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基因: TLL1 & 疾病: ASD6, 共18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
1678575	TLL1	c.1414C>T	p.Gln472Ter (p.Q472X)	NM_012464.5 M	SNV	未确定	1 +	2
2498219	TLL1	c.1472A>G	p.Lys491Arg (p.K491R)	NM_012464.5 M	SNV	未确定	1 +	1
690359	TLL1	c.1379-2A>G	--	NM_012464.5 M	SNV	致病突变	1 +	1
4074	TLL1	c.544A>C	p.Met182Leu (p.M182L)	NM_012464.5 M	SNV	致病突变	1 +	1
4076	TLL1	c.1885A>G	p.Ile629Val (p.I629V)	NM_012464.5 M	SNV	致病突变	1 +	1
4075	TLL1	c.713T>C	p.Val238Ala (p.V238A)	NM_012464.5 M	SNV	致病突变	1 +	1
4074	TLL1	c.544A>C	p.Met182Leu (p.M182L)	NM_001204760.2	SNV	致病突变	1 +	1
4075	TLL1	c.713T>C	p.Val238Ala (p.V238A)	NM_001204760.2	SNV	致病突变	1 +	1
1806097	TLL1	c.1729G>A	p.Glu577Lys (p.E577K)	NM_012464.5 M	SNV	未确定	1 +	0
1806100	TLL1	c.3015T>A	p.Tyr1005Ter (p.Y1005X)	NM_012464.5 M	SNV	未确定	1 +	0
1325537	TLL1	c.2993T>A	p.Ile998Lys (p.I998K)	NM_012464.5 M	SNV	未确定	1 +	0
2437103	TLL1	c.2540G>A	p.Arg847Gln (p.R847Q)	NM_012464.5 M	SNV	未确定	1 +	0
2437104	TLL1	c.2783G>A	p.Arg928Gln (p.R928Q)	NM_012464.5 M	SNV	可能良性	1 +	0
2437105	TLL1	c.1399C>T	p.Arg467Cys (p.R467C)	NM_012464.5 M	SNV	未确定	1 +	0
2437106	TLL1	c.1669G>C	p.Val557Leu (p.V557L)	NM_012464.5 M	SNV	未确定	1 +	0
2437107	TLL1	c.2044C>A	p.Leu682Ile (p.L682I)	NM_012464.5 M	SNV	未确定	1 +	0
2581026	TLL1	c.985C>T	p.Arg329Ter (p.R329X)	NM_012464.5 M	SNV	未确定	1 +	0
2581026	TLL1	c.985C>T	p.Arg329Ter (p.R329X)	NM_001204760.2	SNV	未确定	1 +	0

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