10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | F | F | T | K | P | L | R | N | V | D | S | V | V | N | G | T | C | R | L | D | C | K | I | A | G | S | L | P | M | R | V | S | W | F | K | D | G | K | E | I | A | A | S | D | R | Y | R | I | A | F | V | E | G | T | A | S | L | E | I | I | R | V | D | M | N | D | A | G | N | F | T | C | R | A | T | N | S | V | G | S | K | D | S | S | G | A | L | I | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
5357 | 1 | P/S | 1 | rs1467703602 | 0.1966 | None | gnomAD-2.1.1 | 4.26E-06 | |
5358 | 2 | F/L | 2 | None | 0.4330 | None | gnomAD-4.0.0 | 1.38517E-06 | |
5360 | 4 | T/A | 4 | rs749081117 | 0.4169 | None | gnomAD-2.1.1 | 3.35E-05 | |
5360 | 4 | T/A | 4 | rs749081117 | 0.4169 | None | gnomAD-3.1.2 | 6.57E-06 | |
5360 | 4 | T/A | 4 | rs749081117 | 0.4169 | None | gnomAD-4.0.0 | 5.00678E-06 | |
5362 | 6 | P/L | 7 | rs2080839872 | 0.4485 | None | gnomAD-4.0.0 | 1.62566E-06 | |
5363 | 7 | L/S | 8 | rs1272893628 | 0.1556 | None | gnomAD-2.1.1 | 4.13E-06 | |
5363 | 7 | L/S | 8 | rs1272893628 | 0.1556 | None | gnomAD-4.0.0 | 4.85164E-06 | |
5364 | 8 | R/C | 9 | rs886044310 | 0.7530 | None | gnomAD-3.1.2 | 1.31E-05 | |
5364 | 8 | R/C | 9 | rs886044310 | 0.7530 | None | gnomAD-4.0.0 | 2.05879E-05 | |
5364 | 8 | R/H | 9 | rs200941841 | 0.7530 | None | gnomAD-2.1.1 | 1.46628E-04 | |
5364 | 8 | R/H | 9 | rs200941841 | 0.7530 | None | gnomAD-3.1.2 | 1.24896E-04 | |
5364 | 8 | R/H | 9 | rs200941841 | 0.7530 | None | gnomAD-4.0.0 | 7.17317E-05 | |
5364 | 8 | R/L | 9 | None | 0.7530 | None | gnomAD-4.0.0 | 1.37841E-06 | |
5364 | 8 | R/S | 9 | None | 0.7530 | None | gnomAD-4.0.0 | 6.893E-07 | |
5365 | 9 | N/D | 11 | None | 0.6277 | None | gnomAD-4.0.0 | 1.37739E-06 | |
5365 | 9 | N/I | 11 | rs2080837550 | 0.6277 | None | gnomAD-4.0.0 | 1.60988E-06 | |
5365 | 9 | N/K | 11 | rs72648935 | 0.6277 | None | gnomAD-2.1.1 | 4.12E-06 | |
5365 | 9 | N/K | 11 | rs72648935 | 0.6277 | None | gnomAD-4.0.0 | 6.87793E-07 | |
5365 | 9 | N/Y | 11 | rs878854288 | 0.6277 | None | gnomAD-2.1.1 | 4.13E-06 | |
5366 | 10 | V/G | 13 | rs754980942 | 0.2932 | None | gnomAD-2.1.1 | 4.11E-06 | |
5366 | 10 | V/G | 13 | rs754980942 | 0.2932 | None | gnomAD-3.1.2 | 6.58E-06 | |
5366 | 10 | V/G | 13 | rs754980942 | 0.2932 | None | gnomAD-4.0.0 | 2.49006E-06 | |
5366 | 10 | V/M | 13 | rs372176136 | 0.2932 | None | gnomAD-2.1.1 | 4.11E-06 | |
5366 | 10 | V/M | 13 | rs372176136 | 0.2932 | None | gnomAD-3.1.2 | 1.31E-05 | |
5366 | 10 | V/M | 13 | rs372176136 | 0.2932 | None | gnomAD-4.0.0 | 3.2364E-05 | |
