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Gene: AKAP3 & Disease: SPGF82, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2500166	AKAP3	c.44G>A	p.Cys15Tyr (p.C15Y)	NM_001278309.2 M	SNV	P	1 +	1
2500165	AKAP3	c.2286_2287del	p.His762fs (p.H762fs)	NM_001278309.2 M	MS	P	1 +	1
2500165	AKAP3	c.2286_2287delCA	--	NM_001278309.2 M	MS	P	1 +	1
2500166	AKAP3	c.44G>A	p.Cys15Tyr (p.C15Y)	NM_006422.4	SNV	P	1 +	1
2500165	AKAP3	c.2286_2287del	p.His762fs (p.H762fs)	NM_006422.4	MS	P	1 +	1

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