Spreadsheet: 60228d91-333e-44d2-bf6e-0f05ebec2e21
Sheet: Sheet2

Gene | Base number | Base Change | Amino acid change | Heteroplasmic/Homoplasmic | Inherited/Sporadic | MutPred Pathogenicity Score
MT-TF | 582 | T>C
MT-TF | 583 | G>A
MT-TF | 586 | G>A
MT-TF | 611 | G>A
MT-TF | 617 | G>A
MT-TF | 622 | G>A
MT-TF | 642 | T>C
MT-RNR1 | 1494 | C>T
MT-RNR1 | 1555 | A>G
MT-TV | 1606 | G>A
MT-TV | 1624 | C>T
MT-TV | 1630 | A>G
MT-TL1 | 3242 | G>A
MT-TL1 | 3243 | A>G
MT-TL1 | 3243 | A>T
MT-TL1 | 3244 | G>A
MT-TL1 | 3251 | A>G
MT-TL1 | 3255 | G>A
MT-TL1 | 3256 | C>T
MT-TL1 | 3258 | T>C
MT-TL1 | 3260 | A>G
MT-TL1 | 3271 | T>C
MT-TL1 | 3273 | T>C
MT-TL1 | 3280 | A>G
MT-TL1 | 3283 | G>A
MT-TL1 | 3287 | G>A
MT-TL1 | 3302 | A>G
MT-ND1 | 3308 | T>G | p.M1X | Both | Inherited | *
MT-ND1 | 3376 | G>A | p.E24K | Both | Sporadic | 0.865
MT-ND1 | 3460 | G>A | p.A52T | Both | Inherited | 0.765
MT-ND1 | 3644 | T>C | p.V113A | Homoplasmic | Inherited | 0.803
MT-ND1 | 3697 | G>A | p.G131S | Heteroplasmic | Inherited | 0.876
MT-ND1 | 3733 | G>A | p.E143K | Both | Inherited | 0.928
MT-ND1 | 3946 | G>A | p.E214K | Both | Inherited | 0.863
MT-ND1 | 3949 | T>C | p.Y215H | Heteroplamic | Sporadic | 0.826
MT-TI | 4267 | A>G
MT-TI | 4269 | A>G
MT-TI | 4274 | T>C
MT-TI | 4284 | G>A
MT-TI | 4298 | G>A
MT-TI | 4300 | A>G
MT-TI | 4302 | A>G
MT-TI | 4309 | G>A
MT-TI | 4315 | A Deletion
MT-TQ | 4332 | G>A
MT-TM | 4409 | T>C
MT-TM | 4415 | A>G
MT-TM | 4450 | G>A
MT-ND2 | 4681 | T>C | p.L71P | Heteroplasmic | Sporadic | 0.818
MT-TW | 5521 | G>A
MT-TW | 5532 | G>A
MT-TW | 5537 | T Insertion
MT-TW | 5538 | G>A
MT-TW | 5540 | G>A
MT-TW | 5543 | T>C
MT-TW | 5545 | C>T
MT-TW | 5556 | G>A
MT-TA | 5591 | G>A
MT-TA | 5628 | T>C
MT-TA | 5636 | T>C
MT-TA | 5650 | G>A
MT-TN | 5692 | T>C
MT-TN | 5693 | T>C
MT-TN | 5698 | G>A
MT-TN | 5703 | G>A
MT-TN | 5728 | T>C
MT-TC | 5814 | T>C
MT-TY | 5835 | G>A
MT-TY | 5874 | T>C
MT-TY | 5877 | C>T
MT-TY | 5885 | T Deletion
MT-TY | 5888 | T Insertion
MT-CO1 | 5920 | G>A | p.W6X | Heteroplasmic | Sporadic | *
MT-CO1 | 6020 | 5BP Deletion | Frameshift | Heteroplasmic | Sporadic | *
MT-CO1 | 6489 | C>A | p.L196I | Heteroplasmic | Inherited | 0.698
MT-CO1 | 6708 | G>A | p.G269X | Heteroplasmic | Sporadic | *
MT-CO1 | 6721 | T>C | p.M273T | Heteroplasmic | Sporadic | 0.718
MT-CO1 | 6742 | T>C | p.I280T | Heteroplasmic | Sporadic | 0.766
MT-CO1 | 6930 | G>A | p.G343X | Heteroplasmic | Sporadic | *
MT-CO1 | 7443 | A>G | p.X514G | Homoplasmic | Inherited | *
MT-CO1 | 7444 | G>A | p.X514K | Homoplasmic | Inherited | *
MT-TS1 | 7472 | A>C
MT-TS1 | 7472 | C Insertion
MT-TS1 | 7480 | T>C
MT-TS1 | 7497 | G>A
MT-TS1 | 7511 | T>C
MT-TS1 | 7512 | T>C
MT-CO2 | 7587 | T>C | p.M1T | Heteroplasmic | Inherited | 0.597
MT-CO2 | 7671 | T>A | p.M29K | Heteroplasmic | Sporadic | 0.782
MT-CO2 | 7706 | G>A | p.A41T | Heteroplasmic | Inherited | 0.506
MT-CO2 | 7896 | G>A | p.W104X | Heteroplasmic | Sporadic | *
MT-CO2 | 7970 | G>T | p.E129X | Heteroplasmic | Inherited | *
MT-CO2 | 7989 | T>C | p.L135P | Heteroplasmic | Sporadic | 0.909
MT-CO2 | 8042 | 2BP Deletion | p.55X | Heteroplasmic | Inherited | *
MT-TK | 8313 | G>A
MT-TK | 8328 | G>A
MT-TK | 8342 | G>A
MT-TK | 8344 | A>G
MT-TK | 8355 | T>C
MT-TK | 8356 | T>C
MT-TK | 8362 | T>G
MT-TK | 8363 | G>A
MT-ATP6 | 8851 | T>C | p.W109R | Both | Inherited and Sporadic | 0.82
MT-ATP6 | 8993 | T>C | p.L156P | Heteroplasmic | Inherited and Sporadic | 0.808
MT-ATP6 | 8993 | T>G | p.L156R | Heteroplasmic | Inherited and Sporadic | 0.843
MT-ATP6 | 9176 | T>G | p.L217R | Heteroplasmic | Inherited | 0.845
MT-ATP6 | 9176 | T>C | p.L217P | Both | Inherited | 0.851
MT-ATP6 | 9185 | T>C | p.L220P | Heteroplasmic | Inherited | 0.882
MT-ATP6 | 9191 | T>C | p.L222P | Heteroplasmic | Inherited | 0.806
MT-ATP6 | 9205 | TA Deletion | X226M | Homoplasmic | Inherited | *
MT-CO3 | 9379 | G>A | p.W58X | Heteroplasmic | Sporadic | *
MT-CO3 | 9487 | 15BP Deletion | Frameshift | Heteroplasmic | Sporadic | *
MT-CO3 | 9537 | C Insertion | Frameshift | Both | Sporadic | *
MT-CO3 | 9559 | C Deletion | Frameshift | Heteroplasmic | Sporadic | *
MT-CO3 | 9789 | T>C | p.S195P | Heteroplasmic | Sporadic | 0.756
MT-CO3 | 9952 | G>A | p.W249X | Heteroplasmic | Sporadic | *
MT-CO3 | 9957 | T>C | p.F251L | Heteroplasmic | Inherited | 0.686
MT-TG | 10010 | T>C
MT-ND3 | 10158 | T>C | p.S34P | Heteroplasmic | Inherited and Sporadic | 0.342
MT-ND3 | 10191 | T>C | p.S45P | Heteroplasmic | Inherited and Sporadic | 0.451
MT-ND3 | 10197 | G>A | p.A47T | Heteroplasmic | Inherited | 0.663
MT-TR | 10450 | A>G
MT-ND4L | 10663 | T>C | p.V65A | Homoplasmic | Inherited | 0.604
MT-ND4 | 11232 | T>C | p.L158P | Heteroplasmic | Not determined | 0.729
MT-ND4 | 11777 | C>A | p.R340S | Heteroplasmic | Inherited | 0.898
MT-ND4 | 11778 | G>A | p.R340H | Both | Inherited | 0.913
MT-ND4 | 11832 | G>A | p.W358X | Heteroplasmic | Sporadic | *
MT-TH | 12147 | G>A
MT-TH | 12183 | G>A
MT-TS2 | 12258 | C>A
MT-TL2 | 12276 | G>A
MT-TL2 | 12294 | G>C
