| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-89986546-G-A | MC1R | c.880G>A | p.Asp294Asn | Missense | 1/1 | - |
| 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 | - |
| 2-9661184-T-C | ADAM17 | c.957+148A>G | - | IntronicSNV | - | 8/18 |
| 15-48426484-A-T | SLC24A5 | c.331A>T | p.Thr111Ser | Missense | 3/9 | - |
| 15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
| 15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
| 12-43847683-A-G | ADAMTS20 | c.1760+27T>C | - | IntronicSNV | - | 12/38 |
| 16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |
| 16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |
| 19-3544892-C-A | MFSD12 | c.1335G>T | p.Ala445Ala | Synonymous | 9/10 | - |
| 15-28514281-T-C | HERC2 | c.1446+113A>G | - | IntronicSNV | - | 11/92 |
| 15-28514281-T-A | HERC2 | c.1446+113A>T | - | IntronicSNV | - | 11/92 |
| 15-28235773-C-T | OCA2 | c.1065G>A | p.Ala355Ala | Synonymous | 10/24 | - |
| 15-48433494-A-G | MYEF2 | c.*1611T>C | - | 3-UTRSNV | 17/17 | - |
| 6-396321-C-T | IRF4 | c.492+386C>T | - | IntronicSNV | - | 4/8 |
| 12-43863773-C-T | ADAMTS20 | c.1118-1265G>A | - | IntronicSNV | - | 7/38 |
| 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 | - |
| 15-28230318-C-T | OCA2 | c.1256G>A | p.Arg419Gln | Missense | 13/24 | - |
| 15-28197037-T-C | OCA2 | c.1844A>G | p.His615Arg | Missense | 18/24 | - |
| 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 | - |
| 16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |
| 19-3544892-C-G | MFSD12 | c.1335G>C | p.Ala445Ala | Synonymous | 9/10 | - |
| 19-3544892-C-T | MFSD12 | c.1335G>A | p.Ala445Ala | Synonymous | 9/10 | - |
| 11-61076372-T-C | DDB1 | c.2661+83A>G | - | IntronicSNV | - | 21/26 |
| 5-33951693-C-A | SLC45A2 | c.1122G>T | p.Leu374Phe | Missense | 5/7 | - |
| 10-108399797-T-G | SORCS1 | c.2476-10651A>C | - | IntronicSNV | - | 18/25 |
| 16-89986546-G-C | MC1R | c.880G>C | p.Asp294His | Missense | 1/1 | - |
| 5-33963870-C-T | SLC45A2 | c.814G>A | p.Glu272Lys | Missense | 3/7 | - |
| 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 | - |
| 5-33951693-C-G | SLC45A2 | c.1122G>C | p.Leu374Phe | Missense | 5/7 | - |
| 15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
| 11-61080557-C-T | DDB1 | c.2069+414G>A | - | IntronicSNV | - | 16/26 |
| 13-95096013-T-C | DCT | c.1279-122A>G | - | IntronicSNV | - | 8/9 |
| 15-28228553-C-T | OCA2 | c.1441G>A | p.Ala481Thr | Missense | 14/24 | - |
| 16-89986117-C-T | MC1R | c.451C>T | p.Arg151Cys | Missense | 1/1 | - |
| 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 | - |
| 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 | - |
| 16-89986144-C-T | MC1R | c.478C>T | p.Arg160Trp | Missense | 1/1 | - |
| 12-43882501-C-T | ADAMTS20 | c.1117+1697G>A | - | IntronicSNV | - | 7/38 |
| 20-32856998-A-G | ASIP | c.*25A>G | - | 3-UTRSNV | 3/3 | - |
| 19-3545022-C-T | MFSD12 | c.1290-85G>A | - | IntronicSNV | - | 8/9 |
| 11-88911696-C-A | TYR | c.575C>A | p.Ser192Tyr | Missense | 1/5 | - |
| 13-95096013-T-A | DCT | c.1279-122A>T | - | IntronicSNV | - | 8/9 |
| 11-89011046-G-A | TYR | c.1185-6895G>A | - | IntronicSNV | - | 3/4 |