Table 3 Common mutations in the three tissue sample types (Tbx, To, No tissues).
| Â | Position | Ref | Alt | Gene name | AF (average) | Number of patients in Osaka Univ | ||
|---|---|---|---|---|---|---|---|---|
No | Tbx | To | ||||||
Homoplasmic | 190 | - | A | D-loop | 99.5 | 99.2 | 99.5 | 2 |
248 | A | - | D-loop | 99.7 | 99.9 | 99.7 | 1 | |
286 | A | G | D-loop | 99.8 | 99.4 | 100.0 | 1 | |
316 | G | A | D-loop | 100.0 | 99.5 | 99.3 | 1 | |
1107 | T | C | MT-RNR1 | 99.3 | 99.3 | 99.1 | 1 | |
1585 | A | G | MT-RNR1 | 99.7 | 99.9 | 99.7 | 1 | |
2150 | - | A | MT-RNR2 | 99.5 | 99.4 | 99.3 | 1 | |
3167 | - | C | MT-RNR2 | 99.1 | 99.6 | 98.9 | 1 | |
4356 | C | T | MT-TQ | 99.7 | 99.5 | 99.2 | 1 | |
5424 | C | T | MT-ND2 | 99.9 | 99.8 | 99.7 | 1 | |
5489 | C | T | MT-ND2 | 99.3 | 99.7 | 99.5 | 1 | |
7172 | A | G | MT-CO1 | 99.3 | 97.9 | 99.1 | 1 | |
10,397 | AA | GG | MT-ND3 | 99.9 | 99.6 | 99.0 | 1 | |
13,365 | C | T | MT-ND5 | 99.7 | 99.6 | 99.4 | 1 | |
14,440 | A | G | MT-ND6 | 99.9 | 99.8 | 99.5 | 1 | |
15,850 | TA | CG | MT-CYB | 99.5 | 99.1 | 99.4 | 1 | |
16,297 | TT | CC | D-loop | 99.8 | 99.6 | 99.6 | 1 | |
Heteroplasmic | 66 | G | - | D-loop | 3.0 | 30.2 | 2.6 | 1 |
191 | A | G | D-loop | 72.8 | 82.4 | 34.3 | 1 | |
316 | G | C | D-loop | 2.8 | 3.0 | 2.9 | 13 | |
961 | T | - | MT-RNR1 | 7.0 | 8.5 | 8.2 | 1 | |
7191 | T | C | MT-CO1 | 17.2 | 11.4 | 23.8 | 2 | |
8462 | T | C | MT-ATP8 | 22.5 | 11.7 | 6.7 | 1 | |
12,208 | A | G | MT-TS2 | 6.4 | 22.5 | 4.2 | 1 | |
15,955 | A | G | D-loop | 3.7 | 1.6 | 3.2 | 1 | |
