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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
25891 | 2 | P/H | 2 | rs766099071 | 0.0942 | None | gnomAD-4.0.0 | 2.73758E-06 | |
25891 | 2 | P/L | 2 | rs766099071 | 0.0942 | None | gnomAD-4.0.0 | 1.43723E-05 | |
25891 | 2 | P/R | 2 | None | 0.0942 | None | gnomAD-4.0.0 | 6.84396E-07 | |
25891 | 2 | P/S | 2 | None | 0.0942 | None | gnomAD-4.0.0 | 6.84387E-07 | |
25891 | 2 | P/T | 2 | rs1214607347 | 0.0942 | None | gnomAD-2.1.1 | 4.03E-06 | |
25891 | 2 | P/T | 2 | rs1214607347 | 0.0942 | None | gnomAD-4.0.0 | 2.73755E-06 | |
25892 | 3 | D/V | 3 | None | 0.3794 | None | gnomAD-4.0.0 | 1.20032E-06 | |
25893 | 4 | P/L | 4 | None | 0.2729 | None | gnomAD-4.0.0 | 2.0532E-06 | |
25893 | 4 | P/R | 4 | None | 0.2729 | None | gnomAD-4.0.0 | 6.84399E-07 | |
25893 | 4 | P/S | 4 | rs1462410139 | 0.2729 | None | gnomAD-2.1.1 | 2.01E-05 | |
25893 | 4 | P/S | 4 | rs1462410139 | 0.2729 | None | gnomAD-3.1.2 | 9.21E-05 | |
25893 | 4 | P/S | 4 | rs1462410139 | 0.2729 | None | gnomAD-4.0.0 | 2.43573E-05 | |
25894 | 5 | P/S | 5 | None | 0.1074 | None | gnomAD-4.0.0 | 1.20032E-06 | |
25895 | 6 | K/E | 6 | rs1706799678 | 0.5222 | None | gnomAD-4.0.0 | 1.59231E-06 | |
25895 | 6 | K/T | 6 | rs751395038 | 0.5222 | None | gnomAD-2.1.1 | 4.03E-06 | |
25895 | 6 | K/T | 6 | rs751395038 | 0.5222 | None | gnomAD-4.0.0 | 3.18459E-06 | |
25896 | 7 | G/V | 7 | rs766283033 | 0.4068 | None | gnomAD-2.1.1 | 4.43E-05 | |
25896 | 7 | G/V | 7 | rs766283033 | 0.4068 | None | gnomAD-4.0.0 | 1.11464E-05 | |
25897 | 8 | P/T | 8 | rs370103639 | 0.7800 | None | gnomAD-2.1.1 | 4.03E-06 | |
25897 | 8 | P/T | 8 | rs370103639 | 0.7800 | None | gnomAD-4.0.0 | 3.18475E-06 | |
25899 | 10 | K/E | 11 | rs1466717136 | 0.6586 | None | gnomAD-3.1.2 | 6.57E-06 | |
25899 | 10 | K/E | 11 | rs1466717136 | 0.6586 | None | gnomAD-4.0.0 | 3.84574E-06 | |
25899 | 10 | K/I | 11 | rs750227997 | 0.6586 | None | gnomAD-2.1.1 | 4.03E-06 | |
25899 | 10 | K/I | 11 | rs750227997 | 0.6586 | None | gnomAD-4.0.0 | 3.1848E-06 | |
25900 | 11 | F/S | 12 | rs1189958133 | 0.2827 | None | gnomAD-3.1.2 | 6.58E-06 | |
25900 | 11 | F/S | 12 | rs1189958133 | 0.2827 | None | gnomAD-4.0.0 | 6.57618E-06 | |
25901 | 12 | D/E | 13 | rs765603724 | 0.5818 | None | gnomAD-2.1.1 | 7.15E-06 | |
