10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | V | I | V | T | G | L | Q | D | T | T | V | S | S | D | S | V | A | K | F | A | V | K | A | T | G | E | P | R | P | T | A | I | W | T | K | D | G | K | A | I | T | Q | G | G | K | Y | K | L | S | E | D | K | G | G | F | F | L | E | I | H | K | T | D | T | S | D | S | G | L | Y | T | C | T | V | K | N | S | A | G | S | V | S | S | S | C | K | L | T | I |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
35420 | 1 | P/R | 1 | rs367732354 | 0.2100 | None | gnomAD-3.1.2 | 6.57E-06 | |
35420 | 1 | P/R | 1 | rs367732354 | 0.2100 | None | gnomAD-4.0.0 | 6.57402E-06 | |
35420 | 1 | P/S | 1 | rs567191587 | 0.2100 | None | gnomAD-2.1.1 | 3.21E-05 | |
35420 | 1 | P/S | 1 | rs567191587 | 0.2100 | None | gnomAD-3.1.2 | 1.97E-05 | |
35420 | 1 | P/S | 1 | rs567191587 | 0.2100 | None | 1000 genomes | 1.99681E-04 | |
35420 | 1 | P/S | 1 | rs567191587 | 0.2100 | None | gnomAD-4.0.0 | 4.95683E-06 | |
35421 | 2 | V/L | 2 | None | 0.6669 | None | gnomAD-4.0.0 | 1.59093E-06 | |
35423 | 4 | V/F | 4 | rs763752622 | 0.4411 | None | gnomAD-2.1.1 | 8.03E-06 | |
35423 | 4 | V/F | 4 | rs763752622 | 0.4411 | None | gnomAD-3.1.2 | 5.26E-05 | |
35423 | 4 | V/F | 4 | rs763752622 | 0.4411 | None | gnomAD-4.0.0 | 1.92127E-05 | |
35424 | 5 | T/A | 5 | None | 0.4554 | None | gnomAD-4.0.0 | 1.20034E-06 | |
35425 | 6 | G/A | 7 | rs1204851576 | 0.3359 | None | gnomAD-2.1.1 | 4.01E-06 | |
35425 | 6 | G/A | 7 | rs1204851576 | 0.3359 | None | gnomAD-4.0.0 | 1.59096E-06 | |
35425 | 6 | G/R | 7 | rs775097433 | 0.3359 | None | gnomAD-2.1.1 | 4.01E-06 | |
35426 | 7 | L/S | 8 | None | 0.1998 | None | gnomAD-4.0.0 | 1.59095E-06 | |
35427 | 8 | Q/R | 9 | None | 0.8603 | None | gnomAD-4.0.0 | 1.59097E-06 | |
35428 | 9 | D/V | 11 | rs759065895 | 0.5917 | None | gnomAD-2.1.1 | 4.01E-06 | |
35428 | 9 | D/V | 11 | rs759065895 | 0.5917 | None | gnomAD-4.0.0 | 4.77287E-06 | |
35429 | 10 | T/A | 13 | None | 0.3162 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35429 | 10 | T/I | 13 | rs1241466221 | 0.3162 | None | gnomAD-3.1.2 | 6.57E-06 | |
35429 | 10 | T/I | 13 | rs1241466221 | 0.3162 | None | gnomAD-4.0.0 | 6.56961E-06 | |
35429 | 10 | T/K | 13 | rs1241466221 | 0.3162 | None | gnomAD-2.1.1 | 2.01E-05 | |
35429 | 10 | T/K | 13 | rs1241466221 | 0.3162 | None | gnomAD-4.0.0 | 7.95484E-06 | |
35429 | 10 | T/S | 13 | rs878963350 | 0.3162 | None | gnomAD-3.1.2 | 1.31E-05 | |
35429 | 10 | T/S | 13 | rs878963350 | 0.3162 | None | gnomAD-4.0.0 | 1.3137E-05 | |
35430 | 11 | T/A | 14 | rs1225799039 | 0.6335 | None | gnomAD-2.1.1 | 3.19E-05 | |
35430 | 11 | T/A | 14 | rs1225799039 | 0.6335 | None | gnomAD-3.1.2 | 6.57E-06 | |
