| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-89986560-C-T | MC1R | c.894C>T | p.Tyr298Tyr | Synonymous | 1/1 | - |
| 16-89986609-T-C | MC1R | c.943T>C | p.Cys315Arg | Missense | 1/1 | - |
| 16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |
| 16-89986566-C-T | MC1R | c.900C>T | p.Phe300Phe | Synonymous | 1/1 | - |
| 16-89985856-G-A | MC1R | c.190G>A | p.Ala64Thr | Missense | 1/1 | - |
| 16-89986608-A-T | MC1R | c.942A>T | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89986091-G-A | MC1R | c.425G>A | p.Arg142His | Missense | 1/1 | - |
| 16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |
| 16-89985999-G-A | MC1R | c.333G>A | p.Ala111Ala | Synonymous | 1/1 | - |
| 16-89985806-G-T | MC1R | c.140G>T | p.Ser47Ile | Missense | 1/1 | - |
| 16-89985999-G-C | MC1R | c.333G>C | p.Ala111Ala | Synonymous | 1/1 | - |
| 16-89985999-G-T | MC1R | c.333G>T | p.Ala111Ala | Synonymous | 1/1 | - |
| 16-89985801-C-G | MC1R | c.135C>G | p.Phe45Leu | Missense | 1/1 | - |
| 16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
| 16-89985982-C-T | MC1R | c.316C>T | p.Leu106Leu | Synonymous | 1/1 | - |
| 16-89986154-G-A | MC1R | c.488G>A | p.Arg163Gln | Missense | 1/1 | - |
| 16-89985799-T-C | MC1R | c.133T>C | p.Phe45Leu | Missense | 1/1 | - |
| 16-89985940-G-A | MC1R | c.274G>A | p.Val92Met | Missense | 1/1 | - |
| 16-89986170-C-T | MC1R | c.504C>T | p.Ile168Ile | Synonymous | 1/1 | - |
| 16-89985984-G-A | MC1R | c.318G>A | p.Leu106Leu | Synonymous | 1/1 | - |
| 16-89986608-A-C | MC1R | c.942A>C | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89986546-G-C | MC1R | c.880G>C | p.Asp294His | Missense | 1/1 | - |
| 16-89985752-A-AA | MC1R | c.86dupA | p.Asn29Lysfs*14 | Frameshift | 1/1 | - |
| 16-89985984-G-T | MC1R | c.318G>T | p.Leu106Leu | Synonymous | 1/1 | - |
| 16-89986608-A-G | MC1R | c.942A>G | p.Thr314Thr | Synonymous | 1/1 | - |
| 16-89985984-G-C | MC1R | c.318G>C | p.Leu106Leu | Synonymous | 1/1 | - |
| 16-89986144-C-T | MC1R | c.478C>T | p.Arg160Trp | Missense | 1/1 | - |
| 16-89986117-C-T | MC1R | c.451C>T | p.Arg151Cys | Missense | 1/1 | - |
| 16-89985916-G-A | MC1R | c.250G>A | p.Asp84Asn | Missense | 1/1 | - |
| 16-89986252-T-C | MC1R | c.586T>C | p.Phe196Leu | Missense | 1/1 | - |
| 16-89986090-C-T | MC1R | c.424C>T | p.Arg142Cys | Missense | 1/1 | - |
| 16-89986203-C-CC | MC1R | c.537dupC | p.Ile180Hisfs*59 | Frameshift | 1/1 | - |
| 16-89986122-C-A | MC1R | c.456C>A | p.Tyr152* | Nonsense | 1/1 | - |
| 16-89986170-C-A | MC1R | c.504C>A | p.Ile168Ile | Synonymous | 1/1 | - |
| 16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |
| 16-89985998-C-T | MC1R | c.332C>T | p.Ala111Val | Missense | 1/1 | - |