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P | P | G | P | P | E | K | P | E | V | S | N | V | T | K | N | T | A | T | V | S | W | K | R | P | V | D | D | G | G | S | E | I | T | G | Y | H | V | E | R | R | E | K | K | S | L | R | W | V | R | A | I | K | T | P | V | S | D | L | R | C | K | V | T | G | L | Q | E | G | S | T | Y | E | F | R | V | S | A | E | N | R | A | G | I | G | P | P | S | E | A | S | D | S | V | L | M | K | D | A | A | Y | P | P | G | P | P | S | N | P | H | V | T | D | T | T | K | K | S | A | S | L | A | W | G | K | P | H | Y | D | G | G | L | E | I | T | G | Y | V | V | E | H | Q | K | V | G | D | E | A | W | I | K | D | T | T | G | T | A | L | R | I | T | Q | F | V | V | P | D | L | Q | T | K | E | K | Y | N | F | R | I | S | A | I | N | D | A | G | V | G | E | P | A | V | I | P | D | V | E | I | V | E | R | E |
P | P | G | P | P | E | K | P | E | V | S | N | V | T | K | N | T | A | T | V | S | W | K | R | P | V | D | D | G | G | S | E | I | T | G | Y | H | V | E | R | R | E | K | K | S | L | R | W | V | R | A | I | K | T | P | V | S | D | L | R | C | K | V | T | G | L | Q | E | G | S | T | Y | E | F | R | V | S | A | E | N | R | A | G | I | G | P | P | S | E | A | S | D | S | V | L | M | K | D | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
23141 | 3 | G/A | 3 | None | 0.2220 | None | gnomAD-4.0.0 | 6.8747E-07 | |
23141 | 3 | G/C | 3 | None | 0.2220 | None | gnomAD-4.0.0 | 1.37462E-06 | |
23141 | 3 | G/D | 3 | None | 0.2220 | None | gnomAD-4.0.0 | 6.8747E-07 | |
23141 | 3 | G/R | 3 | rs1291311240 | 0.2220 | None | gnomAD-4.0.0 | 3.43654E-06 | |
23142 | 4 | P/L | 4 | rs2288572 | 0.4251 | None | gnomAD-2.1.1 | 4.12E-06 | |
23142 | 4 | P/L | 4 | rs2288572 | 0.4251 | None | gnomAD-3.1.2 | 6.58E-06 | |
23142 | 4 | P/L | 4 | rs2288572 | 0.4251 | None | 1000 genomes | 1.99681E-04 | |
23142 | 4 | P/L | 4 | rs2288572 | 0.4251 | None | gnomAD-4.0.0 | 6.5716E-06 | |
23142 | 4 | P/S | 4 | None | 0.4251 | None | gnomAD-4.0.0 | 1.60543E-06 | |
23143 | 5 | P/L | 5 | rs1371049844 | 0.1357 | None | gnomAD-2.1.1 | 8.11E-06 | |
23143 | 5 | P/L | 5 | rs1371049844 | 0.1357 | None | gnomAD-3.1.2 | 6.58E-06 | |
23143 | 5 | P/L | 5 | rs1371049844 | 0.1357 | None | gnomAD-4.0.0 | 1.02744E-05 | |
23146 | 8 | P/L | 9 | rs1203533684 | 0.1461 | None | gnomAD-3.1.2 | 1.97E-05 | |
23146 | 8 | P/L | 9 | rs1203533684 | 0.1461 | None | gnomAD-4.0.0 | 2.23244E-05 | |
23146 | 8 | P/R | 9 | None | 0.1461 | None | gnomAD-4.0.0 | 6.84632E-07 | |
23147 | 9 | E/D | 11 | rs1173953424 | 0.7713 | None | gnomAD-2.1.1 | 4.04E-06 | |
