Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: FAN1 & Disease: KMIN, 89 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
437429	FAN1	c.2616del	p.Asp873fs (p.D873fs)	NM_014967.5 M	Del	P	1 +	5
37094	FAN1	c.2120G>A	p.Trp707Ter (p.W707X)	NM_014967.5 M	SNV	P	1 +	5
37100	FAN1	c.2774_2775del	p.Leu925fs (p.L925fs)	NM_014967.5 M	Del	P	1 +	3
260491	FAN1	c.3015T>C	p.His1005= (p.H1005=)	NM_014967.5 M	SNV	B	1 +	2
728233	FAN1	c.2862T>C	p.Cys954= (p.C954=)	NM_014967.5 M	SNV	LB	1 +	2
735330	FAN1	c.2805G>C	p.Leu935= (p.L935=)	NM_014967.5 M	SNV	LB	1 +	2
731463	FAN1	c.2763C>T	p.Arg921= (p.R921=)	NM_014967.5 M	SNV	LB	1 +	2
728513	FAN1	c.2433G>C	p.Leu811= (p.L811=)	NM_014967.5 M	SNV	LB	1 +	2
797168	FAN1	c.2271G>A	p.Pro757= (p.P757=)	NM_014967.5 M	SNV	LB	1 +	2
723570	FAN1	c.2118A>C	p.Arg706= (p.R706=)	NM_014967.5 M	SNV	LB	1 +	2
709277	FAN1	c.2071G>C	p.Glu691Gln (p.E691Q)	NM_014967.5 M	SNV	LB	1 +	2
1533479	FAN1	c.2052+16C>G	--	NM_014967.5 M	SNV	LB	1 +	2
1218283	FAN1	c.1851C>T	p.Ser617= (p.S617=)	NM_014967.5 M	SNV	LB	1 +	2
619975	FAN1	c.1520G>A	p.Arg507His (p.R507H)	NM_014967.5 M	SNV	LB	1 +	2
741730	FAN1	c.1350G>A	p.Leu450= (p.L450=)	NM_014967.5 M	SNV	LB	1 +	2
2168694	FAN1	c.1184T>C	p.Leu395Pro (p.L395P)	NM_014967.5 M	SNV	LB	1 +	2
37095	FAN1	c.1234+2T>A	--	NM_014967.5 M	SNV	P	1 +	2
373299	FAN1	c.1090A>C	p.Asn364His (p.N364H)	NM_014967.5 M	SNV	B	1 +	2
1498865	FAN1	c.877G>T	p.Val293Phe (p.V293F)	NM_014967.5 M	SNV	VUS	1 +	2
260492	FAN1	c.698G>A	p.Gly233Glu (p.G233E)	NM_014967.5 M	SNV	B	1 +	2

89 Results, 20 per Page

Comparison