Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: EDNRA & Disease: MFDA, 25 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
190324	EDNRA	c.907G>A	p.Glu303Lys (p.E303K)	NM_001957.4 M	SNV	P	1 +	2
190323	EDNRA	c.386A>T	p.Tyr129Phe (p.Y129F)	NM_001957.4 M	SNV	P	1 +	2
190324	EDNRA	c.580G>A	p.Glu194Lys (p.E194K)	NM_001166055.2	SNV	P	1 +	2
190323	EDNRA	c.386A>T	p.Tyr129Phe (p.Y129F)	NM_001166055.2	SNV	P	1 +	2
190323	EDNRA	c.386A>T	p.Tyr129Phe (p.Y129F)	NM_001354797.2	SNV	P	1 +	2
711201	EDNRA	c.1146A>G	p.Ser382= (p.S382=)	NM_001957.4 M	SNV	LB	2 +	0
723006	EDNRA	c.549-10T>C	--	NM_001957.4 M	SNV	LB	2 +	0
1255371	EDNRA	c.1005G>A	p.Glu335= (p.E335=)	NM_001957.4 M	SNV	B	1 +	0
721740	EDNRA	c.354G>A	p.Leu118= (p.L118=)	NM_001957.4 M	SNV	LB	2 +	0
745811	EDNRA	c.1110T>C	p.Tyr370= (p.Y370=)	NM_001957.4 M	SNV	LB	2 +	0
1654745	EDNRA	c.1034+19G>A	--	NM_001957.4 M	SNV	LB	2 +	0
1256683	EDNRA	c.748-19_748-18insCT	--	NM_001957.4 M	Ins	B	2 +	0
1244028	EDNRA	c.969T>C	p.His323= (p.H323=)	NM_001957.4 M	SNV	B	1 +	0
1166335	EDNRA	c.24A>G	p.Ala8= (p.A8=)	NM_001957.4 M	SNV	LB	2 +	0
711201	EDNRA	c.819A>G	p.Ser273= (p.S273=)	NM_001166055.2	SNV	LB	2 +	0
723006	EDNRA	c.421-3381T>C	--	NM_001166055.2	SNV	LB	2 +	0
1255371	EDNRA	c.678G>A	p.Glu226= (p.E226=)	NM_001166055.2	SNV	B	1 +	0
721740	EDNRA	c.354G>A	p.Leu118= (p.L118=)	NM_001166055.2	SNV	LB	2 +	0
721740	EDNRA	c.354G>A	p.Leu118= (p.L118=)	NM_001354797.2	SNV	LB	2 +	0
745811	EDNRA	c.783T>C	p.Tyr261= (p.Y261=)	NM_001166055.2	SNV	LB	2 +	0

25 Results, 20 per Page

Comparison