Same mutation
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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
Type 1 55G>A G19R No EU MCMDM-1VWD Mutation associated with a normal multim More ...
Type 3 (Type 1) 100C>G R34G No Turkey Peake Heterozygotes for this mutation had a ty More ...
Type 3 100C>T R34X No Spain Vidal Homozygous mutation.
Type 3 139G>C D47H No Iran Federici / Mannucci Patient homozygous for the candidate mis More ...
Type 1 147C>A S49R No Turkey Peake Family was supplied by Dr. J. Ingerslev, More ...
Type 3 171C>A C57X No Turkey Peake Family was supplied by Dr. J. Ingerslev, More ...
Type 3 191delG G64AfsX19 No Iran Federici / Mannucci Patient homozygous for the deletion and More ...
Type 3 212C>A S71X No China Jiangsu Institute of Hematology The parents of the patient were heterozy More ...
Type 3 253T>C S85P No Italy Federici / Mannucci Patient presents 3 mutations, the candid More ...
Unclassified 260A>C Y87S Yes USA Montgomery
Type 3 276delT F92LfsX11 No Italy Federici / Mannucci Patient compound heterozygous with mutat More ...
Type 2N 276_277insT D93X No France French Network The patient was heterozygous for this mu More ...
Type 3 374-387del14 G125fs No US Montgomery Found in a heterozygous state.
Type 3 375_376delGTinsC Y126TfsX49 No Spain Vidal Homozygous mutation inherited in cis wit More ...
Type 1 385C>A L129M No Canada Lillicrap
Type 3 421G>A D141N No India Federici / Mannucci Patient homozygous for the candidate mis More ...
Type 3 421G>T D141Y Yes Italy Federici / Mannucci Patient compound heterozygous with mutat More ...
Type 1 422A>G D141G No England UKHCDO
Type 3 449T>A L150E No Sweden 1 heterozygote patient in 1 type 3 famil More ...
Type 3 449T>C L150P No Spain Vidal Compound heterozygous mutation found in More ...