10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
K | P | G | P | P | N | N | P | K | V | I | D | I | T | R | S | S | V | F | L | S | W | S | K | P | I | Y | D | G | G | C | E | I | Q | G | Y | I | V | E | K | C | D | V | S | V | G | E | W | T | M | C | T | P | P | T | G | I | N | K | T | N | I | E | V | E | K | L | L | E | K | H | E | Y | N | F | R | I | C | A | I | N | K | A | G | V | G | E | H | A | D | V | P | G | P | I | I | V | E | E | K | L | E | A | P | D | I | D | L | D | L | E | L | R | K | I | I | N | I | R | A | G | G | S | L | R | L | F | V | P | I | K | G | R | P | T | P | E | V | K | W | G | K | V | D | G | E | I | R | D | A | A | I | I | D | V | T | S | S | F | T | S | L | V | L | D | N | V | N | R | Y | D | S | G | K | Y | T | L | T | L | E | N | S | S | G | T | K | S | A | F | V | T | V | R | V | L |
- | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | L | E | L | R | K | I | I | N | I | R | A | G | G | S | L | R | L | F | V | P | I | K | G | R | P | T | P | E | V | K | W | G | K | V | D | G | E | I | R | D | A | A | I | I | D | V | T | S | S | F | T | S | L | V | L | D | N | V | N | R | Y | D | S | G | K | Y | T | L | T | L | E | N | S | S | G | T | K | S | A | F | V | T | V | R | V | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
25514 | 1 | L/P | 1 | rs1553601755 | 0.8682 | None | gnomAD-3.1.2 | 6.58E-06 | |
25514 | 1 | L/P | 1 | rs1553601755 | 0.8682 | None | gnomAD-4.0.0 | 6.57687E-06 | |
25514 | 1 | L/V | 1 | None | 0.8682 | None | gnomAD-4.0.0 | 1.59377E-06 | |
25515 | 2 | E/K | 2 | rs755797898 | 0.4221 | None | gnomAD-2.1.1 | 8.12E-06 | |
25516 | 3 | L/I | 3 | rs752300467 | 0.2221 | None | gnomAD-2.1.1 | 1.22E-05 | |
25516 | 3 | L/I | 3 | rs752300467 | 0.2221 | None | gnomAD-3.1.2 | 6.58E-06 | |
25516 | 3 | L/I | 3 | rs752300467 | 0.2221 | None | gnomAD-4.0.0 | 6.20099E-06 | |
25517 | 4 | R/G | 8 | rs780584058 | 0.5378 | None | gnomAD-4.0.0 | 2.05375E-06 | |
25518 | 5 | K/R | 9 | None | 0.4189 | None | gnomAD-4.0.0 | 1.20033E-06 | |
25519 | 6 | I/N | 11 | rs376185524 | 0.5579 | None | gnomAD-4.0.0 | 2.05366E-06 | |
25519 | 6 | I/T | 11 | rs376185524 | 0.5579 | None | gnomAD-2.1.1 | 4.86E-05 | |
25519 | 6 | I/T | 11 | rs376185524 | 0.5579 | None | gnomAD-3.1.2 | 1.97E-05 | |
25519 | 6 | I/T | 11 | rs376185524 | 0.5579 | None | 1000 genomes | 1.99681E-04 | |
