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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

From: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

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*