Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: COL4A5 & Disease: Nephrotic Syndrome, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
24591	COL4A5	c.3088G>A	p.Gly1030Ser (p.G1030S)	NM_033380.3 M	SNV	P	4 +	11
24591	COL4A5	c.3088G>A	p.Gly1030Ser (p.G1030S)	NM_000495.5	SNV	P	4 +	11
934057	COL4A5	c.3722G>A	p.Gly1241Asp (p.G1241D)	NM_033380.3 M	SNV	P	1 +	8
934057	COL4A5	c.3722G>A	p.Gly1241Asp (p.G1241D)	NM_000495.5	SNV	P	1 +	8
988111	COL4A5	c.2344_2345insG	p.Pro782fs (p.P782fs)	NM_033380.3 M	Ins	LP	1 +	0
988113	COL4A5	c.4529-11A>G	--	NM_033380.3 M	SNV	VUS	1 +	0
988182	COL4A5	c.3262C>T	p.Pro1088Ser (p.P1088S)	NM_033380.3 M	SNV	VUS	1 +	0
988185	COL4A5	c.2387G>A	p.Gly796Glu (p.G796E)	NM_033380.3 M	SNV	P	1 +	0
988111	COL4A5	c.2344_2345insG	p.Pro782fs (p.P782fs)	NM_000495.5	Ins	LP	1 +	0
988113	COL4A5	c.4511-11A>G	--	NM_000495.5	SNV	VUS	1 +	0
988182	COL4A5	c.3262C>T	p.Pro1088Ser (p.P1088S)	NM_000495.5	SNV	VUS	1 +	0
988185	COL4A5	c.2387G>A	p.Gly796Glu (p.G796E)	NM_000495.5	SNV	P	1 +	0

12 Results, 20 per Page

1

Comparison

Back to top