Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: PC & Disease: PC DEFICIENCY, 2925 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
21222	PC	c.1892G>A	p.Arg631Gln (p.R631Q)	NM_001040716.2 M	SNV	P	1 +	5
	PC	c.1892G>A	p.Arg631Gln (p.R631Q)	NM_000920.4	SNV	P	1 +	5
	PC	c.1892G>A	p.Arg631Gln (p.R631Q)	NM_022172.3	SNV	P	1 +	5
1425937	PC	c.3288+2T>C	--	NM_001040716.2 M	SNV	P	1 +	4
381581	PC	c.796T>G	p.Ser266Ala (p.S266A)	NM_001040716.2 M	SNV	LP	1 +	4
2137163	PC	c.3288+1G>A	--	NM_001040716.2 M	SNV	P	1 +	4
1457904	PC	c.321+1G>T	--	NM_001040716.2 M	SNV	P	1 +	4
1425937	PC	c.3288+2T>C	--	NM_000920.4	SNV	P	1 +	4
1425937	PC	c.3288+2T>C	--	NM_022172.3	SNV	P	1 +	4
381581	PC	c.796T>G	p.Ser266Ala (p.S266A)	NM_000920.4	SNV	LP	1 +	4
381581	PC	c.796T>G	p.Ser266Ala (p.S266A)	NM_022172.3	SNV	LP	1 +	4
2137163	PC	c.3288+1G>A	--	NM_000920.4	SNV	P	1 +	4
2137163	PC	c.3288+1G>A	--	NM_022172.3	SNV	P	1 +	4
1457904	PC	c.321+1G>T	--	NM_000920.4	SNV	P	1 +	4
1457904	PC	c.321+1G>T	--	NM_022172.3	SNV	P	1 +	4
1470604	PC	c.1368+1G>T	--	NM_001040716.2 M	SNV	LP	1 +	3
1075366	PC	c.3288+1G>T	--	NM_001040716.2 M	SNV	P	1 +	3
1347784	PC	c.3147+2T>C	--	NM_001040716.2 M	SNV	LP	1 +	3
944546	PC	c.903+2T>A	--	NM_001040716.2 M	SNV	LP	1 +	3
551488	PC	c.633+2T>C	--	NM_001040716.2 M	SNV	LP	1 +	3

2925 Results, 20 per Page

...

146

147

Comparison