Table 2. Molecular findings in patients with unexpected genotyping results.

ID (#)	Panel	Gender (m/f)	Gene	Zygosity	Exon/Intron (IVS)	Nucleotide	Protein	Segregation analysis	Reference
36	II	f	CEP290	Heterozygous	Exon 12 Intron 26	c.982C>T c.2991+1655A>G	p.Gln328* splice site/p.Cys998*	yes	novel [8, 23]
37	II	m	MFSD8	Homozygous	Exon 13	c.1445G>C	p.Arg482Pro	yes	novel
39	II	m	RPGRIP1	Homozygous	Exon 19	c.3100_3238del139	p.Gln1034Thrfs*23	no	novel
46	I	f	PRPF31	Heterozygous	Exon 8	c.839T>G	p.Val280Gly	yes	novel
47	II	m	PRPF31	Heterozygous	Exon 1–3	deletion of exons 1–3	deletion of exons 1–3	yes	[8, 24]
48	III	f	PRPF31	Heterozygous	Intron 7	c.698-1G>A	splice	no	[25]
49	I	f	PRPF31	Heterozygous	Exon 1–5	deletion of exons 1–5	deletion of exons 1–5	yes	[8, 24]
50	Sanger	m	PRPF31	Heterozygous	Exon 8	c.816_830delCTACATCTACCACAG	p.Tyr273_Ser277del	no	novel
63	III	m	CRX	Heterozygous	Exon 3	c.122G>A	p.Arg41Gln	yes	[26]
66	IV	f	PRPH2	Heterozygous	Exon 1	c.422A>G	p.Tyr141Cys	no	[27]
68	III	f	RPGR	Heterozygous	ORF15	c.2442_2445del AGAG	p.Gly817Lysfs*2	no	[28]
69	ORF15-Amplicon	m	RPGR	Hemizygous	ORF15	c.2452G>T	p.Glu818*	no	novel
71	IV	m	RPGR	Hemizygous	Exon 8	c.917A>C	p.His306Pro	no	novel
72	ORF15-Amplicon	m	RPGR	Hemizygous	ORF15	c.2630delA	p.Glu877Glyfs*212	yes	novel
73	IV	m	RPGR	Hemizygous	Exon 9	c.1006A>T	p.Asn336Tyr	no	novel
74	ORF15-Amplicon	m	RPGR	Hemizygous	ORF15	c.2426_2427delAG	p.Glu809Glyfs*25	no	[28]
75	III	f	RPGR	Heterozygous	ORF15	c.2405_2406delAG	p.Glu802Glyfs*32	no	[28]
76	IV	m	RPGR	Hemizygous	ORF15	c.3034delG	p.Glu1012Lysfs*77	no	novel
77	V	m	RPGR	Hemizygous	Exon 3	c.194G>T	p.Gly65Val	no	[29–31]
79	III	f	RP2	Heterozygous	Exon 3	c.829dupG	p.Ala277Glyfs*11	no	novel
80	I	m	RP2	Hemizygous (47,XXY karyotype, skewed X inactivation)	Exon 2	c.630_633delTCGT	p.Arg211Phefs*26	no	novel