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	112	INDEL	E5	375-376delGTinsC	-	Y126TfsX49	-	D1	Corrales et al. 2009	In homozygosis
Clinical Data	ISTH mutations	112	PSSM	E28	4146G>T	4146	L1382L	1382	A1	Corrales et al. 2009	In homozygosis
Clinical Data	ISTH mutations	112	Missense	E36	6197A>G	6197	N2066S	2066	D4	Corrales et al. 2009	In homozygosis