10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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R | P | G | P | P | V | G | P | I | K | F | E | S | V | S | A | D | Q | M | T | L | S | W | F | P | P | K | D | D | G | G | S | K | I | T | N | Y | V | I | E | K | R | E | A | N | R | K | T | W | V | H | V | S | S | E | P | K | E | C | T | Y | T | I | P | K | L | L | E | G | H | E | Y | V | F | R | I | M | A | Q | N | K | Y | G | I | G | E | P | L | D | S | E | P | E | T | A | R | N | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
18784 | 1 | R/C | 1 | rs774740211 | 0.6340 | None | gnomAD-2.1.1 | 5.61E-06 | |
18784 | 1 | R/C | 1 | rs774740211 | 0.6340 | None | gnomAD-4.0.0 | 5.11012E-06 | |
18784 | 1 | R/H | 1 | rs771284532 | 0.6340 | None | gnomAD-2.1.1 | 6.97E-05 | |
18784 | 1 | R/H | 1 | rs771284532 | 0.6340 | None | gnomAD-3.1.2 | 4.61E-05 | |
18784 | 1 | R/H | 1 | rs771284532 | 0.6340 | None | gnomAD-4.0.0 | 4.97203E-05 | |
18785 | 2 | P/L | 2 | None | 0.1247 | None | gnomAD-4.0.0 | 7.24949E-07 | |
18785 | 2 | P/R | 2 | rs749655114 | 0.1247 | None | gnomAD-2.1.1 | 2.16E-05 | |
18785 | 2 | P/R | 2 | rs749655114 | 0.1247 | None | gnomAD-3.1.2 | 1.97E-05 | |
18785 | 2 | P/R | 2 | rs749655114 | 0.1247 | None | gnomAD-4.0.0 | 1.37128E-05 | |
18787 | 4 | P/L | 4 | None | 0.3662 | None | gnomAD-4.0.0 | 7.24553E-07 | |
18787 | 4 | P/R | 4 | rs1227865413 | 0.3662 | None | gnomAD-2.1.1 | 5.38E-06 | |
18787 | 4 | P/R | 4 | rs1227865413 | 0.3662 | None | gnomAD-4.0.0 | 2.17366E-06 | |
18787 | 4 | P/S | 4 | None | 0.3662 | None | gnomAD-4.0.0 | 1.82357E-06 | |
18788 | 5 | P/S | 5 | rs1363268909 | 0.1066 | None | gnomAD-2.1.1 | 5.24E-06 | |
18788 | 5 | P/S | 5 | rs1363268909 | 0.1066 | None | gnomAD-4.0.0 | 7.18732E-06 | |
18789 | 6 | V/A | 6 | rs377635048 | 0.2997 | None | gnomAD-2.1.1 | 8.85E-06 | |
18789 | 6 | V/A | 6 | rs377635048 | 0.2997 | None | gnomAD-3.1.2 | 3.29E-05 | |
18789 | 6 | V/A | 6 | rs377635048 | 0.2997 | None | gnomAD-4.0.0 | 8.40602E-06 | |
18789 | 6 | V/G | 6 | None | 0.2997 | None | gnomAD-4.0.0 | 7.17141E-07 | |
18789 | 6 | V/M | 6 | None | 0.2997 | None | gnomAD-4.0.0 | 7.17812E-07 | |
18790 | 7 | G/R | 7 | rs768353681 | 0.4269 | None | gnomAD-2.1.1 | 5.15E-06 | |
18790 | 7 | G/R | 7 | rs768353681 | 0.4269 | None | gnomAD-4.0.0 | 7.18281E-07 | |
18792 | 9 | I/M | 9 | rs794729241 | 0.1371 | None | gnomAD-3.1.2 | 6.58E-06 | |
18792 | 9 | I/M | 9 | rs794729241 | 0.1371 | None | gnomAD-4.0.0 | 3.85881E-06 | |
18792 | 9 | I/T | 9 | rs779588814 | 0.1371 | None | gnomAD-2.1.1 | 4.98E-06 | |
18792 | 9 | I/T | 9 | rs779588814 | 0.1371 | None | gnomAD-4.0.0 | 1.42637E-06 | |
18793 | 10 | K/Q | 11 | None | 0.5489 | None | gnomAD-4.0.0 | 7.12718E-07 | |
18793 | 10 | K/R | 11 | rs570125605 | 0.5489 | None | gnomAD-3.1.2 | 6.58E-06 | |
18793 | 10 | K/R | 11 | rs570125605 | 0.5489 | None | 1000 genomes | 1.99681E-04 | |
18793 | 10 | K/R | 11 | rs570125605 | 0.5489 | None | gnomAD-4.0.0 | 6.57134E-06 | |
18794 | 11 | F/V | 12 | rs757869355 | 0.2767 | None | gnomAD-2.1.1 | 4.94E-06 | |
18794 | 11 | F/Y | 12 | rs750336579 | 0.2767 | None | gnomAD-2.1.1 | 4.92E-06 | |
18797 | 14 | V/I | 15 | rs778722684 | 0.2082 | None | gnomAD-2.1.1 | 1.44E-05 | |
18797 | 14 | V/I | 15 | rs778722684 | 0.2082 | None | gnomAD-3.1.2 | 6.58E-06 | |
18797 | 14 | V/I | 15 | rs778722684 | 0.2082 | None | gnomAD-4.0.0 | 1.09231E-05 | |
18798 | 15 | S/L | 16 | rs2052673581 | 0.1655 | None | gnomAD-3.1.2 | 6.58E-06 | |
18798 | 15 | S/L | 16 | rs2052673581 | 0.1655 | None | gnomAD-4.0.0 | 6.57678E-06 | |
18799 | 16 | A/T | 17 | rs757022353 | 0.1436 | None | gnomAD-2.1.1 | 4.92E-05 | |
18799 | 16 | A/T | 17 | rs757022353 | 0.1436 | None | gnomAD-3.1.2 | 2.63E-05 | |
18799 | 16 | A/T | 17 | rs757022353 | 0.1436 | None | gnomAD-4.0.0 | 1.0833E-05 | |
18799 | 16 | A/V | 17 | rs753746652 | 0.1436 | None | gnomAD-2.1.1 | 4.7E-06 | |
18799 | 16 | A/V | 17 | rs753746652 | 0.1436 | None | gnomAD-4.0.0 | 3.42313E-06 | |
18800 | 17 | D/Y | 18 | rs764411398 | 0.5023 | None | gnomAD-2.1.1 | 1.85E-05 | |
18800 | 17 | D/Y | 18 | rs764411398 | 0.5023 | None | gnomAD-4.0.0 | 1.69422E-06 | |
18801 | 18 | Q/H | 19 | None | 0.4311 | None | gnomAD-4.0.0 | 6.96302E-07 | |
18802 | 19 | M/I | 20 | rs2052669056 | 0.0757 | None | gnomAD-3.1.2 | 6.58E-06 | |
18802 | 19 | M/I | 20 | rs2052669056 | 0.0757 | None | gnomAD-4.0.0 | 6.95705E-07 | |
18802 | 19 | M/T | 20 | rs541240948 | 0.0757 | None | gnomAD-4.0.0 | 1.65458E-06 | |
18802 | 19 | M/V | 20 | None | 0.0757 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18804 | 21 | L/P | 22 | None | 0.1022 | None | gnomAD-4.0.0 | 1.64312E-06 | |
18805 | 22 | S/C | 23 | rs759563590 | 0.1723 | None | gnomAD-2.1.1 | 4.36E-06 | |
18805 | 22 | S/C | 23 | rs759563590 | 0.1723 | None | gnomAD-4.0.0 | 1.63838E-06 | |
18805 | 22 | S/F | 23 | rs759563590 | 0.1723 | None | gnomAD-3.1.2 | 6.58E-06 | |
