10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
R | P | G | P | P | E | G | P | L | K | V | T | G | V | T | A | E | K | C | Y | L | A | W | N | P | P | L | Q | D | G | G | A | N | I | S | H | Y | I | I | E | K | R | E | T | S | R | L | S | W | T | Q | V | S | T | E | V | Q | A | L | N | Y | K | V | T | K | L | L | P | G | N | E | Y | I | F | R | V | M | A | V | N | K | Y | G | I | G | E | P | L | E | S | G | P | V | T | A | C | N | P | Y | K | P | P | G | P | P | S | T | P | E | V | S | A | I | T | K | D | S | M | V | V | T | W | A | R | P | V | D | D | G | G | T | E | I | E | G | Y | I | L | E | K | R | D | K | E | G | V | R | W | T | K | C | N | K | K | T | L | T | D | L | R | L | R | V | T | G | L | T | E | G | H | S | Y | E | F | R | V | A | A | E | N | A | A | G | V | G | E | P | S | E | P | S | V | F | Y | R | A | C | D | A |
R | P | G | P | P | E | G | P | L | K | V | T | G | V | T | A | E | K | C | Y | L | A | W | N | P | P | L | Q | D | G | G | A | N | I | S | H | Y | I | I | E | K | R | E | T | S | R | L | S | W | T | Q | V | S | T | E | V | Q | A | L | N | Y | K | V | T | K | L | L | P | G | N | E | Y | I | F | R | V | M | A | V | N | K | Y | G | I | G | E | P | L | E | S | G | P | V | T | A | C | N | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
27369 | 1 | R/K | 1 | rs774715672 | 0.5620 | None | gnomAD-2.1.1 | 1.61E-05 | |
27369 | 1 | R/K | 1 | rs774715672 | 0.5620 | None | gnomAD-3.1.2 | 1.31E-05 | |
27369 | 1 | R/K | 1 | rs774715672 | 0.5620 | None | gnomAD-4.0.0 | 9.29575E-06 | |
27370 | 2 | P/L | 2 | rs1396821599 | 0.1095 | None | gnomAD-2.1.1 | 4.02E-06 | |
27370 | 2 | P/L | 2 | rs1396821599 | 0.1095 | None | gnomAD-4.0.0 | 1.59134E-06 | |
27370 | 2 | P/T | 2 | None | 0.1095 | None | gnomAD-4.0.0 | 4.10533E-06 | |
27371 | 3 | G/E | 3 | rs766785319 | 0.2134 | None | gnomAD-2.1.1 | 8.05E-06 | |
27371 | 3 | G/E | 3 | rs766785319 | 0.2134 | None | gnomAD-3.1.2 | 2.63E-05 | |
27371 | 3 | G/E | 3 | rs766785319 | 0.2134 | None | gnomAD-4.0.0 | 1.11554E-05 | |
27371 | 3 | G/R | 3 | rs1019913774 | 0.2134 | None | gnomAD-3.1.2 | 6.57E-06 | |
27371 | 3 | G/R | 3 | rs1019913774 | 0.2134 | None | gnomAD-4.0.0 | 6.57419E-06 | |
27372 | 4 | P/R | 4 | None | 0.3644 | None | gnomAD-4.0.0 | 1.59134E-06 | |
27372 | 4 | P/S | 4 | rs1287205407 | 0.3644 | None | gnomAD-2.1.1 | 4.02E-06 | |
27372 | 4 | P/T | 4 | rs1287205407 | 0.3644 | None | gnomAD-2.1.1 | 4.02E-06 | |
27372 | 4 | P/T | 4 | rs1287205407 | 0.3644 | None | gnomAD-4.0.0 | 1.59136E-06 | |
27375 | 7 | G/E | 7 | rs776304593 | 0.4999 | None | gnomAD-2.1.1 | 1.21E-05 | |
