Spreadsheet: 24c239ae-739c-413e-b013-a0350a216468
Sheet: Sheet1

Reference | Patient | Cell | Gene | Position | Base Change | Mutation Level | Amino Acid Change | MutPred Pathogenicity Score | Cytochrome c Oxidase Histochemistry
Greaves et al 2006 | 1 | 1 | MT-CO1 | 6277 | G>A | 1 | p.G125D | 0.867 | Deficient
Greaves et al 2006 | 1 | 2 | MT-CO1 | 7275 | T>C | 1 | p.S458P | 0.796 | Deficient
Greaves et al 2010 | 1 | 1 | MT-RNR2 | 2559 | T>G | 0.5 | ~ | ~ | Deficient
Greaves et al 2010 | 1 | 3 | MT-CO3 | 9714 | G>A | 1 | p.G170S | 0.618 | Deficient
Greaves et al 2010 | 1 | 5 | MT-CO1 | 5997 | G>A | 1 | p.A32T | 0.591 | Deficient
Greaves et al 2010 | 1 | 6 | MT-RNR2 | 1905 | C>A | 1 | ~ | ~ | Deficient
Greaves et al 2010 | 1 | 7 | MT-TE | 14704 | T>C | 1 | ~ | ~ | Deficient
Greaves et al 2010 | 1 | 8 | MT-ND5 | 13681 | A>G | 1 | p.T449A | 0.232 | Positive
Greaves et al 2010 | 2 | 1 | MT-ND4L | 10761 | T>C | 0.8 | p.C98R | 0.706 | Deficient
Greaves et al 2010 | 2 | 2 | MT-ND4 | 11015 | A>G | 0.5 | p.S86G | 0.399 | Deficient
Greaves et al 2010 | 2 | 3 | MT-CO3 | 9247 | G>A | 1 | p.S14N | 0.732 | Deficient
Greaves et al 2010 | 2 | 4 | MT-CYB | 15077 | G>A | 1 | p.E111K | 0.684 | Deficient
Greaves et al 2010 | 2 | 8 | MT-ND5 | 13916 | G>A | 0.4 | p.G527E | 0.863 | Deficient
Greaves et al 2010 | 2 | 9 | MT-RNR2 | 2816 | G>A | 1 | ~ | ~ | Deficient
Greaves et al 2010 | 2 | 10 | MT-ND4 | 10971 | G>A | 1 | p.W71X | ~ | Positive (Complex I Deficient)
[NAME] et al 2003 | 1 | 1- | MT-RNR1 | 1289 | G>C | 1 | ~ | ~ | Deficient
[NAME] et al 2003 | 1 | 1- | MT-CO2 | 8154 | G>A | 1 | p.G190E | 0.936 | Deficient
[NAME] et al 2003 | 1 | 1+ | MT-CYB | 15084 | G>A | 0.6 | p.W113X | ~ | Positive
[NAME] et al 2003 | 1 | 2- | MT-CO1 | 7090 | G>A | 1 | p.W396X | ~ | Deficient
[NAME] et al 2003 | 1 | 2- | MT-CO2 | 7775 | G>A | 0.7 | p.V64I | 0.446 | Deficient
[NAME] et al 2003 | 1 | 2- | MT-ND5 | 12390 | C Insertion | 0.9 | Frameshift | ~ | Deficient
[NAME] et al 2003 | 1 | 2+ | MT-CO1 | 6852 | G>A | 0.6 | p.G317S | 0.776 | Positive
[NAME] et al 2003 | 1 | 3- | MT-CO3 | 9774 | G>A | 1 | p.D190N | 0.848 | Deficient
[NAME] et al 2003 | 1 | 3- | MT-ND4 | 11100 | A>G | 0.3 | p.E114G | 0.64 | Deficient
[NAME] et al 2003 | 1 | 4- | MT-RNR2 | 2815 | G>A | 0.6 | ~ | ~ | Deficient
[NAME] et al 2003 | 1 | 5- | Non-Coding | 564 | G>A | 0.8 | ~ | ~ | Deficient
[NAME] et al 2003 | 1 | 5- | MT-CO1 | 7065 | G>A | 1 | p.A388T | 0.729 | Deficient
[NAME] et al 2003 | 1 | 6- | MT-TF | 586 | G>A | 0.5 | ~ | ~ | Deficient
