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基因: BBS2 & 疾病: CORD2, 共20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
4578	BBS2	c.1895G>C	p.Arg632Pro (p.R632P)	NM_031885.5 M	SNV	致病突变	6 +	21
4578	BBS2	c.1895G>C	p.Arg632Pro (p.R632P)	NM_001377456.1	SNV	致病突变	6 +	21
4577	BBS2	c.311A>C	p.Asp104Ala (p.D104A)	NM_031885.5 M	SNV	致病突变	5 +	9
4577	BBS2	c.311A>C	p.Asp104Ala (p.D104A)	NM_001377456.1	SNV	致病突变	5 +	9
4570	BBS2	c.72C>G	p.Tyr24Ter (p.Y24X)	NM_031885.5 M	SNV	致病突变	6 +	8
4570	BBS2	c.72C>G	p.Tyr24Ter (p.Y24X)	NM_001377456.1	SNV	致病突变	6 +	8
208564	BBS2	c.661del	p.Leu221fs (p.L221fs)	NM_031885.5 M	Del	致病突变	4 +	6
208564	BBS2	c.661del	p.Leu221fs (p.L221fs)	NM_001377456.1	Del	致病突变	4 +	6
1297143	BBS2	c.940+3A>C	--	NM_031885.5 M	SNV	未确定	3 +	4
1297143	BBS2	c.940+3A>C	--	NM_001377456.1	SNV	未确定	3 +	4
209042	BBS2	c.98C>A	p.Ala33Asp (p.A33D)	NM_031885.5 M	SNV	致病突变	5 +	2
209043	BBS2	c.401C>G	p.Pro134Arg (p.P134R)	NM_031885.5 M	SNV	致病突变	6 +	2
209042	BBS2	c.98C>A	p.Ala33Asp (p.A33D)	NM_001377456.1	SNV	致病突变	5 +	2
209043	BBS2	c.401C>G	p.Pro134Arg (p.P134R)	NM_001377456.1	SNV	致病突变	6 +	2
1297139	BBS2	c.851A>T	p.Asn284Ile (p.N284I)	NM_031885.5 M	SNV	未确定	2 +	1
636152	BBS2	c.1290dup	p.His431fs (p.H431fs)	NM_031885.5 M	Dup	致病突变	2 +	1
623887	BBS2	c.413T>G	p.Ile138Ser (p.I138S)	NM_031885.5 M	SNV	致病突变	2 +	1
1297139	BBS2	c.851A>T	p.Asn284Ile (p.N284I)	NM_001377456.1	SNV	未确定	2 +	1
636152	BBS2	c.1290dup	p.His431fs (p.H431fs)	NM_001377456.1	Dup	致病突变	2 +	1
623887	BBS2	c.413T>G	p.Ile138Ser (p.I138S)	NM_001377456.1	SNV	致病突变	2 +	1

共20个结果, 每页展示20条

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