TABLE 2.

Table with identified ARSG variants including c.nomenclature (according to transcript NM_001267727.2), corresponding p.nomenclature, type of mutation, zygosity, and available published data/reference for each of the identified variants.

ID	Variant (cDNA) (NM_001267727.2) (ENST00000448504.6)	Mutation type	Variant (protein)	Zygosity	Reference
Subject 1	c.91del	Frameshift	p.(Thr31Glnfs*9)	Homozygous	This study
Subject 2	c.986del	Frameshift	p.(Gly329Glufs*35)	Heterozygous	This study
	c.338G>A	Missense	p.Gly113Asp	Heterozygous	Peter et al. 10
Subject 3	c.638C>T	Missense	p.Pro213Leu	Homozygous	This study
Subject 4	c.1150C>T	Missense	p.Arg384Trp	Heterozygous	This study
	c.219_454del	Frameshift	p.(Val75*)	Heterozygous	This study
Subject 5	c.1150C>T	Missense	p.Arg384Trp	Heterozygous	This study
	c.338G>A	Missense	p.Gly113Asp	Heterozygous	Peter et al. 10
Subject 6	c.1150C>T	Missense	p.Arg384Trp	Heterozygous	This study
	c.338G>A	Missense	p.Gly113Asp	Heterozygous	Peter et al. 10
Subject 7	c.296G>A	Missense	p.Arg99His	Homozygous	This study
Subject 8	c.1303+5G>T	Splice	p.?	Heterozygous	This study
	c.296G>A	Missense	p.Arg99His	Heterozygous	This study
Subject 9	c.1326del	Frameshift	p.(Ser443Alafs*12)	Homozygous	Felde et al.
Subject 10	c.1326del	Frameshift	p.(Ser443Alafs*12)	Homozygous	Felde et al.
Subject 11	c.1326del	Frameshift	p.(Ser443Alafs*12)	Homozygous	Felde et al.
Subject 12	c.338G>A	Missense	p.Gly113Asp	Homozygous	Peter et al. 10
Subject 13	c.1150C>T	Missense	p.Arg384Trp	Homozygous	This study