| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 20-33355046-G-A | NCOA6 | c.514+1221C>T | - | IntronicSNV | - | 5/14 |
| 15-48426484-A-G | SLC24A5 | c.331A>G | p.Thr111Ala | Missense | 3/9 | - |
| 16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
| 4-55602765-G-C | KIT | c.2586G>C | p.Leu862Leu | Synonymous | 18/21 | - |
| 16-89986365-G-A | MC1R | c.699G>A | p.Gln233Gln | Synonymous | 1/1 | - |
| 11-76912636-A-T | MYO7A | c.4996A>T | p.Ser1666Cys | Missense | 36/49 | - |
| 15-28338713-A-C | OCA2 | c.-22+5657T>G | - | intron_variant | - | 1/23 |
| 16-89986546-G-C | MC1R | c.880G>C | p.Asp294His | Missense | 1/1 | - |
| 2-223161889-A-G | PAX3 | c.129T>C | p.Gly43Gly | Synonymous | 2/4 | - |
| 15-48426484-A-T | SLC24A5 | c.331A>T | p.Thr111Ser | Missense | 3/9 | - |
| 16-89985778-G-A | MC1R | c.112G>A | p.Val38Met | Missense | 1/1 | - |
| 16-89986268-T-G | MC1R | c.602T>G | p.Val201Gly | Missense | 1/1 | - |
| 16-89985752-A-AA | MC1R | c.86dupA | p.Asn29Lysfs*14 | Frameshift | 1/1 | - |
| 16-89985940-G-A | MC1R | c.274G>A | p.Val92Met | Missense | 1/1 | - |
| 5-1322087-C-T | CLPTM1L | c.1316-153G>A | - | IntronicSNV | - | 13/16 |
| 11-89011046-G-A | TYR | c.1185-6895G>A | - | IntronicSNV | - | 3/4 |
| 5-33963870-C-T | SLC45A2 | c.814G>A | p.Glu272Lys | Missense | 3/7 | - |
| 3-70014384-G-A | MITF | c.1548G>A | p.Thr516Thr | Synonymous | 10/10 | - |
| 15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
| 16-89755903-A-T | CDK10 | c.-54+171A>T | - | intron_variant | - | 2/12 |
| 16-89986608-A-C | MC1R | c.942A>C | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89986458-C-T | MC1R | c.792C>T | p.Ile264Ile | Synonymous | 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 | - |
| 16-89755903-A-G | CDK10 | c.-54+171A>G | - | intron_variant | - | 2/12 |
| 16-89986608-A-G | MC1R | c.942A>G | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89986154-G-A | MC1R | c.488G>A | p.Arg163Gln | Missense | 1/1 | - |
| 16-89986421-T-A | MC1R | c.755T>A | p.Leu252His | Missense | 1/1 | - |
| 16-89986503-C-A | MC1R | c.837C>A | p.Asn279Lys | Missense | 1/1 | - |
| 16-89986122-C-A | MC1R | c.456C>A | p.Tyr152* | Nonsense | 1/1 | - |
| 16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |
| 13-95100841-A-G | DCT | c.1236-2826T>C | - | IntronicSNV | - | 7/9 |
| 13-95100841-A-T | DCT | c.1236-2826T>A | - | IntronicSNV | - | 7/9 |
| 13-95100841-A-C | DCT | c.1236-2826T>G | - | IntronicSNV | - | 7/9 |
| 16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |
| 16-89986241-T-G | MC1R | c.575T>G | p.Leu192Arg | Missense | 1/1 | - |
| 22-38544298-A-G | PLA2G6 | c.210-2638T>C | - | IntronicSNV | - | 2/15 |
| 15-28230318-C-T | OCA2 | c.1256G>A | p.Arg419Gln | Missense | 13/24 | - |
| 16-89986608-A-T | MC1R | c.942A>T | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |
| 7-23296533-G-A | GPNMB | c.390G>A | p.Pro130Pro | Synonymous | 4/11 | - |
| 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 | - |
| 2-223161889-A-T | PAX3 | c.129T>A | p.Gly43Gly | Synonymous | 2/4 | - |