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	241	Nonsense	E28	3931C>T	3931	Q1311X	1311	A1	Corrales et al. 2010	In homozygosis