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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
17863 | 2 | P/S | 2 | rs779017618 | 0.1095 | None | gnomAD-2.1.1 | 1.28E-05 | |
17863 | 2 | P/S | 2 | rs779017618 | 0.1095 | None | gnomAD-3.1.2 | 1.32E-05 | |
17863 | 2 | P/S | 2 | rs779017618 | 0.1095 | None | gnomAD-4.0.0 | 4.33387E-06 | |
17864 | 3 | T/A | 3 | rs375309278 | 0.3377 | None | gnomAD-2.1.1 | 4.27E-05 | |
17864 | 3 | T/A | 3 | rs375309278 | 0.3377 | None | gnomAD-3.1.2 | 1.11824E-04 | |
17864 | 3 | T/A | 3 | rs375309278 | 0.3377 | None | 1000 genomes | 1.99681E-04 | |
17864 | 3 | T/A | 3 | rs375309278 | 0.3377 | None | gnomAD-4.0.0 | 1.96307E-05 | |
17864 | 3 | T/K | 3 | rs373176585 | 0.3377 | None | gnomAD-4.0.0 | 7.25273E-07 | |
17865 | 4 | S/A | 4 | rs756689912 | 0.2768 | None | gnomAD-2.1.1 | 4.86E-06 | |
17865 | 4 | S/A | 4 | rs756689912 | 0.2768 | None | gnomAD-3.1.2 | 6.58E-06 | |
17865 | 4 | S/A | 4 | rs756689912 | 0.2768 | None | gnomAD-4.0.0 | 6.58042E-06 | |
17865 | 4 | S/C | 4 | rs753095229 | 0.2768 | None | gnomAD-2.1.1 | 4.85E-06 | |
17865 | 4 | S/C | 4 | rs753095229 | 0.2768 | None | gnomAD-4.0.0 | 2.16502E-06 | |
17865 | 4 | S/F | 4 | rs753095229 | 0.2768 | None | gnomAD-4.0.0 | 2.16502E-06 | |
17865 | 4 | S/T | 4 | rs756689912 | 0.2768 | None | gnomAD-2.1.1 | 9.72E-06 | |
17865 | 4 | S/T | 4 | rs756689912 | 0.2768 | None | gnomAD-3.1.2 | 1.97E-05 | |
17865 | 4 | S/T | 4 | rs756689912 | 0.2768 | None | gnomAD-4.0.0 | 1.04082E-05 | |
17866 | 5 | P/L | 5 | rs1220657053 | 0.1298 | None | gnomAD-2.1.1 | 4.75E-06 | |
17866 | 5 | P/L | 5 | rs1220657053 | 0.1298 | None | gnomAD-4.0.0 | 1.79469E-06 | |
17866 | 5 | P/T | 5 | rs897867061 | 0.1298 | None | gnomAD-2.1.1 | 1.42E-05 | |
17866 | 5 | P/T | 5 | rs897867061 | 0.1298 | None | gnomAD-3.1.2 | 1.32E-05 | |
17866 | 5 | P/T | 5 | rs897867061 | 0.1298 | None | gnomAD-4.0.0 | 1.12818E-05 | |
17868 | 7 | R/S | 7 | None | 0.7422 | None | gnomAD-4.0.0 | 1.69458E-06 | |
17869 | 8 | L/R | 9 | None | 0.1706 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17870 | 9 | T/A | 11 | rs758041223 | 0.4214 | None | gnomAD-2.1.1 | 1.71E-05 | |
17870 | 9 | T/A | 11 | rs758041223 | 0.4214 | None | gnomAD-3.1.2 | 6.58E-06 | |
17870 | 9 | T/A | 11 | rs758041223 | 0.4214 | None | gnomAD-4.0.0 | 4.4229E-06 | |
17870 | 9 | T/I | 11 | rs1553683359 | 0.4214 | None | gnomAD-4.0.0 | 6.98284E-07 | |
17870 | 9 | T/P | 11 | None | 0.4214 | None | gnomAD-4.0.0 | 6.98982E-07 | |
17871 | 10 | Y/C | 12 | None | 0.3151 | None | gnomAD-4.0.0 | 6.97927E-07 | |
17871 | 10 | Y/N | 12 | None | 0.3151 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17873 | 12 | E/G | 14 | None | 0.6956 | None | gnomAD-4.0.0 | 4.8694E-06 | |
17873 | 12 | E/Q | 14 | None | 0.6956 | None | gnomAD-4.0.0 | 3.24992E-06 | |
17874 | 13 | R/T | 15 | None | 0.1329 | None | gnomAD-4.0.0 | 1.62079E-06 | |
17875 | 14 | T/I | 16 | rs750095768 | 0.2949 | None | gnomAD-2.1.1 | 4.11E-06 | |
17877 | 16 | S/A | 18 | rs776123623 | 0.3539 | None | gnomAD-2.1.1 | 4.09E-06 | |
17877 | 16 | S/A | 18 | rs776123623 | 0.3539 | None | gnomAD-4.0.0 | 1.3761E-06 | |
17877 | 16 | S/P | 18 | rs776123623 | 0.3539 | None | gnomAD-2.1.1 | 4.09E-06 | |
17877 | 16 | S/P | 18 | rs776123623 | 0.3539 | None | gnomAD-4.0.0 | 6.88048E-07 | |
17878 | 17 | T/I | 19 | None | 0.2529 | None | gnomAD-4.0.0 | 1.60683E-06 | |
17879 | 18 | I/M | 20 | None | 0.0766 | None | gnomAD-4.0.0 | 1.60561E-06 | |
17879 | 18 | I/T | 20 | rs760585965 | 0.0766 | None | gnomAD-2.1.1 | 1.63E-05 | |
17879 | 18 | I/T | 20 | rs760585965 | 0.0766 | None | gnomAD-3.1.2 | 1.32E-05 | |
17879 | 18 | I/T | 20 | rs760585965 | 0.0766 | None | gnomAD-4.0.0 | 4.41593E-05 | |
17881 | 20 | L/F | 22 | rs771801125 | 0.1034 | None | gnomAD-2.1.1 | 4.05E-06 | |
17881 | 20 | L/F | 22 | rs771801125 | 0.1034 | None | gnomAD-4.0.0 | 6.85953E-07 | |
17881 | 20 | L/V | 22 | rs771801125 | 0.1034 | None | gnomAD-2.1.1 | 8.1E-06 | |
17881 | 20 | L/V | 22 | rs771801125 | 0.1034 | None | gnomAD-3.1.2 | 6.58E-06 | |
17881 | 20 | L/V | 22 | rs771801125 | 0.1034 | None | gnomAD-4.0.0 | 8.07554E-06 | |
17882 | 21 | D/N | 23 | None | 0.2558 | None | gnomAD-4.0.0 | 4.79926E-06 | |
17883 | 22 | W/C | 24 | rs774663244 | 0.1222 | None | gnomAD-2.1.1 | 4.04E-06 | |
17883 | 22 | W/C | 24 | rs774663244 | 0.1222 | None | gnomAD-4.0.0 | 1.59915E-06 | |
17883 | 22 | W/R | 24 | None | 0.1222 | None | gnomAD-4.0.0 | 1.59817E-06 | |
17885 | 24 | E/Q | 26 | None | 0.6404 | None | gnomAD-4.0.0 | 6.85348E-07 | |
17887 | 26 | R/C | 28 | rs771307468 | 0.7359 | None | gnomAD-4.0.0 | 1.5962E-06 | |
17887 | 26 | R/H | 28 | rs749310329 | 0.7359 | None | gnomAD-2.1.1 | 1.21E-05 | |
17887 | 26 | R/H | 28 | rs749310329 | 0.7359 | None | gnomAD-3.1.2 | 6.58E-06 | |
17887 | 26 | R/H | 28 | rs749310329 | 0.7359 | None | gnomAD-4.0.0 | 5.58507E-06 | |
17888 | 27 | S/N | 29 | rs778009539 | 0.3615 | None | gnomAD-2.1.1 | 4.04E-06 | |
17888 | 27 | S/N | 29 | rs778009539 | 0.3615 | None | gnomAD-4.0.0 | 1.61001E-06 | |
17888 | 27 | S/R | 29 | None | 0.3615 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17889 | 28 | N/H | 30 | None | 0.3525 | None | gnomAD-4.0.0 | 1.20033E-06 | |
17889 | 28 | N/S | 30 | rs1457628589 | 0.3525 | None | gnomAD-2.1.1 | 4.03E-06 | |
17889 | 28 | N/S | 30 | rs1457628589 | 0.3525 | None | gnomAD-4.0.0 | 1.6413E-06 | |
17890 | 29 | G/D | 31 | rs756643886 | 0.2015 | None | gnomAD-2.1.1 | 1.21E-05 | |
17890 | 29 | G/D | 31 | rs756643886 | 0.2015 | None | gnomAD-4.0.0 | 7.53421E-06 | |
17892 | 31 | S/C | 33 | None | 0.2086 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17892 | 31 | S/N | 33 | None | 0.2086 | None | gnomAD-4.0.0 | 1.59493E-06 | |
17892 | 31 | S/R | 33 | rs2154195662 | 0.2086 | None | gnomAD-4.0.0 | 3.60097E-06 | |
17893 | 32 | P/A | 34 | None | 0.6965 | None | gnomAD-4.0.0 | 1.59511E-06 | |
17893 | 32 | P/H | 34 | None | 0.6965 | None | gnomAD-4.0.0 | 6.84928E-07 | |
17893 | 32 | P/R | 34 | rs1576340594 | 0.6965 | None | gnomAD-4.0.0 | 6.84928E-07 | |
17893 | 32 | P/T | 34 | None | 0.6965 | None | gnomAD-4.0.0 | 1.59511E-06 | |
17894 | 33 | I/T | 35 | None | 0.2629 | None | gnomAD-4.0.0 | 1.59557E-06 | |
17894 | 33 | I/V | 35 | rs1200778787 | 0.2629 | None | gnomAD-2.1.1 | 4.03E-06 | |
17894 | 33 | I/V | 35 | rs1200778787 | 0.2629 | None | gnomAD-4.0.0 | 1.59461E-06 | |
17895 | 34 | Q/E | 36 | rs796463261 | 0.5233 | None | gnomAD-3.1.2 | 6.61E-06 | |
17895 | 34 | Q/E | 36 | rs796463261 | 0.5233 | None | gnomAD-4.0.0 | 1.32022E-05 | |
17896 | 35 | G/V | 37 | None | 0.1181 | None | gnomAD-4.0.0 | 6.92538E-06 | |
17897 | 36 | Y/C | 38 | rs937899757 | 0.1156 | None | gnomAD-2.1.1 | 4.03E-06 | |
17897 | 36 | Y/C | 38 | rs937899757 | 0.1156 | None | gnomAD-3.1.2 | 6.58E-06 | |
17897 | 36 | Y/C | 38 | rs937899757 | 0.1156 | None | gnomAD-4.0.0 | 4.34204E-06 | |
17899 | 38 | I/T | 40 | rs369723141 | 0.0680 | None | gnomAD-4.0.0 | 1.59444E-06 | |
17899 | 38 | I/V | 40 | rs1359912614 | 0.0680 | None | gnomAD-2.1.1 | 3.19E-05 | |
17899 | 38 | I/V | 40 | rs1359912614 | 0.0680 | None | gnomAD-3.1.2 | 6.6E-06 | |
17899 | 38 | I/V | 40 | rs1359912614 | 0.0680 | None | gnomAD-4.0.0 | 3.85763E-06 | |
