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检索条件：

基因: FAM20C & 疾病: RNS, 共39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
1025	FAM20C	c.1645C>T	p.Arg549Trp (p.R549W)	NM_020223.4 M	SNV	致病突变	1 +	4
1026	FAM20C	c.957-3C>G	--	NM_020223.4 M	SNV	致病突变	1 +	2
1024	FAM20C	c.1163T>G	p.Leu388Arg (p.L388R)	NM_020223.4 M	SNV	致病突变	1 +	2
30875	FAM20C	c.1351G>A	p.Asp451Asn (p.D451N)	NM_020223.4 M	SNV	致病突变	1 +	1
30878	FAM20C	c.982C>T	p.Pro328Ser (p.P328S)	NM_020223.4 M	SNV	致病突变	1 +	1
30877	FAM20C	c.796G>A	p.Gly266Arg (p.G266R)	NM_020223.4 M	SNV	致病突变	1 +	1
30876	FAM20C	c.737T>A	p.Ile246Asn (p.I246N)	NM_020223.4 M	SNV	致病突变	1 +	1
289269	FAM20C	c.1228T>A	p.Ser410Thr (p.S410T)	NM_020223.4 M	SNV	可能致病	1 +	1
1023	FAM20C	c.1093G>C	p.Gly365Arg (p.G365R)	NM_020223.4 M	SNV	致病突变	1 +	1
1027	FAM20C	c.1136G>A	p.Gly379Glu (p.G379E)	NM_020223.4 M	SNV	致病突变	1 +	1
1028	FAM20C	c.1364-2A>G	--	NM_020223.4 M	SNV	致病突变	1 +	1
1029	FAM20C	c.956+5G>C	--	NM_020223.4 M	SNV	致病突变	1 +	1
1030	FAM20C	c.1446-1G>A	--	NM_020223.4 M	SNV	致病突变	1 +	1
1676667	FAM20C	c.1094G>A	p.Gly365Asp (p.G365D)	NM_020223.4 M	SNV	致病突变	1 +	1
1333203	FAM20C	c.838G>A	p.Gly280Arg (p.G280R)	NM_020223.4 M	SNV	未确定	1 +	1
935951	FAM20C	c.1690A>C	p.Asn564His (p.N564H)	NM_020223.4 M	SNV	未确定	1 +	0
720953	FAM20C	c.731C>T	p.Pro244Leu (p.P244L)	NM_020223.4 M	SNV	可能良性	1 +	0
1275970	FAM20C	c.1072+23A>G	--	NM_020223.4 M	SNV	良性突变	1 +	0
1165383	FAM20C	c.784+19A>T	--	NM_020223.4 M	SNV	可能良性	1 +	0
1601716	FAM20C	c.1748C>T	p.Ala583Val (p.A583V)	NM_020223.4 M	SNV	可能良性	1 +	0

共39个结果, 每页展示20条

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