Molecular Data
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Type Of Mutation
Genic Region
Nucleotide change
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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
57
Deletion
E15
-
-
-
-
-
Corrales et al. 2012
New mutation identified by MPLA analysis
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
7
Deletion
E29
5096delC
5096
S1700PfsX11
1700
A3
Corrales et al. 2012
New
Clinical Data
ISTH mutations
299
Deletion
E18
2430delC
2430
P812RfsX30
812
D'
Described
Clinical Data
ISTH mutations
275
Deletion
E11-32
-
-
-
-
D2-A3
New mutation identified by MPLA analysis
Clinical Data
ISTH mutations
81
Deletion
E11
1266delCTT
1266
423delF
423
D2
Corrales et al. 2012
In frame deletion
Clinical Data
ISTH mutations
78
Duplication
E28
4678_4680dup
4678_4680
D1560dup
1560
A2
Corrales et al. 2012
New
Clinical Data
ISTH mutations
1
Duplication
E13
-
-
-
-
-
New mutation identified by MPLA analysis
Clinical Data
ISTH mutations
41
Gene conversion
E28
4027A>G
4027
I1343V
1343
A1
Corrales et al. 2009
Gene conversion in homozygosis
Clinical Data
ISTH mutations
41
Gene conversion
E28
4079T>C
4079
V1360A
1360
A1
Corrales et al. 2009
Gene conversion in homozygosis
Clinical Data
ISTH mutations
41
Gene conversion
E28
3931C>T
3931
Q1311X
1311
A1
Corrales et al. 2009
Gene conversion in homozygosis
Clinical Data
ISTH mutations
41
Gene conversion
E28
3835G>A
3835
V1279I
1279
A1
Corrales et al. 2009
Gene conversion in homozygosis
Clinical Data
ISTH mutations
41
Gene conversion
E28
4105T>A
4105
F1369I
1369
A1
Corrales et al. 2009
Gene conversion in homozygosis
Clinical Data
ISTH mutations
41
Gene conversion
E28
3951C>T
3951
A1317A
1317
A1
Corrales et al. 2009
Gene conversion in homozygosis
Clinical Data
ISTH mutations
112
INDEL
E5
375-376delGTinsC
-
Y126TfsX49
-
D1
Corrales et al. 2009
In homozygosis
Clinical Data
ISTH mutations
243
Indel
E5
375_376delGTinsC
375
Y126TfsX46
126
D1
Corrales et al. 2010
All mutations in cis
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
295
Insertion
E19
2540-2541insA
-
N847KfsX18
-
D'
Corrales et al. 2010
In homozygosis
Clinical Data
ISTH mutations
10
Insertion
E45
7664-7665insAG
-
C2557SfsX8
-
C2
Corrales et al. 2009
In homozygosis
Clinical Data
ISTH mutations
64
Missense
E36
6187C>T
6187
P2063S
2063
D4
Corrales et al. 2009
Compound heterozygous in trans