Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
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Ref.
Mutation comments
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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