10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
A | K | I | I | E | R | A | E | L | I | Q | V | T | A | G | D | P | A | T | L | E | Y | T | V | A | G | T | P | E | L | K | P | K | W | Y | K | D | G | R | P | L | V | A | S | K | K | Y | R | I | S | F | K | N | N | V | A | Q | L | K | F | Y | S | A | E | L | H | D | S | G | Q | Y | T | F | E | I | S | N | E | V | G | S | S | S | C | E | T | T | F | T | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
5261 | 1 | A/S | 1 | None | 0.1334 | None | gnomAD-4.0.0 | 6.86129E-07 | |
5261 | 1 | A/T | 1 | rs1460264002 | 0.1334 | None | gnomAD-2.1.1 | 7.2E-06 | |
5261 | 1 | A/T | 1 | rs1460264002 | 0.1334 | None | gnomAD-3.1.2 | 1.97E-05 | |
5261 | 1 | A/T | 1 | rs1460264002 | 0.1334 | None | gnomAD-4.0.0 | 3.72759E-06 | |
5262 | 2 | K/I | 2 | None | 0.6748 | None | gnomAD-4.0.0 | 1.37188E-06 | |
5262 | 2 | K/R | 2 | rs761927504 | 0.6748 | None | gnomAD-2.1.1 | 4.05E-06 | |
5262 | 2 | K/R | 2 | rs761927504 | 0.6748 | None | gnomAD-4.0.0 | 6.85938E-07 | |
5263 | 3 | I/L | 3 | rs1166030692 | 0.1502 | None | gnomAD-2.1.1 | 4.05E-06 | |
5263 | 3 | I/L | 3 | rs1166030692 | 0.1502 | None | gnomAD-4.0.0 | 1.60066E-06 | |
5263 | 3 | I/N | 3 | rs776892266 | 0.1502 | None | gnomAD-2.1.1 | 7.9E-05 | |
5263 | 3 | I/N | 3 | rs776892266 | 0.1502 | None | gnomAD-3.1.2 | 3.29E-05 | |
5263 | 3 | I/N | 3 | rs776892266 | 0.1502 | None | gnomAD-4.0.0 | 6.04903E-05 | |
5264 | 4 | I/L | 4 | None | 0.4922 | None | gnomAD-4.0.0 | 1.59992E-06 | |
5264 | 4 | I/T | 4 | rs768858900 | 0.4922 | None | gnomAD-2.1.1 | 8.1E-06 | |
5264 | 4 | I/T | 4 | rs768858900 | 0.4922 | None | gnomAD-3.1.2 | 6.57E-06 | |
5264 | 4 | I/T | 4 | rs768858900 | 0.4922 | None | gnomAD-4.0.0 | 5.58835E-06 | |
5264 | 4 | I/V | 4 | None | 0.4922 | None | gnomAD-4.0.0 | 1.59992E-06 | |
5265 | 5 | E/K | 5 | rs1370636944 | 0.5238 | None | gnomAD-2.1.1 | 3.18E-05 | |
5265 | 5 | E/K | 5 | rs1370636944 | 0.5238 | None | gnomAD-3.1.2 | 6.57E-06 | |
5265 | 5 | E/K | 5 | rs1370636944 | 0.5238 | None | gnomAD-4.0.0 | 4.34592E-06 | |
5266 | 6 | R/L | 7 | None | 0.5264 | None | gnomAD-4.0.0 | 3.42685E-06 | |
5266 | 6 | R/Q | 7 | rs749816144 | 0.5264 | None | gnomAD-2.1.1 | 1.21E-05 | |
5266 | 6 | R/Q | 7 | rs749816144 | 0.5264 | None | gnomAD-4.0.0 | 1.3022E-05 | |
5268 | 8 | E/Q | 9 | None | 0.6634 | None | gnomAD-4.0.0 | 3.42576E-06 | |
