ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28	100	Type 2A	4943C>G	P1648R	No	Spain	Batlle	VWF:Ag 26.5 IU/dL, VWF:RCo 9.2 IU/dL.