Molecular Data
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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 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