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基因: TRIM8 & 疾病: FSGSNEDS, 共32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
1805889	TRIM8	c.1357C>T	p.Gln453Ter (p.Q453X)	NM_030912.3 M	SNV	致病突变	1 +	4
1805889	TRIM8	c.1261C>T	p.Gln421Ter (p.Q421X)	NM_001345950.1	SNV	致病突变	1 +	4
1699050	TRIM8	c.1257C>A	p.Cys419Ter (p.C419X)	NM_030912.3 M	SNV	致病突变	1 +	3
1699050	TRIM8	c.1161C>A	p.Cys387Ter (p.C387X)	NM_001345950.1	SNV	致病突变	1 +	3
1189048	TRIM8	c.1380T>A	p.Tyr460Ter (p.Y460X)	NM_030912.3 M	SNV	致病突变	2 +	2
584442	TRIM8	c.1375C>T	p.Gln459Ter (p.Q459X)	NM_030912.3 M	SNV	致病突变	2 +	2
1189048	TRIM8	c.1284T>A	p.Tyr428Ter (p.Y428X)	NM_001345950.1	SNV	致病突变	2 +	2
584442	TRIM8	c.1279C>T	p.Gln427Ter (p.Q427X)	NM_001345950.1	SNV	致病突变	2 +	2
1703082	TRIM8	c.1062del	p.Pro355fs (p.P355fs)	NM_030912.3 M	Del	可能致病	1 +	1
1189042	TRIM8	c.1338T>A	p.Tyr446Ter (p.Y446X)	NM_030912.3 M	SNV	致病突变	1 +	1
1189043	TRIM8	c.1331C>A	p.Ser444Ter (p.S444X)	NM_030912.3 M	SNV	致病突变	1 +	1
1189046	TRIM8	c.1198_1220del	p.Tyr400fs (p.Y400fs)	NM_030912.3 M	Del	致病突变	1 +	1
1189050	TRIM8	c.1163del	p.Phe388fs (p.F388fs)	NM_030912.3 M	Del	致病突变	2 +	1
1189052	TRIM8	c.1231C>T	p.Gln411Ter (p.Q411X)	NM_030912.3 M	SNV	致病突变	2 +	1
1526073	TRIM8	c.1200C>G	p.Tyr400Ter (p.Y400X)	NM_030912.3 M	SNV	可能致病	1 +	1
1299333	TRIM8	c.167_169delinsTCT	p.Asn56_Gln57delinsIleTer	NM_030912.3 M	Indel	未确定	1 +	1
1342896	TRIM8	c.1213_1219delinsCAGTACGG	p.Thr405fs (p.T405fs)	NM_030912.3 M	Indel	未确定	1 +	1
1803749	TRIM8	c.553C>T	p.Arg185Ter (p.R185X)	NM_030912.3 M	SNV	未确定	1 +	1
1189054	TRIM8	c.1333C>T	p.Gln445Ter (p.Q445X)	NM_030912.3 M	SNV	致病突变	2 +	1
2582847	TRIM8	c.1200C>A	p.Tyr400Ter (p.Y400X)	NM_030912.3 M	SNV	致病突变	1 +	1

共32个结果, 每页展示20条

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