Table 1

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
3	USH2A	p.[Glu767Serfs21]+[Glu1441]	Compound heterozygous	Unreported
5	RPGR	c.2625dup p.Gly876Argfs*203	Hemizygous	14
7	EYS	c.[490C→T]+[3226T→C]	Compound heterozygous	Both unreported
7	EYS	p.[.Arg164*]+ [Cys1076Arg]	Compound heterozygous	Both unreported
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
29	MERTK	p.[Arg732]+ [Arg732]	Homozygous	Unreported
30	USH2A	c.[2276G→T]+[4483G→A]	Compound heterozygous	21
30	USH2A	p.[Cys759Phe] + [Gly1495Arg]	Compound heterozygous	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
42	EYS	p.[Tyr2365]+[Arg3094Valfs4]	Compound heterozygous	22
49	FAM161A	c.[1309A→T]+[1567C→G]	Compound heterozygous	23
49	FAM161A	p.[Arg437*]+ [Arg523Gly]	Compound heterozygous	Unreported
50	RPGR	c.1928C→G p.Ser643*	Heterozygous	24