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. 2022 Jul 22;94(11):5225–5243. doi: 10.1002/jmv.27976

Table 2.

The list of TMPRSS2 gene variant analysis from the whole‐exome sequencing data (only the variants ≥0.003 are listed)

dbSNP‐ID c.DNA Allele frequency Coding consequence Amino acid change g1000 GnomAD GLOBAL EUR
rs140530035 c.795‐15_795‐14del, c.684‐15_684‐14del 0.449 Intronic 0.81 0.90 0.813 0.977
rs17854725 c.768T>C 0.302 Coding sequence; synonymous variant 0.36 0.47 0.339 0.458
rs422471 c.445 + 14G>A 0.286 Intronic 0.55 0.61 0.555 0.698
rs386416 c.326‐45C>G 0.267 Intronic 0.55 — 0.555 0.700
rs464431 c.1011‐52T>C 0.242 Intronic 0.87 0.96 0.874 0.980
rs112132031 c.1076‐44_1076‐43insCCCGAGGCCTTAG 0.211 Intronic 0.83 — 0.830 0.979
rs75603675 c.−57 + 99G>T, c.23G>T 0.205 Coding sequence; missense_variant p. Gly8Val 0.24 0.36 0.244 0.405
rs462321 c.1172‐115A>G 0.161 Intronic 0.58 0.68 0.578 0.784
rs462326 c.1172‐130C>G 0.135 Intronic 0.57 0.68 0.573 0.784
rs12329760 c.478G>A, c.589G>A 0.129 Coding sequence; missense_variant p. Val197Met 0.26 0.28 0.261 0.236
rs2298659 c.777C>T 0.121 Coding sequence; synonymous variant 0.20 0.25 0.209 0.230
rs458280 c.1011‐144A>C 0.120 Intronic 0.88 0.96 0.879 0.980
rs455922 c.1076‐164A>G 0.112 Intronic 0.88 0.96 0.878 0.981
rs9975014 c.683 + 93T>C 0.106 Intronic 0.26 0.25 0.262 0.254
rs734056 c.572 + 83G>T 0.100 Intronic 0.28 0.37 0.285 0.489
rs458213 c.1011‐54A>T 0.099 Intronic 0.23 0.32 0.225 0.441
rs465576 c.1076‐184G>T 0.094 Intronic 0.83 0.93 0.834 0.979
rs3787950 c.225A>G 0.083 Coding sequence; synonymous variant 0.16 0.11 0.163 0.079
rs9974933 c.683 + 122T>C 0.066 Intronic 0.26 0.25 0.262 0.254
rs429442 c.325 + 102G>A 0.063 Intronic 0.28 0.25 0.280 0.232
rs7364083 c.1011‐149C>T 0.062 Intronic 0.64 0.62 0.639 0.538
rs2838042 c.238 + 176A>G 0.058 Intronic 0.23 0.23 0.233 0.243
rs455281 c.1467 + 589C>A 0.058 Intronic 0.74 0.89 0.736 0.967
rs28524972 c.1076‐101G>C 0.054 Intronic 0.29 — 0.287 0.303
rs2094881 c.795‐288A>G, c.684‐288A>G 0.053 Intronic 0.53 0.63 0.530 0.748
rs4816720 c.445 + 2877G>A 0.053 Intronic 0.82 0.92 0.820 0.977
rs9985159 c.684‐137G>A 0.053 Intronic 0.33 0.33 0.335 0.230
rs386638 c.238 + 1236G>A 0.052 Intronic 0.84 0.95 0.844 0.976
rs2298662 c.727 + 389C>G 0.050 Intronic 0.88 0.96 0.123 0.021
rs365724 c.445 + 1099C>G 0.050 Intronic 0.56 0.62 0.555 0.715
rs112132031, rs71951459 c.1187‐43_1187‐42insCCGAGGCCTTAGT, c.1076‐44_1076‐43insCCCGAGGCCTTAG 0.049 Intronic 0.83 — 0.830 0.979
rs456016 c.1076‐279A>G 0.049 Intronic 0.87 0.96 0.874 0.981
rs4818241 c.445 + 2975T>C 0.048 Intronic 0.87 0.96 0.872 0.978
rs415731 c.126 + 983T>C 0.043 Intronic 0.71 0.70 0.714 0.651
rs2298663 c.727 + 317G>A 0.043 Intronic 0.53 0.62 0.525 0.747
rs417443 c.239‐1658T>C 0.043 Intronic 0.86 — 0.865 0.978
rs457909 c.1467 + 465C>T 0.043 Intronic 0.99 0.99 0.994 —
rs2156300 c.445 + 3565C>T 0.042 Intronic 0.87 0.96 0.872 0.978
rs138365638; rs557282706; rs869112255 c.684‐358_684‐357del, c.573‐358_573‐357del 0.042 Intronic 0.87 0.96 0.874 0.979
rs2156301 c.445 + 3372A>G 0.041 Intronic 0.87 0.96 0.871 0.978
rs402303 c.238 + 1132A>G 0.039 Intronic 0.52 0.58 0.519 0.709
rs4818240 c.445 + 3019A>G 0.038 Intronic 0.82 0.92 0.821 0.977
rs3787947 c.326‐153G>A 0.037 Intronic 0.31 0.34 0.307 0.279
rs467375 c.1075 + 168C>T 0.036 Intronic 0.22 0.32 0.223 0.441
rs7277080 c.−57 + 3608G>A 0.036 Intronic 0.23 0.35 0.230 0.369
rs55964536 c.728‐215G>A 0.035 Intronic 0.24 0.35 0.242 0.483
rs435877 c.−56‐2781C>G 0.033 Intronic 0.81 0.83 0.812 0.852
rs2410430 c.446‐3587T>C 0.033 Intronic 0.87 0.96 0.869 0.978
rs402197 c.445 + 651A>G 0.033 Intronic 0.87 0.96 0.874 0.978
rs462448 c.1172‐407A>G 0.033 Intronic 0.88 0.97 0.879 0.981
rs8131648 c.684‐587A>G 0.033 Intronic 0.56 0.64 0.555 0.744
rs429524 c.‐56‐1825C>G 0.032 Intronic 0.86 0.87 0.860 0.853
rs8131649 c.684‐590A>G 0.032 Intronic 0.56 0.64 0.555 0.746
rs2104810 c.795‐550C>T, c.684‐550C>T 0.031 Intronic 0.53 0.63 0.532 0.745
rs3819138 c.326‐54G>C 0.030 Intronic 0.069 — 0.068 0.151
rs2410429 c.446‐3519T>G 0.029 Intronic 0.62 0.74 0.620 0.744
rs461194 c.1467 + 362G>C 0.029 Intronic 0.87 0.96 0.869 0.969
rs55896064 c.1468‐118C>T 0.029 Intronic 0.078 0.13 0.078 0.133
rs5844077 insA 0.028 Upstream variant 0.78 0.74 0.779 0.730
rs417888 c.239‐1806T>C 0.028 Intronic 0.62 0.62 0.625 0.515
rs73905370 c.1468‐58T>A 0.028 Intronic 0.078 0.13 0.078 0.133
rs456298 c.*1318A>T 0.027 3′UTR variant 0.63 0.72 0.628 0.831
rs462471 c.*1593T>C 0.027 3′UTR variant 0.63 0.74 0.630 0.831
rs35899679 c.239‐1800G>T 0.026 Intronic 0.24 — 0.238 0.463
rs381179 c.445 + 2679A>G 0.026 Intronic — — 0.001 —
rs392370 c.238 + 2117T>G 0.026 Intronic 0.30 0.26 0.302 0.240
rs462574 c.*1340T>C 0.026 3′UTR variant 0.74 0.90 0.743 0.966
rs8126497 c.‐57 + 284C>T 0.026 Intronic 0.10 0.13 0.101 0.199
rs398061769 0.026 Intronic — — 0.555 0.715
rs9974589 c.1171 + 452T>G 0.025 Intronic 0.60 0.60 0.604 0.536
rs383510 c.445 + 1954A>G 0.025 Intronic 0.60 0.57 0.604 0.515
rs415918 c.445 + 445G>A 0.025 intronic 0.56 0.62 0.558 0.713
rs61735794 c.1155G>A, c.1266G>A 0.025 Coding sequence; synonymous variant 0.009 0.02 0.009 0.030
