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基因: FUS & 疾病: ALS6, 共838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
16222	FUS	c.1561C>G	p.Arg521Gly (p.R521G)	NM_004960.4 M	SNV	致病突变	3 +	22
	FUS	c.1558C>G	p.Arg520Gly (p.R520G)	NM_001170634.1	SNV	致病突变	3 +	22
	FUS	c.1549C>G	p.Arg517Gly (p.R517G)	NM_001170937.1	SNV	致病突变	3 +	22
280110	FUS	c.1574C>T	p.Pro525Leu (p.P525L)	NM_004960.4 M	SNV	致病突变	4 +	19
	FUS	c.1571C>T	p.Pro524Leu (p.P524L)	NM_001170634.1	SNV	致病突变	4 +	19
	FUS	c.1562C>T	p.Pro521Leu (p.P521L)	NM_001170937.1	SNV	致病突变	4 +	19
29707	FUS	c.1483C>T	p.Arg495Ter (p.R495X)	NM_004960.4 M	SNV	致病突变	2 +	17
	FUS	c.1480C>T	p.Arg494Ter (p.R494X)	NM_001170634.1	SNV	致病突变	2 +	17
	FUS	c.1471C>T	p.Arg491Ter (p.R491X)	NM_001170937.1	SNV	致病突变	2 +	17
1485282	FUS	c.1391_1392dup	p.Gly465fs (p.G465fs)	NM_004960.4 M	Dup	致病突变	3 +	12
540280	FUS	c.1566G>A	p.Arg522= (p.R522=)	NM_004960.4 M	SNV	可能良性	3 +	12
1485282	FUS	c.1388_1389dup	p.Gly464fs (p.G464fs)	NM_001170634.1	Dup	致病突变	3 +	12
1485282	FUS	c.1379_1380dup	p.Gly461fs (p.G461fs)	NM_001170937.1	Dup	致病突变	3 +	12
540280	FUS	c.1563G>A	p.Arg521= (p.R521=)	NM_001170634.1	SNV	可能良性	3 +	12
540280	FUS	c.1554G>A	p.Arg518= (p.R518=)	NM_001170937.1	SNV	可能良性	3 +	12
16224	FUS	c.1561C>T	p.Arg521Cys (p.R521C)	NM_004960.4 M	SNV	致病突变	3 +	10
16225	FUS	c.1562G>A	p.Arg521His (p.R521H)	NM_004960.4 M	SNV	致病突变	3 +	10
16224	FUS	c.1558C>T	p.Arg520Cys (p.R520C)	NM_001170634.1	SNV	致病突变	3 +	10
16224	FUS	c.1549C>T	p.Arg517Cys (p.R517C)	NM_001170937.1	SNV	致病突变	3 +	10
16225	FUS	c.1559G>A	p.Arg520His (p.R520H)	NM_001170634.1	SNV	致病突变	3 +	10

共838个结果, 每页展示20条

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