Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Ref.
Mutation comments
Clinical Data ISTH mutations 99 Missense E28 3797C>T 3797 P1266L 1266 Interdomain Corrales et al. 2012 Described as Type 1 and 2B. Unknown phase
Clinical Data ISTH mutations 249 Missense E42 7150C>T 7150 R2384W 2384 Interdomain Corrales et al. 2012 New. Unknown phase with other mutations
Clinical Data ISTH mutations 276 Insertion E38 6703insAGGC 6703 C2235X 2235 Interdomain Corrales et al. 2012 New. Direct STOP. In trans with mutation c.5455+1G>A
Clinical Data ISTH mutations 240 Missense E28 3797T>C 3797 P1266L 1266 Interdomain Corrales et al. 2012 Described as type 1, 2B and 2M. Unknown phase with 5046delT
Clinical Data ISTH mutations 240 Deletion E28 5046delT 5046 A1683HfsX10 1683 Interdomain Corrales et al. 2012 New. Unknown phase with P1266L
Clinical Data ISTH mutations 250 Missense E20 2561G>A 2561 R854Q 854 Interdomain Corrales et al. 2012 Described as type 2N. Unknown phase with F42F
Clinical Data ISTH mutations 232 Missense E20 2561G>A 2561 R854Q 854 Interdomain Corrales et al. 2012 Described as type 1 and 2N
Clinical Data ISTH mutations 223 Missense E20 2561G>A 2561 R854Q 854 Interdomain Corrales et al. 2012 Described as type 1 and 2N
Clinical Data ISTH mutations 220 Missense E42 7211G>T 7211 S2404M 2404 Interdomain New
Clinical Data ISTH mutations 196 Missense E28 3788C>T 3788 S1263L 1263 Interdomain Corrales et al. 2012 No mutation identified in the 2N region
Clinical Data ISTH mutations 319 Missense E34 5761C>T 5761 R1921W 1921 Interdomain New. In trans with mutations p.A542G and c.533-2A>G
Clinical Data ISTH mutations 32 PSSM E28 3744A>C 3744 T1248T 1248 Interdomain Corrales et al. 2012 New
Clinical Data ISTH mutations 348 Missense E20 2561G>A 2561 R854Q 854 Interdomain Described as type 2N
Clinical Data ISTH mutations 93 Missense E20 2561G>A 2561 R854Q 854 Interdomain Described as type 1 or 2N. Unknown phase with mutation p.R1306Q
Clinical Data ISTH mutations 51 Missense E27 3614G>A 3614 R1205H 1205 Interdomain Described as Type 1
Clinical Data ISTH mutations 382 Missense E20 2561G>A 2561 R854Q 854 Interdomain Homozygous mutation. Described as type 2N
Clinical Data ISTH mutations 99 PSSM E28 3789G>A 3789 S1263S 1263 Interdomain Corrales et al. 2012 Described as SNP in VWFdb nut not in SNPdb. Unknown phase
Clinical Data ISTH mutations 264 Missense E36 6189C>A 6187 P2063S 2063 D4 Described as SNP and as a mutation. Unknown phase
Clinical Data ISTH mutations 32 Missense E39 6890C>T 6890 P2297L 2297 D4 Corrales et al. 2012 New
Clinical Data ISTH mutations 181 Missense E36 6187C>T 6187 P2063S 2063 D4 Corrales et al. 2010