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Gene: CHRNE & Disease: CMS, 221 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
282036	CHRNE	c.103T>C	p.Tyr35His (p.Y35H)	NM_000080.4 M	SNV	P	4 +	8
243032	CHRNE	c.1353dupG	--	NM_000080.4 M	Dup	P	4 +	7
243032	CHRNE	c.1353dup	p.Asn452fs (p.N452fs)	NM_000080.4 M	Dup	P	4 +	7
243030	CHRNE	c.130dup	p.Glu44fs (p.E44fs)	NM_000080.4 M	Dup	P	5 +	6
243030	CHRNE	c.130dupG	--	NM_000080.4 M	Dup	P	5 +	6
1526117	CHRNE	c.452_454del	p.Glu151Del (p.E151del)	NM_000080.4 M	Del	P	2 +	4
863073	CHRNE	c.803-2A>G	--	NM_000080.4 M	SNV	P	2 +	4
429303	CHRNE	c.183_187dup	p.Leu63fs (p.L63fs)	NM_000080.4 M	Dup	P	2 +	4
429303	CHRNE	c.183_187dupCTCAC	--	NM_000080.4 M	Dup	P	2 +	4
128768	CHRNE	c.53G>T	p.Gly18Val (p.G18V)	NM_000080.4 M	SNV	LB	2 +	4
18348	CHRNE	c.971del	p.Ile324fs (p.I324fs)	NM_000080.4 M	Del	P	4 +	4
18348	CHRNE	c.971delT	--	NM_000080.4 M	Del	P	4 +	4
641946	CHRNE	c.992G>A	p.Arg331Gln (p.R331Q)	NM_000080.4 M	SNV	P	3 +	3
254904	CHRNE	c.966C>T	p.Cys322= (p.C322=)	NM_000080.4 M	SNV	B	2 +	3
965708	CHRNE	c.16C>T	p.Leu6Phe (p.L6F)	NM_000080.4 M	SNV	VUS	2 +	3
128763	CHRNE	c.1305A>G	p.Arg435= (p.R435=)	NM_000080.4 M	SNV	B	2 +	3
128762	CHRNE	c.1293C>T	p.Ala431= (p.A431=)	NM_000080.4 M	SNV	B	4 +	3
128765	CHRNE	c.345-7C>T	--	NM_000080.4 M	SNV	B	2 +	3
128766	CHRNE	c.45C>T	p.Leu15= (p.L15=)	NM_000080.4 M	SNV	LB	2 +	3
18357	CHRNE	c.614_620del	p.Trp205fs (p.W205fs)	NM_000080.4 M	Del	P	4 +	3

221 Results, 20 per Page

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