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基因: SLITRK2 & 疾病: XLID111, 共48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
1334881	SLITRK2	c.1381G>T	p.Glu461Ter (p.E461X)	NM_032539.5 M	SNV	致病突变	1 +	1
1334882	SLITRK2	c.1121C>G	p.Pro374Arg (p.P374R)	NM_032539.5 M	SNV	致病突变	1 +	1
1334905	SLITRK2	c.1276C>T	p.Arg426Cys (p.R426C)	NM_032539.5 M	SNV	致病突变	1 +	1
1334907	SLITRK2	c.934A>G	p.Thr312Ala (p.T312A)	NM_032539.5 M	SNV	致病突变	1 +	1
1334908	SLITRK2	c.1531G>A	p.Val511Met (p.V511M)	NM_032539.5 M	SNV	致病突变	1 +	1
1334909	SLITRK2	c.628G>A	p.Glu210Lys (p.E210K)	NM_032539.5 M	SNV	致病突变	1 +	1
1334881	SLITRK2	c.1381G>T	p.Glu461Ter (p.E461X)	NM_001144003.3	SNV	致病突变	1 +	1
	SLITRK2	c.1381G>T	p.Glu461Ter (p.E461X)	NM_001144004.3	SNV	致病突变	1 +	1
	SLITRK2	c.1381G>T	p.Glu461Ter (p.E461X)	NM_001144005.3	SNV	致病突变	1 +	1
	SLITRK2	c.1381G>T	p.Glu461Ter (p.E461X)	NM_001144006.2	SNV	致病突变	1 +	1
	SLITRK2	c.1381G>T	p.Glu461Ter (p.E461X)	NM_001144008.2	SNV	致病突变	1 +	1
	SLITRK2	c.1381G>T	p.Glu461Ter (p.E461X)	NM_001144009.2	SNV	致病突变	1 +	1
	SLITRK2	c.1381G>T	p.Glu461Ter (p.E461X)	NM_001144010.2	SNV	致病突变	1 +	1
1334882	SLITRK2	c.1121C>G	p.Pro374Arg (p.P374R)	NM_001144003.3	SNV	致病突变	1 +	1
	SLITRK2	c.1121C>G	p.Pro374Arg (p.P374R)	NM_001144004.3	SNV	致病突变	1 +	1
	SLITRK2	c.1121C>G	p.Pro374Arg (p.P374R)	NM_001144005.3	SNV	致病突变	1 +	1
	SLITRK2	c.1121C>G	p.Pro374Arg (p.P374R)	NM_001144006.2	SNV	致病突变	1 +	1
	SLITRK2	c.1121C>G	p.Pro374Arg (p.P374R)	NM_001144008.2	SNV	致病突变	1 +	1
	SLITRK2	c.1121C>G	p.Pro374Arg (p.P374R)	NM_001144009.2	SNV	致病突变	1 +	1
	SLITRK2	c.1121C>G	p.Pro374Arg (p.P374R)	NM_001144010.2	SNV	致病突变	1 +	1

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