Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
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Mutation comments
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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