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	37	Missense	E28	3835G>T	3835	V1279F	1279	A1	Corrales et al. 2009	Previously described as 2M.