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基因: RPGRIP1 & 疾病: CORD2, 共55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
813992	RPGRIP1	c.2367+23del	--	NM_020366.4 M	Del	致病突变	4 +	6
	RPGRIP1	c.1293+23del	--	NM_001377948.1	Del	致病突变	4 +	6
	RPGRIP1	c.796+681del	--	NM_001377949.1	Del	致病突变	4 +	6
	RPGRIP1	c.689-2217del	--	NM_001377523.1	Del	致病突变	4 +	6
	RPGRIP1	c.689-2217del	--	NM_001377950.1	Del	致病突变	4 +	6
	RPGRIP1	c.191-2217del	--	NM_001377951.1	Del	致病突变	4 +	6
812424	RPGRIP1	c.1615_1624del	p.Glu539fs (p.E539fs)	NM_020366.4 M	Del	致病突变	4 +	4
812426	RPGRIP1	c.2935C>T	p.Gln979Ter (p.Q979X)	NM_020366.4 M	SNV	致病突变	4 +	4
812424	RPGRIP1	c.541_550del	p.Glu181fs (p.E181fs)	NM_001377523.1	Del	致病突变	4 +	4
	RPGRIP1	c.541_550del	p.Glu181fs (p.E181fs)	NM_001377948.1	Del	致病突变	4 +	4
	RPGRIP1	c.541_550del	p.Glu181fs (p.E181fs)	NM_001377949.1	Del	致病突变	4 +	4
	RPGRIP1	c.541_550del	p.Glu181fs (p.E181fs)	NM_001377950.1	Del	致病突变	4 +	4
	RPGRIP1	c.43_52del	p.Glu15fs (p.E15fs)	NM_001377951.1	Del	致病突变	4 +	4
812426	RPGRIP1	c.913C>T	p.Gln305Ter (p.Q305X)	NM_001377523.1	SNV	致病突变	4 +	4
	RPGRIP1	c.1861C>T	p.Gln621Ter (p.Q621X)	NM_001377948.1	SNV	致病突变	4 +	4
	RPGRIP1	c.1021C>T	p.Gln341Ter (p.Q341X)	NM_001377949.1	SNV	致病突变	4 +	4
	RPGRIP1	c.913C>T	p.Gln305Ter (p.Q305X)	NM_001377950.1	SNV	致病突变	4 +	4
	RPGRIP1	c.415C>T	p.Gln139Ter (p.Q139X)	NM_001377951.1	SNV	致病突变	4 +	4
812427	RPGRIP1	c.2974del	p.Arg992fs (p.R992fs)	NM_020366.4 M	Del	致病突变	4 +	3
812427	RPGRIP1	c.952del	p.Arg318fs (p.R318fs)	NM_001377523.1	Del	致病突变	4 +	3

共55个结果, 每页展示20条

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