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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
28450 | 1 | K/N | 1 | rs373453778 | 0.2978 | None | gnomAD-2.1.1 | 8.05E-06 | |
28450 | 1 | K/N | 1 | rs373453778 | 0.2978 | None | gnomAD-3.1.2 | 6.57E-06 | |
28450 | 1 | K/N | 1 | rs373453778 | 0.2978 | None | gnomAD-4.0.0 | 3.42125E-06 | |
28451 | 2 | P/S | 2 | rs727503554 | 0.0974 | None | gnomAD-2.1.1 | 3.19E-05 | |
28451 | 2 | P/S | 2 | rs727503554 | 0.0974 | None | gnomAD-3.1.2 | 1.31E-05 | |
28451 | 2 | P/S | 2 | rs727503554 | 0.0974 | None | gnomAD-4.0.0 | 3.09865E-06 | |
28453 | 4 | P/S | 4 | None | 0.3948 | None | gnomAD-4.0.0 | 2.40064E-06 | |
28454 | 5 | P/L | 5 | rs747983822 | 0.1112 | None | gnomAD-3.1.2 | 1.31E-05 | |
28454 | 5 | P/L | 5 | rs747983822 | 0.1112 | None | gnomAD-4.0.0 | 1.31422E-05 | |
28454 | 5 | P/Q | 5 | rs747983822 | 0.1112 | None | gnomAD-3.1.2 | 6.57E-06 | |
28454 | 5 | P/Q | 5 | rs747983822 | 0.1112 | None | gnomAD-4.0.0 | 6.57108E-06 | |
28456 | 7 | G/E | 7 | None | 0.5659 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28457 | 8 | P/A | 8 | rs947719918 | 0.7168 | None | gnomAD-4.0.0 | 6.84245E-07 | |
28457 | 8 | P/S | 8 | None | 0.7168 | None | gnomAD-4.0.0 | 6.84245E-07 | |
28458 | 9 | L/P | 9 | rs776361284 | 0.1642 | None | gnomAD-2.1.1 | 7.15E-06 | |
28458 | 9 | L/P | 9 | rs776361284 | 0.1642 | None | gnomAD-3.1.2 | 1.31E-05 | |
28458 | 9 | L/P | 9 | rs776361284 | 0.1642 | None | gnomAD-4.0.0 | 3.09861E-06 | |
28460 | 11 | I/M | 12 | rs768545532 | 0.2684 | None | gnomAD-2.1.1 | 1.43E-05 | |
28460 | 11 | I/M | 12 | rs768545532 | 0.2684 | None | gnomAD-3.1.2 | 3.29E-05 | |
28460 | 11 | I/M | 12 | rs768545532 | 0.2684 | None | gnomAD-4.0.0 | 5.57732E-06 | |
28463 | 14 | L/F | 15 | None | 0.3172 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28463 | 14 | L/R | 15 | None | 0.3172 | None | gnomAD-4.0.0 | 1.59144E-06 | |
28464 | 15 | T/N | 16 | rs1234280926 | 0.2185 | None | gnomAD-3.1.2 | 6.57E-06 | |
28464 | 15 | T/N | 16 | rs1234280926 | 0.2185 | None | gnomAD-4.0.0 | 3.71824E-06 | |
28465 | 16 | A/S | 17 | rs780381193 | 0.1093 | None | gnomAD-2.1.1 | 4.03E-06 | |
28465 | 16 | A/S | 17 | rs780381193 | 0.1093 | None | gnomAD-3.1.2 | 6.57E-06 | |
28466 | 17 | E/D | 18 | rs758571306 | 0.7054 | None | gnomAD-2.1.1 | 4.03E-06 | |
28466 | 17 | E/K | 18 | rs878880701 | 0.7054 | None | gnomAD-2.1.1 | 4.03E-06 | |
28466 | 17 | E/K | 18 | rs878880701 | 0.7054 | None | gnomAD-4.0.0 | 3.42126E-06 | |
28468 | 19 | C/G | 20 | None | 0.1030 | None | gnomAD-4.0.0 | 1.3685E-06 | |
28468 | 19 | C/R | 20 | rs1553563147 | 0.1030 | None | gnomAD-4.0.0 | 2.737E-06 | |
28469 | 20 | S/C | 21 | rs202040332 | 0.3000 | None | gnomAD-2.1.1 | 2.15129E-03 | |
28469 | 20 | S/C | 21 | rs202040332 | 0.3000 | None | gnomAD-3.1.2 | 1.42602E-03 | |
28469 | 20 | S/C | 21 | rs202040332 | 0.3000 | None | 1000 genomes | 9.98403E-04 | |
28469 | 20 | S/C | 21 | rs202040332 | 0.3000 | None | gnomAD-4.0.0 | 8.76862E-04 | |
28469 | 20 | S/P | 21 | None | 0.3000 | None | gnomAD-4.0.0 | 1.3685E-06 | |
28470 | 21 | L/V | 22 | None | 0.1286 | None | gnomAD-4.0.0 | 1.36855E-06 | |
28471 | 22 | S/A | 23 | rs1185011450 | 0.2553 | None | gnomAD-2.1.1 | 4.03E-06 | |
28471 | 22 | S/A | 23 | rs1185011450 | 0.2553 | None | gnomAD-4.0.0 | 1.59153E-06 | |
28473 | 24 | G/E | 25 | rs911764199 | 0.2310 | None | gnomAD-2.1.1 | 4.03E-06 | |
28473 | 24 | G/E | 25 | rs911764199 | 0.2310 | None | gnomAD-3.1.2 | 6.57E-06 | |
28473 | 24 | G/E | 25 | rs911764199 | 0.2310 | None | gnomAD-4.0.0 | 6.57315E-06 | |
28473 | 24 | G/R | 25 | rs779477617 | 0.2310 | None | gnomAD-2.1.1 | 8.05E-06 | |
28473 | 24 | G/R | 25 | rs779477617 | 0.2310 | None | gnomAD-3.1.2 | 6.58E-06 | |
28473 | 24 | G/R | 25 | rs779477617 | 0.2310 | None | gnomAD-4.0.0 | 3.84431E-06 | |
28473 | 24 | G/V | 25 | None | 0.2310 | None | gnomAD-4.0.0 | 1.59166E-06 | |
28474 | 25 | R/C | 26 | rs757771061 | 0.7968 | None | gnomAD-2.1.1 | 2.86E-05 | |
28474 | 25 | R/C | 26 | rs757771061 | 0.7968 | None | gnomAD-3.1.2 | 1.97E-05 | |
28474 | 25 | R/C | 26 | rs757771061 | 0.7968 | None | gnomAD-4.0.0 | 1.42549E-05 | |
28474 | 25 | R/H | 26 | rs754356257 | 0.7968 | None | gnomAD-2.1.1 | 1.68043E-04 | |
28474 | 25 | R/H | 26 | rs754356257 | 0.7968 | None | gnomAD-3.1.2 | 3.29E-05 | |
28474 | 25 | R/H | 26 | rs754356257 | 0.7968 | None | gnomAD-4.0.0 | 8.98657E-05 | |
28475 | 26 | P/L | 27 | None | 0.1921 | None | gnomAD-4.0.0 | 2.73718E-06 | |
28478 | 29 | D/N | 30 | rs375744985 | 0.3443 | None | gnomAD-2.1.1 | 8.05E-06 | |
28478 | 29 | D/N | 30 | rs375744985 | 0.3443 | None | gnomAD-3.1.2 | 3.29E-05 | |
28478 | 29 | D/N | 30 | rs375744985 | 0.3443 | None | gnomAD-4.0.0 | 7.43695E-06 | |
28479 | 30 | G/S | 31 | rs1575615400 | 0.1020 | None | gnomAD-4.0.0 | 6.00161E-06 | |
28480 | 31 | G/D | 32 | rs1703319018 | 0.2661 | None | gnomAD-3.1.2 | 6.57E-06 | |
28480 | 31 | G/D | 32 | rs1703319018 | 0.2661 | None | gnomAD-4.0.0 | 2.56267E-06 | |
28480 | 31 | G/S | 32 | None | 0.2661 | None | gnomAD-4.0.0 | 6.8427E-07 | |
28482 | 33 | D/A | 34 | None | 0.9860 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28482 | 33 | D/H | 34 | rs762526051 | 0.9860 | None | gnomAD-2.1.1 | 4.03E-06 | |
28482 | 33 | D/N | 34 | rs762526051 | 0.9860 | None | gnomAD-2.1.1 | 4.03E-06 | |
28482 | 33 | D/N | 34 | rs762526051 | 0.9860 | None | gnomAD-4.0.0 | 1.59161E-06 | |
28483 | 34 | I/V | 35 | None | 0.2195 | None | gnomAD-4.0.0 | 1.59159E-06 | |
28484 | 35 | D/E | 36 | rs768596884 | 0.4525 | None | gnomAD-2.1.1 | 4.03E-06 | |
28484 | 35 | D/E | 36 | rs768596884 | 0.4525 | None | gnomAD-4.0.0 | 6.8429E-07 | |
28484 | 35 | D/N | 36 | None | 0.4525 | None | gnomAD-2.1.1 | 2.86E-05 | |
28484 | 35 | D/N | 36 | None | 0.4525 | None | gnomAD-3.1.2 | 6.58E-05 | |
28484 | 35 | D/N | 36 | None | 0.4525 | None | gnomAD-4.0.0 | 3.34689E-05 | |
28484 | 35 | D/Y | 36 | rs56330345 | 0.4525 | None | gnomAD-3.1.2 | 1.32E-05 | |
28484 | 35 | D/Y | 36 | rs56330345 | 0.4525 | None | gnomAD-4.0.0 | 1.42553E-05 | |
28485 | 36 | Y/C | 37 | rs746763202 | 0.2587 | None | gnomAD-2.1.1 | 8.06E-06 | |
28485 | 36 | Y/C | 37 | rs746763202 | 0.2587 | None | gnomAD-4.0.0 | 7.95821E-06 | |
28486 | 37 | Y/C | 38 | None | 0.1160 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28487 | 38 | I/V | 39 | rs375122794 | 0.2224 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28488 | 39 | V/I | 40 | rs377264123 | 0.1187 | None | gnomAD-2.1.1 | 6.8E-05 | |
28488 | 39 | V/I | 40 | rs377264123 | 0.1187 | None | gnomAD-3.1.2 | 6.57E-05 | |
28488 | 39 | V/I | 40 | rs377264123 | 0.1187 | None | gnomAD-4.0.0 | 3.40879E-05 | |
28490 | 41 | K/N | 42 | rs772128356 | 0.1782 | None | gnomAD-2.1.1 | 8.06E-06 | |
28490 | 41 | K/N | 42 | rs772128356 | 0.1782 | None | gnomAD-3.1.2 | 6.57E-06 | |
28490 | 41 | K/N | 42 | rs772128356 | 0.1782 | None | gnomAD-4.0.0 | 2.73717E-06 | |
28491 | 42 | R/C | 43 | rs746090724 | 0.1831 | None | gnomAD-2.1.1 | 5.37E-05 | |
28491 | 42 | R/C | 43 | rs746090724 | 0.1831 | None | gnomAD-3.1.2 | 1.97E-05 | |
28491 | 42 | R/C | 43 | rs746090724 | 0.1831 | None | gnomAD-4.0.0 | 2.16931E-05 | |
28491 | 42 | R/H | 43 | rs373129706 | 0.1831 | None | gnomAD-2.1.1 | 1.10946E-04 | |
28491 | 42 | R/H | 43 | rs373129706 | 0.1831 | None | gnomAD-3.1.2 | 7.23E-05 | |
