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A | C | E | P | P | R | N | V | R | I | T | D | I | S | K | N | S | V | S | L | S | W | Q | Q | P | A | F | D | G | G | S | K | I | T | G | Y | I | V | E | R | R | D | L | P | D | G | R | W | T | K | A | S | F | T | N | V | T | E | T | Q | F | I | I | S | G | L | T | Q | N | S | Q | Y | E | F | R | V | F | A | R | N | A | V | G | S | I | S | N | P | S | E | V | V | G | P | I | T | C | I | D | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
29335 | 1 | A/P | 1 | None | 0.7684 | None | gnomAD-4.0.0 | 2.05262E-06 | |
29336 | 2 | C/G | 2 | rs1701872687 | 0.2009 | None | gnomAD-4.0.0 | 1.59127E-06 | |
29336 | 2 | C/S | 2 | rs1328042296 | 0.2009 | None | gnomAD-3.1.2 | 6.57E-06 | |
29336 | 2 | C/S | 2 | rs1328042296 | 0.2009 | None | gnomAD-4.0.0 | 6.56625E-06 | |
29336 | 2 | C/Y | 2 | rs1328042296 | 0.2009 | None | gnomAD-2.1.1 | 3.18E-05 | |
29336 | 2 | C/Y | 2 | rs1328042296 | 0.2009 | None | gnomAD-3.1.2 | 6.57E-06 | |
29336 | 2 | C/Y | 2 | rs1328042296 | 0.2009 | None | gnomAD-4.0.0 | 3.84326E-06 | |
29338 | 4 | P/H | 4 | rs1274987792 | 0.2537 | None | gnomAD-2.1.1 | 4.05E-06 | |
29338 | 4 | P/H | 4 | rs1274987792 | 0.2537 | None | gnomAD-4.0.0 | 1.59237E-06 | |
29338 | 4 | P/S | 4 | rs774162189 | 0.2537 | None | gnomAD-2.1.1 | 8.5E-05 | |
29338 | 4 | P/S | 4 | rs774162189 | 0.2537 | None | gnomAD-3.1.2 | 1.97E-05 | |
29338 | 4 | P/S | 4 | rs774162189 | 0.2537 | None | gnomAD-4.0.0 | 3.22324E-05 | |
29338 | 4 | P/T | 4 | rs774162189 | 0.2537 | None | gnomAD-4.0.0 | 6.84413E-07 | |
29339 | 5 | P/A | 5 | rs1701796563 | 0.1462 | None | gnomAD-4.0.0 | 1.36884E-06 | |
29339 | 5 | P/L | 5 | None | 0.1462 | None | gnomAD-4.0.0 | 3.42183E-06 | |
29343 | 9 | R/C | 11 | None | 0.4133 | None | gnomAD-4.0.0 | 4.79039E-06 | |
29343 | 9 | R/H | 11 | rs73036368 | 0.4133 | None | gnomAD-2.1.1 | 1.50565E-04 | |
29343 | 9 | R/H | 11 | rs73036368 | 0.4133 | None | gnomAD-3.1.2 | 4.53422E-04 | |
29343 | 9 | R/H | 11 | rs73036368 | 0.4133 | None | 1000 genomes | 9.98403E-04 | |
29343 | 9 | R/H | 11 | rs73036368 | 0.4133 | None | gnomAD-4.0.0 | 1.81584E-04 | |
29343 | 9 | R/P | 11 | None | 0.4133 | None | gnomAD-4.0.0 | 6.15898E-06 | |
29344 | 10 | I/N | 12 | rs762659029 | 0.2646 | None | gnomAD-2.1.1 | 1.21E-05 | |
29344 | 10 | I/N | 12 | rs762659029 | 0.2646 | None | gnomAD-4.0.0 | 7.52725E-06 | |
29344 | 10 | I/T | 12 | rs762659029 | 0.2646 | None | gnomAD-2.1.1 | 6.37E-05 | |
29344 | 10 | I/T | 12 | rs762659029 | 0.2646 | None | gnomAD-3.1.2 | 1.31E-05 | |
29344 | 10 | I/T | 12 | rs762659029 | 0.2646 | None | gnomAD-4.0.0 | 1.85924E-06 | |
