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Gene: CRB1 & Disease: PPCRA, 503 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
99913	CRB1	c.613_619delATAGGAA	--	NM_201253.3 M	Del	P	8 +	12
99913	CRB1	c.613_619del	p.Ile205fs (p.I205fs)	NM_201253.3 M	Del	P	8 +	12
427863	CRB1	c.2842T>C	p.Cys948Arg (p.C948R)	NM_201253.3 M	SNV	P	5 +	12
5732	CRB1	c.2290C>T	p.Arg764Cys (p.R764C)	NM_201253.3 M	SNV	P	6 +	12
39614	CRB1	c.2843G>A	p.Cys948Tyr (p.C948Y)	NM_201253.3 M	SNV	P	8 +	12
99913	CRB1	c.613_619del	p.Ile205fs (p.I205fs)	NM_001193640.2	Del	P	8 +	12
	CRB1	c.406_412del	p.Ile136fs (p.I136fs)	NM_001257965.2	Del	P	8 +	12
	CRB1	c.613_619del	p.Ile205fs (p.I205fs)	NM_001257966.2	Del	P	8 +	12
427863	CRB1	c.2506T>C	p.Cys836Arg (p.C836R)	NM_001193640.2	SNV	P	5 +	12
	CRB1	c.2770T>C	p.Cys924Arg (p.C924R)	NM_001257965.2	SNV	P	5 +	12
	CRB1	c.2129-5986T>C	--	NM_001257966.2	SNV	P	5 +	12
5732	CRB1	c.1954C>T	p.Arg652Cys (p.R652C)	NM_001193640.2	SNV	P	6 +	12
	CRB1	c.2083C>T	p.Arg695Cys (p.R695C)	NM_001257965.2	SNV	P	6 +	12
	CRB1	c.2128+5659C>T	--	NM_001257966.2	SNV	P	6 +	12
39614	CRB1	c.2507G>A	p.Cys836Tyr (p.C836Y)	NM_001193640.2	SNV	P	8 +	12
	CRB1	c.2771G>A	p.Cys924Tyr (p.C924Y)	NM_001257965.2	SNV	P	8 +	12
	CRB1	c.2129-894G>A	--	NM_001257966.2	SNV	P	8 +	12
5736	CRB1	c.2401A>T	p.Lys801Ter (p.K801X)	NM_201253.3 M	SNV	P	7 +	11
	CRB1	c.2128+5770A>T	--	NM_001257966.2	SNV	P	7 +	11
	CRB1	c.2065A>T	p.Lys689Ter (p.K689X)	NM_001193640.2	SNV	P	7 +	11

503 Results, 20 per Page

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