35430 | 11 | T/A | 14 | rs1225799039 | 0.6335 | None | gnomAD-4.0.0 | 6.57099E-06 | |
35430 | 11 | T/I | 14 | None | 0.6335 | None | gnomAD-4.0.0 | 1.59099E-06 | |
35430 | 11 | T/S | 14 | None | 0.6335 | None | gnomAD-4.0.0 | 1.59099E-06 | |
35431 | 12 | V/A | 16 | rs770923321 | 0.1874 | None | gnomAD-2.1.1 | 4.01E-06 | |
35431 | 12 | V/A | 16 | rs770923321 | 0.1874 | None | gnomAD-4.0.0 | 1.59101E-06 | |
35431 | 12 | V/L | 16 | rs774220321 | 0.1874 | None | gnomAD-2.1.1 | 4.01E-06 | |
35431 | 12 | V/L | 16 | rs774220321 | 0.1874 | None | gnomAD-4.0.0 | 1.59102E-06 | |
35432 | 13 | S/F | 18 | None | 0.4293 | None | gnomAD-4.0.0 | 6.84167E-07 | |
35432 | 13 | S/Y | 18 | rs773091136 | 0.4293 | None | gnomAD-2.1.1 | 4.01E-06 | |
35432 | 13 | S/Y | 18 | rs773091136 | 0.4293 | None | gnomAD-4.0.0 | 6.84167E-07 | |
35433 | 14 | S/L | 23 | None | 0.4816 | None | gnomAD-4.0.0 | 1.59112E-06 | |
35434 | 15 | D/E | 24 | rs1371891927 | 0.6487 | None | gnomAD-2.1.1 | 3.18E-05 | |
35434 | 15 | D/E | 24 | rs1371891927 | 0.6487 | None | gnomAD-3.1.2 | 6.57E-06 | |
35434 | 15 | D/E | 24 | rs1371891927 | 0.6487 | None | gnomAD-4.0.0 | 6.5703E-06 | |
35434 | 15 | D/G | 24 | rs1362199779 | 0.6487 | None | gnomAD-2.1.1 | 4.01E-06 | |
35434 | 15 | D/G | 24 | rs1362199779 | 0.6487 | None | gnomAD-3.1.2 | 6.57E-06 | |
35434 | 15 | D/G | 24 | rs1362199779 | 0.6487 | None | gnomAD-4.0.0 | 3.71785E-06 | |
35434 | 15 | D/H | 24 | rs770168784 | 0.6487 | None | gnomAD-2.1.1 | 4.01E-06 | |
35434 | 15 | D/H | 24 | rs770168784 | 0.6487 | None | gnomAD-4.0.0 | 6.84185E-07 | |
35434 | 15 | D/Y | 24 | None | 0.6487 | None | gnomAD-4.0.0 | 6.84185E-07 | |
35435 | 16 | S/G | 25 | rs1159073681 | 0.2340 | None | gnomAD-2.1.1 | 4.01E-06 | |
35435 | 16 | S/G | 25 | rs1159073681 | 0.2340 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35435 | 16 | S/I | 25 | rs1423928961 | 0.2340 | None | gnomAD-3.1.2 | 6.57E-06 | |
35435 | 16 | S/I | 25 | rs1423928961 | 0.2340 | None | gnomAD-4.0.0 | 6.56961E-06 | |
35435 | 16 | S/N | 25 | None | 0.2340 | None | gnomAD-4.0.0 | 6.84215E-07 | |
35435 | 16 | S/R | 25 | rs1688529172 | 0.2340 | None | gnomAD-3.1.2 | 6.57E-06 | |
35435 | 16 | S/R | 25 | rs1688529172 | 0.2340 | None | gnomAD-4.0.0 | 2.02978E-06 | |
35435 | 16 | S/T | 25 | rs1423928961 | 0.2340 | None | gnomAD-2.1.1 | 8.03E-06 | |
35435 | 16 | S/T | 25 | rs1423928961 | 0.2340 | None | gnomAD-4.0.0 | 7.52637E-06 | |
35437 | 18 | A/T | 28 | None | 0.1314 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35438 | 19 | K/E | 29 | rs755067124 | 0.4964 | None | gnomAD-2.1.1 | 8.03E-06 | |