25901 | 12 | D/E | 13 | rs765603724 | 0.5818 | None | gnomAD-3.1.2 | 6.57E-06 | |
25901 | 12 | D/E | 13 | rs765603724 | 0.5818 | None | gnomAD-4.0.0 | 3.04506E-06 | |
25902 | 13 | D/E | 14 | None | 0.4648 | None | gnomAD-4.0.0 | 2.05335E-06 | |
25902 | 13 | D/N | 14 | None | 0.4648 | None | gnomAD-4.0.0 | 1.20032E-06 | |
25902 | 13 | D/V | 14 | None | 0.4648 | None | gnomAD-4.0.0 | 1.59245E-06 | |
25903 | 14 | V/D | 15 | rs764027734 | 0.2211 | None | gnomAD-2.1.1 | 1.21E-05 | |
25903 | 14 | V/D | 15 | rs764027734 | 0.2211 | None | gnomAD-4.0.0 | 1.27397E-05 | |
25903 | 14 | V/G | 15 | None | 0.2211 | None | gnomAD-4.0.0 | 1.59247E-06 | |
25903 | 14 | V/I | 15 | rs570615498 | 0.2211 | None | gnomAD-2.1.1 | 1.46659E-04 | |
25903 | 14 | V/I | 15 | rs570615498 | 0.2211 | None | gnomAD-3.1.2 | 8.55E-05 | |
25903 | 14 | V/I | 15 | rs570615498 | 0.2211 | None | 1000 genomes | 1.99681E-04 | |
25903 | 14 | V/I | 15 | rs570615498 | 0.2211 | None | gnomAD-4.0.0 | 8.80262E-05 | |
25903 | 14 | V/L | 15 | None | 0.2211 | None | gnomAD-4.0.0 | 1.36888E-06 | |
25904 | 15 | S/R | 16 | None | 0.1102 | None | gnomAD-4.0.0 | 2.40065E-06 | |
25905 | 16 | A/T | 17 | rs1019296317 | 0.1666 | None | gnomAD-2.1.1 | 6.37E-05 | |
25905 | 16 | A/T | 17 | rs1019296317 | 0.1666 | None | gnomAD-3.1.2 | 2.63E-05 | |
25905 | 16 | A/T | 17 | rs1019296317 | 0.1666 | None | gnomAD-4.0.0 | 6.41029E-06 | |
25906 | 17 | E/K | 18 | rs56341835 | 0.6431 | None | gnomAD-2.1.1 | 5.61713E-04 | |
25906 | 17 | E/K | 18 | rs56341835 | 0.6431 | None | gnomAD-3.1.2 | 5.91895E-04 | |
25906 | 17 | E/K | 18 | rs56341835 | 0.6431 | None | 1000 genomes | 1.99681E-04 | |
25906 | 17 | E/K | 18 | rs56341835 | 0.6431 | None | gnomAD-4.0.0 | 8.38711E-04 | |
25907 | 18 | S/N | 19 | None | 0.1409 | None | gnomAD-4.0.0 | 1.59253E-06 | |
25908 | 19 | I/N | 20 | None | 0.0764 | None | gnomAD-4.0.0 | 9.5822E-06 | |
25908 | 19 | I/V | 20 | None | 0.0764 | None | gnomAD-4.0.0 | 1.20033E-06 | |
25909 | 20 | T/A | 21 | None | 0.1575 | None | gnomAD-4.0.0 | 6.84454E-07 | |
25909 | 20 | T/P | 21 | None | 0.1575 | None | gnomAD-4.0.0 | 1.36891E-06 | |
25911 | 22 | S/Y | 23 | rs772557856 | 0.1626 | None | gnomAD-2.1.1 | 4.03E-06 | |
25911 | 22 | S/Y | 23 | rs772557856 | 0.1626 | None | gnomAD-4.0.0 | 1.50582E-05 | |
