TABLE 2.

Summary of NPC1 variants reported in this study.

Patient	cDNA	Protein	Chromosome position	Domain	Inheritance	gnomAD	Polyphen-2_HDIV Polyphen-2_HVAR	SIFT	PROVEAN	GERP++	Revel	ACMG
1	c.2816C > T	p.Pro939Leu	18:21,119,414	CTD	maternal	-	Possibly damaging Benign	D	D	Conserved	D	VUS (PM2, PP3)
	c.3749A > C	p.Tyr1250Ser	18:21,113,324	C-terminal	paternal	-	Probably damaging	D	D	Conserved	D	VUS (PM2, PP3)
2	c.3229C > T	p.Arg1077*	18:21,116,653	CTD	paternal	3.98*10–6	-	-	-	Conserved	-	LP (PVS1, PM2)
	c.1820G > T	p.Arg607Leu	18:21,125,051	MLD	maternal	-	Probably damaging	D	D	Conserved	D	VUS (PM2, PM3, PP3)

NM_000,271.5 for cDNA, and NP_000,262.2 for protein sequence. CTD, C-terminal domain; MLD, Middle luminal Domain; D, Damaging; VUS, variant of uncertain significance; LP, Likely pathogenic