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	271	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011	Compound heterozygous in trans
Clinical Data	ISTH mutations	271	Missense	E26	3467C>T	3467	T1156M	1156	D3	Corrales et al. 2010	Compount heterozygous in trans