Table 1.

IRD panel test samples

Samples	Phenotype	Gene	Chr location	Nt change	Prot change	Status	Detection method	Cvg mut
1	XLRP	RPGR	X:38145845	c.2405-2406delAG	p.E802Gfs*32	HEMI	WES	26
2	ARRP	CRB1	1:197403836	c.2843G > A	p.C948Y	HOM	Reseq	125
3	ARRP	USH2A	1:215955412	c.10712C > T	p.T3571M	HET	Asper	160
		USH2A	1:216420460	c.2276G > T	p.C759F	HET	Asper	70
4	USHER	CDH23	10:73553078	c.6393delC	p.I2132Sfs*11	HOM	Asper	176
5	ARRP	MERKT	2:112751826	c.1297-2A > G	Splicing	HOM	Reseq	39
6	ARRP	RDH12	14:68196055	c.806_810del5	p.A269Gfs*2	HOM	Reseq	136
7	ARRP	CNGA1	4:47954625	c.301C > T	p.R101*	HOM	Reseq	19
8	ADRP	RP1	8:55538471	c.2029C > T	p.R677*	HET	Asper	247
9	ADRP	PRPF3	1:150316692	c.1481C > T	p.T494M	HET	Asper	35
10	XLRP	RP2	X:46713107	c.299dupT	p.F101Vfs*23	HEMI	Sanger	24
11	STGD	ABCA4	1:94506901	c.3386G > T	p. R1129L	HET	Asper	24
		ABCA4	1:94508434	c.3210_3211insGT	p.S1071Vfs*14	HET	Asper	24
12	ARRP	NR2E3	15:72105913	c.932G > A	p.R311Q	HOM	Reseq	28
		RDH12	14:68195950	c.701G > A	p.R234H	HET	Reseq	51
13	ARRP	RHO	3:129252539	c.1025C > T	p.T342M	HOM	Reseq	29
14	ADRP	PRPH2	6:42672285	c.646C > T	p.P216S	HET	Asper	45
15	USHER	MYO7A	11:76867944	c.626C > A	p.S210*	HOM	Asper	16
16	ADRP	RHO	3:129251107	c.544G > A	p.G182S	HET	Reseq	31
17	ARRP	EYS	6:64776240	c.6714delT	p.I2239Sfs*17	HOM	Sanger	13
18	ARRP	CERKL	2:182423344	c.769C > T	p.Arg257*	HOM	Asper	73

WES: Whole Exome Sequencing; Reseq: Custom genome resequencing microarray; Asper: commercially available microarray analysis (Asper Biotech); Sanger: Sanger sequencing.