23147 | 9 | E/D | 11 | rs1173953424 | 0.7713 | None | gnomAD-4.0.0 | 1.59336E-06 | |
23147 | 9 | E/G | 11 | rs1396597790 | 0.7713 | None | gnomAD-2.1.1 | 4.05E-06 | |
23147 | 9 | E/G | 11 | rs1396597790 | 0.7713 | None | gnomAD-4.0.0 | 1.59349E-06 | |
23148 | 10 | V/I | 12 | rs777891798 | 0.3266 | None | gnomAD-2.1.1 | 4.04E-06 | |
23148 | 10 | V/I | 12 | rs777891798 | 0.3266 | None | gnomAD-4.0.0 | 1.5932E-06 | |
23149 | 11 | S/L | 13 | rs1559465254 | 0.3343 | None | gnomAD-2.1.1 | 4.04E-06 | |
23149 | 11 | S/L | 13 | rs1559465254 | 0.3343 | None | gnomAD-4.0.0 | 1.59269E-06 | |
23151 | 13 | V/A | 15 | rs769864550 | 0.2837 | None | gnomAD-2.1.1 | 4.04E-06 | |
23151 | 13 | V/I | 15 | rs1230729325 | 0.2837 | None | gnomAD-2.1.1 | 8.07E-06 | |
23151 | 13 | V/I | 15 | rs1230729325 | 0.2837 | None | gnomAD-4.0.0 | 3.1851E-06 | |
23153 | 15 | K/R | 17 | None | 0.4780 | None | gnomAD-4.0.0 | 6.84355E-07 | |
23153 | 15 | K/T | 17 | rs879119970 | 0.4780 | None | gnomAD-2.1.1 | 2.15E-05 | |
23153 | 15 | K/T | 17 | rs879119970 | 0.4780 | None | gnomAD-3.1.2 | 1.32E-05 | |
23153 | 15 | K/T | 17 | rs879119970 | 0.4780 | None | gnomAD-4.0.0 | 1.98351E-05 | |
23154 | 16 | N/D | 18 | rs1486007034 | 0.4572 | None | gnomAD-3.1.2 | 6.58E-06 | |
23154 | 16 | N/D | 18 | rs1486007034 | 0.4572 | None | gnomAD-4.0.0 | 2.03012E-06 | |
23154 | 16 | N/I | 18 | None | 0.4572 | None | gnomAD-4.0.0 | 1.592E-06 | |
23155 | 17 | T/I | 19 | None | 0.2109 | None | gnomAD-4.0.0 | 6.84347E-07 | |
23155 | 17 | T/S | 19 | rs761306433 | 0.2109 | None | gnomAD-2.1.1 | 4.03E-06 | |
23155 | 17 | T/S | 19 | rs761306433 | 0.2109 | None | gnomAD-4.0.0 | 1.71087E-05 | |
23156 | 18 | A/V | 20 | rs748627799 | 0.1160 | None | gnomAD-2.1.1 | 4.03E-06 | |
23157 | 19 | T/A | 21 | rs1362003473 | 0.2164 | None | gnomAD-3.1.2 | 6.58E-06 | |
23157 | 19 | T/A | 21 | rs1362003473 | 0.2164 | None | gnomAD-4.0.0 | 6.57514E-06 | |
23158 | 20 | V/I | 22 | None | 0.1143 | None | gnomAD-4.0.0 | 1.36867E-06 | |
23158 | 20 | V/L | 22 | rs781570281 | 0.1143 | None | gnomAD-2.1.1 | 4.03E-06 | |
23158 | 20 | V/L | 22 | rs781570281 | 0.1143 | None | gnomAD-4.0.0 | 1.36867E-06 | |
23159 | 21 | S/G | 23 | rs1473805330 | 0.2574 | None | gnomAD-3.1.2 | 6.58E-06 | |
23159 | 21 | S/G | 23 | rs1473805330 | 0.2574 | None | gnomAD-4.0.0 | 6.08947E-06 | |
23159 | 21 | S/I | 23 | None | 0.2574 | None | gnomAD-4.0.0 | 1.20033E-06 | |
23159 | 21 | S/R | 23 | None | 0.2574 | None | gnomAD-4.0.0 | 1.59193E-06 | |
23160 | 22 | W/C | 24 | rs1428157842 | 0.1315 | None | gnomAD-2.1.1 | 3.19E-05 | |