rs2298661 c.728‐219G>T 0.023 Intronic 0.27 0.26 0.268 0.230
rs365025 c.445 + 1254C>G 0.023 Intronic 0.56 0.62 0.559 0.715
rs378616 c.‐57 + 2466G>T 0.023 Intronic 0.71 0.69 0.714 0.717
rs8134203 c.684‐695G>A 0.023 Intronic 0.54 0.63 0.536 0.744
rs375408 c.445 + 717C>T 0.023 Intronic 0.88 0.96 0.877 0.979
rs456142 c.*1573A>G 0.023 3′UTR variant 0.63 0.73 0.630 0.831
rs11701576 c.56‐146T>C 0.022 Intronic 0.16 0.099 0.162 0.106
rs2070788 c.1282 + 587C>T, c.1171 + 587C>T 0.021 Intronic 0.60 0.59 0.603 0.536
rs460976 0.021 Intronic 0.87 0.96 0.872 0.968
rs4290734 c.446‐554T>C 0.020 Intronic 0.24 0.34 0.245 0.487
rs4818239 c.683 + 1024A>G 0.020 Intronic 0.30 0.39 0.302 0.502
rs8134216 c.684‐711G>A 0.020 Intronic 0.54 0.63 0.536 0.745
rs9974995 c.683 + 188G>A 0.020 Intronic 0.26 0.25 0.261 0.253
rs455045 c.126 + 1158G>A 0.020 Intronic 0.63 0.56 0.627 0.493
rs2070787 c.1282 + 446A>C, c.1171 + 446A>C 0.020 Intronic 0.29 — 0.293 0.308
rs34769294 c.238 + 2137dup 0.020 Intronic 0.24 — 0.245 0.238
rs61170417; rs67617179 c.1172‐773_1172‐772del 0.020 Intronic 0.27 0.26 0.266 0.308
rs35041537 c.239‐1849G>A 0.019 Intronic 0.24 0.34 0.240 0.463
rs4283504 0.019 Upstream variant 0.87 0.89 0.874 0.887
rs7279603 c.1172‐759A>G 0.019 Intronic 0.33 0.32 0.334 0.310
rs2298664 c.325 + 253C>G 0.018 Intronic 0.32 — 0.322 0.278
rs2298660 c.728‐210G>A 0.017 Intronic 0.26 0.27 0.259 0.201
rs56097233 c.445 + 1040_445 + 1041del 0.017 Intronic 0.56 0.61 0.555 0.715
rs62217531 c.445 + 2420G>A 0.017 Intronic 0.30 0.39 0.298 0.478
rs430915 c.238 + 1540T>C 0.017 Intronic 0.62 0.62 0.623 0.514
rs7275220 c.238 + 959C>T 0.016 Intronic 0.53 0.66 0.529 0.750
rs139374762; rs75929377 c.557‐671_557‐666delTGTCTG 0.016 Intronic 0.25 0.34 0.253 0.487
rs34624090 c.1075 + 291dup 0.015 Intronic 0.22 0.32 0.224 0.442
rs2070793 c.1282 + 998T>C, c.1171 + 998T>C 0.015 Intronic 0.33 0.32 0.332 0.309
rs57474639 c.1468‐188G>A 0.015 Intronic 0.08 0.14 0.085 0.133
rs8129713 c.‐57 + 3410A>G 0.014 Intronic 0.11 0.13 0.109 0.199
rs386818798 c.1011‐54_1011‐52delACTinsTCC 0.014 Intronic NA — —
rs2070790 c.1282 + 888C>G, c.1171 + 888C>G 0.013 Intronic 0.29 0.29 0.292 0.307
rs2070792 c.1282 + 965C>T, c.1171 + 965C>T 0.013 Intronic 0.33 0.32 0.332 0.309
rs10154090 c.239‐2203A>T 0.013 Intronic 0.30 0.33 0.298 0.273
rs11702475 c.556 + 2753G>A, c.445 + 2753G>A 0.013 Intronic 0.26 0.35 0.259 0.491
rs2298857 c.445 + 2340C>T 0.013 Intronic 0.30 0.26 0.299 0.236
rs915823 c.573‐245T>G 0.013 Intronic 0.16 0.22 0.161 0.204
rs9976780 c.446‐2706G>A 0.013 Intronic 0.56 0.61 0.561 0.723
rs928871 c.239‐1011G>A 0.012 Intronic 0.37 — 0.372 0.279
rs9636988 c.683 + 1054A>G 0.012 Intronic 0.26 0.25 0.261 0.257
rs34783969 c.446‐2109T>A 0.012 Intronic 0.26 0.35 0.257 0.488
rs11088551 0.011 Upstream variant 0.27 0.36 0.246 0.411
rs375760 c.445 + 635C>A 0.011 Intronic 0.22 0.20 0.223 0.232
rs4303795 0.011 Upstream variant 0.25 0.39 0.246 0.411
rs66575656 c.727 + 569G>A 0.011 Intronic 0.25 0.24 0.245 0.257
rs4303794 0.010 Upstream variant 0.25 0.36 0.246 0.411
rs6517669 c.239‐1416T>C 0.010 Intronic 0.37 0.39 0.369 0.278
rs7364088 c.1011‐222C>T 0.010 Intronic 0.30 0.30 0.304 0.263
rs364289 c.445 + 1456C>T 0.010 Intronic 0.30 0.26 0.308 0.224
rs8128074 0.010 Upstream variant 0.87 0.89 0.874 0.886
rs9305744 c.1076‐318C>T 0.010 Intronic 0.31 0.31 0.313 0.233
rs9977234 c.446‐3035C>A 0.010 Intronic 0.20 0.19 0.207 0.232
rs117696554 c.437‐92C>T, c.326‐92C>T 0.009 Intronic 0.008 0.019 0.008 0.028
rs2257202 c.445 + 2606A>G 0.009 Intronic 0.22 0.19 0.217 0.233
rs28548447 c.1011‐330C>T 0.009 Intronic 0.26 0.26 0.264 0.303
rs34983238 c.126 + 1049T>G 0.009 Intronic 0.058 0.08 0.058 0.117
rs61735792 c.300C>T, c.189C>T 0.009 Coding sequence variant; synonymous 0.005 0.009 0.005 0.017
rs73230068 c.1010 + 85C>G 0.009 Intronic 0.013 0.026 0.013 0.039
rs10668560, rs150454800 c.445 + 3305_445 + 3312del 0.009 Intronic NA — —
rs34561135 c.683 + 92C>T 0.009 Intronic 0.017 0.046 0.017 0.053
rs3787946 c.727 + 769C>G 0.009 Intronic 0.28 0.28 0.285 0.231
rs61299115 0.009 Upstream variant 0.25 0.36 0.246 0.411
rs9305745 c.238 + 2209G>A 0.009 Intronic 0.29 0.33 0.292 0.273
rs391099 c.239‐2259A>G 0.008 Intronic 0.30 0.27 0.304 0.240
rs56695953 c.126 + 311C>T 0.008 Intronic 0.12 0.13 0.108 0.200
rs9983252 c.445 + 2999G>C 0.008 Intronic 0.31 0.34 0.313 0.253
rs401371 c.238 + 1471C>G 0.008 Intronic 0.20 0.17 0.196 0.210
rs56066678 c.445 + 3842G>A 0.008 Intronic 0.29 0.26 0.293 0.236
rs743542 c.1425 + 151C>T 0.008 Intronic 0.15 0.10 0.149 0.063
rs918360768 c.239‐480T>C 0.008 Intronic NA — —
rs145283231 c.838 + 1237del. c.727 + 1237del 0.007 Intronic — 0.25 — —
rs2070786 c.1282 + 372A>G. c.1171 + 372A>G 0.007 Intronic 0.30 0.29 0.298 0.308
rs9983330 c.683 + 846T>C 0.007 Intronic 0.26 0.28 0.261 0.235
rs112467088 c.55 + 474T>A, c.‐57 + 605T>A 0.007 Intronic 0.19 0.28 0.186 0.281
rs11911394 c.350‐755A>G 0.007 Intronic 0.37 0.39 0.369 0.279
rs61735793 c.224C>T 0.007 Coding sequence; missense_variant p. Thr75Ile 0.003 0.009 0.003 0.008
rs62217525 c.*221G>A 0.007 3′UTR variant 0.02 0.035 0.021 0.055
rs144192191 c.839‐422_839‐419dup, c.728‐422_728‐419dup 0.007 Intronic 0.28 0.22 0.283 0.263
