Table 2 Mitochondrial DNA mutations identified exclusively in the tumoral sample of patient ND6-WT. Abbreviation: rsid = reference SNP cluster ID; chrom = chromosome; ref = reference allele; alt = alternative, non-reference allele; aa = amino acid; AD ALT % = Allelic depth (aligned sequencing read count) a percentage of the alternative allele with mutation.

From: Characterization of a new mutation of mitochondrial ND6 gene in hepatocellular carcinoma and its effects on respiratory complex I

Gene

rsID

Chrom

Mutation

Condon change

REF AA

ALT AA

Mutation Type

AD ALT %

Mapping quality

Impact

Ref

ND2

-

MT

m.4813T > C

gTc/gCc

Val

Ala

SNP

18.128

60

MODERATE

-

CO1

rs386828988

MT

m.6570G > T

Gcc/Tcc

Ala

Ser

SNP

75.484

60

MODERATE

17

ND6

-

MT

m.14,423 A>-

Tca/-ca

Ser

Gln

INDEL

70.739

59.9

HIGH

-

ND6

-

MT

m.14,425 C > T

ggG/ggA

Pro

Ser

SNP

70.830

59.9

LOW

-

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