5269 | 9 | L/P | 11 | None | 0.6688 | None | gnomAD-4.0.0 | 7.53545E-06 | |
5271 | 11 | Q/R | 14 | rs1578198392 | 0.6208 | None | gnomAD-4.0.0 | 1.20036E-06 | |
5272 | 12 | V/M | 16 | rs746406893 | 0.1598 | None | gnomAD-2.1.1 | 2.86E-05 | |
5272 | 12 | V/M | 16 | rs746406893 | 0.1598 | None | gnomAD-3.1.2 | 7.88E-05 | |
5272 | 12 | V/M | 16 | rs746406893 | 0.1598 | None | gnomAD-4.0.0 | 1.92121E-05 | |
5275 | 15 | G/E | 24 | None | 0.3232 | None | gnomAD-4.0.0 | 6.84271E-07 | |
5275 | 15 | G/R | 24 | rs1019067272 | 0.3232 | None | gnomAD-3.1.2 | 6.57E-06 | |
5275 | 15 | G/R | 24 | rs1019067272 | 0.3232 | None | gnomAD-4.0.0 | 3.09865E-06 | |
5276 | 16 | D/N | 25 | rs769246267 | 0.5441 | None | gnomAD-2.1.1 | 7.15E-06 | |
5276 | 16 | D/N | 25 | rs769246267 | 0.5441 | None | gnomAD-3.1.2 | 6.57E-06 | |
5276 | 16 | D/N | 25 | rs769246267 | 0.5441 | None | gnomAD-4.0.0 | 2.47888E-06 | |
5277 | 17 | P/T | 26 | None | 0.5631 | None | gnomAD-4.0.0 | 1.20036E-06 | |
5278 | 18 | A/T | 28 | rs754692422 | 0.1404 | None | gnomAD-2.1.1 | 4.03E-05 | |
5278 | 18 | A/T | 28 | rs754692422 | 0.1404 | None | gnomAD-3.1.2 | 1.97E-05 | |
5278 | 18 | A/T | 28 | rs754692422 | 0.1404 | None | gnomAD-4.0.0 | 1.73522E-05 | |
5279 | 19 | T/A | 29 | rs559795262 | 0.2719 | None | gnomAD-2.1.1 | 7.15E-06 | |
5279 | 19 | T/A | 29 | rs559795262 | 0.2719 | None | gnomAD-3.1.2 | 1.31E-05 | |
5279 | 19 | T/A | 29 | rs559795262 | 0.2719 | None | 1000 genomes | 1.99681E-04 | |
5279 | 19 | T/A | 29 | rs559795262 | 0.2719 | None | gnomAD-4.0.0 | 3.04438E-06 | |
5280 | 20 | L/V | 30 | rs879207679 | 0.1050 | None | gnomAD-4.0.0 | 1.59133E-06 | |
5282 | 22 | Y/C | 33 | rs1253364524 | 0.0832 | None | gnomAD-3.1.2 | 2.63E-05 | |
5282 | 22 | Y/C | 33 | rs1253364524 | 0.0832 | None | gnomAD-4.0.0 | 6.40494E-06 | |
5282 | 22 | Y/D | 33 | rs1438275064 | 0.0832 | None | gnomAD-2.1.1 | 4.02E-06 | |
5282 | 22 | Y/D | 33 | rs1438275064 | 0.0832 | None | gnomAD-3.1.2 | 6.58E-06 | |
5282 | 22 | Y/D | 33 | rs1438275064 | 0.0832 | None | gnomAD-4.0.0 | 2.56281E-06 | |
5283 | 23 | T/R | 34 | None | 0.2384 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5284 | 24 | V/A | 35 | rs1327029023 | 0.1190 | None | gnomAD-2.1.1 | 4.02E-06 | |
5284 | 24 | V/A | 35 | rs1327029023 | 0.1190 | None | gnomAD-4.0.0 | 1.59121E-06 | |
5284 | 24 | V/G | 35 | rs1327029023 | 0.1190 | None | gnomAD-2.1.1 | 4.02E-06 | |
