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 318 Nonsense E8 970C>T 970 R324X 324 D1 Homozygous mutation. Described as type 3
Clinical Data ISTH mutations 171 PSSM I7 874+8G>A 874+8 - - - Corrales et al. 2012 New
Clinical Data ISTH mutations 23 Nonsense E52 8347C>T 8347 Q2783X 2783 CK Corrales et al. 2012 New. Compound heterozygous in trans with mutation p.Q2470X
Clinical Data ISTH mutations 355 PSSM I51 8254-5T>G 8254-5 - - - New
Clinical Data ISTH mutations 362 Missense E48 7985A>G 7985 K2662R 2662 C3 Described as type 1
Clinical Data ISTH mutations 276 PSSM I47 7887+12T>C 7887+12 - - -
Clinical Data ISTH mutations 23 Nonsense E43 7408C>T 7408 Q2470X 2470 C2 Corrales et al. 2012 Compound heterozygous in trans with mutation p.Q2783X
Clinical Data ISTH mutations 220 Missense E42 7211G>T 7211 S2404M 2404 Interdomain New
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 85 Missense E40 6932G>A 6932 R2311H 2311 B1 Corrales et al. 2009
Clinical Data ISTH mutations 32 Missense E39 6890C>T 6890 P2297L 2297 D4 Corrales et al. 2012 New
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 243 Missense E36 6197A>G 6197 N2066S 2066 D4 Corrales et al. 2010 All mutations in cis
Clinical Data ISTH mutations 112 Missense E36 6197A>G 6197 N2066S 2066 D4 Corrales et al. 2009 In homozygosis
Clinical Data ISTH mutations 181 Missense E36 6187C>T 6187 P2063S 2063 D4 Corrales et al. 2010
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 64 Missense E36 6187C>T 6187 P2063S 2063 D4 Corrales et al. 2009 Compound heterozygous in trans
Clinical Data ISTH mutations 94 Missense E36 6187C>T 6187 P2063S 2063 D4 Corrales et al. 2009
Clinical Data ISTH mutations 115 Missense E35 5890C>A 5890 Q1964K 1964 D4 Corrales et al. 2010
Clinical Data ISTH mutations 264 PSSM E35 5843-8C>G 5843 - - - Described as SNP in VWFdb nut not in SNPdb. Unknown phase