Table 1

Summary of SVs identified in RP-associated genes

ChrStartEndLength (bp)Type of SVGeneOverlap with coding regions of
RP-associated genes
Distance (bp)*Frequency in in-house dataFrequency in gnomADFrequency in dbVarSample
chr663 957 11563 958 4541340DeletionEYS+14%OPH217, OPH517, OPH641,
OPH690, OPH861, OPH125,
OPH556, OPH595, OPH693
chr665 001 11365 005 8204708DeletionEYS+21%OPH125, OPH217, OPH693,
OPH556
chr665 550 14465 552 1381995DeletionEYS+81%All samples
chr665 689 15365 694 7945642DeletionEYS+31%OPH125, OPH176, OPH531,
OPH556, OPH566, OPH641,
OPH693, OPH831, OPH861,
OPH332
chr663 942 75464 337 844395 091DeletionEYS+OPH861
chr664 423 16864 798 962375 795DeletionEYS+OPH641
chr665 454 07465 454 074305InsertionEYS+17%OPH217, OPH125, OPH447,
OPH517, OPH556, OPH566,
OPH690, OPH831, OPH861,
OPH693
chr664 296 53964 296 63294DeletionEYS6656%OPH556, OPH531, OPH517,
OPH595, OPH176, OPH641,
OPH566, OPH693
chr665 204 98265 205 04463DeletionEYS1572.4%OPH566, OPH176, OPH690,
OPH125
chr665 564 96165 565 284324DeletionEYS15480%All samples
chr664 295 41364 295 413118InsertionEYS14827%All samples
chr665 278 32965 278 32959InsertionEYS592.7%All samples
chr810 607 82110 608 503683DeletionRP1L1+OPH690
chr810 610 10510 610 10594InsertionRP1L1+15%All samples
chr197 450 1307 451 1501021DuplicationARHGEF18+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.