TABLE 2.

Annotation of the novel mutations of the ARSB gene.

Variant	Mutation type	dbSNP ID	Allele frequency (gnomAD)	Mutation Taster	PolyPhen-2	SIFT	PROVEAN	Criteria ACMG	Variant classification (ACMG category)
NM_000046.5:c.304C>G (NP_000037.2p:Arg102Gly)	missense	No	NA	Disease causing	deleterious	deleterious	Deleterious	PM1, PM2, PP2, PP3	Likely pathogenic
NM_000046.5:c.533A>G NP_000037.2p:His178Arg	missense	No	NA	Disease causing	deleterious	deleterious	Deleterious	PM1, PM2, PM5, PP2, PP3	Likely pathogenic
NM_000046.5:c.941T>C NP_000037.2p:Leu314Pro	missense	No	NA	Disease causing	deleterious	deleterious	Deleterious	PM1, PM2, PP2, PP3	Likely pathogenic
NM_000046.5:c.447_456del NP_000037.2:p.Gly149fs	Frame-shift deletion	No	NA	Disease causing	NA	NA	NA	PVS1, PM2, PP3	Pathogenic
NM_000046.5:c.990_1003del NP_000037.2:p.Phe331fs	Frame-shift deletion	No	NA	Disease causing	NA	NA	NA	PVS1, PM2, PP3	Pathogenic