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Gene: CNGB3 & Disease: CORD2, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5225	CNGB3	c.1148del	p.Thr383fs (p.T383fs)	NM_019098.5 M	Del	P	8 +	19
143154	CNGB3	c.1208G>A	p.Arg403Gln (p.R403Q)	NM_019098.5 M	SNV	P	8 +	9
188780	CNGB3	c.644-1G>C	--	NM_019098.5 M	SNV	P	6 +	4
554831	CNGB3	c.1672G>T	p.Gly558Cys (p.G558C)	NM_019098.5 M	SNV	VUS	4 +	4

共4个结果, 每页展示20条

1

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