Table 2.

List of the PIGK Variants Identified in the Subjects Included in the Study

Family	Genomic Variant (hg19)	DNA Variant (RefSeq: NM_005482.3)	Protein Variant	Inheritance	gnomAD Minor Allele Frequency (no homozygotes found for any variant)
1	chr1:g.77620297A>G	c.823T>C	p.Cys275Arg	compound heterozygous	0
1	chr1:g.77672406G>A	c.158C>T	p.Ser53Phe	compound heterozygous	0
2	chr1:g.77635060G>A	c.260C>T	p.Ala87Val	homozygous	0.000004129, highest 0.000008978 (European non-Finnish population) rs772948495
3	chr1:g.77632412T>G	c.479A>C	p.Tyr160Ser	compound heterozygous	0.00001504, highest 0.00004152 (African population)
3	chr1:g.77676171G>A	c.97C>T	p.Gln33∗	compound heterozygous	0
4	chr1:g.77632412T>G	c.479A>C	p.Tyr160Ser	compound heterozygous	0.00001504, highest 0.00004152 (African population)
4	chr1:g.77676175C>G	c.94-1G>C	splice site	compound heterozygous	0
5	chr1:g.77632412T>G	c.479A>C	p.Tyr160Ser	homozygous	0.00001504, highest 0.00004152 (African population)
6	chr1:g.77635063A>G	c.257T>C	p.Leu86Pro	homozygous	0
7	chr1:g.77629564G>A	c.551C>T	p.Ala184Val	compound heterozygous	0.000004011, highest 0.000008837 (European, non-Finnish)
7	chr1:g.77627056A>T	c.737T>A	p.Met246Lys	compound heterozygous	0
8	chr1:g.77635058C>T	c.262G>A	p.Asp88Asn	homozygous	0.0000124, highest 0.0001071 (South Asian population)
9	chr1: g.77635058C>T	c.262G>A	p.Asp88Asn	homozygous	0.0000124, highest 0.0001071 (South Asian population)