5367 | 11 | D/A | 14 | rs751854907 | 0.6248 | None | gnomAD-2.1.1 | 4.08E-06 | |
5367 | 11 | D/A | 14 | rs751854907 | 0.6248 | None | gnomAD-4.0.0 | 1.37336E-06 | |
5367 | 11 | D/G | 14 | rs751854907 | 0.6248 | None | gnomAD-2.1.1 | 3.19E-05 | |
5367 | 11 | D/G | 14 | rs751854907 | 0.6248 | None | gnomAD-3.1.2 | 1.31E-05 | |
5367 | 11 | D/G | 14 | rs751854907 | 0.6248 | None | gnomAD-4.0.0 | 3.10859E-06 | |
5367 | 11 | D/N | 14 | None | 0.6248 | None | gnomAD-4.0.0 | 1.60627E-06 | |
5367 | 11 | D/Y | 14 | rs1438312782 | 0.6248 | None | gnomAD-2.1.1 | 4.1E-06 | |
5367 | 11 | D/Y | 14 | rs1438312782 | 0.6248 | None | gnomAD-3.1.2 | 1.31E-05 | |
5367 | 11 | D/Y | 14 | rs1438312782 | 0.6248 | None | gnomAD-4.0.0 | 3.87239E-06 | |
5368 | 12 | S/G | 16 | None | 0.1926 | None | gnomAD-4.0.0 | 3.20634E-06 | |
5368 | 12 | S/N | 16 | None | 0.1926 | None | gnomAD-4.0.0 | 1.37251E-06 | |
5368 | 12 | S/R | 16 | None | 0.1926 | None | gnomAD-4.0.0 | 1.6018E-06 | |
5369 | 13 | V/A | 18 | rs1407785236 | 0.5978 | None | gnomAD-2.1.1 | 8.13E-06 | |
5369 | 13 | V/A | 18 | rs1407785236 | 0.5978 | None | gnomAD-4.0.0 | 3.4302E-06 | |
5369 | 13 | V/F | 18 | None | 0.5978 | None | gnomAD-4.0.0 | 6.86035E-07 | |
5369 | 13 | V/I | 18 | rs780410052 | 0.5978 | None | gnomAD-2.1.1 | 4.07E-06 | |
5369 | 13 | V/I | 18 | rs780410052 | 0.5978 | None | gnomAD-4.0.0 | 3.43017E-06 | |
5370 | 14 | V/F | 23 | rs1560821296 | 0.3536 | None | gnomAD-4.0.0 | 1.37176E-06 | |
5370 | 14 | V/I | 23 | None | 0.3536 | None | gnomAD-4.0.0 | 2.05765E-06 | |
5370 | 14 | V/L | 23 | None | 0.3536 | None | gnomAD-4.0.0 | 6.85882E-07 | |
5371 | 15 | N/I | 24 | None | 0.7873 | None | gnomAD-4.0.0 | 1.5961E-06 | |
5373 | 17 | T/N | 26 | rs1057103177 | 0.6699 | None | gnomAD-3.1.2 | 2.63E-05 | |
5373 | 17 | T/N | 26 | rs1057103177 | 0.6699 | None | gnomAD-4.0.0 | 3.72098E-06 | |
5374 | 18 | C/R | 28 | rs2080832566 | 0.1490 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5374 | 18 | C/Y | 28 | rs375577529 | 0.1490 | None | gnomAD-2.1.1 | 8.61E-05 | |
5374 | 18 | C/Y | 28 | rs375577529 | 0.1490 | None | gnomAD-3.1.2 | 9.86E-05 | |
5374 | 18 | C/Y | 28 | rs375577529 | 0.1490 | None | gnomAD-4.0.0 | 1.19064E-04 | |
5375 | 19 | R/S | 29 | None | 0.4108 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5376 | 20 | L/M | 30 | rs72648936 | 0.1266 | None | gnomAD-2.1.1 | 5.01E-05 | |
5376 | 20 | L/M | 30 | rs72648936 | 0.1266 | None | gnomAD-3.1.2 | 7.55793E-04 | |
5376 | 20 | L/M | 30 | rs72648936 | 0.1266 | None | gnomAD-4.0.0 | 1.16544E-04 | |