5284 | 24 | V/G | 35 | rs1327029023 | 0.1190 | None | gnomAD-4.0.0 | 1.59121E-06 | |
5284 | 24 | V/M | 35 | rs66839174 | 0.1190 | None | gnomAD-2.1.1 | 1.15733E-03 | |
5284 | 24 | V/M | 35 | rs66839174 | 0.1190 | None | gnomAD-3.1.2 | 3.63452E-03 | |
5284 | 24 | V/M | 35 | rs66839174 | 0.1190 | None | 1000 genomes | 3.59425E-03 | |
5284 | 24 | V/M | 35 | rs66839174 | 0.1190 | None | gnomAD-4.0.0 | 6.51248E-04 | |
5286 | 26 | G/S | 40 | rs1409273228 | 0.3401 | None | gnomAD-3.1.2 | 6.57E-06 | |
5286 | 26 | G/S | 40 | rs1409273228 | 0.3401 | None | gnomAD-4.0.0 | 5.57709E-06 | |
5287 | 27 | T/M | 41 | rs148551876 | 0.8140 | None | gnomAD-2.1.1 | 3.14355E-04 | |
5287 | 27 | T/M | 41 | rs148551876 | 0.8140 | None | gnomAD-3.1.2 | 7.10069E-04 | |
5287 | 27 | T/M | 41 | rs148551876 | 0.8140 | None | 1000 genomes | 9.98403E-04 | |
5287 | 27 | T/M | 41 | rs148551876 | 0.8140 | None | gnomAD-4.0.0 | 1.62353E-04 | |
5288 | 28 | P/L | 42 | None | 0.5178 | None | gnomAD-4.0.0 | 1.36842E-06 | |
5292 | 32 | P/L | 46 | rs1394563400 | 0.3021 | None | gnomAD-2.1.1 | 4.02E-06 | |
5292 | 32 | P/L | 46 | rs1394563400 | 0.3021 | None | gnomAD-4.0.0 | 5.47363E-06 | |
5292 | 32 | P/S | 46 | None | 0.3021 | None | gnomAD-4.0.0 | 6.84208E-07 | |
5292 | 32 | P/T | 46 | None | 0.3021 | None | gnomAD-4.0.0 | 6.84208E-07 | |
5293 | 33 | K/Q | 47 | rs930814645 | 0.3465 | None | gnomAD-2.1.1 | 3.19E-05 | |
5293 | 33 | K/Q | 47 | rs930814645 | 0.3465 | None | gnomAD-3.1.2 | 6.57E-06 | |
5293 | 33 | K/Q | 47 | rs930814645 | 0.3465 | None | gnomAD-4.0.0 | 2.56208E-06 | |
5293 | 33 | K/R | 47 | rs761945485 | 0.3465 | None | gnomAD-2.1.1 | 8.04E-06 | |
5293 | 33 | K/R | 47 | rs761945485 | 0.3465 | None | gnomAD-4.0.0 | 6.36491E-06 | |
5293 | 33 | K/T | 47 | None | 0.3465 | None | gnomAD-4.0.0 | 1.59122E-06 | |
5294 | 34 | W/L | 48 | None | 0.1245 | None | gnomAD-4.0.0 | 6.36511E-06 | |
5295 | 35 | Y/C | 49 | rs753916999 | 0.2443 | None | gnomAD-2.1.1 | 8.04E-06 | |
5295 | 35 | Y/C | 49 | rs753916999 | 0.2443 | None | gnomAD-4.0.0 | 1.59125E-06 | |
5297 | 37 | D/Y | 51 | rs2080895374 | 0.4925 | None | gnomAD-3.1.2 | 6.57E-06 | |
5297 | 37 | D/Y | 51 | rs2080895374 | 0.4925 | None | gnomAD-4.0.0 | 2.56232E-06 | |
5298 | 38 | G/E | 52 | rs1395880212 | 0.4497 | None | gnomAD-2.1.1 | 8.04E-06 | |
5298 | 38 | G/E | 52 | rs1395880212 | 0.4497 | None | gnomAD-4.0.0 | 3.42103E-06 | |
