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A | E | F | I | S | K | P | Q | N | L | E | I | L | E | G | E | K | A | E | F | V | C | S | I | S | K | E | S | F | P | V | Q | W | K | R | D | D | K | T | L | E | S | G | D | K | Y | D | V | I | A | D | G | K | K | R | V | L | V | V | K | D | A | T | L | Q | D | M | G | T | Y | V | V | M | V | G | A | A | R | A | A | A | H | L | T | V | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
15120 | 1 | A/T | 1 | rs773442807 | 0.3035 | None | gnomAD-2.1.1 | 8.15E-06 | |
15120 | 1 | A/T | 1 | rs773442807 | 0.3035 | None | gnomAD-4.0.0 | 3.19856E-06 | |
15121 | 2 | E/K | 2 | rs1264862895 | 0.7560 | None | gnomAD-2.1.1 | 4.07E-06 | |
15121 | 2 | E/K | 2 | rs1264862895 | 0.7560 | None | gnomAD-4.0.0 | 4.79411E-06 | |
15123 | 4 | I/M | 4 | rs1160173197 | 0.4951 | None | gnomAD-2.1.1 | 3.19E-05 | |
15123 | 4 | I/M | 4 | rs1160173197 | 0.4951 | None | gnomAD-3.1.2 | 1.32E-05 | |
15123 | 4 | I/M | 4 | rs1160173197 | 0.4951 | None | gnomAD-4.0.0 | 1.05512E-05 | |
15123 | 4 | I/S | 4 | None | 0.4951 | None | gnomAD-4.0.0 | 2.40064E-06 | |
15124 | 5 | S/A | 5 | None | 0.2919 | None | gnomAD-4.0.0 | 1.59693E-06 | |
15126 | 7 | P/A | 8 | rs2058234683 | 0.1803 | None | gnomAD-4.0.0 | 1.43693E-05 | |
15130 | 11 | E/K | 14 | rs772087689 | 0.6181 | None | gnomAD-2.1.1 | 2.03E-05 | |
15130 | 11 | E/K | 14 | rs772087689 | 0.6181 | None | gnomAD-3.1.2 | 1.32E-05 | |
15130 | 11 | E/K | 14 | rs772087689 | 0.6181 | None | gnomAD-4.0.0 | 1.66972E-05 | |
15130 | 11 | E/V | 14 | rs1473655528 | 0.6181 | None | gnomAD-2.1.1 | 3.19E-05 | |
15130 | 11 | E/V | 14 | rs1473655528 | 0.6181 | None | gnomAD-3.1.2 | 6.58E-06 | |
15130 | 11 | E/V | 14 | rs1473655528 | 0.6181 | None | gnomAD-4.0.0 | 6.58146E-06 | |
15131 | 12 | I/V | 16 | None | 0.1488 | None | gnomAD-4.0.0 | 4.78689E-06 | |
15133 | 14 | E/D | 23 | rs781744339 | 0.2863 | None | gnomAD-2.1.1 | 4.06E-06 | |
15133 | 14 | E/D | 23 | rs781744339 | 0.2863 | None | gnomAD-3.1.2 | 6.58E-06 | |
15133 | 14 | E/D | 23 | rs781744339 | 0.2863 | None | gnomAD-4.0.0 | 5.58374E-06 | |
15133 | 14 | E/Q | 23 | None | 0.2863 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15136 | 17 | K/N | 26 | rs72677225 | 0.5806 | None | gnomAD-2.1.1 | 5.05756E-03 | |
15136 | 17 | K/N | 26 | rs72677225 | 0.5806 | None | gnomAD-3.1.2 | 5.01086E-03 | |
15136 | 17 | K/N | 26 | rs72677225 | 0.5806 | None | 1000 genomes | 2.19649E-03 | |
15136 | 17 | K/N | 26 | rs72677225 | 0.5806 | None | gnomAD-4.0.0 | 6.65913E-03 | |
15136 | 17 | K/T | 26 | None | 0.5806 | None | gnomAD-4.0.0 | 3.19065E-06 | |
15137 | 18 | A/D | 28 | rs1305459337 | 0.1228 | None | gnomAD-2.1.1 | 4.06E-06 | |
15137 | 18 | A/D | 28 | rs1305459337 | 0.1228 | None | gnomAD-4.0.0 | 1.59519E-06 | |
15138 | 19 | E/V | 29 | None | 0.4416 | None | gnomAD-4.0.0 | 1.59503E-06 | |
15139 | 20 | F/L | 30 | None | 0.0940 | None | gnomAD-4.0.0 | 1.59505E-06 | |
