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Mutation Direct

Effortless mutation search and display tool

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Gene: ACTL6A & Disease: Umbilical Hernia, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
549661	ACTL6A	c.1129C>T	p.Arg377Trp (p.R377W)	NM_004301.5 M	SNV	P	7 +	3
	ACTL6A	c.1003C>T	p.Arg335Trp (p.R335W)	NM_177989.4	SNV	P	7 +	3
	ACTL6A	c.1003C>T	p.Arg335Trp (p.R335W)	NM_178042.4	SNV	P	7 +	3

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