29345 | 11 | T/A | 13 | rs878854427 | 0.4937 | None | gnomAD-4.0.0 | 1.0949E-05 | |
29345 | 11 | T/I | 13 | rs1701792162 | 0.4937 | None | gnomAD-3.1.2 | 6.57E-06 | |
29345 | 11 | T/I | 13 | rs1701792162 | 0.4937 | None | gnomAD-4.0.0 | 6.5697E-06 | |
29346 | 12 | D/A | 14 | None | 0.5937 | None | gnomAD-2.1.1 | 4.04E-06 | |
29346 | 12 | D/A | 14 | None | 0.5937 | None | gnomAD-4.0.0 | 2.73718E-06 | |
29346 | 12 | D/G | 14 | rs374741129 | 0.5937 | None | gnomAD-3.1.2 | 6.57E-06 | |
29346 | 12 | D/G | 14 | rs374741129 | 0.5937 | None | gnomAD-4.0.0 | 6.56953E-06 | |
29346 | 12 | D/V | 14 | rs374741129 | 0.5937 | None | gnomAD-2.1.1 | 4.04E-05 | |
29346 | 12 | D/V | 14 | rs374741129 | 0.5937 | None | gnomAD-3.1.2 | 1.31E-05 | |
29346 | 12 | D/V | 14 | rs374741129 | 0.5937 | None | gnomAD-4.0.0 | 2.41699E-05 | |
29347 | 13 | I/T | 15 | rs1200964659 | 0.3739 | None | gnomAD-2.1.1 | 3.18E-05 | |
29347 | 13 | I/T | 15 | rs1200964659 | 0.3739 | None | gnomAD-3.1.2 | 6.57E-06 | |
29347 | 13 | I/T | 15 | rs1200964659 | 0.3739 | None | gnomAD-4.0.0 | 2.47899E-06 | |
29349 | 15 | K/N | 17 | rs748102856 | 0.5588 | None | gnomAD-2.1.1 | 4.04E-06 | |
29349 | 15 | K/N | 17 | rs748102856 | 0.5588 | None | gnomAD-4.0.0 | 1.36857E-06 | |
29350 | 16 | N/T | 18 | rs1218350204 | 0.5097 | None | gnomAD-3.1.2 | 6.57E-06 | |
29350 | 16 | N/T | 18 | rs1218350204 | 0.5097 | None | gnomAD-4.0.0 | 6.57298E-06 | |
29352 | 18 | V/I | 20 | None | 0.1384 | None | gnomAD-4.0.0 | 6.84282E-07 | |
29352 | 18 | V/L | 20 | None | 0.1384 | None | gnomAD-4.0.0 | 6.84282E-07 | |
29353 | 19 | S/R | 21 | rs1311421658 | 0.1714 | None | gnomAD-2.1.1 | 1.07E-05 | |
29353 | 19 | S/R | 21 | rs1311421658 | 0.1714 | None | gnomAD-3.1.2 | 1.31E-05 | |
29353 | 19 | S/R | 21 | rs1311421658 | 0.1714 | None | gnomAD-4.0.0 | 9.29609E-06 | |
29354 | 20 | L/V | 22 | None | 0.1347 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29355 | 21 | S/P | 23 | rs768443497 | 0.1985 | None | gnomAD-2.1.1 | 4.03E-06 | |
29355 | 21 | S/P | 23 | rs768443497 | 0.1985 | None | gnomAD-3.1.2 | 6.57E-06 | |
29355 | 21 | S/P | 23 | rs768443497 | 0.1985 | None | gnomAD-4.0.0 | 6.57039E-06 | |
29360 | 26 | A/G | 28 | None | 0.4715 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29361 | 27 | F/L | 29 | rs746746013 | 0.3980 | None | gnomAD-4.0.0 | 6.84284E-07 | |
29362 | 28 | D/G | 30 | rs1414215784 | 0.2403 | None | gnomAD-2.1.1 | 7.15E-06 | |
29362 | 28 | D/G | 30 | rs1414215784 | 0.2403 | None | gnomAD-3.1.2 | 1.97E-05 | |
29362 | 28 | D/G | 30 | rs1414215784 | 0.2403 | None | gnomAD-4.0.0 | 8.67641E-06 | |
29362 | 28 | D/N | 30 | rs546300309 | 0.2403 | None | gnomAD-2.1.1 | 4.03E-06 | |
