Same mutation

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Search for:     Any field VWD Classification Nucleotide Change Amino Acid Substitution Functional Studies Country Laboratory Comments   Contains Equals Starts with ... More than ... Less than ... Equal or more than ... Equal or less than ... Empty

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VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments
Type 2A	4789C>G	R1597G	Yes
Type 2B	4022G>A	R1341Q	No		Sixma, Mazurier
Type 2A	4790G>A	R1597Q	No		Meyer
Type 3	7636A>T	N2546Y	No			Patients are homozygous and of consangui More ...
Type 2A	4790G>A	R1597Q	No		Sixma
Type 2A	4789C>T	R1597W	No
Type 2A	4789C>T	R1597W	?
Type 2A	4789C>T	R1597W	?		Sixma
Type 3	7603C>T	R2535X	No			Patients are heterozygous; all 3 alleles More ...
Type 2N	2372C>T	T791M	Yes
Type 3	7603C>T	R2535X	No			1 type III patient is heterozygous in ex More ...
Type 2B	3923G>C	R1308P	Yes		Mazurier
Type 2M	3970G>A	G1324S	Yes
Type 2B	4010C>T	P1337L	Yes
Type 2A	4685T>C	L1562P	No
Type 2B	4022G>A	R1341Q	No
Type 2A	4628C>T	S1543F	Yes		Mazurier
Type 2B	4022G>A	R1341Q	Yes
Type 2A	4789C>T	R1597W	No
Type 2B	3939G>C	W1313C	Yes		Ruggeri