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 243 Indel E5 375_376delGTinsC 375 Y126TfsX46 126 D1 Corrales et al. 2010 All mutations in cis
Clinical Data ISTH mutations 243 PSSM E28 4146G>T 4146 L1382L 1382 A1 Corrales et al. 2010 All mutations in cis
Clinical Data ISTH mutations 243 Missense E36 6197A>G 6197 N2066S 2066 D4 Corrales et al. 2010 All mutations in cis