Table 2.

Mutations responsible for mtDNA replication in a small subset of patients (n = 12).

Coordinates	Codons	Protein	Substitution	Region	dbSNP ID	SNP Type	Mutated Sample	Prediction
15,89864181,1,T/C	AGT-gGT	POLG	S933G	EXON CDS	Novel	Nonsynonymous	SMM	DAMAGING
15,89869943,1,C/A	GAG-tAG	POLG	E538X	EXON CDS	rs138413938:A	Nonsynonymous	RRMM	Damaging due to stop
17,62492888,1,C/G	GAG-cAG	POLG2	E67Q	EXON CDS	Novel	Nonsynonymous	RRMM	TOLERATED