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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
15302 | 1 | L/F | 1 | rs1229771826 | 0.2534 | None | gnomAD-3.1.2 | 6.59E-06 | |
15302 | 1 | L/F | 1 | rs1229771826 | 0.2534 | None | gnomAD-4.0.0 | 1.24573E-06 | |
15303 | 2 | R/K | 2 | None | 0.5725 | None | gnomAD-4.0.0 | 1.60534E-06 | |
15303 | 2 | R/M | 2 | rs771683786 | 0.5725 | None | gnomAD-2.1.1 | 5.46E-05 | |
15303 | 2 | R/M | 2 | rs771683786 | 0.5725 | None | gnomAD-3.1.2 | 9.87E-05 | |
15303 | 2 | R/M | 2 | rs771683786 | 0.5725 | None | gnomAD-4.0.0 | 4.90436E-05 | |
15303 | 2 | R/S | 2 | None | 0.5725 | None | gnomAD-4.0.0 | 6.86754E-07 | |
15303 | 2 | R/T | 2 | rs771683786 | 0.5725 | None | gnomAD-2.1.1 | 4.11E-06 | |
15303 | 2 | R/T | 2 | rs771683786 | 0.5725 | None | gnomAD-4.0.0 | 1.60534E-06 | |
15305 | 4 | V/A | 4 | rs1281172313 | 0.4635 | None | gnomAD-2.1.1 | 4.09E-06 | |
15305 | 4 | V/A | 4 | rs1281172313 | 0.4635 | None | gnomAD-4.0.0 | 3.20302E-06 | |
15305 | 4 | V/F | 4 | None | 0.4635 | None | gnomAD-4.0.0 | 1.60184E-06 | |
15306 | 5 | E/D | 5 | rs761792062 | 0.2918 | None | gnomAD-2.1.1 | 1.23E-05 | |
15306 | 5 | E/D | 5 | rs761792062 | 0.2918 | None | gnomAD-4.0.0 | 1.2352E-05 | |
15306 | 5 | E/K | 5 | rs774339883 | 0.2918 | None | gnomAD-2.1.1 | 1.23E-05 | |
15306 | 5 | E/K | 5 | rs774339883 | 0.2918 | None | gnomAD-3.1.2 | 6.59E-06 | |
15306 | 5 | E/K | 5 | rs774339883 | 0.2918 | None | gnomAD-4.0.0 | 3.79034E-05 | |
15307 | 6 | P/L | 7 | rs749054832 | 0.5306 | None | gnomAD-2.1.1 | 4.09E-06 | |
15308 | 7 | L/P | 8 | None | 0.1439 | None | gnomAD-4.0.0 | 1.59934E-06 | |
15308 | 7 | L/V | 8 | None | 0.1439 | None | gnomAD-4.0.0 | 1.60035E-06 | |
15309 | 8 | K/N | 9 | rs2154211123 | 0.7868 | None | gnomAD-4.0.0 | 1.59939E-06 | |
15309 | 8 | K/T | 9 | rs540113938 | 0.7868 | None | gnomAD-2.1.1 | 4.08E-06 | |
15309 | 8 | K/T | 9 | rs540113938 | 0.7868 | None | gnomAD-3.1.2 | 6.58E-06 | |
15309 | 8 | K/T | 9 | rs540113938 | 0.7868 | None | 1000 genomes | 1.99681E-04 | |
15309 | 8 | K/T | 9 | rs540113938 | 0.7868 | None | gnomAD-4.0.0 | 2.5731E-06 | |
15311 | 10 | I/S | 13 | None | 0.2009 | None | gnomAD-4.0.0 | 6.85409E-07 | |
15311 | 10 | I/T | 13 | rs769964778 | 0.2009 | None | gnomAD-2.1.1 | 4.06E-06 | |
15311 | 10 | I/T | 13 | rs769964778 | 0.2009 | None | gnomAD-4.0.0 | 6.85409E-07 | |
