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Table 1 Mutations found in the 336 NOA patients by the targeted NGS panel

From: OTOGL, a gelforming mucin protein, is nonessential for male germ cell development and spermatogenesis in mice

Gene Name mRNA ID cDNA change Mutation type NOA hits in the tested cases* Karyotype AZF mutation
OTOGL NM_001368062.3 c,412 C > T; c,901 A > G; c,1193 A > G; c,1440T > C; c,1678G > A; c,2155 C > G; c,2257G > A; c,2292G > A; Missense 8 (n = 47) 46, XY No
DOCK8 NM_203447.4 c,31G > A; c,37T > C; c,169 A > G; c,696 C > A; c,1024G > A; c,1284G > C; c,350 A > G Missense 7(n = 45) 46, XY No
GOLGA4 NM_002078.5 c,48T > C; c,411 A > C; c,452T > C; c,548T > C; c,686G > C; c,977G > A; c,1610T > C Missense 7(n = 42) 46, XY No
SALL1 NM_002968.3 c,360 A > C; c,588 A > G; c,676G > A; c,1071 C > T; c,1310 A > G Missense 5(n = 18) 46, XY No
NRAP NM_006175.5 c,393 A > G; c,846T > C; c,1044 A > G; c,1435 C > G Missense 4(n = 45) 46, XY No
SMYD4 NM_052928.3 c,697T > C; c,557 C > T; c,331 C > T; c,221T > A Missense 4(n = 17) 46, XY No
SLITRK1 NM_052910.2 c,200T > G; c,295 C > T; c,650 C > T Missense 3(n = 5) 46, XY No
COBL NM_015198.5 c,48 C > G; c,218 C > T; c,345 A > G Missense 3(n = 16) 46, XY No
ZNF214 NM_013249.4 c,390T > C; c,585T > C; c,410T > C Missense 3(n = 12) 46, XY No
LRFN2 NM_020737.3 c,266 A > C; c,572 A > C Missense 2(n = 8) 46, XY No
LRPPRC NM_133259.4 c,1087 C > T; c,1196 A > C Missense 2(n = 36) 46, XY No
OR2W3 NM_001001957.2 c,142T > C; c,207 A > G Missense 2(n = 13) 46, XY No
CCDC77 NM_032358.4 c,48T > C; c,411 A > C Missense 2(n = 11) 46, XY No
  1. NOA Non-obstructive azoospermia, AZF Azoospermia factor