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Comments |
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Type 1
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5545G>A
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V1850M
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No
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England
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UKHCDO
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This mutation did not completely segrega More ...
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Type 1
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3179G>A
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C1060Y
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No
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EU
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MCMDM-1VWD
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Mutation heterozygous. VWF:Ag 36IU/dL, V More ...
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Type 1
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6433C>T
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P2145S
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No
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EU
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MCMDM-1VWD
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Mutation associated with a normal multim More ...
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Type 1
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3281T>C
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I1094T
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No
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EU
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MCMDM-1VWD
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Mutation associated with a normal multim More ...
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Type 1
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6311C>T
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T2104I
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No
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Canada
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Lillicrap
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Type 1
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6187C>T
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P2063S
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No
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Canada
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Lillicrap
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Occurred with a frequency of 0.25 in una More ...
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Type 1
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3332G>A
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C1111Y
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No
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Canada
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Lillicrap
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Type 1
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3379+1G>A
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N/A
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No
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England
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UKHCDO
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Type 1
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3430T>G
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W1144G
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Yes
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USA
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Montgomery
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By virtue of mutation, VWF clearance is More ...
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Type 1
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5890C>A
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Q1964K
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No
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Spain
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Vidal
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VWF:Ag 33%, VWF:RCo 42%, FVIII:C 45%. Pa More ...
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Type 1
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6599-20A>T
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N/A
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No
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Canada
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Lillicrap
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Splice-site mutation.
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Type 1
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5471C>A
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P1824H
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No
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Spain
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Casana
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Very low VWF levels. Moderate-to-severe More ...
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Type 1
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5465T>G
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V1822G
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No
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EU
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MCMDM-1VWD
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Mutation associated with an abnormal mul More ...
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Type 1
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5453A>G
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N1818S
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No
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Canada
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Lillicrap
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Type 1
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5380A>G
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K1794E
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No
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EU
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MCMDM-1VWD
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Mutation associated with a normal multim More ...
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Type 1
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3389G>T
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C1130F
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No
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Italy
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Bertina
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Similar phenotype as C1149R, thus possib More ...
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Type 1
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5335C>T
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R1779X
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No
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EU
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MCMDM-1VWD
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Mutation associated with an abnormal mul More ...
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Type 1
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5321T>C
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L1774S
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No
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EU
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MCMDM-1VWD
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Mutation associated with a normal multim More ...
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Type 1
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2770C>T
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R924W
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No
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Canada
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Lillicrap
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Type 1
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3379+1G>A
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N/A
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No
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Canada
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Lillicrap
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Splice-site mutation.
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