Table 1.
Overview of pathogenic SVs identified in IRD patients.
| NO. | Gene | Disease/ Inheritance | SV | Zyg | Genomic Positions (hg38) | Consequence | First Report Study |
|---|---|---|---|---|---|---|---|
| 1 | ABHD12 |
RP/ AR |
inv | Het | chr20:25313454–25555587 | Exons 1-6 del | This study |
| 2 | CHM | Choroideremia/XL | del | Hem | chrX:85877526–85879620 | Exon 13 del | This study |
| 3 | CHM | Choroideremia/XL | del | Hem | chrX:85939182–86023133 | Exons 3-8 del | This study |
| 4 | CRB1 |
RP/ AR |
del | Het | chr1:197259028–197272940 | Exon 1 del | This study |
| 5 | DRAM2 |
CRD/ AR |
del | Het | chr1:111124590–111125146 | Exon 5 del | This study |
| 6 | EYS |
RP/ AR |
del | Het | chr6:64915646–65010155 | Exons 14-15 del | This study |
| 7 | EYS |
RP/ AR |
del | Het | chr6:64389138–64488837 | Exons 27-28 del | This study |
| 8 | EYS |
RP/ AR |
del | Het | chr6:64620376–64627760 | Exon 23 del | This study |
| 9 | EYS |
RP/ AR |
del | Het | chr6:64911543–64913167 | Exon 16 del | This study |
| 10 | EYS |
RP/ AR |
del | Het | chr6:64956270–65164613del | Exons 13-14 del | This study |
| 11 | PDE6B |
RP/ AR |
del | Hom | chr4:633534–637421 | Exons 2-3 del | This study |
| 12 | PRPF31 |
RP/ AD |
del | Het | chr19:54064664–54133055 | Complete gene del | This study |
| 13 | PRPF31 |
RP/ AD |
del | Het | chr19:54099322–54133113 | Complete gene del | This study |
| 14 | PRPF31 |
RP/ AD |
del | Het | chr19:53996498–54132343 | Complete gene del | This study |
| 15 | PRPF31 |
RP/ AD |
del | Het | chr19:54118226–54122901 | Exons 2-5 del | This study |
| 16 | PROM1 |
RP/ AR |
del | Het | chr4:16012199–16038605 | Exons 3-10 del | This study |
| 17 | PROM1 |
RP/ AR |
del | Het | chr4:16031002–16041704 | Exons 2-4 del | This study |
| 18 | PROM1 |
RP/ AR |
del | Hom/Het | chr4:15992516–15997089 | Exon 15 del | This study |
| 19 | PROM1 |
STGD/ AD |
del | Het | chr4:15992516–15997089 | Exon 15 del | This study |
| 20 | RS1 |
Retinoschisis/ XL |
del | Hem | chrX-18644599–18650206 | Exons 4-5 del | This study |
| 21 | TULP1 |
RP/ AR |
del | Het | chr6:35502609–35506996 | Exons 8-12 del | This study |
| 22 | USH2A |
RP/ AR |
del | Het | chr1:216072986–216073478 | Exon 28 del | This study |
Zyg zygosity, inv inversion, del deletion, Hem hemizygous, Het heterozygous, Hom homozygous, chr chromosome.