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
197
PSSM
I45
7730-1G>C
-
-
-
-
Corrales et al. 2011
Clinical Data
ISTH mutations
197
Missense
E20
2561G>A
2561
R854Q
854
-
Corrales et al. 2010
Both mutations sould be in the same chromosome