18805 | 22 | S/F | 23 | rs759563590 | 0.1723 | None | gnomAD-4.0.0 | 6.57575E-06 | |
18805 | 22 | S/P | 23 | rs767581453 | 0.1723 | None | gnomAD-2.1.1 | 1.75E-05 | |
18805 | 22 | S/P | 23 | rs767581453 | 0.1723 | None | gnomAD-3.1.2 | 6.58E-06 | |
18805 | 22 | S/P | 23 | rs767581453 | 0.1723 | None | gnomAD-4.0.0 | 1.44338E-05 | |
18805 | 22 | S/Y | 23 | None | 0.1723 | None | gnomAD-4.0.0 | 1.63838E-06 | |
18806 | 23 | W/C | 24 | rs1042225014 | 0.1087 | None | gnomAD-2.1.1 | 4.34E-06 | |
18806 | 23 | W/C | 24 | rs1042225014 | 0.1087 | None | gnomAD-4.0.0 | 1.63607E-06 | |
18806 | 23 | W/L | 24 | None | 0.1087 | None | gnomAD-4.0.0 | 6.92739E-07 | |
18807 | 24 | F/L | 25 | rs2052666305 | 0.6771 | None | gnomAD-4.0.0 | 1.38371E-06 | |
18808 | 25 | P/L | 26 | rs2052664825 | 0.4422 | None | gnomAD-3.1.2 | 6.58E-06 | |
18808 | 25 | P/L | 26 | rs2052664825 | 0.4422 | None | gnomAD-4.0.0 | 8.12491E-06 | |
18808 | 25 | P/S | 26 | rs139748528 | 0.4422 | None | gnomAD-2.1.1 | 1.72E-05 | |
18808 | 25 | P/S | 26 | rs139748528 | 0.4422 | None | gnomAD-3.1.2 | 1.32E-05 | |
18808 | 25 | P/S | 26 | rs139748528 | 0.4422 | None | 1000 genomes | 3.99361E-04 | |
18808 | 25 | P/S | 26 | rs139748528 | 0.4422 | None | gnomAD-4.0.0 | 8.12465E-06 | |
18809 | 26 | P/H | 27 | None | 0.1607 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18809 | 26 | P/S | 27 | None | 0.1607 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18809 | 26 | P/T | 27 | None | 0.1607 | None | gnomAD-4.0.0 | 3.60097E-06 | |
18811 | 28 | D/G | 29 | None | 0.6343 | None | gnomAD-4.0.0 | 1.61786E-06 | |
18811 | 28 | D/N | 29 | rs2052663852 | 0.6343 | None | gnomAD-3.1.2 | 6.58E-06 | |
18811 | 28 | D/N | 29 | rs2052663852 | 0.6343 | None | gnomAD-4.0.0 | 3.12002E-06 | |
18812 | 29 | D/N | 30 | None | 0.2659 | None | gnomAD-4.0.0 | 6.88294E-07 | |
18816 | 33 | K/R | 34 | None | 0.7958 | None | gnomAD-4.0.0 | 1.60469E-06 | |
18818 | 35 | T/K | 36 | rs945270235 | 0.3330 | None | gnomAD-2.1.1 | 4.1E-06 | |
18818 | 35 | T/K | 36 | rs945270235 | 0.3330 | None | gnomAD-4.0.0 | 1.60193E-06 | |
18819 | 36 | N/K | 37 | rs1274184250 | 0.1614 | None | gnomAD-2.1.1 | 1.22E-05 | |
18819 | 36 | N/K | 37 | rs1274184250 | 0.1614 | None | gnomAD-4.0.0 | 4.801E-06 | |
18819 | 36 | N/S | 37 | rs201337786 | 0.1614 | None | gnomAD-2.1.1 | 6.9E-05 | |
18819 | 36 | N/S | 37 | rs201337786 | 0.1614 | None | gnomAD-3.1.2 | 1.25046E-04 | |
