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 197 PSSM I45 7730-1G>C - - - - Corrales et al. 2011
Clinical Data ISTH mutations 197 Missense E20 2561G>A 2561 R854Q 854 - Corrales et al. 2010 Both mutations sould be in the same chromosome