Table 1.

Showing the details of in silico analysis done for this study.

S. No	Online Tools	Pathogenicity Score for mutation in PUS7 gene c.606_607delGA	Pathogenicity Score for mutation AASS position gene c.1767–1 G > A
1	SIFT	0.01	0.01
2	Exome Aggregation Consortium Version 0.3.1	0.0	0.0
3	1000 Genomes	0.0	0.0
4	Polyphen-2 (v2.2.2, released in Feb 2013)	0.72	0.82
5	MutationTaster	Disease causing	Disease causing
6	MutationAssessor 2.0	1.23	2.22
7	Phastcons 1.4	1.0	1.0
8	PhyloP (phyloP46way_placental)	0.98	1.06
9	SiPhy 0.5	17.07	19.27