[NAME] et al 2003 | 1 | 6- | MT-RNR1 | 1097 | G>A | 1 | ~ | ~ | Deficient
[NAME] et al 2003 | 1 | 6- | MT-ATP6 | 8572 | G>A | 1 | p.G16S | 0.181 | Deficient
[NAME] et al 2003 | 1 | 7- | MT-RNR1 | 879 | T>C | 0.5 | ~ | ~ | Deficient
[NAME] et al 2003 | 1 | 7- | MT-ND2 | 4788 | G>A | 0.4 | p.G107X | ~ | Deficient
[NAME] et al 2003 | 2 | 2 | MT-RNR2 | 2643 | G>C | 0.9 | ~ | ~ | Deficient
[NAME] et al 2003 | 2 | 1- | MT-RNR2 | 2275 | T>C | 0.4 | ~ | ~ | Deficient
[NAME] et al 2003 | 2 | 1- | MT-TQ | 4399 | T>C | 1 | ~ | ~ | Deficient
[NAME] et al 2003 | 2 | 1+ | MT-CO3 | 9985 | G>A | 0.7 | p.G260E | 0.737 | Positive
[NAME] et al 2003 | 2 | 1+ | MT-TG | 10020 | T>C | 0.6 | ~ | ~ | Positive
[NAME] et al 2003 | 2 | 2- | MT-RNR2 | 3094 | G>A | 0.4 | ~ | ~ | Deficient
[NAME] et al 2003 | 2 | 2- | Non-Coding | 5892 | T>C | 1 | ~ | ~ | Deficient
[NAME] et al 2003 | 2 | 2- | MT-CO1 | 7013 | G>A | 0.5 | Synonymous | ~ | Deficient
[NAME] et al 2003 | 2 | 2- | MT-CO3 | 9544 | G>A | 1 | p.G113E | 0.758 | Deficient
[NAME] et al 2003 | 2 | 3- | MT-CO3 | 9537 | C Deletion | 1 | Frameshift | ~ | Deficient
[NAME] et al 2003 | 2 | 4- | MT-ND2 | 4550 | T>C | 1 | Synonymous | ~ | Deficient
[NAME] et al 2003 | 2 | 5- | Non-Coding | 16183 | A Deletion | 1 | ~ | ~ | Deficient
[NAME] et al 2003 | 2 | 6- | MT-RNR2 | 3014 | G>A | 1 | ~ | ~ | Deficient
[NAME] et al 2003 | 2 | 6- | MT-CYB | 15540 | C Insertion | 0.3 | Frameshift | ~ | Deficient
[NAME] et al 2003 | 2 | 7- | MT-RNR2 | 2916 | G>A | 0.5 | ~ | ~ | Deficient
[NAME] et al 2003 | 2 | 7- | MT-CO1 | 6698 | A Deletion | 1 | Frameshift | ~ | Deficient
[NAME] et al 2003 | 3 | 1- | MT-CO1 | 7053 | G>A | 1 | p.G384X | ~ | Deficient
[NAME] et al 2003 | 3 | 1- | MT-ATP6 | 8557 | G>A | 1 | p.A11T | 0.147 | Deficient
[NAME] et al 2003 | 3 | 1- | MT-CO3 | 9489 | G>A | 1 | p.A95T | 0.38 | Deficient
[NAME] et al 2003 | 3 | 1+ | MT-ND4L | 10591 | T>C | 1 | p.F41S | 0.693 | Positive
[NAME] et al 2003 | 3 | 2- | Non-Coding | 309 | C Deletion | 0.5 | ~ | ~ | Deficient
[NAME] et al 2003 | 3 | 2- | MT-CO3 | 9537 | C Insertion | 1 | Frameshift | ~ | Deficient
[NAME] et al 2003 | 3 | 2- | Non-Coding | 16111 | C>T | 1 | ~ | ~ | Deficient
[NAME] et al 2003 | 3 | 3- | Non-Coding | 375 | C Insertion | 1 | ~ | ~ | Deficient
[NAME] et al 2003 | 3 | 3- | MT-CO2 | 7901 | T>C | 1 | [NAME] | 0.903 | Deficient
[NAME] et al 2003 | 3 | 4- | MT-RNR1 | 943 | G>A | 1 | ~ | ~ | Deficient
[NAME] et al 2003 | 3 | 4- | MT-CO1 | 6937 | T>C | 1 | p.I345T | 0.721 | Deficient
[NAME] et al 2003 | 3 | 5- | MT-TM | 4446 | G>A | 0.6 | ~ | ~ | Deficient
[NAME] et al 2003 | 3 | 5- | MT-CO3 | 9543 | G>A | 0.8 | p.G113X | ~ | Deficient
[NAME] et al 2003 | 3 | 5- | MT-CO3 | 9921 | G>A | 0.7 | p.A239T | 0.543 | Deficient
[NAME] et al 2003 | 3 | 5- | MT-CYB | 14920 | C>T | 0.7 | Synonymous | ~ | Deficient
[NAME] et al 2003 | 3 | 7- | MT-RNR1 | 1586 | G>A | 0.6 | ~ | ~ | Deficient
[NAME] et al 2003 | 5 | 1- | MT-RNR2 | 1831 | G>A | 0.3 | ~ | ~ | Deficient
[NAME] et al 2003 | 5 | 1+ | Non-Coding | 309 | C Insertion | 0.6 | ~ | ~ | Positive
[NAME] et al 2003 | 5 | 2- | MT-ND2 | 4986 | A>G | 0.4 | p.T173A | 0.853 | Deficient
[NAME] et al 2003 | 5 | 3- | MT-ND2 | 5164 | G>A | 0.3 | p.R232H | 0.311 | Deficient
[NAME] et al 2003 | 5 | 4- | MT-ND4 | 11770 | T>C | 0.3 | Synonymous | ~ | Deficient
[NAME] et al 2003 | 5 | 5- | MT-CYB | 14963 | G>A | 0.6 | p.V73M | 0.817 | Deficient
[NAME] et al 2003 | 6 | 6- | MT-CYB | 15756 | G>A | 0.4 | p.W337X | ~ | Deficient
 | 1 | 5 | Non-Coding | 523 | CA Insertion | 1 | ~ | ~ | Positive
 | 1 | 7 | MT-ND1 | 3638 | T>C | 0.3 | p.L111P | 0.93 | Positive
 | 1 | 7 | MT-ND5 | 13558 | G>A | 0.35 | p.A408T | 0.821 | Positive
 | 1 | 9 | Non-Coding | 574 | A>C | 0.5 | ~ | ~ | Positive
 | 1 | 16 | MT-RNR1 | 1201 | G>C | 0.9 | ~ | ~ | Positive
 | 1 | 16 | MT-TL2 | 12293 | G>A | 0.5 | ~ | ~ | Positive
 | 1 | 17 | MT-ND2 | 5140 | G>A | 1 | p.S224N | 0.536 | Deficient
 | 2 | 8 | MT-CO2 | 7671 | T>C | 0.7 | p.M29T | 0.584 | Positive
 | 2 | 9 | Non-Coding | 16112 | C>T | 0.35 | ~ | ~ | Positive
 | 2 | 11 | MT-ND2 | 4972 | G>A | 0.5 | p.G168D | 0.884 | Positive
 | 2 | 13 | MT-CO1 | 6470 | A>G | 0.6 | Synonymous | ~ | Positive
 | 2 | 14 | MT-RNR2 | 2976 | G>A | 0.5 | ~ | ~ | Positive
 | 2 | 15 | MT-RNR2 | 1734 | G>A | 0.5 | ~ | ~ | Positive
 | 3 | 11 | MT-CO3 | 9637 | T>C | 1 | p.I144T | 0.721 | Positive
 | 3 | 12 | MT-ND4 | 11452 | T>C | 1 | Synonymous | ~ | Positive
 | 3 | 16 | MT-RNR1 | 1134 | G>A | 0.5 | ~ | ~ | Positive
 | 3 | 22 | MT-RNR2 | 2759 | TA Deletion | 1 | ~ | ~ | Positive
 | 3 | 24 | MT-CO1 | 6168 | G>A | 0.5 | p.A89T | 0.837 | Positive
 | 3 | 24 | Non-Coding | 16065 | G>A | 1 | ~ | ~ | Positive
 | 4 | 5 | MT-ND6 | 14381 | A>G | 0.5 | p.M98T | 0.717 | Deficient
 | 4 | 8 | MT-RNR2 | 3103 | C>T | 0.8 | ~ | ~ | Deficient
 | 4 | 8 | MT-TL1 | 3243 | A>G | 0.3 | ~ | ~ | Positive
 | 4 | 8 | MT-ND1 | 4135 | T>C | 0.9 | p.Y277H | 0.606 | Deficient
 | 4 | 8 | MT-CO2 | 7955 | C>T | 0.4 | p.P124S | 0.611 | Deficient
