Molecular Data
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Type Of Mutation
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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
72
Missense
E15
1781C>G
1781
A594G
594
D2
Corrales et al. 2009