| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69951870G>C | CA16044010 | MITF | c.873G>C (p.Lys291Asn) c.870G>C (p.Lys290Asn) n.1095G>C c.846G>C (p.Lys282Asn) c.939G>C (p.Lys313Asn) c.618G>C (p.Lys206Asn) c.918G>C (p.Lys306Asn) c.921G>C (p.Lys307Asn) c.600G>C (p.Lys200Asn) c.891G>C (p.Lys297Asn) c.765G>C (p.Lys255Asn) c.*265G>C (n.*265G>C) c.432G>C (p.Lys144Asn) c.783G>C (p.Lys261Asn) c.936G>C (p.Lys312Asn) c.888G>C (p.Lys296Asn) c.771G>C (p.Lys257Asn) c.753G>C (p.Lys251Asn) | ClinVar dbSNP |
| 3 | g.69951870G= | CA1373443565 | MITF | c.873G= (p.Lys291=) c.870G= (p.Lys290=) n.1095G= c.846G= (p.Lys282=) c.939G= (p.Lys313=) c.618G= (p.Lys206=) c.918G= (p.Lys306=) c.921G= (p.Lys307=) c.600G= (p.Lys200=) c.891G= (p.Lys297=) c.765G= (p.Lys255=) c.*265G= (n.*265G=) c.432G= (p.Lys144=) c.783G= (p.Lys261=) c.936G= (p.Lys312=) c.888G= (p.Lys296=) c.771G= (p.Lys257=) c.753G= (p.Lys251=) | dbSNP |