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Mutation Direct

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Gene: ABCC9 & Disease: HEDS, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
31946	ABCC9	c.3460C>T	p.Arg1154Trp (p.R1154W)	NM_020297.4 M	SNV	P	6 +	6
	ABCC9	c.3460C>T	p.Arg1154Trp (p.R1154W)	NM_001377273.1	SNV	P	6 +	6
	ABCC9	c.2593C>T	p.Arg865Trp (p.R865W)	NM_001377274.1	SNV	P	6 +	6
	ABCC9	c.3460C>T	p.Arg1154Trp (p.R1154W)	NM_005691.4	SNV	P	6 +	6

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