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Gene: PPT1 & Disease: CORD2, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
188857	PPT1	c.541G>A	p.Val181Met (p.V181M)	NM_000310.4 M	SNV	P	3 +	15
	PPT1	c.232G>A	p.Val78Met (p.V78M)	NM_001142604.2	SNV	P	3 +	15
	PPT1	c.541G>A	p.Val181Met (p.V181M)	NM_001363695.2	SNV	P	3 +	15
8900	PPT1	c.223A>C	p.Thr75Pro (p.T75P)	NM_000310.4 M	SNV	P	3 +	8
	PPT1	c.223A>C	p.Thr75Pro (p.T75P)	NM_001363695.2	SNV	P	3 +	8
	PPT1	c.125-2897A>C	--	NM_001142604.2	SNV	P	3 +	8

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