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P | V | D | P | P | G | T | P | D | Y | I | D | V | T | R | E | T | I | T | L | K | W | N | P | P | L | R | D | G | G | S | K | I | V | G | Y | S | I | E | K | R | Q | G | N | E | R | W | V | R | C | N | F | T | D | V | S | E | C | Q | Y | T | V | T | G | L | S | P | G | D | R | Y | E | F | R | I | I | A | R | N | A | V | G | T | I | S | P | P | S | Q | S | S | G | I | I | M | T | R | D | E | N | V | P | P | I | V | E | F | G | P | E | Y | F | D | G | L | I | I | K | S | G | E | S | L | R | I | K | A | L | V | Q | G | R | P | V | P | R | V | T | W | F | K | D | G | V | E | I | E | K | R | M | N | M | E | I | T | D | V | L | G | S | T | S | L | F | V | R | D | A | T | R | D | H | R | G | V | Y | T | V | E | A | K | N | A | S | G | S | A | K | A | E | I | K | V | K | V | Q |
P | V | D | P | P | G | T | P | D | Y | I | D | V | T | R | E | T | I | T | L | K | W | N | P | P | L | R | D | G | G | S | K | I | V | G | Y | S | I | E | K | R | Q | G | N | E | R | W | V | R | C | N | F | T | D | V | S | E | C | Q | Y | T | V | T | G | L | S | P | G | D | R | Y | E | F | R | I | I | A | R | N | A | V | G | T | I | S | P | P | S | Q | S | S | G | I | I | M | T | R | D | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
30422 | 1 | P/L | 1 | None | 0.9780 | None | gnomAD-4.0.0 | 1.40508E-06 | |
30423 | 2 | V/I | 2 | rs1699485019 | 0.1343 | None | gnomAD-4.0.0 | 1.05561E-05 | |
30423 | 2 | V/L | 2 | None | 0.1343 | None | gnomAD-4.0.0 | 7.03737E-07 | |
30424 | 3 | D/E | 3 | rs1699307394 | 0.2185 | None | gnomAD-4.0.0 | 4.83532E-06 | |
30425 | 4 | P/L | 4 | None | 0.3266 | None | gnomAD-4.0.0 | 2.06199E-06 | |
30425 | 4 | P/Q | 4 | rs1373323809 | 0.3266 | None | gnomAD-2.1.1 | 4.11E-06 | |
30425 | 4 | P/Q | 4 | rs1373323809 | 0.3266 | None | gnomAD-4.0.0 | 1.37466E-06 | |
30426 | 5 | P/H | 5 | None | 0.1325 | None | gnomAD-4.0.0 | 6.86899E-07 | |
30426 | 5 | P/L | 5 | rs774454485 | 0.1325 | None | gnomAD-2.1.1 | 1.64E-05 | |
30426 | 5 | P/L | 5 | rs774454485 | 0.1325 | None | gnomAD-3.1.2 | 6.58E-06 | |
30426 | 5 | P/L | 5 | rs774454485 | 0.1325 | None | gnomAD-4.0.0 | 5.59745E-06 | |
30426 | 5 | P/S | 5 | rs1431006105 | 0.1325 | None | gnomAD-3.1.2 | 6.57E-06 | |
30426 | 5 | P/S | 5 | rs1431006105 | 0.1325 | None | gnomAD-4.0.0 | 3.86971E-06 | |
30426 | 5 | P/T | 5 | rs1431006105 | 0.1325 | None | gnomAD-4.0.0 | 4.81442E-06 | |
30429 | 8 | P/A | 9 | rs1457717361 | 0.1397 | None | gnomAD-2.1.1 | 4.04E-06 | |
30429 | 8 | P/A | 9 | rs1457717361 | 0.1397 | None | gnomAD-4.0.0 | 2.05519E-06 | |
