| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |
| 16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
| 3-69788840-C-T | MITF | c.92C>T | p.Pro31Leu | Missense | 1/10 | - |
| 9-21971182-A-G | CDKN2A | c.176T>C | p.Val59Ala | Missense | 2/3 | - |
| 9-21971109-G-T | CDKN2A | c.249C>A | p.His83Gln | Missense | 2/3 | - |
| 16-89986546-G-C | MC1R | c.880G>C | p.Asp294His | Missense | 1/1 | - |
| 9-21971063-G-T | CDKN2A | c.295C>A | p.Arg99Arg | Synonymous | 2/3 | - |
| 9-21970971-G-A | CDKN2A | c.387C>T | p.Tyr129Tyr | Synonymous | 2/3 | - |
| 9-21971146-T-A | CDKN2A | c.212A>T | p.Asn71Ile | Missense | 2/3 | - |
| 16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |
| 9-21971057-C-A | CDKN2A | c.301G>T | p.Gly101Trp | Missense | 2/3 | - |
| 9-21971109-G-C | CDKN2A | c.249C>G | p.His83Gln | Missense | 2/3 | - |
| 9-21971017-G-A | CDKN2A | c.341C>T | p.Pro114Leu | Missense | 2/3 | - |
| 9-21970916-C-T | CDKN2A | c.442G>A | p.Ala148Thr | Missense | 2/3 | - |
| 16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |
| 9-21971191-C-A | CDKN2A | c.167G>T | p.Ser56Ile | Missense | 2/3 | - |
| 16-89986091-G-A | MC1R | c.425G>A | p.Arg142His | Missense | 1/1 | - |