17900 | 39 | E/Q | 41 | rs1231539821 | 0.1598 | None | gnomAD-3.1.2 | 6.63E-06 | |
17900 | 39 | E/Q | 41 | rs1231539821 | 0.1598 | None | gnomAD-4.0.0 | 6.6306E-06 | |
17901 | 40 | K/N | 42 | None | 0.1651 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17901 | 40 | K/T | 42 | None | 0.1651 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17902 | 41 | R/Q | 43 | rs781600329 | 0.2040 | None | gnomAD-2.1.1 | 3.22E-05 | |
17902 | 41 | R/Q | 43 | rs781600329 | 0.2040 | None | gnomAD-4.0.0 | 8.21778E-06 | |
17902 | 41 | R/W | 43 | rs748647255 | 0.2040 | None | gnomAD-2.1.1 | 1.07E-05 | |
17902 | 41 | R/W | 43 | rs748647255 | 0.2040 | None | gnomAD-3.1.2 | 6.6E-06 | |
17902 | 41 | R/W | 43 | rs748647255 | 0.2040 | None | gnomAD-4.0.0 | 3.72431E-06 | |
17903 | 42 | R/C | 44 | rs1016726284 | 0.2563 | None | gnomAD-2.1.1 | 1.21E-05 | |
17903 | 42 | R/C | 44 | rs1016726284 | 0.2563 | None | gnomAD-3.1.2 | 1.98E-05 | |
17903 | 42 | R/C | 44 | rs1016726284 | 0.2563 | None | gnomAD-4.0.0 | 9.92555E-06 | |
17903 | 42 | R/G | 44 | rs1016726284 | 0.2563 | None | gnomAD-3.1.2 | 6.59E-06 | |
17903 | 42 | R/G | 44 | rs1016726284 | 0.2563 | None | gnomAD-4.0.0 | 6.58657E-06 | |
17903 | 42 | R/H | 44 | rs755252821 | 0.2563 | None | gnomAD-2.1.1 | 7.15E-06 | |
17903 | 42 | R/H | 44 | rs755252821 | 0.2563 | None | gnomAD-3.1.2 | 6.6E-06 | |
17903 | 42 | R/H | 44 | rs755252821 | 0.2563 | None | gnomAD-4.0.0 | 1.67614E-05 | |
17904 | 43 | H/Q | 50 | rs2054588188 | 0.7337 | None | gnomAD-4.0.0 | 1.59435E-06 | |
17905 | 44 | D/E | 54 | rs1366977449 | 0.4738 | None | gnomAD-2.1.1 | 3.19E-05 | |
17905 | 44 | D/E | 54 | rs1366977449 | 0.4738 | None | gnomAD-3.1.2 | 6.67E-06 | |
17905 | 44 | D/E | 54 | rs1366977449 | 0.4738 | None | gnomAD-4.0.0 | 1.92498E-06 | |
17905 | 44 | D/H | 54 | rs2054587701 | 0.4738 | None | gnomAD-4.0.0 | 1.61822E-06 | |
17906 | 45 | K/R | 60 | rs727503606 | 0.5214 | None | gnomAD-2.1.1 | 8.06E-06 | |
17906 | 45 | K/R | 60 | rs727503606 | 0.5214 | None | gnomAD-3.1.2 | 1.32E-05 | |
17906 | 45 | K/R | 60 | rs727503606 | 0.5214 | None | gnomAD-4.0.0 | 8.68364E-06 | |
17908 | 47 | D/N | 64 | rs778472800 | 0.6691 | None | gnomAD-2.1.1 | 4.03E-06 | |
17909 | 48 | F/S | 65 | rs1328997528 | 0.2155 | None | gnomAD-2.1.1 | 4.03E-06 | |
17909 | 48 | F/S | 65 | rs1328997528 | 0.2155 | None | gnomAD-4.0.0 | 1.59435E-06 | |
17910 | 49 | E/Q | 66 | rs966575531 | 0.4705 | None | gnomAD-4.0.0 | 2.10121E-06 | |
