Table 4 of Jonsson, Mol Vis 2018; 24:667-678.

Table 4. Filtering of WES data according to dominant mode of inheritance.

Gene DNA Protein gnomAD* AGVGD† SIFT‡ MutationTaster§ PolyPhen2||
ACBD5 c.1388C>T p.(Thr463Met) 0.0595 C0 Deleterious Polymorphism Benign 0.333
AHI1 c.2624–6A>G p.? 00,163 NA NA NA NA
BFSP1 c.1033G>A p.(Gly345Ser) 0.254 C0 Tolerated Polymorphism Benign 0.001
C2orf71 c.1942G>A p.(Ala648Thr) 0.01 C0 Tolerated Polymorphism Bening 0.028
CDHR1 c.2434C>T p.(Pro812Ser) 0.0319 C0 Deleterious Polymorphism Probably Damaging
CEP290 c.2512A>G p.(Lys838Glu) 0.0749 C0 Tolerated Polymorphism Benign 0.000
COL2A1 c.2094+7A>G p.? 0.0472 NA NA NA NA
GRM6 c.733A>G p.(Ile245Val) 0.0036 C0 Tolerated Disease causing Benign 0,361
HSF4 c.*8C>T p.? 0.00026   NA NA NA
LRAT c.403G>T p.(Ala135Ser) 0.0008 C0 Tolerated Disease causing Benign 0.094
LRP5 c.884–4T>C p.? 0.385 NA NA NA NA
LRP5 c.1412+8G>A p.? 0.1368 NA NA NA NA
LRP5 c.3989C>T p.(Ala1330Val) 0.1297 C0 Tolerated Polymorphism Benign 0.005
MERTK c.2309A>G p.(Glu770Gly) 0.00001 C65 Deleterious Disease causing Probably Damaging 1.0
MYO7A c.133–7C>T p.? 0.0048 NA NA NA NA
NPHP3 c.2571–7T>C p.? 0.03 NA NA NA NA
PITPNM3 c.238G>A p.(Ala80Thr) 0.2848 C0 Tolerated Polymorphism Benign 0.0
USH2A c.2522C>A p.(Ser841Tyr) 0.0061 C0 Deleterious Disease causing Probably Damaging
WFS1 c.2327A>T p.(Glu776Val) 0.0038 C0 Deleterious Disease causing Probably Damaging

In silico analysis of non-synonymous heterozygous variants in IRD genes identified by WES to be shared between 2 RP patients and absent from 6 ethnically matched controls. Prediction was performed in accordance with [14]Liu et al. [14]. *gnom AD [35]; †AGVGD [36];‡SIFT – Sorting Intolerant From Tolerant [37]; §MutationTaster [38]; ||PolyPhen2 [39].

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