| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69959370C>A | CA434307118 | MITF | c.1063C>A (p.Arg355=) c.1060C>A (p.Arg354=) n.1285C>A c.1036C>A (p.Arg346=) c.1129C>A (p.Arg377=) c.808C>A (p.Arg270=) c.1108C>A (p.Arg370=) c.1111C>A (p.Arg371=) c.790C>A (p.Arg264=) c.1081C>A (p.Arg361=) c.955C>A (p.Arg319=) c.*455C>A (n.*455C>A) c.622C>A (p.Arg208=) c.973C>A (p.Arg325=) c.1126C>A (p.Arg376=) c.1078C>A (p.Arg360=) c.961C>A (p.Arg321=) c.943C>A (p.Arg315=) | dbSNP |
| 3 | g.69959370C>T | CA10576634 | MITF | c.1063C>T (p.Arg355Ter) c.1060C>T (p.Arg354Ter) n.1285C>T c.1036C>T (p.Arg346Ter) c.1129C>T (p.Arg377Ter) c.808C>T (p.Arg270Ter) c.1108C>T (p.Arg370Ter) c.1111C>T (p.Arg371Ter) c.790C>T (p.Arg264Ter) c.1081C>T (p.Arg361Ter) c.955C>T (p.Arg319Ter) c.*455C>T (n.*455C>T) c.622C>T (p.Arg208Ter) c.973C>T (p.Arg325Ter) c.1126C>T (p.Arg376Ter) c.1078C>T (p.Arg360Ter) c.961C>T (p.Arg321Ter) c.943C>T (p.Arg315Ter) | ClinVar dbSNP |
| 3 | g.69959370C>G | CA353562084 | MITF | c.1063C>G (p.Arg355Gly) c.1060C>G (p.Arg354Gly) n.1285C>G c.1036C>G (p.Arg346Gly) c.1129C>G (p.Arg377Gly) c.808C>G (p.Arg270Gly) c.1108C>G (p.Arg370Gly) c.1111C>G (p.Arg371Gly) c.790C>G (p.Arg264Gly) c.1081C>G (p.Arg361Gly) c.955C>G (p.Arg319Gly) c.*455C>G (n.*455C>G) c.622C>G (p.Arg208Gly) c.973C>G (p.Arg325Gly) c.1126C>G (p.Arg376Gly) c.1078C>G (p.Arg360Gly) c.961C>G (p.Arg321Gly) c.943C>G (p.Arg315Gly) | dbSNP |