MT-TL2 | 12313 | T>C
MT-TL2 | 12315 | G>A
MT-TL2 | 12316 | G>A
MT-TL2 | 12320 | A>G
MT-TL2 | 12334 | G>A
MT-ND5 | 12425 | A Deletion | Frameshift | Heteroplasmic | Sporadic | *
MT-ND5 | 12706 | T>G | p.F124L | Heteroplasmic | Inherited and Sporadic | 0.774
MT-ND5 | 12782 | T>G | p.I149S | Heteroplasmic | Inherited | 0.763
MT-ND5 | 13042 | G>A | p.A263T | Heteroplasmic | Inherited | 0.748
MT-ND5 | 13045 | A>C | p.M237L | Heteroplasmic | Not determined | 0.748
MT-ND5 | 13084 | A>T | p.S250C | Heteroplasmic | Inherited | 0.802
MT-ND5 | 13271 | T>C | p.L312P | Heteroplasmic | Not determined | 0.787
MT-ND5 | 13513 | G>A | p.D393N | Heteroplasmic | Inherited and Sporadic | 0.775
MT-ND5 | 13514 | A>G | p.D393G | Heteroplasmic | Inherited and Sporadic | 0.757
MT-ND6 | 14459 | G>A | p.A72V | Both | Inherited | 0.724
MT-ND6 | 14484 | T>C | p.M64V | Both | Inherited | 0.618
MT-ND6 | 14487 | T>C | p.M63V | Heteroplasmic | Inherited | 0.671
MT-TE | 14687 | A>G
MT-TE | 14709 | T>C
MT-TE | 14710 | G>A
MT-TE | 14723 | T>C
MT-TE | 14724 | G>A
MT-TE | 14728 | T>C
MT-TE | 14739 | G>A
MT-CYB | 14787 | 4BP Deletion | Frameshift | Heteroplasmic | Sporadic | *
MT-CYB | 14846 | G>A | p. G34S | Heteroplasmic | Sporadic | 0.894
MT-CYB | 14849 | T>C | p.S35P | Heteroplasmic | Sporadic | 0.807
MT-CYB | 15059 | G>A | p.G105X | Heteroplasmic | Sporadic | *
MT-CYB | 15084 | G>A | p.W113X | Heteroplasmic | Sporadic | *
MT-CYB | 15150 | G>A | p.W135X | Heteroplasmic | Sporadic | *
MT-CYB | 15168 | G>A | p.W141X | Heteroplasmic | Sporadic | *
MT-CYB | 15197 | T>C | p.S151P | Heteroplasmic | Not determined | 0.812
MT-CYB | 15242 | G>A | p.G166X | Heteroplasmic | Sporadic | *
MT-CYB | 15243 | G>A | p.G166E | Heteroplasmic | Sporadic | 0.936
MT-CYB | 15257 | G>A | p.D171N | Homoplasmic | Inherited | 0.721
MT-CYB | 15497 | G>A | p.G251S | Homoplasmic | Inherited | 0.47
MT-CYB | 15498 | G>A | p.G251D | Heteroplasmic | Inherited | 0.453
MT-CYB | 15498 | 24BP Deletion | Frameshift | Heteroplasmic | Sporadic | *
MT-CYB | 15579 | A>G | p.Y278C | Heteroplasmic | Sporadic | 0.812
MT-CYB | 15615 | G>A | p.G290D | Heteroplasmic | Sporadic | 0.827
MT-CYB | 15635 | T>C | p.S297P | Homoplasmic | Sporadic | 0.824
MT-CYB | 15699 | G>C | p.R318P | Heteroplasmic | Sporadic | 0.874
MT-CYB | 15723 | G>A | P.W326X | Heteroplasmic | Sporadic | *
MT-CYB | 15761 | G>A | p.G339X | Heteroplasmic | Sporadic | *
MT-CYB | 15762 | G>A | p.G339E | Heteroplasmic | Sporadic | 0.877
MT-TP | 15967 | G>A
MT-TP | 15990 | C>T