Table 2 of Tayebi, Mol Vis 2019; 25:106-117.


Table 2. Pathogenic variants identified by targeted next-generation sequencing in 36 Iranian probands affected with IRDs.

Index ID Gene Refseq Phenotype Exon/Intron Nucleotide change Protein change Zygosity Reference
066,592 ABCA4 NM_000350 STGD1 E1 c.1A>G p.(Met1?) Homo [31]
066,595 ABCA4 NM_000350 STGD1 I43 c.6005+1G>A p.? Compound het [32]
066,595 ABCA4 NM_000350 STGD1 E6 c.634C>T p.(Arg212Cys) Compound het [33]
066,599 ABCA4 NM_000350 STGD1 E30 c.4462T>C p.(Cys1488Arg) Compound het [34]
066,599 ABCA4 NM_000350 STGD1 E8 c.913C>T p.(Gln305*) Compound het [35]
066,854 ABCA4 NM_000350 RP E46 c.6385A>G p.(Ser2129Gly) Homo [36]
066,863 ABCA4 NM_000350 RP I20 c.3051–2A>G p.? Homo Novel
066,876 ABCA4 NM_000350 RP I27 c.4128+1G>A p.? Homo Novel
066,877 AIPL1 NM_014336 LCA E6 c.834G>A p.(Trp278*) Homo [37]
066,872 BBS1 NM_024649 RP E5 c.479G>A p.(Arg160Gln) Homo [38]
066,568 BBS2 NM_031885 RP E14 c.1705C>T p.(Gln569*) Compound het Novel
066,568 BBS2 NM_031885 RP I1 c.117+1G>T p.? Compound het Novel
066,574 BBS2 NM_031885 RP E2 c.224T>G p.(Val75Gly) Homo [39]
066,891 CEP290 NM_025114 LCA E54 c.7304T>G p.(Val2435Gly) Homo Novel
066,871 CERKL NM_001030311 RP E6 c.847C>T p.(Arg283*) Homo [40]
066,889;066892 CERKL NM_001030311 CRD, RP E13 c.1453_1454insA p.(Pro485Hisfs*4) Homo Novel
066,880 CRB1 NM_201253 RP E7 c.2234C>T p.(Thr745Met) Homo [41]
066,886 CRB1 NM_201253 RP E2 c.548G>A p.(Cys183Tyr) Homo Novel
066,607 GUCY2D NM_000180 LCA E12 c.2383C>T p.(Arg795Trp) Homo Novel
066,858 GUCY2D NM_000180 LCA E4 c.1216G>C p.(Asp406His) Homo Novel
066,855 LCA5 NM_001122769 RP E4 c.720+1G>A p.? Homo [42]
066,852 LRAT NM_004744 RP E2 c.487C>G p.(His163Asp) Homo Novel
066,853 LRAT NM_004744 RP E2 c.157_159dup p.(Val53dup) Homo Novel
066,882 MERTK NM_006343 RP E2 c.390G>A p.(Trp130*) Homo [43]
066,867 PDE6B NM_000283 RP E5 c.782_784del p.(Phe261del) Homo Novel
066,884 PDE6C NM_006204 CRD E12 c.1612T>A p.(Phe538Ile) Homo Novel
066,887 PDZD7 NM_001195263 RP E6 c.793A>G p.(Arg265Gly) Homo Novel
066,865 PROM1 NM_006017 RP E25 c.2461C>T p.(Arg821*) Homo Novel
066,859 RP1 NM_006269 RP E4 c.2749C>T p.(Gln917*) Homo Novel
066,885 RP1 NM_006269 RP E4 c.1498_1499del p.(Met500Valfs*7) Compound het [44]
066,885 RP1 NM_006269 RP E4 c.4105C>T p.(Gln1369*) Compound het [40]
066,860 RPE65 NM_000329 RP E12 c.1299T>A p.(Tyr433*) Homo Novel
066,864;066869 RPE65 NM_000329 RP E10 c.1102T>C p.(Tyr368His) Homo [45]
066,879 RPE65 NM_000329 RP I4 c.354–1G>A p.? Homo Novel
066,584;066866;066868 RPGRIP1 NM_020366 CRD, LCA E10 c.1306G>T p.(Ala436Ser) Homo Novel
066,878 SPATA7 NM_018418 RP E6 c.506del p.(Thr169Lysfs*25) Homo Novel