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	17	536	Type 2M	2220G>A	M740I	No	Italy	Rodeghiero		Castaman et al, 2000
Same mutation	20	424	Type 2N	2561G>A	R854Q	No	Netherlands	Bertina	All patients heterozygous, second allele More ...	Eikenboom et al, 1993
Same mutation	21	376	Type 2N	2771G>A	R924Q	Yes	Argentina	Lazzari	Previously reported as a polymorphism (H More ...	Casais et al., 2006
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	20	304	Type 2N	2561G>A	R854Q	Yes	Argentina	Lazzari
Same mutation	30	300	Unclassified	5191T>A	S1731T	Yes	France	French Network	New variant of VWD with a defective bind More ...	Ribba et al., 2001
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	21	220	Type 1	2820+1G>C	N/A	Yes	EU	MCMDM-1VWD	Mutation results in the skipping of exon More ...	Goodeve et al., 2007
Same mutation	2	218	Type 1	55G>A	G19R	No	EU	MCMDM-1VWD	Mutation associated with a normal multim More ...	Goodeve et al., 2007
Same mutation	Promoter	218	Type 1	-1896C>T	N/A	No	EU	MCMDM-1VWD	103 control samples were screened for th More ...	Goodeve et al., 2007