30429 | 8 | P/L | 9 | None | 0.1397 | None | gnomAD-4.0.0 | 6.85067E-07 | |
30429 | 8 | P/R | 9 | None | 0.1397 | None | gnomAD-4.0.0 | 6.85067E-07 | |
30430 | 9 | D/G | 11 | None | 0.6097 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30432 | 11 | I/T | 13 | None | 0.2415 | None | gnomAD-4.0.0 | 2.05359E-06 | |
30432 | 11 | I/V | 13 | rs766841800 | 0.2415 | None | gnomAD-4.0.0 | 1.59297E-06 | |
30433 | 12 | D/E | 14 | None | 0.4470 | None | gnomAD-4.0.0 | 1.59269E-06 | |
30434 | 13 | V/A | 15 | None | 0.1453 | None | gnomAD-4.0.0 | 1.59268E-06 | |
30435 | 14 | T/I | 16 | rs1060500591 | 0.2585 | None | gnomAD-2.1.1 | 4.03E-06 | |
30435 | 14 | T/I | 16 | rs1060500591 | 0.2585 | None | gnomAD-3.1.2 | 1.97E-05 | |
30435 | 14 | T/I | 16 | rs1060500591 | 0.2585 | None | gnomAD-4.0.0 | 6.19929E-05 | |
30436 | 15 | R/G | 17 | None | 0.5577 | None | gnomAD-4.0.0 | 1.36891E-06 | |
30436 | 15 | R/L | 17 | rs770081431 | 0.5577 | None | gnomAD-2.1.1 | 4.03E-06 | |
30436 | 15 | R/L | 17 | rs770081431 | 0.5577 | None | gnomAD-4.0.0 | 6.84457E-07 | |
30436 | 15 | R/Q | 17 | rs770081431 | 0.5577 | None | gnomAD-2.1.1 | 1.43E-05 | |
30436 | 15 | R/Q | 17 | rs770081431 | 0.5577 | None | gnomAD-3.1.2 | 3.95E-05 | |
30436 | 15 | R/Q | 17 | rs770081431 | 0.5577 | None | gnomAD-4.0.0 | 2.78976E-05 | |
30436 | 15 | R/W | 17 | rs773600127 | 0.5577 | None | gnomAD-2.1.1 | 1.43E-05 | |
30436 | 15 | R/W | 17 | rs773600127 | 0.5577 | None | gnomAD-3.1.2 | 1.97E-05 | |
30436 | 15 | R/W | 17 | rs773600127 | 0.5577 | None | gnomAD-4.0.0 | 1.3019E-05 | |
30437 | 16 | E/K | 18 | None | 0.6643 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30438 | 17 | T/A | 19 | None | 0.2632 | None | gnomAD-4.0.0 | 3.60097E-06 | |
30439 | 18 | I/M | 20 | rs544097378 | 0.0921 | None | gnomAD-2.1.1 | 4.02E-06 | |
30439 | 18 | I/M | 20 | rs544097378 | 0.0921 | None | gnomAD-3.1.2 | 6.57E-06 | |
30439 | 18 | I/M | 20 | rs544097378 | 0.0921 | None | 1000 genomes | 1.99681E-04 | |
30439 | 18 | I/M | 20 | rs544097378 | 0.0921 | None | gnomAD-4.0.0 | 6.56875E-06 | |
30439 | 18 | I/S | 20 | rs561319486 | 0.0921 | None | gnomAD-2.1.1 | 4.02E-06 | |
30439 | 18 | I/S | 20 | rs561319486 | 0.0921 | None | gnomAD-3.1.2 | 6.57E-06 | |
30439 | 18 | I/S | 20 | rs561319486 | 0.0921 | None | 1000 genomes | 1.99681E-04 | |
30439 | 18 | I/S | 20 | rs561319486 | 0.0921 | None | gnomAD-4.0.0 | 2.56304E-06 | |
30439 | 18 | I/T | 20 | rs561319486 | 0.0921 | None | gnomAD-4.0.0 | 2.38819E-05 | |
30440 | 19 | T/I | 21 | rs1446052860 | 0.1820 | None | gnomAD-4.0.0 | 1.36871E-06 | |
30440 | 19 | T/P | 21 | None | 0.1820 | None | gnomAD-4.0.0 | 1.59207E-06 | |
30442 | 21 | K/T | 23 | rs370086155 | 0.3211 | None | gnomAD-2.1.1 | 1.43E-05 | |
30442 | 21 | K/T | 23 | rs370086155 | 0.3211 | None | gnomAD-3.1.2 | 5.92E-05 | |
30442 | 21 | K/T | 23 | rs370086155 | 0.3211 | None | gnomAD-4.0.0 | 1.30159E-05 | |
30443 | 22 | W/R | 24 | rs1396920730 | 0.1042 | None | gnomAD-2.1.1 | 4.02E-06 | |
30443 | 22 | W/R | 24 | rs1396920730 | 0.1042 | None | gnomAD-4.0.0 | 3.18375E-06 | |
30444 | 23 | N/K | 25 | None | 0.7698 | None | gnomAD-4.0.0 | 6.84333E-07 | |
30444 | 23 | N/S | 25 | None | 0.7698 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30445 | 24 | P/Q | 26 | rs749169334 | 0.4748 | None | gnomAD-2.1.1 | 4.02E-06 | |
30445 | 24 | P/Q | 26 | rs749169334 | 0.4748 | None | gnomAD-4.0.0 | 1.36864E-06 | |
30445 | 24 | P/R | 26 | None | 0.4748 | None | gnomAD-2.1.1 | 3.19E-05 | |
30445 | 24 | P/R | 26 | None | 0.4748 | None | gnomAD-4.0.0 | 4.79026E-06 | |
30445 | 24 | P/S | 26 | None | 0.4748 | None | gnomAD-4.0.0 | 1.5919E-06 | |
30446 | 25 | P/L | 27 | rs1699285500 | 0.1595 | None | gnomAD-4.0.0 | 1.09491E-05 | |
30448 | 27 | R/C | 29 | rs756030714 | 0.5457 | None | gnomAD-2.1.1 | 3.93E-05 | |
30448 | 27 | R/C | 29 | rs756030714 | 0.5457 | None | gnomAD-3.1.2 | 3.29E-05 | |
30448 | 27 | R/C | 29 | rs756030714 | 0.5457 | None | gnomAD-4.0.0 | 2.9752E-05 | |
30448 | 27 | R/H | 29 | rs374474227 | 0.5457 | None | gnomAD-2.1.1 | 7.14E-05 | |
30448 | 27 | R/H | 29 | rs374474227 | 0.5457 | None | gnomAD-3.1.2 | 2.63E-05 | |
30448 | 27 | R/H | 29 | rs374474227 | 0.5457 | None | gnomAD-4.0.0 | 6.8799E-05 | |
30448 | 27 | R/L | 29 | None | 0.5457 | None | gnomAD-4.0.0 | 6.84316E-07 | |
30450 | 29 | G/A | 31 | None | 0.3275 | None | gnomAD-4.0.0 | 1.36861E-06 | |
30450 | 29 | G/R | 31 | rs755202685 | 0.3275 | None | gnomAD-2.1.1 | 1.07E-05 | |
30450 | 29 | G/R | 31 | rs755202685 | 0.3275 | None | gnomAD-3.1.2 | 1.97E-05 | |
30450 | 29 | G/R | 31 | rs755202685 | 0.3275 | None | gnomAD-4.0.0 | 6.40753E-06 | |
30451 | 30 | G/D | 32 | rs751610164 | 0.6490 | None | gnomAD-2.1.1 | 2.82E-05 | |
30451 | 30 | G/D | 32 | rs751610164 | 0.6490 | None | gnomAD-3.1.2 | 6.57E-06 | |
30451 | 30 | G/D | 32 | rs751610164 | 0.6490 | None | gnomAD-4.0.0 | 3.09891E-05 | |
30452 | 31 | S/N | 33 | None | 0.2195 | None | gnomAD-4.0.0 | 1.59175E-06 | |
30452 | 31 | S/R | 33 | None | 0.2195 | None | gnomAD-4.0.0 | 2.73722E-06 | |
30453 | 32 | K/T | 34 | None | 0.7566 | None | gnomAD-4.0.0 | 1.59177E-06 | |
