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Gene: ELN & Disease: ADCL1, 1717 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
163391	ELN	c.1150+1G>A	--	NM_000501.4 M	SNV	P	3 +	5
	ELN	c.1165+1G>A	--	NM_001081754.3	SNV	P	3 +	5
	ELN	c.1165+1G>A	--	NM_001081753.3	SNV	P	3 +	5
	ELN	c.1150+1G>A	--	NM_001278939.2	SNV	P	3 +	5
	ELN	c.1150+1G>A	--	NM_001278915.2	SNV	P	3 +	5
	ELN	c.1150+1G>A	--	NM_001278912.2	SNV	P	3 +	5
	ELN	c.1150+1G>A	--	NM_001081755.3	SNV	P	3 +	5
	ELN	c.1108+1G>A	--	NM_001278916.2	SNV	P	3 +	5
	ELN	c.1042+1G>A	--	NM_001278913.2	SNV	P	3 +	5
	ELN	c.1135+1G>A	--	NM_001278914.2	SNV	P	3 +	5
	ELN	c.1120+1G>A	--	NM_001278917.2	SNV	P	3 +	5
	ELN	c.1120+1G>A	--	NM_001081752.3	SNV	P	3 +	5
	ELN	c.1018+1G>A	--	NM_001278918.2	SNV	P	3 +	5
423742	ELN	c.1537G>A	p.Val513Ile (p.V513I)	NM_000501.4 M	SNV	LB	2 +	4
16728	ELN	c.1973del	p.Pro658fs (p.P658fs)	NM_000501.4 M	Del	P	2 +	4
423742	ELN	c.1624G>A	p.Val542Ile (p.V542I)	NM_001278939.2	SNV	LB	2 +	4
	ELN	c.1270G>A	p.Val424Ile (p.V424I)	NM_001278918.2	SNV	LB	2 +	4
	ELN	c.1507G>A	p.Val503Ile (p.V503I)	NM_001278917.2	SNV	LB	2 +	4
	ELN	c.1438G>A	p.Val480Ile (p.V480I)	NM_001278916.2	SNV	LB	2 +	4
	ELN	c.1555G>A	p.Val519Ile (p.V519I)	NM_001278915.2	SNV	LB	2 +	4

1717 Results, 20 per Page

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