Mutation Direct

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Gene: COG1 & Disease: CDG2G, 300 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2420783	COG1	c.560G>A	p.Arg187Gln (p.R187Q)	NM_018714.3 M	SNV	VUS	1 +	2
376890	COG1	c.153G>A	p.Met51Ile (p.M51I)	NM_018714.3 M	SNV	VUS	1 +	2
376973	COG1	c.529A>G	p.Ile177Val (p.I177V)	NM_018714.3 M	SNV	LB	1 +	2
1415427	COG1	c.2074-3C>G	--	NM_018714.3 M	SNV	VUS	1 +	2
1489523	COG1	c.2729+3_2729+9del	--	NM_018714.3 M	Del	VUS	1 +	2
803463	COG1	c.2665dup	p.Arg889fs (p.R889fs)	NM_018714.3 M	Dup	P	1 +	2
1413879	COG1	c.164G>C	p.Arg55Pro (p.R55P)	NM_018714.3 M	SNV	VUS	1 +	2
252724	COG1	c.1712G>A	p.Arg571Gln (p.R571Q)	NM_018714.3 M	SNV	LB	1 +	2
889657	COG1	c.1243G>C	p.Glu415Gln (p.E415Q)	NM_018714.3 M	SNV	VUS	1 +	2
2098246	COG1	c.561-1G>A	--	NM_018714.3 M	SNV	VUS	1 +	2
445765	COG1	c.2836G>A	p.Asp946Asn (p.D946N)	NM_018714.3 M	SNV	VUS	1 +	2
324969	COG1	c.1282-3T>C	--	NM_018714.3 M	SNV	LB	1 +	2
324974	COG1	c.2620-10T>G	--	NM_018714.3 M	SNV	LB	1 +	2
324975	COG1	c.2666G>A	p.Arg889Gln (p.R889Q)	NM_018714.3 M	SNV	VUS	1 +	2
1412627	COG1	c.2382+4G>A	--	NM_018714.3 M	SNV	VUS	1 +	2
3655	COG1	c.1070+5G>A	--	NM_018714.3 M	SNV	P	2 +	2
1400477	COG1	c.1070+3A>G	--	NM_018714.3 M	SNV	VUS	1 +	2
95910	COG1	c.1049C>T	p.Thr350Met (p.T350M)	NM_018714.3 M	SNV	LB	1 +	2
95911	COG1	c.1175A>G	p.Asn392Ser (p.N392S)	NM_018714.3 M	SNV	B	1 +	2
95914	COG1	c.1782G>A	p.Glu594= (p.E594=)	NM_018714.3 M	SNV	B	1 +	2

300 Results, 20 per Page

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