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	250	PSSM	E3	126C>T	126	F42F	42	D1	Corrales et al. 2012	New. Unknown phase with R854Q
Clinical Data	ISTH mutations	250	Missense	E20	2561G>A	2561	R854Q	854	Interdomain	Corrales et al. 2012	Described as type 2N. Unknown phase with F42F