rs62217527 c.727 + 285G>A 0.007 Intronic 0.046 0.078 0.046 0.117
rs73230088 c.55 + 273G>T 0.007 Intronic 0.08 0.13 0.080 0.157
rs12481984 0.006 Upstream variant 0.24 0.36 0.240 0.406
rs2070789 c.1282 + 771G>A, c.1171 + 771G>A 0.006 Intronic 0.32 0.32 0.315 0.229
rs28360562 c.55 + 1751T>G 0.006 Intronic 0.06 0.08 0.057 0.117
rs34205539 c.‐56‐1430dup 0.006 Intronic 0.06 0.08 0.057 0.117
rs55704664 c.55 + 1266G>A 0.006 Intronic 0.10 0.13 0.057 0.117
rs2838043 c.‐56‐1104G>A 0.006 Intronic 0.11 0.13 0.109 0.200
rs395584 c.‐57 + 3561A>G 0.006 Intronic 0.22 0.11 0.224 0.019
rs55760462 c.127‐1701A>G 0.006 Intronic 0.16 0.24 0.165 0.239
rs61735789 c.540C>T 0.006 Coding sequence variant; synonymous 0.004 0.010 0.004 0.013
rs7283324 c.1172‐364G>A 0.006 Intronic 0.31 0.31 0.312 0.224
rs73372166 c.1467 + 623C>T 0.006 Intronic 0.13 0.18 0.133 0.136
rs2838039 c.445 + 3777A>G 0.005 Intronic 0.31 0.34 0.308 0.254
rs75756279 c.838 + 47G>A 0.005 Intronic 0.004 0.004 0.004 0.008
rs73372163 c.1467 + 669C>T 0.005 Intronic 0.13 0.18 0.132 0.136
rs73905371 c.1467 + 674G>C 0.005 Intronic 0.08 0.14 0.085 0.133
rs3761373 c.56‐406G>A 0.005 Intronic 0.16 0.10 0.163 0.106
rs460751 0.005 Intronic 0.83 0.92 0.826 0.965
rs111220497 c.838 + 1292C>T, c.727 + 1292C>T 0.004 Intronic — 0.31 — —
rs1003030 c.126 + 440T>C 0.004 Intronic 0.16 0.10 0.163 0.106
rs111220481 c.838 + 1319C>G, c.727 + 1319C>G 0.004 Intronic — 0.28 — —
rs143680939 c.*1583del 0.004 3′UTR variant 0.08 — 0.082 0.133
rs201627185 c.557‐2706delG 0.004 Intronic NA — — —
rs2187238 c.‐56‐2635A>G 0.004 Intronic 0.11 0.14 0.112 0.199
rs2838040 c.238 + 1591T>C 0.004 Intronic 0.33 0.36 0.331 0.275
rs28707508 0.004 Upstream variant 0.23 0.34 0.230 0.384
rs34256269 c.126 + 1170C>T 0.004 Intronic 0.08 0.13 0.079 0.159
rs61728255 c.727 + 1468T>C 0.004 Intronic 0.88 0.92 0.880 0.980
rs141788162 c.759C>T 0.003 Coding sequence variant; synonymous 0.002 0.004 0.002 0.003
rs199824558 c.210C>T 0.003 Coding sequence variant; synonymous 0.001 0.0002 0.001 —
rs422761 c.‐56‐877C>T 0.003 Intronic 0.22 0.11 0.225 0.019
rs61459778 c.1468‐343G>C 0.003 Intronic 0.14 0.19 0.136 0.136
rs777860329 0.003 Intronic NA — — —
rs113506821 c.795‐200G>A, c.684‐200G>A 0.003 Intronic 0.02 0.05 0.022 0.050
rs35871560 c.445 + 2741del 0.003 Intronic 0.54 — 0.536 0.680
rs56136037 c.445 + 185C>A 0.003 Intronic 0.014 0.04 0.014 0.046
rs74749793 c.55 + 4225C>A 0.003 Intronic 0.16 0.098 0.158 0.103
rs75200570 c.‐57 + 1396A>G 0.003 Intronic 0.06 0.03 0.056 0.011
rs76000363 c.*1592C>T 0.003 3′UTR variant 0.08 0.14 0.082 0.133