Table 2.
Novel mtDNA variants identified in pediatric patients with mitochondrial disease.
| Sample ID | Position | Reference allele | Alternative allele | Total reads | Allele frequency (%) | heteroplasmy/homoplasmy | Locus |
|---|---|---|---|---|---|---|---|
| M52 | 1129 | T | C | 5069 | 18.94 | Heteroplasmy | MT-RNR1 |
| T | 81.06 | ||||||
| M132 | 13997 | A | A | 1680 | 48.05 | Heteroplasmy | MT-ND5 |
| G | 51.95 |
Heteroplasmic positions are shown in red. These novel variants have been registered in EMPOP (THE EUROPEAN DNA PROFILING GROUP = EDNAP mitochondrial DNA population database) (https://empop.online/) (Dataset EMP00730).