18819 | 36 | N/S | 37 | rs201337786 | 0.1614 | None | gnomAD-4.0.0 | 2.67163E-05 | |
18820 | 37 | Y/H | 38 | rs2052657245 | 0.1131 | None | gnomAD-4.0.0 | 1.60022E-06 | |
18821 | 38 | V/I | 39 | rs1576247575 | 0.1458 | None | gnomAD-3.1.2 | 6.58E-06 | |
18821 | 38 | V/I | 39 | rs1576247575 | 0.1458 | None | gnomAD-4.0.0 | 1.17994E-05 | |
18822 | 39 | I/T | 40 | rs771542159 | 0.0837 | None | gnomAD-2.1.1 | 4.07E-06 | |
18822 | 39 | I/T | 40 | rs771542159 | 0.0837 | None | gnomAD-4.0.0 | 5.48643E-06 | |
18822 | 39 | I/V | 40 | None | 0.0837 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18823 | 40 | E/K | 41 | rs745380159 | 0.1977 | None | gnomAD-2.1.1 | 7.22E-06 | |
18823 | 40 | E/K | 41 | rs745380159 | 0.1977 | None | gnomAD-3.1.2 | 6.58E-06 | |
18823 | 40 | E/K | 41 | rs745380159 | 0.1977 | None | gnomAD-4.0.0 | 1.02963E-05 | |
18825 | 42 | R/K | 43 | None | 0.2525 | None | gnomAD-4.0.0 | 6.85839E-07 | |
18825 | 42 | R/T | 43 | None | 0.2525 | None | gnomAD-4.0.0 | 2.05752E-06 | |
18827 | 44 | A/S | 50 | rs1280578786 | 0.3866 | None | gnomAD-2.1.1 | 3.19E-05 | |
18827 | 44 | A/S | 50 | rs1280578786 | 0.3866 | None | gnomAD-3.1.2 | 1.32E-05 | |
18827 | 44 | A/S | 50 | rs1280578786 | 0.3866 | None | gnomAD-4.0.0 | 1.31591E-05 | |
18827 | 44 | A/T | 50 | rs1280578786 | 0.3866 | None | gnomAD-4.0.0 | 1.37184E-06 | |
18827 | 44 | A/V | 50 | None | 0.3866 | None | gnomAD-4.0.0 | 4.8012E-06 | |
18828 | 45 | N/D | 54 | None | 0.7688 | None | gnomAD-4.0.0 | 3.60097E-06 | |
18828 | 45 | N/T | 54 | rs71423569 | 0.7688 | None | gnomAD-4.0.0 | 6.85974E-07 | |
18829 | 46 | R/G | 60 | None | 0.4895 | None | gnomAD-4.0.0 | 6.85993E-07 | |
18829 | 46 | R/K | 60 | rs1056753359 | 0.4895 | None | gnomAD-4.0.0 | 1.60175E-06 | |
18830 | 47 | K/N | 63 | rs1004119141 | 1.0177 | None | gnomAD-3.1.2 | 6.58E-06 | |
18830 | 47 | K/N | 63 | rs1004119141 | 1.0177 | None | gnomAD-4.0.0 | 2.57737E-06 | |
18831 | 48 | T/A | 64 | None | 0.7228 | None | gnomAD-4.0.0 | 6.86315E-07 | |
18831 | 48 | T/S | 64 | rs778893070 | 0.7228 | None | gnomAD-2.1.1 | 4.09E-06 | |
18831 | 48 | T/S | 64 | rs778893070 | 0.7228 | None | gnomAD-4.0.0 | 6.86315E-07 | |
18832 | 49 | W/R | 65 | rs902705564 | 0.2623 | None | gnomAD-3.1.2 | 6.58E-06 | |
18832 | 49 | W/R | 65 | rs902705564 | 0.2623 | None | gnomAD-4.0.0 | 6.57912E-06 | |
18833 | 50 | V/I | 66 | rs1553665072 | 0.4734 | None | gnomAD-4.0.0 | 1.6052E-06 | |
18834 | 51 | H/N | 67 | None | 0.4360 | None | gnomAD-4.0.0 | 1.60852E-06 | |
18836 | 53 | S/F | 69 | None | 0.1260 | None | gnomAD-4.0.0 | 1.61964E-06 | |
18837 | 54 | S/G | 70 | None | 0.2999 | None | gnomAD-4.0.0 | 1.37886E-06 | |
18839 | 56 | P/A | 77 | rs1368373679 | 0.1518 | None | gnomAD-4.0.0 | 1.38103E-06 | |
18839 | 56 | P/L | 77 | rs1170043972 | 0.1518 | None | gnomAD-2.1.1 | 4.24E-06 | |
18839 | 56 | P/L | 77 | rs1170043972 | 0.1518 | None | gnomAD-4.0.0 | 3.45487E-06 | |
18840 | 57 | K/R | 83 | rs757205392 | 0.7515 | None | gnomAD-2.1.1 | 4.29E-06 | |
18840 | 57 | K/T | 83 | rs757205392 | 0.7515 | None | gnomAD-2.1.1 | 4.29E-06 | |
18840 | 57 | K/T | 83 | rs757205392 | 0.7515 | None | gnomAD-4.0.0 | 1.63469E-06 | |
18841 | 58 | E/K | 88 | rs376621189 | 0.6498 | None | gnomAD-2.1.1 | 4.3E-06 | |
18841 | 58 | E/K | 88 | rs376621189 | 0.6498 | None | gnomAD-3.1.2 | 1.32E-05 | |
18841 | 58 | E/K | 88 | rs376621189 | 0.6498 | None | gnomAD-4.0.0 | 2.50656E-06 | |
18842 | 59 | C/G | 89 | None | 0.1167 | None | gnomAD-4.0.0 | 6.9777E-07 | |
18842 | 59 | C/R | 89 | rs371437953 | 0.1167 | None | gnomAD-2.1.1 | 8.95E-06 | |
18842 | 59 | C/R | 89 | rs371437953 | 0.1167 | None | gnomAD-3.1.2 | 6.59E-06 | |
18842 | 59 | C/R | 89 | rs371437953 | 0.1167 | None | gnomAD-4.0.0 | 1.893E-06 | |
18842 | 59 | C/Y | 89 | None | 0.1167 | None | gnomAD-4.0.0 | 6.97818E-07 | |
18843 | 60 | T/K | 90 | None | 0.4174 | None | gnomAD-2.1.1 | 9.02E-06 | |
18843 | 60 | T/K | 90 | None | 0.4174 | None | gnomAD-3.1.2 | 1.32E-05 | |
18843 | 60 | T/K | 90 | None | 0.4174 | None | gnomAD-4.0.0 | 2.52535E-06 | |
18843 | 60 | T/M | 90 | rs755999830 | 0.4174 | None | gnomAD-2.1.1 | 2.25E-05 | |
18843 | 60 | T/M | 90 | rs755999830 | 0.4174 | None | gnomAD-4.0.0 | 9.07816E-06 | |
18843 | 60 | T/R | 90 | rs755999830 | 0.4174 | None | gnomAD-2.1.1 | 4.51E-06 | |
18843 | 60 | T/R | 90 | rs755999830 | 0.4174 | None | gnomAD-4.0.0 | 1.39664E-06 | |
18845 | 62 | T/M | 92 | rs371571153 | 0.3134 | None | gnomAD-2.1.1 | 5.71E-05 | |
18845 | 62 | T/M | 92 | rs371571153 | 0.3134 | None | gnomAD-3.1.2 | 5.26E-05 | |
18845 | 62 | T/M | 92 | rs371571153 | 0.3134 | None | 1000 genomes | 1.99681E-04 | |
18845 | 62 | T/M | 92 | rs371571153 | 0.3134 | None | gnomAD-4.0.0 | 2.66673E-05 | |
18845 | 62 | T/P | 92 | rs375000725 | 0.3134 | None | gnomAD-2.1.1 | 7.71E-05 | |
18845 | 62 | T/P | 92 | rs375000725 | 0.3134 | None | gnomAD-3.1.2 | 7.24E-05 | |
18845 | 62 | T/P | 92 | rs375000725 | 0.3134 | None | gnomAD-4.0.0 | 4.50264E-05 | |
18846 | 63 | I/T | 93 | rs766906652 | 0.1074 | None | gnomAD-2.1.1 | 1.46E-05 | |
18846 | 63 | I/T | 93 | rs766906652 | 0.1074 | None | gnomAD-3.1.2 | 1.97E-05 | |
18846 | 63 | I/T | 93 | rs766906652 | 0.1074 | None | gnomAD-4.0.0 | 2.17298E-05 | |
18847 | 64 | P/A | 94 | None | 0.4253 | None | gnomAD-4.0.0 | 1.41796E-06 | |
18847 | 64 | P/H | 94 | None | 0.4253 | None | gnomAD-4.0.0 | 1.73601E-06 | |
18847 | 64 | P/S | 94 | rs763491342 | 0.4253 | None | gnomAD-2.1.1 | 9.82E-06 | |
18847 | 64 | P/S | 94 | rs763491342 | 0.4253 | None | gnomAD-4.0.0 | 1.41796E-06 | |
18848 | 65 | K/E | 96 | rs2052641171 | 0.8620 | None | gnomAD-3.1.2 | 6.58E-06 | |
18848 | 65 | K/E | 96 | rs2052641171 | 0.8620 | None | gnomAD-4.0.0 | 6.57765E-06 | |
18848 | 65 | K/R | 96 | rs879138127 | 0.8620 | None | gnomAD-3.1.2 | 6.58E-06 | |
18848 | 65 | K/R | 96 | rs879138127 | 0.8620 | None | gnomAD-4.0.0 | 6.57843E-06 | |
18850 | 67 | L/P | 98 | None | 0.5912 | None | gnomAD-4.0.0 | 1.75332E-06 | |
18851 | 68 | E/D | 99 | None | 0.5681 | None | gnomAD-4.0.0 | 1.75616E-06 | |
18851 | 68 | E/Q | 99 | rs1347369638 | 0.5681 | None | gnomAD-4.0.0 | 7.12769E-07 | |
18852 | 69 | G/V | 100 | rs1283827826 | 0.4018 | None | gnomAD-2.1.1 | 1.5E-05 | |
18852 | 69 | G/V | 100 | rs1283827826 | 0.4018 | None | gnomAD-4.0.0 | 5.29891E-06 | |
18853 | 70 | H/R | 102 | rs1348351926 | 0.3853 | None | gnomAD-2.1.1 | 5.06E-06 | |
18853 | 70 | H/R | 102 | rs1348351926 | 0.3853 | None | gnomAD-4.0.0 | 1.7729E-06 | |
18853 | 70 | H/Y | 102 | rs397517623 | 0.3853 | None | gnomAD-2.1.1 | 2.53E-05 | |
18853 | 70 | H/Y | 102 | rs397517623 | 0.3853 | None | gnomAD-3.1.2 | 2.63E-05 | |
18853 | 70 | H/Y | 102 | rs397517623 | 0.3853 | None | gnomAD-4.0.0 | 2.23496E-05 | |
18854 | 71 | E/V | 103 | None | 0.3480 | None | gnomAD-4.0.0 | 1.43365E-06 | |
18855 | 72 | Y/C | 104 | None | 0.1008 | None | gnomAD-4.0.0 | 1.80287E-06 | |
18856 | 73 | V/A | 105 | rs762168752 | 0.1361 | None | gnomAD-2.1.1 | 5.24E-06 | |
18856 | 73 | V/A | 105 | rs762168752 | 0.1361 | None | gnomAD-3.1.2 | 1.97E-05 | |
18856 | 73 | V/A | 105 | rs762168752 | 0.1361 | None | gnomAD-4.0.0 | 5.66852E-06 | |
18857 | 74 | F/C | 106 | None | 0.1047 | None | gnomAD-4.0.0 | 1.44558E-06 | |
18857 | 74 | F/L | 106 | rs771676699 | 0.1047 | None | gnomAD-2.1.1 | 5.29E-06 | |
18857 | 74 | F/L | 106 | rs771676699 | 0.1047 | None | gnomAD-3.1.2 | 6.58E-06 | |
