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检索条件：

基因: PUS7 & 疾病: IDDABS, 共65条

ClinVar	基因	碱基改变	氨基酸改变	转录本ID	突变类型	临床意义	疾病数量	文献数量
804242	PUS7	c.1160C>T	p.Thr387Met (p.T387M)	NM_019042.5 M	SNV	致病突变	1 +	1
804243	PUS7	c.398+1G>T	--	NM_019042.5 M	SNV	致病突变	1 +	1
619230	PUS7	c.89_90del	p.Thr30fs (p.T30fs)	NM_019042.5 M	Del	致病突变	1 +	1
619231	PUS7	c.1348C>T	p.Arg450Ter (p.R450X)	NM_019042.5 M	SNV	致病突变	1 +	1
619233	PUS7	c.1507G>T	p.Asp503Tyr (p.D503Y)	NM_019042.5 M	SNV	致病突变	1 +	1
619234	PUS7	c.329_332del	p.Thr110fs (p.T110fs)	NM_019042.5 M	Del	致病突变	1 +	1
804242	PUS7	c.1178C>T	p.Thr393Met (p.T393M)	NM_001318163.1	SNV	致病突变	1 +	1
804242	PUS7	c.1160C>T	p.Thr387Met (p.T387M)	NM_001318164.2	SNV	致病突变	1 +	1
804243	PUS7	c.398+1G>T	--	NM_001318163.1	SNV	致病突变	1 +	1
804243	PUS7	c.398+1G>T	--	NM_001318164.2	SNV	致病突变	1 +	1
619230	PUS7	c.89_90del	p.Thr30fs (p.T30fs)	NM_001318164.2	Del	致病突变	1 +	1
619230	PUS7	c.89_90del	p.Thr30fs (p.T30fs)	NM_001318163.1	Del	致病突变	1 +	1
619231	PUS7	c.1366C>T	p.Arg456Ter (p.R456X)	NM_001318163.1	SNV	致病突变	1 +	1
619231	PUS7	c.1348C>T	p.Arg450Ter (p.R450X)	NM_001318164.2	SNV	致病突变	1 +	1
619233	PUS7	c.1525G>T	p.Asp509Tyr (p.D509Y)	NM_001318163.1	SNV	致病突变	1 +	1
619233	PUS7	c.1507G>T	p.Asp503Tyr (p.D503Y)	NM_001318164.2	SNV	致病突变	1 +	1
619234	PUS7	c.329_332del	p.Thr110fs (p.T110fs)	NM_001318164.2	Del	致病突变	1 +	1
619234	PUS7	c.329_332del	p.Thr110fs (p.T110fs)	NM_001318163.1	Del	致病突变	1 +	1
1028136	PUS7	c.1121A>T	p.Tyr374Phe (p.Y374F)	NM_019042.5 M	SNV	未确定	1 +	0
1327922	PUS7	c.842+44A>G	--	NM_019042.5 M	SNV	良性突变	1 +	0

共65个结果, 每页展示20条

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