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基因: PSMD12 & 疾病: STISS, 共51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
2585421	PSMD12	c.635A>G	p.Lys212Arg (p.K212R)	NM_002816.5 M	SNV	未确定	1 +	1
427779	PSMD12	c.367C>T	p.Arg123Ter (p.R123X)	NM_002816.5 M	SNV	致病突变	1 +	1
427781	PSMD12	c.601C>T	p.Arg201Ter (p.R201X)	NM_002816.5 M	SNV	致病突变	1 +	1
427782	PSMD12	c.909-2A>G	--	NM_002816.5 M	SNV	致病突变	1 +	1
427780	PSMD12	c.1274T>G	p.Leu425Ter (p.L425X)	NM_002816.5 M	SNV	致病突变	1 +	1
1679244	PSMD12	c.1078G>T	p.Glu360Ter (p.E360X)	NM_002816.5 M	SNV	致病突变	1 +	1
1032849	PSMD12	c.79C>A	p.Arg27Ser (p.R27S)	NM_002816.5 M	SNV	未确定	1 +	1
1274151	PSMD12	c.84A>T	p.Leu28= (p.L28=)	NM_002816.5 M	SNV	良性突变	1 +	1
2435275	PSMD12	c.881A>G	p.Lys294Arg (p.K294R)	NM_002816.5 M	SNV	未确定	1 +	1
1327455	PSMD12	c.796-3T>C	--	NM_002816.5 M	SNV	良性突变	1 +	1
1029483	PSMD12	c.355C>T	p.Pro119Ser (p.P119S)	NM_002816.5 M	SNV	未确定	1 +	1
638584	PSMD12	c.1033G>T	p.Glu345Ter (p.E345X)	NM_002816.5 M	SNV	致病突变	1 +	1
2585421	PSMD12	c.458A>G	p.Lys153Arg (p.K153R)	NM_001316341.2	SNV	未确定	1 +	1
2585421	PSMD12	c.575A>G	p.Lys192Arg (p.K192R)	NM_174871.4	SNV	未确定	1 +	1
427779	PSMD12	c.190C>T	p.Arg64Ter (p.R64X)	NM_001316341.2	SNV	致病突变	1 +	1
427779	PSMD12	c.307C>T	p.Arg103Ter (p.R103X)	NM_174871.4	SNV	致病突变	1 +	1
427781	PSMD12	c.424C>T	p.Arg142Ter (p.R142X)	NM_001316341.2	SNV	致病突变	1 +	1
427781	PSMD12	c.541C>T	p.Arg181Ter (p.R181X)	NM_174871.4	SNV	致病突变	1 +	1
427782	PSMD12	c.849-2A>G	--	NM_174871.4	SNV	致病突变	1 +	1
427782	PSMD12	c.732-2A>G	--	NM_001316341.2	SNV	致病突变	1 +	1

共51个结果, 每页展示20条

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