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: FAS & Disease: ALPS, 1252 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16505	FAS	c.749G>C	p.Arg250Pro (p.R250P)	NM_000043.6 M	SNV	P	1 +	5
16514	FAS	c.651+2T>C	--	NM_000043.6 M	SNV	P	1 +	5
2034063	FAS	c.30+2T>C	--	NM_000043.6 M	SNV	LP	1 +	5
2136916	FAS	c.779A>G	p.Asp260Gly (p.D260G)	NM_000043.6 M	SNV	LP	1 +	5
1070182	FAS	c.749G>A	p.Arg250Gln (p.R250Q)	NM_000043.6 M	SNV	P	1 +	5
16505	FAS	c.*72G>C	--	NM_001320619.2	SNV	P	1 +	5
	FAS	c.686G>C	p.Arg229Pro (p.R229P)	NM_152871.4	SNV	P	1 +	5
	FAS	c.*61G>C	--	NM_152872.4	SNV	P	1 +	5
16514	FAS	c.651+2T>C	--	NM_152872.4	SNV	P	1 +	5
	FAS	c.569-1260T>C	--	NM_001320619.2	SNV	P	1 +	5
	FAS	c.588+2T>C	--	NM_152871.4	SNV	P	1 +	5
	FAS	c.696+2T>C	--	NM_001410956.1	SNV	P	1 +	5
2034063	FAS	c.30+2T>C	--	NM_152872.4	SNV	LP	1 +	5
	FAS	c.30+2T>C	--	NM_001320619.2	SNV	LP	1 +	5
	FAS	c.30+2T>C	--	NM_152871.4	SNV	LP	1 +	5
2136916	FAS	c.*102A>G	--	NM_001320619.2	SNV	LP	1 +	5
	FAS	c.824A>G	p.Asp275Gly (p.D275G)	NM_001410956.1	SNV	LP	1 +	5
	FAS	c.716A>G	p.Asp239Gly (p.D239G)	NM_152871.4	SNV	LP	1 +	5
	FAS	c.*91A>G	--	NM_152872.4	SNV	LP	1 +	5
1070182	FAS	c.*72G>A	--	NM_001320619.2	SNV	P	1 +	5

共1252个结果, 每页展示20条

...

Comparison