23160 | 22 | W/C | 24 | rs1428157842 | 0.1315 | None | gnomAD-3.1.2 | 6.58E-06 | |
23160 | 22 | W/C | 24 | rs1428157842 | 0.1315 | None | gnomAD-4.0.0 | 6.57748E-06 | |
23160 | 22 | W/R | 24 | None | 0.1315 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23164 | 26 | V/A | 28 | None | 1.1026 | None | gnomAD-4.0.0 | 1.59184E-06 | |
23164 | 26 | V/L | 28 | rs755341733 | 1.1026 | None | gnomAD-2.1.1 | 1.21E-05 | |
23164 | 26 | V/L | 28 | rs755341733 | 1.1026 | None | gnomAD-4.0.0 | 2.05292E-06 | |
23164 | 26 | V/M | 28 | rs755341733 | 1.1026 | None | gnomAD-2.1.1 | 4.03E-06 | |
23164 | 26 | V/M | 28 | rs755341733 | 1.1026 | None | gnomAD-4.0.0 | 2.73723E-06 | |
23165 | 27 | D/E | 29 | rs757041441 | 0.5816 | None | gnomAD-2.1.1 | 4.03E-06 | |
23165 | 27 | D/E | 29 | rs757041441 | 0.5816 | None | gnomAD-4.0.0 | 1.59178E-06 | |
23165 | 27 | D/H | 29 | rs778699055 | 0.5816 | None | gnomAD-2.1.1 | 4.03E-06 | |
23165 | 27 | D/H | 29 | rs778699055 | 0.5816 | None | gnomAD-4.0.0 | 3.42153E-06 | |
23165 | 27 | D/N | 29 | None | 0.5816 | None | gnomAD-4.0.0 | 6.84306E-07 | |
23166 | 28 | D/V | 30 | None | 0.4022 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23167 | 29 | G/D | 31 | None | 0.3666 | None | gnomAD-4.0.0 | 6.84294E-07 | |
23167 | 29 | G/S | 31 | rs1412783912 | 0.3666 | None | gnomAD-2.1.1 | 4.03E-06 | |
23167 | 29 | G/S | 31 | rs1412783912 | 0.3666 | None | gnomAD-4.0.0 | 1.59175E-06 | |
23167 | 29 | G/V | 31 | None | 0.3666 | None | gnomAD-4.0.0 | 6.84294E-07 | |
23168 | 30 | G/D | 32 | None | 0.6604 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23169 | 31 | S/I | 33 | rs879245080 | 0.2462 | None | gnomAD-4.0.0 | 4.79005E-06 | |
23169 | 31 | S/N | 33 | None | 0.2462 | None | gnomAD-4.0.0 | 1.36859E-06 | |
23169 | 31 | S/R | 33 | None | 0.2462 | None | gnomAD-4.0.0 | 6.84303E-07 | |
23170 | 32 | E/D | 34 | rs760127657 | 0.8582 | None | gnomAD-2.1.1 | 8.05E-06 | |
23170 | 32 | E/D | 34 | rs760127657 | 0.8582 | None | gnomAD-4.0.0 | 1.09485E-05 | |
23170 | 32 | E/K | 34 | rs1334543067 | 0.8582 | None | gnomAD-2.1.1 | 1.43E-05 | |
23170 | 32 | E/K | 34 | rs1334543067 | 0.8582 | None | gnomAD-3.1.2 | 1.32E-05 | |
23170 | 32 | E/K | 34 | rs1334543067 | 0.8582 | None | gnomAD-4.0.0 | 1.15348E-05 | |
23172 | 34 | T/A | 36 | None | 0.4828 | None | gnomAD-4.0.0 | 1.59167E-06 | |
23172 | 34 | T/I | 36 | rs752643010 | 0.4828 | None | gnomAD-2.1.1 | 8.05E-06 | |
23172 | 34 | T/I | 36 | rs752643010 | 0.4828 | None | gnomAD-3.1.2 | 6.58E-06 | |
23172 | 34 | T/I | 36 | rs752643010 | 0.4828 | None | gnomAD-4.0.0 | 9.91731E-06 | |