28491 | 42 | R/H | 43 | rs373129706 | 0.1831 | None | gnomAD-4.0.0 | 5.82597E-05 | |
28492 | 43 | E/G | 44 | None | 0.1644 | None | gnomAD-4.0.0 | 2.05284E-06 | |
28492 | 43 | E/K | 44 | None | 0.1644 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28492 | 43 | E/Q | 44 | None | 0.1644 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28492 | 43 | E/V | 44 | rs771012463 | 0.1644 | None | gnomAD-2.1.1 | 4.03E-06 | |
28492 | 43 | E/V | 44 | rs771012463 | 0.1644 | None | gnomAD-4.0.0 | 1.36856E-06 | |
28493 | 44 | T/A | 50 | rs369907507 | 0.3810 | None | gnomAD-2.1.1 | 4.03E-06 | |
28493 | 44 | T/A | 50 | rs369907507 | 0.3810 | None | gnomAD-3.1.2 | 1.97E-05 | |
28493 | 44 | T/A | 50 | rs369907507 | 0.3810 | None | gnomAD-4.0.0 | 4.40021E-05 | |
28493 | 44 | T/K | 50 | rs1703288626 | 0.3810 | None | gnomAD-3.1.2 | 6.57E-06 | |
28493 | 44 | T/K | 50 | rs1703288626 | 0.3810 | None | gnomAD-4.0.0 | 3.84433E-06 | |
28494 | 45 | S/G | 54 | rs749807293 | 0.5252 | None | gnomAD-2.1.1 | 4.03E-06 | |
28494 | 45 | S/G | 54 | rs749807293 | 0.5252 | None | gnomAD-3.1.2 | 6.57E-06 | |
28494 | 45 | S/G | 54 | rs749807293 | 0.5252 | None | gnomAD-4.0.0 | 3.84381E-06 | |
28495 | 46 | H/L | 60 | rs554119186 | 0.6386 | None | gnomAD-2.1.1 | 8.07E-06 | |
28495 | 46 | H/L | 60 | rs554119186 | 0.6386 | None | gnomAD-3.1.2 | 5.26E-05 | |
28495 | 46 | H/L | 60 | rs554119186 | 0.6386 | None | 1000 genomes | 1.99681E-04 | |
28495 | 46 | H/L | 60 | rs554119186 | 0.6386 | None | gnomAD-4.0.0 | 1.40926E-05 | |
28497 | 48 | A/P | 64 | None | 0.5522 | None | gnomAD-4.0.0 | 6.84286E-07 | |
28497 | 48 | A/S | 64 | None | 0.5522 | None | gnomAD-4.0.0 | 6.84286E-07 | |
28498 | 49 | W/R | 65 | rs1488730809 | 0.2375 | None | gnomAD-2.1.1 | 4.03E-06 | |
28498 | 49 | W/R | 65 | rs1488730809 | 0.2375 | None | gnomAD-4.0.0 | 2.05285E-06 | |
28498 | 49 | W/S | 65 | rs756499458 | 0.2375 | None | gnomAD-2.1.1 | 4.03E-06 | |
28499 | 50 | T/K | 66 | rs1703270570 | 0.5048 | None | gnomAD-4.0.0 | 6.84306E-07 | |
28500 | 51 | I/V | 67 | rs752991005 | 0.5910 | None | gnomAD-2.1.1 | 4.03E-06 | |
28500 | 51 | I/V | 67 | rs752991005 | 0.5910 | None | gnomAD-3.1.2 | 6.57E-06 | |
28500 | 51 | I/V | 67 | rs752991005 | 0.5910 | None | gnomAD-4.0.0 | 6.57151E-06 | |
28501 | 52 | C/R | 68 | rs1559289598 | 0.2209 | None | gnomAD-2.1.1 | 4.03E-06 | |
28501 | 52 | C/R | 68 | rs1559289598 | 0.2209 | None | gnomAD-4.0.0 | 2.05291E-06 | |
28501 | 52 | C/S | 68 | rs1559289598 | 0.2209 | None | gnomAD-2.1.1 | 4.04E-06 | |
28501 | 52 | C/S | 68 | rs1559289598 | 0.2209 | None | gnomAD-4.0.0 | 1.59178E-06 | |
28502 | 53 | E/G | 69 | None | 0.4300 | None | gnomAD-4.0.0 | 3.18351E-06 | |
28503 | 54 | G/E | 70 | rs1222429807 | 0.2693 | None | gnomAD-2.1.1 | 4.04E-06 | |
28503 | 54 | G/E | 70 | rs1222429807 | 0.2693 | None | gnomAD-4.0.0 | 6.8432E-07 | |
28503 | 54 | G/R | 70 | rs779691555 | 0.2693 | None | gnomAD-2.1.1 | 4.04E-06 | |
28503 | 54 | G/R | 70 | rs779691555 | 0.2693 | None | gnomAD-4.0.0 | 1.59181E-06 | |
28504 | 55 | E/K | 75 | rs876657670 | 0.6368 | None | gnomAD-3.1.2 | 6.57E-06 | |
28504 | 55 | E/K | 75 | rs876657670 | 0.6368 | None | gnomAD-4.0.0 | 6.57229E-06 | |
28506 | 57 | Q/H | 83 | rs1387892169 | 0.8142 | None | gnomAD-2.1.1 | 4.04E-06 | |
28506 | 57 | Q/H | 83 | rs1387892169 | 0.8142 | None | gnomAD-4.0.0 | 6.84319E-07 | |
28506 | 57 | Q/K | 83 | rs201272728 | 0.8142 | None | gnomAD-2.1.1 | 4.47859E-04 | |
28506 | 57 | Q/K | 83 | rs201272728 | 0.8142 | None | gnomAD-3.1.2 | 4.6681E-04 | |
28506 | 57 | Q/K | 83 | rs201272728 | 0.8142 | None | 1000 genomes | 3.99361E-04 | |
28506 | 57 | Q/K | 83 | rs201272728 | 0.8142 | None | gnomAD-4.0.0 | 2.82616E-04 | |
28507 | 58 | M/I | 88 | None | 0.5720 | None | gnomAD-4.0.0 | 6.84347E-07 | |
28507 | 58 | M/V | 88 | rs750081245 | 0.5720 | None | gnomAD-2.1.1 | 1.07E-05 | |
28507 | 58 | M/V | 88 | rs750081245 | 0.5720 | None | gnomAD-3.1.2 | 6.57E-06 | |
28507 | 58 | M/V | 88 | rs750081245 | 0.5720 | None | gnomAD-4.0.0 | 5.12587E-06 | |
28509 | 60 | S/F | 90 | rs1575614269 | 0.3355 | None | gnomAD-4.0.0 | 1.59209E-06 | |
28509 | 60 | S/T | 90 | rs1329788185 | 0.3355 | None | gnomAD-2.1.1 | 4.04E-06 | |
28509 | 60 | S/T | 90 | rs1329788185 | 0.3355 | None | gnomAD-4.0.0 | 1.36869E-06 | |
28510 | 61 | C/Y | 91 | None | 0.1690 | None | gnomAD-4.0.0 | 1.20033E-06 | |
28511 | 62 | K/N | 92 | None | 0.6346 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28512 | 63 | V/A | 93 | rs1018186238 | 0.1652 | None | gnomAD-3.1.2 | 6.57E-06 | |
28512 | 63 | V/A | 93 | rs1018186238 | 0.1652 | None | gnomAD-4.0.0 | 6.57108E-06 | |
28512 | 63 | V/I | 93 | rs764706572 | 0.1652 | None | gnomAD-2.1.1 | 4.04E-06 | |
28512 | 63 | V/I | 93 | rs764706572 | 0.1652 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28513 | 64 | T/I | 94 | None | 0.4310 | None | gnomAD-4.0.0 | 1.36876E-06 | |
28513 | 64 | T/P | 94 | None | 0.4310 | None | gnomAD-4.0.0 | 3.60098E-06 | |
28514 | 65 | K/N | 96 | None | 0.8651 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28514 | 65 | K/Q | 96 | rs1401382571 | 0.8651 | None | gnomAD-2.1.1 | 4.04E-06 | |
28514 | 65 | K/Q | 96 | rs1401382571 | 0.8651 | None | gnomAD-3.1.2 | 6.57E-06 | |
28514 | 65 | K/Q | 96 | rs1401382571 | 0.8651 | None | gnomAD-4.0.0 | 6.57134E-06 | |
28516 | 67 | L/F | 98 | rs13026702 | 0.5823 | None | gnomAD-3.1.2 | 6.58E-06 | |
28516 | 67 | L/F | 98 | rs13026702 | 0.5823 | None | gnomAD-4.0.0 | 6.57549E-06 | |
28518 | 69 | G/D | 100 | rs1464682626 | 0.3076 | None | gnomAD-2.1.1 | 3.19E-05 | |
28518 | 69 | G/D | 100 | rs1464682626 | 0.3076 | None | gnomAD-4.0.0 | 2.73779E-06 | |
28519 | 70 | N/K | 102 | rs1379450228 | 0.3166 | None | gnomAD-2.1.1 | 4.05E-06 | |
28519 | 70 | N/K | 102 | rs1379450228 | 0.3166 | None | gnomAD-4.0.0 | 1.59255E-06 | |
28521 | 72 | Y/C | 104 | rs1559288658 | 0.0867 | None | gnomAD-4.0.0 | 2.73773E-06 | |
28522 | 73 | I/T | 105 | rs372146722 | 0.1994 | None | gnomAD-2.1.1 | 8.09E-06 | |
28522 | 73 | I/T | 105 | rs372146722 | 0.1994 | None | gnomAD-3.1.2 | 1.31E-05 | |
28522 | 73 | I/T | 105 | rs372146722 | 0.1994 | None | gnomAD-4.0.0 | 1.36375E-05 | |
28523 | 74 | F/L | 106 | rs761341032 | 0.1244 | None | gnomAD-2.1.1 | 4.05E-06 | |
28523 | 74 | F/L | 106 | rs761341032 | 0.1244 | None | gnomAD-4.0.0 | 1.59251E-06 | |
28524 | 75 | R/I | 107 | None | 0.1582 | None | gnomAD-4.0.0 | 2.0534E-06 | |
28525 | 76 | V/I | 108 | None | 0.0751 | None | gnomAD-4.0.0 | 1.59253E-06 | |
28527 | 78 | G/A | 110 | None | 0.1184 | None | gnomAD-4.0.0 | 6.84438E-07 | |
28527 | 78 | G/D | 110 | rs886038882 | 0.1184 | None | gnomAD-3.1.2 | 1.31E-05 | |
28527 | 78 | G/D | 110 | rs886038882 | 0.1184 | None | gnomAD-4.0.0 | 3.09951E-06 | |
28527 | 78 | G/S | 110 | rs1703237348 | 0.1184 | None | gnomAD-3.1.2 | 6.57E-06 | |
28527 | 78 | G/S | 110 | rs1703237348 | 0.1184 | None | gnomAD-4.0.0 | 6.57341E-06 | |
28528 | 79 | V/I | 111 | rs753861250 | 0.0944 | None | gnomAD-2.1.1 | 8.09E-06 | |
28528 | 79 | V/I | 111 | rs753861250 | 0.0944 | None | gnomAD-3.1.2 | 1.31E-05 | |
28528 | 79 | V/I | 111 | rs753861250 | 0.0944 | None | gnomAD-4.0.0 | 5.12769E-06 | |
28530 | 81 | K/E | 113 | None | 0.4365 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28531 | 82 | Y/C | 114 | None | 0.3730 | None | gnomAD-4.0.0 | 6.84418E-07 | |
28531 | 82 | Y/F | 114 | rs1238497869 | 0.3730 | None | gnomAD-2.1.1 | 8.08E-06 | |
28531 | 82 | Y/F | 114 | rs1238497869 | 0.3730 | None | gnomAD-4.0.0 | 4.17495E-05 | |
28533 | 84 | V/I | 117 | None | 0.4982 | None | gnomAD-4.0.0 | 1.59252E-06 | |
28534 | 85 | G/S | 118 | None | 0.1441 | None | gnomAD-4.0.0 | 2.73782E-06 | |
28535 | 86 | E/D | 119 | None | 0.4193 | None | gnomAD-4.0.0 | 6.84478E-07 | |
28535 | 86 | E/K | 119 | rs538803059 | 0.4193 | None | gnomAD-2.1.1 | 8.08E-06 | |
28535 | 86 | E/K | 119 | rs538803059 | 0.4193 | None | gnomAD-3.1.2 | 6.57E-06 | |
28535 | 86 | E/K | 119 | rs538803059 | 0.4193 | None | gnomAD-4.0.0 | 2.56405E-06 | |
28535 | 86 | E/Q | 119 | None | 0.4193 | None | gnomAD-4.0.0 | 1.59256E-06 | |
28536 | 87 | P/T | 120 | rs1703229481 | 0.3848 | None | gnomAD-3.1.2 | 1.32E-05 | |
28536 | 87 | P/T | 120 | rs1703229481 | 0.3848 | None | gnomAD-4.0.0 | 3.84685E-06 | |
28537 | 88 | L/P | 121 | None | 0.1542 | None | gnomAD-4.0.0 | 1.59253E-06 | |
28538 | 89 | E/K | 122 | None | 0.3892 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28541 | 92 | A/P | 126 | rs1342382839 | 0.3329 | None | gnomAD-2.1.1 | 4.04E-06 | |
28541 | 92 | A/P | 126 | rs1342382839 | 0.3329 | None | gnomAD-4.0.0 | 1.59348E-06 | |
28542 | 93 | I/L | 127 | rs554841820 | 0.1881 | None | gnomAD-2.1.1 | 8.08E-06 | |
28542 | 93 | I/L | 127 | rs554841820 | 0.1881 | None | gnomAD-4.0.0 | 2.73811E-06 | |
28542 | 93 | I/V | 127 | rs554841820 | 0.1881 | None | gnomAD-2.1.1 | 1.21E-05 | |
28542 | 93 | I/V | 127 | rs554841820 | 0.1881 | None | gnomAD-3.1.2 | 3.29E-05 | |
28542 | 93 | I/V | 127 | rs554841820 | 0.1881 | None | 1000 genomes | 3.99361E-04 | |
28542 | 93 | I/V | 127 | rs554841820 | 0.1881 | None | gnomAD-4.0.0 | 1.11587E-05 | |
28543 | 94 | K/E | 129 | None | 0.5012 | None | gnomAD-4.0.0 | 1.36907E-06 | |
28544 | 95 | A/V | 130 | rs775485220 | 0.0734 | None | gnomAD-2.1.1 | 1.08E-05 | |
28544 | 95 | A/V | 130 | rs775485220 | 0.0734 | None | gnomAD-3.1.2 | 1.32E-05 | |
28544 | 95 | A/V | 130 | rs775485220 | 0.0734 | None | gnomAD-4.0.0 | 3.848E-06 | |
28545 | 96 | L/V | 131 | None | 0.4548 | None | gnomAD-4.0.0 | 6.84519E-07 | |
28546 | 97 | D/N | 132 | rs771897496 | 0.5488 | None | gnomAD-2.1.1 | 4.04E-06 | |
28546 | 97 | D/N | 132 | rs771897496 | 0.5488 | None | gnomAD-3.1.2 | 6.58E-06 | |
28546 | 97 | D/N | 132 | rs771897496 | 0.5488 | None | gnomAD-4.0.0 | 3.84715E-06 | |
28546 | 97 | D/V | 132 | None | 0.5488 | None | gnomAD-4.0.0 | 1.59289E-06 |