| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69956460C>T | CA123834 | MITF | c.895C>T (p.Arg299Ter) c.892C>T (p.Arg298Ter) n.1117C>T c.868C>T (p.Arg290Ter) c.961C>T (p.Arg321Ter) c.640C>T (p.Arg214Ter) c.940C>T (p.Arg314Ter) c.943C>T (p.Arg315Ter) c.622C>T (p.Arg208Ter) c.913C>T (p.Arg305Ter) c.787C>T (p.Arg263Ter) c.*287C>T (n.*287C>T) c.454C>T (p.Arg152Ter) c.805C>T (p.Arg269Ter) c.958C>T (p.Arg320Ter) c.910C>T (p.Arg304Ter) c.793C>T (p.Arg265Ter) c.775C>T (p.Arg259Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69956460C= | CA1373447499 | MITF | c.895C= (p.Arg299=) c.892C= (p.Arg298=) n.1117C= c.868C= (p.Arg290=) c.961C= (p.Arg321=) c.640C= (p.Arg214=) c.940C= (p.Arg314=) c.943C= (p.Arg315=) c.622C= (p.Arg208=) c.913C= (p.Arg305=) c.787C= (p.Arg263=) c.*287C= (n.*287C=) c.454C= (p.Arg152=) c.805C= (p.Arg269=) c.958C= (p.Arg320=) c.910C= (p.Arg304=) c.793C= (p.Arg265=) c.775C= (p.Arg259=) | dbSNP |