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基因: TSC2 & 疾病: TSC1, 共33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
50056	TSC2	c.3259dup	p.Glu1087fs (p.E1087fs)	NM_000548.5 M	Dup	致病突变	3 +	3
280596	TSC2	c.4183C>T	p.Gln1395Ter (p.Q1395X)	NM_000548.5 M	SNV	致病突变	2 +	3
50056	TSC2	c.3127dup	p.Glu1043fs (p.E1043fs)	NM_001077183.3	Dup	致病突变	3 +	3
	TSC2	c.3259dup	p.Glu1087fs (p.E1087fs)	NM_001114382.3	Dup	致病突变	3 +	3
	TSC2	c.3019dup	p.Glu1007fs (p.E1007fs)	NM_001318827.2	Dup	致病突变	3 +	3
	TSC2	c.2983dup	p.Glu995fs (p.E995fs)	NM_001318829.2	Dup	致病突变	3 +	3
	TSC2	c.2527dup	p.Glu843fs (p.E843fs)	NM_001318831.2	Dup	致病突变	3 +	3
	TSC2	c.3160dup	p.Glu1054fs (p.E1054fs)	NM_001318832.2	Dup	致病突变	3 +	3
	TSC2	c.3130dup	p.Glu1044fs (p.E1044fs)	NM_001363528.2	Dup	致病突变	3 +	3
	TSC2	c.3127dup	p.Glu1043fs (p.E1043fs)	NM_001370404.1	Dup	致病突变	3 +	3
	TSC2	c.3130dup	p.Glu1044fs (p.E1044fs)	NM_001370405.1	Dup	致病突变	3 +	3
	TSC2	c.3130dup	p.Glu1044fs (p.E1044fs)	NM_021055.3	Dup	致病突变	3 +	3
280596	TSC2	c.3982C>T	p.Gln1328Ter (p.Q1328X)	NM_001077183.3	SNV	致病突变	2 +	3
	TSC2	c.4114C>T	p.Gln1372Ter (p.Q1372X)	NM_001114382.3	SNV	致病突变	2 +	3
	TSC2	c.3874C>T	p.Gln1292Ter (p.Q1292X)	NM_001318827.2	SNV	致病突变	2 +	3
	TSC2	c.3838C>T	p.Gln1280Ter (p.Q1280X)	NM_001318829.2	SNV	致病突变	2 +	3
	TSC2	c.3451C>T	p.Gln1151Ter (p.Q1151X)	NM_001318831.2	SNV	致病突变	2 +	3
	TSC2	c.4015C>T	p.Gln1339Ter (p.Q1339X)	NM_001318832.2	SNV	致病突变	2 +	3
	TSC2	c.3985C>T	p.Gln1329Ter (p.Q1329X)	NM_001363528.2	SNV	致病突变	2 +	3
	TSC2	c.4051C>T	p.Gln1351Ter (p.Q1351X)	NM_001370404.1	SNV	致病突变	2 +	3

共33个结果, 每页展示20条

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