Molecular Data
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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