15312 | 11 | E/K | 14 | None | 0.6179 | None | gnomAD-4.0.0 | 1.59785E-06 | |
15312 | 11 | E/Q | 14 | rs748340315 | 0.6179 | None | gnomAD-2.1.1 | 4.06E-06 | |
15312 | 11 | E/Q | 14 | rs748340315 | 0.6179 | None | gnomAD-4.0.0 | 3.19569E-06 | |
15313 | 12 | T/I | 16 | rs2058109086 | 0.1797 | None | gnomAD-4.0.0 | 6.85359E-07 | |
15314 | 13 | M/L | 18 | rs1391292606 | 0.6078 | None | gnomAD-4.0.0 | 6.85269E-07 | |
15314 | 13 | M/V | 18 | rs1391292606 | 0.6078 | None | gnomAD-2.1.1 | 3.19E-05 | |
15314 | 13 | M/V | 18 | rs1391292606 | 0.6078 | None | gnomAD-3.1.2 | 6.58E-06 | |
15314 | 13 | M/V | 18 | rs1391292606 | 0.6078 | None | gnomAD-4.0.0 | 3.10318E-06 | |
15315 | 14 | E/G | 23 | None | 0.3568 | None | gnomAD-4.0.0 | 6.00161E-06 | |
15315 | 14 | E/K | 23 | rs1191106743 | 0.3568 | None | gnomAD-2.1.1 | 3.19E-05 | |
15315 | 14 | E/K | 23 | rs1191106743 | 0.3568 | None | gnomAD-3.1.2 | 6.58E-06 | |
15315 | 14 | E/K | 23 | rs1191106743 | 0.3568 | None | gnomAD-4.0.0 | 3.10331E-06 | |
15316 | 15 | K/N | 24 | rs781445105 | 0.7886 | None | gnomAD-2.1.1 | 4.06E-06 | |
15316 | 15 | K/N | 24 | rs781445105 | 0.7886 | None | gnomAD-4.0.0 | 1.59663E-06 | |
15321 | 20 | F/I | 30 | None | 0.1124 | None | gnomAD-4.0.0 | 4.11036E-06 | |
15321 | 20 | F/L | 30 | rs2058106190 | 0.1124 | None | gnomAD-4.0.0 | 6.8506E-07 | |
15321 | 20 | F/S | 30 | rs1344016534 | 0.1124 | None | gnomAD-2.1.1 | 4.05E-06 | |
15321 | 20 | F/S | 30 | rs1344016534 | 0.1124 | None | gnomAD-4.0.0 | 1.37011E-06 | |
15322 | 21 | W/C | 31 | rs2058105154 | 0.3936 | None | gnomAD-4.0.0 | 6.85008E-07 | |
15326 | 25 | N/K | 38 | None | 0.2777 | None | gnomAD-4.0.0 | 6.84882E-07 | |
15326 | 25 | N/S | 38 | rs2058104840 | 0.2777 | None | gnomAD-3.1.2 | 6.58E-06 | |
15326 | 25 | N/S | 38 | rs2058104840 | 0.2777 | None | gnomAD-4.0.0 | 6.58059E-06 | |
15327 | 26 | R/C | 40 | rs367774903 | 0.3372 | None | gnomAD-2.1.1 | 1.68987E-04 | |
15327 | 26 | R/C | 40 | rs367774903 | 0.3372 | None | gnomAD-3.1.2 | 1.44834E-04 | |
15327 | 26 | R/C | 40 | rs367774903 | 0.3372 | None | gnomAD-4.0.0 | 1.18496E-04 | |
15327 | 26 | R/H | 40 | rs374697274 | 0.3372 | None | gnomAD-2.1.1 | 4.86E-05 | |
15327 | 26 | R/H | 40 | rs374697274 | 0.3372 | None | gnomAD-3.1.2 | 6.58E-05 | |
15327 | 26 | R/H | 40 | rs374697274 | 0.3372 | None | gnomAD-4.0.0 | 1.04839E-04 | |
15329 | 28 | N/D | 43 | rs1417624685 | 0.5828 | None | gnomAD-2.1.1 | 4.05E-06 | |
