Molecular Data
Advanced search
Search for:
Any field
Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Reference
Ref.
Mutation comments
Contains
Equals
Starts with ...
More than ...
Less than ...
Equal or more than ...
Equal or less than ...
Empty
Details found: 127
Page 1 of 7
Records Per Page:
10
20
30
50
100
500
Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Ref.
Mutation comments
Clinical Data
ISTH mutations
276
PSSM
I47
7887+12T>C
7887+12
-
-
-
Clinical Data
ISTH mutations
28
Missense
E28
4121G>A
4121
R1374H
1374
A1
Corrales et al. 2009
Clinical Data
ISTH mutations
79
Missense
E28
4120C>T
4120
R1374C
1374
A1
Corrales et al. 2009
Clinical Data
ISTH mutations
197
PSSM
I45
7730-1G>C
-
-
-
-
Corrales et al. 2011
Clinical Data
ISTH mutations
94
Missense
E36
6187C>T
6187
P2063S
2063
D4
Corrales et al. 2009
Clinical Data
ISTH mutations
72
Missense
E15
1781C>G
1781
A594G
594
D2
Corrales et al. 2009
Clinical Data
ISTH mutations
54
Missense
E28
4135C>T
4135
R1379C
1379
A1
Corrales et al. 2009
Clinical Data
ISTH mutations
261
Missense
E28
4120C>T
4120
R1374C
1374
A1
Corrales et al. 2010
Clinical Data
ISTH mutations
181
Missense
E36
6187C>T
6187
P2063S
2063
D4
Corrales et al. 2010
Clinical Data
ISTH mutations
163
Missense
E28
4120C>T
4120
R1374C
1374
A1
Corrales et al. 2010
Clinical Data
ISTH mutations
152
PSSM
I13
1533+15G>A
-
-
-
-
Corrales et al. 2011
Clinical Data
ISTH mutations
11
Missense
E28
4628C>T
4628
S1543F
1543
A2
Corrales et al. 2010
Clinical Data
ISTH mutations
85
Missense
E40
6932G>A
6932
R2311H
2311
B1
Corrales et al. 2009
Clinical Data
ISTH mutations
141
Missense
E28
4120C>T
4120
R1374C
1374
A1
Corrales et al. 2010
Clinical Data
ISTH mutations
12
Missense
E28
4883T>C
4883
I1628T
1628
A2
Corrales et al. 2010
Clinical Data
ISTH mutations
8
Missense
E28
4121G>A
4121
R1374H
1374
A1
Corrales et al. 2009
Clinical Data
ISTH mutations
58
Missense
E28
4883T>C
4883
I1628T
1628
A2
Corrales et al. 2010
Clinical Data
ISTH mutations
9
Missense
E28
4946T>A
4946
I1649N
1649
A2
Corrales et al. 2010
Clinical Data
ISTH mutations
96
Missense
E28
4883T>C
4883
I1628T
1628
A2
Corrales et al. 2010
Clinical Data
ISTH mutations
115
Missense
E35
5890C>A
5890
Q1964K
1964
D4
Corrales et al. 2010