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K | P | S | P | P | V | N | P | E | A | I | D | T | T | C | N | S | V | D | L | T | W | Q | P | P | R | H | D | G | G | S | K | I | L | G | Y | I | V | E | Y | Q | K | V | G | D | E | E | W | R | R | A | N | H | T | P | E | S | C | P | E | T | K | Y | K | V | T | G | L | R | D | G | Q | T | Y | K | F | R | V | L | A | V | N | A | A | G | E | S | D | P | A | H | V | P | E | P | V | L | V | K | D | R | L | E | P | P | E | L | I | L | D | A | N | M | A | R | E | Q | H | I | K | V | G | D | T | L | R | L | S | A | I | I | K | G | V | P | F | P | K | V | T | W | K | K | E | D | R | D | A | P | T | K | A | R | I | D | V | T | P | V | G | S | K | L | E | I | R | N | A | A | H | E | D | G | G | I | Y | S | L | T | V | E | N | P | A | G | S | K | T | V | S | V | K | V | L | V | L |
K | P | S | P | P | V | N | P | E | A | I | D | T | T | C | N | S | V | D | L | T | W | Q | P | P | R | H | D | G | G | S | K | I | L | G | Y | I | V | E | Y | Q | K | V | G | D | E | E | W | R | R | A | N | H | T | P | E | S | C | P | E | T | K | Y | K | V | T | G | L | R | D | G | Q | T | Y | K | F | R | V | L | A | V | N | A | A | G | E | S | D | P | A | H | V | P | E | P | V | L | V | K | D | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
19680 | 1 | K/E | 1 | rs2050579789 | 0.5426 | None | gnomAD-4.0.0 | 1.59735E-06 | |
19681 | 2 | P/L | 2 | rs776257317 | 0.1103 | None | gnomAD-2.1.1 | 4.06E-06 | |
19681 | 2 | P/L | 2 | rs776257317 | 0.1103 | None | gnomAD-4.0.0 | 1.59714E-06 | |
19681 | 2 | P/Q | 2 | rs776257317 | 0.1103 | None | gnomAD-3.1.2 | 6.58E-06 | |
19681 | 2 | P/Q | 2 | rs776257317 | 0.1103 | None | gnomAD-4.0.0 | 2.57042E-06 | |
19682 | 3 | S/N | 3 | rs2050577486 | 0.1831 | None | gnomAD-3.1.2 | 6.58E-06 | |
19682 | 3 | S/N | 3 | rs2050577486 | 0.1831 | None | gnomAD-4.0.0 | 6.57722E-06 | |
19682 | 3 | S/R | 3 | rs1481744095 | 0.1831 | None | gnomAD-2.1.1 | 8.09E-06 | |
19682 | 3 | S/R | 3 | rs1481744095 | 0.1831 | None | gnomAD-4.0.0 | 3.18883E-06 | |
19683 | 4 | P/R | 4 | rs768307125 | 0.2947 | None | gnomAD-2.1.1 | 6.47E-05 | |
19683 | 4 | P/R | 4 | rs768307125 | 0.2947 | None | gnomAD-3.1.2 | 3.29E-05 | |
19683 | 4 | P/R | 4 | rs768307125 | 0.2947 | None | gnomAD-4.0.0 | 7.05856E-05 | |
19684 | 5 | P/H | 5 | None | 0.1263 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19684 | 5 | P/S | 5 | rs760619849 | 0.1263 | None | gnomAD-2.1.1 | 3.23E-05 | |
