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	64	Missense	E28	4225G>T	4225	V1409F	1409	A1	Corrales et al. 2009	Compound heterozygous in trans
Clinical Data	ISTH mutations	64	Missense	E36	6187C>T	6187	P2063S	2063	D4	Corrales et al. 2009	Compound heterozygous in trans