ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28		Type 2A	4789C>T	R1597W	?		Sixma
28		Type 2A	4837T>C	S1613P	Yes
25		Type 1	3379+1G>A	N/A	No	England	UKHCDO		Cumming et al., 2006
28		Type 2A	4825G>A	G1609R	Yes				Donner et al, 1993
26		Type 1	3430T>G	W1144G	Yes	USA	Montgomery	By virtue of mutation, VWF clearance is less than 3 hours.	Haberichter et al., 2006
28		Type 2A	4790G>T	R1597L	No	France	French Network
28		Type 2A	4790G>A	R1597Q	No		Meyer
28		Type 2A	4790G>A	R1597Q	No		Sixma
26		Type 2A	3437A>G	Y1146C	Yes	Germany	Schneppenheim	VWF:Ag 0.20+/-0.07; VWF:CB 0.16+/-0.06; VWF:RCo 0.07+/-0.03 FVIII:C 0.35+/-0.31 More ...	Schneppenheim et al., 2010
28		Type 2A	4789C>T	R1597W	?	Japan	Saito