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 111 Missense E28 4751A>G 4751 Y1584C 1584 A2 Corrales et al. 2012 Described as Type 1