| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69959325C>T | CA16042481 | MITF | c.1018C>T (p.Arg340Ter) c.1015C>T (p.Arg339Ter) n.1240C>T c.991C>T (p.Arg331Ter) c.1084C>T (p.Arg362Ter) c.763C>T (p.Arg255Ter) c.1063C>T (p.Arg355Ter) c.1066C>T (p.Arg356Ter) c.745C>T (p.Arg249Ter) c.1036C>T (p.Arg346Ter) c.910C>T (p.Arg304Ter) c.*410C>T (n.*410C>T) c.577C>T (p.Arg193Ter) c.928C>T (p.Arg310Ter) c.1081C>T (p.Arg361Ter) c.1033C>T (p.Arg345Ter) c.916C>T (p.Arg306Ter) c.898C>T (p.Arg300Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.69959325C>G | CA353561989 | MITF | c.1018C>G (p.Arg340Gly) c.1015C>G (p.Arg339Gly) n.1240C>G c.991C>G (p.Arg331Gly) c.1084C>G (p.Arg362Gly) c.763C>G (p.Arg255Gly) c.1063C>G (p.Arg355Gly) c.1066C>G (p.Arg356Gly) c.745C>G (p.Arg249Gly) c.1036C>G (p.Arg346Gly) c.910C>G (p.Arg304Gly) c.*410C>G (n.*410C>G) c.577C>G (p.Arg193Gly) c.928C>G (p.Arg310Gly) c.1081C>G (p.Arg361Gly) c.1033C>G (p.Arg345Gly) c.916C>G (p.Arg306Gly) c.898C>G (p.Arg300Gly) | dbSNP |