Table 3.

Known human H6PD gene deletion and missence variants

Region	dbSNP allele	Function	Clinically association	Accession No.
Exon 2	Del −1 to −8(acccaggc)	5’ UTR	polymorphism	Present study
	c.325delc; p.R109AfsX3	frameshift	CRD	[10]
	c.452a>c; p.D151A	missense	polymorphism	Present study NM_004285
	c.525c>t; p.R169W	missense	N/A	NM_004285
Exon 3	c.653g>a; p.R218Q	missense	N/A	NM_004285
	c.948c>g; p.Y316X	nonsense	CRD	[10]
	c.692g>a; p.R231Q	missense	N/A	NM_004285
Exon 4	c.857c>t; p.A286V	missense	N/A	NM_004285
	c.960g>a;	Splicing	CRD	[10]
Exon 5	c.1076g>a; p.G359D	missense	CRD	[10]
	c.1187g>a; p.R396Q	missense	N/A	NM_004285
	c.1204a>g; p.I402V	missense	N/A	Present study
	c.1301c>a; p.P434H	missense	N/A	NM_004285
	c.1318g>a; p.G440S	missense	N/A	NM_004285
	c.1442g>a; p.A448T	missense	N/A	NM_004285
	c.1358g>a; p.R453Q	missense	polymorphism	Present study NM_004285 [10, 17, 18, 20, 22]
	c.1450a>g; p.N484D	missense	N/A	Present study NM_004285
	c.1555c>t; p.R519W	missense	N/A	NM_004285
	c.1661c>t; p.P554L	missense	polymorphism	Present study NM_004285
	c.1820a>c; p.Y607S	missense	N/A	NM_004285
	c.1860ins29bp;p.D620fsX3	frameshift	CRD	[10]

Bold indicates causative mutants that have been reported in CRD.