25912 | 23 | W/C | 24 | rs759946219 | 0.1053 | None | gnomAD-2.1.1 | 4.03E-06 | |
25912 | 23 | W/C | 24 | rs759946219 | 0.1053 | None | gnomAD-4.0.0 | 1.59264E-06 | |
25913 | 24 | N/I | 25 | None | 0.4951 | None | gnomAD-4.0.0 | 1.59264E-06 | |
25913 | 24 | N/K | 25 | None | 0.4951 | None | gnomAD-4.0.0 | 1.20033E-06 | |
25914 | 25 | P/R | 26 | rs774671830 | 0.4246 | None | gnomAD-2.1.1 | 4.03E-06 | |
25914 | 25 | P/R | 26 | rs774671830 | 0.4246 | None | gnomAD-4.0.0 | 1.59268E-06 | |
25914 | 25 | P/S | 26 | None | 0.4246 | None | gnomAD-4.0.0 | 1.20033E-06 | |
25917 | 28 | Y/H | 29 | rs370137092 | 0.2527 | None | gnomAD-2.1.1 | 3.63E-05 | |
25917 | 28 | Y/H | 29 | rs370137092 | 0.2527 | None | gnomAD-3.1.2 | 6.57E-05 | |
25917 | 28 | Y/H | 29 | rs370137092 | 0.2527 | None | gnomAD-4.0.0 | 5.14524E-05 | |
25918 | 29 | T/I | 30 | rs1484655947 | 0.2709 | None | gnomAD-2.1.1 | 8.06E-06 | |
25918 | 29 | T/I | 30 | rs1484655947 | 0.2709 | None | gnomAD-4.0.0 | 1.64272E-05 | |
25918 | 29 | T/R | 30 | None | 0.2709 | None | gnomAD-4.0.0 | 6.84466E-07 | |
25919 | 30 | G/A | 31 | rs1706772581 | 0.0634 | None | gnomAD-3.1.2 | 6.58E-06 | |
25919 | 30 | G/A | 31 | rs1706772581 | 0.0634 | None | gnomAD-4.0.0 | 6.57817E-06 | |
25919 | 30 | G/R | 31 | rs1243412494 | 0.0634 | None | gnomAD-2.1.1 | 4.03E-06 | |
25919 | 30 | G/R | 31 | rs1243412494 | 0.0634 | None | gnomAD-4.0.0 | 6.84448E-07 | |
25919 | 30 | G/W | 31 | None | 0.0634 | None | gnomAD-4.0.0 | 3.42224E-06 | |
25920 | 31 | G/A | 32 | rs1215844222 | 0.2741 | None | gnomAD-2.1.1 | 4.03E-06 | |
25920 | 31 | G/A | 32 | rs1215844222 | 0.2741 | None | gnomAD-4.0.0 | 1.59247E-06 | |
25920 | 31 | G/D | 32 | None | 0.2741 | None | gnomAD-4.0.0 | 1.59247E-06 | |
25922 | 33 | Q/R | 34 | None | 0.8439 | None | gnomAD-4.0.0 | 1.20032E-06 | |
25923 | 34 | I/M | 35 | rs780766847 | 0.1470 | None | gnomAD-2.1.1 | 4.03E-06 | |
25923 | 34 | I/M | 35 | rs780766847 | 0.1470 | None | gnomAD-4.0.0 | 6.84418E-07 | |
25923 | 34 | I/T | 35 | rs1706767916 | 0.1470 | None | gnomAD-3.1.2 | 6.57E-06 | |
25923 | 34 | I/T | 35 | rs1706767916 | 0.1470 | None | gnomAD-4.0.0 | 6.5741E-06 | |
25925 | 36 | N/T | 37 | rs1048567784 | 0.1558 | None | gnomAD-2.1.1 | 4.03E-06 | |
25925 | 36 | N/T | 37 | rs1048567784 | 0.1558 | None | gnomAD-4.0.0 | 3.18464E-06 | |
25926 | 37 | Y/C | 38 | rs1706759391 | 0.0942 | None | gnomAD-3.1.2 | 6.58E-06 | |
25926 | 37 | Y/C | 38 | rs1706759391 | 0.0942 | None | gnomAD-4.0.0 | 5.12655E-06 | |
25926 | 37 | Y/H | 38 | rs767986866 | 0.0942 | None | gnomAD-2.1.1 | 1.21E-05 | |
25926 | 37 | Y/H | 38 | rs767986866 | 0.0942 | None | gnomAD-3.1.2 | 6.57E-06 | |
25926 | 37 | Y/H | 38 | rs767986866 | 0.0942 | None | gnomAD-4.0.0 | 6.19864E-06 | |
25927 | 38 | I/L | 39 | rs780196850 | 0.1570 | None | gnomAD-2.1.1 | 1.79E-05 | |
25927 | 38 | I/L | 39 | rs780196850 | 0.1570 | None | gnomAD-3.1.2 | 1.31E-05 | |
25927 | 38 | I/L | 39 | rs780196850 | 0.1570 | None | gnomAD-4.0.0 | 4.52491E-05 | |
25927 | 38 | I/M | 39 | rs1226545466 | 0.1570 | None | gnomAD-2.1.1 | 8.05E-06 | |
25927 | 38 | I/M | 39 | rs1226545466 | 0.1570 | None | gnomAD-3.1.2 | 6.57E-06 | |
25927 | 38 | I/M | 39 | rs1226545466 | 0.1570 | None | gnomAD-4.0.0 | 1.11574E-05 | |
25927 | 38 | I/T | 39 | rs905403082 | 0.1570 | None | gnomAD-2.1.1 | 4.03E-06 | |
25927 | 38 | I/T | 39 | rs905403082 | 0.1570 | None | gnomAD-4.0.0 | 2.05314E-06 | |
25927 | 38 | I/V | 39 | rs780196850 | 0.1570 | None | gnomAD-2.1.1 | 2.14E-05 | |
25927 | 38 | I/V | 39 | rs780196850 | 0.1570 | None | gnomAD-3.1.2 | 2.63E-05 | |
25927 | 38 | I/V | 39 | rs780196850 | 0.1570 | None | gnomAD-4.0.0 | 1.98352E-05 | |
25928 | 39 | V/I | 40 | None | 0.0843 | None | gnomAD-4.0.0 | 2.40064E-06 | |
25929 | 40 | Q/E | 41 | rs758386212 | 0.1585 | None | gnomAD-2.1.1 | 4.03E-06 | |
25929 | 40 | Q/E | 41 | rs758386212 | 0.1585 | None | gnomAD-4.0.0 | 2.05317E-06 | |
25929 | 40 | Q/H | 41 | rs1435821903 | 0.1585 | None | gnomAD-2.1.1 | 4.02E-06 | |
25929 | 40 | Q/H | 41 | rs1435821903 | 0.1585 | None | gnomAD-4.0.0 | 1.5922E-06 | |
25929 | 40 | Q/R | 41 | rs750283007 | 0.1585 | None | gnomAD-2.1.1 | 7.15E-06 | |
25929 | 40 | Q/R | 41 | rs750283007 | 0.1585 | None | gnomAD-3.1.2 | 6.57E-06 | |
25929 | 40 | Q/R | 41 | rs750283007 | 0.1585 | None | gnomAD-4.0.0 | 2.56345E-06 | |
25930 | 41 | K/E | 42 | rs1706751422 | 0.2617 | None | gnomAD-3.1.2 | 6.57E-06 | |
25930 | 41 | K/E | 42 | rs1706751422 | 0.2617 | None | gnomAD-4.0.0 | 3.045E-06 | |
25930 | 41 | K/T | 42 | rs397517711 | 0.2617 | None | gnomAD-4.0.0 | 1.59218E-06 | |
