Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: INF2 & Disease: FGS, 42 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
523533	INF2	c.658G>A	p.Glu220Lys (p.E220K)	NM_022489.4 M	SNV	P	6 +	10
	INF2	c.658G>A	p.Glu220Lys (p.E220K)	NM_001031714.4	SNV	P	6 +	10
	INF2	c.658G>A	p.Glu220Lys (p.E220K)	NM_032714.3	SNV	P	6 +	10
261616	INF2	c.3153C>T	p.Asp1051= (p.D1051=)	NM_022489.4 M	SNV	B	3 +	3
261606	INF2	c.2310+8del	--	NM_022489.4 M	Del	B	3 +	3
261624	INF2	c.391+6C>T	--	NM_022489.4 M	SNV	B	3 +	3
261625	INF2	c.42G>A	p.Leu14= (p.L14=)	NM_022489.4 M	SNV	B	3 +	3
261616	INF2	c.3153C>T	p.Asp1051= (p.D1051=)	NM_001031714.4	SNV	B	3 +	3
261606	INF2	c.2310+8del	--	NM_001031714.4	Del	B	3 +	3
261624	INF2	c.391+6C>T	--	NM_001031714.4	SNV	B	3 +	3
261624	INF2	c.391+6C>T	--	NM_032714.3	SNV	B	3 +	3
261625	INF2	c.42G>A	p.Leu14= (p.L14=)	NM_001031714.4	SNV	B	3 +	3
261625	INF2	c.42G>A	p.Leu14= (p.L14=)	NM_032714.3	SNV	B	3 +	3
1613447	INF2	c.3435C>T	p.Ala1145= (p.A1145=)	NM_022489.4 M	SNV	LB	3 +	2
312706	INF2	c.3134G>A	p.Arg1045Gln (p.R1045Q)	NM_022489.4 M	SNV	LB	3 +	2
261614	INF2	c.3069C>T	p.Pro1023= (p.P1023=)	NM_022489.4 M	SNV	LB	3 +	2
1210224	INF2	c.2863G>C	p.Glu955Gln (p.E955Q)	NM_022489.4 M	SNV	VUS	3 +	2
1169518	INF2	c.1929C>T	p.Ile643= (p.I643=)	NM_022489.4 M	SNV	LB	3 +	2
507967	INF2	c.798C>G	p.Val266= (p.V266=)	NM_022489.4 M	SNV	LB	3 +	2
1698961	INF2	c.607G>A	p.Ala203Thr (p.A203T)	NM_022489.4 M	SNV	VUS	2 +	2

42 Results, 20 per Page

Comparison