Table 3. Detailed description of the index patient mutations of STXBP2.

Gene	Variant Coordinates	In-Sluice Parameters	Allele Frequencies	Type and Classification
STXSP2	Chr19(GRCh37):g.7708130A>G	PolyPhien: Probably damaging	gnomAD: -	Missense
	NM_001272034.1:c.1139A>G	Align-GVGD: C35	ESP -	Uncertain significance
	p.(Gin380Arg)	SFT: Deleterious	1000 G -	(Class 3)
		MutationTaster Disease-causing	CentoMD -
		Conservation: nt moderate/aa high
		2/3 possible splice effect