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基因: SEPTIN9 & 疾病: Amyotrophic Neuralgia, 共1202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
5863	SEPTIN9	c.316C>T	p.Arg106Trp (p.R106W)	NM_001113491.2 M	SNV	致病突变	2 +	10
	SEPTIN9	c.262C>T	p.Arg88Trp (p.R88W)	NM_006640.5 MP	SNV	致病突变	2 +	10
	SEPTIN9	c.-177C>T	--	NM_001113492.2	SNV	致病突变	2 +	10
	SEPTIN9	c.295C>T	p.Arg99Trp (p.R99W)	NM_001113493.2	SNV	致病突变	2 +	10
	SEPTIN9	c.-177C>T	--	NM_001113494.1	SNV	致病突变	2 +	10
	SEPTIN9	c.259C>T	p.Arg87Trp (p.R87W)	NM_001293695.2	SNV	致病突变	2 +	10
5864	SEPTIN9	c.332C>T	p.Ser111Phe (p.S111F)	NM_001113491.2 M	SNV	致病突变	2 +	3
325539	SEPTIN9	c.201C>T	p.Gly67= (p.G67=)	NM_001113491.2 M	SNV	可能良性	2 +	3
325548	SEPTIN9	c.710G>A	p.Arg237Gln (p.R237Q)	NM_001113491.2 M	SNV	可能良性	2 +	3
325552	SEPTIN9	c.936C>T	p.Ser312= (p.S312=)	NM_001113491.2 M	SNV	良性突变	2 +	3
325561	SEPTIN9	c.1338G>A	p.Ala446= (p.A446=)	NM_001113491.2 M	SNV	可能良性	2 +	3
325566	SEPTIN9	c.1574-10C>T	--	NM_001113491.2 M	SNV	可能良性	2 +	3
325568	SEPTIN9	c.1726A>G	p.Met576Val (p.M576V)	NM_001113491.2 M	SNV	良性突变	2 +	3
5864	SEPTIN9	c.278C>T	p.Ser93Phe (p.S93F)	NM_006640.5 MP	SNV	致病突变	2 +	3
325539	SEPTIN9	c.147C>T	p.Gly49= (p.G49=)	NM_006640.5 MP	SNV	可能良性	2 +	3
325548	SEPTIN9	c.656G>A	p.Arg219Gln (p.R219Q)	NM_006640.5 MP	SNV	可能良性	2 +	3
325552	SEPTIN9	c.882C>T	p.Ser294= (p.S294=)	NM_006640.5 MP	SNV	良性突变	2 +	3
325561	SEPTIN9	c.1284G>A	p.Ala428= (p.A428=)	NM_006640.5 MP	SNV	可能良性	2 +	3
325566	SEPTIN9	c.1520-10C>T	--	NM_006640.5 MP	SNV	可能良性	2 +	3
325568	SEPTIN9	c.1672A>G	p.Met558Val (p.M558V)	NM_006640.5 MP	SNV	良性突变	2 +	3

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