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Gene: DUS4L & Disease: Cog5-Congenital Disorder of Glycosylation, 44 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
817906	DUS4L	c.-339_-338del	--	NM_181581.3 M	Del	P	2 +	1
817906	DUS4L	c.-189_-188del	--	NM_001270419.2	Del	P	2 +	1
389379	DUS4L	c.-323G>A	--	NM_181581.3 M	SNV	LB	2 +	0
1619364	DUS4L	c.-342C>T	--	NM_181581.3 M	SNV	LB	2 +	0
908846	DUS4L	c.-275C>G	--	NM_181581.3 M	SNV	VUS	2 +	0
908847	DUS4L	c.-186G>A	--	NM_181581.3 M	SNV	VUS	2 +	0
908848	DUS4L	c.-111+78G>C	--	NM_181581.3 M	SNV	LB	2 +	0
911803	DUS4L	c.-332A>T	--	NM_181581.3 M	SNV	VUS	2 +	0
1947462	DUS4L	c.-348C>T	--	NM_181581.3 M	SNV	LB	2 +	0
638408	DUS4L	c.-349_-348insGGCCC	--	NM_181581.3 M	Ins	LP	2 +	0
1983438	DUS4L	c.-347C>T	--	NM_181581.3 M	SNV	VUS	2 +	0
358480	DUS4L	c.-325C>T	--	NM_181581.3 M	SNV	B	2 +	0
358482	DUS4L	c.-275C>T	--	NM_181581.3 M	SNV	VUS	2 +	0
358483	DUS4L	c.-162C>A	--	NM_181581.3 M	SNV	VUS	2 +	0
358485	DUS4L	c.-111+71G>A	--	NM_181581.3 M	SNV	VUS	2 +	0
358487	DUS4L	c.-111+131C>T	--	NM_181581.3 M	SNV	LB	2 +	0
358488	DUS4L	c.-111+147G>C	--	NM_181581.3 M	SNV	VUS	2 +	0
358489	DUS4L	c.-111+167G>C	--	NM_181581.3 M	SNV	LB	2 +	0
358490	DUS4L	c.-110-94C>A	--	NM_181581.3 M	SNV	B	2 +	0
1417312	DUS4L	c.-334C>T	--	NM_181581.3 M	SNV	VUS	2 +	0

共44个结果, 每页展示20条

Comparison