| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 9-12702424-G-A | TYRP1 | c.1067G>A | p.Arg356Gln | Missense | 5/8 | - |
| 15-28231761-G-A | OCA2 | c.1211C>T | p.Thr404Met | Missense | 12/24 | - |
| 11-88961101-G-A | TYR | c.1147G>A | p.Asp383Asn | Missense | 3/5 | - |
| 15-28235763-C-G | OCA2 | c.1075G>C | p.Gly359Arg | Missense | 10/24 | - |
| 11-88911285-G-C | TYR | c.164G>C | p.Cys55Ser | Missense | 1/5 | - |
| 9-12694252-G-T | TYRP1 | c.256G>T | p.Asp86Tyr | Missense | 2/8 | - |
| 11-88924446-G-A | TYR | c.896G>A | p.Arg299His | Missense | 2/5 | - |
| 11-88911706-G-A | TYR | c.585G>A | p.Trp195* | Nonsense | 1/5 | - |
| 15-28259979-G-T | OCA2 | c.987C>A | p.Thr329Thr | Synonymous | 9/24 | - |
| 15-28235782-T-G | OCA2 | c.1056A>C | p.Arg352Ser | Missense | 10/24 | - |
| 11-88911344-G-T | TYR | c.223G>T | p.Asp75Tyr | Missense | 1/5 | - |
| 15-28196959-G-A | OCA2 | c.1922C>T | p.Ser641Leu | Missense | 18/24 | - |
| 11-89028478-C-T | TYR | c.1534C>T | p.Gln512* | Nonsense | 5/5 | - |
| 15-28116316-G-A | OCA2 | c.2228C>T | p.Pro743Leu | Missense | 21/24 | - |
| 11-89017960-C-T | TYR | c.1204C>T | p.Arg402* | Nonsense | 4/5 | - |
| 5-33944814-G-A | SLC45A2 | c.1532C>T | p.Ala511Val | Missense | 7/7 | - |
| 15-28235774-G-A | OCA2 | c.1064C>T | p.Ala355Val | Missense | 10/24 | - |
| 15-28090177-G-A | OCA2 | c.2360C>T | p.Ala787Val | Missense | 23/24 | - |
| 11-88911770-C-T | TYR | c.649C>T | p.Arg217Trp | Missense | 1/5 | - |
| 15-28090177-G-T | OCA2 | c.2360C>A | p.Ala787Glu | Missense | 23/24 | - |
| 15-28228538-C-A | OCA2 | c.1456G>T | p.Asp486Tyr | Missense | 14/24 | - |
| 11-88960991-G-A | TYR | c.1037G>A | p.Gly346Glu | Missense | 3/5 | - |
| 11-88924382-C-T | TYR | c.832C>T | p.Arg278* | Nonsense | 2/5 | - |
| 15-28230252-T-C | OCA2 | c.1322A>G | p.Asp441Gly | Missense | 13/24 | - |