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Mutation Direct

Effortless mutation search and display tool

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Gene: SLC45A2 & Disease: OCA, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
353216	SLC45A2	c.1076_1077del	p.Glu359fs (p.E359fs)	NM_016180.5 M	MS	P	2 +	4
	SLC45A2	c.1076_1077del	p.Glu359fs (p.E359fs)	NM_001012509.4	MS	P	2 +	4
	SLC45A2	c.*16AG[1]	--	NM_001297417.4	MS	P	2 +	4

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