35438 | 19 | K/E | 29 | rs755067124 | 0.4964 | None | gnomAD-3.1.2 | 1.31E-05 | |
35438 | 19 | K/E | 29 | rs755067124 | 0.4964 | None | gnomAD-4.0.0 | 3.09871E-06 | |
35439 | 20 | F/L | 30 | None | 0.1598 | None | gnomAD-4.0.0 | 1.36892E-06 | |
35439 | 20 | F/S | 30 | None | 0.1598 | None | gnomAD-4.0.0 | 1.59251E-06 | |
35440 | 21 | A/S | 31 | None | 0.3105 | None | gnomAD-4.0.0 | 1.5927E-06 | |
35440 | 21 | A/V | 31 | rs747111465 | 0.3105 | None | gnomAD-2.1.1 | 2.81E-05 | |
35440 | 21 | A/V | 31 | rs747111465 | 0.3105 | None | gnomAD-4.0.0 | 1.11496E-05 | |
35441 | 22 | V/F | 33 | None | 0.1235 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35442 | 23 | K/E | 34 | None | 0.5500 | None | gnomAD-4.0.0 | 2.40064E-06 | |
35442 | 23 | K/R | 34 | rs1688520726 | 0.5500 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35443 | 24 | A/G | 35 | None | 0.1557 | None | gnomAD-4.0.0 | 3.60097E-06 | |
35443 | 24 | A/T | 35 | rs1369230756 | 0.1557 | None | gnomAD-2.1.1 | 4.02E-06 | |
35443 | 24 | A/T | 35 | rs1369230756 | 0.1557 | None | gnomAD-4.0.0 | 1.5929E-06 | |
35444 | 25 | T/A | 38 | rs1688516881 | 0.6446 | None | gnomAD-4.0.0 | 1.36984E-06 | |
35444 | 25 | T/I | 38 | rs1452745293 | 0.6446 | None | gnomAD-2.1.1 | 3.18E-05 | |
35444 | 25 | T/I | 38 | rs1452745293 | 0.6446 | None | gnomAD-3.1.2 | 6.57E-06 | |
35444 | 25 | T/I | 38 | rs1452745293 | 0.6446 | None | gnomAD-4.0.0 | 3.85081E-06 | |
35444 | 25 | T/P | 38 | None | 0.6446 | None | gnomAD-4.0.0 | 6.84922E-07 | |
35445 | 26 | G/E | 40 | None | 0.3028 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35447 | 28 | P/R | 42 | None | 0.4914 | None | gnomAD-4.0.0 | 8.23794E-06 | |
35447 | 28 | P/S | 42 | None | 0.4914 | None | gnomAD-4.0.0 | 2.05894E-06 | |
35448 | 29 | R/Q | 43 | rs369703073 | 0.6450 | None | gnomAD-2.1.1 | 2.16E-05 | |
35448 | 29 | R/Q | 43 | rs369703073 | 0.6450 | None | gnomAD-3.1.2 | 6.57E-06 | |
35448 | 29 | R/Q | 43 | rs369703073 | 0.6450 | None | gnomAD-4.0.0 | 1.74241E-05 | |
35448 | 29 | R/W | 43 | rs530453291 | 0.6450 | None | gnomAD-2.1.1 | 4.31E-05 | |
35448 | 29 | R/W | 43 | rs530453291 | 0.6450 | None | gnomAD-3.1.2 | 2.63E-05 | |
35448 | 29 | R/W | 43 | rs530453291 | 0.6450 | None | 1000 genomes | 1.99681E-04 | |
35448 | 29 | R/W | 43 | rs530453291 | 0.6450 | None | gnomAD-4.0.0 | 1.36869E-05 | |
35449 | 30 | P/L | 44 | rs1688512562 | 0.1755 | None | gnomAD-3.1.2 | 6.57E-06 | |
35449 | 30 | P/L | 44 | rs1688512562 | 0.1755 | None | gnomAD-4.0.0 | 6.56538E-06 | |
35449 | 30 | P/Q | 44 | rs1688512562 | 0.1755 | None | gnomAD-4.0.0 | 6.43209E-06 | |
35450 | 31 | T/I | 45 | rs371022420 | 0.5771 | None | gnomAD-4.0.0 | 1.37635E-06 | |
