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基因: GDF6 & 疾病: MCOPCB6, 共266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
8371	GDF6	c.746C>A	p.Ala249Glu (p.A249E)	NM_001001557.4 M	SNV	致病突变	7 +	5
30159	GDF6	c.595G>A	p.Ala199Thr (p.A199T)	NM_001001557.4 M	SNV	致病突变	4 +	2
364051	GDF6	c.356A>G	p.Gln119Arg (p.Q119R)	NM_001001557.4 M	SNV	可能良性	4 +	2
8372	GDF6	c.866T>C	p.Leu289Pro (p.L289P)	NM_001001557.4 M	SNV	致病突变	4 +	1
8373	GDF6	c.1271A>G	p.Lys424Arg (p.K424R)	NM_001001557.4 M	SNV	致病突变	7 +	1
8374	GDF6	c.125G>T	p.Gly42Val (p.G42V)	NM_001001557.4 M	SNV	致病突变	4 +	1
8375	GDF6	c.758A>T	p.Gln253Leu (p.Q253L)	NM_001001557.4 M	SNV	致病突变	4 +	1
8376	GDF6	c.980C>A	p.Pro327His (p.P327H)	NM_001001557.4 M	SNV	致病突变	4 +	1
1384796	GDF6	c.457T>C	p.Ser153Pro (p.S153P)	NM_001001557.4 M	SNV	未确定	4 +	1
256847	GDF6	c.255G>T	p.Pro85= (p.P85=)	NM_001001557.4 M	SNV	可能良性	5 +	1
1405805	GDF6	c.460A>C	p.Met154Leu (p.M154L)	NM_001001557.4 M	SNV	未确定	4 +	1
707560	GDF6	c.24C>G	p.Leu8= (p.L8=)	NM_001001557.4 M	SNV	可能良性	4 +	1
707574	GDF6	c.112G>C	p.Gly38Arg (p.G38R)	NM_001001557.4 M	SNV	可能良性	5 +	1
60534	GDF6	c.169G>C	p.Asp57His (p.D57H)	NM_001001557.4 M	SNV	致病突变	4 +	1
863448	GDF6	c.322G>A	p.Ala108Thr (p.A108T)	NM_001001557.4 M	SNV	良性突变	4 +	1
1449223	GDF6	c.647A>G	p.Asp216Gly (p.D216G)	NM_001001557.4 M	SNV	未确定	4 +	1
364046	GDF6	c.852C>G	p.Ser284= (p.S284=)	NM_001001557.4 M	SNV	可能良性	4 +	1
2127688	GDF6	c.449T>C	p.Phe150Ser (p.F150S)	NM_001001557.4 M	SNV	未确定	4 +	1
1058818	GDF6	c.224C>G	p.Pro75Arg (p.P75R)	NM_001001557.4 M	SNV	未确定	4 +	0
1959955	GDF6	c.454G>A	p.Val152Met (p.V152M)	NM_001001557.4 M	SNV	未确定	4 +	0

266 Results, 20 per Page

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