29362 | 28 | D/N | 30 | rs546300309 | 0.2403 | None | gnomAD-3.1.2 | 3.29E-05 | |
29362 | 28 | D/N | 30 | rs546300309 | 0.2403 | None | gnomAD-4.0.0 | 1.85918E-05 | |
29362 | 28 | D/Y | 30 | rs546300309 | 0.2403 | None | gnomAD-2.1.1 | 4.03E-06 | |
29362 | 28 | D/Y | 30 | rs546300309 | 0.2403 | None | gnomAD-4.0.0 | 6.84296E-07 | |
29363 | 29 | G/A | 31 | None | 0.2082 | None | gnomAD-4.0.0 | 1.59163E-06 | |
29363 | 29 | G/E | 31 | rs1256602941 | 0.2082 | None | gnomAD-2.1.1 | 4.03E-06 | |
29363 | 29 | G/E | 31 | rs1256602941 | 0.2082 | None | gnomAD-4.0.0 | 1.59163E-06 | |
29364 | 30 | G/S | 32 | rs183013408 | 0.5324 | None | gnomAD-2.1.1 | 3.86092E-04 | |
29364 | 30 | G/S | 32 | rs183013408 | 0.5324 | None | gnomAD-3.1.2 | 3.41683E-04 | |
29364 | 30 | G/S | 32 | rs183013408 | 0.5324 | None | 1000 genomes | 5.99042E-04 | |
29364 | 30 | G/S | 32 | rs183013408 | 0.5324 | None | gnomAD-4.0.0 | 5.49039E-04 | |
29365 | 31 | S/G | 33 | rs1207057627 | 0.2005 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29366 | 32 | K/N | 34 | None | 0.7559 | None | gnomAD-4.0.0 | 1.3685E-06 | |
29367 | 33 | I/T | 35 | rs778882176 | 0.1552 | None | gnomAD-2.1.1 | 4.02E-06 | |
29367 | 33 | I/T | 35 | rs778882176 | 0.1552 | None | gnomAD-3.1.2 | 6.57E-06 | |
29367 | 33 | I/T | 35 | rs778882176 | 0.1552 | None | gnomAD-4.0.0 | 5.12464E-06 | |
29368 | 34 | T/I | 36 | rs757375731 | 0.3573 | None | gnomAD-2.1.1 | 2.01E-05 | |
29368 | 34 | T/I | 36 | rs757375731 | 0.3573 | None | gnomAD-4.0.0 | 7.52672E-06 | |
29369 | 35 | G/C | 37 | None | 0.1037 | None | gnomAD-4.0.0 | 1.59141E-06 | |
29369 | 35 | G/D | 37 | rs55898359 | 0.1037 | None | gnomAD-2.1.1 | 2.41E-05 | |
29369 | 35 | G/D | 37 | rs55898359 | 0.1037 | None | gnomAD-4.0.0 | 3.42118E-06 | |
29369 | 35 | G/V | 37 | rs55898359 | 0.1037 | None | gnomAD-2.1.1 | 1.21479E-04 | |
29369 | 35 | G/V | 37 | rs55898359 | 0.1037 | None | gnomAD-3.1.2 | 6.57E-05 | |
29369 | 35 | G/V | 37 | rs55898359 | 0.1037 | None | 1000 genomes | 1.99681E-04 | |
29369 | 35 | G/V | 37 | rs55898359 | 0.1037 | None | gnomAD-4.0.0 | 3.0984E-05 | |
29370 | 36 | Y/C | 38 | rs756679529 | 0.1163 | None | gnomAD-2.1.1 | 4.43E-05 | |
29370 | 36 | Y/C | 38 | rs756679529 | 0.1163 | None | gnomAD-3.1.2 | 1.31E-05 | |
29370 | 36 | Y/C | 38 | rs756679529 | 0.1163 | None | gnomAD-4.0.0 | 8.67571E-06 | |
29370 | 36 | Y/H | 38 | None | 0.1163 | None | gnomAD-4.0.0 | 3.60097E-06 | |
29371 | 37 | I/F | 39 | None | 0.3886 | None | gnomAD-4.0.0 | 1.59143E-06 | |
29371 | 37 | I/N | 39 | rs767890385 | 0.3886 | None | gnomAD-2.1.1 | 4.02E-06 | |
29371 | 37 | I/N | 39 | rs767890385 | 0.3886 | None | gnomAD-3.1.2 | 6.57E-06 | |
29371 | 37 | I/N | 39 | rs767890385 | 0.3886 | None | gnomAD-4.0.0 | 1.85912E-06 | |
29371 | 37 | I/T | 39 | rs767890385 | 0.3886 | None | gnomAD-2.1.1 | 4.02E-05 | |
29371 | 37 | I/T | 39 | rs767890385 | 0.3886 | None | gnomAD-3.1.2 | 1.31E-05 | |
29371 | 37 | I/T | 39 | rs767890385 | 0.3886 | None | gnomAD-4.0.0 | 2.5408E-05 | |
29371 | 37 | I/V | 39 | rs1229603276 | 0.3886 | None | gnomAD-2.1.1 | 4.02E-06 | |
29371 | 37 | I/V | 39 | rs1229603276 | 0.3886 | None | gnomAD-4.0.0 | 3.18286E-06 | |
29372 | 38 | V/A | 40 | None | 0.0999 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29372 | 38 | V/L | 40 | None | 0.0999 | None | gnomAD-4.0.0 | 2.40064E-06 | |
29373 | 39 | E/K | 41 | rs762557803 | 0.1460 | None | gnomAD-2.1.1 | 6.84E-05 | |
29373 | 39 | E/K | 41 | rs762557803 | 0.1460 | None | gnomAD-4.0.0 | 2.70543E-05 | |
29374 | 40 | R/K | 42 | rs878969198 | 0.2801 | None | gnomAD-2.1.1 | 3.19E-05 | |
29374 | 40 | R/K | 42 | rs878969198 | 0.2801 | None | gnomAD-3.1.2 | 1.97E-05 | |
29374 | 40 | R/K | 42 | rs878969198 | 0.2801 | None | gnomAD-4.0.0 | 3.71818E-06 | |
29374 | 40 | R/T | 42 | None | 0.2801 | None | gnomAD-4.0.0 | 1.36846E-06 | |
29375 | 41 | R/C | 43 | rs368439674 | 0.2822 | None | gnomAD-2.1.1 | 8.05E-05 | |
29375 | 41 | R/C | 43 | rs368439674 | 0.2822 | None | gnomAD-3.1.2 | 9.86E-05 | |
29375 | 41 | R/C | 43 | rs368439674 | 0.2822 | None | gnomAD-4.0.0 | 3.16057E-05 | |
29375 | 41 | R/H | 43 | rs761246441 | 0.2822 | None | gnomAD-2.1.1 | 2.41E-05 | |
29375 | 41 | R/H | 43 | rs761246441 | 0.2822 | None | gnomAD-3.1.2 | 1.31E-05 | |
29375 | 41 | R/H | 43 | rs761246441 | 0.2822 | None | gnomAD-4.0.0 | 1.11551E-05 | |
29375 | 41 | R/L | 43 | rs761246441 | 0.2822 | None | gnomAD-3.1.2 | 6.57E-06 | |
29375 | 41 | R/L | 43 | rs761246441 | 0.2822 | None | gnomAD-4.0.0 | 6.57289E-06 | |
29375 | 41 | R/S | 43 | None | 0.2822 | None | gnomAD-4.0.0 | 6.84235E-07 | |
29376 | 42 | D/E | 44 | rs1294808969 | 0.3937 | None | gnomAD-4.0.0 | 1.36846E-06 | |
29376 | 42 | D/V | 44 | None | 0.3937 | None | gnomAD-4.0.0 | 1.59138E-06 | |
29377 | 43 | L/F | 50 | rs908918470 | 0.3301 | None | gnomAD-2.1.1 | 4.02E-06 | |
29377 | 43 | L/F | 50 | rs908918470 | 0.3301 | None | gnomAD-3.1.2 | 6.57E-06 | |
29377 | 43 | L/F | 50 | rs908918470 | 0.3301 | None | gnomAD-4.0.0 | 3.84335E-06 | |
29378 | 44 | P/A | 54 | rs776560772 | 0.6386 | None | gnomAD-2.1.1 | 4.02E-06 | |
29378 | 44 | P/S | 54 | None | 0.6386 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29379 | 45 | D/N | 60 | rs1285049057 | 0.9378 | None | gnomAD-2.1.1 | 6.37E-05 | |
29379 | 45 | D/N | 60 | rs1285049057 | 0.9378 | None | gnomAD-3.1.2 | 1.97E-05 | |
29379 | 45 | D/N | 60 | rs1285049057 | 0.9378 | None | gnomAD-4.0.0 | 7.68677E-06 | |
29380 | 46 | G/D | 63 | rs1701762557 | 0.3104 | None | gnomAD-4.0.0 | 1.27307E-05 | |
29382 | 48 | W/C | 65 | rs937554101 | 0.2876 | None | gnomAD-3.1.2 | 6.57E-06 | |
29382 | 48 | W/C | 65 | rs937554101 | 0.2876 | None | gnomAD-4.0.0 | 6.19719E-06 | |
29383 | 49 | T/I | 66 | rs2154155238 | 0.3292 | None | gnomAD-3.1.2 | 6.57E-06 | |
29383 | 49 | T/S | 66 | rs2154155238 | 0.3292 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29385 | 51 | A/T | 68 | None | 0.1425 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29386 | 52 | S/C | 69 | rs727505102 | 0.1214 | None | gnomAD-2.1.1 | 8.85E-05 | |
29386 | 52 | S/C | 69 | rs727505102 | 0.1214 | None | gnomAD-3.1.2 | 1.31E-05 | |
29386 | 52 | S/C | 69 | rs727505102 | 0.1214 | None | gnomAD-4.0.0 | 1.61121E-05 | |
29386 | 52 | S/G | 69 | None | 0.1214 | None | gnomAD-4.0.0 | 6.84222E-07 | |
29388 | 54 | T/I | 72 | rs775200192 | 0.7605 | None | gnomAD-2.1.1 | 4.02E-06 | |
29388 | 54 | T/I | 72 | rs775200192 | 0.7605 | None | gnomAD-3.1.2 | 1.31E-05 | |
29388 | 54 | T/I | 72 | rs775200192 | 0.7605 | None | gnomAD-4.0.0 | 3.84337E-06 | |
29388 | 54 | T/N | 72 | rs775200192 | 0.7605 | None | gnomAD-2.1.1 | 8.04E-06 | |
29388 | 54 | T/N | 72 | rs775200192 | 0.7605 | None | gnomAD-4.0.0 | 3.18261E-06 | |
29389 | 55 | N/D | 75 | rs1343788854 | 0.4886 | None | gnomAD-2.1.1 | 3.18E-05 | |
29389 | 55 | N/D | 75 | rs1343788854 | 0.4886 | None | gnomAD-3.1.2 | 6.57E-06 | |
29389 | 55 | N/D | 75 | rs1343788854 | 0.4886 | None | gnomAD-4.0.0 | 6.57142E-06 | |
29389 | 55 | N/S | 75 | rs1016296780 | 0.4886 | None | gnomAD-2.1.1 | 4.02E-06 | |
29389 | 55 | N/S | 75 | rs1016296780 | 0.4886 | None | gnomAD-4.0.0 | 7.52639E-06 | |
29390 | 56 | V/I | 77 | rs1701757178 | 0.1175 | None | gnomAD-3.1.2 | 6.57E-06 | |
29390 | 56 | V/I | 77 | rs1701757178 | 0.1175 | None | gnomAD-4.0.0 | 6.57203E-06 | |
29390 | 56 | V/L | 77 | None | 0.1175 | None | gnomAD-4.0.0 | 1.59132E-06 | |
29391 | 57 | T/S | 83 | rs771850921 | 0.6607 | None | gnomAD-2.1.1 | 8.04E-06 | |
29391 | 57 | T/S | 83 | rs771850921 | 0.6607 | None | gnomAD-4.0.0 | 1.36844E-06 | |
29392 | 58 | E/K | 88 | rs1553551691 | 0.5627 | None | gnomAD-4.0.0 | 3.18261E-06 | |
29393 | 59 | T/I | 89 | rs746109021 | 0.2536 | None | gnomAD-2.1.1 | 4.02E-06 | |
29393 | 59 | T/I | 89 | rs746109021 | 0.2536 | None | gnomAD-4.0.0 | 1.59131E-06 | |
29393 | 59 | T/S | 89 | rs746109021 | 0.2536 | None | gnomAD-2.1.1 | 4.02E-06 | |
29393 | 59 | T/S | 89 | rs746109021 | 0.2536 | None | gnomAD-4.0.0 | 1.59131E-06 | |
29395 | 61 | F/L | 91 | rs55940667 | 0.2480 | None | gnomAD-2.1.1 | 1.39264E-04 | |
29395 | 61 | F/L | 91 | rs55940667 | 0.2480 | None | gnomAD-3.1.2 | 9.86E-05 | |
29395 | 61 | F/L | 91 | rs55940667 | 0.2480 | None | 1000 genomes | 3.99361E-04 | |
29395 | 61 | F/L | 91 | rs55940667 | 0.2480 | None | gnomAD-4.0.0 | 3.65591E-05 | |
29396 | 62 | I/T | 92 | rs9808377 | 0.6284 | None | gnomAD-2.1.1 | 3.50522E-01 | |
29396 | 62 | I/T | 92 | rs9808377 | 0.6284 | None | gnomAD-3.1.2 | 3.60337E-01 | |
29396 | 62 | I/T | 92 | rs9808377 | 0.6284 | None | 1000 genomes | 5.07188E-01 | |
29396 | 62 | I/T | 92 | rs9808377 | 0.6284 | None | gnomAD-4.0.0 | 2.75309E-01 | |
29397 | 63 | I/T | 93 | rs1475393277 | 0.1187 | None | gnomAD-3.1.2 | 6.57E-06 | |
29397 | 63 | I/T | 93 | rs1475393277 | 0.1187 | None | gnomAD-4.0.0 | 6.57194E-06 | |
29397 | 63 | I/V | 93 | rs1701748367 | 0.1187 | None | gnomAD-4.0.0 | 1.36853E-06 | |
29398 | 64 | S/A | 94 | None | 0.6589 | None | gnomAD-4.0.0 | 6.8421E-07 | |
29399 | 65 | G/A | 96 | rs1701744078 | 0.5445 | None | gnomAD-3.1.2 | 6.57E-06 | |
29399 | 65 | G/A | 96 | rs1701744078 | 0.5445 | None | gnomAD-4.0.0 | 2.56222E-06 | |
29400 | 66 | L/F | 97 | None | 0.1394 | None | gnomAD-4.0.0 | 6.84218E-07 | |
29401 | 67 | T/I | 98 | None | 0.5247 | None | gnomAD-4.0.0 | 6.84215E-07 | |
29401 | 67 | T/N | 98 | None | 0.5247 | None | gnomAD-4.0.0 | 6.84215E-07 | |
29402 | 68 | Q/E | 99 | None | 0.4455 | None | gnomAD-4.0.0 | 1.5913E-06 | |
29404 | 70 | S/F | 102 | rs1701741272 | 0.2273 | None | gnomAD-3.1.2 | 6.57E-06 | |
29404 | 70 | S/F | 102 | rs1701741272 | 0.2273 | None | gnomAD-4.0.0 | 6.57186E-06 | |
29404 | 70 | S/Y | 102 | None | 0.2273 | None | gnomAD-4.0.0 | 1.36843E-06 | |
29405 | 71 | Q/L | 103 | rs777999009 | 0.4138 | None | gnomAD-4.0.0 | 6.84214E-07 | |
29405 | 71 | Q/R | 103 | rs777999009 | 0.4138 | None | gnomAD-2.1.1 | 4.83E-05 | |
29405 | 71 | Q/R | 103 | rs777999009 | 0.4138 | None | gnomAD-4.0.0 | 2.05264E-05 | |
29406 | 72 | Y/N | 104 | None | 0.1503 | None | gnomAD-4.0.0 | 6.84211E-07 | |
29408 | 74 | F/I | 106 | None | 0.1246 | None | gnomAD-4.0.0 | 1.59127E-06 | |
29409 | 75 | R/C | 107 | rs756724511 | 0.1607 | None | gnomAD-2.1.1 | 1.61E-05 | |
29409 | 75 | R/C | 107 | rs756724511 | 0.1607 | None | gnomAD-3.1.2 | 2.63E-05 | |
29409 | 75 | R/C | 107 | rs756724511 | 0.1607 | None | gnomAD-4.0.0 | 2.29288E-05 | |
29409 | 75 | R/H | 107 | rs753223608 | 0.1607 | None | gnomAD-2.1.1 | 2.86E-05 | |
29409 | 75 | R/H | 107 | rs753223608 | 0.1607 | None | gnomAD-3.1.2 | 1.97E-05 | |
29409 | 75 | R/H | 107 | rs753223608 | 0.1607 | None | gnomAD-4.0.0 | 1.61121E-05 | |
29410 | 76 | V/A | 108 | None | 0.0887 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29411 | 77 | F/L | 109 | rs1701736067 | 0.2165 | None | gnomAD-3.1.2 | 6.57E-06 | |
29411 | 77 | F/L | 109 | rs1701736067 | 0.2165 | None | gnomAD-4.0.0 | 6.57056E-06 | |
29411 | 77 | F/Y | 109 | rs1433228812 | 0.2165 | None | gnomAD-2.1.1 | 4.02E-06 | |
29411 | 77 | F/Y | 109 | rs1433228812 | 0.2165 | None | gnomAD-4.0.0 | 1.59127E-06 | |
29412 | 78 | A/V | 110 | None | 0.1125 | None | gnomAD-4.0.0 | 6.84221E-07 | |
29416 | 82 | V/A | 114 | None | 0.7814 | None | gnomAD-4.0.0 | 1.59134E-06 | |
29416 | 82 | V/F | 114 | rs755325663 | 0.7814 | None | gnomAD-2.1.1 | 2.5E-05 | |
29416 | 82 | V/F | 114 | rs755325663 | 0.7814 | None | gnomAD-3.1.2 | 7.23E-05 | |
29416 | 82 | V/F | 114 | rs755325663 | 0.7814 | None | gnomAD-4.0.0 | 1.36334E-05 | |
29416 | 82 | V/I | 114 | None | 0.7814 | None | gnomAD-4.0.0 | 6.84223E-07 | |
29417 | 83 | G/C | 115 | None | 0.3795 | None | gnomAD-4.0.0 | 6.84226E-07 | |
29417 | 83 | G/R | 115 | rs750047438 | 0.3795 | None | gnomAD-2.1.1 | 4.02E-06 | |
29417 | 83 | G/R | 115 | rs750047438 | 0.3795 | None | gnomAD-4.0.0 | 6.84226E-07 | |
29418 | 84 | S/C | 116 | rs553614377 | 0.2965 | None | gnomAD-2.1.1 | 4.02E-06 | |
29418 | 84 | S/Y | 116 | rs553614377 | 0.2965 | None | gnomAD-2.1.1 | 4.02E-06 | |
29418 | 84 | S/Y | 116 | rs553614377 | 0.2965 | None | gnomAD-3.1.2 | 1.97E-05 | |
29418 | 84 | S/Y | 116 | rs553614377 | 0.2965 | None | 1000 genomes | 1.99681E-04 | |
29418 | 84 | S/Y | 116 | rs553614377 | 0.2965 | None | gnomAD-4.0.0 | 5.12374E-06 | |
29419 | 85 | I/S | 117 | rs1406975324 | 0.5004 | None | gnomAD-2.1.1 | 4.02E-06 | |
29419 | 85 | I/S | 117 | rs1406975324 | 0.5004 | None | gnomAD-4.0.0 | 1.59131E-06 | |
29419 | 85 | I/V | 117 | rs1273849394 | 0.5004 | None | gnomAD-4.0.0 | 1.59131E-06 | |
29420 | 86 | S/N | 118 | rs1415733680 | 0.1329 | None | gnomAD-3.1.2 | 6.57E-06 | |
29420 | 86 | S/N | 118 | rs1415733680 | 0.1329 | None | gnomAD-4.0.0 | 3.84324E-06 | |
29420 | 86 | S/R | 118 | rs1312502975 | 0.1329 | None | gnomAD-3.1.2 | 6.57E-06 | |
29420 | 86 | S/R | 118 | rs1312502975 | 0.1329 | None | gnomAD-4.0.0 | 3.84325E-06 | |
29421 | 87 | N/H | 119 | None | 0.7796 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29422 | 88 | P/A | 120 | rs1414305688 | 0.3469 | None | gnomAD-2.1.1 | 8.05E-06 | |
29422 | 88 | P/A | 120 | rs1414305688 | 0.3469 | None | gnomAD-4.0.0 | 3.18278E-06 | |
29422 | 88 | P/L | 120 | rs753410959 | 0.3469 | None | gnomAD-2.1.1 | 4.03E-06 | |
29422 | 88 | P/L | 120 | rs753410959 | 0.3469 | None | gnomAD-3.1.2 | 1.31E-05 | |
29422 | 88 | P/L | 120 | rs753410959 | 0.3469 | None | gnomAD-4.0.0 | 8.67591E-06 | |
29423 | 89 | S/P | 121 | rs1701723735 | 0.1894 | None | gnomAD-3.1.2 | 6.57E-06 | |
29423 | 89 | S/P | 121 | rs1701723735 | 0.1894 | None | gnomAD-4.0.0 | 6.56953E-06 | |
29423 | 89 | S/T | 121 | None | 0.1894 | None | gnomAD-4.0.0 | 1.59136E-06 | |
29424 | 90 | E/D | 122 | rs9808036 | 0.9822 | None | gnomAD-4.0.0 | 3.42122E-06 | |
29424 | 90 | E/K | 122 | None | 0.9822 | None | gnomAD-4.0.0 | 3.18278E-06 | |
29424 | 90 | E/Q | 122 | rs763574979 | 0.9822 | None | gnomAD-2.1.1 | 4.02E-06 | |
29424 | 90 | E/Q | 122 | rs763574979 | 0.9822 | None | gnomAD-4.0.0 | 1.59139E-06 | |
29425 | 91 | V/D | 123 | None | 0.3715 | None | gnomAD-4.0.0 | 3.18286E-06 | |
29425 | 91 | V/F | 123 | rs1701721466 | 0.3715 | None | gnomAD-4.0.0 | 2.73695E-06 | |
29426 | 92 | V/A | 124 | None | 0.2453 | None | gnomAD-4.0.0 | 5.474E-06 | |
29426 | 92 | V/G | 124 | None | 0.2453 | None | gnomAD-4.0.0 | 6.8425E-07 | |
29427 | 93 | G/A | 125 | rs1188741659 | 0.4099 | None | gnomAD-2.1.1 | 4.03E-06 | |
29427 | 93 | G/A | 125 | rs1188741659 | 0.4099 | None | gnomAD-4.0.0 | 6.84265E-07 | |
29427 | 93 | G/E | 125 | rs1188741659 | 0.4099 | None | gnomAD-4.0.0 | 6.84265E-06 | |
29428 | 94 | P/S | 126 | None | 0.6123 | None | gnomAD-4.0.0 | 3.1833E-06 | |
29429 | 95 | I/V | 127 | rs373738818 | 0.2838 | None | gnomAD-2.1.1 | 5.72E-05 | |
29429 | 95 | I/V | 127 | rs373738818 | 0.2838 | None | gnomAD-3.1.2 | 8.54E-05 | |
29429 | 95 | I/V | 127 | rs373738818 | 0.2838 | None | gnomAD-4.0.0 | 1.23326E-04 | |
29430 | 96 | T/I | 129 | rs1224484023 | 0.4047 | None | gnomAD-2.1.1 | 4.03E-06 | |
29430 | 96 | T/P | 129 | None | 0.4047 | None | gnomAD-4.0.0 | 2.40064E-06 | |
29431 | 97 | C/R | 130 | rs1701716122 | 0.1089 | None | gnomAD-4.0.0 | 3.42159E-06 | |
29432 | 98 | I/V | 131 | rs775025065 | 0.6609 | None | gnomAD-2.1.1 | 4.03E-06 | |
29432 | 98 | I/V | 131 | rs775025065 | 0.6609 | None | gnomAD-3.1.2 | 6.57E-06 | |
29432 | 98 | I/V | 131 | rs775025065 | 0.6609 | None | gnomAD-4.0.0 | 5.57805E-05 | |
29433 | 99 | D/H | 132 | rs189202799 | 0.9457 | None | gnomAD-2.1.1 | 4.03E-06 | |
29433 | 99 | D/H | 132 | rs189202799 | 0.9457 | None | gnomAD-4.0.0 | 6.84408E-07 | |
29433 | 99 | D/N | 132 | rs189202799 | 0.9457 | None | gnomAD-2.1.1 | 4.50763E-04 | |
29433 | 99 | D/N | 132 | rs189202799 | 0.9457 | None | gnomAD-3.1.2 | 1.39347E-03 | |
29433 | 99 | D/N | 132 | rs189202799 | 0.9457 | None | 1000 genomes | 1.19808E-03 | |
29433 | 99 | D/N | 132 | rs189202799 | 0.9457 | None | gnomAD-4.0.0 | 2.70861E-04 |