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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	402	Missense	E20	2561G>A	2561	R854Q	854	D'		Described as type 2N
Clinical Data	ISTH mutations	398	Missense	E28	4943C>G	4943	P1648R	1648	A2		Described as type 2A
Clinical Data	ISTH mutations	390	Missense	E28	4751A>G	4751	Y1584C	1584	A2		Described as type 1
Clinical Data	ISTH mutations	382	Missense	E20	2561G>A	2561	R854Q	854	Interdomain		Homozygous mutation. Described as type 2N
Clinical Data	ISTH mutations	371	PSSM	I21	2820+1G>T	2820+1	-	-	-		New. In trans with mutation c.1729+3A>G
Clinical Data	ISTH mutations	371	PSSM	I14	1729+3A>G	1729+3	-	-	-		New. In trans with mutation c.2820+1G>T
Clinical Data	ISTH mutations	362	Missense	E48	7985A>G	7985	K2662R	2662	C3		Described as type 1
Clinical Data	ISTH mutations	359	Missense	E28	4022G>A	4022	R1341Q	1341	A1		Described as type 1 and 2B. In Cis with mutation p.R1315H
Clinical Data	ISTH mutations	359	Missense	E28	3944G>A	3944	R1315H	1315	A1		Described as type 1 and 2B. In Cis with mutation p.R1341Q
Clinical Data	ISTH mutations	355	PSSM	I51	8254-5T>G	8254-5	-	-	-		New
Clinical Data	ISTH mutations	348	Missense	E20	2561G>A	2561	R854Q	854	Interdomain		Described as type 2N
Clinical Data	ISTH mutations	329	Missense	E28	4120C>T	4120	R1374C	1374	A1		Described as type 2A
Clinical Data	ISTH mutations	319	Missense	E34	5761C>T	5761	R1921W	1921	Interdomain		New. In trans with mutations p.A542G and c.533-2A>G
Clinical Data	ISTH mutations	319	Missense	E14	1625C>G	1625	A542G	542	D2		In cis with mutation c.533-2A>G
Clinical Data	ISTH mutations	319	PSSM	I5	533-2A>G	533-2	-	-	-		In cis with mutation p.A542G
Clinical Data	ISTH mutations	318	Nonsense	E8	970C>T	970	R324X	324	D1		Homozygous mutation. Described as type 3
Clinical Data	ISTH mutations	312	Missense	E30	5278G>A	5278	V1760I	1760	A3		Described as type 1
Clinical Data	ISTH mutations	304	Missense	E28	4120C>T	4120	R1374C	1374	A1		Described as type 2A
Clinical Data	ISTH mutations	299	Missense	E15	1831G>A	1831	D611N	611	D2		New
Clinical Data	ISTH mutations	299	Deletion	E18	2430delC	2430	P812RfsX30	812	D'		Described