5376 | 20 | L/P | 30 | rs1560821110 | 0.1266 | None | gnomAD-3.1.2 | 6.57E-06 | |
5376 | 20 | L/P | 30 | rs1560821110 | 0.1266 | None | gnomAD-4.0.0 | 6.57013E-06 | |
5377 | 21 | D/V | 31 | None | 0.4895 | None | gnomAD-4.0.0 | 1.59243E-06 | |
5378 | 22 | C/F | 33 | None | 0.0800 | None | gnomAD-4.0.0 | 6.84426E-07 | |
5378 | 22 | C/R | 33 | None | 0.0800 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5378 | 22 | C/Y | 33 | rs754271006 | 0.0800 | None | gnomAD-2.1.1 | 4.03E-06 | |
5378 | 22 | C/Y | 33 | rs754271006 | 0.0800 | None | gnomAD-4.0.0 | 1.36885E-06 | |
5379 | 23 | K/T | 34 | rs752346935 | 0.4637 | None | gnomAD-2.1.1 | 1.07E-05 | |
5379 | 23 | K/T | 34 | rs752346935 | 0.4637 | None | gnomAD-3.1.2 | 1.97E-05 | |
5379 | 23 | K/T | 34 | rs752346935 | 0.4637 | None | gnomAD-4.0.0 | 1.67356E-05 | |
5380 | 24 | I/T | 35 | rs767107151 | 0.1212 | None | gnomAD-2.1.1 | 2.02E-05 | |
5380 | 24 | I/T | 35 | rs767107151 | 0.1212 | None | gnomAD-4.0.0 | 7.96105E-06 | |
5380 | 24 | I/V | 35 | rs1280725528 | 0.1212 | None | gnomAD-4.0.0 | 1.59225E-06 | |
5381 | 25 | A/S | 38 | None | 0.2215 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5382 | 26 | G/D | 40 | None | 0.3736 | None | gnomAD-4.0.0 | 6.84355E-07 | |
5382 | 26 | G/V | 40 | None | 0.3736 | None | gnomAD-4.0.0 | 6.84355E-07 | |
5383 | 27 | S/A | 41 | rs758960111 | 0.6988 | None | gnomAD-2.1.1 | 3.19E-05 | |
5383 | 27 | S/A | 41 | rs758960111 | 0.6988 | None | gnomAD-3.1.2 | 6.57E-06 | |
5383 | 27 | S/A | 41 | rs758960111 | 0.6988 | None | gnomAD-4.0.0 | 6.57488E-06 | |
5383 | 27 | S/F | 41 | rs774061411 | 0.6988 | None | gnomAD-2.1.1 | 8.06E-06 | |
5383 | 27 | S/F | 41 | rs774061411 | 0.6988 | None | gnomAD-3.1.2 | 1.31E-05 | |
5383 | 27 | S/F | 41 | rs774061411 | 0.6988 | None | gnomAD-4.0.0 | 4.33884E-06 | |
5383 | 27 | S/T | 41 | rs758960111 | 0.6988 | None | gnomAD-2.1.1 | 4.03E-06 | |
5383 | 27 | S/T | 41 | rs758960111 | 0.6988 | None | gnomAD-3.1.2 | 2.63E-05 | |
5383 | 27 | S/T | 41 | rs758960111 | 0.6988 | None | gnomAD-4.0.0 | 2.62995E-05 | |
5384 | 28 | L/F | 42 | rs879244251 | 0.9107 | None | gnomAD-4.0.0 | 6.84362E-07 | |
5384 | 28 | L/V | 42 | None | 0.9107 | None | gnomAD-4.0.0 | 6.84362E-07 | |
5385 | 29 | P/A | 43 | rs368729048 | 0.8257 | None | gnomAD-2.1.1 | 4.03E-06 | |
5385 | 29 | P/A | 43 | rs368729048 | 0.8257 | None | gnomAD-3.1.2 | 6.57E-06 | |
5385 | 29 | P/A | 43 | rs368729048 | 0.8257 | None | gnomAD-4.0.0 | 6.08985E-06 | |
5386 | 30 | M/I | 44 | None | 0.1807 | None | gnomAD-4.0.0 | 1.44039E-05 | |
5386 | 30 | M/L | 44 | None | 0.1807 | None | gnomAD-4.0.0 | 1.36867E-06 | |
5386 | 30 | M/T | 44 | rs375417155 | 0.1807 | None | gnomAD-2.1.1 | 2.42E-05 | |
5386 | 30 | M/T | 44 | rs375417155 | 0.1807 | None | gnomAD-3.1.2 | 1.97E-05 | |
5386 | 30 | M/T | 44 | rs375417155 | 0.1807 | None | gnomAD-4.0.0 | 2.16929E-05 | |
5386 | 30 | M/V | 44 | rs567457007 | 0.1807 | None | gnomAD-2.1.1 | 2.86E-05 | |
5386 | 30 | M/V | 44 | rs567457007 | 0.1807 | None | gnomAD-3.1.2 | 6.58E-05 | |
5386 | 30 | M/V | 44 | rs567457007 | 0.1807 | None | gnomAD-4.0.0 | 2.10724E-05 | |
5387 | 31 | R/G | 45 | rs371501460 | 0.7985 | None | gnomAD-2.1.1 | 3.19E-05 | |
5387 | 31 | R/G | 45 | rs371501460 | 0.7985 | None | gnomAD-4.0.0 | 1.36867E-06 | |
5387 | 31 | R/T | 45 | rs748155563 | 0.7985 | None | gnomAD-2.1.1 | 3.22E-05 | |
5387 | 31 | R/T | 45 | rs748155563 | 0.7985 | None | gnomAD-4.0.0 | 6.04941E-05 | |
5388 | 32 | V/L | 46 | rs796743868 | 0.2789 | None | gnomAD-2.1.1 | 4.03E-06 | |
5388 | 32 | V/L | 46 | rs796743868 | 0.2789 | None | gnomAD-3.1.2 | 6.57E-06 | |
5388 | 32 | V/L | 46 | rs796743868 | 0.2789 | None | gnomAD-4.0.0 | 6.57289E-06 | |
5389 | 33 | S/F | 47 | rs780968460 | 0.2163 | None | gnomAD-2.1.1 | 4.03E-06 | |
5389 | 33 | S/F | 47 | rs780968460 | 0.2163 | None | gnomAD-4.0.0 | 3.18385E-06 | |
5391 | 35 | F/L | 49 | rs1290194262 | 0.1551 | None | gnomAD-2.1.1 | 3.19E-05 | |
5391 | 35 | F/L | 49 | rs1290194262 | 0.1551 | None | gnomAD-3.1.2 | 6.57E-06 | |
5391 | 35 | F/L | 49 | rs1290194262 | 0.1551 | None | gnomAD-4.0.0 | 6.84329E-07 | |
5392 | 36 | K/R | 50 | rs794729609 | 0.1510 | None | gnomAD-3.1.2 | 6.57E-06 | |
5392 | 36 | K/R | 50 | rs794729609 | 0.1510 | None | gnomAD-4.0.0 | 2.56299E-06 | |
5393 | 37 | D/E | 51 | rs768837104 | 0.5773 | None | gnomAD-2.1.1 | 8.06E-06 | |
5393 | 37 | D/E | 51 | rs768837104 | 0.5773 | None | gnomAD-3.1.2 | 6.58E-06 | |
5393 | 37 | D/E | 51 | rs768837104 | 0.5773 | None | gnomAD-4.0.0 | 7.4378E-06 | |
5393 | 37 | D/H | 51 | None | 0.5773 | None | gnomAD-4.0.0 | 6.84316E-07 | |
5393 | 37 | D/N | 51 | rs867980863 | 0.5773 | None | gnomAD-2.1.1 | 8.06E-06 | |
5393 | 37 | D/N | 51 | rs867980863 | 0.5773 | None | gnomAD-3.1.2 | 1.31E-05 | |
5393 | 37 | D/N | 51 | rs867980863 | 0.5773 | None | gnomAD-4.0.0 | 1.92135E-05 | |
5393 | 37 | D/Y | 51 | None | 0.5773 | None | gnomAD-4.0.0 | 6.84316E-07 | |
5394 | 38 | G/S | 52 | None | 0.4673 | None | gnomAD-4.0.0 | 3.18372E-06 | |
5395 | 39 | K/E | 55 | None | 0.7909 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5396 | 40 | E/K | 56 | rs780211454 | 0.4731 | None | gnomAD-2.1.1 | 8.06E-06 | |
