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基因: GNAS & 疾病: PPNAD1, 共63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
15934	GNAS	c.602G>A	p.Arg201His (p.R201H)	NM_000516.7 M	SNV	致病突变	14 +	26
	GNAS	c.*508G>A	--	NM_016592.5 MP	SNV	致病突变	14 +	26
	GNAS	c.2531G>A	p.Arg844His (p.R844H)	NM_080425.4 MP	SNV	致病突变	14 +	26
	GNAS	c.605G>A	p.Arg202His (p.R202H)	NM_001077488.5	SNV	致病突变	14 +	26
	GNAS	c.557G>A	p.Arg186His (p.R186H)	NM_001077489.4	SNV	致病突变	14 +	26
	GNAS	c.*463G>A	--	NM_001077490.3	SNV	致病突变	14 +	26
	GNAS	c.425G>A	p.Arg142His (p.R142H)	NM_001309840.2	SNV	致病突变	14 +	26
	GNAS	c.425G>A	p.Arg142His (p.R142H)	NM_001309861.2	SNV	致病突变	14 +	26
	GNAS	c.560G>A	p.Arg187His (p.R187H)	NM_080426.4	SNV	致病突变	14 +	26
15933	GNAS	c.601C>T	p.Arg201Cys (p.R201C)	NM_000516.7 M	SNV	致病突变	13 +	18
	GNAS	c.*507C>T	--	NM_016592.5 MP	SNV	致病突变	13 +	18
	GNAS	c.2530C>T	p.Arg844Cys (p.R844C)	NM_080425.4 MP	SNV	致病突变	13 +	18
	GNAS	c.604C>T	p.Arg202Cys (p.R202C)	NM_001077488.5	SNV	致病突变	13 +	18
	GNAS	c.556C>T	p.Arg186Cys (p.R186C)	NM_001077489.4	SNV	致病突变	13 +	18
	GNAS	c.*462C>T	--	NM_001077490.3	SNV	致病突变	13 +	18
	GNAS	c.424C>T	p.Arg142Cys (p.R142C)	NM_001309840.2	SNV	致病突变	13 +	18
	GNAS	c.424C>T	p.Arg142Cys (p.R142C)	NM_001309861.2	SNV	致病突变	13 +	18
	GNAS	c.559C>T	p.Arg187Cys (p.R187C)	NM_080426.4	SNV	致病突变	13 +	18
374113	GNAS	c.85C>T	p.Gln29Ter (p.Q29X)	NM_000516.7 M	SNV	致病突变	11 +	7
374113	GNAS	c.*43-3801C>T	--	NM_016592.5 MP	SNV	致病突变	11 +	7

共63个结果, 每页展示20条

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