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基因: TFR2 & 疾病: HFE3, 共286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
21362	TFR2	c.1186C>T	p.Arg396Ter (p.R396X)	NM_003227.4 M	SNV	致病突变	3 +	5
21370	TFR2	c.1849GCCGTGGCCCAG[1]	p.617AVAQ[1]	NM_003227.4 M	MS	致病突变	3 +	5
21370	TFR2	c.1861_1872del	--	NM_003227.4 M	MS	致病突变	3 +	5
5381	TFR2	c.88dup	p.Arg30fs (p.R30fs)	NM_003227.4 M	Dup	致病突变	3 +	5
21362	TFR2	c.673C>T	p.Arg225Ter (p.R225X)	NM_001206855.3	SNV	致病突变	3 +	5
21370	TFR2	c.1336GCCGTGGCCCAG[1]	p.446AVAQ[1]	NM_001206855.3	MS	致病突变	3 +	5
21371	TFR2	c.2137-1G>A	--	NM_003227.4 M	SNV	致病突变	3 +	4
21373	TFR2	c.224C>T	p.Ala75Val (p.A75V)	NM_003227.4 M	SNV	可能良性	3 +	4
21375	TFR2	c.313C>T	p.Arg105Ter (p.R105X)	NM_003227.4 M	SNV	致病突变	3 +	4
21371	TFR2	c.1624-1G>A	--	NM_001206855.3	SNV	致病突变	3 +	4
21369	TFR2	c.1851C>T	p.Ala617= (p.A617=)	NM_003227.4 M	SNV	良性突变	3 +	3
21377	TFR2	c.64G>A	p.Val22Ile (p.V22I)	NM_003227.4 M	SNV	未确定	2 +	3
21374	TFR2	c.2374G>A	p.Gly792Arg (p.G792R)	NM_003227.4 M	SNV	可能致病	3 +	3
5382	TFR2	c.515T>A	p.Met172Lys (p.M172K)	NM_003227.4 M	SNV	致病突变	2 +	3
5383	TFR2	c.1364G>A	p.Arg455Gln (p.R455Q)	NM_003227.4 M	SNV	可能良性	3 +	3
859038	TFR2	c.2343G>A	p.Trp781Ter (p.W781X)	NM_003227.4 M	SNV	致病突变	3 +	3
21369	TFR2	c.1338C>T	p.Ala446= (p.A446=)	NM_001206855.3	SNV	良性突变	3 +	3
21374	TFR2	c.1861G>A	p.Gly621Arg (p.G621R)	NM_001206855.3	SNV	可能致病	3 +	3
5382	TFR2	c.2T>A	p.Met1Lys (p.M1K)	NM_001206855.3	SNV	致病突变	2 +	3
5383	TFR2	c.851G>A	p.Arg284Gln (p.R284Q)	NM_001206855.3	SNV	可能良性	3 +	3

286 Results, 20 per Page

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