23172 | 34 | T/K | 36 | rs752643010 | 0.4828 | None | gnomAD-2.1.1 | 2.41E-05 | |
23172 | 34 | T/K | 36 | rs752643010 | 0.4828 | None | gnomAD-4.0.0 | 2.05287E-05 | |
23173 | 35 | G/R | 37 | rs773592810 | 0.1314 | None | gnomAD-2.1.1 | 1.79E-05 | |
23173 | 35 | G/R | 37 | rs773592810 | 0.1314 | None | gnomAD-3.1.2 | 1.97E-05 | |
23173 | 35 | G/R | 37 | rs773592810 | 0.1314 | None | gnomAD-4.0.0 | 2.66522E-05 | |
23174 | 36 | Y/C | 38 | rs759352559 | 0.1161 | None | gnomAD-2.1.1 | 4.02E-06 | |
23174 | 36 | Y/C | 38 | rs759352559 | 0.1161 | None | gnomAD-4.0.0 | 1.59168E-06 | |
23174 | 36 | Y/D | 38 | rs1472641158 | 0.1161 | None | gnomAD-2.1.1 | 4.02E-06 | |
23174 | 36 | Y/D | 38 | rs1472641158 | 0.1161 | None | gnomAD-4.0.0 | 6.84288E-07 | |
23174 | 36 | Y/H | 38 | None | 0.1161 | None | gnomAD-4.0.0 | 1.36858E-06 | |
23174 | 36 | Y/N | 38 | None | 0.1161 | None | gnomAD-4.0.0 | 2.73715E-06 | |
23175 | 37 | H/N | 39 | None | 0.2360 | None | gnomAD-4.0.0 | 1.59167E-06 | |
23175 | 37 | H/P | 39 | None | 0.2360 | None | gnomAD-4.0.0 | 1.36878E-06 | |
23175 | 37 | H/R | 39 | rs1186507360 | 0.2360 | None | gnomAD-2.1.1 | 4.02E-06 | |
23175 | 37 | H/R | 39 | rs1186507360 | 0.2360 | None | gnomAD-4.0.0 | 1.36873E-06 | |
23176 | 38 | V/A | 40 | rs1258714685 | 0.1570 | None | gnomAD-2.1.1 | 4.02E-06 | |
23176 | 38 | V/A | 40 | rs1258714685 | 0.1570 | None | gnomAD-4.0.0 | 6.15864E-06 | |
23176 | 38 | V/E | 40 | rs1258714685 | 0.1570 | None | gnomAD-2.1.1 | 4.02E-06 | |
23176 | 38 | V/E | 40 | rs1258714685 | 0.1570 | None | gnomAD-4.0.0 | 6.84293E-07 | |
23176 | 38 | V/I | 40 | rs1413591624 | 0.1570 | None | gnomAD-3.1.2 | 6.58E-06 | |
23176 | 38 | V/I | 40 | rs1413591624 | 0.1570 | None | gnomAD-4.0.0 | 3.84456E-06 | |
23178 | 40 | R/M | 42 | rs376978126 | 0.3597 | None | gnomAD-2.1.1 | 2.14E-05 | |
23178 | 40 | R/M | 42 | rs376978126 | 0.3597 | None | gnomAD-3.1.2 | 5.26E-05 | |
23178 | 40 | R/M | 42 | rs376978126 | 0.3597 | None | gnomAD-4.0.0 | 2.23133E-05 | |
23178 | 40 | R/S | 42 | None | 0.3597 | None | gnomAD-4.0.0 | 6.84274E-07 | |
23178 | 40 | R/T | 42 | None | 0.3597 | None | gnomAD-4.0.0 | 6.84276E-07 | |
23178 | 40 | R/W | 42 | None | 0.3597 | None | gnomAD-4.0.0 | 1.59161E-06 | |
23179 | 41 | R/G | 43 | None | 0.2396 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23179 | 41 | R/K | 43 | None | 0.2396 | None | gnomAD-4.0.0 | 2.73712E-06 | |
23179 | 41 | R/T | 43 | rs763091757 | 0.2396 | None | gnomAD-2.1.1 | 8.04E-06 | |
23179 | 41 | R/T | 43 | rs763091757 | 0.2396 | None | gnomAD-4.0.0 | 2.73712E-06 | |
