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基因: LACC1 & 疾病: JUVAR, 共131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
1300105	LACC1	c.760A>G	p.Ile254Val (p.I254V)	NM_153218.4 M	SNV	良性突变	2 +	1
180673	LACC1	c.850T>C	p.Cys284Arg (p.C284R)	NM_153218.4 M	SNV	致病突变	1 +	1
814022	LACC1	c.827del	p.Thr276fs (p.T276fs)	NM_153218.4 M	Del	致病突变	1 +	1
814023	LACC1	c.3G>A	p.Met1Ile (p.M1I)	NM_153218.4 M	SNV	致病突变	1 +	1
814024	LACC1	c.1240C>T	p.Arg414Ter (p.R414X)	NM_153218.4 M	SNV	致病突变	1 +	1
814025	LACC1	c.988_990del	p.Ile330Del (p.I330del)	NM_153218.4 M	Del	致病突变	1 +	1
814026	LACC1	c.128_129del	p.Cys43fs (p.C43fs)	NM_153218.4 M	Del	致病突变	1 +	1
1686635	LACC1	c.781_795del	--	NM_153218.4 M	Del	可能致病	1 +	1
1686635	LACC1	c.783_797del	p.Glu261_Tyr265del	NM_153218.4 M	Del	可能致病	1 +	1
1332847	LACC1	c.832G>C	p.Ala278Pro (p.A278P)	NM_153218.4 M	SNV	未确定	1 +	1
1300105	LACC1	c.760A>G	p.Ile254Val (p.I254V)	NM_001128303.2	SNV	良性突变	2 +	1
	LACC1	c.760A>G	p.Ile254Val (p.I254V)	NM_001350638.2	SNV	良性突变	2 +	1
	LACC1	c.760A>G	p.Ile254Val (p.I254V)	NM_001350639.2	SNV	良性突变	2 +	1
	LACC1	c.760A>G	p.Ile254Val (p.I254V)	NM_001350640.2	SNV	良性突变	2 +	1
	LACC1	c.760A>G	p.Ile254Val (p.I254V)	NM_001350641.2	SNV	良性突变	2 +	1
	LACC1	c.760A>G	p.Ile254Val (p.I254V)	NM_001350642.2	SNV	良性突变	2 +	1
	LACC1	c.760A>G	p.Ile254Val (p.I254V)	NM_001350643.2	SNV	良性突变	2 +	1
	LACC1	c.-9A>G	--	NM_001350644.2	SNV	良性突变	2 +	1
	LACC1	c.-9A>G	--	NM_001350645.2	SNV	良性突变	2 +	1
	LACC1	c.-9A>G	--	NM_001350646.2	SNV	良性突变	2 +	1

共131个结果, 每页展示20条

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