Table 1.

Mutation spectrum in NT5C2 gene known so far.

S. No	Mutation	Consequence	State	Origin	Reference
1	c.1379T > C	p.Leu460Pro	Homozygous	Arab Muslim origin	9
2	c.1159 + 1G > T		Homozygous	Qatari	6
3	c.86G-A	Arg 29 ter	Homozygous	2 Turkish sibs	5, 8
4	c.1225delA	Ser409Valfs436Ter	Homozygous		5
5	c.988-1G-T	Splice	Homozygous		5
6	c.445A-T	arg149-to-ter	Homozygosity		5
7	c.175+1G-A	p. Ala64Val	Homozygous		5
8	c.539+1G > T		Homozygous	Saudi Arabia	Present study