ISTH VWF Database
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Exon No
Alleles
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
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Same mutation 27 124 Type 1 3614G>A R1205H No Spain Casana Mutation identified in five unrelated fa More ...
Same mutation 28 22 Type 1 4808T>C L1603P No Turkey Berber VWF:Ag=14.5IU/dl, VWF:RCo=7IU/dl, FVIII: More ...
Same mutation 28 Type 2A 4790G>T R1597L No France French Network
Same mutation 28 100 Type 2A 4790G>A R1597Q No France Meyer Presented by Lavergne et al, at the ISTH More ...
Same mutation 28 Type 2A 4790G>A R1597Q No Meyer
Same mutation 28 Type 2A 4790G>A R1597Q No Sixma
Same mutation 27 6 Type 2M / Type 3 3586T>C C1196R No UK Two patients heterozygous for the mutati More ...
Same mutation 28 Type 2A 4789C>T R1597W ? Japan Saito
Same mutation 28 Type 2A 4789C>T R1597W ? England Peake
Same mutation 28 Type 2A 4789C>T R1597W ? Sixma