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：

基因: TP53 & 疾病: GLM1, 共467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
12356	TP53	c.743G>A	p.Arg248Gln (p.R248Q)	NM_000546.6 M	SNV	致病突变	46 +	82
	TP53	c.743G>A	p.Arg248Gln (p.R248Q)	NM_001126112.3	SNV	致病突变	46 +	82
	TP53	c.743G>A	p.Arg248Gln (p.R248Q)	NM_001126113.3	SNV	致病突变	46 +	82
	TP53	c.743G>A	p.Arg248Gln (p.R248Q)	NM_001126114.3	SNV	致病突变	46 +	82
	TP53	c.347G>A	p.Arg116Gln (p.R116Q)	NM_001126115.2	SNV	致病突变	46 +	82
	TP53	c.347G>A	p.Arg116Gln (p.R116Q)	NM_001126116.2	SNV	致病突变	46 +	82
	TP53	c.347G>A	p.Arg116Gln (p.R116Q)	NM_001126117.2	SNV	致病突变	46 +	82
	TP53	c.626G>A	p.Arg209Gln (p.R209Q)	NM_001126118.2	SNV	致病突变	46 +	82
	TP53	c.626G>A	p.Arg209Gln (p.R209Q)	NM_001276695.3	SNV	致病突变	46 +	82
	TP53	c.626G>A	p.Arg209Gln (p.R209Q)	NM_001276696.3	SNV	致病突变	46 +	82
	TP53	c.266G>A	p.Arg89Gln (p.R89Q)	NM_001276697.3	SNV	致病突变	46 +	82
	TP53	c.266G>A	p.Arg89Gln (p.R89Q)	NM_001276698.3	SNV	致病突变	46 +	82
	TP53	c.266G>A	p.Arg89Gln (p.R89Q)	NM_001276699.3	SNV	致病突变	46 +	82
	TP53	c.626G>A	p.Arg209Gln (p.R209Q)	NM_001276760.3	SNV	致病突变	46 +	82
	TP53	c.626G>A	p.Arg209Gln (p.R209Q)	NM_001276761.3	SNV	致病突变	46 +	82
12379	TP53	c.1010G>A	p.Arg337His (p.R337H)	NM_000546.6 M	SNV	致病突变	16 +	77
	TP53	c.1010G>A	p.Arg337His (p.R337H)	NM_001126112.3	SNV	致病突变	16 +	77
	TP53	c.*29G>A	--	NM_001126113.3	SNV	致病突变	16 +	77
	TP53	c.*117G>A	--	NM_001126114.3	SNV	致病突变	16 +	77
	TP53	c.614G>A	p.Arg205His (p.R205H)	NM_001126115.2	SNV	致病突变	16 +	77

共467个结果, 每页展示20条

...

信息比对

回到顶部