| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-89986583-G-A | MC1R | c.917G>A | p.Arg306His | Missense | 1/1 | - |
| 16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |
| 16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
| 16-89986091-G-A | MC1R | c.425G>A | p.Arg142His | Missense | 1/1 | - |
| 16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |
| 17-79612397-A-T | TSPAN10 | c.416A>T | p.Tyr139Phe | Missense | 2/4 | - |
| 16-89985913-T-C | MC1R | c.247T>C | p.Ser83Pro | Missense | 1/1 | - |
| 20-32665748-A-G | RALY | c.829-563A>G | - | IntronicSNV | - | 7/8 |
| 16-89986546-G-C | MC1R | c.880G>C | p.Asp294His | Missense | 1/1 | - |
| 16-89985950-C-T | MC1R | c.284C>T | p.Thr95Met | Missense | 1/1 | - |
| 16-89986303-C-T | MC1R | c.637C>T | p.Arg213Trp | Missense | 1/1 | - |
| 16-89985940-G-A | MC1R | c.274G>A | p.Val92Met | Missense | 1/1 | - |
| 16-89986154-G-A | MC1R | c.488G>A | p.Arg163Gln | Missense | 1/1 | - |
| 16-89986144-C-T | MC1R | c.478C>T | p.Arg160Trp | Missense | 1/1 | - |
| 16-89986117-C-T | MC1R | c.451C>T | p.Arg151Cys | Missense | 1/1 | - |
| 9-12695672-C-CC | TYRP1 | c.543dupC | p.Ile182Hisfs*5 | Frameshift | 3/8 | - |
| 17-79612397-A-G | TSPAN10 | c.416A>G | p.Tyr139Cys | Missense | 2/4 | - |
| 16-89986203-C-CC | MC1R | c.537dupC | p.Ile180Hisfs*59 | Frameshift | 1/1 | - |
| 16-89985131-C-T | MC1R | c.1-536C>T | - | 5-UTRSNV | 1/1 | - |
| 16-89986122-C-A | MC1R | c.456C>A | p.Tyr152* | Nonsense | 1/1 | - |
| 16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |