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Gene: ACAD9 & Disease: MC1DN20, 177 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
242461	ACAD9	c.1552C>T	p.Arg518Cys (p.R518C)	NM_014049.5 M	SNV	P	2 +	7
242524	ACAD9	c.359del	p.Phe120fs (p.F120fs)	NM_014049.5 M	Del	P	2 +	7
242524	ACAD9	c.359delT	--	NM_014049.5 M	Del	P	2 +	7
30883	ACAD9	c.976G>C	p.Ala326Pro (p.A326P)	NM_014049.5 M	SNV	P	2 +	6
858760	ACAD9	c.1553G>A	p.Arg518His (p.R518H)	NM_014049.5 M	SNV	P	1 +	5
30884	ACAD9	c.1594C>T	p.Arg532Trp (p.R532W)	NM_014049.5 M	SNV	P	2 +	5
242463	ACAD9	c.1237G>A	p.Glu413Lys (p.E413K)	NM_014049.5 M	SNV	P	2 +	5
30882	ACAD9	c.797G>A	p.Arg266Gln (p.R266Q)	NM_014049.5 M	SNV	P	1 +	5
242466	ACAD9	c.796C>T	p.Arg266Trp (p.R266W)	NM_014049.5 M	SNV	P	2 +	5
242460	ACAD9	c.1564-6_1569del	--	NM_014049.5 M	Del	P	1 +	4
214007	ACAD9	c.1405C>T	p.Arg469Trp (p.R469W)	NM_014049.5 M	SNV	LP	1 +	4
30880	ACAD9	c.1249C>T	p.Arg417Cys (p.R417C)	NM_014049.5 M	SNV	P	2 +	4
420048	ACAD9	c.1240C>T	p.Arg414Cys (p.R414C)	NM_014049.5 M	SNV	P	1 +	4
1479693	ACAD9	c.1674_1692+34del	--	NM_014049.5 M	Del	LP	2 +	3
242464	ACAD9	c.1030-1G>T	--	NM_014049.5 M	SNV	P	1 +	3
1018	ACAD9	c.-44_-41dup	--	NM_014049.5 M	Dup	P	1 +	3
1018	ACAD9	c.-44_-41dupTAAG	--	NM_014049.5 M	Dup	P	1 +	3
242464	ACAD9	c.661-1G>T	--	NM_001410805.1	SNV	P	1 +	3
2500741	ACAD9	c.1169C>T	p.Ala390Val (p.A390V)	NM_014049.5 M	SNV	LP	1 +	2
242523	ACAD9	c.1846C>T	p.Pro616Ser (p.P616S)	NM_014049.5 M	SNV	P	1 +	2

177 Results, 20 per Page

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