Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: SGCA & Disease: Autosomal Recessive Limb-Girdle Muscular Dystrophy, 22 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
167677	SGCA	c.739G>A	p.Val247Met (p.V247M)	NM_000023.4 M	SNV	P	4 +	21
167677	SGCA	c.584+674G>A	--	NM_001135697.3	SNV	P	4 +	21
9435	SGCA	c.293G>A	p.Arg98His (p.R98H)	NM_000023.4 M	SNV	P	3 +	12
9439	SGCA	c.850C>T	p.Arg284Cys (p.R284C)	NM_000023.4 M	SNV	P	4 +	12
9435	SGCA	c.293G>A	p.Arg98His (p.R98H)	NM_001135697.3	SNV	P	3 +	12
9439	SGCA	c.585-395C>T	--	NM_001135697.3	SNV	P	4 +	12
554420	SGCA	c.409G>C	p.Glu137Gln (p.E137Q)	NM_000023.4 M	SNV	P	3 +	10
554420	SGCA	c.409G>C	p.Glu137Gln (p.E137Q)	NM_001135697.3	SNV	P	3 +	10
188811	SGCA	c.220C>T	p.Arg74Trp (p.R74W)	NM_000023.4 M	SNV	P	3 +	8
188811	SGCA	c.220C>T	p.Arg74Trp (p.R74W)	NM_001135697.3	SNV	P	3 +	8
1705242	SGCA	c.1A>G	p.Met1Val (p.M1V)	NM_000023.4 M	SNV	LP	1 +	7
1705242	SGCA	c.1A>G	p.Met1Val (p.M1V)	NM_001135697.3	SNV	LP	1 +	7
281027	SGCA	c.518T>C	p.Leu173Pro (p.L173P)	NM_000023.4 M	SNV	P	3 +	5
289794	SGCA	c.614C>A	p.Pro205His (p.P205H)	NM_000023.4 M	SNV	P	3 +	5
281027	SGCA	c.518T>C	p.Leu173Pro (p.L173P)	NM_001135697.3	SNV	P	3 +	5
289794	SGCA	c.584+549C>A	--	NM_001135697.3	SNV	P	3 +	5
2429327	SGCA	c.269A>G	p.Tyr90Cys (p.Y90C)	NM_000023.4 M	SNV	LP	1 +	3
2429327	SGCA	c.269A>G	p.Tyr90Cys (p.Y90C)	NM_001135697.3	SNV	LP	1 +	3
280105	SGCA	c.530del	p.Ser177fs (p.S177fs)	NM_000023.4 M	Del	P	3 +	1
280105	SGCA	c.530del	p.Ser177fs (p.S177fs)	NM_001135697.3	Del	P	3 +	1

22 Results, 20 per Page

Comparison