Molecular Data

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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	271	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011	Compound heterozygous in trans
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	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	243	PSSM	E28	4146G>T	4146	L1382L	1382	A1	Corrales et al. 2010	All mutations in cis
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	225	PSSM	I15	1945+9C>T	1945	-	-	-		New
Clinical Data	ISTH mutations	171	PSSM	I7	874+8G>A	874+8	-	-	-	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	92	PSSM	I5	533-2A>G	533-2	-	-	-	Corrales et al. 2011	In cis with mutation p.A542G
Clinical Data	ISTH mutations	276	PSSM	I31	5455+1G>A	5455+1	-	-	-	Corrales et al. 2012	New. In trans with mutation p.C2235X
Clinical Data	ISTH mutations	197	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011
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	167	PSSM	I5	533-2A>G	-	-	-	-	Corrales et al. 2011	In homozygosis
Clinical Data	ISTH mutations	152	PSSM	I13	1533+15G>A	-	-	-	-	Corrales et al. 2011
Clinical Data	ISTH mutations	112	PSSM	E28	4146G>T	4146	L1382L	1382	A1	Corrales et al. 2009	In homozygosis
Clinical Data	ISTH mutations	52	PSSM	I41	7082-2A>G	-	-	-	-	Corrales et al. 2011	Compound heterozygous in trans
Clinical Data	ISTH mutations	2	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011	In homozygosis
Clinical Data	ISTH mutations	2	PSSM	I29	5170+10C>T	-	-	-	-	Corrales et al. 2011	Also described as a polymorphism in the ISTH database. Mutation in homozygosis.
Clinical Data	ISTH mutations	25	PSSM	I50	8155+3G>C	-	-	-	-	Corrales et al. 2011	No donor splice prediction