Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: FBXL4 & Disease: MTDPS13, 809 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
209153	FBXL4	c.64C>T	p.Arg22Ter (p.R22X)	NM_001278716.2 M	SNV	P	1 +	8
66093	FBXL4	c.1444C>T	p.Arg482Trp (p.R482W)	NM_001278716.2 M	SNV	P	3 +	8
209153	FBXL4	c.64C>T	p.Arg22Ter (p.R22X)	NM_012160.5	SNV	P	1 +	8
66093	FBXL4	c.1444C>T	p.Arg482Trp (p.R482W)	NM_012160.5	SNV	P	3 +	8
1186102	FBXL4	c.486T>A	p.Tyr162Ter (p.Y162X)	NM_001278716.2 M	SNV	P	1 +	6
265143	FBXL4	c.1641_1642del	p.Cys547_Asp548delinsTer	NM_001278716.2 M	MS	P	1 +	6
1186102	FBXL4	c.486T>A	p.Tyr162Ter (p.Y162X)	NM_012160.5	SNV	P	1 +	6
265143	FBXL4	c.1641_1642del	p.Cys547_Asp548delinsTer	NM_012160.5	MS	P	1 +	6
66091	FBXL4	c.1303C>T	p.Arg435Ter (p.R435X)	NM_001278716.2 M	SNV	P	2 +	5
437486	FBXL4	c.1790A>C	p.Gln597Pro (p.Q597P)	NM_001278716.2 M	SNV	P	1 +	5
280414	FBXL4	c.618_621dup	p.Glu208fs (p.E208fs)	NM_001278716.2 M	Dup	P	1 +	5
66091	FBXL4	c.1303C>T	p.Arg435Ter (p.R435X)	NM_012160.5	SNV	P	2 +	5
437486	FBXL4	c.1790A>C	p.Gln597Pro (p.Q597P)	NM_012160.5	SNV	P	1 +	5
280414	FBXL4	c.618_621dup	p.Glu208fs (p.E208fs)	NM_012160.5	Dup	P	1 +	5
437490	FBXL4	c.292C>T	p.Arg98Ter (p.R98X)	NM_001278716.2 M	SNV	P	1 +	4
437644	FBXL4	c.859-1G>T	--	NM_001278716.2 M	SNV	P	1 +	4
437490	FBXL4	c.292C>T	p.Arg98Ter (p.R98X)	NM_012160.5	SNV	P	1 +	4
437644	FBXL4	c.859-1G>T	--	NM_012160.5	SNV	P	1 +	4
694444	FBXL4	c.627_633del	p.Asn210fs (p.N210fs)	NM_001278716.2 M	Del	P	1 +	3
66092	FBXL4	c.1703G>C	p.Gly568Ala (p.G568A)	NM_001278716.2 M	SNV	P	1 +	3

809 Results, 20 per Page

...

Comparison