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	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