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Gene: PDE6C & Disease: COD4, 111 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8766	PDE6C	c.2367+1_2367+5del	--	NM_006204.4 M	Del	P	1 +	6
191009	PDE6C	c.712C>T	p.Arg238Ter (p.R238X)	NM_006204.4 M	SNV	P	1 +	5
2136920	PDE6C	c.1004+1G>A	--	NM_006204.4 M	SNV	LP	1 +	5
8765	PDE6C	c.256_257dup	p.Leu87fs (p.L87fs)	NM_006204.4 M	MS	P	1 +	5
487691	PDE6C	c.775C>T	p.Arg259Ter (p.R259X)	NM_006204.4 M	SNV	P	2 +	4
802622	PDE6C	c.2192G>A	p.Trp731Ter (p.W731X)	NM_006204.4 M	SNV	P	1 +	4
8763	PDE6C	c.85C>T	p.Arg29Trp (p.R29W)	NM_006204.4 M	SNV	P	1 +	3
301615	PDE6C	c.101G>A	p.Gly34Glu (p.G34E)	NM_006204.4 M	SNV	VUS	2 +	2
301626	PDE6C	c.939+4C>T	--	NM_006204.4 M	SNV	VUS	2 +	2
301635	PDE6C	c.1935+4C>T	--	NM_006204.4 M	SNV	VUS	2 +	2
95347	PDE6C	c.282C>T	p.Asp94= (p.D94=)	NM_006204.4 M	SNV	B	2 +	2
95346	PDE6C	c.252G>A	p.Leu84= (p.L84=)	NM_006204.4 M	SNV	B	2 +	2
259938	PDE6C	c.1098G>A	p.Ala366= (p.A366=)	NM_006204.4 M	SNV	B	2 +	2
259940	PDE6C	c.1270-7A>G	--	NM_006204.4 M	SNV	B	2 +	2
259941	PDE6C	c.1270-9C>T	--	NM_006204.4 M	SNV	B	2 +	2
259942	PDE6C	c.1380C>G	p.Thr460= (p.T460=)	NM_006204.4 M	SNV	B	2 +	2
259943	PDE6C	c.1935+10C>A	--	NM_006204.4 M	SNV	B	2 +	2
259946	PDE6C	c.2503G>A	p.Gly835Arg (p.G835R)	NM_006204.4 M	SNV	LB	2 +	2
259947	PDE6C	c.808T>A	p.Ser270Thr (p.S270T)	NM_006204.4 M	SNV	B	2 +	2
259944	PDE6C	c.203C>T	p.Thr68Ile (p.T68I)	NM_006204.4 M	SNV	LB	2 +	2

111 Results, 20 per Page

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