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Mutation Direct

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Gene: PCK1 & Disease: PCKDC, 82 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
896030	PCK1	c.64A>G	p.Ser22Gly (p.S22G)	NM_002591.4 M	SNV	VUS	1 +	2
1600211	PCK1	c.611-16G>A	--	NM_002591.4 M	SNV	LB	1 +	2
788182	PCK1	c.7C>T	p.Pro3Ser (p.P3S)	NM_002591.4 M	SNV	LB	1 +	2
789357	PCK1	c.413C>T	p.Thr138Ile (p.T138I)	NM_002591.4 M	SNV	LB	1 +	2
338868	PCK1	c.69A>G	p.Leu23= (p.L23=)	NM_002591.4 M	SNV	B	1 +	2
338875	PCK1	c.453G>A	p.Ser151= (p.S151=)	NM_002591.4 M	SNV	B	1 +	2
338876	PCK1	c.462A>G	p.Ser154= (p.S154=)	NM_002591.4 M	SNV	B	1 +	2
338877	PCK1	c.489A>G	p.Ser163= (p.S163=)	NM_002591.4 M	SNV	B	1 +	2
338879	PCK1	c.550G>C	p.Val184Leu (p.V184L)	NM_002591.4 M	SNV	B	1 +	2
338886	PCK1	c.925G>A	p.Gly309Arg (p.G309R)	NM_002591.4 M	SNV	P	1 +	2
338889	PCK1	c.1140T>C	p.Gly380= (p.G380=)	NM_002591.4 M	SNV	B	1 +	2
338894	PCK1	c.1674C>T	p.Ile558= (p.I558=)	NM_002591.4 M	SNV	LB	1 +	2
440851	PCK1	c.134T>C	p.Ile45Thr (p.I45T)	NM_002591.4 M	SNV	P	1 +	1
807457	PCK1	c.724G>A	p.Gly242Arg (p.G242R)	NM_002591.4 M	SNV	LP	1 +	1
787495	PCK1	c.843G>A	p.Ala281= (p.A281=)	NM_002591.4 M	SNV	LB	1 +	1
931905	PCK1	c.961+1G>A	--	NM_002591.4 M	SNV	P	1 +	1
896100	PCK1	c.903C>T	p.Pro301= (p.P301=)	NM_002591.4 M	SNV	LB	1 +	1
898783	PCK1	c.521C>T	p.Thr174Met (p.T174M)	NM_002591.4 M	SNV	VUS	1 +	1
898782	PCK1	c.474C>T	p.Ile158= (p.I158=)	NM_002591.4 M	SNV	LB	1 +	1
1474811	PCK1	c.1268C>T	p.Pro423Leu (p.P423L)	NM_002591.4 M	SNV	P	1 +	1

82 Results, 20 per Page

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