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	62	Nonsense	E26	3460C>T	3460	Q1154X	1154	D3	Corrales et al. 2009	Compound heterozygous in trans
Clinical Data	ISTH mutations	62	Missense	E19	2446C>T	2446	R816W	816	D'	Corrales et al. 2009	Compound heterozygous in trans