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	240	Missense	E28	3797T>C	3797	P1266L	1266	Interdomain	Corrales et al. 2012	Described as type 1, 2B and 2M. Unknown phase with 5046delT
Clinical Data	ISTH mutations	240	Deletion	E28	5046delT	5046	A1683HfsX10	1683	Interdomain	Corrales et al. 2012	New. Unknown phase with P1266L