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	52	PSSM	I41	7082-2A>G	-	-	-	-	Corrales et al. 2011	Compound heterozygous in trans
Clinical Data	ISTH mutations	52	Missense	E5	449T>C	449	L150P	150	D1	Corrales et al. 2009	Compound heterozygous in trans