Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: CA5A & Disease: CA5AD, 246 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
388645	CA5A	c.721G>A	p.Glu241Lys (p.E241K)	NM_001739.2 M	SNV	P	2 +	4
127088	CA5A	c.555G>A	p.Lys185= (p.K185=)	NM_001739.2 M	SNV	P	2 +	4
388645	CA5A	c.721G>A	p.Glu241Lys (p.E241K)	NM_001367225.1	SNV	P	2 +	4
127088	CA5A	c.555G>A	p.Lys185= (p.K185=)	NM_001367225.1	SNV	P	2 +	4
127087	CA5A	c.697T>C	p.Ser233Pro (p.S233P)	NM_001739.2 M	SNV	P	2 +	3
127089	CA5A	c.619-3421_774+502del	--	NM_001739.2 M	Del	P	2 +	3
127087	CA5A	c.697T>C	p.Ser233Pro (p.S233P)	NM_001367225.1	SNV	P	2 +	3
127089	CA5A	c.619-3421_774+502del	--	NM_001367225.1	Del	P	2 +	3
798226	CA5A	c.172G>A	p.Val58Met (p.V58M)	NM_001739.2 M	SNV	B	2 +	2
379947	CA5A	c.143-9T>A	--	NM_001739.2 M	SNV	B	2 +	2
962096	CA5A	c.767_774+13del	--	NM_001739.2 M	Del	LP	2 +	2
379954	CA5A	c.453C>T	p.Pro151= (p.P151=)	NM_001739.2 M	SNV	B	2 +	2
379955	CA5A	c.807A>T	p.Ala269= (p.A269=)	NM_001739.2 M	SNV	B	2 +	2
793186	CA5A	c.543C>T	p.Gly181= (p.G181=)	NM_001739.2 M	SNV	B	2 +	2
1494683	CA5A	c.544G>A	p.Val182Met (p.V182M)	NM_001739.2 M	SNV	VUS	2 +	2
1956686	CA5A	c.683G>A	p.Trp228Ter (p.W228X)	NM_001739.2 M	SNV	P	2 +	2
2067315	CA5A	c.77G>A	p.Arg26His (p.R26H)	NM_001739.2 M	SNV	VUS	2 +	2
1940348	CA5A	c.774G>C	p.Gln258His (p.Q258H)	NM_001739.2 M	SNV	VUS	2 +	2
1652614	CA5A	c.788G>A	p.Arg263His (p.R263H)	NM_001739.2 M	SNV	B	2 +	2
570252	CA5A	c.94C>T	p.Arg32Ter (p.R32X)	NM_001739.2 M	SNV	P	2 +	2

246 Results, 20 per Page

...

Comparison