| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-89985907-G-C | MC1R | c.241G>C | p.Ala81Pro | Missense | 1/1 | - |
| 16-89986122-C-A | MC1R | c.456C>A | p.Tyr152* | Nonsense | 1/1 | - |
| 16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |
| 16-89986084-G-A | MC1R | c.418G>A | p.Val140Met | Missense | 1/1 | - |
| 16-89986519-G-A | MC1R | c.853G>A | p.Ala285Thr | Missense | 1/1 | - |
| 16-89985766-C-T | MC1R | c.100C>T | p.Arg34Trp | Missense | 1/1 | - |
| 16-89986539-C-T | MC1R | c.873C>T | p.Ala291Ala | Synonymous | 1/1 | - |
| 16-89986016-A-T | MC1R | c.350A>T | p.Asp117Val | Missense | 1/1 | - |
| 16-89985866-G-A | MC1R | c.200G>A | p.Arg67Gln | Missense | 1/1 | - |
| 16-89986432-C-T | MC1R | c.766C>T | p.Pro256Ser | Missense | 1/1 | - |
| 16-89986614-C-T | MC1R | c.948C>T | p.Ser316Ser | Synonymous | 1/1 | - |
| 16-89986279-G-C | MC1R | c.613G>C | p.Val205Leu | Missense | 1/1 | - |
| 16-89986333-C-T | MC1R | c.667C>T | p.Arg223Trp | Missense | 1/1 | - |
| 16-89985976-G-A | MC1R | c.310G>A | p.Gly104Ser | Missense | 1/1 | - |
| 16-89986527-C-G | MC1R | c.861C>G | p.Ile287Met | Missense | 1/1 | - |
| 16-89986030-G-A | MC1R | c.364G>A | p.Val122Met | Missense | 1/1 | - |
| 16-89986560-C-T | MC1R | c.894C>T | p.Tyr298Tyr | Synonymous | 1/1 | - |
| 16-89986197-G-A | MC1R | c.531G>A | p.Thr177Thr | Synonymous | 1/1 | - |
| 16-89986583-G-A | MC1R | c.917G>A | p.Arg306His | Missense | 1/1 | - |
| 16-89986617-G-T | MC1R | c.951G>T | p.Trp317Cys | Missense | 1/1 | - |
| 16-89986149-G-A | MC1R | c.483G>A | p.Ala161Ala | Synonymous | 1/1 | - |
| 16-89986566-C-T | MC1R | c.900C>T | p.Phe300Phe | Synonymous | 1/1 | - |
| 16-89986356-G-A | MC1R | c.690G>A | p.Pro230Pro | Synonymous | 1/1 | - |
| 16-89986178-C-A | MC1R | c.512C>A | p.Ala171Asp | Missense | 1/1 | - |
| 16-89986039-T-C | MC1R | c.373T>C | p.Cys125Arg | Missense | 1/1 | - |
| 16-89986145-G-A | MC1R | c.479G>A | p.Arg160Gln | Missense | 1/1 | - |
| 16-89986330-G-T | MC1R | c.664G>T | p.Ala222Ser | Missense | 1/1 | - |
| 16-89986520-C-G | MC1R | c.854C>G | p.Ala285Gly | Missense | 1/1 | - |
| 16-89986608-A-T | MC1R | c.942A>T | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89985913-T-C | MC1R | c.247T>C | p.Ser83Pro | Missense | 1/1 | - |
| 16-89985871-C-G | MC1R | c.205C>G | p.Leu69Val | Missense | 1/1 | - |
| 16-89985865-C-T | MC1R | c.199C>T | p.Arg67Trp | Missense | 1/1 | - |
| 16-89986085-T-G | MC1R | c.419T>G | p.Val140Gly | Missense | 1/1 | - |
| 16-89986486-G-A | MC1R | c.820G>A | p.Gly274Ser | Missense | 1/1 | - |
| 16-89986498-A-G | MC1R | c.832A>G | p.Lys278Glu | Missense | 1/1 | - |
| 16-89986032-G-A | MC1R | c.366G>A | p.Val122Val | Synonymous | 1/1 | - |
