| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 15-28234769-G-A | OCA2 | c.1160C>T | p.Thr387Met | Missense | 11/24 | - |
| 16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |
| 16-89984604-T-C | MC1R | c.1-1063T>C | - | 5-UTRSNV | 1/1 | - |
| 16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |
| 9-12694273-C-T | TYRP1 | c.277C>T | p.Arg93Cys | Missense | 2/8 | - |
| 11-88911494-G-T | TYR | c.373G>T | p.Asp125Tyr | Missense | 1/5 | - |
| 11-88911494-G-A | TYR | c.373G>A | p.Asp125Asn | Missense | 1/5 | - |
| 5-33954511-T-C | SLC45A2 | c.987A>G | p.Thr329Thr | Synonymous | 4/7 | - |
| 11-68846399-A-C | TPCN2 | c.1450A>C | p.Met484Leu | Missense | 16/25 | - |
| 11-68846399-A-T | TPCN2 | c.1450A>T | p.Met484Leu | Missense | 16/25 | - |
| 13-95092896-T-C | DCT | c.1481-566A>G | - | IntronicSNV | - | 9/9 |
| 5-33948589-T-C | SLC45A2 | c.1157-1110A>G | - | IntronicSNV | - | 5/6 |
| 15-28235773-C-T | OCA2 | c.1065G>A | p.Ala355Ala | Synonymous | 10/24 | - |
| 11-95773435-A-G | MAML2 | c.2140-48548T>C | - | IntronicSNV | - | 2/4 |
| 13-95111509-T-C | DCT | c.1179+836A>G | - | IntronicSNV | - | 6/9 |
| 13-95100841-A-C | DCT | c.1236-2826T>G | - | IntronicSNV | - | 7/9 |
| 13-95100841-A-G | DCT | c.1236-2826T>C | - | IntronicSNV | - | 7/9 |
| 13-95100841-A-T | DCT | c.1236-2826T>A | - | IntronicSNV | - | 7/9 |
| 16-89985940-G-C | MC1R | c.274G>C | p.Val92Leu | Missense | 1/1 | - |
| 16-89985940-G-A | MC1R | c.274G>A | p.Val92Met | Missense | 1/1 | - |
| 6-396321-C-T | IRF4 | c.492+386C>T | - | IntronicSNV | - | 4/8 |
| 15-28283441-A-G | OCA2 | c.228-6132T>C | - | IntronicSNV | - | 2/23 |
| 15-48433494-A-G | MYEF2 | c.*1611T>C | - | 3-UTRSNV | 17/17 | - |
| 15-28197037-T-C | OCA2 | c.1844A>G | p.His615Arg | Missense | 18/24 | - |
| 16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |
| 9-12704725-C-A | TYRP1 | c.1261+20C>A | - | IntronicSNV | - | 6/7 |
| 9-12704725-C-G | TYRP1 | c.1261+20C>G | - | IntronicSNV | - | 6/7 |
| 15-28197037-T-A | OCA2 | c.1844A>T | p.His615Leu | Missense | 18/24 | - |
| 15-28230318-C-T | OCA2 | c.1256G>A | p.Arg419Gln | Missense | 13/24 | - |
| 16-89986091-G-A | MC1R | c.425G>A | p.Arg142His | Missense | 1/1 | - |
| 5-33963870-C-T | SLC45A2 | c.814G>A | p.Glu272Lys | Missense | 3/7 | - |
| 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 | - |
| 5-33951693-C-G | SLC45A2 | c.1122G>C | p.Leu374Phe | Missense | 5/7 | - |
| 16-90022693-T-C | DEF8 | c.405+1019T>C | - | IntronicSNV | - | 4/12 |
| 16-89986546-G-C | MC1R | c.880G>C | p.Asp294His | Missense | 1/1 | - |
| 14-92800004-A-T | SLC24A4 | c.241+7682A>T | - | IntronicSNV | - | 2/16 |
| 13-95096013-T-C | DCT | c.1279-122A>G | - | IntronicSNV | - | 8/9 |
| 5-33944848-T-C | SLC45A2 | c.1498A>G | p.Thr500Ala | Missense | 7/7 | - |
| 11-68855363-G-A | TPCN2 | c.2201G>A | p.Gly734Glu | Missense | 25/25 | - |
| 15-28228553-C-T | OCA2 | c.1441G>A | p.Ala481Thr | Missense | 14/24 | - |
| 15-29261716-C-T | APBA2 | c.-94-26240C>T | - | intron_variant | - | 1/13 |
| 20-33355046-G-A | NCOA6 | c.514+1221C>T | - | IntronicSNV | - | 5/14 |
| 16-89986154-G-A | MC1R | c.488G>A | p.Arg163Gln | Missense | 1/1 | - |
| 16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
| 11-88911696-C-A | TYR | c.575C>A | p.Ser192Tyr | Missense | 1/5 | - |
| 9-12709586-A-T | TYRP1 | c.*404A>T | - | 3-UTRSNV | 8/8 | - |
| 13-95094385-C-T | DCT | c.1480+1305G>A | - | IntronicSNV | - | 9/9 |
| 15-48426484-A-G | SLC24A5 | c.331A>G | p.Thr111Ala | Missense | 3/9 | - |
| 16-89986117-C-T | MC1R | c.451C>T | p.Arg151Cys | Missense | 1/1 | - |
| 16-89986117-C-A | MC1R | c.451C>A | p.Arg151Ser | Missense | 1/1 | - |
| 16-89986117-C-G | MC1R | c.451C>G | p.Arg151Gly | Missense | 1/1 | - |
| 9-12703484-A-G | TYRP1 | c.1082-1042A>G | - | IntronicSNV | - | 5/7 |
| 16-89986144-C-T | MC1R | c.478C>T | p.Arg160Trp | Missense | 1/1 | - |
| 15-28511997-C-T | HERC2 | c.1599-877G>A | - | IntronicSNV | - | 12/92 |
| 5-33950703-A-G | SLC45A2 | c.1156+956T>C | - | IntronicSNV | - | 5/6 |
| 13-95094385-C-A | DCT | c.1480+1305G>T | - | IntronicSNV | - | 9/9 |
| 13-95094385-C-G | DCT | c.1480+1305G>C | - | IntronicSNV | - | 9/9 |
| 13-95096013-T-A | DCT | c.1279-122A>T | - | IntronicSNV | - | 8/9 |
| 15-28230097-C-T | OCA2 | c.1364+113G>A | - | IntronicSNV | - | 13/23 |
| 20-32856998-A-G | ASIP | c.*25A>G | - | 3-UTRSNV | 3/3 | - |
| 5-33944848-T-G | SLC45A2 | c.1498A>C | p.Thr500Pro | Missense | 7/7 | - |
| 13-95092896-T-A | DCT | c.1481-566A>T | - | IntronicSNV | - | 9/9 |
| 11-89011046-G-A | TYR | c.1185-6895G>A | - | IntronicSNV | - | 3/4 |
| 16-89986546-G-A | MC1R | c.880G>A | p.Asp294Asn | Missense | 1/1 | - |
| 15-48426484-A-T | SLC24A5 | c.331A>T | p.Thr111Ser | Missense | 3/9 | - |
| 15-28365618-A-G | HERC2 | c.13272+874T>C | - | IntronicSNV | - | 86/92 |
| 9-12704725-C-T | TYRP1 | c.1261+20C>T | - | IntronicSNV | - | 6/7 |
| 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 |