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Gene: NDUFA2 & Disease: MC1DN13, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
214711	NDUFA2	c.134A>C	p.Lys45Thr (p.K45T)	NM_002488.5 M	SNV	P	1 +	2
214711	NDUFA2	c.134A>C	p.Lys45Thr (p.K45T)	NM_001185012.2	SNV	P	1 +	2
978071	NDUFA2	c.170A>C	p.Glu57Ala (p.E57A)	NM_002488.5 M	SNV	P	1 +	1
2434083	NDUFA2	c.199G>T	p.Ala67Ser (p.A67S)	NM_002488.5 M	SNV	VUS	1 +	1
214712	NDUFA2	c.225del	p.Asn76fs (p.N76fs)	NM_002488.5 M	Del	P	1 +	1
7515	NDUFA2	c.208+5G>A	--	NM_002488.5 M	SNV	P	1 +	1
978071	NDUFA2	c.170A>C	p.Glu57Ala (p.E57A)	NM_001185012.2	SNV	P	1 +	1
2434083	NDUFA2	c.199G>T	p.Ala67Ser (p.A67S)	NM_001185012.2	SNV	VUS	1 +	1
214712	NDUFA2	c.*41del	--	NM_001185012.2	Del	P	1 +	1
7515	NDUFA2	c.208+5G>A	--	NM_001185012.2	SNV	P	1 +	1

共10个结果, 每页展示20条

1

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