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	10	108	Type 3	1110-1G>A	N/A	No	Iran	Federici / Mannucci	Patient homozygous for the potential spl More ...	Baronciani et al., 2000
Same mutation	10	108	Type 3	1117C>T	R373X	No	India	Federici / Mannucci	Patient homozygous for the nonsense muta More ...	Baronciani et al., 2000
Same mutation	10	40	Type 3	1131G>T	W377C	?	Germany	Schneppenheim	Candidate missense mutation; the patient More ...	Schneppenheim et al., 1994
Same mutation	11		Type 2A	1212ins6 (AATCCC)	F404insNP	Yes	Sweden	Holmberg	Patient also compound heterozygote for a More ...	Holmberg et al, 1998
Same mutation	11		Type 3	1280T>A	I427N	No	France	Mazurier	The propositus is homozygous for the mut More ...
Same mutation	12	10	Type 2A	1309-1326del	D437-R442del	Yes	USA	Montgomery	VWF from abnormal allele has no ristocet More ...
Same mutation	12		Type 2A	1309_1326del	D437_R442del	Yes	England	Mazurier	Patient heterozygous for this deletion. More ...	Armitage & Rizza, 1979
Same mutation	13	200	Type 1	1533+15G>A	Not Determined	No	Spain	Vidal
Same mutation	14	202	Type 3	1534-3C>A	L512PfsX11	No	Italy	Bertina / Eikenboom	Acceptor slice site mutation 3' intron 1 More ...	Eikenboom et al., 1998
Same mutation	14	2	Type 1	1728G>T	M576I	No	Canada	Lillicrap		James et al., 2007