Table 4.

Haplotype block analysis according to Gabriel et al. [31]

	Block 1			Recombination between blocksd	Block 2				Recombination between blocksd	Block 3			Recombination between blocksd	Block 4
Variant positiona,b	c.809 + 54C >A	c.809 + 64C>G	Haplotype frequency		c.825 T>C p.Val275=	c.1062 T>C p.Asn354=	c.1218 + 8A>G	Haplotype frequency		c.1678-37G > A	c.1684 T > C p.Leu562=	Haplotype frequency		c.4126-45G > A	c.4487 + 18G N A	Haplotype frequency
Haplotypesc	C	C	0.686	0.65	T	T	A	0.659	0.45	A	C	0.870	0.27	A	G	0.447
	A	G	0.231		C	C	G	0.300		G	T	0.130		G	G	0.405
	C	G	0.082		T	C	G	0.021						G	A	0.148
	others		0.001		T	C	A	0.011
					others			0.009

^aPosition according to reference sequences for coding nucleotides NM_004996.3 and amino acid residues NP_004987.2. ^bBold variants signify haplotype tag SNPs (htSNPs). ^cMajor alleles in white boxes, minor alleles in shaded boxes; all the haplotypes with their frequencies in population; haplotypes below 1 % grouped as “others”. ^dLevel of recombination between blocks as a value of multiallelic D’