| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69949082A>G | CA16043400 | MITF | c.746A>G (p.Tyr249Cys) c.743A>G (p.Tyr248Cys) n.968A>G c.719A>G (p.Tyr240Cys) c.794A>G (p.Tyr265Cys) c.473A>G (p.Tyr158Cys) c.791A>G (p.Tyr264Cys) c.470A>G (p.Tyr157Cys) c.638A>G (p.Tyr213Cys) c.*120A>G (n.*120A>G) c.305A>G (p.Tyr102Cys) c.626A>G (p.Tyr209Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949082A>T | CA353561308 | MITF | c.746A>T (p.Tyr249Phe) c.743A>T (p.Tyr248Phe) n.968A>T c.719A>T (p.Tyr240Phe) c.794A>T (p.Tyr265Phe) c.473A>T (p.Tyr158Phe) c.791A>T (p.Tyr264Phe) c.470A>T (p.Tyr157Phe) c.638A>T (p.Tyr213Phe) c.*120A>T (n.*120A>T) c.305A>T (p.Tyr102Phe) c.626A>T (p.Tyr209Phe) | dbSNP gnomAD v4 |
| 3 | g.69949082A= | CA1373440645 | MITF | c.746A= (p.Tyr249=) c.743A= (p.Tyr248=) n.968A= c.719A= (p.Tyr240=) c.794A= (p.Tyr265=) c.473A= (p.Tyr158=) c.791A= (p.Tyr264=) c.470A= (p.Tyr157=) c.638A= (p.Tyr213=) c.*120A= (n.*120A=) c.305A= (p.Tyr102=) c.626A= (p.Tyr209=) | dbSNP |