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Gene: EVC & Disease: SRTD6, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5338	EVC	c.1886+5G>T	--	NM_153717.3 M	SNV	P	3 +	10
5338	EVC	c.1886+5G>T	--	NM_001306090.2	SNV	P	3 +	10
5340	EVC	c.1018C>T	p.Arg340Ter (p.R340X)	NM_153717.3 M	SNV	P	3 +	4
	EVC	c.1018C>T	p.Arg340Ter (p.R340X)	NM_001306090.2	SNV	P	3 +	4
	EVC	c.1018C>T	p.Arg340Ter (p.R340X)	NM_001306092.2	SNV	P	3 +	4
446661	EVC	c.901AAG[1]	p.Lys302Del (p.K302del)	NM_153717.3 M	MS	P	3 +	3
446661	EVC	c.904_906del	--	NM_153717.3 M	MS	P	3 +	3
446662	EVC	c.363C>A	p.Tyr121Ter (p.Y121X)	NM_153717.3 M	SNV	P	3 +	3
446661	EVC	c.901AAG[1]	p.Lys302Del (p.K302del)	NM_001306090.2	MS	P	3 +	3
446661	EVC	c.901AAG[1]	p.Lys302Del (p.K302del)	NM_001306092.2	MS	P	3 +	3
446662	EVC	c.363C>A	p.Tyr121Ter (p.Y121X)	NM_001306090.2	SNV	P	3 +	3
446662	EVC	c.363C>A	p.Tyr121Ter (p.Y121X)	NM_001306092.2	SNV	P	3 +	3

12 Results, 20 per Page

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