Mutation Registry


In order to search for particular mutations within the registry select an appropriate option below. Alternatively, an advanced search can be performed or an Excel file of all listed VWF mutations can be downloaded. A full alphabetical list of all VWF mutation references is also available. Should you notice any errors or omissions within the registry please contact the database manager.

Full list of all VWF mutations in order of nucleotide number or select a class of von Willebrand disease (VWD) or VWF gene region from the list below.
By VWD type By VWF gene region
Type 1 Exons 3-19
Type 2A Exons 20-27
Type 2B Exon 28
Type 2M Exons 29-52 (+ major defects)
Type 2N Promoter
Type 3    
Unclassified    

Registry scripting is kindly provided by Ross MacLachlan of RagtimeDesign
This page is maintained by Dan Hampshire
of the Department of Cardiovascular Science at the University of Sheffield