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Gene: CACNA1F & Disease: Fundus Dystrophy, 69 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
853468	CACNA1F	c.3862C>T	p.Arg1288Ter (p.R1288X)	NM_001256789.3 M	SNV	P	1 +	8
497205	CACNA1F	c.1504C>T	p.Arg502Ter (p.R502X)	NM_001256789.3 M	SNV	P	1 +	8
853468	CACNA1F	c.3700C>T	p.Arg1234Ter (p.R1234X)	NM_001256790.3	SNV	P	1 +	8
853468	CACNA1F	c.3895C>T	p.Arg1299Ter (p.R1299X)	NM_005183.4	SNV	P	1 +	8
497205	CACNA1F	c.1342C>T	p.Arg448Ter (p.R448X)	NM_001256790.3	SNV	P	1 +	8
497205	CACNA1F	c.1537C>T	p.Arg513Ter (p.R513X)	NM_005183.4	SNV	P	1 +	8
866571	CACNA1F	c.2881C>T	p.Arg961Ter (p.R961X)	NM_001256789.3 M	SNV	P	1 +	7
195237	CACNA1F	c.244C>T	p.Arg82Ter (p.R82X)	NM_001256789.3 M	SNV	P	2 +	7
866571	CACNA1F	c.2719C>T	p.Arg907Ter (p.R907X)	NM_001256790.3	SNV	P	1 +	7
866571	CACNA1F	c.2914C>T	p.Arg972Ter (p.R972X)	NM_005183.4	SNV	P	1 +	7
195237	CACNA1F	c.244C>T	p.Arg82Ter (p.R82X)	NM_005183.4	SNV	P	2 +	7
195237	CACNA1F	c.66-17C>T	--	NM_001256790.3	SNV	P	2 +	7
11615	CACNA1F	c.2872C>T	p.Arg958Ter (p.R958X)	NM_001256789.3 M	SNV	P	3 +	6
	CACNA1F	c.2710C>T	p.Arg904Ter (p.R904X)	NM_001256790.3	SNV	P	3 +	6
	CACNA1F	c.2905C>T	p.Arg969Ter (p.R969X)	NM_005183.4	SNV	P	3 +	6
438126	CACNA1F	c.3853C>T	p.Arg1285Cys (p.R1285C)	NM_001256789.3 M	SNV	P	2 +	2
	CACNA1F	c.3691C>T	p.Arg1231Cys (p.R1231C)	NM_001256790.3	SNV	P	2 +	2
	CACNA1F	c.3886C>T	p.Arg1296Cys (p.R1296C)	NM_005183.4	SNV	P	2 +	2
866485	CACNA1F	c.4008+8_4008+13del	--	NM_001256789.3 M	Del	LB	1 +	1
866505	CACNA1F	c.4561C>G	p.Arg1521Gly (p.R1521G)	NM_001256789.3 M	SNV	LP	1 +	1

69 Results, 20 per Page

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