ISTH VWF Database

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	Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
Same mutation	24	206	Type 1	3179G>A	C1060Y	No	EU	MCMDM-1VWD	Mutation heterozygous. VWF:Ag 36IU/dL, V More ...	Hampshire et al., 2010
Same mutation	18	226	Type 2N	2365A>C	T789P	No	Iran		Mutation found to be homozygous in affec More ...	Enayat et al., 2010
Same mutation	18	212	Type 2N	2365G>C	A789P	No	UK		Patient's phenotype was characterized by More ...	Enayat et al., 2010
Same mutation	26		Type 2A	3437A>G	Y1146C	Yes	Germany	Schneppenheim	VWF:Ag 0.20+/-0.07; VWF:CB 0.16+/-0.06; More ...	Schneppenheim et al., 2010
Same mutation	31	6	Type 2M	5356C>G	H1786D	Yes	USA	Montgomery, ZPMCB-VWD	The mutation results in defective bindin More ...	Flood et al., 2010
Same mutation	30	6	Type 2M	5235G>T	W1745C	Yes	UK	Gomez	VWF:Ag=29IU/dL, VWF:RCo=27IU/dL, VWF:CB( More ...	Riddell et al., 2009
Same mutation	31	4	Type 2M	5347T>G	S1783A	Yes	UK	Gomez	VWF:Ag=68IU/dL, VWF:RCo=66IU/dL, VWF:CB More ...	Riddell et al., 2009
Same mutation	Deletion exons 04-05	310	Type 1 / 3	221-977_532+7059del	D75_G178del	Yes	England	University Department of Haematology, Ma More ...	Result of Alu-mediated homologous recomb More ...	Sutherland et al., 2009
Same mutation	26	100	Type 2A	3445T>C	C1149R	No	Spain	Batlle	VWF:Ag 8.0 IU/dL, VWF:RCo 5.0 IU/dL, FVI More ...	Pérez-Rodríguez et al., 2009
Same mutation	28	200	Type 2A	4121G>A	R1374H	No	Spain	Vidal	VWF:Ag 43%, VWF:RCo 7%, FVIII:C 42%, ABO More ...	Corrales et al., 2009