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Gene: COG8 & Disease: CDG2H, 833 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
659501	COG8	c.585+1G>T	--	NM_032382.5 M	SNV	LP	1 +	3
	COG8	c.585+1G>T	--	NM_001379266.1	SNV	LP	1 +	3
	COG8	c.585+1G>T	--	NM_001379265.1	SNV	LP	1 +	3
	COG8	c.585+1G>T	--	NM_001379262.1	SNV	LP	1 +	3
	COG8	c.585+1G>T	--	NM_001379264.1	SNV	LP	1 +	3
	COG8	c.585+1G>T	--	NM_001379263.1	SNV	LP	1 +	3
	COG8	c.585+1G>T	--	NM_001379261.1	SNV	LP	1 +	3
	COG8	c.585+1G>T	--	NM_001374871.1	SNV	LP	1 +	3
3649	COG8	c.1687_1688del	p.Phe563fs (p.F563fs)	NM_032382.5 M	Del	P	1 +	2
235232	COG8	c.1591C>T	p.Pro531Ser (p.P531S)	NM_032382.5 M	SNV	LB	1 +	2
235266	COG8	c.1589C>T	p.Pro530Leu (p.P530L)	NM_032382.5 M	SNV	LB	1 +	2
966979	COG8	c.1680_1681del	p.Glu560fs (p.E560fs)	NM_032382.5 M	MS	P	1 +	2
377233	COG8	c.5C>T	p.Ala2Val (p.A2V)	NM_032382.5 M	SNV	VUS	1 +	2
886170	COG8	c.886G>A	p.Glu296Lys (p.E296K)	NM_032382.5 M	SNV	VUS	1 +	2
597493	COG8	c.1373C>T	p.Ala458Val (p.A458V)	NM_032382.5 M	SNV	VUS	1 +	2
597494	COG8	c.1741C>A	p.Pro581Thr (p.P581T)	NM_032382.5 M	SNV	LB	1 +	2
3649	COG8	c.1828_1829del	p.Phe610fs (p.F610fs)	NM_001379261.1	Del	P	1 +	2
	COG8	c.1687_1688del	p.Phe563fs (p.F563fs)	NM_001379262.1	Del	P	1 +	2
	COG8	c.1726_1727del	p.Phe576fs (p.F576fs)	NM_001379263.1	Del	P	1 +	2
	COG8	c.1687_1688del	p.Phe563fs (p.F563fs)	NM_001379264.1	Del	P	1 +	2

833 Results, 20 per Page

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