27375 | 7 | G/E | 7 | rs776304593 | 0.4999 | None | gnomAD-4.0.0 | 3.42117E-06 | |
27375 | 7 | G/R | 7 | rs557567114 | 0.4999 | None | gnomAD-2.1.1 | 5.23E-05 | |
27375 | 7 | G/R | 7 | rs557567114 | 0.4999 | None | 1000 genomes | None | |
27375 | 7 | G/R | 7 | rs557567114 | 0.4999 | None | gnomAD-4.0.0 | 6.84231E-07 | |
27376 | 8 | P/T | 8 | rs1704684984 | 0.7554 | None | gnomAD-3.1.2 | 6.57E-06 | |
27376 | 8 | P/T | 8 | rs1704684984 | 0.7554 | None | gnomAD-4.0.0 | 2.47897E-06 | |
27377 | 9 | L/P | 9 | None | 0.1325 | None | gnomAD-4.0.0 | 1.36847E-06 | |
27378 | 10 | K/T | 11 | rs886055240 | 0.6810 | None | gnomAD-2.1.1 | 8.05E-06 | |
27378 | 10 | K/T | 11 | rs886055240 | 0.6810 | None | gnomAD-3.1.2 | 6.58E-06 | |
27378 | 10 | K/T | 11 | rs886055240 | 0.6810 | None | gnomAD-4.0.0 | 4.33821E-06 | |
27379 | 11 | V/L | 12 | None | 0.2635 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27383 | 15 | T/A | 16 | rs768253514 | 0.1332 | None | gnomAD-2.1.1 | 4.03E-06 | |
27383 | 15 | T/A | 16 | rs768253514 | 0.1332 | None | gnomAD-4.0.0 | 6.84242E-07 | |
27383 | 15 | T/I | 16 | rs746519411 | 0.1332 | None | gnomAD-2.1.1 | 1.21E-05 | |
27383 | 15 | T/I | 16 | rs746519411 | 0.1332 | None | gnomAD-4.0.0 | 5.47393E-06 | |
27384 | 16 | A/E | 17 | rs775005409 | 0.1251 | None | gnomAD-2.1.1 | 4.03E-06 | |
27384 | 16 | A/E | 17 | rs775005409 | 0.1251 | None | gnomAD-4.0.0 | 2.05274E-06 | |
27384 | 16 | A/V | 17 | rs775005409 | 0.1251 | None | gnomAD-2.1.1 | 2.5E-05 | |
27384 | 16 | A/V | 17 | rs775005409 | 0.1251 | None | gnomAD-3.1.2 | 1.97E-05 | |
27384 | 16 | A/V | 17 | rs775005409 | 0.1251 | None | gnomAD-4.0.0 | 1.48747E-05 | |
27385 | 17 | E/G | 18 | rs745887048 | 0.6659 | None | gnomAD-2.1.1 | 7.15E-06 | |
27385 | 17 | E/G | 18 | rs745887048 | 0.6659 | None | gnomAD-3.1.2 | 1.31E-05 | |
27385 | 17 | E/G | 18 | rs745887048 | 0.6659 | None | gnomAD-4.0.0 | 3.84369E-06 | |
27385 | 17 | E/K | 18 | None | 0.6659 | None | gnomAD-4.0.0 | 1.59143E-06 | |
27387 | 19 | C/Y | 20 | rs1704671662 | 0.0757 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27390 | 22 | A/T | 23 | rs1249245369 | 0.2306 | None | gnomAD-2.1.1 | 4.03E-06 | |
27390 | 22 | A/T | 23 | rs1249245369 | 0.2306 | None | gnomAD-4.0.0 | 1.36848E-06 | |
27391 | 23 | W/R | 24 | rs778983249 | 0.1184 | None | gnomAD-2.1.1 | 4.03E-06 | |
27391 | 23 | W/R | 24 | rs778983249 | 0.1184 | None | gnomAD-4.0.0 | 4.78965E-06 | |
27392 | 24 | N/I | 25 | None | 0.5084 | None | gnomAD-4.0.0 | 1.5914E-06 | |
27392 | 24 | N/K | 25 | rs1421975284 | 0.5084 | None | gnomAD-2.1.1 | 3.19E-05 | |