25519 | 6 | I/T | 11 | rs376185524 | 0.5579 | None | gnomAD-4.0.0 | 2.41808E-05 | |
25520 | 7 | I/T | 13 | rs1553601714 | 0.2316 | None | gnomAD-4.0.0 | 1.36904E-06 | |
25522 | 9 | I/T | 16 | rs372963832 | 0.1711 | None | gnomAD-2.1.1 | 4.04E-06 | |
25522 | 9 | I/T | 16 | rs372963832 | 0.1711 | None | gnomAD-3.1.2 | 1.32E-05 | |
25522 | 9 | I/T | 16 | rs372963832 | 0.1711 | None | gnomAD-4.0.0 | 1.67399E-05 | |
25522 | 9 | I/V | 16 | rs1403999176 | 0.1711 | None | gnomAD-3.1.2 | 1.97E-05 | |
25522 | 9 | I/V | 16 | rs1403999176 | 0.1711 | None | gnomAD-4.0.0 | 5.12934E-06 | |
25523 | 10 | R/S | 18 | None | 0.6395 | None | gnomAD-4.0.0 | 6.84503E-07 | |
25524 | 11 | A/T | 23 | rs766397845 | 0.3767 | None | gnomAD-2.1.1 | 4.04E-06 | |
25525 | 12 | G/D | 24 | rs1428374737 | 0.3777 | None | gnomAD-2.1.1 | 4.04E-06 | |
25525 | 12 | G/D | 24 | rs1428374737 | 0.3777 | None | gnomAD-4.0.0 | 1.5928E-06 | |
25525 | 12 | G/S | 24 | None | 0.3777 | None | gnomAD-4.0.0 | 1.59282E-06 | |
25525 | 12 | G/V | 24 | rs1428374737 | 0.3777 | None | gnomAD-3.1.2 | 6.58E-06 | |
25525 | 12 | G/V | 24 | rs1428374737 | 0.3777 | None | gnomAD-4.0.0 | 6.57869E-06 | |
25526 | 13 | G/A | 25 | None | 0.2265 | None | gnomAD-4.0.0 | 6.8455E-07 | |
25526 | 13 | G/D | 25 | rs369344156 | 0.2265 | None | gnomAD-2.1.1 | 3.19E-05 | |
25526 | 13 | G/D | 25 | rs369344156 | 0.2265 | None | gnomAD-3.1.2 | 1.32E-05 | |
25526 | 13 | G/D | 25 | rs369344156 | 0.2265 | None | gnomAD-4.0.0 | 1.92212E-05 | |
25526 | 13 | G/S | 25 | rs1246585720 | 0.2265 | None | gnomAD-2.1.1 | 4.04E-06 | |
25526 | 13 | G/S | 25 | rs1246585720 | 0.2265 | None | gnomAD-4.0.0 | 1.59277E-06 | |
25526 | 13 | G/V | 25 | None | 0.2265 | None | gnomAD-4.0.0 | 6.8455E-07 | |
25529 | 16 | R/K | 29 | rs750282861 | 0.6870 | None | gnomAD-2.1.1 | 2.42E-05 | |
25529 | 16 | R/K | 29 | rs750282861 | 0.6870 | None | gnomAD-4.0.0 | 4.10715E-06 | |
25530 | 17 | L/F | 30 | rs184034300 | 0.1494 | None | gnomAD-2.1.1 | 1.79143E-04 | |
25530 | 17 | L/F | 30 | rs184034300 | 0.1494 | None | gnomAD-3.1.2 | 1.38167E-04 | |
25530 | 17 | L/F | 30 | rs184034300 | 0.1494 | None | 1000 genomes | 1.99681E-04 | |
25530 | 17 | L/F | 30 | rs184034300 | 0.1494 | None | gnomAD-4.0.0 | 6.84613E-07 | |
25530 | 17 | L/S | 30 | rs1465564864 | 0.1494 | None | gnomAD-2.1.1 | 4.04E-06 | |
25530 | 17 | L/S | 30 | rs1465564864 | 0.1494 | None | gnomAD-3.1.2 | 6.58E-06 | |
25530 | 17 | L/S | 30 | rs1465564864 | 0.1494 | None | gnomAD-4.0.0 | 1.86024E-06 | |
25531 | 18 | F/I | 31 | rs878933531 | 0.3781 | None | gnomAD-4.0.0 | 3.60097E-06 | |
25531 | 18 | F/S | 31 | rs976954474 | 0.3781 | None | gnomAD-2.1.1 | 7.16E-06 | |
25531 | 18 | F/S | 31 | rs976954474 | 0.3781 | None | gnomAD-3.1.2 | 1.32E-05 | |
25531 | 18 | F/S | 31 | rs976954474 | 0.3781 | None | gnomAD-4.0.0 | 3.10039E-06 | |
25532 | 19 | V/A | 33 | rs55984930 | 0.1097 | None | gnomAD-2.1.1 | 2.83E-05 | |
25532 | 19 | V/A | 33 | rs55984930 | 0.1097 | None | gnomAD-4.0.0 | 7.5315E-06 | |
25532 | 19 | V/F | 33 | rs1358589426 | 0.1097 | None | gnomAD-2.1.1 | 4.04E-06 | |
25532 | 19 | V/F | 33 | rs1358589426 | 0.1097 | None | gnomAD-4.0.0 | 2.73847E-06 | |
25532 | 19 | V/L | 33 | None | 0.1097 | None | gnomAD-4.0.0 | 6.84618E-07 | |
25533 | 20 | P/S | 34 | rs1707347772 | 0.2542 | None | gnomAD-4.0.0 | 3.60097E-06 | |
25534 | 21 | I/L | 35 | rs1245433477 | 0.1085 | None | gnomAD-2.1.1 | 4.04E-06 | |
25534 | 21 | I/L | 35 | rs1245433477 | 0.1085 | None | gnomAD-4.0.0 | 6.84689E-07 | |
25534 | 21 | I/V | 35 | rs1245433477 | 0.1085 | None | gnomAD-2.1.1 | 4.04E-06 | |
25534 | 21 | I/V | 35 | rs1245433477 | 0.1085 | None | gnomAD-4.0.0 | 6.84689E-07 | |
25536 | 23 | G/C | 40 | rs764082866 | 0.1581 | None | gnomAD-2.1.1 | 4.04E-06 | |
25536 | 23 | G/C | 40 | rs764082866 | 0.1581 | None | gnomAD-4.0.0 | 1.59382E-06 | |
25536 | 23 | G/D | 40 | rs1021201663 | 0.1581 | None | gnomAD-3.1.2 | 6.58E-06 | |
25536 | 23 | G/D | 40 | rs1021201663 | 0.1581 | None | gnomAD-4.0.0 | 6.57895E-06 | |
25536 | 23 | G/V | 40 | rs1021201663 | 0.1581 | None | gnomAD-4.0.0 | 1.59386E-06 | |
25537 | 24 | R/C | 41 | rs527631472 | 0.5928 | None | gnomAD-2.1.1 | 8.07E-06 | |
25537 | 24 | R/C | 41 | rs527631472 | 0.5928 | None | gnomAD-3.1.2 | 1.32E-05 | |
25537 | 24 | R/C | 41 | rs527631472 | 0.5928 | None | 1000 genomes | 1.99681E-04 | |
25537 | 24 | R/C | 41 | rs527631472 | 0.5928 | None | gnomAD-4.0.0 | 3.10092E-06 | |
25537 | 24 | R/G | 41 | rs527631472 | 0.5928 | None | gnomAD-2.1.1 | 4.04E-06 | |
25537 | 24 | R/G | 41 | rs527631472 | 0.5928 | None | gnomAD-4.0.0 | 2.05425E-06 | |
25537 | 24 | R/H | 41 | rs561977468 | 0.5928 | None | gnomAD-2.1.1 | 1.397E-04 | |
25537 | 24 | R/H | 41 | rs561977468 | 0.5928 | None | gnomAD-3.1.2 | 8.55E-05 | |
25537 | 24 | R/H | 41 | rs561977468 | 0.5928 | None | 1000 genomes | 1.99681E-04 | |
25537 | 24 | R/H | 41 | rs561977468 | 0.5928 | None | gnomAD-4.0.0 | 4.65074E-05 | |
25539 | 26 | T/I | 43 | rs746337217 | 0.5119 | None | gnomAD-2.1.1 | 8.07E-06 | |
25539 | 26 | T/I | 43 | rs746337217 | 0.5119 | None | gnomAD-4.0.0 | 2.73857E-06 | |
25540 | 27 | P/L | 44 | rs541464855 | 0.1593 | None | gnomAD-2.1.1 | 4.03E-06 | |
25540 | 27 | P/L | 44 | rs541464855 | 0.1593 | None | gnomAD-4.0.0 | 6.84695E-07 | |
25540 | 27 | P/Q | 44 | rs541464855 | 0.1593 | None | gnomAD-2.1.1 | 3.19E-05 | |
25540 | 27 | P/Q | 44 | rs541464855 | 0.1593 | None | gnomAD-3.1.2 | 1.97E-05 | |
25540 | 27 | P/Q | 44 | rs541464855 | 0.1593 | None | 1000 genomes | 1.99681E-04 | |
25540 | 27 | P/Q | 44 | rs541464855 | 0.1593 | None | gnomAD-4.0.0 | 4.96085E-06 | |
25541 | 28 | E/G | 45 | None | 0.8108 | None | gnomAD-4.0.0 | 1.59406E-06 | |
25542 | 29 | V/F | 46 | rs771230325 | 0.2952 | None | gnomAD-3.1.2 | 6.58E-06 | |
25542 | 29 | V/F | 46 | rs771230325 | 0.2952 | None | gnomAD-4.0.0 | 1.2403E-06 | |
25542 | 29 | V/I | 46 | None | 0.2952 | None | gnomAD-2.1.1 | 8.07E-06 | |
25542 | 29 | V/I | 46 | None | 0.2952 | None | gnomAD-4.0.0 | 4.10833E-06 | |
25543 | 30 | K/E | 47 | rs372016541 | 0.7738 | None | gnomAD-2.1.1 | 1.43E-05 | |
25543 | 30 | K/E | 47 | rs372016541 | 0.7738 | None | gnomAD-3.1.2 | 1.97E-05 | |
25543 | 30 | K/E | 47 | rs372016541 | 0.7738 | None | gnomAD-4.0.0 | 4.34098E-06 | |
25543 | 30 | K/R | 47 | None | 0.7738 | None | gnomAD-4.0.0 | 1.20033E-06 | |
25545 | 32 | G/R | 49 | rs575965326 | 0.2338 | None | gnomAD-2.1.1 | 4.03E-06 | |
25545 | 32 | G/R | 49 | rs575965326 | 0.2338 | None | gnomAD-3.1.2 | 6.58E-06 | |
25545 | 32 | G/R | 49 | rs575965326 | 0.2338 | None | 1000 genomes | 1.99681E-04 | |
25545 | 32 | G/R | 49 | rs575965326 | 0.2338 | None | gnomAD-4.0.0 | 2.48044E-06 | |
25546 | 33 | K/N | 50 | None | 0.1500 | None | gnomAD-4.0.0 | 6.84682E-07 | |
25546 | 33 | K/R | 50 | None | 0.1500 | None | gnomAD-4.0.0 | 1.20032E-06 | |
25547 | 34 | V/M | 51 | rs1429730962 | 0.4360 | None | gnomAD-2.1.1 | 8.06E-06 | |
25547 | 34 | V/M | 51 | rs1429730962 | 0.4360 | None | gnomAD-4.0.0 | 6.84674E-06 | |
25548 | 35 | D/V | 52 | None | 1.1193 | None | gnomAD-4.0.0 | 1.59375E-06 | |
25549 | 36 | G/S | 55 | rs181166140 | 0.4053 | None | gnomAD-2.1.1 | 3.29308E-04 | |
25549 | 36 | G/S | 55 | rs181166140 | 0.4053 | None | gnomAD-3.1.2 | 1.13751E-03 | |
25549 | 36 | G/S | 55 | rs181166140 | 0.4053 | None | 1000 genomes | 7.98722E-04 | |
25549 | 36 | G/S | 55 | rs181166140 | 0.4053 | None | gnomAD-4.0.0 | 1.79821E-04 | |
25551 | 38 | I/M | 58 | None | 0.2630 | None | gnomAD-4.0.0 | 1.59383E-06 | |
25552 | 39 | R/G | 69 | rs545954490 | 0.4186 | None | gnomAD-2.1.1 | 3.19E-05 | |
25552 | 39 | R/Q | 69 | rs779399871 | 0.4186 | None | gnomAD-2.1.1 | 1.21E-05 | |
25552 | 39 | R/Q | 69 | rs779399871 | 0.4186 | None | gnomAD-4.0.0 | 1.23246E-05 | |
25553 | 40 | D/E | 70 | rs1453473992 | 1.1319 | None | gnomAD-2.1.1 | 4.03E-06 | |
25553 | 40 | D/G | 70 | rs1197063716 | 1.1319 | None | gnomAD-2.1.1 | 4.03E-06 | |
25553 | 40 | D/G | 70 | rs1197063716 | 1.1319 | None | gnomAD-4.0.0 | 3.18749E-06 | |
25553 | 40 | D/N | 70 | rs1246439715 | 1.1319 | None | gnomAD-2.1.1 | 4.03E-06 | |
25553 | 40 | D/N | 70 | rs1246439715 | 1.1319 | None | gnomAD-4.0.0 | 1.59378E-06 | |
25554 | 41 | A/G | 73 | rs879087699 | 0.4760 | None | gnomAD-2.1.1 | 7.16E-06 | |
25554 | 41 | A/G | 73 | rs879087699 | 0.4760 | None | gnomAD-3.1.2 | 3.29E-05 | |
25554 | 41 | A/G | 73 | rs879087699 | 0.4760 | None | gnomAD-4.0.0 | 4.34072E-06 | |
25555 | 42 | A/V | 102 | rs1035031578 | 0.2023 | None | gnomAD-2.1.1 | 3.19E-05 | |
25555 | 42 | A/V | 102 | rs1035031578 | 0.2023 | None | gnomAD-3.1.2 | 1.32E-05 | |
25555 | 42 | A/V | 102 | rs1035031578 | 0.2023 | None | gnomAD-4.0.0 | 6.2008E-06 | |
25556 | 43 | I/V | 122 | rs1707317089 | 0.6869 | None | gnomAD-4.0.0 | 6.846E-06 | |
25557 | 44 | I/T | 123 | rs758441370 | 0.3225 | None | gnomAD-2.1.1 | 8.07E-06 | |
25557 | 44 | I/T | 123 | rs758441370 | 0.3225 | None | gnomAD-4.0.0 | 3.42287E-06 | |
25558 | 45 | D/V | 125 | rs201095164 | 0.6337 | None | gnomAD-2.1.1 | 1.93332E-04 | |
25558 | 45 | D/V | 125 | rs201095164 | 0.6337 | None | gnomAD-3.1.2 | 1.05201E-04 | |
25558 | 45 | D/V | 125 | rs201095164 | 0.6337 | None | gnomAD-4.0.0 | 9.11376E-05 | |
25558 | 45 | D/Y | 125 | rs750336110 | 0.6337 | None | gnomAD-2.1.1 | 1.21E-05 | |
25558 | 45 | D/Y | 125 | rs750336110 | 0.6337 | None | gnomAD-4.0.0 | 5.47669E-06 | |
25562 | 49 | S/G | 134 | rs1400963847 | 0.3735 | None | gnomAD-2.1.1 | 3.19E-05 | |
25562 | 49 | S/G | 134 | rs1400963847 | 0.3735 | None | gnomAD-3.1.2 | 6.57E-06 | |
25562 | 49 | S/G | 134 | rs1400963847 | 0.3735 | None | gnomAD-4.0.0 | 6.57454E-06 | |
25563 | 50 | F/Y | 135 | rs1273963065 | 0.2162 | None | gnomAD-2.1.1 | 4.03E-06 | |
25563 | 50 | F/Y | 135 | rs1273963065 | 0.2162 | None | gnomAD-4.0.0 | 4.77775E-06 | |
25565 | 52 | S/P | 137 | rs753679035 | 0.1645 | None | gnomAD-2.1.1 | 8.07E-06 | |
25565 | 52 | S/P | 137 | rs753679035 | 0.1645 | None | gnomAD-4.0.0 | 8.21342E-06 | |
25566 | 53 | L/P | 138 | rs1323717498 | 0.1015 | None | gnomAD-2.1.1 | 4.03E-06 | |
25566 | 53 | L/P | 138 | rs1323717498 | 0.1015 | None | gnomAD-4.0.0 | 1.36888E-06 | |
25566 | 53 | L/V | 138 | rs1332447067 | 0.1015 | None | gnomAD-2.1.1 | 4.03E-06 | |
25566 | 53 | L/V | 138 | rs1332447067 | 0.1015 | None | gnomAD-4.0.0 | 1.36889E-06 | |
25567 | 54 | V/F | 139 | rs3813244 | 0.2566 | None | gnomAD-2.1.1 | 2.07653E-04 | |
25567 | 54 | V/F | 139 | rs3813244 | 0.2566 | None | gnomAD-3.1.2 | 1.18356E-04 | |
25567 | 54 | V/F | 139 | rs3813244 | 0.2566 | None | 1000 genomes | 5.99042E-04 | |
25567 | 54 | V/F | 139 | rs3813244 | 0.2566 | None | gnomAD-4.0.0 | 1.45048E-04 | |
25567 | 54 | V/I | 139 | None | 0.2566 | None | gnomAD-4.0.0 | 6.84436E-07 | |
25568 | 55 | L/P | 140 | None | 0.1533 | None | gnomAD-4.0.0 | 1.36885E-06 | |
25569 | 56 | D/E | 141 | rs1002726225 | 0.6338 | None | gnomAD-4.0.0 | 2.73767E-06 | |
25569 | 56 | D/H | 141 | None | 0.6338 | None | gnomAD-4.0.0 | 1.5924E-06 | |
25570 | 57 | N/K | 143 | None | 0.7556 | None | gnomAD-4.0.0 | 1.59235E-06 | |
25570 | 57 | N/S | 143 | None | 0.7556 | None | gnomAD-4.0.0 | 1.59235E-06 | |
25571 | 58 | V/I | 144 | rs760782774 | 0.1015 | None | gnomAD-2.1.1 | 4.03E-06 | |
25573 | 60 | R/L | 146 | rs760052770 | 0.6246 | None | gnomAD-3.1.2 | 6.58E-06 | |
25573 | 60 | R/L | 146 | rs760052770 | 0.6246 | None | gnomAD-4.0.0 | 6.57609E-06 | |
25573 | 60 | R/Q | 146 | rs760052770 | 0.6246 | None | gnomAD-2.1.1 | 1.21E-05 | |
25573 | 60 | R/Q | 146 | rs760052770 | 0.6246 | None | gnomAD-3.1.2 | 3.29E-05 | |
25573 | 60 | R/Q | 146 | rs760052770 | 0.6246 | None | gnomAD-4.0.0 | 1.85967E-05 | |
25574 | 61 | Y/F | 148 | rs1199417769 | 0.7216 | None | gnomAD-3.1.2 | 6.58E-06 | |
25574 | 61 | Y/F | 148 | rs1199417769 | 0.7216 | None | gnomAD-4.0.0 | 6.57549E-06 | |
25574 | 61 | Y/H | 148 | rs3813245 | 0.7216 | None | gnomAD-2.1.1 | 2.57529E-02 | |
25574 | 61 | Y/H | 148 | rs3813245 | 0.7216 | None | gnomAD-3.1.2 | 2.02286E-02 | |
25574 | 61 | Y/H | 148 | rs3813245 | 0.7216 | None | 1000 genomes | 2.23642E-02 | |
25574 | 61 | Y/H | 148 | rs3813245 | 0.7216 | None | gnomAD-4.0.0 | 2.29074E-02 | |
25575 | 62 | D/N | 149 | rs749711979 | 0.1552 | None | gnomAD-2.1.1 | 1.07E-05 | |
25575 | 62 | D/N | 149 | rs749711979 | 0.1552 | None | gnomAD-3.1.2 | 1.97E-05 | |
25575 | 62 | D/N | 149 | rs749711979 | 0.1552 | None | gnomAD-4.0.0 | 4.33919E-06 | |
25576 | 63 | S/N | 151 | rs1184700085 | 0.2440 | None | gnomAD-3.1.2 | 6.58E-06 | |
25576 | 63 | S/N | 151 | rs1184700085 | 0.2440 | None | gnomAD-4.0.0 | 6.57678E-06 | |
25576 | 63 | S/R | 151 | None | 0.2440 | None | gnomAD-4.0.0 | 1.59225E-06 | |
25576 | 63 | S/T | 151 | None | 0.2440 | None | gnomAD-4.0.0 | 1.32035E-05 | |
25577 | 64 | G/R | 152 | rs1482128356 | 0.2398 | None | gnomAD-2.1.1 | 4.03E-06 | |
25579 | 66 | Y/C | 154 | rs1707280961 | 0.1502 | None | gnomAD-3.1.2 | 6.58E-06 | |
25579 | 66 | Y/C | 154 | rs1707280961 | 0.1502 | None | gnomAD-4.0.0 | 5.07512E-06 | |
25579 | 66 | Y/H | 154 | rs1254023475 | 0.1502 | None | gnomAD-2.1.1 | 4.03E-06 | |
25579 | 66 | Y/H | 154 | rs1254023475 | 0.1502 | None | gnomAD-4.0.0 | 1.36877E-06 | |
25580 | 67 | T/A | 155 | rs371711135 | 0.2750 | None | gnomAD-2.1.1 | 2.15E-05 | |
25580 | 67 | T/A | 155 | rs371711135 | 0.2750 | None | gnomAD-3.1.2 | 9.86E-05 | |
25580 | 67 | T/A | 155 | rs371711135 | 0.2750 | None | gnomAD-4.0.0 | 1.6736E-05 | |
25580 | 67 | T/K | 155 | rs56372592 | 0.2750 | None | gnomAD-2.1.1 | 2.11159E-04 | |
25580 | 67 | T/K | 155 | rs56372592 | 0.2750 | None | gnomAD-3.1.2 | 2.36774E-04 | |
25580 | 67 | T/K | 155 | rs56372592 | 0.2750 | None | gnomAD-4.0.0 | 6.51499E-04 | |
25580 | 67 | T/M | 155 | rs56372592 | 0.2750 | None | gnomAD-2.1.1 | 1.61769E-03 | |
25580 | 67 | T/M | 155 | rs56372592 | 0.2750 | None | gnomAD-3.1.2 | 9.3394E-04 | |
25580 | 67 | T/M | 155 | rs56372592 | 0.2750 | None | 1000 genomes | 4.59265E-03 | |
25580 | 67 | T/M | 155 | rs56372592 | 0.2750 | None | gnomAD-4.0.0 | 5.79551E-04 | |
25580 | 67 | T/R | 155 | None | 0.2750 | None | gnomAD-4.0.0 | 6.84389E-07 | |
25584 | 71 | E/K | 159 | rs1217257725 | 0.5241 | None | gnomAD-2.1.1 | 4.03E-06 | |
25584 | 71 | E/K | 159 | rs1217257725 | 0.5241 | None | gnomAD-4.0.0 | 2.73746E-06 | |
25585 | 72 | N/K | 161 | rs1171173179 | 0.1135 | None | gnomAD-2.1.1 | 3.19E-05 | |
25585 | 72 | N/K | 161 | rs1171173179 | 0.1135 | None | gnomAD-3.1.2 | 1.97E-05 | |
25585 | 72 | N/K | 161 | rs1171173179 | 0.1135 | None | gnomAD-4.0.0 | 1.20032E-06 | |
25586 | 73 | S/G | 162 | rs757243379 | 0.6617 | None | gnomAD-2.1.1 | 8.06E-06 | |
25586 | 73 | S/G | 162 | rs757243379 | 0.6617 | None | gnomAD-4.0.0 | 5.47488E-06 | |
25586 | 73 | S/I | 162 | None | 0.6617 | None | gnomAD-4.0.0 | 1.20032E-06 | |
25586 | 73 | S/R | 162 | rs757243379 | 0.6617 | None | gnomAD-2.1.1 | 2.86E-05 | |
25586 | 73 | S/R | 162 | rs757243379 | 0.6617 | None | gnomAD-3.1.2 | 6.58E-06 | |
25586 | 73 | S/R | 162 | rs757243379 | 0.6617 | None | gnomAD-4.0.0 | 2.47934E-06 | |
25587 | 74 | S/N | 163 | None | 0.3445 | None | gnomAD-4.0.0 | 1.20033E-06 | |
25588 | 75 | G/R | 164 | rs1275050402 | 0.2395 | None | gnomAD-2.1.1 | 4.03E-06 | |
25588 | 75 | G/R | 164 | rs1275050402 | 0.2395 | None | gnomAD-3.1.2 | 6.58E-06 | |
25588 | 75 | G/R | 164 | rs1275050402 | 0.2395 | None | gnomAD-4.0.0 | 2.5636E-06 | |
25589 | 76 | T/A | 165 | rs794729499 | 0.4757 | None | gnomAD-2.1.1 | 4.03E-06 | |
25589 | 76 | T/A | 165 | rs794729499 | 0.4757 | None | gnomAD-3.1.2 | 6.57E-06 | |
25589 | 76 | T/A | 165 | rs794729499 | 0.4757 | None | gnomAD-4.0.0 | 3.71902E-06 | |
25590 | 77 | K/N | 166 | rs1707266415 | 0.2945 | None | gnomAD-3.1.2 | 6.57E-06 | |
25590 | 77 | K/N | 166 | rs1707266415 | 0.2945 | None | gnomAD-4.0.0 | 6.57497E-06 | |
25590 | 77 | K/R | 166 | rs1348119178 | 0.2945 | None | gnomAD-2.1.1 | 4.03E-06 | |
25590 | 77 | K/R | 166 | rs1348119178 | 0.2945 | None | gnomAD-4.0.0 | 1.59207E-06 | |
25592 | 79 | A/T | 169 | None | 0.2535 | None | gnomAD-4.0.0 | 3.18432E-06 | |
25592 | 79 | A/V | 169 | rs1707265300 | 0.2535 | None | gnomAD-4.0.0 | 1.59217E-06 | |
25593 | 80 | F/Y | 171 | rs547186080 | 0.5694 | None | gnomAD-2.1.1 | 7.15E-06 | |
25593 | 80 | F/Y | 171 | rs547186080 | 0.5694 | None | gnomAD-3.1.2 | 1.31E-05 | |
25593 | 80 | F/Y | 171 | rs547186080 | 0.5694 | None | gnomAD-4.0.0 | 8.0579E-06 | |
25598 | 85 | V/I | 177 | rs763761448 | 0.1601 | None | gnomAD-2.1.1 | 8.06E-06 | |
25598 | 85 | V/I | 177 | rs763761448 | 0.1601 | None | gnomAD-4.0.0 | 1.59212E-06 |