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P | P | S | A | P | T | R | P | E | V | Y | H | V | S | A | N | A | M | S | I | R | W | E | E | P | Y | H | D | G | G | S | K | I | I | G | Y | W | V | E | K | K | E | R | N | T | I | L | W | V | K | E | N | K | V | P | C | L | E | C | N | Y | K | V | T | G | L | V | E | G | L | E | Y | Q | F | R | T | Y | A | L | N | A | A | G | V | S | K | A | S | E | A | S | R | P | I | M | A | Q | N | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
31409 | 2 | P/Q | 2 | None | 0.1208 | None | gnomAD-4.0.0 | 2.40065E-06 | |
31409 | 2 | P/S | 2 | rs1464695009 | 0.1208 | None | gnomAD-2.1.1 | 1.24E-05 | |
31409 | 2 | P/S | 2 | rs1464695009 | 0.1208 | None | gnomAD-4.0.0 | 8.07935E-06 | |
31411 | 4 | A/T | 4 | rs745652405 | 0.2303 | None | gnomAD-2.1.1 | 4.01E-05 | |
31411 | 4 | A/T | 4 | rs745652405 | 0.2303 | None | gnomAD-3.1.2 | 1.97E-05 | |
31411 | 4 | A/T | 4 | rs745652405 | 0.2303 | None | gnomAD-4.0.0 | 1.68125E-05 | |
31412 | 5 | P/A | 5 | rs757361681 | 0.1236 | None | gnomAD-2.1.1 | 4.07E-06 | |
31412 | 5 | P/A | 5 | rs757361681 | 0.1236 | None | gnomAD-4.0.0 | 1.37288E-06 | |
31412 | 5 | P/L | 5 | rs1454161350 | 0.1236 | None | gnomAD-2.1.1 | 3.19E-05 | |
31412 | 5 | P/L | 5 | rs1454161350 | 0.1236 | None | gnomAD-3.1.2 | 6.57E-06 | |
31412 | 5 | P/L | 5 | rs1454161350 | 0.1236 | None | gnomAD-4.0.0 | 2.57798E-06 | |
31412 | 5 | P/S | 5 | rs757361681 | 0.1236 | None | gnomAD-2.1.1 | 4.07E-06 | |
31412 | 5 | P/S | 5 | rs757361681 | 0.1236 | None | gnomAD-4.0.0 | 6.86442E-07 | |
31413 | 6 | T/A | 6 | rs1361033922 | 0.3578 | None | gnomAD-2.1.1 | 4.06E-06 | |
31413 | 6 | T/A | 6 | rs1361033922 | 0.3578 | None | gnomAD-4.0.0 | 2.7443E-06 | |
31414 | 7 | R/G | 7 | rs369418580 | 0.3067 | None | gnomAD-2.1.1 | 1.8E-05 | |
31414 | 7 | R/G | 7 | rs369418580 | 0.3067 | None | gnomAD-3.1.2 | 1.97E-05 | |
31414 | 7 | R/G | 7 | rs369418580 | 0.3067 | None | gnomAD-4.0.0 | 1.80127E-05 | |
31415 | 8 | P/L | 9 | rs756168192 | 0.1342 | None | gnomAD-2.1.1 | 4.04E-06 | |
31415 | 8 | P/L | 9 | rs756168192 | 0.1342 | None | gnomAD-4.0.0 | 1.59585E-06 | |
31417 | 10 | V/A | 12 | rs878947167 | 0.2409 | None | gnomAD-2.1.1 | 4.03E-06 | |
31417 | 10 | V/A | 12 | rs878947167 | 0.2409 | None | gnomAD-4.0.0 | 5.47692E-06 | |
31417 | 10 | V/I | 12 | rs1188866872 | 0.2409 | None | gnomAD-3.1.2 | 6.57E-06 | |
31417 | 10 | V/I | 12 | rs1188866872 | 0.2409 | None | gnomAD-4.0.0 | 6.57333E-06 | |
31420 | 13 | V/M | 15 | rs1697609809 | 0.2480 | None | gnomAD-4.0.0 | 6.84396E-07 | |
31422 | 15 | A/P | 17 | rs755395347 | 0.1359 | None | gnomAD-2.1.1 | 4.03E-06 | |
