Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
16-89986030-G-A | MC1R | c.364G>A | p.Val122Met | Missense | 1/1 | - |
16-89985940-G-C | MC1R | c.274G>C | p.Val92Leu | Missense | 1/1 | - |
16-89986520-C-T | MC1R | c.854C>T | p.Ala285Val | Missense | 1/1 | - |
16-89986498-A-G | MC1R | c.832A>G | p.Lys278Glu | Missense | 1/1 | - |
16-89985913-T-C | MC1R | c.247T>C | p.Ser83Pro | Missense | 1/1 | - |
16-89986469-C-G | MC1R | c.803C>G | p.Pro268Arg | Missense | 1/1 | - |
16-89985801-C-G | MC1R | c.135C>G | p.Phe45Leu | Missense | 1/1 | - |
16-89985931-G-A | MC1R | c.265G>A | p.Gly89Arg | Missense | 1/1 | - |
16-89986049-T-C | MC1R | c.383T>C | p.Met128Thr | Missense | 1/1 | - |
16-89986481-C-T | MC1R | c.815C>T | p.Thr272Met | Missense | 1/1 | - |
16-89985770-G-A | MC1R | c.104G>A | p.Cys35Tyr | Missense | 1/1 | - |
16-89985788-C-T | MC1R | c.122C>T | p.Ser41Phe | Missense | 1/1 | - |
16-89985799-T-C | MC1R | c.133T>C | p.Phe45Leu | Missense | 1/1 | - |
16-89986508-A-G | MC1R | c.842A>G | p.Asn281Ser | Missense | 1/1 | - |
16-89985940-G-T | MC1R | c.274G>T | p.Val92Leu | Missense | 1/1 | - |
16-89986303-C-T | MC1R | c.637C>T | p.Arg213Trp | Missense | 1/1 | - |
16-89986589-C-T | MC1R | c.923C>T | p.Thr308Met | Missense | 1/1 | - |
16-89986558-T-C | MC1R | c.892T>C | p.Tyr298His | Missense | 1/1 | - |
16-89986503-C-A | MC1R | c.837C>A | p.Asn279Lys | Missense | 1/1 | - |
16-89986090-C-T | MC1R | c.424C>T | p.Arg142Cys | Missense | 1/1 | - |
16-89985931-G-C | MC1R | c.265G>C | p.Gly89Arg | Missense | 1/1 | - |
16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |