Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
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Reference
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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
319
PSSM
I5
533-2A>G
533-2
-
-
-
In cis with mutation p.A542G
Clinical Data
ISTH mutations
319
Missense
E34
5761C>T
5761
R1921W
1921
Interdomain
New. In trans with mutations p.A542G and c.533-2A>G
Clinical Data
ISTH mutations
319
Missense
E14
1625C>G
1625
A542G
542
D2
In cis with mutation c.533-2A>G