19684 | 5 | P/S | 5 | rs760619849 | 0.1263 | None | gnomAD-3.1.2 | 6.58E-06 | |
19684 | 5 | P/S | 5 | rs760619849 | 0.1263 | None | gnomAD-4.0.0 | 1.7364E-05 | |
19687 | 8 | P/L | 9 | rs1215759243 | 0.1812 | None | gnomAD-2.1.1 | 6.38E-05 | |
19687 | 8 | P/L | 9 | rs1215759243 | 0.1812 | None | gnomAD-3.1.2 | 2.63E-05 | |
19687 | 8 | P/L | 9 | rs1215759243 | 0.1812 | None | gnomAD-4.0.0 | 2.63238E-05 | |
19688 | 9 | E/Q | 11 | None | 0.4944 | None | gnomAD-4.0.0 | 1.59269E-06 | |
19689 | 10 | A/V | 12 | None | 0.3326 | None | gnomAD-4.0.0 | 1.59227E-06 | |
19690 | 11 | I/L | 13 | rs1305679009 | 0.3928 | None | gnomAD-2.1.1 | 4.03E-06 | |
19690 | 11 | I/L | 13 | rs1305679009 | 0.3928 | None | gnomAD-4.0.0 | 6.15944E-06 | |
19690 | 11 | I/T | 13 | rs1359437797 | 0.3928 | None | gnomAD-2.1.1 | 3.19E-05 | |
19690 | 11 | I/T | 13 | rs1359437797 | 0.3928 | None | gnomAD-3.1.2 | 2.63E-05 | |
19690 | 11 | I/T | 13 | rs1359437797 | 0.3928 | None | gnomAD-4.0.0 | 3.71918E-06 | |
19690 | 11 | I/V | 13 | rs1305679009 | 0.3928 | None | gnomAD-2.1.1 | 4.03E-06 | |
19690 | 11 | I/V | 13 | rs1305679009 | 0.3928 | None | gnomAD-4.0.0 | 6.84382E-07 | |
19691 | 12 | D/E | 14 | None | 0.4167 | None | gnomAD-4.0.0 | 1.36873E-06 | |
19692 | 13 | T/A | 15 | rs771977738 | 0.1967 | None | gnomAD-2.1.1 | 5.24E-05 | |
19692 | 13 | T/A | 15 | rs771977738 | 0.1967 | None | gnomAD-4.0.0 | 1.09498E-05 | |
19692 | 13 | T/I | 15 | rs774404108 | 0.1967 | None | gnomAD-3.1.2 | 6.58E-06 | |
19692 | 13 | T/I | 15 | rs774404108 | 0.1967 | None | gnomAD-4.0.0 | 6.57687E-06 | |
19692 | 13 | T/K | 15 | None | 0.1967 | None | gnomAD-2.1.1 | 8.06E-06 | |
19692 | 13 | T/K | 15 | None | 0.1967 | None | gnomAD-4.0.0 | 2.05309E-06 | |
19692 | 13 | T/R | 15 | rs774404108 | 0.1967 | None | gnomAD-2.1.1 | 2.01E-05 | |
19692 | 13 | T/R | 15 | rs774404108 | 0.1967 | None | gnomAD-3.1.2 | 1.32E-05 | |
19692 | 13 | T/R | 15 | rs774404108 | 0.1967 | None | gnomAD-4.0.0 | 1.73562E-05 | |
19693 | 14 | T/A | 16 | rs1218974177 | 0.2516 | None | gnomAD-3.1.2 | 6.57E-06 | |
19693 | 14 | T/A | 16 | rs1218974177 | 0.2516 | None | gnomAD-4.0.0 | 6.57393E-06 | |
19693 | 14 | T/I | 16 | None | 0.2516 | None | gnomAD-4.0.0 | 1.59206E-06 | |
19694 | 15 | C/Y | 17 | rs727505276 | 0.2731 | None | gnomAD-2.1.1 | 2.15E-05 | |
19694 | 15 | C/Y | 17 | rs727505276 | 0.2731 | None | gnomAD-3.1.2 | 1.05238E-04 | |
19694 | 15 | C/Y | 17 | rs727505276 | 0.2731 | None | gnomAD-4.0.0 | 1.92156E-05 | |
19696 | 17 | S/L | 19 | None | 0.1296 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19697 | 18 | V/A | 20 | rs1559608792 | 0.0994 | None | gnomAD-2.1.1 | 4.03E-06 | |
19697 | 18 | V/A | 20 | rs1559608792 | 0.0994 | None | gnomAD-4.0.0 | 1.59199E-06 | |
19697 | 18 | V/I | 20 | rs777789224 | 0.0994 | None | gnomAD-2.1.1 | 4.03E-06 | |
19697 | 18 | V/I | 20 | rs777789224 | 0.0994 | None | gnomAD-4.0.0 | 1.59198E-06 | |
19698 | 19 | D/A | 21 | rs878974246 | 0.2531 | None | gnomAD-3.1.2 | 6.58E-06 | |
19698 | 19 | D/A | 21 | rs878974246 | 0.2531 | None | gnomAD-4.0.0 | 4.9587E-06 | |
19698 | 19 | D/H | 21 | rs397517642 | 0.2531 | None | gnomAD-2.1.1 | 4.03E-06 | |
19698 | 19 | D/H | 21 | rs397517642 | 0.2531 | None | gnomAD-4.0.0 | 6.84343E-07 | |
19698 | 19 | D/N | 21 | None | 0.2531 | None | gnomAD-2.1.1 | 1.21E-05 | |
19698 | 19 | D/N | 21 | None | 0.2531 | None | gnomAD-4.0.0 | 6.84343E-06 | |
19698 | 19 | D/Y | 21 | rs397517642 | 0.2531 | None | gnomAD-2.1.1 | 1.21E-05 | |
19698 | 19 | D/Y | 21 | rs397517642 | 0.2531 | None | gnomAD-3.1.2 | 1.97E-05 | |
19698 | 19 | D/Y | 21 | rs397517642 | 0.2531 | None | gnomAD-4.0.0 | 9.29797E-06 | |
19702 | 23 | Q/H | 25 | rs1380151837 | 0.4874 | None | gnomAD-2.1.1 | 8.05E-06 | |
19702 | 23 | Q/H | 25 | rs1380151837 | 0.4874 | None | gnomAD-4.0.0 | 3.18388E-06 | |
19703 | 24 | P/A | 26 | rs1033900652 | 0.5008 | None | gnomAD-2.1.1 | 4.03E-06 | |
19703 | 24 | P/A | 26 | rs1033900652 | 0.5008 | None | gnomAD-3.1.2 | 1.97E-05 | |
19703 | 24 | P/A | 26 | rs1033900652 | 0.5008 | None | gnomAD-4.0.0 | 6.19843E-06 | |
19703 | 24 | P/L | 26 | None | 0.5008 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19705 | 26 | R/C | 28 | rs72646839 | 0.8235 | None | gnomAD-2.1.1 | 2.25274E-04 | |
19705 | 26 | R/C | 28 | rs72646839 | 0.8235 | None | gnomAD-3.1.2 | 2.36873E-04 | |
19705 | 26 | R/C | 28 | rs72646839 | 0.8235 | None | gnomAD-4.0.0 | 2.14462E-04 | |
19705 | 26 | R/H | 28 | rs727503590 | 0.8235 | None | gnomAD-2.1.1 | 2.15E-05 | |
19705 | 26 | R/H | 28 | rs727503590 | 0.8235 | None | gnomAD-3.1.2 | 3.29E-05 | |
19705 | 26 | R/H | 28 | rs727503590 | 0.8235 | None | gnomAD-4.0.0 | 1.6116E-05 | |
19706 | 27 | H/D | 29 | None | 0.7861 | None | gnomAD-4.0.0 | 1.20036E-06 | |
19706 | 27 | H/L | 29 | None | 0.7861 | None | gnomAD-4.0.0 | 1.20035E-06 | |
19707 | 28 | D/G | 30 | None | 0.3544 | None | gnomAD-4.0.0 | 1.59189E-06 | |
19707 | 28 | D/H | 30 | None | 0.3544 | None | gnomAD-4.0.0 | 1.20034E-06 | |
19708 | 29 | G/C | 31 | None | 0.3949 | None | gnomAD-4.0.0 | 2.73731E-06 | |
19708 | 29 | G/S | 31 | rs1484810602 | 0.3949 | None | gnomAD-2.1.1 | 4.03E-06 | |
19708 | 29 | G/S | 31 | rs1484810602 | 0.3949 | None | gnomAD-4.0.0 | 6.84327E-07 | |
19709 | 30 | G/E | 32 | None | 0.6711 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19710 | 31 | S/N | 33 | None | 0.2742 | None | gnomAD-4.0.0 | 1.59181E-06 | |
19712 | 33 | I/F | 35 | rs547436872 | 0.2127 | None | gnomAD-2.1.1 | 4.03E-06 | |
19712 | 33 | I/F | 35 | rs547436872 | 0.2127 | None | gnomAD-3.1.2 | 6.58E-06 | |
19712 | 33 | I/F | 35 | rs547436872 | 0.2127 | None | gnomAD-4.0.0 | 8.05745E-06 | |
19712 | 33 | I/L | 35 | rs547436872 | 0.2127 | None | gnomAD-2.1.1 | 4.03E-06 | |
19712 | 33 | I/L | 35 | rs547436872 | 0.2127 | None | gnomAD-3.1.2 | 6.58E-06 | |
19712 | 33 | I/L | 35 | rs547436872 | 0.2127 | None | 1000 genomes | 1.99681E-04 | |
19712 | 33 | I/L | 35 | rs547436872 | 0.2127 | None | gnomAD-4.0.0 | 6.84302E-07 | |
19712 | 33 | I/M | 35 | rs928532463 | 0.2127 | None | gnomAD-2.1.1 | 4.03E-06 | |
19712 | 33 | I/M | 35 | rs928532463 | 0.2127 | None | gnomAD-4.0.0 | 3.18356E-06 | |
19714 | 35 | G/D | 37 | None | 0.0953 | None | gnomAD-4.0.0 | 1.59179E-06 | |
19716 | 37 | I/T | 39 | rs763636451 | 0.1275 | None | gnomAD-4.0.0 | 2.05289E-06 | |
19717 | 38 | V/A | 40 | None | 0.0986 | None | gnomAD-4.0.0 | 2.73722E-06 | |
19717 | 38 | V/I | 40 | rs1308382519 | 0.0986 | None | gnomAD-2.1.1 | 4.03E-06 | |
19717 | 38 | V/I | 40 | rs1308382519 | 0.0986 | None | gnomAD-4.0.0 | 3.18353E-06 | |
19718 | 39 | E/K | 41 | None | 0.1287 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19719 | 40 | Y/D | 42 | None | 0.2333 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19722 | 43 | V/A | 50 | rs116592778 | 0.4543 | None | gnomAD-2.1.1 | 1.2615E-03 | |
19722 | 43 | V/A | 50 | rs116592778 | 0.4543 | None | gnomAD-3.1.2 | 3.80926E-03 | |
19722 | 43 | V/A | 50 | rs116592778 | 0.4543 | None | 1000 genomes | 4.39297E-03 | |
19722 | 43 | V/A | 50 | rs116592778 | 0.4543 | None | gnomAD-4.0.0 | 7.04069E-04 | |
19722 | 43 | V/G | 50 | None | 0.4543 | None | gnomAD-4.0.0 | 6.84293E-07 | |
19724 | 45 | D/E | 60 | rs1373178934 | 0.4787 | None | gnomAD-4.0.0 | 1.3686E-06 | |
19725 | 46 | E/K | 63 | rs767601396 | 1.0180 | None | gnomAD-2.1.1 | 1.79E-05 | |
19725 | 46 | E/K | 63 | rs767601396 | 1.0180 | None | gnomAD-3.1.2 | 1.32E-05 | |
19725 | 46 | E/K | 63 | rs767601396 | 1.0180 | None | gnomAD-4.0.0 | 1.61151E-05 | |
19725 | 46 | E/Q | 63 | None | 1.0180 | None | gnomAD-4.0.0 | 6.84294E-07 | |
19725 | 46 | E/V | 63 | rs1434751540 | 1.0180 | None | gnomAD-2.1.1 | 4.02E-06 | |
19725 | 46 | E/V | 63 | rs1434751540 | 1.0180 | None | gnomAD-4.0.0 | 3.18343E-06 | |
19726 | 47 | E/K | 64 | rs1356102019 | 0.9035 | None | gnomAD-3.1.2 | 1.32E-05 | |
19726 | 47 | E/K | 64 | rs1356102019 | 0.9035 | None | gnomAD-4.0.0 | 3.09903E-06 | |
19726 | 47 | E/Q | 64 | None | 0.9035 | None | gnomAD-4.0.0 | 6.84291E-07 | |
19727 | 48 | W/R | 65 | rs759228350 | 0.2555 | None | gnomAD-2.1.1 | 4.02E-06 | |
19727 | 48 | W/R | 65 | rs759228350 | 0.2555 | None | gnomAD-4.0.0 | 6.84292E-07 | |
19728 | 49 | R/K | 66 | None | 0.5781 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19730 | 51 | A/D | 68 | rs1471424037 | 0.1974 | None | gnomAD-2.1.1 | 4.02E-06 | |
19730 | 51 | A/D | 68 | rs1471424037 | 0.1974 | None | gnomAD-4.0.0 | 1.59175E-06 | |
19730 | 51 | A/T | 68 | rs2050547088 | 0.1974 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19730 | 51 | A/V | 68 | rs1471424037 | 0.1974 | None | gnomAD-3.1.2 | 6.58E-06 | |
19730 | 51 | A/V | 68 | rs1471424037 | 0.1974 | None | gnomAD-4.0.0 | 3.8454E-06 | |
19731 | 52 | N/K | 69 | rs774146313 | 0.1416 | None | gnomAD-2.1.1 | 4.02E-06 | |
19731 | 52 | N/K | 69 | rs774146313 | 0.1416 | None | gnomAD-4.0.0 | 1.59168E-06 | |
19731 | 52 | N/S | 69 | rs879073304 | 0.1416 | None | gnomAD-3.1.2 | 6.58E-06 | |
19731 | 52 | N/S | 69 | rs879073304 | 0.1416 | None | gnomAD-4.0.0 | 6.81795E-06 | |
19733 | 54 | T/I | 72 | rs749461231 | 0.4096 | None | gnomAD-2.1.1 | 4.02E-06 | |
19733 | 54 | T/I | 72 | rs749461231 | 0.4096 | None | gnomAD-4.0.0 | 1.59166E-06 | |
19733 | 54 | T/S | 72 | rs749461231 | 0.4096 | None | gnomAD-2.1.1 | 4.02E-06 | |
19733 | 54 | T/S | 72 | rs749461231 | 0.4096 | None | gnomAD-4.0.0 | 1.59166E-06 | |
19734 | 55 | P/A | 73 | rs563889482 | 0.1855 | None | gnomAD-2.1.1 | 4.02E-06 | |
19734 | 55 | P/A | 73 | rs563889482 | 0.1855 | None | gnomAD-3.1.2 | 6.58E-06 | |
19734 | 55 | P/A | 73 | rs563889482 | 0.1855 | None | gnomAD-4.0.0 | 6.58181E-06 | |
19734 | 55 | P/S | 73 | rs563889482 | 0.1855 | None | gnomAD-2.1.1 | 4.02E-06 | |
19734 | 55 | P/S | 73 | rs563889482 | 0.1855 | None | gnomAD-4.0.0 | 3.42142E-06 | |
19735 | 56 | E/A | 74 | rs769852851 | 0.3962 | None | gnomAD-4.0.0 | 9.57999E-06 | |
19737 | 58 | C/G | 77 | rs891241532 | 0.0818 | None | gnomAD-3.1.2 | 6.58E-06 | |
19737 | 58 | C/G | 77 | rs891241532 | 0.0818 | None | gnomAD-4.0.0 | 2.5632E-06 | |
19737 | 58 | C/Y | 77 | rs748295228 | 0.0818 | None | gnomAD-2.1.1 | 4.02E-06 | |
19737 | 58 | C/Y | 77 | rs748295228 | 0.0818 | None | gnomAD-4.0.0 | 1.59171E-06 | |
19738 | 59 | P/L | 83 | rs879199918 | 0.4880 | None | gnomAD-4.0.0 | 4.77509E-06 | |
19739 | 60 | E/A | 88 | None | 0.5922 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19741 | 62 | K/E | 90 | rs1283284446 | 0.5428 | None | gnomAD-3.1.2 | 6.58E-06 | |
19741 | 62 | K/E | 90 | rs1283284446 | 0.5428 | None | gnomAD-4.0.0 | 6.5773E-06 | |
19741 | 62 | K/T | 90 | rs1443597990 | 0.5428 | None | gnomAD-3.1.2 | 6.58E-06 | |
19741 | 62 | K/T | 90 | rs1443597990 | 0.5428 | None | gnomAD-4.0.0 | 2.03017E-06 | |
19742 | 63 | Y/C | 91 | rs1559607092 | 0.2343 | None | gnomAD-4.0.0 | 5.47446E-06 | |
19744 | 65 | V/A | 93 | None | 0.1123 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19746 | 67 | G/R | 96 | None | 0.5311 | None | gnomAD-4.0.0 | 6.84321E-07 | |
19746 | 67 | G/S | 96 | rs372802352 | 0.5311 | None | gnomAD-2.1.1 | 5.36E-05 | |
19746 | 67 | G/S | 96 | rs372802352 | 0.5311 | None | gnomAD-3.1.2 | 1.11847E-04 | |
19746 | 67 | G/S | 96 | rs372802352 | 0.5311 | None | gnomAD-4.0.0 | 3.22322E-05 | |
19747 | 68 | L/F | 97 | rs369883019 | 0.1156 | None | gnomAD-2.1.1 | 1.07E-05 | |
19747 | 68 | L/F | 97 | rs369883019 | 0.1156 | None | gnomAD-3.1.2 | 6.58E-06 | |
19747 | 68 | L/F | 97 | rs369883019 | 0.1156 | None | gnomAD-4.0.0 | 2.47935E-06 | |
19747 | 68 | L/R | 97 | rs2154185954 | 0.1156 | None | gnomAD-4.0.0 | 1.20047E-06 | |
19748 | 69 | R/Q | 98 | rs142791877 | 0.7861 | None | gnomAD-2.1.1 | 2.14E-05 | |
19748 | 69 | R/Q | 98 | rs142791877 | 0.7861 | None | gnomAD-3.1.2 | 6.58E-06 | |
19748 | 69 | R/Q | 98 | rs142791877 | 0.7861 | None | 1000 genomes | 1.99681E-04 | |
19748 | 69 | R/Q | 98 | rs142791877 | 0.7861 | None | gnomAD-4.0.0 | 1.92142E-05 | |
19748 | 69 | R/W | 98 | rs780429608 | 0.7861 | None | gnomAD-2.1.1 | 2.14E-05 | |
19748 | 69 | R/W | 98 | rs780429608 | 0.7861 | None | gnomAD-3.1.2 | 7.24E-05 | |
19748 | 69 | R/W | 98 | rs780429608 | 0.7861 | None | gnomAD-4.0.0 | 1.48761E-05 | |
19749 | 70 | D/G | 99 | rs1414991035 | 0.5774 | None | gnomAD-2.1.1 | 4.02E-06 | |
19749 | 70 | D/G | 99 | rs1414991035 | 0.5774 | None | gnomAD-3.1.2 | 6.58E-06 | |
19749 | 70 | D/G | 99 | rs1414991035 | 0.5774 | None | gnomAD-4.0.0 | 2.56316E-06 | |
19749 | 70 | D/N | 99 | rs2050531286 | 0.5774 | None | gnomAD-3.1.2 | 6.58E-06 | |
19749 | 70 | D/N | 99 | rs2050531286 | 0.5774 | None | gnomAD-4.0.0 | 6.57566E-06 | |
19750 | 71 | G/C | 100 | rs200732032 | 0.3661 | None | gnomAD-4.0.0 | 6.84323E-07 | |
19750 | 71 | G/D | 100 | None | 0.3661 | None | gnomAD-4.0.0 | 1.20032E-05 | |
19750 | 71 | G/R | 100 | None | 0.3661 | None | gnomAD-4.0.0 | 6.84323E-07 | |
19750 | 71 | G/S | 100 | rs200732032 | 0.3661 | None | gnomAD-2.1.1 | 1.10712E-04 | |
19750 | 71 | G/S | 100 | rs200732032 | 0.3661 | None | gnomAD-3.1.2 | 9.87E-05 | |
19750 | 71 | G/S | 100 | rs200732032 | 0.3661 | None | gnomAD-4.0.0 | 2.75831E-04 | |
19753 | 74 | Y/C | 104 | rs755651839 | 0.1052 | None | gnomAD-2.1.1 | 2.14E-05 | |
19753 | 74 | Y/C | 104 | rs755651839 | 0.1052 | None | gnomAD-3.1.2 | 2.63E-05 | |
19753 | 74 | Y/C | 104 | rs755651839 | 0.1052 | None | gnomAD-4.0.0 | 8.05749E-06 | |
19754 | 75 | K/E | 105 | rs752302911 | 0.3853 | None | gnomAD-2.1.1 | 4.02E-06 | |
19754 | 75 | K/E | 105 | rs752302911 | 0.3853 | None | gnomAD-4.0.0 | 1.59184E-06 | |
19754 | 75 | K/N | 105 | None | 0.3853 | None | gnomAD-4.0.0 | 6.84316E-07 | |
19755 | 76 | F/L | 106 | None | 0.1234 | None | gnomAD-4.0.0 | 6.84314E-07 | |
19756 | 77 | R/K | 107 | None | 0.1390 | None | gnomAD-4.0.0 | 1.59184E-06 | |
19757 | 78 | V/A | 108 | rs574316788 | 0.0914 | None | gnomAD-2.1.1 | 8.05E-06 | |
19757 | 78 | V/A | 108 | rs574316788 | 0.0914 | None | gnomAD-3.1.2 | 1.97E-05 | |
19757 | 78 | V/A | 108 | rs574316788 | 0.0914 | None | 1000 genomes | 1.99681E-04 | |
19757 | 78 | V/A | 108 | rs574316788 | 0.0914 | None | gnomAD-4.0.0 | 8.05774E-06 | |
19758 | 79 | L/S | 109 | None | 0.1232 | None | gnomAD-4.0.0 | 7.20193E-06 | |
19760 | 81 | V/I | 111 | rs1207237676 | 0.1259 | None | gnomAD-2.1.1 | 3.19E-05 | |
19761 | 82 | N/S | 112 | rs563969986 | 0.1163 | None | gnomAD-2.1.1 | 3.85852E-04 | |
19761 | 82 | N/S | 112 | rs563969986 | 0.1163 | None | gnomAD-3.1.2 | 2.56366E-04 | |
19761 | 82 | N/S | 112 | rs563969986 | 0.1163 | None | 1000 genomes | 7.98722E-04 | |
19761 | 82 | N/S | 112 | rs563969986 | 0.1163 | None | gnomAD-4.0.0 | 3.04919E-04 | |
19762 | 83 | A/E | 113 | rs1311886410 | 0.6276 | None | gnomAD-2.1.1 | 4.02E-06 | |
19762 | 83 | A/E | 113 | rs1311886410 | 0.6276 | None | gnomAD-3.1.2 | 6.57E-06 | |
19762 | 83 | A/E | 113 | rs1311886410 | 0.6276 | None | gnomAD-4.0.0 | 1.79746E-05 | |
19763 | 84 | A/T | 114 | rs372951248 | 0.4629 | None | gnomAD-2.1.1 | 8.05E-06 | |
19763 | 84 | A/T | 114 | rs372951248 | 0.4629 | None | gnomAD-4.0.0 | 2.40064E-06 | |
19764 | 85 | G/S | 115 | rs1239011047 | 0.1929 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19765 | 86 | E/V | 117 | rs766141647 | 0.3813 | None | gnomAD-2.1.1 | 1.21E-05 | |
19765 | 86 | E/V | 117 | rs766141647 | 0.3813 | None | gnomAD-4.0.0 | 8.21192E-06 | |
19767 | 88 | D/E | 119 | rs2050519675 | 0.8083 | None | gnomAD-3.1.2 | 6.57E-06 | |
19767 | 88 | D/E | 119 | rs2050519675 | 0.8083 | None | gnomAD-4.0.0 | 2.4792E-06 | |
19767 | 88 | D/N | 119 | rs1559606296 | 0.8083 | None | gnomAD-2.1.1 | 4.02E-06 | |
19767 | 88 | D/N | 119 | rs1559606296 | 0.8083 | None | gnomAD-4.0.0 | 1.59191E-06 | |
19770 | 91 | H/R | 122 | rs762714656 | 0.4035 | None | gnomAD-2.1.1 | 4.03E-06 | |
19770 | 91 | H/R | 122 | rs762714656 | 0.4035 | None | gnomAD-4.0.0 | 1.59194E-06 | |
19772 | 93 | P/L | 124 | rs72646840 | 0.6544 | None | gnomAD-2.1.1 | 1.06161E-03 | |
19772 | 93 | P/L | 124 | rs72646840 | 0.6544 | None | gnomAD-3.1.2 | 3.06381E-03 | |
19772 | 93 | P/L | 124 | rs72646840 | 0.6544 | None | 1000 genomes | 2.39617E-03 | |
19772 | 93 | P/L | 124 | rs72646840 | 0.6544 | None | gnomAD-4.0.0 | 6.8734E-04 | |
19772 | 93 | P/Q | 124 | None | 0.6544 | None | gnomAD-4.0.0 | 2.05304E-06 | |
19772 | 93 | P/R | 124 | rs72646840 | 0.6544 | None | gnomAD-3.1.2 | 6.57E-06 | |
19772 | 93 | P/R | 124 | rs72646840 | 0.6544 | None | gnomAD-4.0.0 | 6.57462E-06 | |
19772 | 93 | P/T | 124 | rs773420166 | 0.6544 | None | gnomAD-2.1.1 | 4.03E-06 | |
19772 | 93 | P/T | 124 | rs773420166 | 0.6544 | None | gnomAD-3.1.2 | 6.58E-06 | |
19772 | 93 | P/T | 124 | rs773420166 | 0.6544 | None | gnomAD-4.0.0 | 1.8595E-06 | |
19773 | 94 | E/A | 125 | None | 0.7237 | None | gnomAD-4.0.0 | 6.84345E-07 | |
19773 | 94 | E/G | 125 | rs371719028 | 0.7237 | None | gnomAD-2.1.1 | 2.21626E-04 | |
19773 | 94 | E/G | 125 | rs371719028 | 0.7237 | None | gnomAD-3.1.2 | 7.23275E-04 | |
19773 | 94 | E/G | 125 | rs371719028 | 0.7237 | None | 1000 genomes | 5.99042E-04 | |
19773 | 94 | E/G | 125 | rs371719028 | 0.7237 | None | gnomAD-4.0.0 | 1.19619E-04 | |
19775 | 96 | V/D | 127 | rs2050514835 | 0.2292 | None | gnomAD-3.1.2 | 6.57E-06 | |
19775 | 96 | V/D | 127 | rs2050514835 | 0.2292 | None | gnomAD-4.0.0 | 6.57358E-06 | |
19777 | 98 | V/I | 130 | rs1178263259 | 0.0670 | None | gnomAD-4.0.0 | 2.05309E-06 |