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Gene: PET100 & Disease: MC4DN12, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1686017	PET100	c.1A>G	p.Met1Val (p.M1V)	NM_001171155.2 M	SNV	P	1 +	3
125441	PET100	c.3G>C	p.Met1Ile (p.M1I)	NM_001171155.2 M	SNV	P	2 +	3
1436166	PET100	c.138+3A>T	--	NM_001171155.2 M	SNV	VUS	1 +	2
517815	PET100	c.139-11_139-9del	--	NM_001171155.2 M	Del	LB	1 +	2
1368798	PET100	c.184GAG[1]	p.Glu63Del (p.E63del)	NM_001171155.2 M	MS	VUS	1 +	2
1368798	PET100	c.187_189del	--	NM_001171155.2 M	MS	VUS	1 +	2
128250	PET100	c.142C>T	p.Gln48Ter (p.Q48X)	NM_001171155.2 M	SNV	P	2 +	1
1695740	PET100	c.200G>A	p.Arg67His (p.R67H)	NM_001171155.2 M	SNV	VUS	1 +	1

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