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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
8830 | 1 | A/E | 1 | None | 0.0823 | None | gnomAD-4.0.0 | 6.86803E-07 | |
8830 | 1 | A/T | 1 | rs1358888602 | 0.0823 | None | gnomAD-2.1.1 | 3.19E-05 | |
8830 | 1 | A/T | 1 | rs1358888602 | 0.0823 | None | gnomAD-3.1.2 | 6.57E-06 | |
8830 | 1 | A/T | 1 | rs1358888602 | 0.0823 | None | gnomAD-4.0.0 | 6.57315E-06 | |
8830 | 1 | A/V | 1 | rs976129365 | 0.0823 | None | gnomAD-2.1.1 | 3.19E-05 | |
8830 | 1 | A/V | 1 | rs976129365 | 0.0823 | None | gnomAD-4.0.0 | 6.86803E-07 | |
8831 | 2 | T/A | 2 | None | 0.3328 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8832 | 3 | I/S | 3 | None | 0.1371 | None | gnomAD-4.0.0 | 1.37166E-06 | |
8832 | 3 | I/T | 3 | rs748198284 | 0.1371 | None | gnomAD-2.1.1 | 3.25E-05 | |
8832 | 3 | I/T | 3 | rs748198284 | 0.1371 | None | gnomAD-3.1.2 | 6.57E-06 | |
8832 | 3 | I/T | 3 | rs748198284 | 0.1371 | None | gnomAD-4.0.0 | 1.49047E-05 | |
8832 | 3 | I/V | 3 | rs72648989 | 0.1371 | None | gnomAD-2.1.1 | 7.57335E-04 | |
8832 | 3 | I/V | 3 | rs72648989 | 0.1371 | None | gnomAD-3.1.2 | 8.01809E-04 | |
8832 | 3 | I/V | 3 | rs72648989 | 0.1371 | None | 1000 genomes | 1.99681E-04 | |
8832 | 3 | I/V | 3 | rs72648989 | 0.1371 | None | gnomAD-4.0.0 | 1.39471E-03 | |
8833 | 4 | V/L | 4 | rs1316360664 | 0.5036 | None | gnomAD-2.1.1 | 4.07E-06 | |
8834 | 5 | E/G | 5 | None | 0.5135 | None | gnomAD-4.0.0 | 1.5988E-06 | |
8836 | 7 | P/L | 8 | None | 0.2155 | None | gnomAD-4.0.0 | 1.08029E-05 | |
8836 | 7 | P/S | 8 | rs776799144 | 0.2155 | None | gnomAD-2.1.1 | 2.03E-05 | |
8836 | 7 | P/S | 8 | rs776799144 | 0.2155 | None | gnomAD-3.1.2 | 5.92E-05 | |
8836 | 7 | P/S | 8 | rs776799144 | 0.2155 | None | gnomAD-4.0.0 | 1.36527E-05 | |
8837 | 8 | E/A | 9 | None | 0.9224 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8837 | 8 | E/D | 9 | rs1457622129 | 0.9224 | None | gnomAD-4.0.0 | 1.59607E-06 | |
8839 | 10 | I/M | 13 | None | 0.3342 | None | gnomAD-4.0.0 | 1.369E-06 | |
8839 | 10 | I/T | 13 | None | 0.3342 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8839 | 10 | I/V | 13 | None | 0.3342 | None | gnomAD-4.0.0 | 2.05351E-06 | |
8840 | 11 | K/Q | 14 | None | 0.7469 | None | gnomAD-4.0.0 | 1.59287E-06 | |
8840 | 11 | K/T | 14 | rs2077106214 | 0.7469 | None | gnomAD-3.1.2 | 6.57E-06 | |
8840 | 11 | K/T | 14 | rs2077106214 | 0.7469 | None | gnomAD-4.0.0 | 6.57013E-06 | |
8841 | 12 | V/L | 16 | rs2154297041 | 0.1718 | None | gnomAD-4.0.0 | 1.59262E-06 | |
8843 | 14 | T/M | 23 | rs72648990 | 0.4760 | None | gnomAD-2.1.1 | 3.75064E-04 | |
8843 | 14 | T/M | 23 | rs72648990 | 0.4760 | None | gnomAD-3.1.2 | 3.22186E-04 | |
8843 | 14 | T/M | 23 | rs72648990 | 0.4760 | None | gnomAD-4.0.0 | 3.81161E-04 | |
8843 | 14 | T/R | 23 | rs72648990 | 0.4760 | None | gnomAD-2.1.1 | 4.02E-06 | |
8843 | 14 | T/R | 23 | rs72648990 | 0.4760 | None | gnomAD-4.0.0 | 2.05299E-06 | |
8844 | 15 | G/R | 24 | None | 0.2933 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8846 | 17 | T/N | 26 | rs780494547 | 0.3767 | None | gnomAD-2.1.1 | 4.02E-06 | |
8846 | 17 | T/S | 26 | None | 0.3767 | None | gnomAD-4.0.0 | 1.20034E-06 | |
8847 | 18 | C/G | 28 | None | 0.1691 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8847 | 18 | C/W | 28 | None | 0.1691 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8847 | 18 | C/Y | 28 | None | 0.1691 | None | gnomAD-4.0.0 | 3.60098E-06 | |
8849 | 20 | L/F | 30 | None | 0.1543 | None | gnomAD-4.0.0 | 1.20035E-06 | |
8849 | 20 | L/W | 30 | None | 0.1543 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8850 | 21 | E/K | 31 | None | 0.5030 | None | gnomAD-4.0.0 | 6.84258E-07 | |
8850 | 21 | E/Q | 31 | rs2077103240 | 0.5030 | None | gnomAD-4.0.0 | 6.84258E-07 | |
8851 | 22 | C/G | 33 | rs558169834 | 0.0726 | None | gnomAD-2.1.1 | 3.22E-05 | |
8851 | 22 | C/G | 33 | rs558169834 | 0.0726 | None | gnomAD-3.1.2 | 2.63E-05 | |
8851 | 22 | C/G | 33 | rs558169834 | 0.0726 | None | gnomAD-4.0.0 | 7.12768E-05 | |
8851 | 22 | C/Y | 33 | rs398124444 | 0.0726 | None | gnomAD-2.1.1 | 3.19E-05 | |
8851 | 22 | C/Y | 33 | rs398124444 | 0.0726 | None | gnomAD-3.1.2 | 1.31E-05 | |
8851 | 22 | C/Y | 33 | rs398124444 | 0.0726 | None | gnomAD-4.0.0 | 4.95785E-06 | |
8852 | 23 | T/I | 34 | rs777360482 | 0.2141 | None | gnomAD-4.0.0 | 6.8426E-07 | |
8852 | 23 | T/K | 34 | rs777360482 | 0.2141 | None | gnomAD-2.1.1 | 1.21E-05 | |
8852 | 23 | T/K | 34 | rs777360482 | 0.2141 | None | gnomAD-4.0.0 | 3.4213E-06 | |
8853 | 24 | V/I | 35 | None | 0.1302 | None | gnomAD-4.0.0 | 6.84261E-07 | |
8853 | 24 | V/L | 35 | rs757381520 | 0.1302 | None | gnomAD-2.1.1 | 2.41E-05 | |
8853 | 24 | V/L | 35 | rs757381520 | 0.1302 | None | gnomAD-4.0.0 | 6.84261E-06 | |
8855 | 26 | G/S | 40 | rs752090627 | 0.1505 | None | gnomAD-2.1.1 | 4.02E-06 | |
8855 | 26 | G/S | 40 | rs752090627 | 0.1505 | None | gnomAD-4.0.0 | 1.59163E-06 | |
8855 | 26 | G/V | 40 | rs767057972 | 0.1505 | None | gnomAD-2.1.1 | 2.14E-05 | |
8855 | 26 | G/V | 40 | rs767057972 | 0.1505 | None | gnomAD-3.1.2 | 3.94E-05 | |
8855 | 26 | G/V | 40 | rs767057972 | 0.1505 | None | gnomAD-4.0.0 | 1.42543E-05 | |
8856 | 27 | T/N | 41 | rs1331657608 | 0.2729 | None | gnomAD-3.1.2 | 6.58E-06 | |
8856 | 27 | T/N | 41 | rs1331657608 | 0.2729 | None | gnomAD-4.0.0 | 6.57566E-06 | |
