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Mutation Direct

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Gene: NOG & Disease: SYNS1, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6693	NOG	c.649T>G	p.Trp217Gly (p.W217G)	NM_005450.6 M	SNV	P	2 +	2
30290	NOG	c.696C>G	p.Cys232Trp (p.C232W)	NM_005450.6 M	SNV	P	2 +	2
6701	NOG	c.58del	p.Leu20fs (p.L20fs)	NM_005450.6 M	Del	P	2 +	2
6706	NOG	c.614G>A	p.Trp205Ter (p.W205X)	NM_005450.6 M	SNV	P	2 +	1
6707	NOG	c.615G>C	p.Trp205Cys (p.W205C)	NM_005450.6 M	SNV	P	2 +	1
827845	NOG	c.64dup	p.Ala22fs (p.A22fs)	NM_005450.6 M	Dup	P	2 +	1
375295	NOG	c.611G>A	p.Arg204Gln (p.R204Q)	NM_005450.6 M	SNV	LP	5 +	1

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