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基因: CDKN1C & 疾病: BWS, 共5015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
35531	CDKN1C	c.787G>A	p.Asp263Asn (p.D263N)	NM_001122630.2 M	SNV	致病突变	2 +	8
	CDKN1C	c.787G>A	p.Asp263Asn (p.D263N)	NM_001122631.2	SNV	致病突变	2 +	8
	CDKN1C	c.820G>A	p.Asp274Asn (p.D274N)	NM_001362474.2	SNV	致病突变	2 +	8
	CDKN1C	c.255+532G>A	--	NM_001362475.2	SNV	致病突变	2 +	8
	CDKN1C	c.820G>A	p.Asp274Asn (p.D274N)	NM_000076.2	SNV	致病突变	2 +	8
854857	CDKN1C	c.92T>C	p.Leu31Pro (p.L31P)	NM_001122630.2 M	SNV	致病突变	1 +	4
132861	CDKN1C	c.655C>T	p.Gln219Ter (p.Q219X)	NM_001122630.2 M	SNV	致病突变	1 +	4
192361	CDKN1C	c.803G>T	p.Arg268Leu (p.R268L)	NM_001122630.2 M	SNV	致病突变	3 +	4
854857	CDKN1C	c.125T>C	p.Leu42Pro (p.L42P)	NM_000076.2	SNV	致病突变	1 +	4
	CDKN1C	c.92T>C	p.Leu31Pro (p.L31P)	NM_001122631.2	SNV	致病突变	1 +	4
	CDKN1C	c.125T>C	p.Leu42Pro (p.L42P)	NM_001362474.2	SNV	致病突变	1 +	4
	CDKN1C	c.92T>C	p.Leu31Pro (p.L31P)	NM_001362475.2	SNV	致病突变	1 +	4
132861	CDKN1C	c.688C>T	p.Gln230Ter (p.Q230X)	NM_000076.2	SNV	致病突变	1 +	4
	CDKN1C	c.655C>T	p.Gln219Ter (p.Q219X)	NM_001122631.2	SNV	致病突变	1 +	4
	CDKN1C	c.688C>T	p.Gln230Ter (p.Q230X)	NM_001362474.2	SNV	致病突变	1 +	4
	CDKN1C	c.255+400C>T	--	NM_001362475.2	SNV	致病突变	1 +	4
192361	CDKN1C	c.836G>T	p.Arg279Leu (p.R279L)	NM_000076.2	SNV	致病突变	3 +	4
	CDKN1C	c.803G>T	p.Arg268Leu (p.R268L)	NM_001122631.2	SNV	致病突变	3 +	4
	CDKN1C	c.836G>T	p.Arg279Leu (p.R279L)	NM_001362474.2	SNV	致病突变	3 +	4
	CDKN1C	c.271G>T	p.Ala91Ser (p.A91S)	NM_001362475.2	SNV	致病突变	3 +	4

共5015个结果, 每页展示20条

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250

251

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