15139 | 20 | F/S | 30 | rs1403204950 | 0.0940 | None | gnomAD-4.0.0 | 1.59503E-06 | |
15140 | 21 | V/I | 31 | None | 0.3176 | None | gnomAD-4.0.0 | 1.59516E-06 | |
15142 | 23 | S/C | 34 | None | 0.1705 | None | gnomAD-4.0.0 | 1.36978E-06 | |
15142 | 23 | S/F | 34 | None | 0.1705 | None | gnomAD-4.0.0 | 6.84888E-07 | |
15143 | 24 | I/V | 35 | rs778468554 | 0.0765 | None | gnomAD-2.1.1 | 8.1E-06 | |
15143 | 24 | I/V | 35 | rs778468554 | 0.0765 | None | gnomAD-3.1.2 | 6.58E-06 | |
15143 | 24 | I/V | 35 | rs778468554 | 0.0765 | None | gnomAD-4.0.0 | 3.7219E-06 | |
15145 | 26 | K/E | 40 | None | 0.4908 | None | gnomAD-4.0.0 | 1.36966E-06 | |
15147 | 28 | S/N | 43 | rs369604317 | 0.4229 | None | gnomAD-3.1.2 | 6.58E-06 | |
15147 | 28 | S/N | 43 | rs369604317 | 0.4229 | None | gnomAD-4.0.0 | 5.58282E-06 | |
15147 | 28 | S/R | 43 | rs987487847 | 0.4229 | None | gnomAD-3.1.2 | 6.59E-06 | |
15147 | 28 | S/R | 43 | rs987487847 | 0.4229 | None | gnomAD-4.0.0 | 2.03056E-06 | |
15148 | 29 | F/I | 44 | None | 0.3177 | None | gnomAD-4.0.0 | 1.59449E-06 | |
15150 | 31 | V/I | 46 | rs1395618626 | 0.2391 | None | gnomAD-2.1.1 | 1.08E-05 | |
15150 | 31 | V/I | 46 | rs1395618626 | 0.2391 | None | gnomAD-3.1.2 | 1.32E-05 | |
15150 | 31 | V/I | 46 | rs1395618626 | 0.2391 | None | gnomAD-4.0.0 | 5.13448E-06 | |
15152 | 33 | W/R | 48 | rs745384075 | 0.1411 | None | gnomAD-2.1.1 | 7.18E-06 | |
15152 | 33 | W/R | 48 | rs745384075 | 0.1411 | None | gnomAD-3.1.2 | 6.59E-06 | |
15152 | 33 | W/R | 48 | rs745384075 | 0.1411 | None | gnomAD-4.0.0 | 1.11655E-05 | |
15153 | 34 | K/E | 49 | rs2154211745 | 0.2600 | None | gnomAD-3.1.2 | 6.59E-06 | |
15153 | 34 | K/E | 49 | rs2154211745 | 0.2600 | None | gnomAD-4.0.0 | 6.5799E-06 | |
15154 | 35 | R/K | 50 | None | 0.1806 | None | gnomAD-4.0.0 | 1.36954E-06 | |
15155 | 36 | D/E | 51 | rs1264511051 | 0.7492 | None | gnomAD-3.1.2 | 1.32E-05 | |
15155 | 36 | D/E | 51 | rs1264511051 | 0.7492 | None | gnomAD-4.0.0 | 1.31692E-05 | |
15155 | 36 | D/G | 51 | None | 0.7492 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15155 | 36 | D/N | 51 | None | 0.7492 | None | gnomAD-4.0.0 | 6.84766E-07 | |
15156 | 37 | D/G | 52 | rs1171217657 | 1.0154 | None | gnomAD-2.1.1 | 7.18E-06 | |
15156 | 37 | D/G | 52 | rs1171217657 | 1.0154 | None | gnomAD-4.0.0 | 2.0543E-06 | |
15156 | 37 | D/N | 52 | rs1375058579 | 1.0154 | None | gnomAD-4.0.0 | 6.16297E-06 | |
15158 | 39 | T/I | 56 | rs371879778 | 0.4104 | None | gnomAD-2.1.1 | 1.43E-05 | |
15158 | 39 | T/I | 56 | rs371879778 | 0.4104 | None | gnomAD-3.1.2 | 3.95E-05 | |
15158 | 39 | T/I | 56 | rs371879778 | 0.4104 | None | gnomAD-4.0.0 | 1.24058E-05 | |
15159 | 40 | L/F | 58 | None | 0.1777 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15159 | 40 | L/P | 58 | None | 0.1777 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15159 | 40 | L/V | 58 | None | 0.1777 | None | gnomAD-4.0.0 | 2.40064E-06 | |
