加入收藏

突变查看

便捷的突变搜索和展示工具

检索

检索条件：

Gene: AP5Z1 & Disease: SPG48, 1480 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
646210	AP5Z1	c.931+1G>A	--	NM_014855.3 M	SNV	LP	1 +	3
1947244	AP5Z1	c.970-1G>A	--	NM_014855.3 M	SNV	LP	1 +	3
974861	AP5Z1	c.931C>T	p.Arg311Ter (p.R311X)	NM_014855.3 M	SNV	P	1 +	3
1493192	AP5Z1	c.1132+1_1132+3del	--	NM_014855.3 M	Del	LP	1 +	3
375313	AP5Z1	c.1322G>A	p.Trp441Ter (p.W441X)	NM_014855.3 M	SNV	P	2 +	3
375314	AP5Z1	c.412C>T	p.Arg138Ter (p.R138X)	NM_014855.3 M	SNV	P	1 +	3
412232	AP5Z1	c.2287G>A	p.Val763Met (p.V763M)	NM_014855.3 M	SNV	VUS	1 +	3
646210	AP5Z1	c.463+1G>A	--	NM_001364858.1	SNV	LP	1 +	3
1947244	AP5Z1	c.502-1G>A	--	NM_001364858.1	SNV	LP	1 +	3
974861	AP5Z1	c.463C>T	p.Arg155Ter (p.R155X)	NM_001364858.1	SNV	P	1 +	3
1493192	AP5Z1	c.664+1_664+3del	--	NM_001364858.1	Del	LP	1 +	3
375313	AP5Z1	c.854G>A	p.Trp285Ter (p.W285X)	NM_001364858.1	SNV	P	2 +	3
375314	AP5Z1	c.-57C>T	--	NM_001364858.1	SNV	P	1 +	3
412232	AP5Z1	c.1819G>A	p.Val607Met (p.V607M)	NM_001364858.1	SNV	VUS	1 +	3
2130739	AP5Z1	c.1707+5G>A	--	NM_014855.3 M	SNV	VUS	1 +	2
578441	AP5Z1	c.706C>T	p.Gln236Ter (p.Q236X)	NM_014855.3 M	SNV	P	1 +	2
2151423	AP5Z1	c.67A>T	p.Lys23Ter (p.K23X)	NM_014855.3 M	SNV	P	1 +	2
810060	AP5Z1	c.928C>T	p.Arg310Ter (p.R310X)	NM_014855.3 M	SNV	P	1 +	2
2041213	AP5Z1	c.2079_2091del	p.Cys693fs (p.C693fs)	NM_014855.3 M	Del	P	1 +	2
566755	AP5Z1	c.868del	p.Arg290fs (p.R290fs)	NM_014855.3 M	Del	P	2 +	2

共1480个结果, 每页展示20条

...

Comparison