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	276	PSSM	I47	7887+12T>C	7887+12	-	-	-
Clinical Data	ISTH mutations	276	PSSM	I31	5455+1G>A	5455+1	-	-	-	Corrales et al. 2012	New. In trans with mutation p.C2235X
Clinical Data	ISTH mutations	276	Insertion	E38	6703insAGGC	6703	C2235X	2235	Interdomain	Corrales et al. 2012	New. Direct STOP. In trans with mutation c.5455+1G>A