| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 15-28230318-C-T | OCA2 | c.1256G>A | p.Arg419Gln | Missense | 13/24 | - |
| 6-396321-C-T | IRF4 | c.492+386C>T | - | IntronicSNV | - | 4/8 |
| 5-33958959-C-A | SLC45A2 | c.889-4350G>T | - | IntronicSNV | - | 3/6 |
| 16-89986091-G-A | MC1R | c.425G>A | p.Arg142His | Missense | 1/1 | - |
| 15-48426484-A-G | SLC24A5 | c.331A>G | p.Thr111Ala | Missense | 3/9 | - |
| 20-32665748-A-G | RALY | c.829-563A>G | - | IntronicSNV | - | 7/8 |
| 16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
| 9-139356987-T-C | SEC16A | c.4893+352A>G | - | IntronicSNV | - | 12/31 |
| 15-48426484-A-T | SLC24A5 | c.331A>T | p.Thr111Ser | Missense | 3/9 | - |
| 18-61328340-TGC-TTT | SERPINB3 | c.109_111delGCAinsTTT | p.Ala37Phe | Missense | 2/8 | - |
| 5-33951693-C-G | SLC45A2 | c.1122G>C | p.Leu374Phe | Missense | 5/7 | - |
| 16-89984378-C-T | MC1R | c.1-1289C>T | - | 5-UTRSNV | 1/1 | - |
| 16-90026512-T-C | DEF8 | c.698-827T>C | - | IntronicSNV | - | 6/12 |
| 15-28410491-C-T | HERC2 | c.10555-2060G>A | - | IntronicSNV | - | 68/92 |
| 15-28365618-A-G | HERC2 | c.13272+874T>C | - | IntronicSNV | - | 86/92 |
| 5-33946571-A-G | SLC45A2 | c.1368+697T>C | - | IntronicSNV | - | 6/6 |
| 9-12709305-C-A | TYRP1 | c.*123C>A | - | 3-UTRSNV | 8/8 | - |
| 5-33946571-A-C | SLC45A2 | c.1368+697T>G | - | IntronicSNV | - | 6/6 |
| 16-89985997-G-A | MC1R | c.331G>A | p.Ala111Thr | Missense | 1/1 | - |
| 5-33951693-C-A | SLC45A2 | c.1122G>T | p.Leu374Phe | Missense | 5/7 | - |
| 16-90024206-A-G | DEF8 | c.555+138A>G | - | IntronicSNV | - | 5/12 |
| 16-89986117-C-A | MC1R | c.451C>A | p.Arg151Ser | 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 | - |
| 16-89986117-C-G | MC1R | c.451C>G | p.Arg151Gly | Missense | 1/1 | - |
| 16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |
| 11-89017961-G-A | TYR | c.1205G>A | p.Arg402Gln | Missense | 4/5 | - |
| 15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
| 15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
| 16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |