Table 2 Variants identified with the WGS analysis while running an autosomal recessive model using xbrowse. Damaging effects of these mutations according to three softwares predictors was tested
Gene | Position | Function | Software prediction |
|---|---|---|---|
ANTXR2 (NM_058172.5) | Chr4:80977117 G > T | Missense c.347G > T p. Gly116Val | Polyphen score: 0.99 Polyphen prediction: probably damaging Sift score: 0 Sift prediction: damaging Mutation taster prediction: disease causing Mutation taster score: 0.99 |
ZNF618 (NM_133374.2) | Chr9:116794951 G > T | Missense c.832G > T p. Glu278* |  |