27392 | 24 | N/K | 25 | rs1421975284 | 0.5084 | None | gnomAD-3.1.2 | 6.58E-06 | |
27392 | 24 | N/K | 25 | rs1421975284 | 0.5084 | None | gnomAD-4.0.0 | 6.57505E-06 | |
27393 | 25 | P/A | 26 | None | 0.4103 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27393 | 25 | P/L | 26 | rs1267590455 | 0.4103 | None | gnomAD-2.1.1 | 4.03E-06 | |
27393 | 25 | P/L | 26 | rs1267590455 | 0.4103 | None | gnomAD-4.0.0 | 1.59142E-06 | |
27394 | 26 | P/S | 27 | None | 0.1556 | None | gnomAD-4.0.0 | 3.18284E-06 | |
27394 | 26 | P/T | 27 | None | 0.1556 | None | gnomAD-4.0.0 | 3.18284E-06 | |
27395 | 27 | L/V | 28 | rs1304635139 | 0.9286 | None | gnomAD-3.1.2 | 3.29E-05 | |
27395 | 27 | L/V | 28 | rs1304635139 | 0.9286 | None | gnomAD-4.0.0 | 6.09032E-06 | |
27396 | 28 | Q/E | 29 | rs371604558 | 0.8122 | None | gnomAD-2.1.1 | 2.82E-05 | |
27396 | 28 | Q/E | 29 | rs371604558 | 0.8122 | None | gnomAD-3.1.2 | 7.23E-05 | |
27396 | 28 | Q/E | 29 | rs371604558 | 0.8122 | None | gnomAD-4.0.0 | 2.1072E-05 | |
27396 | 28 | Q/L | 29 | rs367804525 | 0.8122 | None | gnomAD-2.1.1 | 2.82E-05 | |
27396 | 28 | Q/L | 29 | rs367804525 | 0.8122 | None | gnomAD-3.1.2 | 7.23E-05 | |
27396 | 28 | Q/L | 29 | rs367804525 | 0.8122 | None | gnomAD-4.0.0 | 2.10706E-05 | |
27396 | 28 | Q/R | 29 | rs367804525 | 0.8122 | None | gnomAD-2.1.1 | 4.02E-06 | |
27396 | 28 | Q/R | 29 | rs367804525 | 0.8122 | None | gnomAD-3.1.2 | 6.57E-06 | |
27396 | 28 | Q/R | 29 | rs367804525 | 0.8122 | None | gnomAD-4.0.0 | 1.23945E-06 | |
27397 | 29 | D/A | 30 | None | 0.3065 | None | gnomAD-4.0.0 | 6.84238E-07 | |
27397 | 29 | D/V | 30 | rs1230727377 | 0.3065 | None | gnomAD-2.1.1 | 4.02E-06 | |
27397 | 29 | D/V | 30 | rs1230727377 | 0.3065 | None | gnomAD-4.0.0 | 1.36848E-06 | |
27398 | 30 | G/A | 31 | None | 0.3026 | None | gnomAD-4.0.0 | 6.84239E-07 | |
27398 | 30 | G/D | 31 | rs1553574305 | 0.3026 | None | gnomAD-4.0.0 | 1.36848E-06 | |
27398 | 30 | G/S | 31 | None | 0.3026 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27399 | 31 | G/D | 32 | None | 0.5857 | None | gnomAD-4.0.0 | 4.80129E-06 | |
27399 | 31 | G/S | 32 | None | 0.5857 | None | gnomAD-4.0.0 | 3.18286E-06 | |
27400 | 32 | A/T | 33 | None | 0.1725 | None | gnomAD-4.0.0 | 1.36848E-06 | |
27401 | 33 | N/D | 34 | rs1365991014 | 0.9804 | None | gnomAD-2.1.1 | 4.02E-06 | |
27401 | 33 | N/D | 34 | rs1365991014 | 0.9804 | None | gnomAD-4.0.0 | 3.18284E-06 | |
27402 | 34 | I/T | 35 | rs1440068759 | 0.2138 | None | gnomAD-2.1.1 | 8.05E-06 | |
27402 | 34 | I/T | 35 | rs1440068759 | 0.2138 | None | gnomAD-3.1.2 | 1.97E-05 | |
27402 | 34 | I/T | 35 | rs1440068759 | 0.2138 | None | gnomAD-4.0.0 | 1.15314E-05 | |
27402 | 34 | I/V | 35 | rs1321218622 | 0.2138 | None | gnomAD-2.1.1 | 4.02E-06 | |
27405 | 37 | Y/C | 38 | None | 0.1027 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27405 | 37 | Y/N | 38 | None | 0.1027 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27407 | 39 | I/T | 40 | rs376037252 | 0.0751 | None | gnomAD-2.1.1 | 5E-05 | |
27407 | 39 | I/T | 40 | rs376037252 | 0.0751 | None | gnomAD-3.1.2 | 5.92E-05 | |
27407 | 39 | I/T | 40 | rs376037252 | 0.0751 | None | 1000 genomes | 1.99681E-04 | |
27407 | 39 | I/T | 40 | rs376037252 | 0.0751 | None | gnomAD-4.0.0 | 7.5603E-05 | |
27407 | 39 | I/V | 40 | rs752734736 | 0.0751 | None | gnomAD-4.0.0 | 1.59139E-06 | |
27408 | 40 | E/G | 41 | None | 0.1313 | None | gnomAD-4.0.0 | 1.59138E-06 | |
27409 | 41 | K/E | 42 | None | 0.1872 | None | gnomAD-4.0.0 | 2.40064E-06 | |
27409 | 41 | K/N | 42 | rs1372169120 | 0.1872 | None | gnomAD-2.1.1 | 4.02E-06 | |
27409 | 41 | K/N | 42 | rs1372169120 | 0.1872 | None | gnomAD-4.0.0 | 1.59139E-06 | |
27410 | 42 | R/K | 43 | None | 0.2253 | None | gnomAD-4.0.0 | 3.60097E-06 | |
27412 | 44 | T/K | 50 | rs201489661 | 0.3527 | None | gnomAD-2.1.1 | 3.94239E-04 | |
27412 | 44 | T/K | 50 | rs201489661 | 0.3527 | None | gnomAD-3.1.2 | 1.90652E-04 | |
27412 | 44 | T/K | 50 | rs201489661 | 0.3527 | None | gnomAD-4.0.0 | 2.37958E-04 | |
27412 | 44 | T/R | 50 | rs201489661 | 0.3527 | None | gnomAD-2.1.1 | 4.02E-05 | |
27412 | 44 | T/R | 50 | rs201489661 | 0.3527 | None | gnomAD-3.1.2 | 3.29E-05 | |
27412 | 44 | T/R | 50 | rs201489661 | 0.3527 | None | gnomAD-4.0.0 | 1.61117E-05 | |
27414 | 46 | R/Q | 60 | rs763336230 | 0.4576 | None | gnomAD-2.1.1 | 4.64E-05 | |
27414 | 46 | R/Q | 60 | rs763336230 | 0.4576 | None | gnomAD-3.1.2 | 3.29E-05 | |
27414 | 46 | R/Q | 60 | rs763336230 | 0.4576 | None | gnomAD-4.0.0 | 2.54092E-05 | |
27416 | 48 | S/F | 64 | None | 0.5059 | None | gnomAD-4.0.0 | 1.36846E-06 | |
27417 | 49 | W/C | 65 | None | 0.2401 | None | gnomAD-4.0.0 | 1.5914E-06 | |
27418 | 50 | T/I | 66 | rs750733161 | 0.4743 | None | gnomAD-2.1.1 | 8.04E-06 | |
27418 | 50 | T/I | 66 | rs750733161 | 0.4743 | None | gnomAD-4.0.0 | 2.73694E-06 | |
27418 | 50 | T/S | 66 | None | 0.4743 | None | gnomAD-4.0.0 | 3.60097E-06 | |
27422 | 54 | T/A | 70 | rs760304866 | 0.4557 | None | gnomAD-2.1.1 | 4.02E-06 | |
27422 | 54 | T/A | 70 | rs760304866 | 0.4557 | None | gnomAD-4.0.0 | 1.75048E-05 | |
27423 | 55 | E/D | 75 | rs775004192 | 0.7387 | None | gnomAD-2.1.1 | 2.5E-05 | |
27423 | 55 | E/D | 75 | rs775004192 | 0.7387 | None | gnomAD-3.1.2 | 6.57E-06 | |
