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. 2016 Jul 8;11(7):e0158692. doi: 10.1371/journal.pone.0158692

Table 1. Clinical phenotypes of patient, variant descriptions and pathogenicity prediction of the variants identified in this study.

S. No. Case ID Origin of patient Diagnosis Gene OMIM Disease-Causing Mutation Exon/ Intron ExAC AltFreq_All Zygosity SIFT PolyPhen2 MutationTaster2 MAPP Align GVGD Class Reference
1 27485 Switzerland adRP RHO 136880 NM_000539.3:c.170T>G:p.Leu57Arg Ex 1 - Heterozygous Deleterious Probably Damaging (0.991) Disease causing Bad C0 Sullivan (2006) Invest Ophthalmol Vis Sci 47: 3052
2 23880 Switzerland adRP PRPF8 600059 NM_006445.3:c.7000dup:p.Tyr2334Leufs*51 Ex 43 - Heterozygous NA NA NA NA NA This study
3 27536 Turkey arRP DD: LCA RPGRIP1 613826 NM_020366.3:c.2890del:p.Ser964Profs*37 Ex 17 - Homozygous NA NA NA NA NA This study
4 24718 Switzerland arCRD BEST1 611809 NM_001139443.1:c.242G>A:p.Arg81His Ex 3 0.00012 Homozygous Deleterious Probably Damaging (1.0) Disease causing Good C0 Krämer (2000) Eur J Hum Genet 8: 286
5 26165 Switzerland adRP RP1 180100 NM_006269.1:c.2613dup:p.R872Tfs*2 Ex 4 - Heterozygous NA NA NA NA NA Payne (2000) Invest Ophthalmol Vis Sci 41: 4069
6 25900 Switzerland adRP RP1 180100 NM_006269.1:c.2613dup:p.R872Tfs*2 Ex 4 - Heterozygous NA NA NA NA NA Payne (2000) Invest Ophthalmol Vis Sci 41: 4069
7 26007 Switzerland arRP CDHR1 613660 NM_033100.2:c.398C>G:p.Pro133Arg& NM_033100.2:c.439-17G>A Ex 5 & Int 5 - & 0.00002 Compound heterozygous Deleterious & NA Probably Damaging (1.0) & NA Disease causing & NA Bad & NA C0 & NA This study
8 23530 Switzerland adRP PRPF31 600138 NM_015629.3:c.548_580dup:p.Glu183_Met193dup Ex 7 - Heterozygous NA NA NA NA NA This study
9 22538 Switzerland arCRD - - Not yet identified - - - - - - - - -
10 26309 Switzerland adRP - - Not yet identified - - - - - - - - -
11 23609 Switzerland arRP - - Not yet identified - - - - - - - - -