18857 | 74 | F/L | 106 | rs771676699 | 0.1047 | None | gnomAD-4.0.0 | 1.44732E-06 | |
18857 | 74 | F/S | 106 | None | 0.1047 | None | gnomAD-4.0.0 | 7.22788E-07 | |
18858 | 75 | R/Q | 107 | rs755848019 | 0.1292 | None | gnomAD-2.1.1 | 5.42E-05 | |
18858 | 75 | R/Q | 107 | rs755848019 | 0.1292 | None | gnomAD-3.1.2 | 2.63E-05 | |
18858 | 75 | R/Q | 107 | rs755848019 | 0.1292 | None | gnomAD-4.0.0 | 6.93293E-05 | |
18859 | 76 | I/V | 108 | None | 0.0705 | None | gnomAD-4.0.0 | 1.83678E-06 | |
18860 | 77 | M/T | 109 | rs1384923019 | 0.1117 | None | gnomAD-3.1.2 | 6.58E-06 | |
18860 | 77 | M/T | 109 | rs1384923019 | 0.1117 | None | gnomAD-4.0.0 | 2.62433E-06 | |
18861 | 78 | A/S | 110 | None | 0.0968 | None | gnomAD-4.0.0 | 7.29651E-07 | |
18861 | 78 | A/T | 110 | rs368419410 | 0.0968 | None | gnomAD-2.1.1 | 4.73E-05 | |
18861 | 78 | A/T | 110 | rs368419410 | 0.0968 | None | gnomAD-3.1.2 | 3.95E-05 | |
18861 | 78 | A/T | 110 | rs368419410 | 0.0968 | None | gnomAD-4.0.0 | 5.71407E-05 | |
18862 | 79 | Q/H | 111 | None | 0.2417 | None | gnomAD-4.0.0 | 7.30315E-07 | |
18863 | 80 | N/D | 112 | rs2052631045 | 0.1007 | None | gnomAD-3.1.2 | 6.58E-06 | |
18863 | 80 | N/S | 112 | None | 0.1007 | None | gnomAD-4.0.0 | 1.86331E-06 | |
18865 | 82 | Y/C | 114 | None | 0.5679 | None | gnomAD-4.0.0 | 6.59717E-06 | |
18865 | 82 | Y/F | 114 | None | 0.5679 | None | gnomAD-4.0.0 | 7.33019E-07 | |
18865 | 82 | Y/H | 114 | rs749192204 | 0.5679 | None | gnomAD-2.1.1 | 5.68E-06 | |
18865 | 82 | Y/H | 114 | rs749192204 | 0.5679 | None | gnomAD-4.0.0 | 5.86489E-06 | |
18866 | 83 | G/C | 115 | None | 0.1695 | None | gnomAD-4.0.0 | 1.89314E-06 | |
18866 | 83 | G/D | 115 | None | 0.1695 | None | gnomAD-4.0.0 | 1.89259E-06 | |
18867 | 84 | I/F | 117 | None | 0.4084 | None | gnomAD-4.0.0 | 1.89446E-06 | |
18867 | 84 | I/T | 117 | rs1178126114 | 0.4084 | None | gnomAD-2.1.1 | 5.75E-06 | |
18867 | 84 | I/T | 117 | rs1178126114 | 0.4084 | None | gnomAD-4.0.0 | 1.89454E-06 | |
18869 | 86 | E/K | 119 | None | 0.6243 | None | gnomAD-4.0.0 | 3.68E-06 | |
18870 | 87 | P/H | 120 | rs755909878 | 0.3270 | None | gnomAD-2.1.1 | 1.74E-05 | |
18870 | 87 | P/H | 120 | rs755909878 | 0.3270 | None | gnomAD-4.0.0 | 5.70386E-06 | |
18870 | 87 | P/L | 120 | rs755909878 | 0.3270 | None | gnomAD-2.1.1 | 5.8E-06 | |
18870 | 87 | P/L | 120 | rs755909878 | 0.3270 | None | gnomAD-3.1.2 | 6.58E-06 | |
18870 | 87 | P/L | 120 | rs755909878 | 0.3270 | None | gnomAD-4.0.0 | 2.94974E-06 | |
