| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 3-134322763-G-A | KY | c.1644C>T | p.Tyr548Tyr | Synonymous | 11/11 | - |
| 8-133899261-T-C | TG | c.1644T>C | p.Thr548Thr | Synonymous | 9/48 | - |
| 9-12693735-G-A | TYRP1 | c.1-262G>A | - | IntronicSNV | - | 1/7 |
| 16-89985561-C-T | MC1R | c.1-106C>T | - | 5-UTRSNV | 1/1 | - |
| 16-89986308-C-G | MC1R | c.642C>G | p.Ala214Ala | Synonymous | 1/1 | - |
| 4-55565839-T-C | KIT | c.663T>C | p.Tyr221Tyr | Synonymous | 4/21 | - |
| 16-89985962-T-C | MC1R | c.296T>C | p.Leu99Pro | Missense | 1/1 | - |
| 8-133899516-C-A | TG | c.1899C>A | p.Ser633Ser | Synonymous | 9/48 | - |
| 4-55561787-T-C | KIT | c.177T>C | p.Thr59Thr | Synonymous | 2/21 | - |
| 4-55561787-T-A | KIT | c.177T>A | p.Thr59Thr | Synonymous | 2/21 | - |
| 4-55561787-T-G | KIT | c.177T>G | p.Thr59Thr | Synonymous | 2/21 | - |
| 16-89986041-C-T | MC1R | c.375C>T | p.Cys125Cys | Synonymous | 1/1 | - |
| 12-56355416-G-A | PMEL | c.177C>T | p.Asp59Asp | Synonymous | 3/12 | - |
| 16-89986537-G-A | MC1R | c.871G>A | p.Ala291Thr | Missense | 1/1 | - |
| 4-55564696-T-C | KIT | c.584T>C | p.Val195Ala | Missense | 3/21 | - |
| 16-89986006-C-A | MC1R | c.340C>A | p.Gln114Lys | Missense | 1/1 | - |
| 16-89985977-GG-G | MC1R | c.311delG | p.Gly104Valfs*19 | Frameshift | 1/1 | - |
| 4-55604714-C-T | KIT | c.2922C>T | p.Asp974Asp | Synonymous | 21/21 | - |