Variants identified as being highly likely to be pathogenic
Patient | Gene | Mutation | Status | Reference |
1 | RP1 | c.148G→C p.Gly50Arg | Heterozygous | Unreported |
2 | PRPF8 | c.6337_6339del p.Lys2113del | Heterozygous | Unreported |
3 | USH2A | c.[2299del]+[4321G>T] | Compound heterozygous | 13 |
p.[Glu767Serfs*21]+[Glu1441*] | Unreported | |||
5 | RPGR | c.2625dup p.Gly876Argfs*203 | Hemizygous | 14 |
7 | EYS | c.[490C→T]+[3226T→C] | Compound heterozygous | Both unreported |
p.[.Arg164*]+ [Cys1076Arg] | ||||
8 | PROM1 | c.1117C→T p.Arg373Cys | Heterozygous | 15 |
10 | BBS1 | c.[1169T→G]+[1169T→G] p.[Met390Arg]+[Met390Arg] | Homozygous | 16 |
12 | RS1 | c.304C>T p.Arg102Trp | Hemizygous | 17 |
14 | SAG | c.[874C→T]+[874C→T] p.[Arg292*]+[Arg292*] | Homozygous | 18 |
17 | CRB1 | c.484G→A p.Val162Met | Heterozygous | 19 |
19 | PROM1 | c.[1726C→T]+[1726C→T] p.[Gln576*]+[Gln576*] | Homozygous | 20 |
22 | TOPORS | c.2539C→T p.Arg847* | Heterozygous | Unreported |
23 | USH1C | c.[1556C→T]+ [2630G→A] p.[Pro519Leu]+[Gly877Glu] | Compound heterozygous | Unreported |
27 | PRPH2 | c.394delC p.Gln132Lysfs*7 | Heterozygous | Unreported |
29 | MERTK | c.[2194C→T]+[2194C→T] | Homozygous | Unreported |
p.[Arg732*]+ [Arg732*] | ||||
30 | USH2A | c.[2276G→T]+[4483G→A] | Compound heterozygous | 21 |
p.[Cys759Phe] + [Gly1495Arg] | Unreported | |||
37 | RPGR | c.2405_2406delAG p.Glu802Glyfs*32 | Heterozygous | 14 |
41 | BBS1 | c.[1169T→G]+[1169T→G] p.[Met390Arg]+[Met390Arg] | Homozygous | 16 |
42 | EYS | c.[7095T→G]+[9277_9278dupGG] | Compound heterozygous | Unreported |
p.[Tyr2365*]+[Arg3094Valfs*4] | 22 | |||
49 | FAM161A | c.[1309A→T]+[1567C→G] | Compound heterozygous | 23 |
p.[Arg437*]+ [Arg523Gly] | Unreported | |||
50 | RPGR | c.1928C→G p.Ser643* | Heterozygous | 24 |