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	51	PSSM	I13	1533+15G>A	1533+15	-	-	-		Described in our lab as Type 1, but no RNA afectation was described
Clinical Data	ISTH mutations	51	Missense	E27	3614G>A	3614	R1205H	1205	Interdomain		Described as Type 1