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检索条件：

基因: MITF & 疾病: WS2A, 共3924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
29792	MITF	c.1273G>A	p.Glu425Lys (p.E425K)	NM_001354604.2 M	SNV	致病突变	5 +	39
	MITF	c.952G>A	p.Glu318Lys (p.E318K)	NM_000248.4 MP	SNV	致病突变	5 +	39
	MITF	c.1099G>A	p.Glu367Lys (p.E367K)	NM_001184967.2	SNV	致病突变	5 +	39
	MITF	c.1270G>A	p.Glu424Lys (p.E424K)	NM_001354605.2	SNV	致病突变	5 +	39
	MITF	c.1252G>A	p.Glu418Lys (p.E418K)	NM_001354606.2	SNV	致病突变	5 +	39
	MITF	c.1204G>A	p.Glu402Lys (p.E402K)	NM_001354607.2	SNV	致病突变	5 +	39
	MITF	c.1099G>A	p.Glu367Lys (p.E367K)	NM_001354608.2	SNV	致病突变	5 +	39
	MITF	c.1252G>A	p.Glu418Lys (p.E418K)	NM_006722.3	SNV	致病突变	5 +	39
	MITF	c.934G>A	p.Glu312Lys (p.E312K)	NM_198158.3	SNV	致病突变	5 +	39
	MITF	c.1255G>A	p.Glu419Lys (p.E419K)	NM_198159.3	SNV	致病突变	5 +	39
	MITF	c.1207G>A	p.Glu403Lys (p.E403K)	NM_198177.3	SNV	致病突变	5 +	39
	MITF	c.766G>A	p.Glu256Lys (p.E256K)	NM_198178.3	SNV	致病突变	5 +	39
14272	MITF	c.964AGA[2]	p.Arg324Del (p.R324del)	NM_001354604.2 M	MS	致病突变	5 +	15
	MITF	c.970_972del	--	NM_001354604.2 M	MS	致病突变	5 +	15
	MITF	c.643AGA[2]	p.Arg217Del (p.R217del)	NM_000248.4 MP	MS	致病突变	5 +	15
	MITF	c.790AGA[2]	p.Arg266Del (p.R266del)	NM_001184967.2	MS	致病突变	5 +	15
	MITF	c.961AGA[2]	p.Arg323Del (p.R323del)	NM_001354605.2	MS	致病突变	5 +	15
	MITF	c.943AGA[2]	p.Arg317Del (p.R317del)	NM_001354606.2	MS	致病突变	5 +	15
	MITF	c.895AGA[2]	p.Arg301Del (p.R301del)	NM_001354607.2	MS	致病突变	5 +	15
	MITF	c.790AGA[2]	p.Arg266Del (p.R266del)	NM_001354608.2	MS	致病突变	5 +	15

共3924个结果, 每页展示20条

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196

197

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