From: Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0
mtDNA Gene Location | Nucleotide Position | Ref | MitoChip call | Nucleotide change | Comment | |
---|---|---|---|---|---|---|
 |  |  | mtDNA7 | MitoChip GSEQ | Conventional sequencing |  |
D-loop | 146 | T | N | T > N | T > C | N = point mutation (1) |
D-loop | 315 | C | C | C | insC | Insertion (1) |
D-loop | 464 | A | N | A > N | A > C | N = New point mutation (1) |
D-loop | 523-524 | AC | AC | AC | delAC | Deletion (1) |
16S rRNA | 1814 | A | R | A > G | - | Heteroplasmic mutation (2) |
16S rRNA | 3107 | C | - | delC | delC | Deletion |
MTND2 | 5264 | C | T | C > T | C > T | New |
MTND4 | 11466 | T | K | T > G | - | Heteroplasmic mutation (2) |
MTTL2 | 12307 | A | R | A > G | - | Heteroplasmic mutation (2) |
MTTL2 | 12309 | A | R | A > G | - | Heteroplasmic mutation (2) |
MTND5 | 13037 | C | M | C > A | - | Heteroplasmic mutation (2) |
MTTT | 15944 | T | Y | T > C | delT | Deletion (3) |
MTTP | 15977 | C | T | C > T | C > T | New |
D-loop | 16189 | T | N | T > N | T > C | N = point mutation (1) |
D-loop | 16192 | C | C | C | insC | Insertion (1) |
D-loop | 16193 | C | C | C | delC | Deletion (1) |
D-loop | 16343 | A | N | A > N | A > G | N = point mutation (1) |