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Gene: SLC25A1 & Disease: CMS23, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
590940	SLC25A1	c.740G>A	p.Arg247Gln (p.R247Q)	NM_005984.5 M	SNV	P	1 +	3
	SLC25A1	c.761G>A	p.Arg254Gln (p.R254Q)	NM_001256534.2	SNV	P	1 +	3
	SLC25A1	c.431G>A	p.Arg144Gln (p.R144Q)	NM_001287387.2	SNV	P	1 +	3
988807	SLC25A1	c.205G>T	p.Asp69Tyr (p.D69Y)	NM_005984.5 M	SNV	P	1 +	1
	SLC25A1	c.226G>T	p.Asp76Tyr (p.D76Y)	NM_001256534.2	SNV	P	1 +	1
	SLC25A1	c.-105G>T	--	NM_001287387.2	SNV	P	1 +	1

共6个结果, 每页展示20条

1

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