Table 5 List of the new probable somatic variants at various base positions (column 1) in the mitochondrial genome after comparing five pairs of patient and sibling samples using MuTect2 and ruling out germ-line and known COSMIC somatic variants, encoding for various regions (column 2) and the type of variant (column 3)

m.4604CA > C

ND2

LOF

m.11404A > G, m.11031G > GA

ND4

LOF

m.13557A > G, m.12417CA > C

ND5

LOF

m.7396GC > G, m.7386CTATA > C, m.6691GA > G

COX1

LOF

m.8006C > T, m.8151CG > C

COX2

LOF

m.8396AC > A, m.8402ATTAC > A

ATP8

LOF

m.3745G > A, m.3542T > C

ND1

Missense

m.5452C > T, m.4933T > C

ND2

Missense

m.12048T > C, m.12033A > G, m.12036T > C, m.12092C > A, m.12105T > C, m.11753T > C, m.11295T > C, m.11394T > C, m.11118T > C, m.12096T > C

ND4

Missense

m.10705T > C

ND4L

Missense

m.13022T > C, m.12460T > C

ND5

Missense

m.14384G > A, m.14553C > T, m.14378T > C

ND6

Missense

m.15596G > A, m.15828C > T, m.15852T > C

CYTB

Missense

m.5910G > A

COX1

Missense

m.8001A > G, m.8025A > G, m.7749T > C, m.8051T > C

COX2

Missense

m.8594T > C, m.9052A > G, m.9094C > T, m.8936T > A

ATP6

Missense

m.8562C > T

ATP8

Missense