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
243
Indel
E5
375_376delGTinsC
375
Y126TfsX46
126
D1
Corrales et al. 2010
All mutations in cis
Clinical Data
ISTH mutations
243
PSSM
E28
4146G>T
4146
L1382L
1382
A1
Corrales et al. 2010
All mutations in cis
Clinical Data
ISTH mutations
243
Missense
E36
6197A>G
6197
N2066S
2066
D4
Corrales et al. 2010
All mutations in cis