| 16-89986143-G-C | MC1R | c.477G>C | p.Pro159Pro | Synonymous | 1/1 | - |
| 16-89986137-C-T | MC1R | c.471C>T | p.Thr157Thr | Synonymous | 1/1 | - |
| 16-89986365-G-A | MC1R | c.699G>A | p.Gln233Gln | 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 | - |
| 16-89986287-C-T | MC1R | c.621C>T | p.Tyr207Tyr | Synonymous | 1/1 | - |
| 16-89986133-T-C | MC1R | c.467T>C | p.Val156Ala | Missense | 1/1 | - |
| 16-89986080-C-T | MC1R | c.414C>T | p.Ile138Ile | Synonymous | 1/1 | - |
| 16-89985950-C-T | MC1R | c.284C>T | p.Thr95Met | Missense | 1/1 | - |
| 16-89985799-T-C | MC1R | c.133T>C | p.Phe45Leu | Missense | 1/1 | - |
| 16-89986558-T-C | MC1R | c.892T>C | p.Tyr298His | Missense | 1/1 | - |
| 16-89985770-G-A | MC1R | c.104G>A | p.Cys35Tyr | Missense | 1/1 | - |
| 16-89986508-A-G | MC1R | c.842A>G | p.Asn281Ser | Missense | 1/1 | - |
| 16-89986303-C-T | MC1R | c.637C>T | p.Arg213Trp | Missense | 1/1 | - |
| 16-89986593-C-T | MC1R | c.927C>T | p.Leu309Leu | Synonymous | 1/1 | - |
| 16-89985778-G-A | MC1R | c.112G>A | p.Val38Met | Missense | 1/1 | - |
| 16-89986203-C-T | MC1R | c.537C>T | p.Phe179Phe | Synonymous | 1/1 | - |
| 16-89986494-C-T | MC1R | c.828C>T | p.Ile276Ile | Synonymous | 1/1 | - |
| 16-89986318-G-A | MC1R | c.652G>A | p.Ala218Thr | Missense | 1/1 | - |
| 16-89986081-G-A | MC1R | c.415G>A | p.Ala139Thr | Missense | 1/1 | - |
| 16-89986608-A-C | MC1R | c.942A>C | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89986608-A-G | MC1R | c.942A>G | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89986170-C-T | MC1R | c.504C>T | p.Ile168Ile | Synonymous | 1/1 | - |
| 16-89986561-G-A | MC1R | c.895G>A | p.Ala299Thr | Missense | 1/1 | - |
| 16-89986356-G-C | MC1R | c.690G>C | p.Pro230Pro | Synonymous | 1/1 | - |
| 16-89986531-T-C | MC1R | c.865T>C | p.Cys289Arg | Missense | 1/1 | - |
| 16-89985788-C-G | MC1R | c.122C>G | p.Ser41Cys | Missense | 1/1 | - |
| 16-89985962-T-C | MC1R | c.296T>C | p.Leu99Pro | Missense | 1/1 | - |
| 16-89986092-C-A | MC1R | c.426C>A | p.Arg142Arg | Synonymous | 1/1 | - |
| 16-89986055-C-T | MC1R | c.389C>T | p.Ser130Phe | Missense | 1/1 | - |
| 16-89986373-G-A | MC1R | c.707G>A | p.Gly236Asp | Missense | 1/1 | - |
| 16-89986458-C-T | MC1R | c.792C>T | p.Ile264Ile | Synonymous | 1/1 | - |
| 16-89986144-C-A | MC1R | c.478C>A | p.Arg160Arg | Synonymous | 1/1 | - |
| 16-89986594-A-C | MC1R | c.928A>C | p.Lys310Gln | Missense | 1/1 | - |
| 16-89986090-C-T | MC1R | c.424C>T | p.Arg142Cys | Missense | 1/1 | - |
| 16-89986170-C-A | MC1R | c.504C>A | p.Ile168Ile | Synonymous | 1/1 | - |
| 16-89986467-C-A | MC1R | c.801C>A | p.Cys267* | Nonsense | 1/1 | - |