5299 | 39 | R/T | 55 | rs563456537 | 0.7701 | None | gnomAD-2.1.1 | 1.04578E-04 | |
5299 | 39 | R/T | 55 | rs563456537 | 0.7701 | None | gnomAD-3.1.2 | 5.92E-05 | |
5299 | 39 | R/T | 55 | rs563456537 | 0.7701 | None | 1000 genomes | 7.98722E-04 | |
5299 | 39 | R/T | 55 | rs563456537 | 0.7701 | None | gnomAD-4.0.0 | 5.94866E-05 | |
5300 | 40 | P/H | 56 | rs1248409979 | 0.5280 | None | gnomAD-4.0.0 | 1.59127E-06 | |
5300 | 40 | P/S | 56 | rs1436998315 | 0.5280 | None | gnomAD-4.0.0 | 6.8421E-07 | |
5300 | 40 | P/T | 56 | None | 0.5280 | None | gnomAD-4.0.0 | 1.36842E-06 | |
5302 | 42 | V/D | 59 | None | 0.7889 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5302 | 42 | V/I | 59 | rs1410470675 | 0.7889 | None | gnomAD-3.1.2 | 6.57E-06 | |
5302 | 42 | V/I | 59 | rs1410470675 | 0.7889 | None | gnomAD-4.0.0 | 2.5624E-06 | |
5303 | 43 | A/S | 70 | rs72648934 | 0.4333 | None | gnomAD-2.1.1 | 4.02E-06 | |
5303 | 43 | A/S | 70 | rs72648934 | 0.4333 | None | gnomAD-3.1.2 | 6.57E-06 | |
5303 | 43 | A/S | 70 | rs72648934 | 0.4333 | None | gnomAD-4.0.0 | 4.33804E-06 | |
5303 | 43 | A/T | 70 | rs72648934 | 0.4333 | None | gnomAD-2.1.1 | 3.22E-05 | |
5303 | 43 | A/T | 70 | rs72648934 | 0.4333 | None | gnomAD-3.1.2 | 1.97E-05 | |
5303 | 43 | A/T | 70 | rs72648934 | 0.4333 | None | 1000 genomes | 1.99681E-04 | |
5303 | 43 | A/T | 70 | rs72648934 | 0.4333 | None | gnomAD-4.0.0 | 1.98296E-05 | |
5304 | 44 | S/G | 73 | None | 0.2224 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5304 | 44 | S/N | 73 | rs1560825296 | 0.2224 | None | gnomAD-2.1.1 | 4.02E-06 | |
5304 | 44 | S/N | 73 | rs1560825296 | 0.2224 | None | gnomAD-4.0.0 | 1.36843E-06 | |
5304 | 44 | S/T | 73 | None | 0.2224 | None | gnomAD-4.0.0 | 6.84214E-07 | |
5307 | 47 | Y/D | 121 | rs1349650603 | 0.2635 | None | gnomAD-2.1.1 | 4.02E-06 | |
5307 | 47 | Y/D | 121 | rs1349650603 | 0.2635 | None | gnomAD-4.0.0 | 1.59123E-06 | |
5308 | 48 | R/Q | 122 | rs146847928 | 0.5712 | None | gnomAD-2.1.1 | 5.71E-05 | |
5308 | 48 | R/Q | 122 | rs146847928 | 0.5712 | None | gnomAD-3.1.2 | 4.6E-05 | |
5308 | 48 | R/Q | 122 | rs146847928 | 0.5712 | None | 1000 genomes | 3.99361E-04 | |
5308 | 48 | R/Q | 122 | rs146847928 | 0.5712 | None | gnomAD-4.0.0 | 4.15185E-05 | |
5309 | 49 | I/K | 123 | rs780870014 | 0.2443 | None | gnomAD-2.1.1 | 4.02E-06 | |
5309 | 49 | I/K | 123 | rs780870014 | 0.2443 | None | gnomAD-4.0.0 | 1.59128E-06 | |
5309 | 49 | I/M | 123 | None | 0.2443 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5309 | 49 | I/R | 123 | None | 0.2443 | None | gnomAD-4.0.0 | 1.59128E-06 | |
5309 | 49 | I/V | 123 | rs749755802 | 0.2443 | None | gnomAD-3.1.2 | 1.31E-05 | |
5309 | 49 | I/V | 123 | rs749755802 | 0.2443 | None | gnomAD-4.0.0 | 1.31449E-05 | |
5311 | 51 | F/L | 127 | rs768239529 | 0.3227 | None | gnomAD-2.1.1 | 4.02E-06 | |
5311 | 51 | F/L | 127 | rs768239529 | 0.3227 | None | gnomAD-4.0.0 | 3.18258E-06 | |
5313 | 53 | N/S | 131 | None | 0.9190 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5313 | 53 | N/Y | 131 | rs2080887582 | 0.9190 | None | gnomAD-3.1.2 | 6.57E-06 | |
5313 | 53 | N/Y | 131 | rs2080887582 | 0.9190 | None | gnomAD-4.0.0 | 2.56226E-06 | |
5314 | 54 | N/D | 134 | rs371044267 | 0.4205 | None | gnomAD-2.1.1 | 1.28718E-04 | |
5314 | 54 | N/D | 134 | rs371044267 | 0.4205 | None | gnomAD-3.1.2 | 1.97E-05 | |
5314 | 54 | N/D | 134 | rs371044267 | 0.4205 | None | gnomAD-4.0.0 | 4.35539E-05 | |
5314 | 54 | N/S | 134 | None | 0.4205 | None | gnomAD-4.0.0 | 3.42106E-06 | |
5315 | 55 | V/I | 135 | None | 0.2421 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5316 | 56 | A/V | 136 | rs879242937 | 0.0722 | None | gnomAD-2.1.1 | 1.21E-05 | |
5316 | 56 | A/V | 136 | rs879242937 | 0.0722 | None | gnomAD-3.1.2 | 3.29E-05 | |
5316 | 56 | A/V | 136 | rs879242937 | 0.0722 | None | gnomAD-4.0.0 | 2.78862E-05 | |
5317 | 57 | Q/E | 137 | rs1210762968 | 0.3644 | None | gnomAD-4.0.0 | 4.10532E-06 | |
5317 | 57 | Q/P | 137 | rs1230882379 | 0.3644 | None | gnomAD-4.0.0 | 3.18257E-06 | |
5318 | 58 | L/F | 138 | rs1312777672 | 0.0670 | None | gnomAD-2.1.1 | 3.19E-05 | |
5318 | 58 | L/F | 138 | rs1312777672 | 0.0670 | None | gnomAD-3.1.2 | 1.31E-05 | |
5318 | 58 | L/F | 138 | rs1312777672 | 0.0670 | None | gnomAD-4.0.0 | 3.84337E-06 | |
5318 | 58 | L/I | 138 | rs1312777672 | 0.0670 | None | gnomAD-2.1.1 | 3.19E-05 | |
5318 | 58 | L/I | 138 | rs1312777672 | 0.0670 | None | gnomAD-3.1.2 | 6.57E-06 | |
5318 | 58 | L/I | 138 | rs1312777672 | 0.0670 | None | gnomAD-4.0.0 | 6.57082E-06 | |
5318 | 58 | L/R | 138 | None | 0.0670 | None | gnomAD-4.0.0 | 6.84218E-07 | |
5319 | 59 | K/E | 139 | None | 0.4348 | None | gnomAD-4.0.0 | 1.59131E-06 | |
5319 | 59 | K/R | 139 | rs779733584 | 0.4348 | None | gnomAD-3.1.2 | 6.57E-06 | |
5319 | 59 | K/R | 139 | rs779733584 | 0.4348 | None | gnomAD-4.0.0 | 1.85907E-06 | |
5319 | 59 | K/T | 139 | rs779733584 | 0.4348 | None | gnomAD-2.1.1 | 1.21E-05 | |
5319 | 59 | K/T | 139 | rs779733584 | 0.4348 | None | gnomAD-4.0.0 | 2.05266E-06 | |
5321 | 61 | Y/C | 141 | None | 0.6286 | None | gnomAD-4.0.0 | 1.59131E-06 | |
5322 | 62 | S/L | 143 | rs758182029 | 0.4196 | None | gnomAD-2.1.1 | 8.05E-06 | |
5322 | 62 | S/L | 143 | rs758182029 | 0.4196 | None | gnomAD-3.1.2 | 1.97E-05 | |
5322 | 62 | S/L | 143 | rs758182029 | 0.4196 | None | gnomAD-4.0.0 | 2.35488E-05 | |
5323 | 63 | A/G | 144 | None | 0.0993 | None | gnomAD-4.0.0 | 1.59137E-06 | |
5323 | 63 | A/T | 144 | rs745667963 | 0.0993 | None | gnomAD-2.1.1 | 8.05E-06 | |
5323 | 63 | A/T | 144 | rs745667963 | 0.0993 | None | gnomAD-3.1.2 | 1.31E-05 | |
5323 | 63 | A/T | 144 | rs745667963 | 0.0993 | None | gnomAD-4.0.0 | 3.84332E-06 | |
5324 | 64 | E/A | 145 | None | 0.3595 | None | gnomAD-4.0.0 | 4.78955E-06 | |
5326 | 66 | H/D | 148 | None | 0.5680 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5327 | 67 | D/E | 149 | rs1278975928 | 0.1319 | None | gnomAD-2.1.1 | 4.03E-06 | |
5327 | 67 | D/E | 149 | rs1278975928 | 0.1319 | None | gnomAD-4.0.0 | 4.10546E-06 | |
5327 | 67 | D/H | 149 | None | 0.1319 | None | gnomAD-4.0.0 | 1.36849E-06 | |
5327 | 67 | D/N | 149 | rs868056944 | 0.1319 | None | gnomAD-2.1.1 | 7.15E-06 | |
5327 | 67 | D/N | 149 | rs868056944 | 0.1319 | None | gnomAD-3.1.2 | 1.97E-05 | |
5327 | 67 | D/N | 149 | rs868056944 | 0.1319 | None | gnomAD-4.0.0 | 1.05352E-05 | |
5329 | 69 | G/C | 152 | rs1370617731 | 0.1887 | None | gnomAD-4.0.0 | 1.36858E-06 | |
5329 | 69 | G/D | 152 | rs202234492 | 0.1887 | None | gnomAD-2.1.1 | 3.97294E-04 | |
5329 | 69 | G/D | 152 | rs202234492 | 0.1887 | None | gnomAD-3.1.2 | 3.02254E-04 | |
5329 | 69 | G/D | 152 | rs202234492 | 0.1887 | None | gnomAD-4.0.0 | 3.77446E-04 | |
5331 | 71 | Y/C | 154 | rs369924189 | 0.1152 | None | gnomAD-3.1.2 | 6.57E-06 | |
5331 | 71 | Y/C | 154 | rs369924189 | 0.1152 | None | gnomAD-4.0.0 | 2.56281E-06 | |
5332 | 72 | T/I | 155 | rs1232516805 | 0.2005 | None | gnomAD-4.0.0 | 4.10644E-06 | |
5337 | 77 | N/S | 161 | rs752924679 | 0.1651 | None | gnomAD-2.1.1 | 6.47E-05 | |
5337 | 77 | N/S | 161 | rs752924679 | 0.1651 | None | gnomAD-3.1.2 | 3.94E-05 | |
5337 | 77 | N/S | 161 | rs752924679 | 0.1651 | None | gnomAD-4.0.0 | 7.2581E-05 | |
5339 | 79 | V/L | 163 | rs2080875658 | 0.7972 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5340 | 80 | G/D | 164 | rs2080874147 | 0.2765 | None | gnomAD-4.0.0 | 2.74285E-06 | |
5340 | 80 | G/S | 164 | rs759610759 | 0.2765 | None | gnomAD-2.1.1 | 4.07E-06 | |
5340 | 80 | G/S | 164 | rs759610759 | 0.2765 | None | gnomAD-4.0.0 | 1.37117E-06 | |
5342 | 82 | S/G | 166 | None | 0.2021 | None | gnomAD-4.0.0 | 6.86201E-07 | |
5343 | 83 | S/C | 168 | rs369132752 | 0.4573 | None | gnomAD-2.1.1 | 4.11E-06 | |
5343 | 83 | S/C | 168 | rs369132752 | 0.4573 | None | gnomAD-4.0.0 | 6.8702E-07 | |
5343 | 83 | S/F | 168 | rs369132752 | 0.4573 | None | gnomAD-2.1.1 | 2.88E-05 | |
5343 | 83 | S/F | 168 | rs369132752 | 0.4573 | None | gnomAD-3.1.2 | 2.63E-05 | |
5343 | 83 | S/F | 168 | rs369132752 | 0.4573 | None | 1000 genomes | 1.99681E-04 | |
5343 | 83 | S/F | 168 | rs369132752 | 0.4573 | None | gnomAD-4.0.0 | 8.70708E-06 | |
5343 | 83 | S/P | 168 | None | 0.4573 | None | gnomAD-4.0.0 | 3.21087E-06 | |
5344 | 84 | C/R | 169 | None | 0.2549 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5344 | 84 | C/Y | 169 | None | 0.2549 | None | gnomAD-4.0.0 | 1.60987E-06 | |
5345 | 85 | E/D | 171 | rs1298041878 | 0.5701 | None | gnomAD-2.1.1 | 3.18E-05 | |
5346 | 86 | T/I | 172 | rs1010676727 | 0.1774 | None | gnomAD-2.1.1 | 4.17E-06 | |
5346 | 86 | T/I | 172 | rs1010676727 | 0.1774 | None | gnomAD-3.1.2 | 1.97E-05 | |
5346 | 86 | T/I | 172 | rs1010676727 | 0.1774 | None | gnomAD-4.0.0 | 1.93318E-05 | |
5347 | 87 | T/A | 173 | None | 0.4391 | None | gnomAD-4.0.0 | 8.40225E-06 | |
5348 | 88 | F/C | 174 | rs766802878 | 0.1042 | None | gnomAD-2.1.1 | 4.23E-06 | |
5348 | 88 | F/C | 174 | rs766802878 | 0.1042 | None | gnomAD-4.0.0 | 3.24993E-06 | |
5349 | 89 | T/A | 175 | rs2080869632 | 0.3160 | None | gnomAD-3.1.2 | 6.57E-06 | |
5349 | 89 | T/A | 175 | rs2080869632 | 0.3160 | None | gnomAD-4.0.0 | 1.25084E-06 | |
5349 | 89 | T/I | 175 | None | 0.3160 | None | gnomAD-4.0.0 | 1.63129E-06 | |
5349 | 89 | T/S | 175 | None | 0.3160 | None | gnomAD-4.0.0 | 6.91229E-07 | |
5350 | 90 | V/I | 176 | rs2080869284 | 0.1035 | None | gnomAD-3.1.2 | 6.57E-06 | |
5350 | 90 | V/I | 176 | rs2080869284 | 0.1035 | None | gnomAD-4.0.0 | 2.62072E-06 |