Table 2.

Summary of the different G6PD mutations identified in our study

S. No	Mutation	Exon/Intron number	HGVS nomenclature*	Amino acid change	Mutation Class(17)
1	G6PD Orissa	Exon 3	c.131C > G	p.Ala44Gly	Class III
2	G6PD Namouru	Exon 4	c.208T > C	p.Tyr70His	Class II
3	G6PD Mahidol	Exon 6	c.487G > A	p.Gly163Ser	Class III
4	G6PD Mediterranean	Exon 6	c.563C > T	p.Ser188Phe	Class II
5	G6PD Bangkok	Exon 8	c.825G > T	p.Lys275Asn	Class I
6	G6PD Kerala-Kalyan	Exon 9	c.949G > A	p.Glu317Lys	Class III
7	G6PD Chatham	Exon 9	c.1003G > A	p.Ala335Thr	Class II
8	G6PD Nashville	Exon 10	c.1178C > G	p.Arg363His	Class I
9	Novel variant 1	Exon10	c.1186C > T	p.Pro396Ala	Class I
10	Novel variant 2	Intron 10	c.1288-2A > T	Splice variant	Not known
11	G6PD Andalus	Exon 11	c.1361G > A	p.Arg454is	Class II
12	Novel variant 3	Exon 12	c.1372C > T	p.Leu458Phe	Class III

*The variants are named in accordance with the reference transcript ENST00000393562.9 (http://asia.ensembl.org/). The variants have been uploaded in the Leiden Open Variation Database for G6PD https://databases.lovd.nl/shared/genes/G6PD