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Gene: COPB1 & Disease: BARMACS, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2441767	COPB1	c.-57-2A>G	--	NM_001144061.2 M	SNV	LP	1 +	1
996016	COPB1	c.957+1G>T	--	NM_001144061.2 M	SNV	P	3 +	1
996037	COPB1	c.1651T>G	p.Phe551Val (p.F551V)	NM_001144061.2 M	SNV	P	4 +	1
2382569	COPB1	c.1230T>G	p.Ser410Arg (p.S410R)	NM_001144061.2 M	SNV	VUS	1 +	1
2582497	COPB1	c.2365G>A	p.Val789Ile (p.V789I)	NM_001144061.2 M	SNV	VUS	1 +	1
2441767	COPB1	c.-57-2A>G	--	NM_001144062.2	SNV	LP	1 +	1
2441767	COPB1	c.-57-2A>G	--	NM_016451.5	SNV	LP	1 +	1
996016	COPB1	c.957+1G>T	--	NM_001144062.2	SNV	P	3 +	1
996016	COPB1	c.957+1G>T	--	NM_016451.5	SNV	P	3 +	1
996037	COPB1	c.1651T>G	p.Phe551Val (p.F551V)	NM_001144062.2	SNV	P	4 +	1
996037	COPB1	c.1651T>G	p.Phe551Val (p.F551V)	NM_016451.5	SNV	P	4 +	1
2382569	COPB1	c.1230T>G	p.Ser410Arg (p.S410R)	NM_001144062.2	SNV	VUS	1 +	1
2382569	COPB1	c.1230T>G	p.Ser410Arg (p.S410R)	NM_016451.5	SNV	VUS	1 +	1
2582497	COPB1	c.2365G>A	p.Val789Ile (p.V789I)	NM_001144062.2	SNV	VUS	1 +	1
2582497	COPB1	c.2365G>A	p.Val789Ile (p.V789I)	NM_016451.5	SNV	VUS	1 +	1

15 Results, 20 per Page

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