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Gene: CASK & Disease: Glucosephosphate Dehydrogenase Deficiency, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1438451	CASK	c.2424C>T	p.Tyr808= (p.Y808=)	NM_001367721.1 M	SNV	LB	7 +	2
	CASK	c.2340C>T	p.Tyr780= (p.Y780=)	NM_001126054.3	SNV	LB	7 +	2
	CASK	c.2337C>T	p.Tyr779= (p.Y779=)	NM_001126055.3	SNV	LB	7 +	2
	CASK	c.2406C>T	p.Tyr802= (p.Y802=)	NM_001410745.1	SNV	LB	7 +	2
	CASK	c.2409C>T	p.Tyr803= (p.Y803=)	NM_003688.4	SNV	LB	7 +	2
434588	CASK	c.846C>G	p.Tyr282Ter (p.Y282X)	NM_001367721.1 M	SNV	P	7 +	1
	CASK	c.846C>G	p.Tyr282Ter (p.Y282X)	NM_001126054.3	SNV	P	7 +	1
	CASK	c.846C>G	p.Tyr282Ter (p.Y282X)	NM_001126055.3	SNV	P	7 +	1
	CASK	c.846C>G	p.Tyr282Ter (p.Y282X)	NM_001410745.1	SNV	P	7 +	1
	CASK	c.846C>G	p.Tyr282Ter (p.Y282X)	NM_003688.4	SNV	P	7 +	1

共10个结果, 每页展示20条

1

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