30454 | 33 | I/L | 35 | None | 0.1506 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30454 | 33 | I/T | 35 | rs878985220 | 0.1506 | None | gnomAD-2.1.1 | 7.14E-06 | |
30454 | 33 | I/T | 35 | rs878985220 | 0.1506 | None | gnomAD-3.1.2 | 1.32E-05 | |
30454 | 33 | I/T | 35 | rs878985220 | 0.1506 | None | gnomAD-4.0.0 | 1.98348E-05 | |
30455 | 34 | V/A | 36 | rs1281249484 | 0.3217 | None | gnomAD-2.1.1 | 8.05E-06 | |
30455 | 34 | V/A | 36 | rs1281249484 | 0.3217 | None | gnomAD-3.1.2 | 6.57E-06 | |
30455 | 34 | V/A | 36 | rs1281249484 | 0.3217 | None | gnomAD-4.0.0 | 2.4791E-06 | |
30455 | 34 | V/M | 36 | rs766444853 | 0.3217 | None | gnomAD-2.1.1 | 4.02E-06 | |
30455 | 34 | V/M | 36 | rs766444853 | 0.3217 | None | gnomAD-4.0.0 | 4.79007E-06 | |
30456 | 35 | G/D | 37 | rs973729733 | 0.1157 | None | gnomAD-3.1.2 | 6.58E-06 | |
30456 | 35 | G/D | 37 | rs973729733 | 0.1157 | None | gnomAD-4.0.0 | 6.57523E-06 | |
30456 | 35 | G/S | 37 | rs773655064 | 0.1157 | None | gnomAD-2.1.1 | 4.02E-06 | |
30456 | 35 | G/S | 37 | rs773655064 | 0.1157 | None | gnomAD-3.1.2 | 1.32E-05 | |
30456 | 35 | G/S | 37 | rs773655064 | 0.1157 | None | gnomAD-4.0.0 | 1.85939E-06 | |
30457 | 36 | Y/H | 38 | None | 0.1252 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30458 | 37 | S/G | 39 | None | 0.2291 | None | gnomAD-4.0.0 | 1.5918E-06 | |
30458 | 37 | S/N | 39 | rs376634713 | 0.2291 | None | gnomAD-2.1.1 | 7.86E-05 | |
30458 | 37 | S/N | 39 | rs376634713 | 0.2291 | None | gnomAD-3.1.2 | 8.55E-05 | |
30458 | 37 | S/N | 39 | rs376634713 | 0.2291 | None | 1000 genomes | 1.99681E-04 | |
30458 | 37 | S/N | 39 | rs376634713 | 0.2291 | None | gnomAD-4.0.0 | 7.80872E-05 | |
30458 | 37 | S/R | 39 | rs762232248 | 0.2291 | None | gnomAD-2.1.1 | 8.05E-06 | |
30458 | 37 | S/R | 39 | rs762232248 | 0.2291 | None | gnomAD-4.0.0 | 3.18366E-06 | |
30459 | 38 | I/N | 40 | None | 0.0771 | None | gnomAD-4.0.0 | 6.8431E-07 | |
30459 | 38 | I/T | 40 | rs1336202751 | 0.0771 | None | gnomAD-2.1.1 | 4.02E-06 | |
30459 | 38 | I/T | 40 | rs1336202751 | 0.0771 | None | gnomAD-4.0.0 | 3.42155E-06 | |
30460 | 39 | E/K | 41 | rs908278682 | 0.1729 | None | gnomAD-2.1.1 | 3.19E-05 | |
30460 | 39 | E/K | 41 | rs908278682 | 0.1729 | None | gnomAD-3.1.2 | 6.57E-06 | |
30460 | 39 | E/K | 41 | rs908278682 | 0.1729 | None | gnomAD-4.0.0 | 6.57393E-06 | |
30462 | 41 | R/Q | 43 | rs794729529 | 0.2258 | None | gnomAD-2.1.1 | 2.01E-05 | |
30462 | 41 | R/Q | 43 | rs794729529 | 0.2258 | None | gnomAD-3.1.2 | 1.97E-05 | |
30462 | 41 | R/Q | 43 | rs794729529 | 0.2258 | None | gnomAD-4.0.0 | 2.85122E-05 | |
30462 | 41 | R/W | 43 | rs373623340 | 0.2258 | None | gnomAD-2.1.1 | 5.36E-05 | |
30462 | 41 | R/W | 43 | rs373623340 | 0.2258 | None | gnomAD-3.1.2 | 1.0523E-04 | |
30462 | 41 | R/W | 43 | rs373623340 | 0.2258 | None | 1000 genomes | 5.99042E-04 | |
30462 | 41 | R/W | 43 | rs373623340 | 0.2258 | None | gnomAD-4.0.0 | 2.29324E-05 | |
30467 | 46 | R/C | 64 | rs775591945 | 0.8227 | None | gnomAD-2.1.1 | 5.72E-05 | |
30467 | 46 | R/C | 64 | rs775591945 | 0.8227 | None | gnomAD-3.1.2 | 1.05255E-04 | |
30467 | 46 | R/C | 64 | rs775591945 | 0.8227 | None | gnomAD-4.0.0 | 1.76042E-04 | |
30467 | 46 | R/H | 64 | rs572793448 | 0.8227 | None | gnomAD-2.1.1 | 2.15E-05 | |
30467 | 46 | R/H | 64 | rs572793448 | 0.8227 | None | gnomAD-3.1.2 | 8.54E-05 | |
30467 | 46 | R/H | 64 | rs572793448 | 0.8227 | None | 1000 genomes | 1.99681E-04 | |
30467 | 46 | R/H | 64 | rs572793448 | 0.8227 | None | gnomAD-4.0.0 | 1.36348E-05 | |
30467 | 46 | R/S | 64 | None | 0.8227 | None | gnomAD-4.0.0 | 6.84349E-07 | |
30468 | 47 | W/L | 65 | None | 0.2388 | None | gnomAD-4.0.0 | 3.18384E-06 | |
30468 | 47 | W/R | 65 | None | 0.2388 | None | gnomAD-4.0.0 | 1.5919E-06 | |
30469 | 48 | V/M | 66 | None | 0.4846 | None | gnomAD-4.0.0 | 3.18384E-06 | |
30470 | 49 | R/I | 67 | rs371081348 | 0.3644 | None | gnomAD-2.1.1 | 4.03E-06 | |
30470 | 49 | R/I | 67 | rs371081348 | 0.3644 | None | gnomAD-3.1.2 | 1.97E-05 | |
30470 | 49 | R/I | 67 | rs371081348 | 0.3644 | None | gnomAD-4.0.0 | 1.97215E-05 | |
30470 | 49 | R/T | 67 | rs371081348 | 0.3644 | None | gnomAD-2.1.1 | 4.03E-06 | |
30470 | 49 | R/T | 67 | rs371081348 | 0.3644 | None | gnomAD-4.0.0 | 1.59193E-06 | |
30471 | 50 | C/S | 68 | rs1699261466 | 0.1616 | None | gnomAD-3.1.2 | 2.63E-05 | |
30471 | 50 | C/S | 68 | rs1699261466 | 0.1616 | None | gnomAD-4.0.0 | 3.42175E-06 | |
30471 | 50 | C/Y | 68 | None | 0.1616 | None | gnomAD-4.0.0 | 6.84349E-07 | |
30472 | 51 | N/D | 69 | None | 0.1182 | None | gnomAD-4.0.0 | 1.592E-06 | |
30472 | 51 | N/I | 69 | rs866951961 | 0.1182 | None | gnomAD-3.1.2 | 6.57E-06 | |
30472 | 51 | N/I | 69 | rs866951961 | 0.1182 | None | gnomAD-4.0.0 | 1.48754E-05 | |
30474 | 53 | T/I | 72 | rs1161044987 | 0.7456 | None | gnomAD-2.1.1 | 4.03E-06 | |
30474 | 53 | T/I | 72 | rs1161044987 | 0.7456 | None | gnomAD-4.0.0 | 1.59203E-06 | |
30476 | 55 | V/I | 77 | rs377531244 | 0.1385 | None | gnomAD-2.1.1 | 6.08E-05 | |
30476 | 55 | V/I | 77 | rs377531244 | 0.1385 | None | gnomAD-3.1.2 | 1.24903E-04 | |
30476 | 55 | V/I | 77 | rs377531244 | 0.1385 | None | gnomAD-4.0.0 | 4.71081E-05 | |
30477 | 56 | S/N | 83 | None | 0.5663 | None | gnomAD-4.0.0 | 6.84373E-07 | |
30477 | 56 | S/T | 83 | rs1699253758 | 0.5663 | None | gnomAD-4.0.0 | 6.84373E-07 | |
30478 | 57 | E/D | 88 | rs373900294 | 0.5781 | None | gnomAD-2.1.1 | 2.51E-05 | |
30478 | 57 | E/D | 88 | rs373900294 | 0.5781 | None | gnomAD-3.1.2 | 1.05168E-04 | |
30478 | 57 | E/D | 88 | rs373900294 | 0.5781 | None | gnomAD-4.0.0 | 1.42561E-05 | |
30478 | 57 | E/V | 88 | rs794729531 | 0.5781 | None | gnomAD-2.1.1 | 2.02E-05 | |
30478 | 57 | E/V | 88 | rs794729531 | 0.5781 | None | gnomAD-3.1.2 | 1.31E-05 | |
30478 | 57 | E/V | 88 | rs794729531 | 0.5781 | None | gnomAD-4.0.0 | 1.02532E-05 | |
30479 | 58 | C/S | 89 | rs1248613242 | 0.1381 | None | gnomAD-2.1.1 | 3.19E-05 | |
30479 | 58 | C/S | 89 | rs1248613242 | 0.1381 | None | gnomAD-3.1.2 | 6.57E-06 | |
30479 | 58 | C/S | 89 | rs1248613242 | 0.1381 | None | gnomAD-4.0.0 | 1.2397E-06 | |
30479 | 58 | C/Y | 89 | None | 0.1381 | None | gnomAD-4.0.0 | 2.73751E-06 | |
30480 | 59 | Q/H | 90 | rs794729532 | 0.4467 | None | gnomAD-2.1.1 | 4.03E-06 | |
30480 | 59 | Q/H | 90 | rs794729532 | 0.4467 | None | gnomAD-3.1.2 | 6.57E-06 | |
30480 | 59 | Q/H | 90 | rs794729532 | 0.4467 | None | gnomAD-4.0.0 | 2.47947E-06 | |
30482 | 61 | T/A | 92 | None | 0.3270 | None | gnomAD-4.0.0 | 2.40065E-06 | |
30482 | 61 | T/K | 92 | rs1219629332 | 0.3270 | None | gnomAD-2.1.1 | 3.19E-05 | |
30482 | 61 | T/K | 92 | rs1219629332 | 0.3270 | None | gnomAD-3.1.2 | 6.57E-06 | |
30482 | 61 | T/K | 92 | rs1219629332 | 0.3270 | None | gnomAD-4.0.0 | 6.57315E-06 | |
30484 | 63 | T/I | 94 | rs1318850182 | 0.6165 | None | gnomAD-3.1.2 | 6.57E-06 | |
30484 | 63 | T/I | 94 | rs1318850182 | 0.6165 | None | gnomAD-4.0.0 | 6.57402E-06 | |
30485 | 64 | G/R | 96 | rs748001852 | 0.5375 | None | gnomAD-2.1.1 | 4.03E-06 | |
30485 | 64 | G/R | 96 | rs748001852 | 0.5375 | None | gnomAD-4.0.0 | 1.59231E-06 | |
30486 | 65 | L/H | 97 | None | 0.1247 | None | gnomAD-4.0.0 | 1.59225E-06 | |
30486 | 65 | L/V | 97 | None | 0.1247 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30487 | 66 | S/G | 98 | rs1487384647 | 0.3262 | None | gnomAD-2.1.1 | 4.03E-06 | |
30487 | 66 | S/G | 98 | rs1487384647 | 0.3262 | None | gnomAD-4.0.0 | 1.59227E-06 | |
30488 | 67 | P/L | 99 | rs868503876 | 0.4842 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30489 | 68 | G/V | 100 | rs755183656 | 0.3459 | None | gnomAD-2.1.1 | 4.03E-06 | |
30489 | 68 | G/V | 100 | rs755183656 | 0.3459 | None | gnomAD-3.1.2 | 6.57E-06 | |
30489 | 68 | G/V | 100 | rs755183656 | 0.3459 | None | gnomAD-4.0.0 | 1.23975E-06 | |
30490 | 69 | D/G | 102 | rs750498415 | 0.2957 | None | gnomAD-2.1.1 | 1.21E-05 | |
30490 | 69 | D/G | 102 | rs750498415 | 0.2957 | None | gnomAD-4.0.0 | 1.2739E-05 | |
30490 | 69 | D/N | 102 | rs758532843 | 0.2957 | None | gnomAD-2.1.1 | 4.03E-06 | |
30490 | 69 | D/N | 102 | rs758532843 | 0.2957 | None | gnomAD-4.0.0 | 1.36885E-06 | |
30490 | 69 | D/Y | 102 | rs758532843 | 0.2957 | None | gnomAD-2.1.1 | 8.07E-06 | |
30490 | 69 | D/Y | 102 | rs758532843 | 0.2957 | None | gnomAD-4.0.0 | 8.8975E-06 | |
30491 | 70 | R/C | 103 | rs1699239943 | 0.6253 | None | gnomAD-3.1.2 | 6.57E-06 | |
30491 | 70 | R/C | 103 | rs1699239943 | 0.6253 | None | gnomAD-4.0.0 | 3.09954E-06 | |
30491 | 70 | R/G | 103 | None | 0.6253 | None | gnomAD-4.0.0 | 2.73776E-06 | |
30491 | 70 | R/H | 103 | rs765777852 | 0.6253 | None | gnomAD-2.1.1 | 1.43E-05 | |
30491 | 70 | R/H | 103 | rs765777852 | 0.6253 | None | gnomAD-3.1.2 | 6.57E-06 | |
30491 | 70 | R/H | 103 | rs765777852 | 0.6253 | None | gnomAD-4.0.0 | 4.95925E-06 | |
30492 | 71 | Y/C | 104 | rs769678577 | 0.1338 | None | gnomAD-2.1.1 | 2.15E-05 | |
30492 | 71 | Y/C | 104 | rs769678577 | 0.1338 | None | gnomAD-3.1.2 | 6.57E-06 | |
30492 | 71 | Y/C | 104 | rs769678577 | 0.1338 | None | gnomAD-4.0.0 | 1.79754E-05 | |
30493 | 72 | E/K | 105 | None | 0.1612 | None | gnomAD-4.0.0 | 4.7771E-06 | |
30494 | 73 | F/L | 106 | None | 0.1160 | None | gnomAD-4.0.0 | 1.59241E-06 | |
30496 | 75 | I/V | 108 | None | 0.0655 | None | gnomAD-4.0.0 | 1.59217E-06 | |
30497 | 76 | I/V | 109 | None | 0.1975 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30498 | 77 | A/P | 110 | rs368724043 | 0.1009 | None | gnomAD-3.1.2 | 6.57E-06 | |
30498 | 77 | A/P | 110 | rs368724043 | 0.1009 | None | gnomAD-4.0.0 | 6.56771E-06 | |
30498 | 77 | A/T | 110 | None | 0.1009 | None | gnomAD-2.1.1 | 4.03E-06 | |
30498 | 77 | A/T | 110 | None | 0.1009 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30501 | 80 | A/V | 113 | rs1299510786 | 0.3728 | None | gnomAD-2.1.1 | 4.03E-06 | |
30501 | 80 | A/V | 113 | rs1299510786 | 0.3728 | None | gnomAD-4.0.0 | 3.18468E-06 | |
30502 | 81 | V/A | 114 | None | 0.7478 | None | gnomAD-4.0.0 | 1.59216E-06 | |
30502 | 81 | V/I | 114 | rs745705323 | 0.7478 | None | gnomAD-2.1.1 | 4.03E-06 | |
30502 | 81 | V/I | 114 | rs745705323 | 0.7478 | None | gnomAD-4.0.0 | 1.59221E-06 | |
30503 | 82 | G/E | 115 | None | 0.3339 | None | gnomAD-4.0.0 | 6.84395E-07 | |
30503 | 82 | G/R | 115 | rs1161946493 | 0.3339 | None | gnomAD-2.1.1 | 4.03E-06 | |
30503 | 82 | G/R | 115 | rs1161946493 | 0.3339 | None | gnomAD-4.0.0 | 1.59221E-06 | |
30503 | 82 | G/V | 115 | rs1474006988 | 0.3339 | None | gnomAD-2.1.1 | 4.03E-06 | |
30503 | 82 | G/V | 115 | rs1474006988 | 0.3339 | None | gnomAD-4.0.0 | 6.84395E-07 | |
30506 | 85 | S/C | 118 | None | 0.1177 | None | gnomAD-4.0.0 | 1.20033E-06 | |
30506 | 85 | S/N | 118 | rs1699224969 | 0.1177 | None | gnomAD-4.0.0 | 1.5923E-06 | |
30507 | 86 | P/L | 119 | rs774107448 | 0.3888 | None | gnomAD-2.1.1 | 2.02E-05 | |
30507 | 86 | P/L | 119 | rs774107448 | 0.3888 | None | gnomAD-3.1.2 | 1.32E-05 | |
30507 | 86 | P/L | 119 | rs774107448 | 0.3888 | None | gnomAD-4.0.0 | 1.61183E-05 | |
30507 | 86 | P/T | 119 | None | 0.3888 | None | gnomAD-4.0.0 | 1.20033E-06 | |
30508 | 87 | P/L | 120 | rs1265539582 | 0.3746 | None | gnomAD-2.1.1 | 4.03E-06 | |
30508 | 87 | P/L | 120 | rs1265539582 | 0.3746 | None | gnomAD-4.0.0 | 1.59248E-06 | |
30508 | 87 | P/S | 120 | None | 0.3746 | None | gnomAD-4.0.0 | 1.59244E-06 | |
30510 | 89 | Q/E | 122 | None | 0.8170 | None | gnomAD-4.0.0 | 1.20034E-06 | |
30511 | 90 | S/Y | 123 | None | 0.2584 | None | gnomAD-4.0.0 | 1.36896E-06 | |
30513 | 92 | G/D | 125 | rs748076186 | 0.2855 | None | gnomAD-2.1.1 | 1.21E-05 | |
30513 | 92 | G/D | 125 | rs748076186 | 0.2855 | None | gnomAD-4.0.0 | 6.84536E-06 | |
30514 | 93 | I/T | 126 | rs1699214522 | 0.6565 | None | gnomAD-3.1.2 | 6.57E-06 | |
30514 | 93 | I/T | 126 | rs1699214522 | 0.6565 | None | gnomAD-4.0.0 | 6.5722E-06 | |
30514 | 93 | I/V | 126 | rs1056281241 | 0.6565 | None | gnomAD-2.1.1 | 4.04E-06 | |
30514 | 93 | I/V | 126 | rs1056281241 | 0.6565 | None | gnomAD-4.0.0 | 1.59292E-06 | |
30515 | 94 | I/M | 127 | None | 0.1591 | None | gnomAD-4.0.0 | 1.59315E-06 | |
30515 | 94 | I/T | 127 | rs2154150025 | 0.1591 | None | gnomAD-4.0.0 | 1.59299E-06 | |
30515 | 94 | I/V | 127 | rs1699213843 | 0.1591 | None | gnomAD-3.1.2 | 6.57E-06 | |
30515 | 94 | I/V | 127 | rs1699213843 | 0.1591 | None | gnomAD-4.0.0 | 2.0299E-06 | |
30516 | 95 | M/I | 129 | None | 0.4413 | None | gnomAD-4.0.0 | 1.5936E-06 | |
30516 | 95 | M/V | 129 | None | 0.4413 | None | gnomAD-4.0.0 | 1.59315E-06 | |
30518 | 97 | R/G | 131 | None | 0.5346 | None | gnomAD-4.0.0 | 3.18731E-06 | |
30519 | 98 | D/E | 132 | rs202185465 | 0.4924 | None | gnomAD-2.1.1 | 7.19E-06 | |
30519 | 98 | D/E | 132 | rs202185465 | 0.4924 | None | gnomAD-3.1.2 | 2.63E-05 | |
30519 | 98 | D/E | 132 | rs202185465 | 0.4924 | None | gnomAD-4.0.0 | 2.62919E-05 | |
30519 | 98 | D/Y | 132 | None | 0.4924 | None | gnomAD-4.0.0 | 6.8475E-07 |