23181 | 43 | K/E | 50 | None | 0.5962 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23182 | 44 | K/E | 54 | None | 1.0412 | None | gnomAD-4.0.0 | 3.60097E-06 | |
23182 | 44 | K/Q | 54 | rs1383372565 | 1.0412 | None | gnomAD-2.1.1 | 3.19E-05 | |
23182 | 44 | K/Q | 54 | rs1383372565 | 1.0412 | None | gnomAD-3.1.2 | 6.58E-06 | |
23182 | 44 | K/Q | 54 | rs1383372565 | 1.0412 | None | gnomAD-4.0.0 | 6.57748E-06 | |
23182 | 44 | K/R | 54 | rs773432437 | 1.0412 | None | gnomAD-2.1.1 | 8.04E-06 | |
23182 | 44 | K/R | 54 | rs773432437 | 1.0412 | None | gnomAD-3.1.2 | 6.58E-06 | |
23182 | 44 | K/R | 54 | rs773432437 | 1.0412 | None | gnomAD-4.0.0 | 2.35522E-05 | |
23184 | 46 | L/P | 63 | rs1334258779 | 1.2142 | None | gnomAD-2.1.1 | 4.02E-06 | |
23184 | 46 | L/P | 63 | rs1334258779 | 1.2142 | None | gnomAD-4.0.0 | 3.18326E-06 | |
23185 | 47 | R/Q | 64 | rs201448988 | 0.7554 | None | gnomAD-2.1.1 | 5.63E-05 | |
23185 | 47 | R/Q | 64 | rs201448988 | 0.7554 | None | gnomAD-3.1.2 | 2.63E-05 | |
23185 | 47 | R/Q | 64 | rs201448988 | 0.7554 | None | 1000 genomes | 1.99681E-04 | |
23185 | 47 | R/Q | 64 | rs201448988 | 0.7554 | None | gnomAD-4.0.0 | 7.80904E-05 | |
23186 | 48 | W/R | 65 | rs769105013 | 0.2494 | None | gnomAD-2.1.1 | 4.02E-06 | |
23186 | 48 | W/R | 65 | rs769105013 | 0.2494 | None | gnomAD-3.1.2 | 6.58E-06 | |
23186 | 48 | W/R | 65 | rs769105013 | 0.2494 | None | gnomAD-4.0.0 | 3.84472E-06 | |
23188 | 50 | R/K | 67 | None | 0.3683 | None | gnomAD-4.0.0 | 2.7371E-06 | |
23188 | 50 | R/T | 67 | None | 0.3683 | None | gnomAD-4.0.0 | 1.36855E-06 | |
23189 | 51 | A/P | 68 | rs747399870 | 0.2504 | None | gnomAD-2.1.1 | 4.02E-06 | |
23189 | 51 | A/P | 68 | rs747399870 | 0.2504 | None | gnomAD-4.0.0 | 1.36855E-06 | |
23189 | 51 | A/T | 68 | None | 0.2504 | None | gnomAD-4.0.0 | 6.84274E-07 | |
23190 | 52 | I/M | 69 | None | 0.3288 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23190 | 52 | I/V | 69 | rs762698812 | 0.3288 | None | gnomAD-4.0.0 | 3.18321E-06 | |
23191 | 53 | K/R | 70 | None | 1.0526 | None | gnomAD-4.0.0 | 9.57988E-06 | |
23192 | 54 | T/A | 72 | rs1343160471 | 0.6669 | None | gnomAD-2.1.1 | 4.02E-06 | |
23192 | 54 | T/A | 72 | rs1343160471 | 0.6669 | None | gnomAD-4.0.0 | 1.59164E-06 | |
23192 | 54 | T/I | 72 | rs1319888327 | 0.6669 | None | gnomAD-2.1.1 | 8.04E-06 | |
23192 | 54 | T/I | 72 | rs1319888327 | 0.6669 | None | gnomAD-3.1.2 | 1.32E-05 | |
23192 | 54 | T/I | 72 | rs1319888327 | 0.6669 | None | gnomAD-4.0.0 | 7.68923E-06 | |
23192 | 54 | T/S | 72 | rs1343160471 | 0.6669 | None | gnomAD-4.0.0 | 3.18327E-06 | |
23193 | 55 | P/L | 75 | None | 0.4401 | None | gnomAD-4.0.0 | 1.5916E-06 | |
23194 | 56 | V/I | 77 | rs2046501912 | 0.1728 | None | gnomAD-3.1.2 | 6.58E-06 | |
23194 | 56 | V/I | 77 | rs2046501912 | 0.1728 | None | gnomAD-4.0.0 | 2.10732E-05 | |
23196 | 58 | D/E | 88 | None | 0.6482 | None | gnomAD-4.0.0 | 1.59161E-06 | |
23196 | 58 | D/N | 88 | rs1162141375 | 0.6482 | None | gnomAD-2.1.1 | 8.04E-06 | |
23196 | 58 | D/N | 88 | rs1162141375 | 0.6482 | None | gnomAD-3.1.2 | 6.58E-06 | |
23196 | 58 | D/N | 88 | rs1162141375 | 0.6482 | None | gnomAD-4.0.0 | 6.81733E-06 | |
23197 | 59 | L/F | 89 | rs2046500337 | 0.2504 | None | gnomAD-4.0.0 | 3.60097E-06 | |
23199 | 61 | C/R | 91 | rs943321083 | 0.2068 | None | gnomAD-2.1.1 | 4.02E-06 | |
23199 | 61 | C/R | 91 | rs943321083 | 0.2068 | None | gnomAD-3.1.2 | 1.32E-05 | |
23199 | 61 | C/R | 91 | rs943321083 | 0.2068 | None | gnomAD-4.0.0 | 3.04539E-06 | |
23200 | 62 | K/E | 92 | rs1256094909 | 0.5583 | None | gnomAD-3.1.2 | 6.58E-06 | |
23200 | 62 | K/E | 92 | rs1256094909 | 0.5583 | None | gnomAD-4.0.0 | 6.57505E-06 | |
23200 | 62 | K/N | 92 | None | 0.5583 | None | gnomAD-4.0.0 | 1.59158E-06 | |
23201 | 63 | V/I | 93 | None | 0.1825 | None | gnomAD-4.0.0 | 1.36855E-06 | |
23201 | 63 | V/L | 93 | None | 0.1825 | None | gnomAD-4.0.0 | 6.84274E-07 | |
23202 | 64 | T/A | 94 | rs2046496039 | 0.6245 | None | gnomAD-3.1.2 | 6.58E-06 | |
23202 | 64 | T/A | 94 | rs2046496039 | 0.6245 | None | gnomAD-4.0.0 | 2.03007E-06 | |
23202 | 64 | T/I | 94 | None | 0.6245 | None | gnomAD-4.0.0 | 1.59161E-06 | |
23203 | 65 | G/E | 96 | rs575899662 | 0.5309 | None | gnomAD-2.1.1 | 1.08585E-04 | |
23203 | 65 | G/E | 96 | rs575899662 | 0.5309 | None | gnomAD-3.1.2 | 2.63E-05 | |
23203 | 65 | G/E | 96 | rs575899662 | 0.5309 | None | 1000 genomes | 1.99681E-04 | |
23203 | 65 | G/E | 96 | rs575899662 | 0.5309 | None | gnomAD-4.0.0 | 5.6397E-05 | |
23206 | 68 | E/Q | 99 | rs1244129033 | 0.5689 | None | gnomAD-2.1.1 | 8.05E-06 | |
23206 | 68 | E/Q | 99 | rs1244129033 | 0.5689 | None | gnomAD-4.0.0 | 2.05282E-06 | |
23207 | 69 | G/E | 100 | None | 0.4207 | None | gnomAD-4.0.0 | 1.5916E-06 | |
23208 | 70 | S/G | 102 | rs1559463266 | 0.1974 | None | gnomAD-2.1.1 | 4.02E-06 | |
23208 | 70 | S/G | 102 | rs1559463266 | 0.1974 | None | gnomAD-4.0.0 | 2.7371E-06 | |
23208 | 70 | S/N | 102 | None | 0.1974 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23208 | 70 | S/R | 102 | None | 0.1974 | None | gnomAD-4.0.0 | 6.8427E-07 | |
23209 | 71 | T/I | 103 | rs910182014 | 0.2804 | None | gnomAD-4.0.0 | 6.84284E-07 | |
23209 | 71 | T/P | 103 | None | 0.2804 | None | gnomAD-4.0.0 | 1.59163E-06 | |
23209 | 71 | T/S | 103 | rs910182014 | 0.2804 | None | gnomAD-2.1.1 | 4.02E-06 | |
23209 | 71 | T/S | 103 | rs910182014 | 0.2804 | None | gnomAD-4.0.0 | 1.36857E-06 | |
23211 | 73 | E/K | 105 | rs1215669622 | 0.1915 | None | gnomAD-2.1.1 | 4.03E-06 | |
23211 | 73 | E/K | 105 | rs1215669622 | 0.1915 | None | gnomAD-4.0.0 | 9.58008E-06 | |
23211 | 73 | E/Q | 105 | rs1215669622 | 0.1915 | None | gnomAD-4.0.0 | 6.84291E-07 | |
23213 | 75 | R/C | 107 | rs1335495074 | 0.1637 | None | gnomAD-2.1.1 | 8.05E-06 | |
23213 | 75 | R/C | 107 | rs1335495074 | 0.1637 | None | gnomAD-3.1.2 | 1.32E-05 | |
23213 | 75 | R/C | 107 | rs1335495074 | 0.1637 | None | gnomAD-4.0.0 | 9.91679E-06 | |
23213 | 75 | R/H | 107 | rs374883884 | 0.1637 | None | gnomAD-2.1.1 | 7.86E-05 | |
23213 | 75 | R/H | 107 | rs374883884 | 0.1637 | None | gnomAD-3.1.2 | 8.55E-05 | |
23213 | 75 | R/H | 107 | rs374883884 | 0.1637 | None | gnomAD-4.0.0 | 2.6029E-05 | |
23213 | 75 | R/P | 107 | rs374883884 | 0.1637 | None | gnomAD-2.1.1 | 4.03E-06 | |
23213 | 75 | R/P | 107 | rs374883884 | 0.1637 | None | gnomAD-3.1.2 | 6.57E-06 | |
23213 | 75 | R/P | 107 | rs374883884 | 0.1637 | None | gnomAD-4.0.0 | 1.85935E-06 | |
23213 | 75 | R/S | 107 | rs1335495074 | 0.1637 | None | gnomAD-2.1.1 | 3.19E-05 | |
23213 | 75 | R/S | 107 | rs1335495074 | 0.1637 | None | gnomAD-3.1.2 | 6.58E-06 | |
23213 | 75 | R/S | 107 | rs1335495074 | 0.1637 | None | gnomAD-4.0.0 | 6.5767E-06 | |
23214 | 76 | V/I | 108 | rs1213856899 | 0.0870 | None | gnomAD-2.1.1 | 4.03E-06 | |
23214 | 76 | V/I | 108 | rs1213856899 | 0.0870 | None | gnomAD-4.0.0 | 1.20032E-05 | |
23215 | 77 | S/N | 109 | rs752195064 | 0.1583 | None | gnomAD-2.1.1 | 1.21E-05 | |
23215 | 77 | S/N | 109 | rs752195064 | 0.1583 | None | gnomAD-3.1.2 | 6.57E-06 | |
23215 | 77 | S/N | 109 | rs752195064 | 0.1583 | None | gnomAD-4.0.0 | 1.28139E-05 | |
23216 | 78 | A/T | 110 | rs1271698447 | 0.1054 | None | gnomAD-2.1.1 | 4.03E-06 | |
23216 | 78 | A/T | 110 | rs1271698447 | 0.1054 | None | gnomAD-4.0.0 | 1.5917E-06 | |
23217 | 79 | E/A | 111 | rs72646884 | 0.2560 | None | gnomAD-2.1.1 | 4.03E-06 | |
23217 | 79 | E/A | 111 | rs72646884 | 0.2560 | None | gnomAD-4.0.0 | 6.84278E-06 | |
23217 | 79 | E/K | 111 | rs767473022 | 0.2560 | None | gnomAD-2.1.1 | 4.03E-06 | |
23217 | 79 | E/K | 111 | rs767473022 | 0.2560 | None | gnomAD-4.0.0 | 1.59168E-06 | |
23222 | 84 | I/L | 117 | None | 0.4329 | None | gnomAD-4.0.0 | 4.79004E-06 | |
23222 | 84 | I/T | 117 | rs1223761195 | 0.4329 | None | gnomAD-2.1.1 | 3.19E-05 | |
23222 | 84 | I/T | 117 | rs1223761195 | 0.4329 | None | gnomAD-3.1.2 | 6.57E-06 | |
23222 | 84 | I/T | 117 | rs1223761195 | 0.4329 | None | gnomAD-4.0.0 | 6.57462E-06 | |
23222 | 84 | I/V | 117 | rs766103673 | 0.4329 | None | gnomAD-2.1.1 | 4.03E-06 | |
23223 | 85 | G/C | 118 | None | 0.2101 | None | gnomAD-4.0.0 | 2.0529E-06 | |
23224 | 86 | P/L | 119 | rs762758398 | 0.4123 | None | gnomAD-2.1.1 | 8.06E-06 | |
23224 | 86 | P/L | 119 | rs762758398 | 0.4123 | None | gnomAD-3.1.2 | 6.57E-06 | |
23224 | 86 | P/L | 119 | rs762758398 | 0.4123 | None | gnomAD-4.0.0 | 3.0989E-06 | |
23225 | 87 | P/S | 120 | None | 0.4077 | None | gnomAD-4.0.0 | 2.40064E-06 | |
23226 | 88 | S/G | 121 | rs72646885 | 0.1263 | None | gnomAD-2.1.1 | 7.21678E-03 | |
23226 | 88 | S/G | 121 | rs72646885 | 0.1263 | None | gnomAD-3.1.2 | 5.76458E-03 | |
23226 | 88 | S/G | 121 | rs72646885 | 0.1263 | None | 1000 genomes | 2.99521E-03 | |
23226 | 88 | S/G | 121 | rs72646885 | 0.1263 | None | gnomAD-4.0.0 | 7.02526E-03 | |
23226 | 88 | S/N | 121 | None | 0.1263 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23227 | 89 | E/K | 122 | rs765429292 | 0.7162 | None | gnomAD-2.1.1 | 4.03E-06 | |
23227 | 89 | E/K | 122 | rs765429292 | 0.7162 | None | gnomAD-4.0.0 | 1.3686E-06 | |
23227 | 89 | E/Q | 122 | rs765429292 | 0.7162 | None | gnomAD-3.1.2 | 6.57E-06 | |
23227 | 89 | E/Q | 122 | rs765429292 | 0.7162 | None | gnomAD-4.0.0 | 1.85934E-06 | |
23228 | 90 | A/S | 123 | None | 0.2480 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23231 | 93 | S/C | 126 | rs776642838 | 0.4298 | None | gnomAD-2.1.1 | 4.03E-06 | |
23231 | 93 | S/C | 126 | rs776642838 | 0.4298 | None | gnomAD-4.0.0 | 4.10611E-06 | |
23231 | 93 | S/F | 126 | rs776642838 | 0.4298 | None | gnomAD-2.1.1 | 1.21E-05 | |
23231 | 93 | S/F | 126 | rs776642838 | 0.4298 | None | gnomAD-4.0.0 | 1.3687E-06 | |
23232 | 94 | V/A | 127 | rs1575819357 | 0.2319 | None | gnomAD-4.0.0 | 3.18409E-06 | |
23232 | 94 | V/L | 127 | rs1195674859 | 0.2319 | None | gnomAD-2.1.1 | 4.03E-06 | |
23232 | 94 | V/L | 127 | rs1195674859 | 0.2319 | None | gnomAD-3.1.2 | 1.31E-05 | |
23232 | 94 | V/L | 127 | rs1195674859 | 0.2319 | None | gnomAD-4.0.0 | 5.57866E-06 | |
23234 | 96 | M/K | 130 | None | 0.0714 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23234 | 96 | M/L | 130 | None | 0.0714 | None | gnomAD-4.0.0 | 1.59263E-06 | |
23234 | 96 | M/T | 130 | rs1002453249 | 0.0714 | None | gnomAD-3.1.2 | 6.57E-06 | |
23234 | 96 | M/T | 130 | rs1002453249 | 0.0714 | None | gnomAD-4.0.0 | 4.05988E-06 | |
23236 | 98 | D/G | 132 | None | 0.5868 | None | gnomAD-4.0.0 | 1.20032E-06 |