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基因: SLC6A17 & 疾病: MRT48, 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
187770	SLC6A17	c.1898C>G	p.Pro633Arg (p.P633R)	NM_001010898.4 M	SNV	致病突变	1 +	1
187769	SLC6A17	c.484G>A	p.Gly162Arg (p.G162R)	NM_001010898.4 M	SNV	致病突变	1 +	1
1034370	SLC6A17	c.1957G>A	p.Val653Met (p.V653M)	NM_001010898.4 M	SNV	未确定	1 +	0
1034371	SLC6A17	c.29G>A	p.Arg10His (p.R10H)	NM_001010898.4 M	SNV	未确定	1 +	0
436762	SLC6A17	c.525G>A	p.Pro175= (p.P175=)	NM_001010898.4 M	SNV	可能良性	1 +	0
436763	SLC6A17	c.824G>A	p.Arg275Gln (p.R275Q)	NM_001010898.4 M	SNV	未确定	1 +	0
436765	SLC6A17	c.1287C>T	p.Asp429= (p.D429=)	NM_001010898.4 M	SNV	可能良性	1 +	0
436766	SLC6A17	c.1723G>A	p.Val575Met (p.V575M)	NM_001010898.4 M	SNV	未确定	1 +	0
1031719	SLC6A17	c.754-4G>A	--	NM_001010898.4 M	SNV	未确定	1 +	0
1031720	SLC6A17	c.852G>A	p.Met284Ile (p.M284I)	NM_001010898.4 M	SNV	未确定	1 +	0
376873	SLC6A17	c.2036A>G	p.Lys679Arg (p.K679R)	NM_001010898.4 M	SNV	可能良性	1 +	0
1709501	SLC6A17	c.351G>T	p.Glu117Asp (p.E117D)	NM_001010898.4 M	SNV	未确定	1 +	0
1709502	SLC6A17	c.374G>A	p.Arg125His (p.R125H)	NM_001010898.4 M	SNV	未确定	1 +	0
723416	SLC6A17	c.286+10A>G	--	NM_001010898.4 M	SNV	可能良性	1 +	0
1333111	SLC6A17	c.168T>C	p.Asp56= (p.D56=)	NM_001010898.4 M	SNV	良性突变	1 +	0
1333112	SLC6A17	c.169G>A	p.Ala57Thr (p.A57T)	NM_001010898.4 M	SNV	良性突变	1 +	0
2585675	SLC6A17	c.1816-10C>T	--	NM_001010898.4 M	SNV	良性突变	1 +	0
2585674	SLC6A17	c.1581G>A	p.Ser527= (p.S527=)	NM_001010898.4 M	SNV	良性突变	1 +	0

共18个结果, 每页展示20条

1

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