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	93	Missense	E28	3917G>A	3917	R1306Q	1306	A1		Described as 2B. Unknown phase with mutation p.R854Q
Clinical Data	ISTH mutations	93	Missense	E20	2561G>A	2561	R854Q	854	Interdomain		Described as type 1 or 2N. Unknown phase with mutation p.R1306Q