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	25	PSSM	I50	8155+3G>C	-	-	-	-	Corrales et al. 2011	No donor splice prediction
Clinical Data	ISTH mutations	25	PSSM	I41	7082-2A>G	-	-	-	-	Corrales et al. 2011	Native acceptor splice site destroyed
Clinical Data	ISTH mutations	25	PSSM	E6	546G>A	546	S182S	182	D1	Corrales et al. 2011	Sinonymous mutation. Potential affected acceptor splice site of intron 5.