TABLE 2.

PGAP2 variants reported in HPMRS3 patients

S. no	Variant a	Consequence	State	Origin	Reference
1	c.296A > G	p.Tyr99Cys	Homozygous	Syrian	Hansen et al. 8
2	c.530G > C	p.Arg177Pro	Homozygous	Pakistani	Hansen et al. 8
3	c.46C > T c.479C > T	p.Arg16Trp p.Thr160Ile	Heterozygous	Finnish	Krawitz et al. 12
4	c.380 T > C	p.Leu127Ser	Homozygous	Turkish	Krawitz et al. 12
5	c.191C > T b	p. Ala64Val	Homozygous	Saudi Arabia	Naseer et al. 16
6	c.2 T > G c.221G > A	p.? p.Arg74His	Heterozygous	Polish	Jezela‐Stanek et al. 15
7	c.554G > A	p.His185Gln	Homozygous	Bedouin	Perez et al. 14
8	c.[698C > T]	p.Thr233Met	Homozygous	NA	Thompson et al. 42
9	c.103del c.134A > G	p.Leu35Serfs*90p.His45Arg	Heterozygous	Afro‐Carribean	Present study

^a Variants listed on transcript NM_001256240.2 other than c.191C > T from Naseer et al. (see [2]).

^b Annotated on transcript NM_014489.4.