Table 6. Top 23 heteroplasmy SNPs: ‘Hot-spots’.
| Frequency | Frequency | Frequency | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Subject 1 | Subject 2 | Subject 3 | |||||||||
| SNP Change | Blood | [RPE+choroid] | Retina | SNP Change | Blood | [RPE+choroid] | Retina | SNP Change | Blood | [RPE+choroid] | Retina |
| 1120C>T | 1.67% | none | none | 1120C>T | 3.23% | none | 1.24% | 1120C>T | 8.92% | 1.40% | none |
| 1284T>C | 1.90% | none | none | 1284T>C | 2.73% | none | 1.16% | 1284T>C | 8.20% | none | none |
| 1556C>T | 2.14% | none | none | 1556C>T | 3.68% | none | 1.38% | 1556C>T | 10.52% | 1.69% | none |
| 2523C>T | 1.74% | 1.29% | 1.35% | 2523C>T | 2.84% | none | 1.22% | 2523C>T | 6.82% | none | none |
| 4048G>A | 1.37% | none | none | 4048G>A | 2.28% | none | none | 4048G>A | 9.17% | 1.33% | none |
| 4104A>G | 1.37% | none | none | 4104A>G | 2.28% | none | none | 4104A>G | 9.44% | 1.44% | none |
| 4556C>T | none | none | none | 4556C>T | 2.11% | none | none | 4556C>T | 12.22% | 1.84% | none |
| 5320C>T | none | none | none | 5320C>T | 2.13% | none | none | 5320C>T | 9.85% | 1.19% | none |
| 5471G>A | none | none | none | 5471G>A | 2.50% | none | none | 5471G>A | 11.74% | 1.47% | none |
| 5474A>G | none | none | none | 5474A>G | 2.45% | none | none | 5474A>G | 11.74% | 1.47% | none |
| 5498A>G | none | none | none | 5498A>G | 2.49% | none | none | 5498A>G | 11.73% | 1.40% | none |
| 5840C>T | 1.34% | none | none | 5840C>T | 2.49% | none | none | 5840C>T | 10.62% | 1.32% | none |
| 6023G>A | 1.16% | none | none | 6023G>A | 2.23% | none | none | 6023G>A | 10.22% | 1.22% | none |
| 7146A>G | 1.40% | none | none | 7146A>G | none | none | none | 7146A>G | 11.46% | 1.37% | none |
| 7256C>T | none | none | 1.26% | 7256C>T | 3.78% | none | 1.40% | 7256C>T | 13.51% | 1.70% | none |
| 9075C>T | 1.41% | none | none | 9075C>T | 2.29% | none | none | 9075C>T | 10.68% | 1.30% | none |
| 9168C>T | 1.45% | none | none | 9168C>T | none | none | none | 9168C>T | 10.33% | 1.26% | none |
| 9254A>G | 1.33% | none | none | 9254A>G | none | none | none | 9254A>G | 9.71% | 1.28% | none |
| 9629A>G | 2.41% | none | none | 9629A>G | none | none | none | 9629A>G | 9.55% | 1.39% | none |
| 11914G>A | 1.89% | 1.43% | 1.47% | 11914G>A | 1.80% | none | none | 11914G>A | 5.43% | none | none |
| 12705C>T | 99.12% | 99.59% | 99.71% | 12705C>T | 2.26% | none | none | 12705C>T | 10.51% | 1.63% | none |
| 13095T>C | 1.96% | none | none | 13095T>C | 2.38% | none | none | 13095T>C | 9.43% | 1.64% | none |
| 13105A>G | 1.80% | none | none | 13105A>G | 2.32% | none | none | 13105A>G | 9.41% | 1.55% | none |
Heteroplasmy present in all three individuals
Heteroplasmy present in two out of the three individuals