Table 2.

Mutations reported in the Chinese patients with GPI deficiency

Case	Exon	Mutation	Consequence	Zygosity	Reference
1	7 18	c.637 T > A c.1614C > G	p.Phe213Ile p.His538Gln	Compound heterozygous	[19]
2	6	c.553 T > A	p.Phe185Ile	Homozygous	[21]
3	6 10	c.490C > A c.817C > T	p.Pro164Thr p.Arg273Cys	Compound heterozygous	[22]
4	4 10	c.301G > A c.812delG	p.Val101Met p.Gly271Glufs*131	Compound heterozygous	current case