25932 | 43 | D/E | 44 | None | 0.2947 | None | gnomAD-4.0.0 | 1.36874E-06 | |
25932 | 43 | D/G | 44 | None | 0.2947 | None | gnomAD-4.0.0 | 1.59211E-06 | |
25932 | 43 | D/N | 44 | rs778532395 | 0.2947 | None | gnomAD-2.1.1 | 1.21E-05 | |
25932 | 43 | D/N | 44 | rs778532395 | 0.2947 | None | gnomAD-4.0.0 | 2.73748E-06 | |
25932 | 43 | D/Y | 44 | None | 0.2947 | None | gnomAD-4.0.0 | 6.8437E-07 | |
25933 | 44 | T/K | 50 | rs1475741583 | 0.2986 | None | gnomAD-3.1.2 | 6.58E-06 | |
25933 | 44 | T/K | 50 | rs1475741583 | 0.2986 | None | gnomAD-4.0.0 | 2.47943E-06 | |
25935 | 46 | T/S | 60 | None | 0.3261 | None | gnomAD-4.0.0 | 1.20032E-06 | |
25936 | 47 | T/R | 63 | rs533763128 | 0.8050 | None | gnomAD-3.1.2 | 6.58E-06 | |
25936 | 47 | T/R | 63 | rs533763128 | 0.8050 | None | 1000 genomes | 1.99681E-04 | |
25936 | 47 | T/R | 63 | rs533763128 | 0.8050 | None | gnomAD-4.0.0 | 6.56996E-06 | |
25937 | 48 | V/A | 64 | None | 0.6452 | None | gnomAD-4.0.0 | 1.59202E-06 | |
25937 | 48 | V/I | 64 | None | 0.6452 | None | gnomAD-4.0.0 | 3.18408E-06 | |
25938 | 49 | W/R | 65 | rs1052501136 | 0.2119 | None | gnomAD-2.1.1 | 8.05E-06 | |
25938 | 49 | W/R | 65 | rs1052501136 | 0.2119 | None | gnomAD-3.1.2 | 6.57E-06 | |
25938 | 49 | W/R | 65 | rs1052501136 | 0.2119 | None | gnomAD-4.0.0 | 6.84346E-07 | |
25938 | 49 | W/S | 65 | rs186681106 | 0.2119 | None | gnomAD-2.1.1 | 6.46692E-04 | |
25938 | 49 | W/S | 65 | rs186681106 | 0.2119 | None | gnomAD-3.1.2 | 1.20991E-03 | |
25938 | 49 | W/S | 65 | rs186681106 | 0.2119 | None | 1000 genomes | 1.59744E-03 | |
25938 | 49 | W/S | 65 | rs186681106 | 0.2119 | None | gnomAD-4.0.0 | 3.59481E-04 | |
25939 | 50 | D/A | 66 | rs397517712 | 0.5923 | None | gnomAD-2.1.1 | 2.14E-05 | |
25939 | 50 | D/A | 66 | rs397517712 | 0.5923 | None | gnomAD-3.1.2 | 3.29E-05 | |
25939 | 50 | D/A | 66 | rs397517712 | 0.5923 | None | gnomAD-4.0.0 | 4.71075E-05 | |
25939 | 50 | D/E | 66 | None | 0.5923 | None | gnomAD-4.0.0 | 6.84336E-07 | |
25940 | 51 | V/I | 67 | None | 0.4315 | None | gnomAD-4.0.0 | 1.59195E-06 | |
25941 | 52 | V/I | 68 | rs928158833 | 0.2789 | None | gnomAD-3.1.2 | 6.58E-06 | |
25941 | 52 | V/I | 68 | rs928158833 | 0.2789 | None | gnomAD-4.0.0 | 3.04526E-06 | |
25944 | 55 | T/A | 75 | None | 0.7052 | None | gnomAD-4.0.0 | 1.59192E-06 | |
25945 | 56 | V/A | 77 | rs1266064359 | 0.1144 | None | gnomAD-2.1.1 | 8.04E-06 | |
25945 | 56 | V/A | 77 | rs1266064359 | 0.1144 | None | gnomAD-3.1.2 | 6.58E-06 | |
25945 | 56 | V/A | 77 | rs1266064359 | 0.1144 | None | gnomAD-4.0.0 | 6.81817E-06 | |
25946 | 57 | A/T | 83 | rs1559369489 | 0.5662 | None | gnomAD-4.0.0 | 4.79048E-06 | |
25946 | 57 | A/V | 83 | rs1706728801 | 0.5662 | None | gnomAD-3.1.2 | 6.58E-06 | |
25946 | 57 | A/V | 83 | rs1706728801 | 0.5662 | None | gnomAD-4.0.0 | 6.57644E-06 | |
25947 | 58 | R/G | 88 | rs369737926 | 0.7129 | None | gnomAD-2.1.1 | 4.02E-06 | |
25947 | 58 | R/G | 88 | rs369737926 | 0.7129 | None | gnomAD-4.0.0 | 3.60098E-06 | |
25947 | 58 | R/S | 88 | rs1706725757 | 0.7129 | None | gnomAD-3.1.2 | 6.57E-06 | |
25947 | 58 | R/S | 88 | rs1706725757 | 0.7129 | None | gnomAD-4.0.0 | 3.09903E-06 | |
25949 | 60 | T/I | 90 | rs1706723806 | 0.3122 | None | gnomAD-3.1.2 | 6.58E-06 | |
25949 | 60 | T/I | 90 | rs1706723806 | 0.3122 | None | gnomAD-4.0.0 | 6.57523E-06 | |
25950 | 61 | L/F | 91 | rs376814602 | 0.1977 | None | gnomAD-2.1.1 | 1.74974E-04 | |
25950 | 61 | L/F | 91 | rs376814602 | 0.1977 | None | gnomAD-3.1.2 | 1.97285E-04 | |
25950 | 61 | L/F | 91 | rs376814602 | 0.1977 | None | 1000 genomes | 5.99042E-04 | |
25950 | 61 | L/F | 91 | rs376814602 | 0.1977 | None | gnomAD-4.0.0 | 6.44565E-05 | |
25950 | 61 | L/I | 91 | None | 0.1977 | None | gnomAD-4.0.0 | 6.84317E-07 | |
25950 | 61 | L/V | 91 | rs376814602 | 0.1977 | None | gnomAD-2.1.1 | 4.02E-06 | |
25950 | 61 | L/V | 91 | rs376814602 | 0.1977 | None | gnomAD-4.0.0 | 2.05295E-06 | |
25952 | 63 | V/A | 93 | None | 0.1228 | None | gnomAD-4.0.0 | 1.59176E-06 | |
25954 | 65 | K/Q | 96 | rs776215265 | 0.9104 | None | gnomAD-2.1.1 | 4.02E-06 | |
25954 | 65 | K/Q | 96 | rs776215265 | 0.9104 | None | gnomAD-4.0.0 | 1.20032E-06 | |
25957 | 68 | T/I | 99 | rs372165943 | 0.5359 | None | gnomAD-2.1.1 | 4.02E-06 | |
25957 | 68 | T/I | 99 | rs372165943 | 0.5359 | None | gnomAD-3.1.2 | 1.32E-05 | |
25957 | 68 | T/I | 99 | rs372165943 | 0.5359 | None | gnomAD-4.0.0 | 3.84461E-06 | |
25958 | 69 | G/D | 100 | rs879174385 | 0.4224 | None | gnomAD-3.1.2 | 6.58E-06 | |
25958 | 69 | G/D | 100 | rs879174385 | 0.4224 | None | gnomAD-4.0.0 | 6.57808E-06 | |
25958 | 69 | G/V | 100 | None | 0.4224 | None | gnomAD-4.0.0 | 1.59174E-06 | |
25959 | 70 | T/I | 102 | rs746565128 | 0.2275 | None | gnomAD-3.1.2 | 6.58E-06 | |
25959 | 70 | T/I | 102 | rs746565128 | 0.2275 | None | gnomAD-4.0.0 | 6.57765E-06 | |
25959 | 70 | T/K | 102 | None | 0.2275 | None | gnomAD-4.0.0 | 1.20034E-06 | |
25959 | 70 | T/R | 102 | rs746565128 | 0.2275 | None | gnomAD-2.1.1 | 4.02E-06 | |
25959 | 70 | T/R | 102 | rs746565128 | 0.2275 | None | gnomAD-4.0.0 | 1.20034E-06 | |
25960 | 71 | E/K | 103 | rs367624488 | 0.3019 | None | gnomAD-2.1.1 | 8.57E-05 | |
25960 | 71 | E/K | 103 | rs367624488 | 0.3019 | None | gnomAD-3.1.2 | 2.56505E-04 | |
25960 | 71 | E/K | 103 | rs367624488 | 0.3019 | None | gnomAD-4.0.0 | 4.95855E-05 | |
25961 | 72 | Y/D | 104 | rs772167869 | 0.1374 | None | gnomAD-2.1.1 | 4.02E-06 | |
25961 | 72 | Y/D | 104 | rs772167869 | 0.1374 | None | gnomAD-4.0.0 | 1.59175E-06 | |
25964 | 75 | R/G | 107 | rs745748153 | 0.1469 | None | gnomAD-2.1.1 | 4.02E-06 | |
25964 | 75 | R/G | 107 | rs745748153 | 0.1469 | None | gnomAD-4.0.0 | 3.18347E-06 | |
25966 | 77 | F/L | 109 | None | 0.1424 | None | gnomAD-4.0.0 | 1.20032E-06 | |
25968 | 79 | E/K | 111 | rs756933390 | 0.2668 | None | gnomAD-2.1.1 | 1.61E-05 | |
25968 | 79 | E/K | 111 | rs756933390 | 0.2668 | None | gnomAD-4.0.0 | 1.98445E-05 | |
25969 | 80 | N/S | 112 | rs1307235516 | 0.0890 | None | gnomAD-2.1.1 | 4.02E-06 | |
25969 | 80 | N/S | 112 | rs1307235516 | 0.0890 | None | gnomAD-4.0.0 | 3.18339E-06 | |
25970 | 81 | R/K | 113 | rs1356017017 | 0.5173 | None | gnomAD-2.1.1 | 4.02E-06 | |
25970 | 81 | R/K | 113 | rs1356017017 | 0.5173 | None | gnomAD-4.0.0 | 1.5917E-06 | |
25971 | 82 | Y/H | 114 | rs1432174919 | 0.3025 | None | gnomAD-2.1.1 | 4.02E-06 | |
25971 | 82 | Y/H | 114 | rs1432174919 | 0.3025 | None | gnomAD-4.0.0 | 1.02644E-05 | |
25972 | 83 | G/E | 115 | rs752809281 | 0.2043 | None | gnomAD-2.1.1 | 4.02E-06 | |
25972 | 83 | G/E | 115 | rs752809281 | 0.2043 | None | gnomAD-4.0.0 | 1.59173E-06 | |
25973 | 84 | Q/L | 117 | rs1481076140 | 0.3534 | None | gnomAD-2.1.1 | 4.02E-06 | |
25973 | 84 | Q/L | 117 | rs1481076140 | 0.3534 | None | gnomAD-4.0.0 | 3.18343E-06 | |
25978 | 89 | E/D | 122 | rs1025712241 | 0.4743 | None | gnomAD-3.1.2 | 6.58E-06 | |
25978 | 89 | E/D | 122 | rs1025712241 | 0.4743 | None | gnomAD-4.0.0 | 6.57886E-06 | |
