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	15	Missense	E28	3797C>T	3797	P1266L	1266	-	Corrales et al. 2010	Compound heterozygous in trans
Clinical Data	ISTH mutations	15	Missense	E28	4883T>C	4883	I1628T	1628	A2	Corrales et al. 2010	Compound heterozygous in trans