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	318	Nonsense	E8	970C>T	970	R324X	324	D1		Homozygous mutation. Described as type 3
Clinical Data	ISTH mutations	171	PSSM	I7	874+8G>A	874+8	-	-	-	Corrales et al. 2012	New
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
Clinical Data	ISTH mutations	355	PSSM	I51	8254-5T>G	8254-5	-	-	-		New
Clinical Data	ISTH mutations	25	PSSM	I50	8155+3G>C	-	-	-	-	Corrales et al. 2011	No donor splice prediction
Clinical Data	ISTH mutations	362	Missense	E48	7985A>G	7985	K2662R	2662	C3		Described as type 1
Clinical Data	ISTH mutations	276	PSSM	I47	7887+12T>C	7887+12	-	-	-
Clinical Data	ISTH mutations	271	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011	Compound heterozygous in trans
Clinical Data	ISTH mutations	197	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011
Clinical Data	ISTH mutations	2	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011	In homozygosis
Clinical Data	ISTH mutations	10	Insertion	E45	7664-7665insAG	-	C2557SfsX8	-	C2	Corrales et al. 2009	In homozygosis
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	220	Missense	E42	7211G>T	7211	S2404M	2404	Interdomain		New
Clinical Data	ISTH mutations	249	Missense	E42	7150C>T	7150	R2384W	2384	Interdomain	Corrales et al. 2012	New. Unknown phase with other mutations
Clinical Data	ISTH mutations	25	PSSM	I41	7082-2A>G	-	-	-	-	Corrales et al. 2011	Native acceptor splice site destroyed
Clinical Data	ISTH mutations	52	PSSM	I41	7082-2A>G	-	-	-	-	Corrales et al. 2011	Compound heterozygous in trans
Clinical Data	ISTH mutations	85	Missense	E40	6932G>A	6932	R2311H	2311	B1	Corrales et al. 2009
Clinical Data	ISTH mutations	32	Missense	E39	6890C>T	6890	P2297L	2297	D4	Corrales et al. 2012	New
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
Clinical Data	ISTH mutations	243	Missense	E36	6197A>G	6197	N2066S	2066	D4	Corrales et al. 2010	All mutations in cis