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Franz et al. J Transl Genet Genom 2020;4:50-70 I https://doi.org/10.20517/jtgg.2020.13 Page 55

[111,118,119] [ 56,107,110,120,121] [122,123] [124,125] [126] [126-129] [130-132] [133] [134-138] [9,129,139] [129,140-145]

x x x

x x

x x x x x

x x x

x x x x x x

x x x x x x x x

x x x x x x x x x x x
Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive Recessive

Nucleus Cytopl/ nucleus Cytopl Cytopl Cytopl Cytopl Cytopl Cytopl Cytopl Cytopl Cytopl

7q22.3 2p16.1-p15 16q22.1 5q34 2q21.3 5q32 12q13.3 1p35.1 9p22.31 1p13.3 6p21.33

Ψ Ψ
c.[89_90del] (T30Kfs*20); c[.329_332delCTGA] (T110Rfs*4); c.[1348C-T] (R450X); c.[1507G-T] (D503Y) c.[242A-C] (K81T); c.2251A-G (R751G) c.[5A-G] (D2G); c.[45+1G-T]; c.[1535G-A] (R512Q); c.[1367C-T] (S456L); c.[1846_1847delTA] (Y61Lfs*6); c.[96_97del] (C32Wfs*39) c.[1459C-T] (R487C); c.[1099G-T] (D367Y); c.[821C-T] (A274V); c.[766A-C] (M256L); c.[1379G-A] (R460H); c.[1480C-T] (R494G) c.[1118A-G] (Y373C); c.[245 A-G] (K82R

PUS7 PUS10 Part B: aminoacylation AARS RARS DARS LARS MARS YARS IARS SARS VARS