| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-89985931-G-A | MC1R | c.265G>A | p.Gly89Arg | Missense | 1/1 | - |
| 16-89986133-T-C | MC1R | c.467T>C | p.Val156Ala | Missense | 1/1 | - |
| 16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
| 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 | - |
| 16-89986170-C-G | MC1R | c.504C>G | p.Ile168Met | Missense | 1/1 | - |
| 16-89986132-G-C | MC1R | c.466G>C | p.Val156Leu | Missense | 1/1 | - |
| 16-89986029-C-G | MC1R | c.363C>G | p.Asp121Glu | Missense | 1/1 | - |
| 16-89986154-G-A | MC1R | c.488G>A | p.Arg163Gln | Missense | 1/1 | - |
| 16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |
| 15-28277272-A-G | OCA2 | c.265T>C | p.Ser89Pro | Missense | 3/24 | - |
| 16-89985931-G-C | MC1R | c.265G>C | p.Gly89Arg | Missense | 1/1 | - |
| 16-89986122-C-A | MC1R | c.456C>A | p.Tyr152* | Nonsense | 1/1 | - |
| 16-89986333-C-T | MC1R | c.667C>T | p.Arg223Trp | Missense | 1/1 | - |
| 16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |
| 16-89986111-G-A | MC1R | c.445G>A | p.Ala149Thr | Missense | 1/1 | - |
| 16-89986030-G-A | MC1R | c.364G>A | p.Val122Met | Missense | 1/1 | - |
| 16-89986583-G-A | MC1R | c.917G>A | p.Arg306His | Missense | 1/1 | - |
| 16-89985914-C-T | MC1R | c.248C>T | p.Ser83Leu | Missense | 1/1 | - |
| 16-89986091-G-A | MC1R | c.425G>A | p.Arg142His | Missense | 1/1 | - |
| 16-89985913-T-C | MC1R | c.247T>C | p.Ser83Pro | Missense | 1/1 | - |
| 16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |