Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: FGB & Disease: DYSFIBRIN, 67 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
517313	FGB	c.794C>T	p.Pro265Leu (p.P265L)	NM_005141.5 M	SNV	P	4 +	8
517313	FGB	c.617C>T	p.Pro206Leu (p.P206L)	NM_001184741.1	SNV	P	4 +	8
1698816	FGB	c.284G>A	p.Cys95Tyr (p.C95Y)	NM_005141.5 M	SNV	VUS	2 +	0
981156	FGB	c.490+1G>C	--	NM_005141.5 M	SNV	LP	2 +	0
902861	FGB	c.749A>G	p.Glu250Gly (p.E250G)	NM_005141.5 M	SNV	VUS	3 +	0
695936	FGB	c.682A>G	p.Thr228Ala (p.T228A)	NM_005141.5 M	SNV	LB	3 +	0
800648	FGB	c.679T>C	p.Cys227Arg (p.C227R)	NM_005141.5 M	SNV	P	2 +	0
1675187	FGB	c.811G>T	p.Asp271Tyr (p.D271Y)	NM_005141.5 M	SNV	VUS	2 +	0
2572127	FGB	c.1330G>A	p.Gly444Ser (p.G444S)	NM_005141.5 M	SNV	VUS	2 +	0
2572164	FGB	c.419C>A	p.Thr140Asn (p.T140N)	NM_005141.5 M	SNV	VUS	2 +	0
1698816	FGB	c.284G>A	p.Cys95Tyr (p.C95Y)	NM_001382759.1	SNV	VUS	2 +	0
	FGB	c.284G>A	p.Cys95Tyr (p.C95Y)	NM_001382760.1	SNV	VUS	2 +	0
	FGB	c.284G>A	p.Cys95Tyr (p.C95Y)	NM_001382761.1	SNV	VUS	2 +	0
	FGB	c.284G>A	p.Cys95Tyr (p.C95Y)	NM_001382762.1	SNV	VUS	2 +	0
	FGB	c.284G>A	p.Cys95Tyr (p.C95Y)	NM_001382763.1	SNV	VUS	2 +	0
	FGB	c.284G>A	p.Cys95Tyr (p.C95Y)	NM_001382764.1	SNV	VUS	2 +	0
	FGB	c.284G>A	p.Cys95Tyr (p.C95Y)	NM_001382765.1	SNV	VUS	2 +	0
	FGB	c.165+119G>A	--	NM_001184741.1	SNV	VUS	2 +	0
981156	FGB	c.313+1G>C	--	NM_001184741.1	SNV	LP	2 +	0
981156	FGB	c.490+1G>C	--	NM_001382761.1	SNV	LP	2 +	0

67 Results, 20 per Page

Comparison