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Gene: GFPT1 & Disease: CMS4C, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
540353	GFPT1	c.686-2A>G	--	NM_001244710.2 M	SNV	P	2 +	5
540353	GFPT1	c.685+175A>G	--	NM_002056.4	SNV	P	2 +	5
1358415	GFPT1	c.1878A>G	p.Gln626= (p.Q626=)	NM_001244710.2 M	SNV	LB	2 +	0
381940	GFPT1	c.41G>A	p.Arg14Gln (p.R14Q)	NM_001244710.2 M	SNV	P	1 +	0
1358415	GFPT1	c.1824A>G	p.Gln608= (p.Q608=)	NM_002056.4	SNV	LB	2 +	0
381940	GFPT1	c.41G>A	p.Arg14Gln (p.R14Q)	NM_002056.4	SNV	P	1 +	0

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