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 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