Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
16-89986091-G-A | MC1R | c.425G>A | p.Arg142His | Missense | 1/1 | - |
16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |
16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |
16-89985940-G-A | MC1R | c.274G>A | p.Val92Met | Missense | 1/1 | - |
16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
16-89986154-G-A | MC1R | c.488G>A | p.Arg163Gln | Missense | 1/1 | - |
16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |