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. 2017 Nov 8;8(1):51–58. doi: 10.3892/br.2017.1014

Table I.

Mutations in the multi-gene panel (n=46).

Index Gene name Var start Var end Ref allele Var allele Amino acid change
  1 MT-ND1 3316 3316 G A A-T
  2 MT-ND1 3376 3376 G A E-K
  3 MT-ND1 3394 3394 T C Y-H
  4 MT-ND1 3460 3460 G A A-T
  5 MT-ND1 3497 3497 C T A-V
  6 MT-ND1 3571 3571 C T L-F
  7 MT-ND1 3635 3635 G A S-N
  8 MT-ND1 3700 3700 G A A-T
  9 MT-ND1 3733 3733 G A E-K
10 MT-ND1 3866 3866 T C I-T
11 MT-ND1 4025 4025 C T T-M
12 MT-ND1 4171 4171 C A L-M
13 MT-ND1 4216 4216 T C Y-H
14 MT-ND2 4640 4640 C A I-M
15 MT-ND2 5244 5244 G A G-S
16 MT-ATP6 9101 9101 T C I-T
17 MT-CO3 9804 9804 G A A-T
18 MT-ND3 10237 10237 T C I-T
19 MT-ND4L 10663 10663 T C V-A
20 MT-ND4L 10680 10680 G A A-T
21 MT-ND4 11253 11253 T C I-T
22 MT-ND4 11696 11696 G A V–I
23 MT-ND4 11778 11778 G A R-H
24 MT-ND5 12338 12338 T C M-T
25 MT-ND5 12811 12811 T C Y-H
26 MT-ND5 12848 12848 C T A-V
27 MT-ND5 13051 13051 G A G-S
28 MT-ND5 13528 13528 A G T-A
29 MT-ND5 13637 13637 A G Q-R
30 MT-ND5 13730 13730 G A G-E
31 MT-ND6 14279 14279 G A S-L
32 MT-ND6 14325 14325 T C N-D
33 MT-ND6 14482 14482 C A M-I
34 MT-ND6 14482 14482 C G M-I
35 MT-ND6 14484 14484 T C M-V
36 MT-ND6 14495 14495 A G L-S
37 MT-ND6 14498 14498 T C Y-C
38 MT-ND6 14502 14502 T C I–V
39 MT-ND6 14568 14568 C T G-S
40 MT-ND6 14596 14596 A T I-M
41 MT-CYB 14831 14831 G A A-T
42 MT-CYB 15812 15812 G A V-M
43 MT-TM 4435 4435 A G tRNAMet
44 MT-TT 15951 15951 A G tRNAThr
45 MT-TE 14693 14693 A G tRNAGlu
46 MT-TE 14727 14727 T C tRNAGlu

Var start, start site of variant; var end, end site of variant; ref allele, referenced allele; Var allele, variant allele.