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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	220	Missense	E42	7211G>T	7211	S2404M	2404	Interdomain		New
Clinical Data	ISTH mutations	275	Deletion	E11-32	-	-	-	-	D2-A3		New mutation identified by MPLA analysis
Clinical Data	ISTH mutations	299	Missense	E15	1831G>A	1831	D611N	611	D2		New
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
Clinical Data	ISTH mutations	276	PSSM	I47	7887+12T>C	7887+12	-	-	-
Clinical Data	ISTH mutations	1	Duplication	E13	-	-	-	-	-		New mutation identified by MPLA analysis
Clinical Data	ISTH mutations	51	PSSM	I13	1533+15G>A	1533+15	-	-	-		Described in our lab as Type 1, but no RNA afectation was described
Clinical Data	ISTH mutations	304	Missense	E28	4120C>T	4120	R1374C	1374	A1		Described as type 2A
Clinical Data	ISTH mutations	264	PSSM	E35	5843-8C>G	5843	-	-	-		Described as SNP in VWFdb nut not in SNPdb. Unknown phase
Clinical Data	ISTH mutations	299	Deletion	E18	2430delC	2430	P812RfsX30	812	D'		Described
Clinical Data	ISTH mutations	402	Missense	E20	2561G>A	2561	R854Q	854	D'		Described as type 2N
Clinical Data	ISTH mutations	51	Missense	E27	3614G>A	3614	R1205H	1205	Interdomain		Described as Type 1
Clinical Data	ISTH mutations	225	PSSM	I15	1945+9C>T	1945	-	-	-		New
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
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	264	Missense	E36	6189C>A	6187	P2063S	2063	D4		Described as SNP and as a mutation. Unknown phase
Clinical Data	ISTH mutations	348	Missense	E20	2561G>A	2561	R854Q	854	Interdomain		Described as type 2N
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	I14	1729+3A>G	1729+3	-	-	-		New. In trans with mutation c.2820+1G>T