8857 | 28 | P/S | 42 | rs1317672432 | 0.5615 | None | gnomAD-2.1.1 | 4.02E-06 | |
8857 | 28 | P/S | 42 | rs1317672432 | 0.5615 | None | gnomAD-3.1.2 | 6.58E-06 | |
8857 | 28 | P/S | 42 | rs1317672432 | 0.5615 | None | gnomAD-4.0.0 | 3.84438E-06 | |
8858 | 29 | E/D | 43 | None | 0.9550 | None | gnomAD-4.0.0 | 1.59157E-06 | |
8858 | 29 | E/Q | 43 | rs751498825 | 0.9550 | None | gnomAD-2.1.1 | 4.02E-06 | |
8858 | 29 | E/Q | 43 | rs751498825 | 0.9550 | None | gnomAD-4.0.0 | 1.59163E-06 | |
8859 | 30 | L/I | 44 | rs1361604566 | 0.2133 | None | gnomAD-2.1.1 | 4.02E-06 | |
8859 | 30 | L/I | 44 | rs1361604566 | 0.2133 | None | gnomAD-4.0.0 | 1.59159E-06 | |
8860 | 31 | S/G | 45 | None | 0.3912 | None | gnomAD-4.0.0 | 1.59163E-06 | |
8860 | 31 | S/N | 45 | rs1240256366 | 0.3912 | None | gnomAD-3.1.2 | 1.97E-05 | |
8860 | 31 | S/N | 45 | rs1240256366 | 0.3912 | None | gnomAD-4.0.0 | 1.97184E-05 | |
8861 | 32 | T/A | 46 | rs1432990460 | 0.2817 | None | gnomAD-2.1.1 | 4.02E-06 | |
8861 | 32 | T/A | 46 | rs1432990460 | 0.2817 | None | gnomAD-4.0.0 | 1.59163E-06 | |
8861 | 32 | T/S | 46 | rs1419666616 | 0.2817 | None | gnomAD-2.1.1 | 3.19E-05 | |
8861 | 32 | T/S | 46 | rs1419666616 | 0.2817 | None | gnomAD-3.1.2 | 1.31E-05 | |
8861 | 32 | T/S | 46 | rs1419666616 | 0.2817 | None | gnomAD-4.0.0 | 1.31473E-05 | |
8863 | 34 | W/R | 48 | rs1298764368 | 0.1050 | None | gnomAD-2.1.1 | 4.02E-06 | |
8863 | 34 | W/R | 48 | rs1298764368 | 0.1050 | None | gnomAD-3.1.2 | 6.58E-06 | |
8863 | 34 | W/R | 48 | rs1298764368 | 0.1050 | None | gnomAD-4.0.0 | 1.5917E-06 | |
8864 | 35 | F/C | 49 | rs773172873 | 0.1454 | None | gnomAD-2.1.1 | 4.03E-06 | |
8864 | 35 | F/L | 49 | rs762812203 | 0.1454 | None | gnomAD-2.1.1 | 1.61E-05 | |
8864 | 35 | F/L | 49 | rs762812203 | 0.1454 | None | gnomAD-3.1.2 | 6.57E-06 | |
8864 | 35 | F/L | 49 | rs762812203 | 0.1454 | None | gnomAD-4.0.0 | 1.28148E-05 | |
8864 | 35 | F/S | 49 | rs773172873 | 0.1454 | None | gnomAD-2.1.1 | 3.19E-05 | |
8864 | 35 | F/S | 49 | rs773172873 | 0.1454 | None | gnomAD-3.1.2 | 1.31E-05 | |
8864 | 35 | F/S | 49 | rs773172873 | 0.1454 | None | gnomAD-4.0.0 | 3.04499E-06 | |
8865 | 36 | K/N | 50 | rs765507696 | 0.1325 | None | gnomAD-2.1.1 | 5.72E-05 | |
8865 | 36 | K/N | 50 | rs765507696 | 0.1325 | None | gnomAD-3.1.2 | 4.6E-05 | |
8865 | 36 | K/N | 50 | rs765507696 | 0.1325 | None | gnomAD-4.0.0 | 1.61138E-05 | |
8865 | 36 | K/R | 50 | rs1165281102 | 0.1325 | None | gnomAD-2.1.1 | 4.02E-06 | |
8865 | 36 | K/R | 50 | rs1165281102 | 0.1325 | None | gnomAD-3.1.2 | 6.57E-06 | |
8865 | 36 | K/R | 50 | rs1165281102 | 0.1325 | None | gnomAD-4.0.0 | 7.68835E-06 | |
8866 | 37 | D/E | 51 | None | 0.7072 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8866 | 37 | D/G | 51 | rs2077094217 | 0.7072 | None | gnomAD-3.1.2 | 6.57E-06 | |
8866 | 37 | D/G | 51 | rs2077094217 | 0.7072 | None | gnomAD-4.0.0 | 6.5672E-06 | |
8866 | 37 | D/N | 51 | rs2077094495 | 0.7072 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8867 | 38 | G/E | 52 | rs369142169 | 0.5242 | None | gnomAD-2.1.1 | 4.03E-06 | |
8867 | 38 | G/E | 52 | rs369142169 | 0.5242 | None | gnomAD-4.0.0 | 4.79016E-06 | |
8867 | 38 | G/R | 52 | rs762113080 | 0.5242 | None | gnomAD-2.1.1 | 2.5E-05 | |
8867 | 38 | G/R | 52 | rs762113080 | 0.5242 | None | gnomAD-3.1.2 | 1.31E-05 | |
8867 | 38 | G/R | 52 | rs762113080 | 0.5242 | None | gnomAD-4.0.0 | 5.39214E-05 | |
8868 | 39 | K/E | 55 | None | 0.7578 | None | gnomAD-4.0.0 | 1.36857E-06 | |
8868 | 39 | K/N | 55 | None | 0.7578 | None | gnomAD-4.0.0 | 1.59185E-06 | |
8868 | 39 | K/Q | 55 | rs776511625 | 0.7578 | None | gnomAD-2.1.1 | 4.02E-05 | |
8868 | 39 | K/Q | 55 | rs776511625 | 0.7578 | None | gnomAD-3.1.2 | 3.29E-05 | |
8868 | 39 | K/Q | 55 | rs776511625 | 0.7578 | None | gnomAD-4.0.0 | 2.41707E-05 | |
8869 | 40 | E/K | 56 | rs375373507 | 0.3241 | None | gnomAD-2.1.1 | 2.01E-05 | |
8869 | 40 | E/K | 56 | rs375373507 | 0.3241 | None | gnomAD-4.0.0 | 5.47442E-06 | |
8870 | 41 | L/I | 58 | None | 0.1718 | None | gnomAD-4.0.0 | 1.20032E-05 | |
8871 | 42 | T/A | 59 | rs2077092454 | 0.7437 | None | gnomAD-3.1.2 | 6.57E-06 | |
8871 | 42 | T/A | 59 | rs2077092454 | 0.7437 | None | gnomAD-4.0.0 | 6.57272E-06 | |
8873 | 44 | D/E | 73 | rs772596633 | 0.3459 | None | gnomAD-2.1.1 | 1.32209E-04 | |
8873 | 44 | D/E | 73 | rs772596633 | 0.3459 | None | gnomAD-3.1.2 | 4.6E-05 | |
8873 | 44 | D/E | 73 | rs772596633 | 0.3459 | None | gnomAD-4.0.0 | 8.07342E-05 | |
8873 | 44 | D/G | 73 | rs776032171 | 0.3459 | None | gnomAD-2.1.1 | 7.15E-06 | |
8873 | 44 | D/G | 73 | rs776032171 | 0.3459 | None | gnomAD-4.0.0 | 4.10585E-06 | |
8874 | 45 | N/K | 111 | None | 0.9777 | None | gnomAD-4.0.0 | 6.84312E-07 | |
8874 | 45 | N/S | 111 | rs1222843561 | 0.9777 | None | gnomAD-2.1.1 | 4.02E-06 | |
8874 | 45 | N/S | 111 | rs1222843561 | 0.9777 | None | gnomAD-4.0.0 | 1.59169E-06 | |
8875 | 46 | K/I | 115 | rs1472784946 | 0.1478 | None | gnomAD-3.1.2 | 1.31E-05 | |
8875 | 46 | K/I | 115 | rs1472784946 | 0.1478 | None | gnomAD-4.0.0 | 1.31463E-05 | |
8876 | 47 | Y/C | 121 | rs1307074594 | 0.1936 | None | gnomAD-2.1.1 | 4.02E-06 | |
8879 | 50 | S/G | 125 | None | 0.4507 | None | gnomAD-4.0.0 | 1.20034E-06 | |
8879 | 50 | S/I | 125 | None | 0.4507 | None | gnomAD-4.0.0 | 6.84317E-07 | |
8879 | 50 | S/N | 125 | None | 0.4507 | None | gnomAD-4.0.0 | 6.84317E-07 | |
8880 | 51 | F/C | 127 | rs397517518 | 0.3483 | None | gnomAD-3.1.2 | 6.57E-06 | |
8880 | 51 | F/C | 127 | rs397517518 | 0.3483 | None | gnomAD-4.0.0 | 2.54114E-05 | |
8881 | 52 | F/L | 130 | rs982955034 | 0.6872 | None | gnomAD-2.1.1 | 7.14E-06 | |
8881 | 52 | F/L | 130 | rs982955034 | 0.6872 | None | gnomAD-3.1.2 | 1.31E-05 | |
8881 | 52 | F/L | 130 | rs982955034 | 0.6872 | None | gnomAD-4.0.0 | 5.57812E-06 | |
8881 | 52 | F/S | 130 | None | 0.6872 | None | gnomAD-4.0.0 | 1.59173E-06 | |
8881 | 52 | F/V | 130 | rs1174332291 | 0.6872 | None | gnomAD-3.1.2 | 6.57E-06 | |
8881 | 52 | F/V | 130 | rs1174332291 | 0.6872 | None | gnomAD-4.0.0 | 9.9166E-06 | |
8882 | 53 | N/S | 131 | rs1035818414 | 0.5477 | None | gnomAD-3.1.2 | 6.57E-06 | |
8882 | 53 | N/S | 131 | rs1035818414 | 0.5477 | None | gnomAD-4.0.0 | 6.57177E-06 | |
8885 | 56 | S/A | 136 | rs2077087035 | 0.0860 | None | gnomAD-3.1.2 | 6.57E-06 | |
8885 | 56 | S/A | 136 | rs2077087035 | 0.0860 | None | gnomAD-4.0.0 | 1.8593E-06 | |
8885 | 56 | S/C | 136 | rs951646862 | 0.0860 | None | gnomAD-4.0.0 | 1.59179E-06 | |
8885 | 56 | S/F | 136 | rs951646862 | 0.0860 | None | gnomAD-4.0.0 | 1.59179E-06 | |
8885 | 56 | S/P | 136 | None | 0.0860 | None | gnomAD-4.0.0 | 2.05288E-06 | |
8886 | 57 | G/D | 137 | None | 0.1290 | None | gnomAD-4.0.0 | 2.40069E-06 | |
8886 | 57 | G/S | 137 | rs72648991 | 0.1290 | None | gnomAD-2.1.1 | 4.02E-06 | |
8886 | 57 | G/S | 137 | rs72648991 | 0.1290 | None | gnomAD-4.0.0 | 2.2582E-05 | |
8888 | 59 | K/R | 139 | None | 0.4440 | None | gnomAD-4.0.0 | 1.59166E-06 | |
8889 | 60 | I/V | 140 | rs879115210 | 0.0908 | None | gnomAD-4.0.0 | 3.60103E-06 | |
8890 | 61 | I/S | 141 | None | 0.3661 | None | gnomAD-4.0.0 | 6.84291E-07 | |
8890 | 61 | I/T | 141 | rs1343627713 | 0.3661 | None | gnomAD-2.1.1 | 8.04E-06 | |
8890 | 61 | I/T | 141 | rs1343627713 | 0.3661 | None | gnomAD-3.1.2 | 6.57E-06 | |
8890 | 61 | I/T | 141 | rs1343627713 | 0.3661 | None | gnomAD-4.0.0 | 1.85928E-06 | |
8891 | 62 | N/H | 143 | None | 0.6823 | None | gnomAD-4.0.0 | 1.59163E-06 | |
8891 | 62 | N/K | 143 | None | 0.6823 | None | gnomAD-4.0.0 | 6.84285E-07 | |
8891 | 62 | N/S | 143 | rs146057575 | 0.6823 | None | gnomAD-2.1.1 | 3.46196E-04 | |
8891 | 62 | N/S | 143 | rs146057575 | 0.6823 | None | gnomAD-3.1.2 | 3.28528E-04 | |
8891 | 62 | N/S | 143 | rs146057575 | 0.6823 | None | 1000 genomes | 1.59744E-03 | |
8891 | 62 | N/S | 143 | rs146057575 | 0.6823 | None | gnomAD-4.0.0 | 2.62133E-04 | |
8892 | 63 | V/I | 144 | rs747832107 | 0.1027 | None | gnomAD-2.1.1 | 6.43E-05 | |
