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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
Type 2B
3946G>A
V1316M
?
Type 3
8155+3G>T
Skipping of Exon 50
Yes
Germany
Type 2B
4382C>T
A1461V
Yes
Unclassified
4105T>A
F1369I
No
Normal multimers, decreased ristocetin c
More ...
Unclassified
7390C>T
R2464C
Yes
England
Mutation associated with an abnormal mul
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Type 2B
4022G>C
R1341P
No
Type 2B
4022G>A
R1341Q
?
Type 2B
4022G>A
R1341Q
No
Type 2B
4022G>A
R1341Q
Yes
Type 2B
4022G>A
R1341Q
No
Type 2A
4514G>A
G1505E
No
Type 2M
3970G>A
G1324S
Yes
Type 2A
4514G>A
G1505E
Yes
Type 2B
3946G>A
V1316M
No
1 germ line mosaic
Type 2A
4994T>A
V1665E
No
Appears to be a de novo mutation in this
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Type 3
7603C>T
R2535X
No
1 type III patient is heterozygous in ex
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Type 2B
4010C>T
P1337L
Yes
Type 3
3943C>T
R1315C
No
Sweden
1 heterozygote patient in 1 type 3 famil
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Type 3
7636A>T
N2546Y
No
Patients are homozygous and of consangui
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Type 2B
3940G>C
V1314L
No