| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69941273C>G | CA10576632 | MITF | c.656C>G (p.Ser219Ter) c.653C>G (p.Ser218Ter) n.878C>G c.629C>G (p.Ser210Ter) c.704C>G (p.Ser235Ter) c.383C>G (p.Ser128Ter) c.701C>G (p.Ser234Ter) c.380C>G (p.Ser127Ter) n.694C>G c.548C>G (p.Ser183Ter) c.*30C>G (n.*30C>G) c.215C>G (p.Ser72Ter) c.536C>G (p.Ser179Ter) | ClinVar dbSNP |
| 3 | g.69941273C>T | CA353561097 | MITF | c.656C>T (p.Ser219Leu) c.653C>T (p.Ser218Leu) n.878C>T c.629C>T (p.Ser210Leu) c.704C>T (p.Ser235Leu) c.383C>T (p.Ser128Leu) c.701C>T (p.Ser234Leu) c.380C>T (p.Ser127Leu) n.694C>T c.548C>T (p.Ser183Leu) c.*30C>T (n.*30C>T) c.215C>T (p.Ser72Leu) c.536C>T (p.Ser179Leu) | dbSNP gnomAD v4 |
| 3 | g.69941273C= | CA1373433859 | MITF | c.656C= (p.Ser219=) c.653C= (p.Ser218=) n.878C= c.629C= (p.Ser210=) c.704C= (p.Ser235=) c.383C= (p.Ser128=) c.701C= (p.Ser234=) c.380C= (p.Ser127=) n.694C= c.548C= (p.Ser183=) c.*30C= (n.*30C=) c.215C= (p.Ser72=) c.536C= (p.Ser179=) | dbSNP |