27423 | 55 | E/K | 75 | rs1486346584 | 0.7387 | None | gnomAD-2.1.1 | 3.19E-05 | |
27423 | 55 | E/K | 75 | rs1486346584 | 0.7387 | None | gnomAD-3.1.2 | 1.31E-05 | |
27423 | 55 | E/K | 75 | rs1486346584 | 0.7387 | None | gnomAD-4.0.0 | 1.85915E-06 | |
27424 | 56 | V/I | 77 | rs771672985 | 0.1120 | None | gnomAD-2.1.1 | 4.02E-06 | |
27424 | 56 | V/I | 77 | rs771672985 | 0.1120 | None | gnomAD-3.1.2 | 6.57E-06 | |
27424 | 56 | V/I | 77 | rs771672985 | 0.1120 | None | gnomAD-4.0.0 | 2.02999E-06 | |
27425 | 57 | Q/R | 83 | rs1302788050 | 0.8314 | None | gnomAD-2.1.1 | 4.02E-06 | |
27425 | 57 | Q/R | 83 | rs1302788050 | 0.8314 | None | gnomAD-4.0.0 | 6.36547E-06 | |
27426 | 58 | A/D | 88 | rs774473418 | 0.3328 | None | gnomAD-2.1.1 | 4.02E-06 | |
27426 | 58 | A/G | 88 | None | 0.3328 | None | gnomAD-3.1.2 | 6.57E-06 | |
27426 | 58 | A/G | 88 | None | 0.3328 | None | gnomAD-4.0.0 | 6.57471E-06 | |
27426 | 58 | A/V | 88 | rs774473418 | 0.3328 | None | gnomAD-2.1.1 | 1.61E-05 | |
27426 | 58 | A/V | 88 | rs774473418 | 0.3328 | None | gnomAD-3.1.2 | 6.57E-06 | |
27426 | 58 | A/V | 88 | rs774473418 | 0.3328 | None | gnomAD-4.0.0 | 1.40937E-05 | |
27428 | 60 | N/K | 90 | rs749118760 | 0.5237 | None | gnomAD-2.1.1 | 4.02E-06 | |
27428 | 60 | N/K | 90 | rs749118760 | 0.5237 | None | gnomAD-4.0.0 | 2.0527E-06 | |
27429 | 61 | Y/H | 91 | rs1387188018 | 0.2710 | None | gnomAD-2.1.1 | 8.05E-06 | |
27429 | 61 | Y/H | 91 | rs1387188018 | 0.2710 | None | gnomAD-3.1.2 | 6.57E-06 | |
27429 | 61 | Y/H | 91 | rs1387188018 | 0.2710 | None | gnomAD-4.0.0 | 1.61129E-05 | |
27430 | 62 | K/N | 92 | None | 0.3343 | None | gnomAD-4.0.0 | 1.59134E-06 | |
27430 | 62 | K/R | 92 | None | 0.3343 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27432 | 64 | T/N | 94 | None | 0.4117 | None | gnomAD-4.0.0 | 1.59136E-06 | |
27434 | 66 | L/F | 97 | rs777655678 | 0.0966 | None | gnomAD-2.1.1 | 3.19E-05 | |
27434 | 66 | L/F | 97 | rs777655678 | 0.0966 | None | gnomAD-3.1.2 | 6.57E-06 | |
27434 | 66 | L/F | 97 | rs777655678 | 0.0966 | None | gnomAD-4.0.0 | 6.817E-06 | |
27434 | 66 | L/V | 97 | rs777655678 | 0.0966 | None | gnomAD-2.1.1 | 4.02E-06 | |
27434 | 66 | L/V | 97 | rs777655678 | 0.0966 | None | gnomAD-4.0.0 | 6.84228E-07 | |
27435 | 67 | L/I | 98 | rs1060500432 | 0.6026 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27436 | 68 | P/S | 99 | None | 0.5078 | None | gnomAD-4.0.0 | 3.18268E-06 | |
27437 | 69 | G/S | 100 | rs1431238411 | 0.3853 | None | gnomAD-2.1.1 | 4.02E-06 | |
27437 | 69 | G/S | 100 | rs1431238411 | 0.3853 | None | gnomAD-4.0.0 | 1.59136E-06 | |
27438 | 70 | N/D | 102 | rs2154161681 | 0.3065 | None | gnomAD-4.0.0 | 1.59138E-06 | |
27439 | 71 | E/K | 103 | rs748460030 | 0.2717 | None | gnomAD-2.1.1 | 7.15E-06 | |
27439 | 71 | E/K | 103 | rs748460030 | 0.2717 | None | gnomAD-3.1.2 | 1.97E-05 | |
27439 | 71 | E/K | 103 | rs748460030 | 0.2717 | None | gnomAD-4.0.0 | 3.0987E-06 | |
27440 | 72 | Y/C | 104 | rs781246930 | 0.0870 | None | gnomAD-2.1.1 | 4.02E-06 | |
27440 | 72 | Y/C | 104 | rs781246930 | 0.0870 | None | gnomAD-4.0.0 | 1.59137E-06 | |
27442 | 74 | F/I | 106 | None | 0.1184 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27443 | 75 | R/C | 107 | rs755125180 | 0.1303 | None | gnomAD-2.1.1 | 4.03E-06 | |
27443 | 75 | R/C | 107 | rs755125180 | 0.1303 | None | gnomAD-3.1.2 | 6.58E-06 | |
27443 | 75 | R/C | 107 | rs755125180 | 0.1303 | None | gnomAD-4.0.0 | 6.81732E-06 | |
27443 | 75 | R/H | 107 | rs551496477 | 0.1303 | None | gnomAD-2.1.1 | 4.03E-06 | |
27443 | 75 | R/H | 107 | rs551496477 | 0.1303 | None | gnomAD-3.1.2 | 1.32E-05 | |
27443 | 75 | R/H | 107 | rs551496477 | 0.1303 | None | gnomAD-4.0.0 | 1.92125E-05 | |
27443 | 75 | R/L | 107 | rs551496477 | 0.1303 | None | gnomAD-2.1.1 | 1.61E-05 | |
27443 | 75 | R/L | 107 | rs551496477 | 0.1303 | None | gnomAD-3.1.2 | 6.58E-06 | |
27443 | 75 | R/L | 107 | rs551496477 | 0.1303 | None | 1000 genomes | 1.99681E-04 | |
27443 | 75 | R/L | 107 | rs551496477 | 0.1303 | None | gnomAD-4.0.0 | 4.9577E-06 | |
27444 | 76 | V/A | 108 | None | 0.0783 | None | gnomAD-4.0.0 | 1.59134E-06 | |
27445 | 77 | M/T | 109 | None | 0.0976 | None | gnomAD-4.0.0 | 2.40064E-06 | |
27446 | 78 | A/T | 110 | rs1200170296 | 0.0856 | None | gnomAD-2.1.1 | 4.03E-06 | |
27446 | 78 | A/T | 110 | rs1200170296 | 0.0856 | None | gnomAD-3.1.2 | 6.58E-06 | |
27446 | 78 | A/T | 110 | rs1200170296 | 0.0856 | None | gnomAD-4.0.0 | 3.844E-06 | |
27446 | 78 | A/V | 110 | rs780558473 | 0.0856 | None | gnomAD-2.1.1 | 8.05E-06 | |
27446 | 78 | A/V | 110 | rs780558473 | 0.0856 | None | gnomAD-4.0.0 | 6.15804E-06 | |
27447 | 79 | V/M | 111 | rs758840788 | 0.1044 | None | gnomAD-2.1.1 | 8.05E-06 | |
27447 | 79 | V/M | 111 | rs758840788 | 0.1044 | None | gnomAD-4.0.0 | 4.77417E-06 | |
27449 | 81 | K/I | 113 | rs750788494 | 0.4638 | None | gnomAD-2.1.1 | 4.03E-06 | |
27449 | 81 | K/Q | 113 | rs925851202 | 0.4638 | None | gnomAD-3.1.2 | 6.57E-06 | |
27449 | 81 | K/Q | 113 | rs925851202 | 0.4638 | None | gnomAD-4.0.0 | 6.57488E-06 | |
27451 | 83 | G/R | 115 | rs528438328 | 0.2196 | None | gnomAD-2.1.1 | 4.03E-06 | |
27451 | 83 | G/R | 115 | rs528438328 | 0.2196 | None | gnomAD-3.1.2 | 6.58E-06 | |
27451 | 83 | G/R | 115 | rs528438328 | 0.2196 | None | 1000 genomes | 1.99681E-04 | |
27451 | 83 | G/R | 115 | rs528438328 | 0.2196 | None | gnomAD-4.0.0 | 6.56996E-06 | |
27453 | 85 | G/E | 118 | rs1036707578 | 0.1247 | None | gnomAD-2.1.1 | 4.03E-06 | |
27453 | 85 | G/E | 118 | rs1036707578 | 0.1247 | None | gnomAD-4.0.0 | 1.59139E-06 | |
27454 | 86 | E/K | 119 | rs1704595513 | 0.5379 | None | gnomAD-4.0.0 | 1.59137E-06 | |
27455 | 87 | P/T | 120 | None | 0.3261 | None | gnomAD-4.0.0 | 1.59138E-06 | |
27456 | 88 | L/F | 121 | rs1233877374 | 0.1297 | None | gnomAD-4.0.0 | 1.36846E-06 | |
27456 | 88 | L/M | 121 | None | 0.1297 | None | gnomAD-4.0.0 | 1.36846E-06 | |
27457 | 89 | E/D | 122 | None | 0.3324 | None | gnomAD-4.0.0 | 1.36846E-06 | |
27458 | 90 | S/F | 123 | rs1335006996 | 0.1840 | None | gnomAD-2.1.1 | 4.02E-06 | |
27458 | 90 | S/F | 123 | rs1335006996 | 0.1840 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27460 | 92 | P/S | 126 | rs1043329468 | 0.5589 | None | gnomAD-3.1.2 | 6.58E-06 | |
27460 | 92 | P/S | 126 | rs1043329468 | 0.5589 | None | gnomAD-4.0.0 | 3.09872E-06 | |
27460 | 92 | P/T | 126 | rs1043329468 | 0.5589 | None | gnomAD-3.1.2 | 6.58E-06 | |
27460 | 92 | P/T | 126 | rs1043329468 | 0.5589 | None | gnomAD-4.0.0 | 1.23949E-06 | |
27461 | 93 | V/D | 127 | None | 0.2482 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27461 | 93 | V/I | 127 | None | 0.2482 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27462 | 94 | T/K | 129 | None | 0.3655 | None | gnomAD-2.1.1 | 5.59899E-03 | |
27462 | 94 | T/K | 129 | None | 0.3655 | None | gnomAD-3.1.2 | 1.48864E-02 | |
27462 | 94 | T/K | 129 | None | 0.3655 | None | 1000 genomes | 1.55751E-02 | |
27462 | 94 | T/K | 129 | None | 0.3655 | None | gnomAD-4.0.0 | 3.24422E-03 | |
27462 | 94 | T/M | 129 | rs55933739 | 0.3655 | None | gnomAD-2.1.1 | 6.07E-05 | |
27462 | 94 | T/M | 129 | rs55933739 | 0.3655 | None | gnomAD-3.1.2 | 7.24E-05 | |
27462 | 94 | T/M | 129 | rs55933739 | 0.3655 | None | gnomAD-4.0.0 | 8.86194E-05 | |
27462 | 94 | T/R | 129 | rs55933739 | 0.3655 | None | gnomAD-2.1.1 | 4.02E-06 | |
27463 | 95 | A/D | 130 | None | 0.0664 | None | gnomAD-4.0.0 | 1.59137E-06 | |
27463 | 95 | A/P | 130 | rs1350757570 | 0.0664 | None | gnomAD-2.1.1 | 4.02E-06 | |
27463 | 95 | A/P | 130 | rs1350757570 | 0.0664 | None | gnomAD-4.0.0 | 1.59136E-06 | |
27464 | 96 | C/R | 131 | rs1704578437 | 0.2767 | None | gnomAD-3.1.2 | 6.57E-06 | |
27464 | 96 | C/R | 131 | rs1704578437 | 0.2767 | None | gnomAD-4.0.0 | 6.57497E-06 | |
27465 | 97 | N/H | 132 | None | 0.2173 | None | gnomAD-4.0.0 | 1.20032E-06 |