Table 2.

Result of WES showing the defect of the SP110.

Gene	Variant coordinates	In silico parameters∗	Allele frequencies∗∗	Type and classification∗∗∗
SP110	Chr2(GRCh37):g.231076245G>A	PolyPhen: N/A	gnomAD :-	Stop gain
	NM_080424.2:c.691C>T	Align-GVGD: N/A	ESP :-	Likely pathogenic
	p.(Gln231∗)	SIFT: N/A	1000 G :-	(class 2)
		Mutation taster: N/A	CentoMD :-
		Conservation: nt weak

Variant description based on Alamut Batch 1.7 (latest database available). ^∗Align-GVD: C0: least likely to interfere with function; C65: most likely to interfere with function; splice prediction tools: SSF, MaxEnt, and HSF. ^∗∗Exome Aggregation Consortium (ExAC) database, Exome Sequencing Project (ESP), 1000Genome project (1000G), and CentoMD 4.0. ^∗∗∗Based on ACMG recommendations.