17911 | 50 | R/I | 67 | rs1576339919 | 0.3218 | None | gnomAD-4.0.0 | 6.86517E-07 | |
17911 | 50 | R/K | 67 | None | 0.3218 | None | gnomAD-4.0.0 | 7.55169E-06 | |
17912 | 51 | V/F | 68 | None | 0.2367 | None | gnomAD-4.0.0 | 4.98543E-06 | |
17912 | 51 | V/L | 68 | None | 0.2367 | None | gnomAD-4.0.0 | 7.12155E-07 | |
17913 | 52 | N/I | 69 | None | 0.1183 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17914 | 53 | K/T | 70 | None | 1.0371 | None | gnomAD-4.0.0 | 2.76429E-06 | |
17915 | 54 | R/L | 72 | None | 0.9007 | None | gnomAD-4.0.0 | 1.5942E-06 | |
17915 | 54 | R/Q | 72 | rs758896047 | 0.9007 | None | gnomAD-2.1.1 | 1.61E-05 | |
17915 | 54 | R/Q | 72 | rs758896047 | 0.9007 | None | gnomAD-3.1.2 | 5.93E-05 | |
17915 | 54 | R/Q | 72 | rs758896047 | 0.9007 | None | gnomAD-4.0.0 | 2.56717E-05 | |
17916 | 55 | L/F | 75 | None | 0.2944 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17916 | 55 | L/R | 75 | rs1412322444 | 0.2944 | None | gnomAD-2.1.1 | 1.43E-05 | |
17916 | 55 | L/R | 75 | rs1412322444 | 0.2944 | None | gnomAD-3.1.2 | 3.29E-05 | |
17916 | 55 | L/R | 75 | rs1412322444 | 0.2944 | None | gnomAD-4.0.0 | 1.15497E-05 | |
17918 | 57 | P/A | 83 | rs763660329 | 0.6480 | None | gnomAD-2.1.1 | 8.06E-06 | |
17918 | 57 | P/A | 83 | rs763660329 | 0.6480 | None | gnomAD-4.0.0 | 3.18832E-06 | |
17919 | 58 | T/A | 88 | rs199605903 | 0.4891 | None | gnomAD-2.1.1 | 7.15E-06 | |
17919 | 58 | T/A | 88 | rs199605903 | 0.4891 | None | gnomAD-3.1.2 | 1.32E-05 | |
17919 | 58 | T/A | 88 | rs199605903 | 0.4891 | None | gnomAD-4.0.0 | 1.73665E-05 | |
17919 | 58 | T/I | 88 | rs1192046645 | 0.4891 | None | gnomAD-3.1.2 | 6.58E-06 | |
17919 | 58 | T/I | 88 | rs1192046645 | 0.4891 | None | gnomAD-4.0.0 | 6.58345E-06 | |
17919 | 58 | T/N | 88 | rs1192046645 | 0.4891 | None | gnomAD-3.1.2 | 6.58E-06 | |
17919 | 58 | T/N | 88 | rs1192046645 | 0.4891 | None | gnomAD-4.0.0 | 2.03044E-06 | |
17919 | 58 | T/S | 88 | None | 0.4891 | None | gnomAD-4.0.0 | 6.84742E-07 | |
17920 | 59 | T/I | 89 | None | 0.2297 | None | gnomAD-4.0.0 | 1.59419E-06 | |
17920 | 59 | T/P | 89 | rs2054577412 | 0.2297 | None | gnomAD-4.0.0 | 1.68045E-05 | |
17923 | 62 | L/P | 92 | None | 0.3950 | None | gnomAD-4.0.0 | 1.59428E-06 | |
17923 | 62 | L/R | 92 | rs2054576322 | 0.3950 | None | gnomAD-4.0.0 | 1.11599E-05 | |
17924 | 63 | V/A | 93 | rs879168076 | 0.1200 | None | gnomAD-3.1.2 | 1.97E-05 | |
17924 | 63 | V/A | 93 | rs879168076 | 0.1200 | None | gnomAD-4.0.0 | 4.96182E-06 | |
17924 | 63 | V/I | 93 | rs886916206 | 0.1200 | None | gnomAD-2.1.1 | 8.06E-06 | |
17924 | 63 | V/I | 93 | rs886916206 | 0.1200 | None | gnomAD-3.1.2 | 6.59E-06 | |
17924 | 63 | V/I | 93 | rs886916206 | 0.1200 | None | gnomAD-4.0.0 | 6.82319E-06 | |
17925 | 64 | E/A | 94 | rs1488258025 | 0.5773 | None | gnomAD-3.1.2 | 6.58E-06 | |
17925 | 64 | E/A | 94 | rs1488258025 | 0.5773 | None | gnomAD-4.0.0 | 6.57903E-06 | |
17926 | 65 | N/D | 96 | None | 0.8450 | None | gnomAD-4.0.0 | 1.59431E-06 | |
17927 | 66 | L/I | 97 | rs760629716 | 0.1089 | None | gnomAD-2.1.1 | 4.03E-06 | |
17927 | 66 | L/P | 97 | rs369678018 | 0.1089 | None | gnomAD-2.1.1 | 1.32377E-04 | |
17927 | 66 | L/P | 97 | rs369678018 | 0.1089 | None | gnomAD-3.1.2 | 8.55E-05 | |
17927 | 66 | L/P | 97 | rs369678018 | 0.1089 | None | gnomAD-4.0.0 | 1.60638E-04 | |
17927 | 66 | L/V | 97 | None | 0.1089 | None | gnomAD-4.0.0 | 1.36955E-06 | |
17928 | 67 | D/G | 98 | None | 0.4514 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17929 | 68 | E/G | 99 | None | 0.2909 | None | gnomAD-4.0.0 | 1.59432E-06 | |
17929 | 68 | E/K | 99 | rs201052994 | 0.2909 | None | gnomAD-2.1.1 | 8.06E-06 | |
17929 | 68 | E/K | 99 | rs201052994 | 0.2909 | None | gnomAD-3.1.2 | 1.98E-05 | |
17929 | 68 | E/K | 99 | rs201052994 | 0.2909 | None | gnomAD-4.0.0 | 1.0544E-05 | |
17930 | 69 | H/Q | 100 | rs1211145414 | 0.6354 | None | gnomAD-2.1.1 | 3.19E-05 | |
17930 | 69 | H/Q | 100 | rs1211145414 | 0.6354 | None | gnomAD-3.1.2 | 1.32E-05 | |
17930 | 69 | H/Q | 100 | rs1211145414 | 0.6354 | None | gnomAD-4.0.0 | 3.72164E-06 | |
17931 | 70 | Q/E | 102 | rs759208053 | 0.3428 | None | gnomAD-2.1.1 | 1.43E-05 | |
17931 | 70 | Q/E | 102 | rs759208053 | 0.3428 | None | gnomAD-3.1.2 | 3.95E-05 | |
17931 | 70 | Q/E | 102 | rs759208053 | 0.3428 | None | gnomAD-4.0.0 | 6.20302E-06 | |
17932 | 71 | M/I | 103 | rs1195735577 | 0.2578 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17932 | 71 | M/T | 103 | None | 0.2578 | None | gnomAD-4.0.0 | 6.8479E-07 | |
17933 | 72 | Y/C | 104 | rs1271497242 | 0.0998 | None | gnomAD-4.0.0 | 3.18885E-06 | |
17934 | 73 | E/K | 105 | rs774287393 | 0.1418 | None | gnomAD-2.1.1 | 4.03E-06 | |
17934 | 73 | E/K | 105 | rs774287393 | 0.1418 | None | gnomAD-4.0.0 | 1.59461E-06 | |
17936 | 75 | R/C | 107 | rs763337826 | 0.1718 | None | gnomAD-2.1.1 | 4.03E-06 | |
17936 | 75 | R/C | 107 | rs763337826 | 0.1718 | None | gnomAD-3.1.2 | 6.59E-06 | |
17936 | 75 | R/C | 107 | rs763337826 | 0.1718 | None | gnomAD-4.0.0 | 2.56818E-06 | |
17936 | 75 | R/H | 107 | rs727503604 | 0.1718 | None | gnomAD-2.1.1 | 8.95E-05 | |
17936 | 75 | R/H | 107 | rs727503604 | 0.1718 | None | gnomAD-3.1.2 | 6.59E-05 | |
17936 | 75 | R/H | 107 | rs727503604 | 0.1718 | None | gnomAD-4.0.0 | 6.1421E-05 | |
17936 | 75 | R/S | 107 | rs763337826 | 0.1718 | None | gnomAD-2.1.1 | 1.07E-05 | |
17936 | 75 | R/S | 107 | rs763337826 | 0.1718 | None | gnomAD-3.1.2 | 5.93E-05 | |
17936 | 75 | R/S | 107 | rs763337826 | 0.1718 | None | gnomAD-4.0.0 | 1.79773E-05 | |
17937 | 76 | V/D | 108 | rs1559723150 | 0.0764 | None | gnomAD-2.1.1 | 4.03E-06 | |
17937 | 76 | V/D | 108 | rs1559723150 | 0.0764 | None | gnomAD-4.0.0 | 1.59467E-06 | |
17938 | 77 | K/R | 109 | None | 0.1889 | None | gnomAD-4.0.0 | 1.59491E-06 | |
17939 | 78 | A/P | 110 | None | 0.0845 | None | gnomAD-4.0.0 | 1.59524E-06 | |
17939 | 78 | A/V | 110 | None | 0.0845 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17940 | 79 | V/A | 111 | None | 0.1721 | None | gnomAD-4.0.0 | 2.40064E-06 | |
17940 | 79 | V/I | 111 | None | 0.1721 | None | gnomAD-4.0.0 | 1.59576E-06 | |
17941 | 80 | N/D | 112 | None | 0.0947 | None | gnomAD-4.0.0 | 1.59558E-06 | |
17941 | 80 | N/I | 112 | rs75257026 | 0.0947 | None | gnomAD-2.1.1 | 4.04E-06 | |
17941 | 80 | N/I | 112 | rs75257026 | 0.0947 | None | gnomAD-4.0.0 | 1.5956E-06 | |
17941 | 80 | N/K | 112 | None | 0.0947 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17941 | 80 | N/S | 112 | None | 0.0947 | None | gnomAD-4.0.0 | 1.5956E-06 | |
17942 | 81 | E/K | 113 | rs2054564830 | 0.7474 | None | gnomAD-3.1.2 | 6.58E-06 | |
17942 | 81 | E/K | 113 | rs2054564830 | 0.7474 | None | gnomAD-4.0.0 | 2.48192E-06 | |
17943 | 82 | I/S | 114 | None | 0.4666 | None | gnomAD-4.0.0 | 6.85078E-07 | |
17943 | 82 | I/T | 114 | rs769817623 | 0.4666 | None | gnomAD-2.1.1 | 8.08E-06 | |
17943 | 82 | I/T | 114 | rs769817623 | 0.4666 | None | gnomAD-4.0.0 | 7.53586E-06 | |
17944 | 83 | G/S | 115 | rs1242126329 | 0.1887 | None | gnomAD-2.1.1 | 4.04E-06 | |
17944 | 83 | G/S | 115 | rs1242126329 | 0.1887 | None | gnomAD-4.0.0 | 1.59684E-06 | |
17945 | 84 | E/D | 117 | rs556413709 | 0.5330 | None | gnomAD-2.1.1 | 2.83E-05 | |
