Table 1

Variants identified as being highly likely to be pathogenic

PatientGeneMutationStatusReference
1RP1c.148G→C p.Gly50ArgHeterozygousUnreported
2PRPF8c.6337_6339del p.Lys2113delHeterozygousUnreported
3USH2Ac.[2299del]+[4321G>T]Compound heterozygous13
p.[Glu767Serfs*21]+[Glu1441*]Unreported
5RPGRc.2625dup p.Gly876Argfs*203Hemizygous14
7EYSc.[490C→T]+[3226T→C]Compound heterozygousBoth unreported
p.[.Arg164*]+ [Cys1076Arg]
8PROM1c.1117C→T p.Arg373CysHeterozygous15
10BBS1c.[1169T→G]+[1169T→G] p.[Met390Arg]+[Met390Arg]Homozygous16
12RS1c.304C>T p.Arg102TrpHemizygous17
14SAGc.[874C→T]+[874C→T] p.[Arg292*]+[Arg292*]Homozygous18
17CRB1c.484G→A p.Val162MetHeterozygous19
19PROM1c.[1726C→T]+[1726C→T] p.[Gln576*]+[Gln576*]Homozygous20
22TOPORSc.2539C→T p.Arg847*HeterozygousUnreported
23USH1Cc.[1556C→T]+ [2630G→A] p.[Pro519Leu]+[Gly877Glu]Compound heterozygousUnreported
27PRPH2c.394delC p.Gln132Lysfs*7HeterozygousUnreported
29MERTKc.[2194C→T]+[2194C→T]HomozygousUnreported
p.[Arg732*]+ [Arg732*]
30USH2Ac.[2276G→T]+[4483G→A]Compound heterozygous21
p.[Cys759Phe] + [Gly1495Arg]Unreported
37RPGRc.2405_2406delAG p.Glu802Glyfs*32Heterozygous14
41BBS1c.[1169T→G]+[1169T→G] p.[Met390Arg]+[Met390Arg]Homozygous16
42EYSc.[7095T→G]+[9277_9278dupGG]Compound heterozygousUnreported
p.[Tyr2365*]+[Arg3094Valfs*4]22
49FAM161Ac.[1309A→T]+[1567C→G]Compound heterozygous23
p.[Arg437*]+ [Arg523Gly]Unreported
50RPGRc.1928C→G p.Ser643*Heterozygous24