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Human DNA Polymerase Gamma Mutation Database

All inquiries, additions to the list, and comments should be made to Bill Copeland.

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Amino Acid Substitution: R546C cDNA Position: 1636 c→t (exon 9)
Disease	Genetics	Frequency	Reference
Neutral polymorphism		1.1% of 450 individuals	(GeneSNPs, 2004) PubMed
	Heterozygous with R628Q in one breast tumor		(Singh et al, 2009) PubMed
	Reference # rs2307447		PubMed

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