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Gene: ATP1A3 & Disease: DYT12, 2257 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
37107	ATP1A3	c.2401G>A	p.Asp801Asn (p.D801N)	NM_152296.5 M	SNV	P	6 +	17
161134	ATP1A3	c.2267G>A	p.Arg756His (p.R756H)	NM_152296.5 M	SNV	P	4 +	17
37107	ATP1A3	c.2434G>A	p.Asp812Asn (p.D812N)	NM_001256213.2	SNV	P	6 +	17
37107	ATP1A3	c.2440G>A	p.Asp814Asn (p.D814N)	NM_001256214.2	SNV	P	6 +	17
161134	ATP1A3	c.2300G>A	p.Arg767His (p.R767H)	NM_001256213.2	SNV	P	4 +	17
161134	ATP1A3	c.2306G>A	p.Arg769His (p.R769H)	NM_001256214.2	SNV	P	4 +	17
37108	ATP1A3	c.2443G>A	p.Glu815Lys (p.E815K)	NM_152296.5 M	SNV	P	7 +	13
37110	ATP1A3	c.2839G>A	p.Gly947Arg (p.G947R)	NM_152296.5 M	SNV	P	5 +	13
37108	ATP1A3	c.2476G>A	p.Glu826Lys (p.E826K)	NM_001256213.2	SNV	P	7 +	13
37108	ATP1A3	c.2482G>A	p.Glu828Lys (p.E828K)	NM_001256214.2	SNV	P	7 +	13
37110	ATP1A3	c.2872G>A	p.Gly958Arg (p.G958R)	NM_001256213.2	SNV	P	5 +	13
37110	ATP1A3	c.2878G>A	p.Gly960Arg (p.G960R)	NM_001256214.2	SNV	P	5 +	13
12909	ATP1A3	c.1838C>T	p.Thr613Met (p.T613M)	NM_152296.5 M	SNV	P	2 +	11
12915	ATP1A3	c.2767G>A	p.Asp923Asn (p.D923N)	NM_152296.5 M	SNV	P	3 +	11
425189	ATP1A3	c.2266C>T	p.Arg756Cys (p.R756C)	NM_152296.5 M	SNV	P	3 +	11
12909	ATP1A3	c.1871C>T	p.Thr624Met (p.T624M)	NM_001256213.2	SNV	P	2 +	11
12909	ATP1A3	c.1877C>T	p.Thr626Met (p.T626M)	NM_001256214.2	SNV	P	2 +	11
12915	ATP1A3	c.2800G>A	p.Asp934Asn (p.D934N)	NM_001256213.2	SNV	P	3 +	11
12915	ATP1A3	c.2806G>A	p.Asp936Asn (p.D936N)	NM_001256214.2	SNV	P	3 +	11
425189	ATP1A3	c.2299C>T	p.Arg767Cys (p.R767C)	NM_001256213.2	SNV	P	3 +	11

共2257个结果, 每页展示20条

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Comparison