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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	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	2	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011	In homozygosis
Clinical Data	ISTH mutations	8	Missense	E28	4121G>A	4121	R1374H	1374	A1	Corrales et al. 2009
Clinical Data	ISTH mutations	9	Missense	E28	4946T>A	4946	I1649N	1649	A2	Corrales et al. 2010
Clinical Data	ISTH mutations	10	Insertion	E45	7664-7665insAG	-	C2557SfsX8	-	C2	Corrales et al. 2009	In homozygosis
Clinical Data	ISTH mutations	11	Missense	E28	4628C>T	4628	S1543F	1543	A2	Corrales et al. 2010
Clinical Data	ISTH mutations	12	Missense	E28	4883T>C	4883	I1628T	1628	A2	Corrales et al. 2010
Clinical Data	ISTH mutations	15	Missense	E28	3797C>T	3797	P1266L	1266	-	Corrales et al. 2010	Compound heterozygous in trans
Clinical Data	ISTH mutations	15	Missense	E28	4883T>C	4883	I1628T	1628	A2	Corrales et al. 2010	Compound heterozygous in trans
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	25	PSSM	E6	546G>A	546	S182S	182	D1	Corrales et al. 2011	Sinonymous mutation. Potential affected acceptor splice site of intron 5.
Clinical Data	ISTH mutations	37	Missense	E28	3835G>T	3835	V1279F	1279	A1	Corrales et al. 2009	Previously described as 2M.
Clinical Data	ISTH mutations	41	Gene conversion	E28	3835G>A	3835	V1279I	1279	A1	Corrales et al. 2009	Gene conversion in homozygosis
Clinical Data	ISTH mutations	41	Gene conversion	E28	3931C>T	3931	Q1311X	1311	A1	Corrales et al. 2009	Gene conversion in homozygosis
Clinical Data	ISTH mutations	41	Gene conversion	E28	3951C>T	3951	A1317A	1317	A1	Corrales et al. 2009	Gene conversion in homozygosis
Clinical Data	ISTH mutations	41	Gene conversion	E28	4027A>G	4027	I1343V	1343	A1	Corrales et al. 2009	Gene conversion in homozygosis
Clinical Data	ISTH mutations	41	Gene conversion	E28	4079T>C	4079	V1360A	1360	A1	Corrales et al. 2009	Gene conversion in homozygosis
Clinical Data	ISTH mutations	41	Gene conversion	E28	4105T>A	4105	F1369I	1369	A1	Corrales et al. 2009	Gene conversion in homozygosis
Clinical Data	ISTH mutations	42	Missense	E19	2446C>T	2446	R816W	816	D'	Corrales et al. 2009	In homozygosis