Table 1.

Summary of SVs identified in RP-associated genes

Chr	Start	End	Length (bp)	Type of SV	Gene	Overlap with coding regions of RP-associated genes	Distance (bp)*	Frequency in in-house data	Frequency in gnomAD	Frequency in dbVar	Sample
chr6	63 957 115	63 958 454	1340	Deletion	EYS	+	–	14%	–	–	OPH217, OPH517, OPH641, OPH690, OPH861, OPH125, OPH556, OPH595, OPH693
chr6	65 001 113	65 005 820	4708	Deletion	EYS	+	–	21%	–	–	OPH125, OPH217, OPH693, OPH556
chr6	65 550 144	65 552 138	1995	Deletion	EYS	+	–	81%	–	–	All samples
chr6	65 689 153	65 694 794	5642	Deletion	EYS	+	–	31%	–	–	OPH125, OPH176, OPH531, OPH556, OPH566, OPH641, OPH693, OPH831, OPH861, OPH332
chr6	63 942 754	64 337 844	395 091	Deletion	EYS	+	–	–	–	–	OPH861
chr6	64 423 168	64 798 962	375 795	Deletion	EYS	+	–	–	–	–	OPH641
chr6	65 454 074	65 454 074	305	Insertion	EYS	+	–	17%	–	–	OPH217, OPH125, OPH447, OPH517, OPH556, OPH566, OPH690, OPH831, OPH861, OPH693
chr6	64 296 539	64 296 632	94	Deletion	EYS	–	66	–	–	56%	OPH556, OPH531, OPH517, OPH595, OPH176, OPH641, OPH566, OPH693
chr6	65 204 982	65 205 044	63	Deletion	EYS	–	157	–	2.4%	–	OPH566, OPH176, OPH690, OPH125
chr6	65 564 961	65 565 284	324	Deletion	EYS	–	154	80%	–	–	All samples
chr6	64 295 413	64 295 413	118	Insertion	EYS	–	148	27%	–	–	All samples
chr6	65 278 329	65 278 329	59	Insertion	EYS	–	59	–	2.7%	–	All samples
chr8	10 607 821	10 608 503	683	Deletion	RP1L1	+	–	–	–	–	OPH690
chr8	10 610 105	10 610 105	94	Insertion	RP1L1	+	–	15%	–	–	All samples
chr19	7 450 130	7 451 150	1021	Duplication	ARHGEF18	+	–	–	–	7.2%	OPH861, OPH831, OPH693, OPH690, OPH566, OPH556, OPH531, OPH517, OPH595

*The shortest distance between the exon boundary and SV breakpoint.

RP, retinitis pigmentosa; SV, structural variant.