Molecular Data
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Type Of Mutation
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Nucleotide change
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Aminoacid 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
32
PSSM
E28
3744A>C
3744
T1248T
1248
Interdomain
Corrales et al. 2012
New
Clinical Data
ISTH mutations
32
Missense
E39
6890C>T
6890
P2297L
2297
D4
Corrales et al. 2012
New