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Gene: CNGA3 & Disease: CORD2, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
208567	CNGA3	c.101+1G>A	--	NM_001298.3 M	SNV	P	2 +	2
208567	CNGA3	c.101+1G>A	--	NM_001079878.2	SNV	P	2 +	2
2577506	CNGA3	c.1073G>C	p.Trp358Ser (p.W358S)	NM_001298.3 M	SNV	LP	1 +	1
2577508	CNGA3	c.910G>C	p.Gly304Arg (p.G304R)	NM_001298.3 M	SNV	LP	1 +	1
2577506	CNGA3	c.1019G>C	p.Trp340Ser (p.W340S)	NM_001079878.2	SNV	LP	1 +	1
2577508	CNGA3	c.856G>C	p.Gly286Arg (p.G286R)	NM_001079878.2	SNV	LP	1 +	1
812280	CNGA3	c.1114C>G	p.Pro372Ala (p.P372A)	NM_001298.3 M	SNV	LP	1 +	0
812280	CNGA3	c.1060C>G	p.Pro354Ala (p.P354A)	NM_001079878.2	SNV	LP	1 +	0

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