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Gene: USP18 & Disease: PTORCH2, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
417774	USP18	c.652C>T	p.Gln218Ter (p.Q218X)	NM_017414.4 M	SNV	P	1 +	2
2386333	USP18	c.907G>A	p.Glu303Lys (p.E303K)	NM_017414.4 M	SNV	VUS	1 +	1
810842	USP18	c.1073+1G>A	--	NM_017414.4 M	SNV	P	1 +	1
2506027	USP18	c.891+1G>T	--	NM_017414.4 M	SNV	LP	1 +	0

4 Results, 20 per Page

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