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基因: AGXT & 疾病: HP1, 共347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
40166	AGXT	c.508G>A	p.Gly170Arg (p.G170R)	NM_000030.3 M	SNV	致病突变	2 +	32
5641	AGXT	c.32C>T	p.Pro11Leu (p.P11L)	NM_000030.3 M	SNV	可能良性	1 +	15
5646	AGXT	c.731T>C	p.Ile244Thr (p.I244T)	NM_000030.3 M	SNV	致病突变	4 +	12
188891	AGXT	c.322T>C	p.Trp108Arg (p.W108R)	NM_000030.3 M	SNV	致病突变	1 +	12
5644	AGXT	c.121G>A	p.Gly41Arg (p.G41R)	NM_000030.3 M	SNV	致病突变	4 +	12
140583	AGXT	c.33dup	p.Lys12fs (p.K12fs)	NM_000030.3 M	Dup	致病突变	3 +	12
140583	AGXT	c.33dupC	--	NM_000030.3 M	Dup	致病突变	3 +	12
204168	AGXT	c.847-1G>C	--	NM_000030.3 M	SNV	致病突变	2 +	11
5645	AGXT	c.454T>A	p.Phe152Ile (p.F152I)	NM_000030.3 M	SNV	致病突变	2 +	11
188985	AGXT	c.122G>T	p.Gly41Val (p.G41V)	NM_000030.3 M	SNV	致病突变	1 +	11
204069	AGXT	c.32C>G	p.Pro11Arg (p.P11R)	NM_000030.3 M	SNV	致病突变	2 +	11
204169	AGXT	c.847-3C>G	--	NM_000030.3 M	SNV	致病突变	1 +	10
5647	AGXT	c.697C>T	p.Arg233Cys (p.R233C)	NM_000030.3 M	SNV	致病突变	1 +	10
189047	AGXT	c.568G>A	p.Gly190Arg (p.G190R)	NM_000030.3 M	SNV	致病突变	1 +	10
188738	AGXT	c.481G>T	p.Gly161Cys (p.G161C)	NM_000030.3 M	SNV	致病突变	1 +	10
204103	AGXT	c.473C>T	p.Ser158Leu (p.S158L)	NM_000030.3 M	SNV	致病突变	1 +	10
204147	AGXT	c.1079G>A	p.Arg360Gln (p.R360Q)	NM_000030.3 M	SNV	致病突变	1 +	9
189161	AGXT	c.976del	p.Val326fs (p.V326fs)	NM_000030.3 M	Del	致病突变	2 +	9
188979	AGXT	c.653C>T	p.Ser218Leu (p.S218L)	NM_000030.3 M	SNV	致病突变	1 +	9
140584	AGXT	c.560C>T	p.Ser187Phe (p.S187F)	NM_000030.3 M	SNV	致病突变	2 +	9

347 Results, 20 per Page

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