5396 | 40 | E/K | 56 | rs780211454 | 0.4731 | None | gnomAD-4.0.0 | 1.59178E-06 | |
5397 | 41 | I/T | 58 | rs1362992469 | 0.1559 | None | gnomAD-2.1.1 | 3.19E-05 | |
5397 | 41 | I/T | 58 | rs1362992469 | 0.1559 | None | gnomAD-3.1.2 | 6.58E-06 | |
5397 | 41 | I/T | 58 | rs1362992469 | 0.1559 | None | gnomAD-4.0.0 | 4.06017E-06 | |
5397 | 41 | I/V | 58 | rs1451191038 | 0.1559 | None | gnomAD-2.1.1 | 3.19E-05 | |
5397 | 41 | I/V | 58 | rs1451191038 | 0.1559 | None | gnomAD-3.1.2 | 6.57E-06 | |
5397 | 41 | I/V | 58 | rs1451191038 | 0.1559 | None | gnomAD-4.0.0 | 2.56291E-06 | |
5400 | 44 | S/F | 73 | None | 0.2816 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5400 | 44 | S/P | 73 | None | 0.2816 | None | gnomAD-4.0.0 | 1.59169E-06 | |
5401 | 45 | D/E | 111 | rs1349486698 | 1.1339 | None | gnomAD-3.1.2 | 6.57E-06 | |
5401 | 45 | D/E | 111 | rs1349486698 | 1.1339 | None | gnomAD-4.0.0 | 6.84299E-07 | |
5402 | 46 | R/T | 115 | rs886042411 | 0.5468 | None | gnomAD-2.1.1 | 4.03E-06 | |
5402 | 46 | R/T | 115 | rs886042411 | 0.5468 | None | gnomAD-3.1.2 | 1.97E-05 | |
5402 | 46 | R/T | 115 | rs886042411 | 0.5468 | None | gnomAD-4.0.0 | 7.43721E-06 | |
5403 | 47 | Y/F | 121 | None | 0.2295 | None | gnomAD-4.0.0 | 1.59173E-06 | |
5404 | 48 | R/S | 122 | rs758704167 | 0.5428 | None | gnomAD-2.1.1 | 4.03E-06 | |
5404 | 48 | R/S | 122 | rs758704167 | 0.5428 | None | gnomAD-3.1.2 | 1.31E-05 | |
5404 | 48 | R/S | 122 | rs758704167 | 0.5428 | None | gnomAD-4.0.0 | 1.30154E-05 | |
5405 | 49 | I/M | 123 | None | 0.3090 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5405 | 49 | I/T | 123 | rs1165296614 | 0.3090 | None | gnomAD-2.1.1 | 3.19E-05 | |
5405 | 49 | I/T | 123 | rs1165296614 | 0.3090 | None | gnomAD-3.1.2 | 6.57E-06 | |
5405 | 49 | I/T | 123 | rs1165296614 | 0.3090 | None | gnomAD-4.0.0 | 2.56293E-06 | |
5406 | 50 | A/P | 125 | None | 0.3535 | None | gnomAD-4.0.0 | 1.59175E-06 | |
5406 | 50 | A/T | 125 | rs750622079 | 0.3535 | None | gnomAD-2.1.1 | 4.03E-06 | |
5407 | 51 | F/S | 127 | rs367620757 | 0.3217 | None | gnomAD-2.1.1 | 1.21E-05 | |
5407 | 51 | F/S | 127 | rs367620757 | 0.3217 | None | gnomAD-3.1.2 | 6.58E-06 | |
5407 | 51 | F/S | 127 | rs367620757 | 0.3217 | None | gnomAD-4.0.0 | 8.67713E-06 | |
5410 | 54 | G/C | 134 | None | 0.2034 | None | gnomAD-4.0.0 | 6.84302E-07 | |
5411 | 55 | T/I | 135 | rs757542282 | 0.2532 | None | gnomAD-2.1.1 | 4.03E-06 | |
5411 | 55 | T/I | 135 | rs757542282 | 0.2532 | None | gnomAD-4.0.0 | 1.36862E-06 | |
5411 | 55 | T/P | 135 | None | 0.2532 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5412 | 56 | A/G | 136 | rs1282477272 | 0.0819 | None | gnomAD-2.1.1 | 4.03E-06 | |
5412 | 56 | A/G | 136 | rs1282477272 | 0.0819 | None | gnomAD-4.0.0 | 2.73727E-06 | |
5412 | 56 | A/T | 136 | rs727504442 | 0.0819 | None | gnomAD-2.1.1 | 1.21E-05 | |
5412 | 56 | A/T | 136 | rs727504442 | 0.0819 | None | gnomAD-3.1.2 | 3.29E-05 | |
5412 | 56 | A/T | 136 | rs727504442 | 0.0819 | None | gnomAD-4.0.0 | 4.95824E-06 | |
5414 | 58 | L/S | 138 | rs764508505 | 0.0729 | None | gnomAD-2.1.1 | 1.21E-05 | |
5414 | 58 | L/S | 138 | rs764508505 | 0.0729 | None | gnomAD-4.0.0 | 1.36864E-06 | |
5414 | 58 | L/W | 138 | rs764508505 | 0.0729 | None | gnomAD-3.1.2 | 6.57E-06 | |
5414 | 58 | L/W | 138 | rs764508505 | 0.0729 | None | gnomAD-4.0.0 | 1.8594E-06 | |
5415 | 59 | E/A | 139 | None | 0.3479 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5415 | 59 | E/D | 139 | None | 0.3479 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5415 | 59 | E/K | 139 | rs761181567 | 0.3479 | None | gnomAD-2.1.1 | 8.06E-06 | |
5416 | 60 | I/M | 140 | None | 0.0975 | None | gnomAD-4.0.0 | 2.05298E-06 | |
5416 | 60 | I/V | 140 | rs1283439535 | 0.0975 | None | gnomAD-2.1.1 | 4.03E-06 | |
5416 | 60 | I/V | 140 | rs1283439535 | 0.0975 | None | gnomAD-4.0.0 | 2.73729E-06 | |
5418 | 62 | R/G | 143 | rs375436388 | 0.7614 | None | gnomAD-2.1.1 | 4.03E-06 | |
5418 | 62 | R/G | 143 | rs375436388 | 0.7614 | None | gnomAD-3.1.2 | 6.57E-06 | |
5418 | 62 | R/G | 143 | rs375436388 | 0.7614 | None | gnomAD-4.0.0 | 6.57151E-06 | |
5418 | 62 | R/S | 143 | rs1252883471 | 0.7614 | None | gnomAD-3.1.2 | 1.31E-05 | |
5418 | 62 | R/S | 143 | rs1252883471 | 0.7614 | None | gnomAD-4.0.0 | 1.30158E-05 | |
5418 | 62 | R/T | 143 | rs2080809923 | 0.7614 | None | gnomAD-3.1.2 | 6.57E-06 | |
5418 | 62 | R/T | 143 | rs2080809923 | 0.7614 | None | gnomAD-4.0.0 | 6.57203E-06 | |
5419 | 63 | V/A | 144 | rs1352050140 | 0.1039 | None | gnomAD-2.1.1 | 4.03E-06 | |
5419 | 63 | V/A | 144 | rs1352050140 | 0.1039 | None | gnomAD-4.0.0 | 1.59198E-06 | |
5419 | 63 | V/I | 144 | None | 0.1039 | None | gnomAD-4.0.0 | 2.053E-06 | |
5420 | 64 | D/N | 145 | rs765827073 | 0.3276 | None | gnomAD-2.1.1 | 4.03E-06 | |
5420 | 64 | D/N | 145 | rs765827073 | 0.3276 | None | gnomAD-4.0.0 | 3.18391E-06 | |
5421 | 65 | M/T | 146 | rs1304285904 | 0.3516 | None | gnomAD-2.1.1 | 4.03E-06 | |
5421 | 65 | M/T | 146 | rs1304285904 | 0.3516 | None | gnomAD-4.0.0 | 2.05305E-06 | |
5421 | 65 | M/V | 146 | rs1353177231 | 0.3516 | None | gnomAD-2.1.1 | 4.03E-06 | |
5422 | 66 | N/K | 148 | rs762625771 | 0.6938 | None | gnomAD-3.1.2 | 6.58E-06 | |
5422 | 66 | N/K | 148 | rs762625771 | 0.6938 | None | gnomAD-4.0.0 | 6.00203E-06 | |
5423 | 67 | D/N | 149 | rs915060068 | 0.1748 | None | gnomAD-2.1.1 | 4.03E-06 | |
5423 | 67 | D/N | 149 | rs915060068 | 0.1748 | None | gnomAD-4.0.0 | 3.42177E-06 | |
5423 | 67 | D/Y | 149 | rs915060068 | 0.1748 | None | gnomAD-3.1.2 | 6.57E-06 | |
5423 | 67 | D/Y | 149 | rs915060068 | 0.1748 | None | gnomAD-4.0.0 | 1.23961E-06 | |
5424 | 68 | A/S | 151 | None | 0.2240 | None | gnomAD-4.0.0 | 3.18415E-06 | |
5424 | 68 | A/V | 151 | rs1466084495 | 0.2240 | None | gnomAD-2.1.1 | 4.04E-06 | |
5424 | 68 | A/V | 151 | rs1466084495 | 0.2240 | None | gnomAD-4.0.0 | 1.59207E-06 | |
5426 | 70 | N/I | 153 | rs761498812 | 0.4414 | None | gnomAD-2.1.1 | 4.04E-06 | |
5426 | 70 | N/I | 153 | rs761498812 | 0.4414 | None | gnomAD-4.0.0 | 1.59237E-06 | |
5426 | 70 | N/S | 153 | rs761498812 | 0.4414 | None | gnomAD-2.1.1 | 4.04E-06 | |
5426 | 70 | N/S | 153 | rs761498812 | 0.4414 | None | gnomAD-4.0.0 | 1.59237E-06 | |
5427 | 71 | F/L | 154 | None | 0.1183 | None | gnomAD-4.0.0 | 1.59221E-06 | |
5427 | 71 | F/V | 154 | rs776697030 | 0.1183 | None | gnomAD-2.1.1 | 8.07E-06 | |
5427 | 71 | F/V | 154 | rs776697030 | 0.1183 | None | gnomAD-3.1.2 | 6.57E-06 | |
5427 | 71 | F/V | 154 | rs776697030 | 0.1183 | None | gnomAD-4.0.0 | 3.84521E-06 | |
5428 | 72 | T/A | 155 | None | 0.1782 | None | gnomAD-4.0.0 | 1.59287E-06 | |
5429 | 73 | C/F | 156 | None | 0.0633 | None | gnomAD-4.0.0 | 1.59259E-06 | |
5429 | 73 | C/Y | 156 | None | 0.0633 | None | gnomAD-4.0.0 | 1.59259E-06 | |
5430 | 74 | R/Q | 157 | rs746130933 | 0.2879 | None | gnomAD-2.1.1 | 1.21E-05 | |
5430 | 74 | R/Q | 157 | rs746130933 | 0.2879 | None | gnomAD-3.1.2 | 6.57E-06 | |
5430 | 74 | R/Q | 157 | rs746130933 | 0.2879 | None | gnomAD-4.0.0 | 3.71924E-06 | |
5431 | 75 | A/D | 158 | rs1045107649 | 0.0971 | None | gnomAD-3.1.2 | 6.57E-06 | |
5431 | 75 | A/D | 158 | rs1045107649 | 0.0971 | None | gnomAD-4.0.0 | 4.33906E-06 | |
5431 | 75 | A/P | 158 | rs757710470 | 0.0971 | None | gnomAD-2.1.1 | 2.02E-05 | |
5431 | 75 | A/P | 158 | rs757710470 | 0.0971 | None | gnomAD-3.1.2 | 6.57E-06 | |
5431 | 75 | A/P | 158 | rs757710470 | 0.0971 | None | gnomAD-4.0.0 | 1.4257E-05 | |
5431 | 75 | A/T | 158 | None | 0.0971 | None | gnomAD-2.1.1 | 2.02E-05 | |
5431 | 75 | A/T | 158 | None | 0.0971 | None | gnomAD-4.0.0 | 6.1598E-06 | |
5432 | 76 | T/R | 159 | None | 0.2976 | None | gnomAD-4.0.0 | 1.59238E-06 | |
5433 | 77 | N/D | 161 | rs749623638 | 0.1943 | None | gnomAD-2.1.1 | 4.04E-06 | |
5433 | 77 | N/D | 161 | rs749623638 | 0.1943 | None | gnomAD-4.0.0 | 6.00161E-06 | |
5434 | 78 | S/F | 162 | None | 0.7351 | None | gnomAD-4.0.0 | 1.59227E-06 | |
5435 | 79 | V/M | 163 | rs72648937 | 0.9276 | None | gnomAD-2.1.1 | 5.98837E-03 | |
5435 | 79 | V/M | 163 | rs72648937 | 0.9276 | None | gnomAD-3.1.2 | 6.49248E-03 | |
5435 | 79 | V/M | 163 | rs72648937 | 0.9276 | None | 1000 genomes | 3.59425E-03 | |
5435 | 79 | V/M | 163 | rs72648937 | 0.9276 | None | gnomAD-4.0.0 | 8.05303E-03 | |
5437 | 81 | S/N | 165 | rs794727755 | 0.4251 | None | gnomAD-2.1.1 | 7.17E-06 | |
5437 | 81 | S/N | 165 | rs794727755 | 0.4251 | None | gnomAD-3.1.2 | 3.29E-05 | |
5437 | 81 | S/N | 165 | rs794727755 | 0.4251 | None | gnomAD-4.0.0 | 1.92194E-05 | |
5437 | 81 | S/R | 165 | None | 0.4251 | None | gnomAD-4.0.0 | 1.59288E-06 | |
5438 | 82 | K/E | 166 | None | 0.5429 | None | gnomAD-4.0.0 | 1.59333E-06 | |
5438 | 82 | K/R | 166 | rs190636272 | 0.5429 | None | gnomAD-2.1.1 | 5.7671E-04 | |
5438 | 82 | K/R | 166 | rs190636272 | 0.5429 | None | gnomAD-3.1.2 | 5.97984E-04 | |
5438 | 82 | K/R | 166 | rs190636272 | 0.5429 | None | 1000 genomes | 1.99681E-04 | |
5438 | 82 | K/R | 166 | rs190636272 | 0.5429 | None | gnomAD-4.0.0 | 8.02846E-04 | |
5442 | 86 | G/A | 172 | None | 0.1413 | None | gnomAD-4.0.0 | 2.05467E-06 | |
5442 | 86 | G/R | 172 | None | 0.1413 | None | gnomAD-4.0.0 | 1.59491E-06 | |
5443 | 87 | A/S | 173 | None | 0.2228 | None | gnomAD-4.0.0 | 2.05559E-06 | |
5444 | 88 | L/M | 174 | None | 0.1104 | None | gnomAD-4.0.0 | 6.85438E-07 | |
5444 | 88 | L/P | 174 | rs1396279222 | 0.1104 | None | gnomAD-2.1.1 | 4.06E-06 | |
5444 | 88 | L/P | 174 | rs1396279222 | 0.1104 | None | gnomAD-4.0.0 | 1.60205E-06 | |
5445 | 89 | I/L | 175 | rs1360601333 | 0.4085 | None | gnomAD-2.1.1 | 4.06E-06 | |
5445 | 89 | I/L | 175 | rs1360601333 | 0.4085 | None | gnomAD-4.0.0 | 2.05861E-06 | |
5445 | 89 | I/M | 175 | rs1485054332 | 0.4085 | None | gnomAD-2.1.1 | 3.18E-05 | |
5445 | 89 | I/T | 175 | rs1286622718 | 0.4085 | None | gnomAD-2.1.1 | 4.06E-06 | |
5445 | 89 | I/T | 175 | rs1286622718 | 0.4085 | None | gnomAD-4.0.0 | 1.6019E-06 | |
5446 | 90 | V/A | 177 | None | 0.1496 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5446 | 90 | V/L | 177 | None | 0.1496 | None | gnomAD-4.0.0 | 1.37366E-06 | |
5446 | 90 | V/M | 177 | rs1232217078 | 0.1496 | None | gnomAD-3.1.2 | 6.57E-06 | |
5446 | 90 | V/M | 177 | rs1232217078 | 0.1496 | None | gnomAD-4.0.0 | 6.57091E-06 |