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
7
Deletion
E29
5096delC
5096
S1700PfsX11
1700
A3
Corrales et al. 2012
New