Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: F5 & Disease: Factor V Leiden Thrombophilia, 195 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
642	F5	c.1601G>A	p.Arg534Gln (p.R534Q)	NM_000130.5 M	SNV	P	6 +	54
643	F5	c.1000A>G	p.Arg334Gly (p.R334G)	NM_000130.5 M	SNV	P	3 +	3
627209	F5	c.1128G>T	p.Arg376Ser (p.R376S)	NM_000130.5 M	SNV	VUS	5 +	2
644	F5	c.1001G>C	p.Arg334Thr (p.R334T)	NM_000130.5 M	SNV	P	2 +	2
655	F5	c.1160T>C	p.Ile387Thr (p.I387T)	NM_000130.5 M	SNV	P	2 +	2
627349	F5	c.6179G>A	p.Gly2060Asp (p.G2060D)	NM_000130.5 M	SNV	LP	4 +	2
787578	F5	c.4589A>C	p.Glu1530Ala (p.E1530A)	NM_000130.5 M	SNV	LB	5 +	2
255194	F5	c.2235T>C	p.Asn745= (p.N745=)	NM_000130.5 M	SNV	LB	5 +	2
255202	F5	c.2773A>G	p.Lys925Glu (p.K925E)	NM_000130.5 M	SNV	LB	5 +	2
37345	F5	c.3980A>G	p.His1327Arg (p.H1327R)	NM_000130.5 M	SNV	LB	3 +	1
627264	F5	c.1830_1831dup	p.His611fs (p.H611fs)	NM_000130.5 M	Dup	P	3 +	1
645	F5	c.439G>T	p.Glu147Ter (p.E147X)	NM_000130.5 M	SNV	P	2 +	1
293590	F5	c.5054C>G	p.Thr1685Ser (p.T1685S)	NM_000130.5 M	SNV	LB	6 +	1
713561	F5	c.5245C>G	p.Leu1749Val (p.L1749V)	NM_000130.5 M	SNV	LB	6 +	1
632086	F5	c.5646G>A	p.Trp1882Ter (p.W1882X)	NM_000130.5 M	SNV	B	4 +	1
579171	F5	c.5265A>G	p.Ile1755Met (p.I1755M)	NM_000130.5 M	SNV	LB	7 +	1
293635	F5	c.885C>T	p.Thr295= (p.T295=)	NM_000130.5 M	SNV	LB	5 +	1
874517	F5	c.1546G>T	p.Ala516Ser (p.A516S)	NM_000130.5 M	SNV	VUS	5 +	0
2431036	F5	c.413dup	p.Met138fs (p.M138fs)	NM_000130.5 M	Dup	LP	2 +	0
874570	F5	c.1297-13T>C	--	NM_000130.5 M	SNV	LB	5 +	0

195 Results, 20 per Page

...

Comparison