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基因: PAX9 & 疾病: STHAG3, 共156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
13779	PAX9	c.151G>A	p.Gly51Ser (p.G51S)	NM_001372076.1 M	SNV	致病突变	1 +	4
13779	PAX9	c.151G>A	p.Gly51Ser (p.G51S)	NM_006194.4	SNV	致病突变	1 +	4
13774	PAX9	c.76C>T	p.Arg26Trp (p.R26W)	NM_001372076.1 M	SNV	致病突变	1 +	3
13774	PAX9	c.76C>T	p.Arg26Trp (p.R26W)	NM_006194.4	SNV	致病突变	1 +	3
313171	PAX9	c.717C>T	p.His239= (p.H239=)	NM_001372076.1 M	SNV	良性突变	3 +	2
259937	PAX9	c.718G>C	p.Ala240Pro (p.A240P)	NM_001372076.1 M	SNV	良性突变	3 +	2
13767	PAX9	c.218dup	p.Ser74fs (p.S74fs)	NM_001372076.1 M	Dup	致病突变	1 +	2
13770	PAX9	c.271A>G	p.Lys91Glu (p.K91E)	NM_001372076.1 M	SNV	致病突变	3 +	2
13771	PAX9	c.62T>C	p.Leu21Pro (p.L21P)	NM_001372076.1 M	SNV	致病突变	1 +	2
13775	PAX9	c.259A>T	p.Ile87Phe (p.I87F)	NM_001372076.1 M	SNV	致病突变	3 +	2
13781	PAX9	c.139C>T	p.Arg47Trp (p.R47W)	NM_001372076.1 M	SNV	致病突变	1 +	2
13777	PAX9	c.1A>G	p.Met1Val (p.M1V)	NM_001372076.1 M	SNV	致病突变	1 +	2
313171	PAX9	c.717C>T	p.His239= (p.H239=)	NM_006194.4	SNV	良性突变	3 +	2
259937	PAX9	c.718G>C	p.Ala240Pro (p.A240P)	NM_006194.4	SNV	良性突变	3 +	2
13767	PAX9	c.218dup	p.Ser74fs (p.S74fs)	NM_006194.4	Dup	致病突变	1 +	2
13770	PAX9	c.271A>G	p.Lys91Glu (p.K91E)	NM_006194.4	SNV	致病突变	3 +	2
13771	PAX9	c.62T>C	p.Leu21Pro (p.L21P)	NM_006194.4	SNV	致病突变	1 +	2
13775	PAX9	c.259A>T	p.Ile87Phe (p.I87F)	NM_006194.4	SNV	致病突变	3 +	2
13781	PAX9	c.139C>T	p.Arg47Trp (p.R47W)	NM_006194.4	SNV	致病突变	1 +	2
13777	PAX9	c.1A>G	p.Met1Val (p.M1V)	NM_006194.4	SNV	致病突变	1 +	2

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