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 32 PSSM E28 3744A>C 3744 T1248T 1248 Interdomain Corrales et al. 2012 New
Clinical Data ISTH mutations 32 Missense E39 6890C>T 6890 P2297L 2297 D4 Corrales et al. 2012 New