15329 | 28 | N/D | 43 | rs1417624685 | 0.5828 | None | gnomAD-4.0.0 | 1.5947E-06 | |
15329 | 28 | N/I | 43 | None | 0.5828 | None | gnomAD-4.0.0 | 6.84846E-07 | |
15329 | 28 | N/S | 43 | rs371734564 | 0.5828 | None | gnomAD-2.1.1 | 4.05E-06 | |
15329 | 28 | N/S | 43 | rs371734564 | 0.5828 | None | gnomAD-4.0.0 | 4.10908E-06 | |
15330 | 29 | V/I | 44 | rs1476334999 | 0.2414 | None | gnomAD-2.1.1 | 4.04E-06 | |
15330 | 29 | V/I | 44 | rs1476334999 | 0.2414 | None | gnomAD-4.0.0 | 6.37849E-06 | |
15330 | 29 | V/L | 44 | rs1476334999 | 0.2414 | None | gnomAD-4.0.0 | 1.59462E-06 | |
15332 | 31 | L/M | 46 | None | 0.1523 | None | gnomAD-4.0.0 | 6.84812E-07 | |
15332 | 31 | L/P | 46 | None | 0.1523 | None | gnomAD-4.0.0 | 1.3696E-06 | |
15335 | 34 | T/I | 49 | None | 0.2375 | None | gnomAD-4.0.0 | 1.59441E-06 | |
15337 | 36 | N/H | 51 | None | 0.5603 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15337 | 36 | N/I | 51 | rs762315032 | 0.5603 | None | gnomAD-2.1.1 | 3.19E-05 | |
15337 | 36 | N/I | 51 | rs762315032 | 0.5603 | None | gnomAD-4.0.0 | 1.71198E-05 | |
15338 | 37 | G/S | 52 | None | 0.5080 | None | gnomAD-4.0.0 | 6.84774E-07 | |
15339 | 38 | E/G | 55 | None | 0.8252 | None | gnomAD-4.0.0 | 1.59421E-06 | |
15340 | 39 | E/D | 56 | rs1576546728 | 0.7692 | None | gnomAD-4.0.0 | 1.36953E-06 | |
15342 | 41 | P/H | 59 | rs2154211069 | 0.6271 | None | gnomAD-4.0.0 | 1.59417E-06 | |
15344 | 43 | D/G | 73 | None | 0.4081 | None | gnomAD-4.0.0 | 1.59412E-06 | |
15345 | 44 | N/K | 111 | None | 1.0585 | None | gnomAD-4.0.0 | 1.3695E-06 | |
15345 | 44 | N/S | 111 | None | 1.0585 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15346 | 45 | R/C | 115 | rs767343871 | 0.2892 | None | gnomAD-2.1.1 | 2.15E-05 | |
15346 | 45 | R/C | 115 | rs767343871 | 0.2892 | None | gnomAD-3.1.2 | 1.32E-05 | |
15346 | 45 | R/C | 115 | rs767343871 | 0.2892 | None | gnomAD-4.0.0 | 1.05446E-05 | |
15346 | 45 | R/H | 115 | rs367996763 | 0.2892 | None | gnomAD-2.1.1 | 2.02E-05 | |
15346 | 45 | R/H | 115 | rs367996763 | 0.2892 | None | gnomAD-3.1.2 | 3.29E-05 | |
15346 | 45 | R/H | 115 | rs367996763 | 0.2892 | None | gnomAD-4.0.0 | 1.36455E-05 | |
15347 | 46 | V/A | 121 | None | 0.1389 | None | gnomAD-4.0.0 | 2.05422E-06 | |
15347 | 46 | V/G | 121 | rs375367475 | 0.1389 | None | gnomAD-2.1.1 | 6.45E-05 | |
15347 | 46 | V/G | 121 | rs375367475 | 0.1389 | None | gnomAD-3.1.2 | 2.30427E-04 | |
15347 | 46 | V/G | 121 | rs375367475 | 0.1389 | None | 1000 genomes | 1.99681E-04 | |
15347 | 46 | V/G | 121 | rs375367475 | 0.1389 | None | gnomAD-4.0.0 | 3.41103E-05 | |
15347 | 46 | V/I | 121 | None | 0.1389 | None | gnomAD-4.0.0 | 1.36948E-06 | |
15348 | 47 | S/A | 122 | rs766291551 | 0.3523 | None | gnomAD-2.1.1 | 4.04E-06 | |
15348 | 47 | S/A | 122 | rs766291551 | 0.3523 | None | gnomAD-4.0.0 | 1.59412E-06 | |
15349 | 48 | Y/H | 123 | rs977496032 | 0.2104 | None | gnomAD-3.1.2 | 6.58E-06 | |
15349 | 48 | Y/H | 123 | rs977496032 | 0.2104 | None | gnomAD-4.0.0 | 2.03037E-06 | |
15350 | 49 | R/G | 125 | None | 0.7702 | None | gnomAD-4.0.0 | 3.42373E-06 | |
15350 | 49 | R/K | 125 | None | 0.7702 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15351 | 50 | V/G | 127 | rs1291092152 | 0.3196 | None | gnomAD-2.1.1 | 4.04E-06 | |
15351 | 50 | V/G | 127 | rs1291092152 | 0.3196 | None | gnomAD-4.0.0 | 3.14987E-05 | |
15351 | 50 | V/I | 127 | None | 0.3196 | None | gnomAD-4.0.0 | 4.80129E-06 | |
15352 | 51 | D/G | 130 | rs769556979 | 0.7033 | None | gnomAD-2.1.1 | 1.62E-05 | |
15352 | 51 | D/G | 130 | rs769556979 | 0.7033 | None | gnomAD-4.0.0 | 7.97123E-06 | |
15353 | 52 | K/E | 131 | rs747996981 | 0.6431 | None | gnomAD-2.1.1 | 8.08E-06 | |
15353 | 52 | K/E | 131 | rs747996981 | 0.6431 | None | gnomAD-4.0.0 | 3.18855E-06 | |
15353 | 52 | K/M | 131 | None | 0.6431 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15354 | 53 | Y/C | 134 | rs886038861 | 0.4056 | None | gnomAD-2.1.1 | 4.04E-06 | |
15354 | 53 | Y/C | 134 | rs886038861 | 0.4056 | None | gnomAD-4.0.0 | 1.3695E-05 | |
15354 | 53 | Y/H | 134 | rs1324351583 | 0.4056 | None | gnomAD-2.1.1 | 4.04E-06 | |
15354 | 53 | Y/H | 134 | rs1324351583 | 0.4056 | None | gnomAD-4.0.0 | 1.09562E-05 | |
15355 | 54 | K/N | 135 | rs397517583 | 0.2194 | None | gnomAD-2.1.1 | 2.98811E-04 | |
15355 | 54 | K/N | 135 | rs397517583 | 0.2194 | None | gnomAD-3.1.2 | 8.56E-05 | |
15355 | 54 | K/N | 135 | rs397517583 | 0.2194 | None | 1000 genomes | 5.99042E-04 | |
15355 | 54 | K/N | 135 | rs397517583 | 0.2194 | None | gnomAD-4.0.0 | 1.35205E-04 | |
15355 | 54 | K/Q | 135 | None | 0.2194 | None | gnomAD-4.0.0 | 1.3695E-06 | |
15355 | 54 | K/R | 135 | rs776832569 | 0.2194 | None | gnomAD-2.1.1 | 4.04E-06 | |
15357 | 56 | M/I | 137 | None | 0.2723 | None | gnomAD-4.0.0 | 6.84779E-07 | |
15359 | 58 | T/N | 139 | rs780024396 | 0.2393 | None | gnomAD-2.1.1 | 4.04E-06 | |
15359 | 58 | T/N | 139 | rs780024396 | 0.2393 | None | gnomAD-4.0.0 | 3.18866E-06 | |
15360 | 59 | I/M | 140 | rs746352388 | 0.1158 | None | gnomAD-2.1.1 | 4.04E-06 | |
15360 | 59 | I/M | 140 | rs746352388 | 0.1158 | None | gnomAD-4.0.0 | 3.18877E-06 | |
15360 | 59 | I/T | 140 | rs1465320800 | 0.1158 | None | gnomAD-2.1.1 | 1.43E-05 | |
15360 | 59 | I/T | 140 | rs1465320800 | 0.1158 | None | gnomAD-3.1.2 | 1.98E-05 | |
15360 | 59 | I/T | 140 | rs1465320800 | 0.1158 | None | gnomAD-4.0.0 | 1.92282E-05 | |
15360 | 59 | I/V | 140 | rs758542642 | 0.1158 | None | gnomAD-2.1.1 | 4.04E-06 | |
15360 | 59 | I/V | 140 | rs758542642 | 0.1158 | None | gnomAD-4.0.0 | 1.59436E-06 | |
15362 | 61 | D/E | 143 | rs2058092096 | 0.6473 | None | gnomAD-4.0.0 | 1.59442E-06 | |
15362 | 61 | D/G | 143 | rs779619831 | 0.6473 | None | gnomAD-4.0.0 | 1.59441E-06 | |
15363 | 62 | C/G | 144 | None | 0.1045 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15368 | 67 | E/A | 151 | None | 0.2092 | None | gnomAD-4.0.0 | 1.59442E-06 | |
15368 | 67 | E/K | 151 | None | 0.2092 | None | gnomAD-4.0.0 | 1.59446E-06 | |
15369 | 68 | G/S | 152 | rs754258909 | 0.1805 | None | gnomAD-2.1.1 | 8.08E-06 | |
15369 | 68 | G/S | 152 | rs754258909 | 0.1805 | None | gnomAD-3.1.2 | 1.32E-05 | |
15369 | 68 | G/S | 152 | rs754258909 | 0.1805 | None | gnomAD-4.0.0 | 3.85078E-06 | |
15370 | 69 | E/V | 153 | None | 0.3920 | None | gnomAD-4.0.0 | 1.59445E-06 | |
15372 | 71 | I/L | 155 | None | 0.2265 | None | gnomAD-4.0.0 | 6.8481E-07 | |
15372 | 71 | I/T | 155 | None | 0.2265 | None | gnomAD-4.0.0 | 1.59452E-06 | |
15372 | 71 | I/V | 155 | rs2154211008 | 0.2265 | None | gnomAD-4.0.0 | 6.8481E-07 | |
15373 | 72 | V/D | 156 | rs2058089139 | 0.0875 | None | gnomAD-3.1.2 | 6.58E-06 | |
15373 | 72 | V/D | 156 | rs2058089139 | 0.0875 | None | gnomAD-4.0.0 | 6.58302E-06 | |
15374 | 73 | T/A | 157 | rs1313103090 | 0.2762 | None | gnomAD-3.1.2 | 6.58E-06 | |
15374 | 73 | T/A | 157 | rs1313103090 | 0.2762 | None | gnomAD-4.0.0 | 6.58293E-06 | |
15375 | 74 | A/S | 158 | rs767265973 | 0.1133 | None | gnomAD-2.1.1 | 4.04E-06 | |
15375 | 74 | A/S | 158 | rs767265973 | 0.1133 | None | gnomAD-4.0.0 | 1.36969E-06 | |
15375 | 74 | A/T | 158 | rs767265973 | 0.1133 | None | gnomAD-2.1.1 | 4.04E-06 | |
15375 | 74 | A/T | 158 | rs767265973 | 0.1133 | None | gnomAD-3.1.2 | 6.58E-06 | |
15375 | 74 | A/T | 158 | rs767265973 | 0.1133 | None | gnomAD-4.0.0 | 9.92526E-06 | |
15376 | 75 | G/E | 159 | None | 0.4180 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15376 | 75 | G/R | 159 | rs1370978801 | 0.4180 | None | gnomAD-2.1.1 | 4.04E-06 | |
15376 | 75 | G/R | 159 | rs1370978801 | 0.4180 | None | gnomAD-4.0.0 | 1.36974E-06 | |
15377 | 76 | Q/E | 165 | None | 1.0681 | None | gnomAD-4.0.0 | 1.36972E-06 | |
15377 | 76 | Q/K | 165 | None | 1.0681 | None | gnomAD-4.0.0 | 6.84858E-07 | |
15377 | 76 | Q/R | 165 | None | 1.0681 | None | gnomAD-4.0.0 | 2.40064E-06 | |
15378 | 77 | D/G | 166 | rs1443484418 | 0.2949 | None | gnomAD-2.1.1 | 4.04E-06 | |
15378 | 77 | D/G | 166 | rs1443484418 | 0.2949 | None | gnomAD-4.0.0 | 1.59502E-06 | |
15378 | 77 | D/H | 166 | rs1301703106 | 0.2949 | None | gnomAD-4.0.0 | 1.59506E-06 | |
15378 | 77 | D/N | 166 | rs1301703106 | 0.2949 | None | gnomAD-2.1.1 | 4.04E-06 | |
15378 | 77 | D/N | 166 | rs1301703106 | 0.2949 | None | gnomAD-4.0.0 | 1.59506E-06 | |
15381 | 80 | V/A | 171 | rs369269320 | 0.3340 | None | gnomAD-2.1.1 | 3.60628E-04 | |
15381 | 80 | V/A | 171 | rs369269320 | 0.3340 | None | gnomAD-3.1.2 | 1.38256E-04 | |
15381 | 80 | V/A | 171 | rs369269320 | 0.3340 | None | 1000 genomes | 5.99042E-04 | |
15381 | 80 | V/A | 171 | rs369269320 | 0.3340 | None | gnomAD-4.0.0 | 1.46468E-04 | |
15383 | 82 | E/K | 173 | rs773073914 | 0.6160 | None | gnomAD-4.0.0 | 6.854E-07 | |
15383 | 82 | E/Q | 173 | rs773073914 | 0.6160 | None | gnomAD-2.1.1 | 1.08E-05 | |
15383 | 82 | E/Q | 173 | rs773073914 | 0.6160 | None | gnomAD-3.1.2 | 2.63E-05 | |
15383 | 82 | E/Q | 173 | rs773073914 | 0.6160 | None | gnomAD-4.0.0 | 3.35225E-05 | |
15384 | 83 | L/F | 174 | rs727505078 | 0.1076 | None | gnomAD-2.1.1 | 4.06E-06 | |
15384 | 83 | L/F | 174 | rs727505078 | 0.1076 | None | gnomAD-4.0.0 | 6.85478E-07 | |
15384 | 83 | L/V | 174 | rs727505078 | 0.1076 | None | gnomAD-4.0.0 | 1.02822E-05 | |
15385 | 84 | L/F | 175 | rs2058085346 | 0.6176 | None | gnomAD-3.1.2 | 6.58E-06 | |
15385 | 84 | L/F | 175 | rs2058085346 | 0.6176 | None | gnomAD-4.0.0 | 6.58285E-06 | |
15385 | 84 | L/R | 175 | None | 0.6176 | None | gnomAD-4.0.0 | 1.59966E-06 | |
15386 | 85 | I/T | 178 | None | 0.6393 | None | gnomAD-4.0.0 | 1.5998E-06 | |
15386 | 85 | I/V | 178 | rs879033914 | 0.6393 | None | gnomAD-4.0.0 | 2.05735E-06 |