1066T>C (p.Ser356Pro) c.1018T>C (p.Ser340Pro) c.901T>C (p.Ser301Pro) c.883T>C (p.Ser295Pro) | ClinVar dbSNP |
| 3 | g.69959310T= | CA1373450874 | MITF | c.1003T= (p.Ser335=) c.1000T= (p.Ser334=) n.1225T= c.976T= (p.Ser326=) c.1069T= (p.Ser357=) c.748T= (p.Ser250=) c.1048T= (p.Ser350=) c.1051T= (p.Ser351=) c.730T= (p.Ser244=) c.1021T= (p.Ser341=) c.895T= (p.Ser299=) c.*395T= (n.*395T=) c.562T= (p.Ser188=) c.913T= (p.Ser305=) c.1066T= (p.Ser356=) c.1018T= (p.Ser340=) c.901T= (p.Ser301=) c.883T= (p.Ser295=) | dbSNP |