18872 | 89 | D/N | 122 | rs747911018 | 0.3388 | None | gnomAD-2.1.1 | 4.05E-05 | |
18872 | 89 | D/N | 122 | rs747911018 | 0.3388 | None | gnomAD-3.1.2 | 1.97E-05 | |
18872 | 89 | D/N | 122 | rs747911018 | 0.3388 | None | gnomAD-4.0.0 | 1.25722E-05 | |
18873 | 90 | S/G | 123 | rs1212401338 | 0.1408 | None | gnomAD-2.1.1 | 1.17E-05 | |
18873 | 90 | S/G | 123 | rs1212401338 | 0.1408 | None | gnomAD-3.1.2 | 6.57E-06 | |
18873 | 90 | S/G | 123 | rs1212401338 | 0.1408 | None | gnomAD-4.0.0 | 2.65483E-06 | |
18873 | 90 | S/N | 123 | rs2154191135 | 0.1408 | None | gnomAD-3.1.2 | 6.58E-06 | |
18874 | 91 | E/D | 125 | None | 0.6743 | None | gnomAD-4.0.0 | 1.47445E-06 | |
18874 | 91 | E/K | 125 | rs781465190 | 0.6743 | None | gnomAD-2.1.1 | 5.87E-06 | |
18874 | 91 | E/K | 125 | rs781465190 | 0.6743 | None | gnomAD-4.0.0 | 7.38197E-07 | |
18874 | 91 | E/Q | 125 | None | 0.6743 | None | gnomAD-4.0.0 | 7.38197E-07 | |
18875 | 92 | P/S | 126 | None | 0.4381 | None | gnomAD-4.0.0 | 7.38521E-07 | |
18875 | 92 | P/T | 126 | None | 0.4381 | None | gnomAD-4.0.0 | 7.38521E-07 | |
18876 | 93 | E/G | 127 | rs2052624292 | 0.2221 | None | gnomAD-3.1.2 | 6.57E-06 | |
18876 | 93 | E/G | 127 | rs2052624292 | 0.2221 | None | gnomAD-4.0.0 | 6.57419E-06 | |
18876 | 93 | E/K | 127 | rs919241154 | 0.2221 | None | gnomAD-4.0.0 | 3.69056E-06 | |
18877 | 94 | T/R | 128 | rs755224119 | 0.2687 | None | gnomAD-2.1.1 | 5.88E-06 | |
18877 | 94 | T/R | 128 | rs755224119 | 0.2687 | None | gnomAD-3.1.2 | 6.58E-06 | |
18877 | 94 | T/R | 128 | rs755224119 | 0.2687 | None | gnomAD-4.0.0 | 2.97642E-06 | |
18878 | 95 | A/T | 130 | rs886042564 | 0.0674 | None | gnomAD-3.1.2 | 6.58E-06 | |
18878 | 95 | A/T | 130 | rs886042564 | 0.0674 | None | gnomAD-4.0.0 | 5.97801E-06 | |
18878 | 95 | A/V | 130 | rs751627987 | 0.0674 | None | gnomAD-2.1.1 | 1.18E-05 | |
18878 | 95 | A/V | 130 | rs751627987 | 0.0674 | None | gnomAD-4.0.0 | 3.6938E-06 | |
18880 | 97 | N/K | 132 | rs200544272 | 0.6398 | None | gnomAD-2.1.1 | 6.96E-05 | |
18880 | 97 | N/K | 132 | rs200544272 | 0.6398 | None | gnomAD-3.1.2 | 1.05277E-04 | |
18880 | 97 | N/K | 132 | rs200544272 | 0.6398 | None | gnomAD-4.0.0 | 1.72725E-05 | |
18880 | 97 | N/S | 132 | rs1391726501 | 0.6398 | None | gnomAD-2.1.1 | 5.95E-05 | |
18880 | 97 | N/S | 132 | rs1391726501 | 0.6398 | None | gnomAD-3.1.2 | 6.58E-05 | |
18880 | 97 | N/S | 132 | rs1391726501 | 0.6398 | None | gnomAD-4.0.0 | 2.22597E-05 |