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Gene: CNGA3 & Disease: Cone Dystrophy, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
284032	CNGA3	c.967G>C	p.Ala323Pro (p.A323P)	NM_001298.3 M	SNV	P	3 +	7
284032	CNGA3	c.913G>C	p.Ala305Pro (p.A305P)	NM_001079878.2	SNV	P	3 +	7
959907	CNGA3	c.1520A>G	p.Asp507Gly (p.D507G)	NM_001298.3 M	SNV	LP	1 +	2
438156	CNGA3	c.1405G>A	p.Ala469Thr (p.A469T)	NM_001298.3 M	SNV	P	1 +	2
813042	CNGA3	c.906G>T	p.Arg302Ser (p.R302S)	NM_001298.3 M	SNV	P	1 +	2
959907	CNGA3	c.1466A>G	p.Asp489Gly (p.D489G)	NM_001079878.2	SNV	LP	1 +	2
438156	CNGA3	c.1351G>A	p.Ala451Thr (p.A451T)	NM_001079878.2	SNV	P	1 +	2
813042	CNGA3	c.852G>T	p.Arg284Ser (p.R284S)	NM_001079878.2	SNV	P	1 +	2
813040	CNGA3	c.625T>C	p.Ser209Pro (p.S209P)	NM_001298.3 M	SNV	P	1 +	1
813040	CNGA3	c.571T>C	p.Ser191Pro (p.S191P)	NM_001079878.2	SNV	P	1 +	1

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