| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 15-48427137-T-G | SLC24A5 | c.546T>G | p.Ser182Arg | Missense | 5/9 | - |
| 5-33984412-C-T | SLC45A2 | c.277G>A | p.Asp93Asn | Missense | 1/7 | - |
| 5-33947327-T-C | SLC45A2 | c.1309A>G | p.Thr437Ala | Missense | 6/7 | - |
| 15-48426497-C-A | SLC24A5 | c.344C>A | p.Ala115Glu | Missense | 3/9 | - |
| 15-28116316-G-A | OCA2 | c.2228C>T | p.Pro743Leu | Missense | 21/24 | - |
| 15-48427137-T-A | SLC24A5 | c.546T>A | p.Ser182Arg | Missense | 5/9 | - |
| X-77266957-C-A | ATP7A | c.1958C>A | p.Ser653Tyr | Missense | 9/23 | - |
| 5-33982434-C-T | SLC45A2 | c.469G>A | p.Asp157Asn | Missense | 2/7 | - |
| 5-33963870-C-T | SLC45A2 | c.814G>A | p.Glu272Lys | Missense | 3/7 | - |
| 15-48427135-A-C | SLC24A5 | c.544A>C | p.Ser182Arg | Missense | 5/9 | - |
| 15-28230247-C-T | OCA2 | c.1327G>A | p.Val443Ile | Missense | 13/24 | - |
| 11-68855363-G-A | TPCN2 | c.2201G>A | p.Gly734Glu | Missense | 25/25 | - |
| 15-48428880-G-A | SLC24A5 | c.591G>A | p.Trp197* | Nonsense | 6/9 | - |
| 5-33944916-G-A | SLC45A2 | c.1430C>T | p.Ala477Val | Missense | 7/7 | - |
| 15-48426484-A-G | SLC24A5 | c.331A>G | p.Thr111Ala | Missense | 3/9 | - |
| 15-48427181-G-A | SLC24A5 | c.590G>A | p.Trp197* | Nonsense | 5/9 | - |
| 5-33947318-T-C | SLC45A2 | c.1318A>G | p.Thr440Ala | Missense | 6/7 | - |
| 15-28228553-C-T | OCA2 | c.1441G>A | p.Ala481Thr | Missense | 14/24 | - |
| 5-33964121-C-A | SLC45A2 | c.563G>T | p.Gly188Val | Missense | 3/7 | - |
| X-77284835-G-T | ATP7A | c.3005G>T | p.Cys1002Phe | Missense | 15/23 | - |
| 11-68846399-A-C | TPCN2 | c.1450A>C | p.Met484Leu | Missense | 16/25 | - |
| 15-48427112-G-A | SLC24A5 | c.521G>A | p.Arg174Lys | Missense | 5/9 | - |
| X-77266686-A-T | ATP7A | c.1883A>T | p.Glu628Val | Missense | 8/23 | - |
| 11-68846399-A-T | TPCN2 | c.1450A>T | p.Met484Leu | Missense | 16/25 | - |
| 15-28260053-G-A | OCA2 | c.913C>T | p.Arg305Trp | Missense | 9/24 | - |
| X-46513066-C-G | SLC9A7 | c.1122G>C | p.Leu374Phe | Missense | 8/17 | - |
| 5-33944917-C-T | SLC45A2 | c.1429G>A | p.Ala477Thr | Missense | 7/7 | - |
| 15-28230318-C-T | OCA2 | c.1256G>A | p.Arg419Gln | Missense | 13/24 | - |
| X-46513066-C-A | SLC9A7 | c.1122G>T | p.Leu374Phe | Missense | 8/17 | - |