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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
23435 | 1 | T/K | 1 | None | 0.5160 | None | gnomAD-4.0.0 | 2.05297E-06 | |
23435 | 1 | T/M | 1 | rs1324845938 | 0.5160 | None | gnomAD-4.0.0 | 8.89624E-06 | |
23436 | 2 | P/S | 2 | None | 0.1331 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23437 | 3 | G/D | 3 | rs1250159193 | 0.2406 | None | gnomAD-2.1.1 | 4.02E-06 | |
23437 | 3 | G/D | 3 | rs1250159193 | 0.2406 | None | gnomAD-4.0.0 | 1.59207E-06 | |
23437 | 3 | G/S | 3 | rs1448001247 | 0.2406 | None | gnomAD-2.1.1 | 4.02E-06 | |
23437 | 3 | G/S | 3 | rs1448001247 | 0.2406 | None | gnomAD-4.0.0 | 1.59196E-06 | |
23438 | 4 | P/L | 4 | None | 0.4083 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23439 | 5 | V/A | 5 | None | 0.1107 | None | gnomAD-4.0.0 | 6.8441E-07 | |
23441 | 7 | N/K | 7 | rs751179969 | 0.5598 | None | gnomAD-2.1.1 | 4.02E-06 | |
23441 | 7 | N/K | 7 | rs751179969 | 0.5598 | None | gnomAD-4.0.0 | 6.84472E-07 | |
23442 | 8 | L/M | 9 | rs1553614105 | 0.1979 | None | gnomAD-4.0.0 | 1.36897E-06 | |
23443 | 9 | R/G | 11 | rs765987438 | 0.3090 | None | gnomAD-2.1.1 | 7.15E-06 | |
23443 | 9 | R/G | 11 | rs765987438 | 0.3090 | None | gnomAD-3.1.2 | 6.58E-06 | |
23443 | 9 | R/G | 11 | rs765987438 | 0.3090 | None | gnomAD-4.0.0 | 2.48005E-06 | |
23443 | 9 | R/Q | 11 | rs762529671 | 0.3090 | None | gnomAD-2.1.1 | 3.22E-05 | |
23443 | 9 | R/Q | 11 | rs762529671 | 0.3090 | None | gnomAD-3.1.2 | 2.63E-05 | |
23443 | 9 | R/Q | 11 | rs762529671 | 0.3090 | None | gnomAD-4.0.0 | 3.22414E-05 | |
23443 | 9 | R/W | 11 | rs765987438 | 0.3090 | None | gnomAD-2.1.1 | 7.15E-06 | |
23443 | 9 | R/W | 11 | rs765987438 | 0.3090 | None | gnomAD-3.1.2 | 6.58E-06 | |
23443 | 9 | R/W | 11 | rs765987438 | 0.3090 | None | gnomAD-4.0.0 | 3.10006E-06 | |
23444 | 10 | P/R | 12 | rs1325284144 | 0.4040 | None | gnomAD-3.1.2 | 6.58E-06 | |
23444 | 10 | P/R | 12 | rs1325284144 | 0.4040 | None | gnomAD-4.0.0 | 5.12919E-06 | |
23445 | 11 | T/A | 13 | rs1216746795 | 0.2238 | None | gnomAD-4.0.0 | 6.00161E-06 | |
23445 | 11 | T/I | 13 | rs750009240 | 0.2238 | None | gnomAD-2.1.1 | 1.61E-05 | |
23445 | 11 | T/I | 13 | rs750009240 | 0.2238 | None | gnomAD-4.0.0 | 6.37119E-06 | |
23446 | 12 | D/A | 14 | None | 0.5506 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23446 | 12 | D/N | 14 | rs1290459779 | 0.5506 | None | gnomAD-2.1.1 | 4.02E-06 | |
23446 | 12 | D/N | 14 | rs1290459779 | 0.5506 | None | gnomAD-4.0.0 | 1.59285E-06 | |
23447 | 13 | I/M | 15 | rs1213801020 | 0.2974 | None | gnomAD-2.1.1 | 4.02E-06 | |
23447 | 13 | I/M | 15 | rs1213801020 | 0.2974 | None | gnomAD-4.0.0 | 4.10714E-06 | |
23447 | 13 | I/V | 15 | None | 0.2974 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23448 | 14 | T/A | 16 | None | 0.2265 | None | gnomAD-4.0.0 | 1.59277E-06 | |
23448 | 14 | T/R | 16 | None | 0.2265 | None | gnomAD-4.0.0 | 1.59278E-06 | |
23449 | 15 | K/N | 17 | rs957102264 | 0.4525 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23451 | 17 | S/R | 19 | rs754456949 | 0.1116 | None | gnomAD-3.1.2 | 6.58E-06 | |
23451 | 17 | S/R | 19 | rs754456949 | 0.1116 | None | gnomAD-4.0.0 | 6.57834E-06 | |
23451 | 17 | S/T | 19 | rs1339742394 | 0.1116 | None | gnomAD-2.1.1 | 4.02E-06 | |
23451 | 17 | S/T | 19 | rs1339742394 | 0.1116 | None | gnomAD-4.0.0 | 3.18474E-06 | |
23452 | 18 | V/I | 20 | None | 0.0990 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23453 | 19 | T/I | 21 | rs1435352674 | 0.1359 | None | gnomAD-2.1.1 | 4.02E-06 | |
23453 | 19 | T/I | 21 | rs1435352674 | 0.1359 | None | gnomAD-4.0.0 | 1.59201E-06 | |
23453 | 19 | T/N | 21 | None | 0.1359 | None | gnomAD-4.0.0 | 3.18402E-06 | |
23457 | 23 | D/N | 25 | None | 0.3229 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23457 | 23 | D/V | 25 | rs535816123 | 0.3229 | None | gnomAD-2.1.1 | 2.82E-05 | |
23457 | 23 | D/V | 25 | rs535816123 | 0.3229 | None | gnomAD-3.1.2 | 1.32E-05 | |
23457 | 23 | D/V | 25 | rs535816123 | 0.3229 | None | 1000 genomes | 1.99681E-04 | |
23457 | 23 | D/V | 25 | rs535816123 | 0.3229 | None | gnomAD-4.0.0 | 1.53793E-05 | |
23458 | 24 | L/F | 26 | rs1709865828 | 0.7662 | None | gnomAD-4.0.0 | 1.5919E-06 | |
23459 | 25 | P/L | 27 | rs776457502 | 0.1620 | None | gnomAD-2.1.1 | 4.02E-06 | |
23459 | 25 | P/L | 27 | rs776457502 | 0.1620 | None | gnomAD-4.0.0 | 4.79033E-06 | |
23460 | 26 | L/R | 28 | rs879027466 | 0.9628 | None | gnomAD-3.1.2 | 1.97E-05 | |
23460 | 26 | L/R | 28 | rs879027466 | 0.9628 | None | gnomAD-4.0.0 | 5.12638E-06 | |
23461 | 27 | I/M | 29 | None | 0.7593 | None | gnomAD-4.0.0 | 1.59186E-06 | |
23461 | 27 | I/R | 29 | rs775762472 | 0.7593 | None | gnomAD-2.1.1 | 4.02E-06 | |
23461 | 27 | I/R | 29 | rs775762472 | 0.7593 | None | gnomAD-4.0.0 | 1.59189E-06 | |
23461 | 27 | I/V | 29 | rs1170300318 | 0.7593 | None | gnomAD-2.1.1 | 4.02E-06 | |
23461 | 27 | I/V | 29 | rs1170300318 | 0.7593 | None | gnomAD-4.0.0 | 3.18369E-06 | |
23462 | 28 | D/N | 30 | None | 0.3530 | None | gnomAD-4.0.0 | 1.36861E-06 | |
23463 | 29 | G/A | 31 | rs745946955 | 0.2652 | None | gnomAD-2.1.1 | 4.02E-06 | |
23463 | 29 | G/A | 31 | rs745946955 | 0.2652 | None | gnomAD-4.0.0 | 1.59179E-06 | |
23464 | 30 | G/A | 32 | None | 0.5789 | None | gnomAD-4.0.0 | 1.36861E-06 | |
23464 | 30 | G/D | 32 | rs549938348 | 0.5789 | None | 1000 genomes | 1.99681E-04 | |
23464 | 30 | G/D | 32 | rs549938348 | 0.5789 | None | gnomAD-4.0.0 | 6.84303E-07 | |
23464 | 30 | G/R | 32 | None | 0.5789 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23464 | 30 | G/V | 32 | rs549938348 | 0.5789 | None | gnomAD-2.1.1 | 4.02E-06 | |
23464 | 30 | G/V | 32 | rs549938348 | 0.5789 | None | gnomAD-3.1.2 | 1.32E-05 | |
23464 | 30 | G/V | 32 | rs549938348 | 0.5789 | None | gnomAD-4.0.0 | 6.81791E-06 | |
23466 | 32 | R/C | 34 | rs749744742 | 0.8369 | None | gnomAD-2.1.1 | 1.07E-05 | |
23466 | 32 | R/C | 34 | rs749744742 | 0.8369 | None | gnomAD-3.1.2 | 1.97E-05 | |
23466 | 32 | R/C | 34 | rs749744742 | 0.8369 | None | gnomAD-4.0.0 | 8.67778E-06 | |
23466 | 32 | R/G | 34 | None | 0.8369 | None | gnomAD-4.0.0 | 6.84309E-07 | |
23466 | 32 | R/H | 34 | rs1193026411 | 0.8369 | None | gnomAD-2.1.1 | 8.05E-06 | |
23466 | 32 | R/H | 34 | rs1193026411 | 0.8369 | None | gnomAD-4.0.0 | 1.0949E-05 | |
23466 | 32 | R/P | 34 | None | 0.8369 | None | gnomAD-4.0.0 | 6.84315E-07 | |
23466 | 32 | R/S | 34 | rs749744742 | 0.8369 | None | gnomAD-4.0.0 | 1.36862E-06 | |
23467 | 33 | I/M | 35 | None | 0.1739 | None | gnomAD-4.0.0 | 1.59181E-06 | |
23467 | 33 | I/T | 35 | rs778170654 | 0.1739 | None | gnomAD-2.1.1 | 4.02E-06 | |
23467 | 33 | I/V | 35 | rs866974760 | 0.1739 | None | gnomAD-4.0.0 | 2.05293E-06 | |
23468 | 34 | T/K | 36 | None | 0.3736 | None | gnomAD-4.0.0 | 1.59179E-06 | |
23470 | 36 | Y/C | 38 | rs750891099 | 0.1155 | None | gnomAD-2.1.1 | 4.03E-06 | |
23470 | 36 | Y/C | 38 | rs750891099 | 0.1155 | None | gnomAD-4.0.0 | 1.84762E-05 | |
23470 | 36 | Y/D | 38 | rs753051564 | 0.1155 | None | gnomAD-2.1.1 | 4.03E-06 | |
23470 | 36 | Y/D | 38 | rs753051564 | 0.1155 | None | gnomAD-4.0.0 | 1.59176E-06 | |
23471 | 37 | I/M | 39 | rs764793576 | 0.1917 | None | gnomAD-2.1.1 | 4.03E-06 | |
23471 | 37 | I/T | 39 | rs1475765674 | 0.1917 | None | gnomAD-3.1.2 | 6.58E-06 | |
23471 | 37 | I/T | 39 | rs1475765674 | 0.1917 | None | gnomAD-4.0.0 | 4.33881E-06 | |
23471 | 37 | I/V | 39 | None | 0.1917 | None | gnomAD-4.0.0 | 1.20033E-06 | |
23472 | 38 | V/I | 40 | rs556399127 | 0.0953 | None | gnomAD-2.1.1 | 4.03E-06 | |
23472 | 38 | V/I | 40 | rs556399127 | 0.0953 | None | gnomAD-4.0.0 | 3.18349E-06 | |
23473 | 39 | E/Q | 41 | None | 0.1323 | None | gnomAD-4.0.0 | 1.59176E-06 | |
23474 | 40 | K/E | 42 | None | 0.2452 | None | gnomAD-4.0.0 | 1.59175E-06 | |
23475 | 41 | R/C | 43 | rs761442543 | 0.1156 | None | gnomAD-2.1.1 | 2.5E-05 | |
23475 | 41 | R/C | 43 | rs761442543 | 0.1156 | None | gnomAD-3.1.2 | 3.29E-05 | |
23475 | 41 | R/C | 43 | rs761442543 | 0.1156 | None | gnomAD-4.0.0 | 2.66528E-05 | |
23475 | 41 | R/H | 43 | rs370257707 | 0.1156 | None | gnomAD-2.1.1 | 3.22E-05 | |
23475 | 41 | R/H | 43 | rs370257707 | 0.1156 | None | gnomAD-3.1.2 | 3.95E-05 | |
23475 | 41 | R/H | 43 | rs370257707 | 0.1156 | None | gnomAD-4.0.0 | 7.37575E-05 | |
23477 | 43 | A/E | 50 | None | 0.2184 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23477 | 43 | A/T | 50 | rs763988813 | 0.2184 | None | gnomAD-2.1.1 | 2.01E-05 | |
23477 | 43 | A/T | 50 | rs763988813 | 0.2184 | None | gnomAD-4.0.0 | 8.21163E-06 | |
23479 | 45 | R/Q | 60 | rs140127488 | 0.4832 | None | gnomAD-2.1.1 | 1.21E-05 | |
23479 | 45 | R/Q | 60 | rs140127488 | 0.4832 | None | gnomAD-3.1.2 | 6.58E-06 | |
23479 | 45 | R/Q | 60 | rs140127488 | 0.4832 | None | 1000 genomes | 1.99681E-04 | |
23479 | 45 | R/Q | 60 | rs140127488 | 0.4832 | None | gnomAD-4.0.0 | 1.54944E-05 | |
23479 | 45 | R/W | 60 | rs760509116 | 0.4832 | None | gnomAD-2.1.1 | 6.08E-05 | |
23479 | 45 | R/W | 60 | rs760509116 | 0.4832 | None | gnomAD-3.1.2 | 3.29E-05 | |
23479 | 45 | R/W | 60 | rs760509116 | 0.4832 | None | gnomAD-4.0.0 | 3.09884E-05 | |
23480 | 46 | K/Q | 63 | None | 1.0799 | None | gnomAD-4.0.0 | 1.59177E-06 | |
23482 | 48 | Y/F | 65 | None | 0.2208 | None | gnomAD-4.0.0 | 2.40064E-06 | |
23483 | 49 | S/Y | 66 | None | 0.3787 | None | gnomAD-4.0.0 | 1.59171E-06 | |
23484 | 50 | T/K | 67 | rs1178437079 | 0.4528 | None | gnomAD-2.1.1 | 4.02E-06 | |
23484 | 50 | T/K | 67 | rs1178437079 | 0.4528 | None | gnomAD-4.0.0 | 6.84284E-07 | |
23484 | 50 | T/R | 67 | None | 0.4528 | None | gnomAD-4.0.0 | 6.84284E-07 | |
23485 | 51 | A/D | 68 | None | 0.2258 | None | gnomAD-4.0.0 | 2.40064E-06 | |
23486 | 52 | T/I | 69 | rs774575929 | 0.1408 | None | gnomAD-2.1.1 | 8.05E-06 | |
23486 | 52 | T/I | 69 | rs774575929 | 0.1408 | None | gnomAD-4.0.0 | 2.05284E-06 | |
23487 | 53 | T/I | 70 | None | 0.4954 | None | gnomAD-4.0.0 | 2.73715E-06 | |
23487 | 53 | T/S | 70 | None | 0.4954 | None | gnomAD-4.0.0 | 6.84287E-07 | |
23488 | 54 | K/E | 75 | None | 0.8305 | None | gnomAD-4.0.0 | 1.36858E-06 | |
23488 | 54 | K/R | 75 | None | 0.8305 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23489 | 55 | C/F | 77 | None | 0.0851 | None | gnomAD-4.0.0 | 3.42146E-06 | |
23489 | 55 | C/S | 77 | rs1471554561 | 0.0851 | None | gnomAD-2.1.1 | 4.02E-06 | |
23490 | 56 | H/D | 83 | rs1397554911 | 0.7418 | None | gnomAD-3.1.2 | 6.58E-06 | |
23490 | 56 | H/D | 83 | rs1397554911 | 0.7418 | None | gnomAD-4.0.0 | 3.84475E-06 | |
23493 | 59 | T/I | 90 | None | 0.2865 | None | gnomAD-4.0.0 | 6.00161E-06 | |
23493 | 59 | T/S | 90 | rs375675901 | 0.2865 | None | gnomAD-3.1.2 | 2.63E-05 | |
23493 | 59 | T/S | 90 | rs375675901 | 0.2865 | None | gnomAD-4.0.0 | 7.43708E-06 | |
23494 | 60 | Y/H | 91 | rs72646888 | 0.2477 | None | gnomAD-4.0.0 | 6.84286E-06 | |
23494 | 60 | Y/N | 91 | None | 0.2477 | None | gnomAD-4.0.0 | 6.84286E-07 | |
23495 | 61 | K/E | 92 | None | 0.3705 | None | gnomAD-4.0.0 | 3.18337E-06 | |
23495 | 61 | K/N | 92 | rs1482776876 | 0.3705 | None | gnomAD-2.1.1 | 2.01E-05 | |
23495 | 61 | K/N | 92 | rs1482776876 | 0.3705 | None | gnomAD-4.0.0 | 1.437E-05 | |
23496 | 62 | V/L | 93 | None | 0.1273 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23497 | 63 | T/I | 94 | None | 0.5562 | None | gnomAD-4.0.0 | 1.5917E-06 | |
23498 | 64 | G/D | 96 | rs770261949 | 0.4647 | None | gnomAD-2.1.1 | 4.02E-06 | |
23498 | 64 | G/S | 96 | rs370771532 | 0.4647 | None | gnomAD-2.1.1 | 2.32246E-04 | |
23498 | 64 | G/S | 96 | rs370771532 | 0.4647 | None | gnomAD-3.1.2 | 2.43328E-04 | |
23498 | 64 | G/S | 96 | rs370771532 | 0.4647 | None | gnomAD-4.0.0 | 1.80983E-04 | |
23499 | 65 | L/F | 97 | rs75626265 | 0.1344 | None | gnomAD-4.0.0 | 6.37414E-05 | |
23499 | 65 | L/S | 97 | None | 0.1344 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23500 | 66 | S/C | 98 | rs774745687 | 0.4860 | None | gnomAD-4.0.0 | 3.1837E-06 | |
23500 | 66 | S/T | 98 | None | 0.4860 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23501 | 67 | E/K | 99 | rs1709809170 | 0.6068 | None | gnomAD-4.0.0 | 4.77544E-06 | |
23502 | 68 | G/A | 100 | rs755417099 | 0.3094 | None | gnomAD-4.0.0 | 1.59176E-06 | |
23502 | 68 | G/E | 100 | rs755417099 | 0.3094 | None | gnomAD-2.1.1 | 1.21E-05 | |
23502 | 68 | G/E | 100 | rs755417099 | 0.3094 | None | gnomAD-4.0.0 | 4.77529E-06 | |
23502 | 68 | G/R | 100 | rs781343586 | 0.3094 | None | gnomAD-2.1.1 | 8.05E-06 | |
23502 | 68 | G/R | 100 | rs781343586 | 0.3094 | None | gnomAD-4.0.0 | 4.77529E-06 | |
23503 | 69 | C/G | 102 | rs778748283 | 0.2518 | None | gnomAD-4.0.0 | 2.28268E-03 | |
23503 | 69 | C/Y | 102 | rs1466729716 | 0.2518 | None | gnomAD-2.1.1 | 4.03E-06 | |
23503 | 69 | C/Y | 102 | rs1466729716 | 0.2518 | None | gnomAD-4.0.0 | 1.59172E-06 | |
23504 | 70 | E/D | 103 | None | 0.4440 | None | gnomAD-4.0.0 | 6.84291E-07 | |
23504 | 70 | E/Q | 103 | rs1362847983 | 0.4440 | None | gnomAD-2.1.1 | 3.19E-05 | |
23504 | 70 | E/Q | 103 | rs1362847983 | 0.4440 | None | gnomAD-3.1.2 | 6.57E-06 | |
23504 | 70 | E/Q | 103 | rs1362847983 | 0.4440 | None | gnomAD-4.0.0 | 5.07505E-06 | |
23505 | 71 | Y/D | 104 | None | 0.1049 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23506 | 72 | F/L | 105 | rs753350142 | 0.1553 | None | gnomAD-2.1.1 | 4.02E-06 | |
23506 | 72 | F/L | 105 | rs753350142 | 0.1553 | None | gnomAD-4.0.0 | 1.59165E-06 | |
23507 | 73 | F/L | 106 | rs764286640 | 0.1200 | None | gnomAD-2.1.1 | 4.02E-06 | |
23507 | 73 | F/L | 106 | rs764286640 | 0.1200 | None | gnomAD-4.0.0 | 3.18322E-06 | |
23508 | 74 | R/G | 107 | rs1709797711 | 0.2314 | None | gnomAD-3.1.2 | 6.57E-06 | |
23508 | 74 | R/G | 107 | rs1709797711 | 0.2314 | None | gnomAD-4.0.0 | 6.57358E-06 | |
23508 | 74 | R/I | 107 | rs1414118885 | 0.2314 | None | gnomAD-2.1.1 | 4.02E-06 | |
23508 | 74 | R/I | 107 | rs1414118885 | 0.2314 | None | gnomAD-4.0.0 | 2.73711E-06 | |
23509 | 75 | V/E | 108 | rs926271333 | 0.0884 | None | gnomAD-4.0.0 | 6.8427E-07 | |
23509 | 75 | V/G | 108 | rs926271333 | 0.0884 | None | gnomAD-4.0.0 | 6.8427E-07 | |
23510 | 76 | M/I | 109 | rs727503569 | 0.1251 | None | gnomAD-3.1.2 | 6.58E-06 | |
23510 | 76 | M/I | 109 | rs727503569 | 0.1251 | None | gnomAD-4.0.0 | 3.71861E-06 | |
23510 | 76 | M/T | 109 | None | 0.1251 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23510 | 76 | M/V | 109 | None | 0.1251 | None | gnomAD-4.0.0 | 1.36852E-06 | |
23511 | 77 | A/G | 110 | rs1709793052 | 0.1188 | None | gnomAD-4.0.0 | 5.4741E-06 | |
23511 | 77 | A/T | 110 | rs1423033072 | 0.1188 | None | gnomAD-2.1.1 | 4.02E-06 | |
23511 | 77 | A/T | 110 | rs1423033072 | 0.1188 | None | gnomAD-4.0.0 | 1.59158E-06 | |
23512 | 78 | E/D | 111 | None | 0.2511 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23512 | 78 | E/G | 111 | None | 0.2511 | None | gnomAD-4.0.0 | 1.59157E-06 | |
23512 | 78 | E/K | 111 | rs752696466 | 0.2511 | None | gnomAD-2.1.1 | 4.02E-06 | |
23512 | 78 | E/K | 111 | rs752696466 | 0.2511 | None | gnomAD-4.0.0 | 1.59154E-06 | |
23513 | 79 | N/S | 112 | rs1553613561 | 0.1029 | None | gnomAD-4.0.0 | 2.05278E-06 | |
23514 | 80 | E/K | 113 | None | 0.3970 | None | gnomAD-4.0.0 | 6.84261E-07 | |
23515 | 81 | Y/C | 114 | None | 0.5847 | None | gnomAD-4.0.0 | 8.89535E-06 | |
23515 | 81 | Y/D | 114 | None | 0.5847 | None | gnomAD-4.0.0 | 1.59154E-06 | |
23518 | 84 | G/A | 118 | None | 0.1694 | None | gnomAD-4.0.0 | 1.59154E-06 | |
23519 | 85 | E/K | 119 | rs1267057579 | 0.6045 | None | gnomAD-2.1.1 | 4.02E-06 | |
23519 | 85 | E/K | 119 | rs1267057579 | 0.6045 | None | gnomAD-4.0.0 | 2.05277E-06 | |
23520 | 86 | P/L | 120 | rs763169614 | 0.5031 | None | gnomAD-2.1.1 | 1.21E-05 | |
23520 | 86 | P/L | 120 | rs763169614 | 0.5031 | None | gnomAD-4.0.0 | 1.98434E-05 | |
23520 | 86 | P/R | 120 | rs763169614 | 0.5031 | None | gnomAD-2.1.1 | 3.19E-05 | |
23520 | 86 | P/R | 120 | rs763169614 | 0.5031 | None | gnomAD-3.1.2 | 6.58E-06 | |
23520 | 86 | P/R | 120 | rs763169614 | 0.5031 | None | gnomAD-4.0.0 | 6.57912E-06 | |
23520 | 86 | P/T | 120 | rs1296805014 | 0.5031 | None | gnomAD-2.1.1 | 3.19E-05 | |
23520 | 86 | P/T | 120 | rs1296805014 | 0.5031 | None | gnomAD-3.1.2 | 6.58E-06 | |
23520 | 86 | P/T | 120 | rs1296805014 | 0.5031 | None | gnomAD-4.0.0 | 6.57756E-06 | |
23521 | 87 | T/I | 121 | rs775589244 | 0.2321 | None | gnomAD-2.1.1 | 4.02E-06 | |
23521 | 87 | T/I | 121 | rs775589244 | 0.2321 | None | gnomAD-4.0.0 | 6.84256E-07 | |
23521 | 87 | T/P | 121 | rs1007385866 | 0.2321 | None | gnomAD-3.1.2 | 6.57E-06 | |
23521 | 87 | T/P | 121 | rs1007385866 | 0.2321 | None | gnomAD-4.0.0 | 6.5735E-06 | |
23521 | 87 | T/R | 121 | rs775589244 | 0.2321 | None | gnomAD-2.1.1 | 3.22E-05 | |
23521 | 87 | T/R | 121 | rs775589244 | 0.2321 | None | gnomAD-3.1.2 | 1.32E-05 | |
23521 | 87 | T/R | 121 | rs775589244 | 0.2321 | None | gnomAD-4.0.0 | 1.73537E-05 | |
23522 | 88 | E/K | 122 | rs561586925 | 0.2834 | None | gnomAD-2.1.1 | 2.41E-05 | |
23522 | 88 | E/K | 122 | rs561586925 | 0.2834 | None | gnomAD-3.1.2 | 1.97E-05 | |
23522 | 88 | E/K | 122 | rs561586925 | 0.2834 | None | 1000 genomes | 1.99681E-04 | |
23522 | 88 | E/K | 122 | rs561586925 | 0.2834 | None | gnomAD-4.0.0 | 7.43646E-06 | |
23524 | 90 | T/A | 124 | rs369526268 | 0.8522 | None | gnomAD-2.1.1 | 2.82E-05 | |
23524 | 90 | T/A | 124 | rs369526268 | 0.8522 | None | gnomAD-3.1.2 | 4.6E-05 | |
23524 | 90 | T/A | 124 | rs369526268 | 0.8522 | None | gnomAD-4.0.0 | 5.57772E-05 | |
23524 | 90 | T/K | 124 | rs748544908 | 0.8522 | None | gnomAD-2.1.1 | 4.02E-06 | |
23524 | 90 | T/K | 124 | rs748544908 | 0.8522 | None | gnomAD-4.0.0 | 6.84257E-07 | |
23524 | 90 | T/R | 124 | None | 0.8522 | None | gnomAD-4.0.0 | 6.84257E-07 | |
23525 | 91 | E/G | 125 | rs1709774465 | 0.5407 | None | gnomAD-4.0.0 | 1.59151E-06 | |
23527 | 93 | V/I | 127 | rs542004766 | 0.1940 | None | gnomAD-2.1.1 | 4.64E-05 | |
23527 | 93 | V/I | 127 | rs542004766 | 0.1940 | None | gnomAD-3.1.2 | 5.92E-05 | |
23527 | 93 | V/I | 127 | rs542004766 | 0.1940 | None | 1000 genomes | 1.99681E-04 | |
23527 | 93 | V/I | 127 | rs542004766 | 0.1940 | None | gnomAD-4.0.0 | 2.60283E-05 | |
23527 | 93 | V/L | 127 | rs542004766 | 0.1940 | None | gnomAD-2.1.1 | 4.02E-06 | |
23527 | 93 | V/L | 127 | rs542004766 | 0.1940 | None | gnomAD-3.1.2 | 6.58E-06 | |
23527 | 93 | V/L | 127 | rs542004766 | 0.1940 | None | gnomAD-4.0.0 | 2.47907E-06 | |
23528 | 94 | K/N | 129 | None | 0.4221 | None | gnomAD-4.0.0 | 1.59151E-06 | |
23529 | 95 | A/V | 130 | rs1709769243 | 0.0876 | None | gnomAD-4.0.0 | 2.73701E-06 | |
23531 | 97 | E/K | 132 | rs1182129747 | 0.5323 | None | gnomAD-3.1.2 | 6.57E-06 | |
23531 | 97 | E/K | 132 | rs1182129747 | 0.5323 | None | gnomAD-4.0.0 | 2.03004E-06 |