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 359 Missense E28 3944G>A 3944 R1315H 1315 A1 Described as type 1 and 2B. In Cis with mutation p.R1341Q
Clinical Data ISTH mutations 359 Missense E28 4022G>A 4022 R1341Q 1341 A1 Described as type 1 and 2B. In Cis with mutation p.R1315H