| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-89986365-G-A | MC1R | c.699G>A | p.Gln233Gln | Synonymous | 1/1 | - |
| 16-89986186-CGTC-C | MC1R | c.520_522delGTC | p.Val174delVal | InFrameDeletion | 1/1 | - |
| 16-89986502-A-G | MC1R | c.836A>G | p.Asn279Ser | Missense | 1/1 | - |
| 16-89985950-C-T | MC1R | c.284C>T | p.Thr95Met | Missense | 1/1 | - |
| 16-89986503-C-A | MC1R | c.837C>A | p.Asn279Lys | Missense | 1/1 | - |
| 16-89986186-G-A | MC1R | c.520G>A | p.Val174Ile | Missense | 1/1 | - |
| 16-89986356-G-C | MC1R | c.690G>C | p.Pro230Pro | Synonymous | 1/1 | - |
| 16-89986119-C-T | MC1R | c.453C>T | p.Arg151Arg | Synonymous | 1/1 | - |
| 16-89986356-G-A | MC1R | c.690G>A | p.Pro230Pro | Synonymous | 1/1 | - |
| 16-89985718-C-G | MC1R | c.52C>G | p.Pro18Ala | Missense | 1/1 | - |
| 16-89986445-A-C | MC1R | c.779A>C | p.His260Pro | Missense | 1/1 | - |
| 16-89986458-C-T | MC1R | c.792C>T | p.Ile264Ile | Synonymous | 1/1 | - |
| 16-89985907-G-C | MC1R | c.241G>C | p.Ala81Pro | Missense | 1/1 | - |
| 16-89986119-C-G | MC1R | c.453C>G | p.Arg151Arg | Synonymous | 1/1 | - |
| 16-89986119-C-A | MC1R | c.453C>A | p.Arg151Arg | Synonymous | 1/1 | - |
| 16-89986355-C-T | MC1R | c.689C>T | p.Pro230Leu | Missense | 1/1 | - |
| 16-89985976-G-A | MC1R | c.310G>A | p.Gly104Ser | Missense | 1/1 | - |
| 16-89986498-A-G | MC1R | c.832A>G | p.Lys278Glu | Missense | 1/1 | - |