17945 | 84 | E/D | 117 | rs556413709 | 0.5330 | None | gnomAD-3.1.2 | 6.58E-06 | |
17945 | 84 | E/D | 117 | rs556413709 | 0.5330 | None | 1000 genomes | 1.99681E-04 | |
17945 | 84 | E/D | 117 | rs556413709 | 0.5330 | None | gnomAD-4.0.0 | 4.34399E-06 | |
17946 | 85 | S/N | 118 | rs1283273656 | 0.0938 | None | gnomAD-2.1.1 | 4.05E-06 | |
17946 | 85 | S/T | 118 | rs1283273656 | 0.0938 | None | gnomAD-2.1.1 | 8.1E-06 | |
17946 | 85 | S/T | 118 | rs1283273656 | 0.0938 | None | gnomAD-4.0.0 | 1.59761E-06 | |
17947 | 86 | E/K | 119 | rs1445321949 | 0.6526 | None | gnomAD-2.1.1 | 8.1E-06 | |
17947 | 86 | E/K | 119 | rs1445321949 | 0.6526 | None | gnomAD-3.1.2 | 6.58E-06 | |
17947 | 86 | E/K | 119 | rs1445321949 | 0.6526 | None | gnomAD-4.0.0 | 1.98681E-05 | |
17948 | 87 | P/L | 120 | None | 0.2738 | None | gnomAD-4.0.0 | 6.8575E-07 | |
17948 | 87 | P/Q | 120 | rs781513071 | 0.2738 | None | gnomAD-2.1.1 | 4.05E-06 | |
17948 | 87 | P/Q | 120 | rs781513071 | 0.2738 | None | gnomAD-4.0.0 | 2.743E-06 | |
17948 | 87 | P/T | 120 | rs2054560822 | 0.2738 | None | gnomAD-4.0.0 | 2.74208E-06 | |
17950 | 89 | L/R | 122 | rs2054558907 | 1.0863 | None | gnomAD-4.0.0 | 1.60013E-06 | |
17951 | 90 | P/R | 123 | None | 0.3898 | None | gnomAD-4.0.0 | 1.60174E-06 | |
17952 | 91 | L/I | 124 | None | 0.1789 | None | gnomAD-4.0.0 | 1.60772E-06 | |
17952 | 91 | L/R | 124 | rs1419642739 | 0.1789 | None | gnomAD-2.1.1 | 4.08E-06 | |
17952 | 91 | L/R | 124 | rs1419642739 | 0.1789 | None | gnomAD-3.1.2 | 1.32E-05 | |
17952 | 91 | L/R | 124 | rs1419642739 | 0.1789 | None | gnomAD-4.0.0 | 1.31605E-05 | |
17953 | 92 | N/D | 125 | None | 0.4687 | None | gnomAD-4.0.0 | 6.87557E-07 | |
17953 | 92 | N/K | 125 | rs769210939 | 0.4687 | None | gnomAD-2.1.1 | 2.86E-05 | |
17953 | 92 | N/K | 125 | rs769210939 | 0.4687 | None | gnomAD-4.0.0 | 4.12561E-06 | |
17953 | 92 | N/S | 125 | rs2054557053 | 0.4687 | None | gnomAD-4.0.0 | 1.20033E-06 | |
17953 | 92 | N/Y | 125 | None | 0.4687 | None | gnomAD-4.0.0 | 6.87557E-07 | |
17955 | 94 | V/A | 127 | rs747319436 | 0.3383 | None | gnomAD-3.1.2 | 6.58E-06 | |
17955 | 94 | V/A | 127 | rs747319436 | 0.3383 | None | gnomAD-4.0.0 | 3.91004E-06 | |
17956 | 95 | I/V | 129 | None | 0.0641 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17957 | 96 | Q/K | 130 | rs2054555102 | 0.3550 | None | gnomAD-4.0.0 | 6.90983E-07 | |
17958 | 97 | D/Y | 131 | None | 0.4400 | None | gnomAD-4.0.0 | 1.65127E-06 |