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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	152	PSSM	I13	1533+15G>A	-	-	-	-	Corrales et al. 2011
Clinical Data	ISTH mutations	57	Deletion	E15	-	-	-	-	-	Corrales et al. 2012	New mutation identified by MPLA analysis
Clinical Data	ISTH mutations	197	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011
Clinical Data	ISTH mutations	271	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011	Compound heterozygous in trans
Clinical Data	ISTH mutations	295	Insertion	E19	2540-2541insA	-	N847KfsX18	-	D'	Corrales et al. 2010	In homozygosis
Clinical Data	ISTH mutations	1	Duplication	E13	-	-	-	-	-		New mutation identified by MPLA analysis
Clinical Data	ISTH mutations	167	PSSM	I5	533-2A>G	-	-	-	-	Corrales et al. 2011	In homozygosis
Clinical Data	ISTH mutations	112	INDEL	E5	375-376delGTinsC	-	Y126TfsX49	-	D1	Corrales et al. 2009	In homozygosis
Clinical Data	ISTH mutations	52	PSSM	I41	7082-2A>G	-	-	-	-	Corrales et al. 2011	Compound heterozygous in trans
Clinical Data	ISTH mutations	10	Insertion	E45	7664-7665insAG	-	C2557SfsX8	-	C2	Corrales et al. 2009	In homozygosis
Clinical Data	ISTH mutations	2	PSSM	I29	5170+10C>T	-	-	-	-	Corrales et al. 2011	Also described as a polymorphism in the ISTH database. Mutation in homozygosis.
Clinical Data	ISTH mutations	25	PSSM	I41	7082-2A>G	-	-	-	-	Corrales et al. 2011	Native acceptor splice site destroyed
Clinical Data	ISTH mutations	25	PSSM	I50	8155+3G>C	-	-	-	-	Corrales et al. 2011	No donor splice prediction
Clinical Data	ISTH mutations	275	Deletion	E11-32	-	-	-	-	D2-A3		New mutation identified by MPLA analysis
Clinical Data	ISTH mutations	2	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011	In homozygosis
Clinical Data	ISTH mutations	47	Nonsense	E3	100C>T	100	R34X	34	D1	Corrales et al. 2009	In homozygosis
Clinical Data	ISTH mutations	288	Missense	E9	1109G>A	1109	C370Y	370	D1	Corrales et al. 2012	New
Clinical Data	ISTH mutations	250	PSSM	E3	126C>T	126	F42F	42	D1	Corrales et al. 2012	New. Unknown phase with R854Q
Clinical Data	ISTH mutations	81	Deletion	E11	1266delCTT	1266	423delF	423	D2	Corrales et al. 2012	In frame deletion
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