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Gene: NT5E & Disease: CALJA, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
29689	NT5E	c.1608dup	p.Val537fs (p.V537fs)	NM_002526.4 M	Dup	P	1 +	2
29689	NT5E	c.1458dup	p.Val487fs (p.V487fs)	NM_001204813.2	Dup	P	1 +	2
29687	NT5E	c.662C>A	p.Ser221Ter (p.S221X)	NM_002526.4 M	SNV	P	1 +	1
29688	NT5E	c.1073G>A	p.Cys358Tyr (p.C358Y)	NM_002526.4 M	SNV	P	1 +	1
29687	NT5E	c.662C>A	p.Ser221Ter (p.S221X)	NM_001204813.2	SNV	P	1 +	1
29688	NT5E	c.1073G>A	p.Cys358Tyr (p.C358Y)	NM_001204813.2	SNV	P	1 +	1
1175159	NT5E	c.1126A>G	p.Thr376Ala (p.T376A)	NM_002526.4 M	SNV	B	1 +	0
1174653	NT5E	c.1210+12G>C	--	NM_002526.4 M	SNV	B	1 +	0
782948	NT5E	c.832G>A	p.Val278Ile (p.V278I)	NM_002526.4 M	SNV	LB	1 +	0
1175159	NT5E	c.1126A>G	p.Thr376Ala (p.T376A)	NM_001204813.2	SNV	B	1 +	0
1174653	NT5E	c.1210+12G>C	--	NM_001204813.2	SNV	B	1 +	0
782948	NT5E	c.832G>A	p.Val278Ile (p.V278I)	NM_001204813.2	SNV	LB	1 +	0

12 Results, 20 per Page

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