 | 4 | 10 | MT-CO1 | 7323 | G>A | 0.5 | p.E474K | 0.668 | Positive
 | 5 | 1 | Non-Coding | 5656 | A>G | 0.4 | ~ | ~ | Positive
 | 5 | 2 | MT-RNR1 | 1562 | G>A | 0.5 | ~ | ~ | Deficient
 | 5 | 5 | MT-ND4 | 10857 | T>C | 0.9 | p.I33T | 0.432 | Deficient
 | 5 | 7 | Non-Coding | 71 | G Deletion | 1 | ~ | ~ | Deficient
 | 5 | 7 | MT-TW | 5563 | G>A | 0.7 | ~ | ~ | Deficient
 | 5 | 7 | MT-ND5 | 12818 | G>A | 1 | p.R161Q | 0.742 | Deficient
 | 5 | 9 | MT-CYB | 15639 | T>C | 0.65 | p.I298T | 0.611 | Deficient
 | 5 | 11 | MT-RNR2 | 3197 | T>C | 0.45 | ~ | ~ | Positive
 | 6 | 2 | MT-ND1 | 3867 | C>T | 0.45 | Synonymous | ~ | Deficient
 | 6 | 2 | MT-CO2 | 7861 | T>C | 0.5 | Synonymous | ~ | Deficient
 | 6 | 7 | MT-ND4L | 10550 | A>G | 1 | Synonymous | ~ | Deficient
 | 6 | 8 | MT-RNR2 | 2347 | C>T | 0.5 | ~ | ~ | Deficient
 | 6 | 8 | MT-ND1 | 4062 | T>C | 0.3 | Synonymous | ~ | Deficient
 | 6 | 8 | MT-TD | 7565 | G>A | 1 | ~ | ~ | Deficient
 | 6 | 8 | MT-CO2 | 8161 | C>A | 0.65 | p.Y192X | ~ | Deficient
 | 6 | 8 | MT-ND4 | 12086 | C>T | 0.5 | p.P433S | 0.835 | Deficient
 | 7 | 5 | MT-CO2 | 7768 | A>G | 0.9 | Synonymous | ~ | Positive
 | 7 | 5 | MT-CO3 | 9477 | G>A | 0.75 | p.V91I | 0.186 | Positive
 | 7 | 7 | MT-CO1 | 6037 | G>A | 0.6 | p.G45D | 0.704 | Deficient
 | 8 | 2 | MT-CYB | 14933 | T>C | 0.6 | p.F63L | 0.774 | Deficient
 | 8 | 7 | MT-ND5 | 12450 | C>T | 0.55 | Synonymous | ~ | Deficient
 | 8 | 7 | MT-ND5 | 13021 | C>T | 0.5 | p.L229F | 0.666 | Deficient
 | 8 | 9 | MT-CO2 | 8007 | G>A | 1 | p.R141Q | 0.729 | Deficient
 | 8 | 12 | MT-CO1 | 6749 | C>T | 0.4 | Synonymous | ~ | Deficient
 | 8 | 12 | MT-ND5 | 13726 | G>A | 0.5 | p.A464T | 0.716 | Deficient
 | 8 | 16 | Non-Coding | 438 | C>T | 1 | ~ | ~ | Deficient
 | 8 | 16 | MT-RNR1 | 1576 | G>A | 0.5 | ~ | ~ | Deficient
 | 9 | 1 | MT-ND4 | 11116 | T>C | 0.45 | Synonymous | ~ | Deficient
 | 9 | 7 | MT-ND5 | 13652 | C>T | 0.4 | p.T439I | 0.559 | Positive
 | 9 | 8 | MT-CO3 | 9325 | T>C | 1 | p.M40T | 0.289 | Deficient
 | 9 | 9 | MT-RNR1 | 1121 | A>G | 1 | ~ | ~ | Deficient
 | 9 | 9 | MT-CO1 | 6537 | G>A | 0.5 | p.D212N | 0.789 | Deficient
 | 9 | 10 | Non-Coding | 16189 | T>C | 1 | ~ | ~ | Deficient
References | Greaves et al 2006. | Greaves LC, [NAME], Tadrous PJ, [NAME], [NAME], et [NAME]. (2006). Proc Natl Acad Sci U S A 103: 714-719.
 | Greaves et al 2010. | Greaves LC, [NAME], [NAME], Kirkwood TB, Mathers JC, et [NAME]. (2010)  [NAME] 45: 573-579
 | [NAME] et al 2003. | [NAME], [NAME], [NAME], [NAME], Chinnery PF, et [NAME]. (2003) J [NAME] 112: 1351-1360