8892 | 63 | V/I | 144 | rs747832107 | 0.1027 | None | gnomAD-3.1.2 | 8.54E-05 | |
8892 | 63 | V/I | 144 | rs747832107 | 0.1027 | None | gnomAD-4.0.0 | 3.844E-05 | |
8893 | 64 | A/V | 145 | rs1353521188 | 0.2316 | None | gnomAD-2.1.1 | 4.02E-06 | |
8893 | 64 | A/V | 145 | rs1353521188 | 0.2316 | None | gnomAD-4.0.0 | 1.59172E-06 | |
8894 | 65 | P/L | 146 | rs13398235 | 0.5969 | None | gnomAD-2.1.1 | 7.73921E-02 | |
8894 | 65 | P/L | 146 | rs13398235 | 0.5969 | None | gnomAD-3.1.2 | 7.94563E-02 | |
8894 | 65 | P/L | 146 | rs13398235 | 0.5969 | None | 1000 genomes | 1.11422E-01 | |
8894 | 65 | P/L | 146 | rs13398235 | 0.5969 | None | gnomAD-4.0.0 | 4.72529E-02 | |
8895 | 66 | S/N | 148 | rs752659193 | 0.5248 | None | gnomAD-2.1.1 | 4.02E-06 | |
8895 | 66 | S/N | 148 | rs752659193 | 0.5248 | None | gnomAD-3.1.2 | 1.97E-05 | |
8895 | 66 | S/N | 148 | rs752659193 | 0.5248 | None | gnomAD-4.0.0 | 6.81732E-06 | |
8895 | 66 | S/T | 148 | rs752659193 | 0.5248 | None | gnomAD-2.1.1 | 4.02E-06 | |
8895 | 66 | S/T | 148 | rs752659193 | 0.5248 | None | gnomAD-4.0.0 | 1.02644E-05 | |
8896 | 67 | D/E | 149 | rs1198151007 | 0.1726 | None | gnomAD-2.1.1 | 4.02E-06 | |
8896 | 67 | D/E | 149 | rs1198151007 | 0.1726 | None | gnomAD-4.0.0 | 1.59171E-06 | |
8896 | 67 | D/G | 149 | None | 0.1726 | None | gnomAD-4.0.0 | 1.59162E-06 | |
8897 | 68 | S/C | 151 | None | 0.2842 | None | gnomAD-4.0.0 | 1.20034E-06 | |
8898 | 69 | G/R | 152 | None | 0.2357 | None | gnomAD-4.0.0 | 1.36858E-06 | |
8898 | 69 | G/V | 152 | None | 0.2357 | None | gnomAD-4.0.0 | 1.59167E-06 | |
8899 | 70 | V/I | 153 | rs765131331 | 0.4954 | None | gnomAD-4.0.0 | 2.73712E-06 | |
8899 | 70 | V/L | 153 | rs765131331 | 0.4954 | None | gnomAD-2.1.1 | 8.04E-06 | |
8899 | 70 | V/L | 153 | rs765131331 | 0.4954 | None | gnomAD-3.1.2 | 6.57E-06 | |
8899 | 70 | V/L | 153 | rs765131331 | 0.4954 | None | gnomAD-4.0.0 | 5.57778E-06 | |
8900 | 71 | Y/D | 154 | None | 0.1235 | None | gnomAD-4.0.0 | 8.41302E-06 | |
8901 | 72 | S/C | 155 | rs1405906564 | 0.2102 | None | gnomAD-2.1.1 | 4.02E-06 | |
8901 | 72 | S/C | 155 | rs1405906564 | 0.2102 | None | gnomAD-3.1.2 | 6.57E-06 | |
8901 | 72 | S/C | 155 | rs1405906564 | 0.2102 | None | gnomAD-4.0.0 | 5.12501E-06 | |
8901 | 72 | S/G | 155 | rs1405906564 | 0.2102 | None | gnomAD-2.1.1 | 3.18E-05 | |
8901 | 72 | S/G | 155 | rs1405906564 | 0.2102 | None | gnomAD-3.1.2 | 6.57E-06 | |
8901 | 72 | S/G | 155 | rs1405906564 | 0.2102 | None | gnomAD-4.0.0 | 3.84376E-06 | |
8903 | 74 | E/Q | 157 | None | 0.2846 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8904 | 75 | V/L | 158 | None | 0.0931 | None | gnomAD-4.0.0 | 6.84283E-07 | |
8904 | 75 | V/M | 158 | None | 0.0931 | None | gnomAD-4.0.0 | 2.05285E-06 | |
8905 | 76 | Q/L | 159 | None | 0.4540 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8906 | 77 | N/K | 161 | rs776901808 | 0.1417 | None | gnomAD-2.1.1 | 4.02E-06 | |
8906 | 77 | N/K | 161 | rs776901808 | 0.1417 | None | gnomAD-4.0.0 | 1.36856E-06 | |
8906 | 77 | N/S | 161 | None | 0.1417 | None | gnomAD-4.0.0 | 1.59162E-06 | |
8907 | 78 | P/A | 162 | None | 0.7132 | None | gnomAD-2.1.1 | 4.02E-06 | |
8907 | 78 | P/A | 162 | None | 0.7132 | None | gnomAD-3.1.2 | 2.63E-05 | |
8907 | 78 | P/A | 162 | None | 0.7132 | None | gnomAD-4.0.0 | 3.09891E-06 | |
8907 | 78 | P/S | 162 | rs764261158 | 0.7132 | None | gnomAD-2.1.1 | 4.02E-06 | |
8907 | 78 | P/S | 162 | rs764261158 | 0.7132 | None | gnomAD-3.1.2 | 6.57E-06 | |
8907 | 78 | P/S | 162 | rs764261158 | 0.7132 | None | gnomAD-4.0.0 | 5.57805E-06 | |
8907 | 78 | P/T | 162 | rs764261158 | 0.7132 | None | gnomAD-4.0.0 | 4.10576E-06 | |
8908 | 79 | V/I | 163 | None | 0.3423 | None | gnomAD-4.0.0 | 1.59176E-06 | |
8910 | 81 | K/Q | 165 | rs760765484 | 0.4213 | None | gnomAD-2.1.1 | 4.02E-06 | |
8913 | 84 | C/G | 169 | rs775565721 | 0.1630 | None | gnomAD-2.1.1 | 2.01E-05 | |
8913 | 84 | C/G | 169 | rs775565721 | 0.1630 | None | gnomAD-4.0.0 | 6.84347E-06 | |
8914 | 85 | T/A | 171 | rs1387091014 | 0.5951 | None | gnomAD-2.1.1 | 4.03E-06 | |
8914 | 85 | T/A | 171 | rs1387091014 | 0.5951 | None | gnomAD-3.1.2 | 6.57E-06 | |
8914 | 85 | T/A | 171 | rs1387091014 | 0.5951 | None | gnomAD-4.0.0 | 2.56299E-06 | |
8915 | 86 | A/G | 172 | rs536974988 | 0.1564 | None | gnomAD-2.1.1 | 2.15E-05 | |
8915 | 86 | A/G | 172 | rs536974988 | 0.1564 | None | gnomAD-3.1.2 | 3.29E-05 | |
8915 | 86 | A/G | 172 | rs536974988 | 0.1564 | None | 1000 genomes | None | |
8915 | 86 | A/G | 172 | rs536974988 | 0.1564 | None | gnomAD-4.0.0 | 2.23147E-05 | |
8915 | 86 | A/V | 172 | None | 0.1564 | None | gnomAD-4.0.0 | 1.36892E-06 | |
8918 | 89 | Q/K | 175 | None | 0.5431 | None | gnomAD-4.0.0 | 3.4231E-06 | |
8918 | 89 | Q/R | 175 | rs760040495 | 0.5431 | None | gnomAD-2.1.1 | 8.07E-06 | |
8918 | 89 | Q/R | 175 | rs760040495 | 0.5431 | None | gnomAD-4.0.0 | 3.42336E-06 | |
8919 | 90 | V/D | 176 | rs1560596105 | 0.2464 | None | gnomAD-2.1.1 | 4.04E-06 | |
8919 | 90 | V/D | 176 | rs1560596105 | 0.2464 | None | gnomAD-4.0.0 | 1.59417E-06 | |
8919 | 90 | V/I | 176 | rs774905023 | 0.2464 | None | gnomAD-2.1.1 | 1.61E-05 | |
8919 | 90 | V/I | 176 | rs774905023 | 0.2464 | None | gnomAD-4.0.0 | 8.90201E-06 | |
8919 | 90 | V/L | 176 | None | 0.2464 | None | gnomAD-4.0.0 | 6.8477E-07 |