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
299
Missense
E15
1831G>A
1831
D611N
611
D2
New
Clinical Data
ISTH mutations
299
Deletion
E18
2430delC
2430
P812RfsX30
812
D'
Described