Table 3.

VWF Variants Associated with VWD^*

VWD type	Nucleotide Change	Amino Acid Change	Exon	Domain	Minor Allele Frequency (%)				Overall Frequency (%)
					AFR (n=246)	AMR (n=181)	ASN (n=286)	EUR (n=379)
1	CTG-aTG	L129M†	5	D1	1.42	0	0	0	0.32
1/3	CGG-tGG	R273W	7	D1	0	0.28	0	0	0.05
1	ATG-ATt	M576I	14	D2	0	1.93	0	0	0.32
1/2M	ATG-ATa	M740I†	17	D2	19.51**	0.83	0	0	4.53
2N	CCG-CtG	P812L	18	D′	0	0	0	0.26	0.09
1	CAT-CAa	H817Q†	19	D′	13.82**	0.28	0	0	3.16
1/2N	CGG-CaG	R854Q†	20	D′	0	0.55	0	0.13	0.14
1/2N	CGG-CaG	R924Q†	21	D3	0	0.55	0	2.64	1.01
1/2A	CGG-tGG	R1583W	28	A2	0	0.28	0	0	0.05
1	TAC-TgC	Y1584C†	28	A2	0	0.55	0	0.53	0.27
2A	GGA-aGA	G1672R	28	A2	0	0	0.52	0.13	0.18
1	GTC-aTC	V1760I	30	A3	0	0	0	0.26	0.09
Unclassified	TCA-aCA	S1731T	30	A3	0	0	0	0.13	0.05
1/3	CCA-tCA	P2063S†	36	D4	0	0.83	0	0.79	0.41
1	CGG-CaG	R2185Q†	37	D4	20.73**	2.21	0	0	5.04
1	CGG-tGG	R2287W†	39	D4	2.24	0	0	0	0.5
1	CGC-CaC	R2313H†	40	B1	0.2	0.28	0	0.13	0.14
1	CGC-tGC	R2464C	43	C2	0	0	0	0.13	0.05
1	ACG-AtG	T2647M†	48	C2	0	0	0	0.92	0.32

^*Based on ISTH-SSC VWF Online Database

^**Variants with high allele frequencies in African, but low in other populations.

^†Variants that were also reported by Bellissimo, D.B. et al.[19]