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	23	Nonsense	E43	7408C>T	7408	Q2470X	2470	C2	Corrales et al. 2012	Compound heterozygous in trans with mutation p.Q2783X
Clinical Data	ISTH mutations	23	Nonsense	E52	8347C>T	8347	Q2783X	2783	CK	Corrales et al. 2012	New. Compound heterozygous in trans with mutation p.Q2470X