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检索条件：

基因: SPAST & 疾病: HSP, 共370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
240950	SPAST	c.1496G>A	p.Arg499His (p.R499H)	NM_014946.4 M	SNV	致病突变	2 +	24
	SPAST	c.1493G>A	p.Arg498His (p.R498H)	NM_001363823.2	SNV	致病突变	2 +	24
	SPAST	c.1397G>A	p.Arg466His (p.R466H)	NM_001363875.2	SNV	致病突变	2 +	24
	SPAST	c.1400G>A	p.Arg467His (p.R467H)	NM_001377959.1	SNV	致病突变	2 +	24
	SPAST	c.1400G>A	p.Arg467His (p.R467H)	NM_199436.2	SNV	致病突变	2 +	24
240948	SPAST	c.1378C>T	p.Arg460Cys (p.R460C)	NM_014946.4 M	SNV	致病突变	2 +	23
5671	SPAST	c.131C>T	p.Ser44Leu (p.S44L)	NM_014946.4 M	SNV	可能良性	3 +	23
240948	SPAST	c.1375C>T	p.Arg459Cys (p.R459C)	NM_001363823.2	SNV	致病突变	2 +	23
	SPAST	c.1279C>T	p.Arg427Cys (p.R427C)	NM_001363875.2	SNV	致病突变	2 +	23
	SPAST	c.1282C>T	p.Arg428Cys (p.R428C)	NM_001377959.1	SNV	致病突变	2 +	23
	SPAST	c.1282C>T	p.Arg428Cys (p.R428C)	NM_199436.2	SNV	致病突变	2 +	23
5671	SPAST	c.131C>T	p.Ser44Leu (p.S44L)	NM_001363823.2	SNV	可能良性	3 +	23
	SPAST	c.131C>T	p.Ser44Leu (p.S44L)	NM_001363875.2	SNV	可能良性	3 +	23
	SPAST	c.131C>T	p.Ser44Leu (p.S44L)	NM_001377959.1	SNV	可能良性	3 +	23
	SPAST	c.131C>T	p.Ser44Leu (p.S44L)	NM_199436.2	SNV	可能良性	3 +	23
188179	SPAST	c.1291C>T	p.Arg431Ter (p.R431X)	NM_014946.4 M	SNV	致病突变	2 +	21
	SPAST	c.1288C>T	p.Arg430Ter (p.R430X)	NM_001363823.2	SNV	致病突变	2 +	21
	SPAST	c.1192C>T	p.Arg398Ter (p.R398X)	NM_001363875.2	SNV	致病突变	2 +	21
	SPAST	c.1195C>T	p.Arg399Ter (p.R399X)	NM_001377959.1	SNV	致病突变	2 +	21
	SPAST	c.1195C>T	p.Arg399Ter (p.R399X)	NM_199436.2	SNV	致病突变	2 +	21

共370个结果, 每页展示20条

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