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基因: PAX9 & 疾病: STHAG1, 共85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
526772	PAX9	c.180C>A	p.Tyr60Ter (p.Y60X)	NM_001372076.1 M	SNV	致病突变	2 +	4
526772	PAX9	c.180C>A	p.Tyr60Ter (p.Y60X)	NM_006194.4	SNV	致病突变	2 +	4
1351209	PAX9	c.482C>A	p.Ser161Ter (p.S161X)	NM_001372076.1 M	SNV	致病突变	2 +	3
2094636	PAX9	c.285del	p.Gly96fs (p.G96fs)	NM_001372076.1 M	Del	致病突变	2 +	3
1070666	PAX9	c.451C>T	p.Gln151Ter (p.Q151X)	NM_001372076.1 M	SNV	致病突变	2 +	3
1076521	PAX9	c.72_76dup	p.Arg26fs (p.R26fs)	NM_001372076.1 M	Dup	致病突变	2 +	3
1075023	PAX9	c.608del	p.Gly203fs (p.G203fs)	NM_001372076.1 M	Del	致病突变	2 +	3
1351539	PAX9	c.420C>A	p.Tyr140Ter (p.Y140X)	NM_001372076.1 M	SNV	致病突变	2 +	3
1458120	PAX9	c.428dup	p.Tyr143Ter (p.Y143X)	NM_001372076.1 M	Dup	致病突变	2 +	3
1999853	PAX9	c.77G>A	p.Arg26Gln (p.R26Q)	NM_001372076.1 M	SNV	未确定	2 +	3
1351209	PAX9	c.482C>A	p.Ser161Ter (p.S161X)	NM_006194.4	SNV	致病突变	2 +	3
2094636	PAX9	c.285del	p.Gly96fs (p.G96fs)	NM_006194.4	Del	致病突变	2 +	3
1070666	PAX9	c.451C>T	p.Gln151Ter (p.Q151X)	NM_006194.4	SNV	致病突变	2 +	3
1076521	PAX9	c.72_76dup	p.Arg26fs (p.R26fs)	NM_006194.4	Dup	致病突变	2 +	3
1075023	PAX9	c.608del	p.Gly203fs (p.G203fs)	NM_006194.4	Del	致病突变	2 +	3
1351539	PAX9	c.420C>A	p.Tyr140Ter (p.Y140X)	NM_006194.4	SNV	致病突变	2 +	3
1458120	PAX9	c.428dup	p.Tyr143Ter (p.Y143X)	NM_006194.4	Dup	致病突变	2 +	3
1999853	PAX9	c.77G>A	p.Arg26Gln (p.R26Q)	NM_006194.4	SNV	未确定	2 +	3
649310	PAX9	c.2T>A	p.Met1Lys (p.M1K)	NM_001372076.1 M	SNV	可能致病	2 +	2
313171	PAX9	c.717C>T	p.His239= (p.H239=)	NM_001372076.1 M	SNV	良性突变	3 +	2

共85个结果, 每页展示20条

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