Table 1.
mtDNA mutations in oncocytic samples
| Sample | Diagnosis | Base change | Amino acid change | Gene | Het., % | % Sequenced | PSIC | Database |
|---|---|---|---|---|---|---|---|---|
| HCT26 | OCA | 3571insC | 101X | ND1 | − | 100 | − | Mitomap |
| HCT16 | OCAp | 3331del242bp | Frameshift | ND1 | 70 | 100 | − | Novel |
| HCT21 | OHTN | 3571insC | 101X | ND1 | 98 | 98.2 | − | Mitomap |
| HCT4 | OHTN | G5185A | W239X | ND2 | − | 98 | − | Novel |
| HCT33 | OCA | G4720A | W84X | ND2 | − | 100 | − | Novel |
| HCT27 | OCA | 11084delCA | 113X | ND4 | − | 100 | − | Novel |
| HCT28 | OCA | 11038delA | 99X | ND4 | − | 100 | − | Mitomap |
| HCT42 | OCA | 10885delT | 61X | ND4 | 35 | 100 | − | Novel |
| HCT38 | OFA | G11403A | W215X | ND4 | − | 100 | − | Novel |
| HCT1 | OHTN | G13414A | G360X | ND5 | 29 | 100 | − | Novel |
| HCT7 | OHTN | A13870T | K512X | ND5 | 25 | 100 | − | Novel |
| HCT29 | OCA | 13235insT | 311X | ND5 | − | 99 | − | Novel |
| HCT1 | OHTN | T13271C | L312P | ND5 | − | 100 | 2.637 | Novel |
| HCT40 | OFA | G13042A | A236T | ND5 | + | 100 | 2.111 | HmtDB |
| HCT23 | OHTN | G10537A | G35E | ND4L | − | 99.2 | 2.213 | Novel |
| HCT25 | OHTN | G12056A | E433K | ND4 | − | 99.5 | 2.101 | Novel |
| HCT36 | OCAp | G11475A | G239D | ND4 | − | 100 | 2.436 | Novel |
| HCT9 | OHTN | T11613C | L285P | ND4 | − | 100 | 2.568 | Novel |
| HCT18 | OCAp | G4975A | G169E | ND2 | − | 100 | 2.696 | Novel |
| HCT28 | OCA | G4831A | G121D | ND2 | − | 100 | 2.514 | Novel |
| HCT37 | OCAp | T3949C | Y215H | ND1 | − | 100 | 2.428 | Mitomap |
| HCT39 | OCA | G3392A | G29D | ND1 | − | 100 | 2.254 | Novel |
| HCT43 | OFA | T4222C | S306P | ND1 | − | 100 | 2.020 | Novel |
| HCT44 | OFA | T12797C | L154P | ND5 | − | 100 | 2.932 | Novel |
| A8836G | M104V | ATP6 | − | 2.376 | Mitomap | |||
| HCT30 | OFA | T15209C | Y155H | CYTB | − | 98.8 | 1.984 | Novel |
| HCT6 | OFA | T15674C | S310P | CYTB | − | 100 | 1.899 | HmtDB |
| HCT26 | OCA | A8836G | M104V | ATP6 | − | 100 | 2.376 | Mitomap |
| HCT5 | OHTN | G4148A | R281H | ND1 | − | 100 | 2.398 | Novel |
| HCT31 | OCAp | G8839A | A105T | ATP6 | − | 98.7 | 1.851 | HmtDB |
| BRCA13 | BRduct | 3331del242bp | Frameshift | ND1 | 20 | 100 | − | Novel |
| BRCA14 | BRduct | T15843C | M366T | CYTB | + | 100 | 2.458 | Novel |
| BRCA17 | BRduct | T15813G | V356G | CYTB | − | 100 | 1.806 | Novel |
Het., heteroplasmy (% of mutated); OCA, oncocytic thyroid carcinoma; OCAp, oncocytic thyroid carcinoma with papillary festures; OFA, onocytic follicular thyroid adenoma; OHTN, oncocytic hyperplastic thyroid module; BRduct, invasive ductal carcirnoma of the breast. Bold indicates disruptive mutations.