| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 11-89018081-C-A | TYR | c.1325C>A | p.Ser442Tyr | Missense | 4/5 | - |
| 15-28234746-C-T | OCA2 | c.1182+1G>A | - | IntronicSNV | - | 11/23 |
| 11-88924382-C-T | TYR | c.832C>T | p.Arg278* | Nonsense | 2/5 | - |
| 11-88924494-C-G | TYR | c.944C>G | p.Ser315* | Nonsense | 2/5 | - |
| 15-28230312-C-G | OCA2 | c.1262G>C | p.Arg421Pro | Missense | 13/24 | - |
| 11-88911350-C-G | TYR | c.229C>G | p.Arg77Gly | Missense | 1/5 | - |
| 15-28228486-C-T | OCA2 | c.1503+5G>A | - | IntronicSNV | - | 14/23 |
| 11-88911142-C-A | TYR | c.21C>A | p.Tyr7* | Nonsense | 1/5 | - |
| 15-28116339-C-CACCG | OCA2 | c.2204_2205insCGGT | p.Ser736Glyfs*6 | Frameshift | 21/24 | - |
| 15-28202804-G-A | OCA2 | c.1714C>T | p.Arg572Cys | Missense | 16/24 | - |
| 15-28116349-G-C | OCA2 | c.2195C>G | p.Ser732* | Nonsense | 21/24 | - |
| 15-28261291-G-T | OCA2 | c.849C>A | p.Ser283Arg | Missense | 8/24 | - |
| 11-88911879-G-A | TYR | c.758G>A | p.Gly253Glu | Missense | 1/5 | - |
| 11-88911467-C-T | TYR | c.346C>T | p.Arg116* | Nonsense | 1/5 | - |
| 15-28211968-C-T | OCA2 | c.1504G>A | p.Gly502Ser | Missense | 15/24 | - |
| 5-33982425-C-G | SLC45A2 | c.478G>C | p.Asp160His | Missense | 2/7 | - |
| 11-88961122-C-G | TYR | c.1168C>G | p.His390Asp | Missense | 3/5 | - |
| 11-88961123-A-G | TYR | c.1169A>G | p.His390Arg | Missense | 3/5 | - |
| 11-88911285-G-A | TYR | c.164G>A | p.Cys55Tyr | Missense | 1/5 | - |
| 15-28090165-GACG-G | OCA2 | c.2373_2375delCGT | p.Val792delVal | InFrameDeletion | 23/24 | - |
| 15-28116379-TA-T | OCA2 | c.2165delT | p.Ile722Lysfs*17 | Frameshift | 21/24 | - |
| 11-88911192-G-A | TYR | c.71G>A | p.Cys24Tyr | Missense | 1/5 | - |
| 11-89017990-C-A | TYR | c.1234C>A | p.Pro412Thr | Missense | 4/5 | - |
| 11-88924446-G-A | TYR | c.896G>A | p.Arg299His | Missense | 2/5 | - |
| 15-28230232-G-A | OCA2 | c.1342C>T | p.Leu448Phe | Missense | 13/24 | - |
| 11-88911350-C-T | TYR | c.229C>T | p.Arg77Trp | Missense | 1/5 | - |
| 5-33982374-C-A | SLC45A2 | c.529G>T | p.Glu177* | Nonsense | 2/7 | - |
| 15-28228568-T-C | OCA2 | c.1426A>G | p.Asn476Asp | Missense | 14/24 | - |
| 5-33954465-C-A | SLC45A2 | c.1032+1G>T | - | IntronicSNV | - | 4/6 |
| 15-28116300-C-T | OCA2 | c.2244G>A | p.Met748Ile | Missense | 21/24 | - |
| 11-88911577-CC-C | TYR | c.456delC | p.Ile153*fs*1 | Frameshift | 1/5 | - |
| 11-88924479-C-CC | TYR | c.929_929dupC | p.Arg311Lysfs*7 | Frameshift | 2/5 | - |
| 5-33984556-T-C | SLC45A2 | c.133A>G | p.Arg45Gly | Missense | 1/7 | - |
| 5-33951770-C-T | SLC45A2 | c.1045G>A | p.Gly349Arg | Missense | 5/7 | - |
| 11-88911824-T-C | TYR | c.703T>C | p.Tyr235His | Missense | 1/5 | - |
| 15-28267644-T-C | OCA2 | c.646+3A>G | - | IntronicSNV | - | 6/23 |
| 11-89017960-C-T | TYR | c.1204C>T | p.Arg402* | Nonsense | 4/5 | - |
| 11-88911757-A-T | TYR | c.636A>T | p.Arg212Ser | Missense | 1/5 | - |
| 15-28116316-G-A | OCA2 | c.2228C>T | p.Pro743Leu | Missense | 21/24 | - |
| 11-88911693-G-GG | TYR | c.572_572dupG | p.Ser192Ilefs*2 | Frameshift | 1/5 | - |
| 15-28277290-G-A | OCA2 | c.247C>T | p.Gln83* | Nonsense | 3/24 | - |
| 11-88911445-G-A | TYR | c.324G>A | p.Trp108* | Nonsense | 1/5 | - |
| 15-48434406-T-TT | SLC24A5 | c.1361_1361dupT | p.Leu454Phefs*33 | Frameshift | 9/9 | - |
| 14-52156555-A-G | FRMD6 | c.1A>G | p.Met1Val | Missense | 2/14 | - |
| 15-28259956-A-AA | OCA2 | c.1010_1010dupT | p.Leu338Profs*11 | Frameshift | 9/24 | - |
| 15-28273126-G-A | OCA2 | c.406C>T | p.Arg136* | Nonsense | 4/24 | - |
| 14-52187034-G-C | FRMD6 | c.1262G>C | p.Ser421Thr | Missense | 11/14 | - |
| 11-88924487-C-A | TYR | c.937C>A | p.Pro313Thr | Missense | 2/5 | - |
| 11-89018021-G-A | TYR | c.1265G>A | p.Arg422Gln | Missense | 4/5 | - |
| 14-52182112-C-A | FRMD6 | c.895C>A | p.Pro299Thr | Missense | 10/14 | - |
| 14-52182112-C-T | FRMD6 | c.895C>T | p.Pro299Ser | Missense | 10/14 | - |
| 15-28171322-A-C | OCA2 | c.2030T>G | p.Val677Gly | Missense | 19/24 | - |
| 11-88911145-C-A | TYR | c.24C>A | p.Cys8* | Nonsense | 1/5 | - |
| 15-28228553-C-T | OCA2 | c.1441G>A | p.Ala481Thr | Missense | 14/24 | - |
| 11-88911351-G-A | TYR | c.230G>A | p.Arg77Gln | Missense | 1/5 | - |
| 15-28230225-G-A | OCA2 | c.1349C>T | p.Thr450Met | Missense | 13/24 | - |
| 11-88911774-G-A | TYR | c.653G>A | p.Trp218* | Nonsense | 1/5 | - |
| 5-33963840-C-A | SLC45A2 | c.844G>T | p.Glu282* | Nonsense | 3/7 | - |
| 14-52171544-A-T | FRMD6 | c.425A>T | p.Glu142Val | Missense | 6/14 | - |
| 14-52178273-C-T | FRMD6 | c.715C>T | p.Leu239Leu | Synonymous | 8/14 | - |
| 11-89017955-G-T | TYR | c.1199G>T | p.Trp400Leu | Missense | 4/5 | - |
| 14-52179263-G-C | FRMD6 | c.819G>C | p.Val273Val | Synonymous | 9/14 | - |
| 14-52174916-G-A | FRMD6 | c.655G>A | p.Asp219Asn | Missense | 7/14 | - |
| 11-89028369-G-A | TYR | c.1425G>A | p.Trp475* | Nonsense | 5/5 | - |
| 15-28267661-G-A | OCA2 | c.632C>T | p.Pro211Leu | Missense | 6/24 | - |
| 15-28090193-C-T | OCA2 | c.2344G>A | p.Gly782Arg | Missense | 23/24 | - |
| 11-88911683-C-CATTATTATGTGTCAAATTATCCCCC | TYR | c.562_563insATTATTATGTGTCAAATTATCCCCC | p.Leu188Hisfs*14 | Frameshift | 1/5 | - |
| 11-88960991-G-A | TYR | c.1037G>A | p.Gly346Glu | Missense | 3/5 | - |