Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: G6PC3 & Disease: SCN4, 1390 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
30874	G6PC3	c.778G>C	p.Gly260Arg (p.G260R)	NM_138387.4 M	SNV	P	2 +	10
	G6PC3	c.*71G>C	--	NM_001319945.2	SNV	P	2 +	10
	G6PC3	c.433G>C	p.Gly145Arg (p.G145R)	NM_001384165.1	SNV	P	2 +	10
	G6PC3	c.433G>C	p.Gly145Arg (p.G145R)	NM_001384166.1	SNV	P	2 +	10
	G6PC3	c.433G>C	p.Gly145Arg (p.G145R)	NM_001384167.1	SNV	P	2 +	10
	G6PC3	c.433G>C	p.Gly145Arg (p.G145R)	NM_001384168.1	SNV	P	2 +	10
189781	G6PC3	c.130C>T	p.Pro44Ser (p.P44S)	NM_138387.4 M	SNV	P	2 +	9
	G6PC3	c.130C>T	p.Pro44Ser (p.P44S)	NM_001319945.2	SNV	P	2 +	9
	G6PC3	c.-275C>T	--	NM_001384165.1	SNV	P	2 +	9
	G6PC3	c.-410C>T	--	NM_001384166.1	SNV	P	2 +	9
	G6PC3	c.-400C>T	--	NM_001384167.1	SNV	P	2 +	9
	G6PC3	c.-312+381C>T	--	NM_001384168.1	SNV	P	2 +	9
1066709	G6PC3	c.677+1G>A	--	NM_138387.4 M	SNV	LP	2 +	7
189782	G6PC3	c.210del	p.Phe71fs (p.F71fs)	NM_138387.4 M	Del	P	2 +	7
1066709	G6PC3	c.332+1G>A	--	NM_001384168.1	SNV	LP	2 +	7
	G6PC3	c.332+1G>A	--	NM_001384165.1	SNV	LP	2 +	7
	G6PC3	c.332+1G>A	--	NM_001384166.1	SNV	LP	2 +	7
	G6PC3	c.332+1G>A	--	NM_001384167.1	SNV	LP	2 +	7
	G6PC3	c.558+1G>A	--	NM_001319945.2	SNV	LP	2 +	7
189782	G6PC3	c.210del	p.Phe71fs (p.F71fs)	NM_001319945.2	Del	P	2 +	7

1390 Results, 20 per Page

...

Comparison