Molecular Data

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Search for:     Any field Patient ID Type Of Mutation Genic Region Nucleotide change Nucleotide Aminoacid change Codon Domain Reference Ref. Mutation comments   Contains Equals Starts with ... More than ... Less than ... Equal or more than ... Equal or less than ... Empty

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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	92	PSSM	I5	533-2A>G	533-2	-	-	-	Corrales et al. 2011	In cis with mutation p.A542G
Clinical Data	ISTH mutations	92	Missense	E14	1625C>G	1625	A542G	542	D2		In cis with mutation c.533-2A>G
Clinical Data	ISTH mutations	92	Missense	E14	1721>G	1721	P574R	574	D2		New. In trans with mutations p.A542G and c.533-2A>G