Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Reference
Ref.
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
264
PSSM
E35
5843-8C>G
5843
-
-
-
Described as SNP in VWFdb nut not in SNPdb. Unknown phase
Clinical Data
ISTH mutations
264
Missense
E36
6189C>A
6187
P2063S
2063
D4
Described as SNP and as a mutation. Unknown phase