Table 3 of Jonsson, Mol Vis 2018; 24:667-678.

Table 3. Filtering of WES data according to recessive mode of inheritance.

Gene DNA Protein gnomAD* AGVGD† SIFT‡ MutationTaster§ PolyPhen2||
BBS12 c.1399G>A p.(Asp467Asn) 0.1655 C0 Tolerated Polymorphism Benign 0,000
MERTK c.353G>A p.(Ser118Asn) 0.2273 C0 Tolerated Polymorphism Benign 0.001
RP1L1 c.2375T>C p.(Leu792Pro) 0.42 C45 Deleterious Polymorphism Benign 0.001
WFS1 c.461–9A>G p.? 0.6577 NA NA NA NA

In silico analysis of non-synonymous homozygous 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] *gnom AD [35], †AGVGD [36]; ‡SIFT – Sorting Intolerant From Tolerant [37] §MutationTaster [38]; ||PolyPhen2 [39].

Jonsson, Mol Vis 2018; 24:667-678. http://www.molvis.org/molvis/v24/667

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