Same mutation
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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
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 More ...
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 More ...
Type 3 7603C>T R2535X No 1 type III patient is heterozygous in ex More ...
Type 2B 4010C>T P1337L Yes
Type 3 3943C>T R1315C No Sweden 1 heterozygote patient in 1 type 3 famil More ...
Type 3 7636A>T N2546Y No Patients are homozygous and of consangui More ...
Type 2B 3940G>C V1314L No