Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Reference
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Mutation comments
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Details found: 127
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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
319
PSSM
I5
533-2A>G
533-2
-
-
-
In cis with mutation p.A542G
Clinical Data
ISTH mutations
171
PSSM
I7
874+8G>A
874+8
-
-
-
Corrales et al. 2012
New
Clinical Data
ISTH mutations
1
Duplication
E13
-
-
-
-
-
New mutation identified by MPLA analysis
Clinical Data
ISTH mutations
264
PSSM
E35
5843-8C>G
5843
-
-
-
Described as SNP in VWFdb nut not in SNPdb. Unknown phase
Clinical Data
ISTH mutations
92
PSSM
I5
533-2A>G
533-2
-
-
-
Corrales et al. 2011
In cis with mutation p.A542G
Clinical Data
ISTH mutations
275
Deletion
E11-32
-
-
-
-
D2-A3
New mutation identified by MPLA analysis
Clinical Data
ISTH mutations
276
PSSM
I31
5455+1G>A
5455+1
-
-
-
Corrales et al. 2012
New. In trans with mutation p.C2235X
Clinical Data
ISTH mutations
57
Deletion
E15
-
-
-
-
-
Corrales et al. 2012
New mutation identified by MPLA analysis
Clinical Data
ISTH mutations
276
PSSM
I47
7887+12T>C
7887+12
-
-
-
Clinical Data
ISTH mutations
197
PSSM
I45
7730-1G>C
-
-
-
-
Corrales et al. 2011
Clinical Data
ISTH mutations
271
PSSM
I45
7730-1G>C
-
-
-
-
Corrales et al. 2011
Compound heterozygous in trans
Clinical Data
ISTH mutations
225
PSSM
I15
1945+9C>T
1945
-
-
-
New
Clinical Data
ISTH mutations
295
Insertion
E19
2540-2541insA
-
N847KfsX18
-
D'
Corrales et al. 2010
In homozygosis
Clinical Data
ISTH mutations
51
PSSM
I13
1533+15G>A
1533+15
-
-
-
Described in our lab as Type 1, but no RNA afectation was described
Clinical Data
ISTH mutations
10
Insertion
E45
7664-7665insAG
-
C2557SfsX8
-
C2
Corrales et al. 2009
In homozygosis
Clinical Data
ISTH mutations
25
PSSM
I41
7082-2A>G
-
-
-
-
Corrales et al. 2011
Native acceptor splice site destroyed
Clinical Data
ISTH mutations
25
PSSM
I50
8155+3G>C
-
-
-
-
Corrales et al. 2011
No donor splice prediction
Clinical Data
ISTH mutations
2
PSSM
I29
5170+10C>T
-
-
-
-
Corrales et al. 2011
Also described as a polymorphism in the ISTH database. Mutation in homozygosis.
Clinical Data
ISTH mutations
371
PSSM
I21
2820+1G>T
2820+1
-
-
-
New. In trans with mutation c.1729+3A>G
Clinical Data
ISTH mutations
371
PSSM
I14
1729+3A>G
1729+3
-
-
-
New. In trans with mutation c.2820+1G>T