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检索条件：

基因: SDHB & 疾病: FPGL, 共95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
12781	SDHB	c.725G>A	p.Arg242His (p.R242H)	NM_003000.3 M	SNV	致病突变	4 +	41
183793	SDHB	c.137G>A	p.Arg46Gln (p.R46Q)	NM_003000.3 M	SNV	致病突变	5 +	30
142637	SDHB	c.689G>A	p.Arg230His (p.R230H)	NM_003000.3 M	SNV	致病突变	6 +	29
183814	SDHB	c.380T>G	p.Ile127Ser (p.I127S)	NM_003000.3 M	SNV	致病突变	5 +	29
12779	SDHB	c.590C>G	p.Pro197Arg (p.P197R)	NM_003000.3 M	SNV	致病突变	4 +	26
183735	SDHB	c.649C>T	p.Arg217Cys (p.R217C)	NM_003000.3 M	SNV	致病突变	4 +	26
183747	SDHB	c.600G>T	p.Trp200Cys (p.W200C)	NM_003000.3 M	SNV	致病突变	4 +	24
18454	SDHB	c.418G>T	p.Val140Phe (p.V140F)	NM_003000.3 M	SNV	致病突变	4 +	23
230070	SDHB	c.587G>A	p.Cys196Tyr (p.C196Y)	NM_003000.3 M	SNV	致病突变	4 +	22
44642	SDHB	c.287-1G>C	--	NM_003000.3 M	SNV	致病突变	4 +	22
44642	SDHB	c.287-1G>C	--	NM_001407361.1	SNV	致病突变	4 +	22
12778	SDHB	c.268C>T	p.Arg90Ter (p.R90X)	NM_003000.3 M	SNV	致病突变	6 +	20
185077	SDHB	c.688C>T	p.Arg230Cys (p.R230C)	NM_003000.3 M	SNV	致病突变	4 +	20
29896	SDHB	c.423+1G>A	--	NM_003000.3 M	SNV	致病突变	5 +	20
29896	SDHB	c.369+55G>A	--	NM_001407361.1	SNV	致病突变	5 +	20
142764	SDHB	c.72+1G>T	--	NM_003000.3 M	SNV	致病突变	5 +	19
142764	SDHB	c.72+1G>T	--	NM_001407361.1	SNV	致病突变	5 +	19
12792	SDHB	c.487T>C	p.Ser163Pro (p.S163P)	NM_003000.3 M	SNV	可能良性	7 +	18
197210	SDHB	c.343C>T	p.Arg115Ter (p.R115X)	NM_003000.3 M	SNV	致病突变	4 +	17
142763	SDHB	c.136C>T	p.Arg46Ter (p.R46X)	NM_003000.3 M	SNV	致病突变	4 +	17

共95个结果, 每页展示20条

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