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基因: FH & 疾病: HLRCC, 共176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
42095	FH	c.1431_1433dup	p.Lys477Dup (p.K477dup)	NM_000143.4 M	Dup	致病突变	3 +	42
42095	FH	c.1431_1433dupAAA	--	NM_000143.4 M	Dup	致病突变	3 +	42
92455	FH	c.320A>C	p.Asn107Thr (p.N107T)	NM_000143.4 M	SNV	致病突变	2 +	18
16236	FH	c.698G>A	p.Arg233His (p.R233H)	NM_000143.4 M	SNV	致病突变	3 +	18
214422	FH	c.1189G>A	p.Gly397Arg (p.G397R)	NM_000143.4 M	SNV	致病突变	3 +	15
214374	FH	c.1093A>G	p.Ser365Gly (p.S365G)	NM_000143.4 M	SNV	致病突变	2 +	11
16237	FH	c.698G>T	p.Arg233Leu (p.R233L)	NM_000143.4 M	SNV	致病突变	2 +	11
92447	FH	c.1020T>A	p.Asn340Lys (p.N340K)	NM_000143.4 M	SNV	致病突变	2 +	11
42094	FH	c.1127A>C	p.Gln376Pro (p.Q376P)	NM_000143.4 M	SNV	致病突变	4 +	10
214419	FH	c.1097G>A	p.Ser366Asn (p.S366N)	NM_000143.4 M	SNV	致病突变	2 +	9
92452	FH	c.1293del	p.Glu432fs (p.E432fs)	NM_000143.4 M	Del	致病突变	3 +	8
92458	FH	c.952C>T	p.His318Tyr (p.H318Y)	NM_000143.4 M	SNV	致病突变	3 +	8
393578	FH	c.1118A>G	p.Asn373Ser (p.N373S)	NM_000143.4 M	SNV	致病突变	2 +	7
214373	FH	c.584T>C	p.Met195Thr (p.M195T)	NM_000143.4 M	SNV	致病突变	2 +	7
214399	FH	c.1083_1086del	p.Glu362fs (p.E362fs)	NM_000143.4 M	Del	致病突变	2 +	7
29705	FH	c.521C>G	p.Pro174Arg (p.P174R)	NM_000143.4 M	SNV	致病突变	3 +	7
393566	FH	c.556-2A>T	--	NM_000143.4 M	SNV	致病突变	2 +	6
92451	FH	c.1255T>C	p.Ser419Pro (p.S419P)	NM_000143.4 M	SNV	致病突变	2 +	6
208374	FH	c.905-1G>A	--	NM_000143.4 M	SNV	致病突变	3 +	6
184555	FH	c.700A>G	p.Thr234Ala (p.T234A)	NM_000143.4 M	SNV	致病突变	3 +	6

共176个结果, 每页展示20条

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