| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-89986527-C-G | MC1R | c.861C>G | p.Ile287Met | Missense | 1/1 | - |
| 2-9634856-A-G | ADAM17 | c.1824T>C | p.Ser608Ser | Synonymous | 15/19 | - |
| 16-89986608-A-T | MC1R | c.942A>T | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89986353-C-G | MC1R | c.687C>G | p.Arg229Arg | Synonymous | 1/1 | - |
| 2-109513601-A-G | EDAR | c.1109T>C | p.Val370Ala | Missense | 12/12 | - |
| 16-89985996-T-A | MC1R | c.330T>A | p.Ala110Ala | Synonymous | 1/1 | - |
| 16-89986032-G-A | MC1R | c.366G>A | p.Val122Val | Synonymous | 1/1 | - |
| 16-89986353-C-T | MC1R | c.687C>T | p.Arg229Arg | Synonymous | 1/1 | - |
| 16-89985996-T-C | MC1R | c.330T>C | p.Ala110Ala | Synonymous | 1/1 | - |
| 16-89985996-T-G | MC1R | c.330T>G | p.Ala110Ala | Synonymous | 1/1 | - |
| 16-89986353-C-A | MC1R | c.687C>A | p.Arg229Arg | Synonymous | 1/1 | - |
| 16-89986025-T-C | MC1R | c.359T>C | p.Ile120Thr | Missense | 1/1 | - |
| 16-89986032-G-C | MC1R | c.366G>C | p.Val122Val | Synonymous | 1/1 | - |
| 16-89985855-C-T | MC1R | c.189C>T | p.Ile63Ile | Synonymous | 1/1 | - |
| 16-89986608-A-C | MC1R | c.942A>C | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89985881-C-T | MC1R | c.215C>T | p.Pro72Leu | Missense | 1/1 | - |
| 16-89986326-C-T | MC1R | c.660C>T | p.Gly220Gly | Synonymous | 1/1 | - |
| 16-89985855-C-A | MC1R | c.189C>A | p.Ile63Ile | Synonymous | 1/1 | - |
| 16-89986608-A-G | MC1R | c.942A>G | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89986084-G-A | MC1R | c.418G>A | p.Val140Met | Missense | 1/1 | - |
| 16-89985866-G-A | MC1R | c.200G>A | p.Arg67Gln | Missense | 1/1 | - |