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 299 Missense E15 1831G>A 1831 D611N 611 D2 New
Clinical Data ISTH mutations 299 Deletion E18 2430delC 2430 P812RfsX30 812 D' Described