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Gene: DPH2 & Disease: Diphthamide Deficiency Syndrome, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1687066	DPH2	c.1429C>T	p.Arg477Ter (p.R477X)	NM_001384.5 M	SNV	P	2 +	2
	DPH2	c.745C>T	p.Arg249Ter (p.R249X)	NM_001039589.2	SNV	P	2 +	2
	DPH2	c.1201C>T	p.Arg401Ter (p.R401X)	NM_001319165.2	SNV	P	2 +	2
	DPH2	c.1156C>T	p.Arg386Ter (p.R386X)	NM_001319166.2	SNV	P	2 +	2
	DPH2	c.850C>T	p.Arg284Ter (p.R284X)	NM_001319167.2	SNV	P	2 +	2
	DPH2	c.1201C>T	p.Arg401Ter (p.R401X)	NM_001319168.2	SNV	P	2 +	2
	DPH2	c.1024C>T	p.Arg342Ter (p.R342X)	NM_001319169.2	SNV	P	2 +	2
	DPH2	c.850C>T	p.Arg284Ter (p.R284X)	NM_001319170.2	SNV	P	2 +	2
	DPH2	c.985C>T	p.Arg329Ter (p.R329X)	NM_001319171.2	SNV	P	2 +	2

共9个结果, 每页展示20条

1

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