25978 | 89 | E/G | 122 | None | 0.4743 | None | gnomAD-4.0.0 | 1.20032E-06 | |
25978 | 89 | E/Q | 122 | rs767541275 | 0.4743 | None | gnomAD-2.1.1 | 8.04E-06 | |
25978 | 89 | E/Q | 122 | rs767541275 | 0.4743 | None | gnomAD-3.1.2 | 6.58E-06 | |
25978 | 89 | E/Q | 122 | rs767541275 | 0.4743 | None | gnomAD-4.0.0 | 7.68984E-06 | |
25979 | 90 | S/A | 123 | None | 0.1287 | None | gnomAD-4.0.0 | 1.59169E-06 | |
25979 | 90 | S/F | 123 | None | 0.1287 | None | gnomAD-4.0.0 | 1.59171E-06 | |
25980 | 91 | D/E | 124 | rs977275961 | 0.8193 | None | gnomAD-2.1.1 | 3.19E-05 | |
25980 | 91 | D/E | 124 | rs977275961 | 0.8193 | None | gnomAD-3.1.2 | 1.32E-05 | |
25980 | 91 | D/E | 124 | rs977275961 | 0.8193 | None | gnomAD-4.0.0 | 1.31574E-05 | |
25981 | 92 | P/R | 126 | rs794729505 | 0.3823 | None | gnomAD-2.1.1 | 4.02E-06 | |
25981 | 92 | P/R | 126 | rs794729505 | 0.3823 | None | gnomAD-4.0.0 | 1.59174E-06 | |
25982 | 93 | I/N | 127 | rs760050553 | 0.1567 | None | gnomAD-4.0.0 | 6.84291E-07 | |
25982 | 93 | I/T | 127 | rs760050553 | 0.1567 | None | gnomAD-2.1.1 | 4.02E-06 | |
25982 | 93 | I/T | 127 | rs760050553 | 0.1567 | None | gnomAD-3.1.2 | 1.32E-05 | |
25982 | 93 | I/T | 127 | rs760050553 | 0.1567 | None | gnomAD-4.0.0 | 1.05367E-05 | |
25982 | 93 | I/V | 127 | None | 0.1567 | None | gnomAD-4.0.0 | 1.59171E-06 | |
25983 | 94 | V/L | 128 | rs562762535 | 0.3734 | None | gnomAD-3.1.2 | 6.58E-06 | |
25983 | 94 | V/L | 128 | rs562762535 | 0.3734 | None | 1000 genomes | 1.99681E-04 | |
25983 | 94 | V/L | 128 | rs562762535 | 0.3734 | None | gnomAD-4.0.0 | 6.57333E-06 | |
25984 | 95 | A/D | 130 | rs766906797 | 0.0934 | None | gnomAD-2.1.1 | 4.02E-06 | |
25984 | 95 | A/D | 130 | rs766906797 | 0.0934 | None | gnomAD-4.0.0 | 2.05294E-06 | |
25984 | 95 | A/V | 130 | None | 0.0934 | None | gnomAD-4.0.0 | 6.84314E-07 | |
25985 | 96 | Q/P | 131 | rs552211406 | 0.6674 | None | gnomAD-2.1.1 | 8.04E-06 | |
25985 | 96 | Q/P | 131 | rs552211406 | 0.6674 | None | gnomAD-3.1.2 | 1.32E-05 | |
25985 | 96 | Q/P | 131 | rs552211406 | 0.6674 | None | 1000 genomes | 1.99681E-04 | |
25985 | 96 | Q/P | 131 | rs552211406 | 0.6674 | None | gnomAD-4.0.0 | 1.17755E-05 | |
25986 | 97 | Y/H | 132 | rs1706668829 | 0.8083 | None | gnomAD-4.0.0 | 2.40065E-06 |