Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Reference
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
99
Missense
E21
2771G>A
2771
R924Q
924
D3
Corrales et al. 2012
Described as Type 1 and 2N. Unknown phase
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
402
Missense
E20
2561G>A
2561
R854Q
854
D'
Described as type 2N
Clinical Data
ISTH mutations
382
Missense
E20
2561G>A
2561
R854Q
854
Interdomain
Homozygous mutation. Described as type 2N
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
197
Missense
E20
2561G>A
2561
R854Q
854
-
Corrales et al. 2010
Both mutations sould be in the same chromosome
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
298
Missense
E19
2451T>A
2451
H817Q
817
D'
Described as type 2N
Clinical Data
ISTH mutations
42
Missense
E19
2446C>T
2446
R816W
816
D'
Corrales et al. 2009
In homozygosis
Clinical Data
ISTH mutations
62
Missense
E19
2446C>T
2446
R816W
816
D'
Corrales et al. 2009
Compound heterozygous in trans
Clinical Data
ISTH mutations
299
Deletion
E18
2430delC
2430
P812RfsX30
812
D'
Described
Clinical Data
ISTH mutations
299
Missense
E15
1831G>A
1831
D611N
611
D2
New
Clinical Data
ISTH mutations
72
Missense
E15
1781C>G
1781
A594G
594
D2
Corrales et al. 2009
Clinical Data
ISTH mutations
92
Missense
E14
1721>G
1721
P574R
574
D2
New. In trans with mutations p.A542G and c.533-2A>G
Clinical Data
ISTH mutations
135
Missense
E14
1672G>T
1672
D558Y
558
D2
Corrales et al. 2010
Both mutations sould be in the same chromosome
Clinical Data
ISTH mutations
92
Missense
E14
1625C>G
1625
A542G
542
D2
In cis with mutation c.533-2A>G
Clinical Data
ISTH mutations
319
Missense
E14
1625C>G
1625
A542G
542
D2
In cis with mutation c.533-2A>G
Clinical Data
ISTH mutations
167
Missense
E14
1625C>G
1625
A542G
542
D2
Corrales et al. 2010
In homozygosis