31422 | 15 | A/P | 17 | rs755395347 | 0.1359 | None | gnomAD-4.0.0 | 1.59183E-06 | |
31422 | 15 | A/V | 17 | None | 0.1359 | None | gnomAD-4.0.0 | 1.59161E-06 | |
31423 | 16 | N/H | 18 | rs751814511 | 0.5761 | None | gnomAD-2.1.1 | 4.02E-06 | |
31423 | 16 | N/H | 18 | rs751814511 | 0.5761 | None | gnomAD-4.0.0 | 1.59153E-06 | |
31423 | 16 | N/K | 18 | rs1387191410 | 0.5761 | None | gnomAD-2.1.1 | 4.02E-06 | |
31423 | 16 | N/K | 18 | rs1387191410 | 0.5761 | None | gnomAD-4.0.0 | 1.59148E-06 | |
31424 | 17 | A/P | 19 | None | 0.1413 | None | gnomAD-4.0.0 | 1.59158E-06 | |
31424 | 17 | A/V | 19 | rs1178719189 | 0.1413 | None | gnomAD-4.0.0 | 1.20033E-06 | |
31425 | 18 | M/I | 20 | None | 0.0799 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31425 | 18 | M/K | 20 | rs764947983 | 0.0799 | None | gnomAD-2.1.1 | 3.18E-05 | |
31425 | 18 | M/K | 20 | rs764947983 | 0.0799 | None | gnomAD-3.1.2 | 6.57E-06 | |
31425 | 18 | M/K | 20 | rs764947983 | 0.0799 | None | gnomAD-4.0.0 | 2.56218E-06 | |
31425 | 18 | M/T | 20 | rs764947983 | 0.0799 | None | gnomAD-2.1.1 | 4.02E-06 | |
31425 | 18 | M/T | 20 | rs764947983 | 0.0799 | None | gnomAD-4.0.0 | 1.59138E-06 | |
31426 | 19 | S/F | 21 | rs369284856 | 0.1202 | None | gnomAD-2.1.1 | 8.05E-06 | |
31426 | 19 | S/F | 21 | rs369284856 | 0.1202 | None | gnomAD-3.1.2 | 6.57E-06 | |
31426 | 19 | S/F | 21 | rs369284856 | 0.1202 | None | gnomAD-4.0.0 | 2.56221E-06 | |
31427 | 20 | I/L | 22 | rs776226409 | 0.0772 | None | gnomAD-2.1.1 | 8.04E-06 | |
31427 | 20 | I/L | 22 | rs776226409 | 0.0772 | None | gnomAD-4.0.0 | 4.10533E-06 | |
31427 | 20 | I/V | 22 | None | 0.0772 | None | gnomAD-4.0.0 | 6.84222E-07 | |
31428 | 21 | R/C | 23 | rs190282707 | 0.4449 | None | gnomAD-2.1.1 | 2.5E-05 | |
31428 | 21 | R/C | 23 | rs190282707 | 0.4449 | None | gnomAD-3.1.2 | 3.94E-05 | |
31428 | 21 | R/C | 23 | rs190282707 | 0.4449 | None | gnomAD-4.0.0 | 1.05344E-05 | |
31428 | 21 | R/G | 23 | rs190282707 | 0.4449 | None | gnomAD-2.1.1 | 1.07135E-04 | |
31428 | 21 | R/G | 23 | rs190282707 | 0.4449 | None | gnomAD-3.1.2 | 2.76051E-04 | |
31428 | 21 | R/G | 23 | rs190282707 | 0.4449 | None | gnomAD-4.0.0 | 4.52359E-05 | |
31428 | 21 | R/H | 23 | rs149375775 | 0.4449 | None | gnomAD-2.1.1 | 2.78548E-04 | |
31428 | 21 | R/H | 23 | rs149375775 | 0.4449 | None | gnomAD-3.1.2 | 8.74011E-04 | |
31428 | 21 | R/H | 23 | rs149375775 | 0.4449 | None | 1000 genomes | 5.99042E-04 | |
31428 | 21 | R/H | 23 | rs149375775 | 0.4449 | None | gnomAD-4.0.0 | 1.71026E-04 | |
31428 | 21 | R/S | 23 | None | 0.4449 | None | gnomAD-2.1.1 | 2.5E-05 | |
31428 | 21 | R/S | 23 | None | 0.4449 | None | gnomAD-3.1.2 | 8.54E-05 | |
31428 | 21 | R/S | 23 | None | 0.4449 | None | gnomAD-4.0.0 | 4.27603E-05 | |
31429 | 22 | W/C | 24 | None | 0.1237 | None | gnomAD-4.0.0 | 1.59132E-06 | |
31429 | 22 | W/R | 24 | None | 0.1237 |
TMD |
Literature | None | |
31429 | 22 | W/R | 24 | None | 0.1237 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31430 | 23 | E/G | 25 | rs1697596654 | 0.6618 | None | gnomAD-4.0.0 | 1.5913E-06 | |
31430 | 23 | E/K | 25 | rs868051341 | 0.6618 | None | gnomAD-3.1.2 | 6.57E-06 | |
31430 | 23 | E/K | 25 | rs868051341 | 0.6618 | None | gnomAD-4.0.0 | 3.04484E-06 | |
31431 | 24 | E/G | 26 | None | 0.6711 | None | gnomAD-4.0.0 | 1.5913E-06 | |
31432 | 25 | P/L | 27 | rs759415579 | 0.1626 | None | gnomAD-2.1.1 | 3.22E-05 | |
31432 | 25 | P/L | 27 | rs759415579 | 0.1626 | None | gnomAD-4.0.0 | 1.43685E-05 | |
31434 | 27 | H/Y | 29 | rs773946401 | 0.5411 | None | gnomAD-2.1.1 | 1.21E-05 | |
31434 | 27 | H/Y | 29 | rs773946401 | 0.5411 | None | gnomAD-3.1.2 | 6.57E-06 | |
31434 | 27 | H/Y | 29 | rs773946401 | 0.5411 | None | gnomAD-4.0.0 | 7.68675E-06 | |
31435 | 28 | D/G | 30 | rs1271635080 | 0.2544 | None | gnomAD-2.1.1 | 4.02E-06 | |
31435 | 28 | D/G | 30 | rs1271635080 | 0.2544 | None | gnomAD-4.0.0 | 6.84213E-06 | |
31435 | 28 | D/N | 30 | rs367771286 | 0.2544 | None | gnomAD-2.1.1 | 6.43E-05 | |
31435 | 28 | D/N | 30 | rs367771286 | 0.2544 | None | gnomAD-3.1.2 | 4.6E-05 | |
31435 | 28 | D/N | 30 | rs367771286 | 0.2544 | None | gnomAD-4.0.0 | 6.44479E-05 | |
31436 | 29 | G/D | 31 | rs550306496 | 0.3634 | None | gnomAD-2.1.1 | 8.04E-06 | |
31436 | 29 | G/D | 31 | rs550306496 | 0.3634 | None | gnomAD-3.1.2 | 6.57E-06 | |
31436 | 29 | G/D | 31 | rs550306496 | 0.3634 | None | 1000 genomes | 1.99681E-04 | |
31436 | 29 | G/D | 31 | rs550306496 | 0.3634 | None | gnomAD-4.0.0 | 6.19642E-06 | |
31437 | 30 | G/V | 32 | rs1313606225 | 0.6230 | None | gnomAD-2.1.1 | 3.18E-05 | |
31437 | 30 | G/V | 32 | rs1313606225 | 0.6230 | None | gnomAD-3.1.2 | 6.57E-06 | |
31437 | 30 | G/V | 32 | rs1313606225 | 0.6230 | None | gnomAD-4.0.0 | 3.7182E-06 | |
31438 | 31 | S/N | 33 | rs769930510 | 0.2985 | None | gnomAD-2.1.1 | 8.04E-06 | |
31438 | 31 | S/N | 33 | rs769930510 | 0.2985 | None | gnomAD-4.0.0 | 2.05264E-06 | |
31439 | 32 | K/E | 34 | None | 0.9241 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31441 | 34 | I/F | 36 | None | 0.4313 | None | gnomAD-4.0.0 | 1.59124E-06 | |
31441 | 34 | I/M | 36 | None | 0.4313 | None | gnomAD-4.0.0 | 2.05262E-06 | |
31441 | 34 | I/T | 36 | rs1388468468 | 0.4313 | None | gnomAD-2.1.1 | 4.02E-06 | |
31441 | 34 | I/T | 36 | rs1388468468 | 0.4313 | None | gnomAD-4.0.0 | 8.21044E-06 | |
31441 | 34 | I/V | 36 | None | 0.4313 | None | gnomAD-4.0.0 | 3.18248E-06 | |
31442 | 35 | G/A | 37 | None | 0.1010 | None | gnomAD-4.0.0 | 2.40064E-06 | |
31444 | 37 | W/C | 39 | rs1697578690 | 0.2034 | None | gnomAD-3.1.2 | 6.57E-06 | |
31444 | 37 | W/C | 39 | rs1697578690 | 0.2034 | None | gnomAD-4.0.0 | 6.57289E-06 | |
31444 | 37 | W/R | 39 | rs533447102 | 0.2034 | None | gnomAD-2.1.1 | 5.62E-05 | |
31444 | 37 | W/R | 39 | rs533447102 | 0.2034 | None | gnomAD-3.1.2 | 1.97E-05 | |
31444 | 37 | W/R | 39 | rs533447102 | 0.2034 | None | 1000 genomes | 1.99681E-04 | |
31444 | 37 | W/R | 39 | rs533447102 | 0.2034 | None | gnomAD-4.0.0 | 2.23073E-05 | |
31445 | 38 | V/I | 40 | rs564410456 | 0.1112 | None | gnomAD-2.1.1 | 8.03E-06 | |
31445 | 38 | V/I | 40 | rs564410456 | 0.1112 | None | gnomAD-3.1.2 | 6.57E-06 | |
31445 | 38 | V/I | 40 | rs564410456 | 0.1112 | None | 1000 genomes | 1.99681E-04 | |
31445 | 38 | V/I | 40 | rs564410456 | 0.1112 | None | gnomAD-4.0.0 | 3.09824E-06 | |
31445 | 38 | V/L | 40 | rs564410456 | 0.1112 | None | gnomAD-2.1.1 | 4.02E-06 | |
31445 | 38 | V/L | 40 | rs564410456 | 0.1112 | None | gnomAD-4.0.0 | 6.84202E-07 | |
31446 | 39 | E/A | 41 | None | 0.1240 | None | gnomAD-4.0.0 | 1.5912E-06 | |
31447 | 40 | K/N | 42 | rs1169915824 | 0.1809 | None | gnomAD-2.1.1 | 4.02E-06 | |
31447 | 40 | K/N | 42 | rs1169915824 | 0.1809 | None | gnomAD-4.0.0 | 1.59119E-06 | |
31448 | 41 | K/N | 43 | rs1475927387 | 0.1089 | None | gnomAD-4.0.0 | 1.36839E-06 | |
31449 | 42 | E/K | 44 | rs374474093 | 0.1864 | None | gnomAD-2.1.1 | 4.02E-06 | |
31449 | 42 | E/K | 44 | rs374474093 | 0.1864 | None | gnomAD-4.0.0 | 6.84196E-07 | |
31449 | 42 | E/Q | 44 | rs374474093 | 0.1864 | None | gnomAD-2.1.1 | 4.02E-06 | |
31450 | 43 | R/C | 50 | rs541040798 | 0.5660 | None | gnomAD-2.1.1 | 3.24608E-04 | |
31450 | 43 | R/C | 50 | rs541040798 | 0.5660 | None | gnomAD-3.1.2 | 9.21E-05 | |
31450 | 43 | R/C | 50 | rs541040798 | 0.5660 | None | 1000 genomes | 3.99361E-04 | |
31450 | 43 | R/C | 50 | rs541040798 | 0.5660 | None | gnomAD-4.0.0 | 1.59878E-04 | |
31450 | 43 | R/H | 50 | rs751985617 | 0.5660 | None | gnomAD-2.1.1 | 4.02E-06 | |
31450 | 43 | R/H | 50 | rs751985617 | 0.5660 | None | gnomAD-4.0.0 | 3.421E-06 | |
31452 | 45 | T/K | 60 | rs1270325139 | 0.2677 | None | gnomAD-2.1.1 | 4.02E-06 | |
31452 | 45 | T/K | 60 | rs1270325139 | 0.2677 | None | gnomAD-4.0.0 | 1.59117E-06 | |
31453 | 46 | I/F | 63 | rs780232811 | 1.0897 | None | gnomAD-2.1.1 | 4.02E-06 | |
31453 | 46 | I/F | 63 | rs780232811 | 1.0897 | None | gnomAD-4.0.0 | 6.84196E-07 | |
31453 | 46 | I/V | 63 | rs780232811 | 1.0897 | None | gnomAD-3.1.2 | 1.31E-05 | |
31453 | 46 | I/V | 63 | rs780232811 | 1.0897 | None | gnomAD-4.0.0 | 4.33778E-06 | |
31454 | 47 | L/F | 64 | rs758766295 | 0.7493 | None | gnomAD-2.1.1 | 4.02E-06 | |
31454 | 47 | L/F | 64 | rs758766295 | 0.7493 | None | gnomAD-4.0.0 | 5.47357E-06 | |
31454 | 47 | L/I | 64 | rs758766295 | 0.7493 | None | gnomAD-2.1.1 | 4.02E-06 | |
31454 | 47 | L/I | 64 | rs758766295 | 0.7493 | None | gnomAD-3.1.2 | 6.57E-06 | |
31454 | 47 | L/I | 64 | rs758766295 | 0.7493 | None | gnomAD-4.0.0 | 2.4788E-06 | |
31455 | 48 | W/G | 65 | None | 0.2085 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31455 | 48 | W/R | 65 | rs1697563457 | 0.2085 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31456 | 49 | V/M | 66 | rs1559156264 | 0.4323 | None | gnomAD-2.1.1 | 4.02E-06 | |
31456 | 49 | V/M | 66 | rs1559156264 | 0.4323 | None | gnomAD-3.1.2 | 6.57E-06 | |
31456 | 49 | V/M | 66 | rs1559156264 | 0.4323 | None | gnomAD-4.0.0 | 2.56218E-06 | |
31458 | 51 | E/G | 68 | rs763832963 | 0.1834 | None | gnomAD-2.1.1 | 8.03E-06 | |
31458 | 51 | E/G | 68 | rs763832963 | 0.1834 | None | gnomAD-4.0.0 | 3.18238E-06 | |
31458 | 51 | E/K | 68 | rs1697558384 | 0.1834 | None | gnomAD-4.0.0 | 1.5912E-06 | |
31460 | 53 | K/Q | 70 | None | 0.9864 | None | gnomAD-4.0.0 | 1.36839E-06 | |
31460 | 53 | K/R | 70 | None | 0.9864 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31461 | 54 | V/L | 72 | rs1206905148 | 0.6322 | None | gnomAD-3.1.2 | 6.57E-06 | |
31461 | 54 | V/L | 72 | rs1206905148 | 0.6322 | None | gnomAD-4.0.0 | 6.57307E-06 | |
31462 | 55 | P/A | 75 | None | 0.2327 | None | gnomAD-4.0.0 | 6.84202E-07 | |
31462 | 55 | P/S | 75 | rs1311115144 | 0.2327 | None | gnomAD-4.0.0 | 6.84202E-07 | |
31462 | 55 | P/T | 75 | rs1311115144 | 0.2327 | None | gnomAD-3.1.2 | 6.58E-06 | |
31462 | 55 | P/T | 75 | rs1311115144 | 0.2327 | None | gnomAD-4.0.0 | 6.5754E-06 | |
31463 | 56 | C/G | 77 | None | 0.1345 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31463 | 56 | C/Y | 77 | rs760317660 | 0.1345 | None | gnomAD-2.1.1 | 4.02E-06 | |
31465 | 58 | E/K | 88 | rs752194452 | 0.6752 | None | gnomAD-2.1.1 | 1.07E-05 | |
31465 | 58 | E/K | 88 | rs752194452 | 0.6752 | None | gnomAD-3.1.2 | 3.94E-05 | |
31465 | 58 | E/K | 88 | rs752194452 | 0.6752 | None | gnomAD-4.0.0 | 5.57718E-06 | |
31465 | 58 | E/Q | 88 | None | 0.6752 | None | gnomAD-4.0.0 | 2.05261E-06 | |
31466 | 59 | C/G | 89 | rs1697549166 | 0.1215 | None | gnomAD-4.0.0 | 1.59128E-06 | |
31468 | 61 | Y/C | 91 | None | 0.2402 | None | gnomAD-4.0.0 | 4.10523E-06 | |
31471 | 64 | T/I | 94 | rs759347301 | 0.4819 | None | gnomAD-2.1.1 | 1.2E-05 | |
31471 | 64 | T/I | 94 | rs759347301 | 0.4819 | None | gnomAD-4.0.0 | 1.02632E-05 | |
31472 | 65 | G/S | 96 | rs1331080177 | 0.4836 | None | gnomAD-2.1.1 | 8.03E-06 | |
31472 | 65 | G/S | 96 | rs1331080177 | 0.4836 | None | gnomAD-4.0.0 | 2.05263E-06 | |
31473 | 66 | L/S | 97 | None | 0.1207 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31474 | 67 | V/A | 98 | rs1401860835 | 0.5218 | None | gnomAD-2.1.1 | 4.02E-06 | |
31474 | 67 | V/A | 98 | rs1401860835 | 0.5218 | None | gnomAD-4.0.0 | 1.59129E-06 | |
31474 | 67 | V/I | 98 | rs1410759884 | 0.5218 | None | gnomAD-2.1.1 | 7.13E-06 | |
31474 | 67 | V/I | 98 | rs1410759884 | 0.5218 | None | gnomAD-3.1.2 | 1.31E-05 | |
31474 | 67 | V/I | 98 | rs1410759884 | 0.5218 | None | gnomAD-4.0.0 | 3.84307E-06 | |
31475 | 68 | E/Q | 99 | rs1171182062 | 0.5002 | None | gnomAD-2.1.1 | 3.19E-05 | |
31475 | 68 | E/Q | 99 | rs1171182062 | 0.5002 | None | gnomAD-3.1.2 | 6.57E-06 | |
31475 | 68 | E/Q | 99 | rs1171182062 | 0.5002 | None | gnomAD-4.0.0 | 6.57177E-06 | |
31476 | 69 | G/R | 100 | rs1481659337 | 0.2576 | None | gnomAD-2.1.1 | 4.02E-06 | |
31476 | 69 | G/R | 100 | rs1481659337 | 0.2576 | None | gnomAD-4.0.0 | 1.5913E-06 | |
31480 | 73 | Q/E | 105 | None | 0.1814 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31480 | 73 | Q/H | 105 | rs1182145400 | 0.1814 | None | gnomAD-2.1.1 | 4.02E-06 | |
31480 | 73 | Q/H | 105 | rs1182145400 | 0.1814 | None | gnomAD-4.0.0 | 1.59132E-06 | |
31481 | 74 | F/L | 106 | None | 0.1234 | None | gnomAD-4.0.0 | 1.16316E-05 | |
31482 | 75 | R/T | 107 | None | 0.1301 | None | gnomAD-4.0.0 | 1.59132E-06 | |
31488 | 81 | A/D | 113 | None | 0.6642 | None | gnomAD-4.0.0 | 1.59141E-06 | |
31489 | 82 | A/S | 114 | rs773485371 | 0.5225 | None | gnomAD-2.1.1 | 4.02E-06 | |
31490 | 83 | G/D | 115 | None | 0.1991 | None | gnomAD-4.0.0 | 2.05278E-06 | |
31490 | 83 | G/R | 115 | None | 0.1991 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31491 | 84 | V/F | 117 | None | 0.3311 | None | gnomAD-4.0.0 | 2.40064E-06 | |
31494 | 87 | A/D | 120 | rs748231785 | 0.2089 | None | gnomAD-2.1.1 | 4.03E-06 | |
31494 | 87 | A/D | 120 | rs748231785 | 0.2089 | None | gnomAD-4.0.0 | 3.18423E-06 | |
31494 | 87 | A/T | 120 | rs769948504 | 0.2089 | None | gnomAD-2.1.1 | 8.05E-06 | |
31494 | 87 | A/T | 120 | rs769948504 | 0.2089 | None | gnomAD-4.0.0 | 5.4749E-06 | |
31495 | 88 | S/N | 121 | rs1329167679 | 0.1147 | None | gnomAD-3.1.2 | 1.31E-05 | |
31495 | 88 | S/N | 121 | rs1329167679 | 0.1147 | None | gnomAD-4.0.0 | 2.47939E-06 | |
31496 | 89 | E/K | 122 | rs769175534 | 0.4535 | None | gnomAD-2.1.1 | 2.82E-05 | |
31496 | 89 | E/K | 122 | rs769175534 | 0.4535 | None | gnomAD-3.1.2 | 6.57E-06 | |
31496 | 89 | E/K | 122 | rs769175534 | 0.4535 | None | gnomAD-4.0.0 | 1.30175E-05 | |
31496 | 89 | E/Q | 122 | None | 0.4535 | None | gnomAD-4.0.0 | 6.84448E-07 | |
31497 | 90 | A/T | 123 | rs1371205000 | 0.1894 | None | gnomAD-2.1.1 | 4.03E-06 | |
31497 | 90 | A/T | 123 | rs1371205000 | 0.1894 | None | gnomAD-3.1.2 | 6.57E-06 | |
31497 | 90 | A/T | 123 | rs1371205000 | 0.1894 | None | gnomAD-4.0.0 | 2.56464E-06 | |
31498 | 91 | S/L | 124 | rs1281357207 | 0.1178 | None | gnomAD-2.1.1 | 4.03E-06 | |
31498 | 91 | S/L | 124 | rs1281357207 | 0.1178 | None | gnomAD-4.0.0 | 1.36918E-06 | |
31499 | 92 | R/I | 125 | None | 0.8855 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31500 | 93 | P/L | 126 | None | 0.3955 | None | gnomAD-4.0.0 | 1.36998E-06 | |
31500 | 93 | P/R | 126 | rs747518732 | 0.3955 | None | gnomAD-2.1.1 | 4.03E-06 | |
31500 | 93 | P/R | 126 | rs747518732 | 0.3955 | None | gnomAD-3.1.2 | 6.57E-06 | |
31500 | 93 | P/R | 126 | rs747518732 | 0.3955 | None | gnomAD-4.0.0 | 1.86097E-06 | |
31500 | 93 | P/S | 126 | None | 0.3955 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31501 | 94 | I/L | 127 | None | 0.3314 | None | gnomAD-4.0.0 | 6.84981E-07 | |
31501 | 94 | I/T | 127 | rs758756316 | 0.3314 | None | gnomAD-2.1.1 | 1.21E-05 | |
31501 | 94 | I/T | 127 | rs758756316 | 0.3314 | None | gnomAD-4.0.0 | 2.55288E-05 | |
31501 | 94 | I/V | 127 | rs780578358 | 0.3314 | None | gnomAD-2.1.1 | 4.03E-06 | |
31501 | 94 | I/V | 127 | rs780578358 | 0.3314 | None | gnomAD-3.1.2 | 1.31E-05 | |
31501 | 94 | I/V | 127 | rs780578358 | 0.3314 | None | gnomAD-4.0.0 | 7.44366E-06 | |
31502 | 95 | M/T | 129 | None | 0.2747 | None | gnomAD-4.0.0 | 1.20033E-06 | |
31503 | 96 | A/T | 130 | rs375657115 | 0.0614 | None | gnomAD-2.1.1 | 5.04E-05 | |
31503 | 96 | A/T | 130 | rs375657115 | 0.0614 | None | gnomAD-3.1.2 | 4.6E-05 | |
31503 | 96 | A/T | 130 | rs375657115 | 0.0614 | None | 1000 genomes | 1.99681E-04 | |
31503 | 96 | A/T | 130 | rs375657115 | 0.0614 | None | gnomAD-4.0.0 | 5.28468E-05 | |
31504 | 97 | Q/P | 131 | rs777578106 | 0.3893 | None | gnomAD-2.1.1 | 8.11E-06 | |
31504 | 97 | Q/P | 131 | rs777578106 | 0.3893 | None | gnomAD-4.0.0 | 3.208E-06 | |
31505 | 98 | N/T | 132 | rs755756435 | 0.6393 | None | gnomAD-2.1.1 | 1.22E-05 | |
31505 | 98 | N/T | 132 | rs755756435 | 0.6393 | None | gnomAD-4.0.0 | 3.43351E-06 |