Table 1 Overview of all copy number variants (CNVs) identified in the cohort
From: Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort
Family | Phenotype | Gene | Variant (hg38) | Effect | Zygosity | Size | Consanguinity | ROH | Reference |
|---|---|---|---|---|---|---|---|---|---|
F3 | CRD | CDHR1 NM_033100.4 | chr10:84208174-84219276 | E11-17 del | hom | 11.1 kb | not reported | 8.01 Mb | This study |
F20 | RP | EYS NM_001142800.2 | chr6:64997582-65057727 | E13-14 del | hom | 60.1 kb | first cousins | 40.82 Mb | |
F21 | RP | EYS NM_001142800.2 | chr6:64997582-65057727 | E13-14 del | het | 60.1 kb | unknown | no | |
F55 | RP | CHM NM_000390.4 | chrX:86047484-86047532 | E1 del | hemi | 48 bp | first cousins | / | This study |
F60 | RP | NPHP1 NM_001128178.3 | chr2:110091603-110212771 | entire gene del | hom | 121.2 kb | first cousins | 38.19 Mb | |
F67 | RP | RD3 NM_001164688.2 | chr1:211481120-211481415 | E2 del | hom | 295 bp | first cousins | 30.88 Mb | This study |
F95 | LCA | RD3 NM_001164688.2 | chr1:211479036-211479327 | E3 del | hom | 291 bp | second cousins | 8.77 Mb | This study |
F111 | Early RCD with macular dystrophy | CDH3 NM_001793.6 | chr16:68645380-68645750 | E1-2 del | hom | 370 bp | second cousins | 26.03 Mb | This study |
F158 | LCA | NMNAT1 NM_022787.4 | chr1:9981031-9982701 | E4-5 del | het | 1.7 kb | second cousins | no | |
F173 | Clumped pigmentary RD | CNGA1 NM_001379270.1 | chr4:47936421-47943412 | E7-11 del | hom | 7.0 kb | first cousins | 40.86 Mb | This study |
F186 | STGD | ABCA4 NM_000350.3 | chr1:93993073-93993242 | E50/UTR del | het | 169 bp | second cousins | no | This study |
