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. 2019 Dec 2;375(1790):20190175. doi: 10.1098/rstb.2019.0175

Table 1.

Summary table of the sequenced samples. (Allele frequencies for the 14 sites sequenced in the blood, cheek and hair samples of 11 individuals. The MAF of the hair sample listed in the table is an average of the MAF of all shafts collected from the donor. The designation of minor versus major allele is based on the minor allele found in the blood and cheek tissue. For those sites located in the coding region of the mtDNA, the base change from the minor allele and resulting amino acid were recorded to determine if it was a synonymous or non-synonymous heteroplasmy.)

ID age position major/minor allele MAF blood MAF cheek MAF shaft/ root hair variance shaft/root blood and cheek variance total hairs shafts/roots region amino acid change
m137 47 16 320 C/T 0.052 0.264 0.283 0.154 0.084 8 8/0 D-loop
m137c1 26 16 320 C/T 0.052 0.187 0.066 0.07 0.043 5 0/5 D-loop
m164g 78 12 192 G/A 0.407 0.593 0.242 0.729 0.034 4 4/0 tRNA
m163c1 24 12 192 G/A 0.44 0.44 0.246 0.321 0.000 8 8/0 tRNA
m163c2 23 12 192 A/G 0.482 0.46 0.608 0.104 0.001 6 6/0 tRNA
m163c2 23 12 358 A/T 0.063 0.059 0.009 0.017 0.000 6 6/0 MT-ND5 non-synonymous
m163c2 23 13 842 A/C 0.151 0.153 0.11 0.02 0.000 4 4/0 MT-ND5 synonymous
m166 39 1585 A/G 0.059 0.054 0.064/0.005 0.183/0.005 0.000 8 8/6 rRNA
m166c5 15 1585 A/G 0.195 0.215 0.183/0.337 0.270/0.227 0.001 4 4/4 rRNA
m183 51 709 A/G 0.239 0.232 0.674 0.481 0.000 2 2/0 rRNA
m186c1 21 13 951 T/C 0.057 0.054 0.014 0.046 0.000 8 8/0 MT-ND5 non-synonymous
m188 56 5107 C/T 0.136 0.126 0.156/0.179 0.376/0.474 0.000 8 8/8 MT-ND2 non-synonymous
m188c2 17 5107 C/T 0.172 0.195 0.325 0.121 0.001 8 8/0 MT-ND2 non-synonymous
m188c2 17 16 240 A/G 0.067 0.107 0.053 0.026 0.005 8 8/0 D-loop