Same mutation
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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Type 2A 4517C>T S1506L ? Israel Inbal
Type 3 Exon 18 deletion ? ? Italy Schneppenheim 1 index patient is heterozygous for Delt More ...
Type 2A 4942C>T P1648S ?
Type 2B 3946G>A V1316M ? US Montgomery
Type 2A 4883T>C I1628T ? Also reported as polymorphism in French More ...
Type 2B 3946G>A V1316M ? Canada Lillicrap Germinal Mosaic
Type 2A 4517C>T S1506L ? Daly
Type 3 Exon 18 deletion ? ? Poland Schneppenheim 4 index patients are homozygous for Delt More ...
Type 2M 3614G>A R1205H ? Italy Schneppenheim Found also in one German patient and in More ...
Type 2B 3946G>A V1316M ?
Type 3 2435delC P812RfsX31 ? Germany Schneppenheim 2 patients were homozygous, 3 were heter More ...
Type 2N 2372C>T T791M ? Germany Schneppenheim
Type 2A 4789C>T R1597W ? Japan Saito
Type 2N 3178T>C C1060R ? France Mazurier One patient is homozygous, the others ar More ...
Type 3 4886delG 1629 frameshift to terminus ? Germany Schneppenheim Patient was heterozygous.
Type 2B 3797C>T P1266L ? Germany Ruggeri Investigated four patients from three un More ...
Unclassified 4135C>T R1379C ? Spain Casana
Type 2A 4789C>T R1597W ? England Peake
Type 2B 4022G>A R1341Q ?
Type 3 7603C>T R2535X ? Germany Schneppenheim One patient was homozygous.