Table 1.

Summary of 31 probands carrying pathogenic mutations in known RP genes

ID	Type	Gene	NM ID	Genotype	cDNA change	Protein change	Reference
Group with higher confidence
1235001	Simplex	RHO	NM_000539	Heterozygous	c.1040C>T	p.(P347L)	(Dryja et al. 1990)
690001	Simplex	RPGR	NM_001034853	Hemizygous	c.1377_1378del	p.(L460Ifs)	(Zito et al. 1999)
3812	arRP	PRPH2	NM_000322	Heterozygous	c.554T>C	p.(L185P)	(Kajiwara et al. 1994)
		ROM1	NM_000327	Heterozygous	c.236_237insG	p.(V81Cfs)	(Kajiwara et al. 1994)
1268001	Simplex	PRPF31	NM_015629	Heterozygous	c.636delG	p.(M212Ifs)	(Sullivan et al. 2006)
1313001	Simplex	USH2A	NM_206933	Homozygous	c.2299delG	p.(E767Sfs)	(Eudy et al. 1998)
UTAD319_01	Simplex	RPE65	NM_000329	Homozygous	c.893delA	p.(K298Sfs)	(Zernant et al. 2005)
1249001	Simplex	BBS1	NM_024649	Homozygous	c.1169T>G	p.(M390R)	(Mykytyn et al. 2002)
UTAD468_01	Simplex	BBS1	NM_024649	Homozygous	c.1169T>G	p.(M390R)	(Mykytyn et al. 2002)
RFS095_5294	Simplex	RDH12	NM_152443	Heterozygous	c.806_810del	p.(A269Gfs)	(Janecke et al. 2004)
				Heterozygous	c.495_499del	p.(A166Cfs)	(Stone 2007)
UTAD311_01	Simplex	RDH12	NM_152443	Heterozygous	c.806_810del	p.(A269Gfs)	(Janecke et al. 2004)
				Heterozygous	c.63_66del	p.(I22Gfs)	(Stone 2007)
RFS054_2701	Simplex	ABCA4	NM_000350	Heterozygous	c.3113C>T	p.(A1038V)	(Allikmets et al. 1997)
				Heterozygous	c.4577C>T	p.(T1526M)	(Lewis et al. 1999)
				Heterozygous	c.1622T>C	p.(L541P)	(Rozet et al. 1998)
				Heterozygous	c.658C>T	p.(R220C)	(Webster et al. 2001)
UTAD452_01	Simplex	SNRNP200	NM_014014	Heterozygous	c.2041C>T	p.(R681C)	(Benaglio et al. 2011)
UTAD312_01	Simplex	USH2A	NM_206933	Heterozygous	c.486-1G>A	p.(?)	Novel
				Heterozygous	c.2276G>T	p.(C759F)	(Rivolta et al. 2000)
1239	Simplex	MERTK	NM_006343	Homozygous	c.91_97del7	p.(P31Rfs)	Novel
532001	Simplex	MERTK	NM_006343	Homozygous	c.390G>A	p.(W130*)	Novel
688001	Simplex	RPGR	NM_001034853	Hemizygous	c.2158C>T	p.(Q720*)	Novel
689001	Simplex	RPGR	NM_001034853	Hemizygous	c.2359G>T	p.(G787*)	Novel
693001	Simplex	PRPF31	NM_015629	Heterozygous	c.763C>T	p.(Q255*)	Novel
1053001	Simplex	RPGR	NM_001034853	Heterozygous	c.1375_1376del	p.(V459Lfs)	Novel
1280001	Simplex	CRX	NM_000554	Heterozygous	c.431_443del13	p.(L146Qfs)	Novel
1300001	Simplex	PRPF31	NM_015629	Heterozygous	c.616G>T	p.(E206*)	Novel
1305001	Simplex	PROM1	NM_006017	Heterozygous	c.2011A>T	p.(K671*)	Novel
				Heterozygous	c.510-1G>A	p.(?)	Novel
10786001	Simplex	CNGA1	NM_000087	Heterozygous	c.1885C>T	p.(R629*)	Novel
				Heterozygous	c.117C>A	p.(C39*)	Novel
RFS195_6068	Simplex	PRPF8	NM_006445	Heterozygous	c.6970delG	p.(E2324Rfs)	Novel
UTAD494_01	Simplex	PROM1	NM_006017	Heterozygous	c.730C>T	p.(R244*)	Novel
				Heterozygous	c.1354_1355ins T	p.(Y452Lfs)	Novel
Group with lower confidence
1152001	Simplex	PDE6B	NM_000283	Heterozygous	c.1237C>T	p.(Q413*)	Novel
				Heterozygous	c.2399T>C	p.(L800P)	Novel
UTAD382_01	Simplex	ABCA4	NM_000350	Heterozygous	c.2588G>C	p.(G863A)	(Allikmets et al. 1997)
				Heterozygous	c.4532C>G	p.(P1511R)	Novel
UTAD779_01	Simplex	PRCD	NM_001077620	Homozygous	c.49C>T	p.(R17C)	Novel
1467	arRP	USH2A	NM_206933	Heterozygous	c.4378G>A	p.(G1460R)	Novel
				Heterozygous	c.4106C>T	p.(S1369L)	Novel
RFS051_1930	Simplex	TULP1	NM_003322	Heterozygous	c.1112+2T>C	p.(?)	Novel
				Heterozygous	c.1376T>C	p.(I459T)	Novel
UTAD725_01	Simplex	RDH12	NM_152443	Heterozygous	c.806_810del	p.(A269Gfs)	(Janecke et al. 2004)
				Heterozygous	c.167C>A	p.(A56D)	Novel