Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: ALG2 & Disease: CMS14, 259 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
381447	ALG2	c.349-17A>G	--	NM_033087.4 M	SNV	LB	2 +	2
262208	ALG2	c.129C>G	p.Arg43= (p.R43=)	NM_033087.4 M	SNV	B	2 +	2
1017971	ALG2	c.389G>A	p.Arg130Gln (p.R130Q)	NM_033087.4 M	SNV	VUS	2 +	2
235651	ALG2	c.30C>G	p.Asp10Glu (p.D10E)	NM_033087.4 M	SNV	LB	2 +	2
2699	ALG2	c.1040del	p.Gly347fs (p.G347fs)	NM_033087.4 M	Del	P	3 +	2
364206	ALG2	c.934C>T	p.Leu312Phe (p.L312F)	NM_033087.4 M	SNV	VUS	2 +	2
183018	ALG2	c.214_224delinsAGTCCCCG	p.Gly72_Leu75delinsSerProArg	NM_033087.4 M	Indel	P	1 +	2
657644	ALG2	c.232G>C	p.Gly78Arg (p.G78R)	NM_033087.4 M	SNV	VUS	2 +	2
390397	ALG2	c.475A>G	p.Ile159Val (p.I159V)	NM_033087.4 M	SNV	LB	2 +	2
166675	ALG2	c.17G>C	p.Gly6Ala (p.G6A)	NM_033087.4 M	SNV	LB	2 +	2
1041171	ALG2	c.945C>T	p.Cys315= (p.C315=)	NM_033087.4 M	SNV	VUS	2 +	2
265036	ALG2	c.1132C>T	p.Arg378Cys (p.R378C)	NM_033087.4 M	SNV	VUS	2 +	2
575832	ALG2	c.449T>C	p.Phe150Ser (p.F150S)	NM_033087.4 M	SNV	VUS	2 +	2
638332	ALG2	c.319G>A	p.Glu107Lys (p.E107K)	NM_033087.4 M	SNV	VUS	2 +	2
1319358	ALG2	c.19C>T	p.Arg7Trp (p.R7W)	NM_033087.4 M	SNV	VUS	2 +	2
96237	ALG2	c.31T>C	p.Ser11Pro (p.S11P)	NM_033087.4 M	SNV	B	2 +	2
96238	ALG2	c.760T>C	p.Leu254= (p.L254=)	NM_033087.4 M	SNV	LB	2 +	2
96236	ALG2	c.1100T>C	p.Val367Ala (p.V367A)	NM_033087.4 M	SNV	B	2 +	2
654848	ALG2	c.446C>A	p.Ser149Tyr (p.S149Y)	NM_033087.4 M	SNV	VUS	2 +	1
464897	ALG2	c.44C>A	p.Pro15Gln (p.P15Q)	NM_033087.4 M	SNV	VUS	2 +	1

259 Results, 20 per Page

...

Comparison