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基因: CARD14 & 疾病: PRP, 共2577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
31606	CARD14	c.349G>A	p.Gly117Ser (p.G117S)	NM_001366385.1 M	SNV	致病突变	3 +	7
	CARD14	c.349G>A	p.Gly117Ser (p.G117S)	NM_024110.4	SNV	致病突变	3 +	7
	CARD14	c.349G>A	p.Gly117Ser (p.G117S)	NM_001257970.1	SNV	致病突变	3 +	7
1192693	CARD14	c.675+26G>A	--	NM_001366385.1 M	SNV	良性突变	3 +	6
402482	CARD14	c.2219+14T>A	--	NM_001366385.1 M	SNV	良性突变	3 +	6
402483	CARD14	c.633G>A	p.Glu211= (p.E211=)	NM_001366385.1 M	SNV	良性突变	3 +	6
1170164	CARD14	c.2808-19C>A	--	NM_001366385.1 M	SNV	良性突变	3 +	6
1192693	CARD14	c.675+26G>A	--	NM_024110.4	SNV	良性突变	3 +	6
1192693	CARD14	c.675+26G>A	--	NM_001257970.1	SNV	良性突变	3 +	6
402482	CARD14	c.*10T>A	--	NM_001257970.1	SNV	良性突变	3 +	6
402482	CARD14	c.2219+14T>A	--	NM_024110.4	SNV	良性突变	3 +	6
402483	CARD14	c.633G>A	p.Glu211= (p.E211=)	NM_024110.4	SNV	良性突变	3 +	6
402483	CARD14	c.633G>A	p.Glu211= (p.E211=)	NM_001257970.1	SNV	良性突变	3 +	6
1170164	CARD14	c.2808-19C>A	--	NM_024110.4	SNV	良性突变	3 +	6
1167399	CARD14	c.1753G>A	p.Val585Ile (p.V585I)	NM_001366385.1 M	SNV	良性突变	3 +	5
527880	CARD14	c.2775C>T	p.Val925= (p.V925=)	NM_001366385.1 M	SNV	可能良性	4 +	5
1167399	CARD14	c.1753G>A	p.Val585Ile (p.V585I)	NM_001257970.1	SNV	良性突变	3 +	5
	CARD14	c.1753G>A	p.Val585Ile (p.V585I)	NM_024110.4	SNV	良性突变	3 +	5
	CARD14	c.1042G>A	p.Val348Ile (p.V348I)	NM_052819.3	SNV	良性突变	3 +	5
527880	CARD14	c.2775C>T	p.Val925= (p.V925=)	NM_024110.4	SNV	可能良性	4 +	5

共2577个结果, 每页展示20条

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