Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
16-89986546-G-C | MC1R | c.880G>C | p.Asp294His | Missense | 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 | - |
16-89986091-G-A | MC1R | c.425G>A | p.Arg142His | Missense | 1/1 | - |
16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |