Molecular Data
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Nucleotide change
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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
9
Missense
E28
4946T>A
4946
I1649N
1649
A2
Corrales et al. 2010