35450 | 31 | T/S | 45 | rs371022420 | 0.5771 | None | gnomAD-2.1.1 | 6.14E-05 | |
35450 | 31 | T/S | 45 | rs371022420 | 0.5771 | None | gnomAD-3.1.2 | 1.6423E-04 | |
35450 | 31 | T/S | 45 | rs371022420 | 0.5771 | None | 1000 genomes | 1.99681E-04 | |
35450 | 31 | T/S | 45 | rs371022420 | 0.5771 | None | gnomAD-4.0.0 | 3.48809E-05 | |
35452 | 33 | I/M | 47 | None | 0.6101 | None | gnomAD-4.0.0 | 1.61619E-06 | |
35453 | 34 | W/C | 48 | None | 0.1564 | None | gnomAD-4.0.0 | 1.20034E-06 | |
35453 | 34 | W/R | 48 | None | 0.1564 | None | gnomAD-4.0.0 | 1.61741E-06 | |
35454 | 35 | T/P | 49 | rs1476312387 | 0.2219 | None | gnomAD-4.0.0 | 1.62059E-06 | |
35455 | 36 | K/N | 50 | rs757588041 | 0.1227 | None | gnomAD-2.1.1 | 8.32E-06 | |
35455 | 36 | K/N | 50 | rs757588041 | 0.1227 | None | gnomAD-4.0.0 | 3.26314E-06 | |
35456 | 37 | D/V | 51 | rs1288351302 | 0.5016 | None | gnomAD-4.0.0 | 1.64028E-06 | |
35457 | 38 | G/V | 52 | None | 0.5051 | None | gnomAD-4.0.0 | 6.93753E-07 | |
35458 | 39 | K/E | 55 | None | 0.8060 | None | gnomAD-4.0.0 | 1.38739E-06 | |
35458 | 39 | K/R | 55 | rs1558983295 | 0.8060 | None | gnomAD-2.1.1 | 4.23E-06 | |
35458 | 39 | K/T | 55 | None | 0.8060 | None | gnomAD-4.0.0 | 1.6442E-06 | |
35459 | 40 | A/V | 56 | rs879170800 | 0.5297 | None | gnomAD-3.1.2 | 6.57E-06 | |
35459 | 40 | A/V | 56 | rs879170800 | 0.5297 | None | gnomAD-4.0.0 | 9.32468E-06 | |
35460 | 41 | I/T | 58 | rs1398739704 | 0.1569 | None | gnomAD-2.1.1 | 3.18E-05 | |
35460 | 41 | I/T | 58 | rs1398739704 | 0.1569 | None | gnomAD-3.1.2 | 1.31E-05 | |
35460 | 41 | I/T | 58 | rs1398739704 | 0.1569 | None | gnomAD-4.0.0 | 5.63877E-06 | |
35460 | 41 | I/V | 58 | rs1688408023 | 0.1569 | None | gnomAD-4.0.0 | 1.67422E-06 | |
35461 | 42 | T/A | 59 | rs1452738777 | 0.7633 | None | gnomAD-2.1.1 | 4.35E-06 | |
35461 | 42 | T/A | 59 | rs1452738777 | 0.7633 | None | gnomAD-4.0.0 | 1.6385E-06 | |
35461 | 42 | T/I | 59 | rs773250184 | 0.7633 | None | gnomAD-2.1.1 | 8.7E-06 | |
35461 | 42 | T/I | 59 | rs773250184 | 0.7633 | None | gnomAD-4.0.0 | 3.27724E-06 | |
35462 | 43 | Q/R | 70 | rs376392819 | 0.5035 | None | gnomAD-3.1.2 | 3.94E-05 | |
35462 | 43 | Q/R | 70 | rs376392819 | 0.5035 | None | gnomAD-4.0.0 | 5.6268E-06 | |
35463 | 44 | G/A | 73 | rs373369136 | 0.4075 | None | gnomAD-2.1.1 | 1.89E-05 | |
35463 | 44 | G/A | 73 | rs373369136 | 0.4075 | None | gnomAD-3.1.2 | 4.6E-05 | |
35463 | 44 | G/A | 73 | rs373369136 | 0.4075 | None | gnomAD-4.0.0 | 6.55598E-05 | |
35463 | 44 | G/R | 73 | rs1474079403 | 0.4075 | None | gnomAD-3.1.2 | 6.57E-06 | |
35463 | 44 | G/R | 73 | rs1474079403 | 0.4075 | None | gnomAD-4.0.0 | 1.06155E-05 | |
35464 | 45 | G/D | 102 | rs528138560 | 0.7732 | None | gnomAD-3.1.2 | 6.57E-06 | |
35464 | 45 | G/D | 102 | rs528138560 | 0.7732 | None | 1000 genomes | 1.99681E-04 | |
35464 | 45 | G/D | 102 | rs528138560 | 0.7732 | None | gnomAD-4.0.0 | 2.59754E-06 | |
35464 | 45 | G/R | 102 | None | 0.7732 | None | gnomAD-4.0.0 | 6.89775E-07 | |
35465 | 46 | K/T | 115 | rs1408549737 | 0.2181 | None | gnomAD-3.1.2 | 6.57E-06 | |
35465 | 46 | K/T | 115 | rs1408549737 | 0.2181 | None | gnomAD-4.0.0 | 2.59457E-06 | |
35468 | 49 | L/H | 123 | rs952475900 | 0.2615 | None | gnomAD-2.1.1 | 8.32E-06 | |
35468 | 49 | L/H | 123 | rs952475900 | 0.2615 | None | gnomAD-4.0.0 | 1.99363E-05 | |
35468 | 49 | L/P | 123 | None | 0.2615 | None | gnomAD-4.0.0 | 1.37492E-06 | |
35469 | 50 | S/P | 125 | None | 0.3833 | None | gnomAD-4.0.0 | 3.20718E-06 | |
35471 | 52 | D/N | 130 | None | 0.4958 | None | gnomAD-4.0.0 | 6.86113E-07 | |
35472 | 53 | K/N | 131 | rs776781963 | 0.7489 | None | gnomAD-2.1.1 | 4.06E-06 | |
35472 | 53 | K/N | 131 | rs776781963 | 0.7489 | None | gnomAD-4.0.0 | 6.85476E-07 | |
35473 | 54 | G/R | 134 | rs768859424 | 0.2596 | None | gnomAD-2.1.1 | 8.12E-06 | |
35473 | 54 | G/R | 134 | rs768859424 | 0.2596 | None | gnomAD-3.1.2 | 1.97E-05 | |
35473 | 54 | G/R | 134 | rs768859424 | 0.2596 | None | gnomAD-4.0.0 | 1.97174E-05 | |
35474 | 55 | G/A | 135 | None | 0.0920 | None | gnomAD-4.0.0 | 1.59814E-06 | |
35474 | 55 | G/V | 135 | rs747075406 | 0.0920 | None | gnomAD-2.1.1 | 4.06E-06 | |
35474 | 55 | G/V | 135 | rs747075406 | 0.0920 | None | gnomAD-4.0.0 | 3.19628E-06 | |
35475 | 56 | F/C | 136 | None | 0.1338 | None | gnomAD-4.0.0 | 1.20035E-06 | |
35475 | 56 | F/I | 136 | rs377463445 | 0.1338 | None | gnomAD-2.1.1 | 1.54253E-04 | |
35475 | 56 | F/I | 136 | rs377463445 | 0.1338 | None | gnomAD-3.1.2 | 5.26E-05 | |
35475 | 56 | F/I | 136 | rs377463445 | 0.1338 | None | 1000 genomes | 1.99681E-04 | |
35475 | 56 | F/I | 136 | rs377463445 | 0.1338 | None | gnomAD-4.0.0 | 7.8827E-05 | |
35475 | 56 | F/L | 136 | rs1445321656 | 0.1338 | None | gnomAD-2.1.1 | 3.19E-05 | |
35475 | 56 | F/L | 136 | rs1445321656 | 0.1338 | None | gnomAD-3.1.2 | 6.57E-06 | |
35475 | 56 | F/L | 136 | rs1445321656 | 0.1338 | None | gnomAD-4.0.0 | 6.57047E-06 | |
35475 | 56 | F/V | 136 | rs377463445 | 0.1338 | None | gnomAD-2.1.1 | 8.12E-06 | |
35475 | 56 | F/V | 136 | rs377463445 | 0.1338 | None | gnomAD-4.0.0 | 6.16861E-06 | |
35476 | 57 | F/L | 137 | None | 0.3215 | None | gnomAD-4.0.0 | 1.59697E-06 | |
35480 | 61 | H/D | 141 | rs1171675957 | 0.5178 | None | gnomAD-2.1.1 | 4.05E-06 | |
35480 | 61 | H/P | 141 | None | 0.5178 | None | gnomAD-4.0.0 | 1.37032E-06 | |
35480 | 61 | H/R | 141 | rs766337455 | 0.5178 | None | gnomAD-3.1.2 | 3.94E-05 | |
35480 | 61 | H/R | 141 | rs766337455 | 0.5178 | None | gnomAD-4.0.0 | 1.61316E-05 | |
35481 | 62 | K/R | 143 | rs200716018 | 0.6835 | None | gnomAD-2.1.1 | 4.67E-05 | |
35481 | 62 | K/R | 143 | rs200716018 | 0.6835 | None | gnomAD-3.1.2 | 1.05128E-04 | |
35481 | 62 | K/R | 143 | rs200716018 | 0.6835 | None | gnomAD-4.0.0 | 1.60703E-04 | |
35482 | 63 | T/A | 144 | rs1423470146 | 0.1093 | None | gnomAD-2.1.1 | 4.04E-06 | |
35482 | 63 | T/A | 144 | rs1423470146 | 0.1093 | None | gnomAD-4.0.0 | 1.59654E-06 | |
35482 | 63 | T/S | 144 | rs1423470146 | 0.1093 | None | gnomAD-4.0.0 | 3.19307E-06 | |
35484 | 65 | T/I | 146 | rs754163825 | 0.7957 | None | gnomAD-3.1.2 | 6.57E-06 | |
35484 | 65 | T/I | 146 | rs754163825 | 0.7957 | None | gnomAD-4.0.0 | 6.57134E-06 | |
35484 | 65 | T/N | 146 | None | 0.7957 | None | gnomAD-4.0.0 | 5.4854E-06 | |
35484 | 65 | T/P | 146 | None | 0.7957 | None | gnomAD-4.0.0 | 1.59899E-06 | |
35484 | 65 | T/S | 146 | rs754163825 | 0.7957 | None | gnomAD-2.1.1 | 4.07E-06 | |
35484 | 65 | T/S | 146 | rs754163825 | 0.7957 | None | gnomAD-4.0.0 | 3.42838E-06 | |
35485 | 66 | S/T | 148 | None | 0.4226 | None | gnomAD-4.0.0 | 1.20038E-06 | |
35486 | 67 | D/E | 149 | None | 0.1240 | None | gnomAD-4.0.0 | 6.85896E-07 | |
35488 | 69 | G/R | 152 | rs1478637421 | 0.1843 | None | gnomAD-2.1.1 | 4.08E-06 | |
35488 | 69 | G/R | 152 | rs1478637421 | 0.1843 | None | gnomAD-4.0.0 | 1.60066E-06 | |
35489 | 70 | L/H | 153 | rs767087308 | 0.5185 | None | gnomAD-2.1.1 | 4.09E-06 | |
35489 | 70 | L/H | 153 | rs767087308 | 0.5185 | None | gnomAD-3.1.2 | 6.57E-06 | |
35489 | 70 | L/H | 153 | rs767087308 | 0.5185 | None | gnomAD-4.0.0 | 9.01121E-06 | |
35490 | 71 | Y/D | 154 | None | 0.1084 | None | gnomAD-4.0.0 | 2.05798E-06 | |
35490 | 71 | Y/H | 154 | rs199663911 | 0.1084 | None | gnomAD-2.1.1 | 1.62791E-04 | |
35490 | 71 | Y/H | 154 | rs199663911 | 0.1084 | None | gnomAD-3.1.2 | 5.26E-05 | |
35490 | 71 | Y/H | 154 | rs199663911 | 0.1084 | None | gnomAD-4.0.0 | 7.01884E-05 | |
35490 | 71 | Y/N | 154 | rs199663911 | 0.1084 | None | gnomAD-2.1.1 | 4.08E-06 | |
35490 | 71 | Y/N | 154 | rs199663911 | 0.1084 | None | gnomAD-4.0.0 | 6.85993E-07 | |
35491 | 72 | T/I | 155 | rs1461069852 | 0.2251 | None | gnomAD-2.1.1 | 3.19E-05 | |
35491 | 72 | T/I | 155 | rs1461069852 | 0.2251 | None | gnomAD-3.1.2 | 6.57E-06 | |
35491 | 72 | T/I | 155 | rs1461069852 | 0.2251 | None | gnomAD-4.0.0 | 6.57091E-06 | |
35491 | 72 | T/N | 155 | rs1461069852 | 0.2251 | None | gnomAD-4.0.0 | 1.60283E-06 | |
35492 | 73 | C/G | 156 | None | 0.0886 | None | gnomAD-4.0.0 | 6.86708E-07 | |
35492 | 73 | C/R | 156 | None | 0.0886 | None | gnomAD-4.0.0 | 4.12025E-06 | |
35492 | 73 | C/S | 156 | rs1242910392 | 0.0886 | None | gnomAD-2.1.1 | 3.19E-05 | |
35492 | 73 | C/S | 156 | rs1242910392 | 0.0886 | None | gnomAD-4.0.0 | 6.86774E-07 | |
35492 | 73 | C/Y | 156 | None | 0.0886 | None | gnomAD-4.0.0 | 6.86774E-07 | |
35494 | 75 | V/A | 158 | rs988261167 | 0.1209 | None | gnomAD-4.0.0 | 1.61438E-06 | |
35494 | 75 | V/I | 158 | rs1310141973 | 0.1209 | None | gnomAD-2.1.1 | 4.16E-06 | |
35494 | 75 | V/I | 158 | rs1310141973 | 0.1209 | None | gnomAD-4.0.0 | 1.61355E-06 | |
35496 | 77 | N/K | 161 | None | 0.1522 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35497 | 78 | S/A | 162 | rs369870182 | 0.6868 | None | gnomAD-2.1.1 | 7.43E-06 | |
35497 | 78 | S/A | 162 | rs369870182 | 0.6868 | None | gnomAD-3.1.2 | 2.63E-05 | |
35497 | 78 | S/A | 162 | rs369870182 | 0.6868 | None | gnomAD-4.0.0 | 2.61938E-05 | |
35497 | 78 | S/L | 162 | rs1688350064 | 0.6868 | None | gnomAD-4.0.0 | 4.82355E-06 | |
35498 | 79 | A/P | 163 | rs878879036 | 0.6827 | None | gnomAD-4.0.0 | 1.37841E-06 | |
35498 | 79 | A/S | 163 | None | 0.6827 | None | gnomAD-4.0.0 | 6.89206E-07 | |
35499 | 80 | G/E | 164 | rs1211721189 | 0.2977 | None | gnomAD-4.0.0 | 2.40065E-06 | |
35499 | 80 | G/R | 164 | rs779794234 | 0.2977 | None | gnomAD-4.0.0 | 1.62014E-06 | |
35503 | 84 | S/F | 169 | rs1688342681 | 0.2214 | None | gnomAD-3.1.2 | 6.57E-06 | |
35503 | 84 | S/F | 169 | rs1688342681 | 0.2214 | None | gnomAD-4.0.0 | 6.51274E-06 | |
35504 | 85 | S/I | 171 | None | 0.4031 | None | gnomAD-4.0.0 | 6.91209E-07 | |
35504 | 85 | S/N | 171 | None | 0.4031 | None | gnomAD-4.0.0 | 6.91209E-07 | |
35504 | 85 | S/T | 171 | rs575070622 | 0.4031 | None | gnomAD-2.1.1 | 6.75E-05 | |
35504 | 85 | S/T | 171 | rs575070622 | 0.4031 | None | gnomAD-3.1.2 | 7.23E-05 | |
35504 | 85 | S/T | 171 | rs575070622 | 0.4031 | None | 1000 genomes | 1.99681E-04 | |
35504 | 85 | S/T | 171 | rs575070622 | 0.4031 | None | gnomAD-4.0.0 | 3.43962E-05 | |
35505 | 86 | C/Y | 172 | rs2154132356 | 0.0960 | None | gnomAD-4.0.0 | 1.63721E-06 | |
35506 | 87 | K/R | 173 | None | 0.6643 | None | gnomAD-4.0.0 | 6.93101E-07 | |
35506 | 87 | K/T | 173 | rs1688340193 | 0.6643 | None | gnomAD-4.0.0 | 6.23791E-06 | |
35507 | 88 | L/F | 174 | None | 0.1068 | None | gnomAD-4.0.0 | 1.64877E-06 | |
35508 | 89 | T/S | 175 | None | 0.4893 | None | gnomAD-4.0.0 | 6.94625E-07 | |
35509 | 90 | I/T | 177 | rs1447572736 | 0.2027 | None | gnomAD-2.1.1 | 4.43E-06 | |
35509 | 90 | I/T | 177 | rs1447572736 | 0.2027 | None | gnomAD-4.0.0 | 7.65311E-06 |