Table 2 of Tayebi, Mol Vis 2019; 25:106-117.
Index ID | Gene |
|
Phenotype | Exon/Intron | Nucleotide change | Protein change | Zygosity |
|
---|---|---|---|---|---|---|---|---|
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 |