Table 1.

Variant information of subjects with biallelic variants in SLC38A3

	Family 1		Family 2	Family 3	Family 4	Family 5	Family 6			Family 7
	II-2	II-3	II-3	II-4a	II-1	II-3	II-3	II-4	III-1	II-5
Country of origin	Kuwait		USA	Saudi Arabia	Azerbaijan	Saudi Arabia	Egypt			Yemen
Consanguinity	+ (1st cousins)		–	+ (1st cousins)	+ (1st cousins)	+ (1st cousins)	+ (1st cousins)		+ (2nd cousins)	+ (1st cousins)
Position (GRCh37\hg19)	Chr3:50255273		Chr3:50255379	Chr3:50256037	Chr3:50254743	Chr3:50256106	Chr3:50256111			Chr3:50256286
			Chr3:50256148
Nucleotide (NM_006841.6); protein	c.855+1G>T		c.886G>A; p.(Ala296Thr)	c.1049C>A; p.(Ser350*)	c.622C>G; p.(Arg208Gly)	c.1119delG; p.(Leu374*)	c.1123A>C; p.(Thr375Pro)			c.1212G>A; p.(Trp404*)
			c.1160C>A p.(Pro387Gln)
Type of variant	Splicing		Missense	Nonsense	Missense	Stop-gain	Missense			Nonsense
Zygosity	Hmz		Comp Het	Hmz	Hmz	Hmz	Hmz			Hmz
Allele count/Zygosity (gnomAD)	0 Het-0 Hmz		2 Het-0 Hmz	0 Het-0 Hmz	0 Het-0 Hmz	0 Het-0 Hmz	0 Het-0 Hmz			0 Het-0 Hmz
			1 Het-0 Hmz
CADD Score GRCh37 v.1.6 (PHRED)	32		19.4	20	22.1	16.39	18.7			18.8
			17
PolyPhen-2	–		Probably damaging/probably damaging	–	Possibly damaging	–	Possibly damaging			–
SIFT	–		Damaging/damaging	–	Damaging	–	Damaging			–
Conservation (mamPhyloP)	2.36		2.3	2.37	2.49	–	1.97
			2.43
AOH block around gene (Mb)	4.9	5.1	N/A	N/A	5.5	N/A	N/A			N/A
Total AOH (Mb)	530	350	N/A	N/A	N/A	N/A	N/A			270

CADD = Combined Annotation Dependent Depletion; comp het = compound heterozygous; Het = heterozygous; Hmz = homozygous; N/A = not available; SIFT = Sorting Intolerant from Tolerant prediction score.

^aPreviously published with limited clinical data.