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	111	Missense	E28	4751A>G	4751	Y1584C	1584	A2	Corrales et al. 2012	Described as Type 1
Clinical Data	ISTH mutations	249	PSSM	E28	4923G>A	4923	R1641R	1641	A2	Corrales et al. 2012	New. Unknown phase with other mutations
Clinical Data	ISTH mutations	249	PSSM	E28	4917G>A	4917	L1639L	1639	A2	Corrales et al. 2012	New. Unknown phase with other mutations
Clinical Data	ISTH mutations	288	Missense	E9	1109G>A	1109	C370Y	370	D1	Corrales et al. 2012	New
Clinical Data	ISTH mutations	240	Missense	E28	3797T>C	3797	P1266L	1266	Interdomain	Corrales et al. 2012	Described as type 1, 2B and 2M. Unknown phase with 5046delT
Clinical Data	ISTH mutations	240	Deletion	E28	5046delT	5046	A1683HfsX10	1683	Interdomain	Corrales et al. 2012	New. Unknown phase with P1266L
Clinical Data	ISTH mutations	250	Missense	E20	2561G>A	2561	R854Q	854	Interdomain	Corrales et al. 2012	Described as type 2N. Unknown phase with F42F
Clinical Data	ISTH mutations	250	PSSM	E3	126C>T	126	F42F	42	D1	Corrales et al. 2012	New. Unknown phase with R854Q
Clinical Data	ISTH mutations	232	Missense	E20	2561G>A	2561	R854Q	854	Interdomain	Corrales et al. 2012	Described as type 1 and 2N
Clinical Data	ISTH mutations	223	Missense	E20	2561G>A	2561	R854Q	854	Interdomain	Corrales et al. 2012	Described as type 1 and 2N
Clinical Data	ISTH mutations	205	Missense	E28	4751A>G	4751	Y1584C	1584	A2	Corrales et al. 2012	Described as Type 1
Clinical Data	ISTH mutations	171	PSSM	I7	874+8G>A	874+8	-	-	-	Corrales et al. 2012	New
Clinical Data	ISTH mutations	249	Missense	E30	5311G>A	5311	G1771R	1771	A3	Corrales et al. 2012	New. Unknown phase with other mutations
Clinical Data	ISTH mutations	196	Missense	E28	3788C>T	3788	S1263L	1263	Interdomain	Corrales et al. 2012	No mutation identified in the 2N region
Clinical Data	ISTH mutations	32	Missense	E39	6890C>T	6890	P2297L	2297	D4	Corrales et al. 2012	New
Clinical Data	ISTH mutations	99	PSSM	E28	3789G>A	3789	S1263S	1263	Interdomain	Corrales et al. 2012	Described as SNP in VWFdb nut not in SNPdb. Unknown phase
Clinical Data	ISTH mutations	99	Missense	E28	3797C>T	3797	P1266L	1266	Interdomain	Corrales et al. 2012	Described as Type 1 and 2B. Unknown phase
Clinical Data	ISTH mutations	99	Missense	E21	2771G>A	2771	R924Q	924	D3	Corrales et al. 2012	Described as Type 1 and 2N. Unknown phase
Clinical Data	ISTH mutations	81	Deletion	E11	1266delCTT	1266	423delF	423	D2	Corrales et al. 2012	In frame deletion
Clinical Data	ISTH mutations	78	Duplication	E28	4678_4680dup	4678_4680	D1560dup	1560	A2	Corrales et al. 2012	New