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Gene: ATP5F1A & Disease: COXPD22, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1034338	ATP5F1A	c.295T>C	p.Ser99Pro (p.S99P)	NM_004046.6 M	SNV	VUS	1 +	2
	ATP5F1A	c.145T>C	p.Ser49Pro (p.S49P)	NM_001001935.3	SNV	VUS	1 +	2
	ATP5F1A	c.295T>C	p.Ser99Pro (p.S99P)	NM_001001937.2	SNV	VUS	1 +	2
	ATP5F1A	c.295T>C	p.Ser99Pro (p.S99P)	NM_001257334.2	SNV	VUS	1 +	2
	ATP5F1A	c.145T>C	p.Ser49Pro (p.S49P)	NM_001257335.2	SNV	VUS	1 +	2
156426	ATP5F1A	c.962A>G	p.Tyr321Cys (p.Y321C)	NM_004046.6 M	SNV	P	1 +	1
429464	ATP5F1A	c.1176+1G>C	--	NM_004046.6 M	SNV	LP	1 +	1
156426	ATP5F1A	c.812A>G	p.Tyr271Cys (p.Y271C)	NM_001001935.3	SNV	P	1 +	1
	ATP5F1A	c.962A>G	p.Tyr321Cys (p.Y321C)	NM_001001937.2	SNV	P	1 +	1
	ATP5F1A	c.896A>G	p.Tyr299Cys (p.Y299C)	NM_001257334.2	SNV	P	1 +	1
	ATP5F1A	c.812A>G	p.Tyr271Cys (p.Y271C)	NM_001257335.2	SNV	P	1 +	1
429464	ATP5F1A	c.1176+1G>C	--	NM_001001937.2	SNV	LP	1 +	1
	ATP5F1A	c.1110+1G>C	--	NM_001257334.2	SNV	LP	1 +	1
	ATP5F1A	c.1026+1G>C	--	NM_001001935.3	SNV	LP	1 +	1
	ATP5F1A	c.1026+1G>C	--	NM_001257335.2	SNV	LP	1 +	1

15 Results, 20 per Page

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