15160 | 41 | E/K | 59 | None | 0.8582 | None | gnomAD-4.0.0 | 1.59424E-06 | |
15161 | 42 | S/C | 70 | rs1469799928 | 0.5105 | None | gnomAD-4.0.0 | 1.36956E-06 | |
15161 | 42 | S/P | 70 | rs1191629167 | 0.5105 | None | gnomAD-2.1.1 | 4.04E-06 | |
15161 | 42 | S/P | 70 | rs1191629167 | 0.5105 | None | gnomAD-4.0.0 | 1.59427E-06 | |
15161 | 42 | S/Y | 70 | rs1469799928 | 0.5105 | None | gnomAD-2.1.1 | 4.04E-06 | |
15161 | 42 | S/Y | 70 | rs1469799928 | 0.5105 | None | gnomAD-4.0.0 | 6.8478E-07 | |
15162 | 43 | G/E | 73 | None | 0.3542 | None | gnomAD-4.0.0 | 1.59429E-06 | |
15163 | 44 | D/E | 111 | rs755689835 | 1.1444 | None | gnomAD-2.1.1 | 4.04E-06 | |
15163 | 44 | D/E | 111 | rs755689835 | 1.1444 | None | gnomAD-3.1.2 | 3.95E-05 | |
15163 | 44 | D/E | 111 | rs755689835 | 1.1444 | None | gnomAD-4.0.0 | 1.28357E-05 | |
15163 | 44 | D/N | 111 | rs2058223645 | 1.1444 | None | gnomAD-3.1.2 | 6.59E-06 | |
15163 | 44 | D/N | 111 | rs2058223645 | 1.1444 | None | gnomAD-4.0.0 | 6.58597E-06 | |
15165 | 46 | Y/C | 121 | None | 0.2094 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15166 | 47 | D/N | 122 | None | 0.3345 | None | gnomAD-4.0.0 | 1.59415E-06 | |
15166 | 47 | D/V | 122 | rs2154211726 | 0.3345 | None | gnomAD-3.1.2 | 6.59E-06 | |
15166 | 47 | D/V | 122 | rs2154211726 | 0.3345 | None | gnomAD-4.0.0 | 6.58111E-06 | |
15167 | 48 | V/I | 123 | rs183245562 | 0.3358 | None | gnomAD-2.1.1 | 2.61748E-04 | |
15167 | 48 | V/I | 123 | rs183245562 | 0.3358 | None | gnomAD-3.1.2 | 7.96797E-04 | |
15167 | 48 | V/I | 123 | rs183245562 | 0.3358 | None | 1000 genomes | 3.99361E-04 | |
15167 | 48 | V/I | 123 | rs183245562 | 0.3358 | None | gnomAD-4.0.0 | 1.53816E-04 | |
15167 | 48 | V/L | 123 | None | 0.3358 | None | gnomAD-4.0.0 | 6.8477E-07 | |
15168 | 49 | I/S | 125 | rs964218547 | 0.4209 | None | gnomAD-2.1.1 | 3.19E-05 | |
15168 | 49 | I/S | 125 | rs964218547 | 0.4209 | None | gnomAD-3.1.2 | 6.59E-06 | |
15168 | 49 | I/S | 125 | rs964218547 | 0.4209 | None | gnomAD-4.0.0 | 6.58623E-06 | |
15168 | 49 | I/T | 125 | rs964218547 | 0.4209 | None | gnomAD-3.1.2 | 1.32E-05 | |
15168 | 49 | I/T | 125 | rs964218547 | 0.4209 | None | gnomAD-4.0.0 | 3.7216E-06 | |
15169 | 50 | A/T | 127 | rs759247684 | 0.5029 | None | gnomAD-2.1.1 | 4.04E-06 | |
15169 | 50 | A/T | 127 | rs759247684 | 0.5029 | None | gnomAD-3.1.2 | 6.59E-06 | |
15169 | 50 | A/T | 127 | rs759247684 | 0.5029 | None | gnomAD-4.0.0 | 1.17849E-05 | |
15170 | 51 | D/E | 130 | None | 0.7828 | None | gnomAD-4.0.0 | 1.36937E-06 | |
15170 | 51 | D/N | 130 | rs751407435 | 0.7828 | None | gnomAD-2.1.1 | 4.04E-06 | |
15170 | 51 | D/N | 130 | rs751407435 | 0.7828 | None | gnomAD-4.0.0 | 1.30101E-05 | |
15171 | 52 | G/V | 131 | None | 0.3198 | None | gnomAD-4.0.0 | 1.5939E-06 | |
15172 | 53 | K/E | 134 | rs766651994 | 0.3543 | None | gnomAD-2.1.1 | 1.08E-05 | |
15172 | 53 | K/E | 134 | rs766651994 | 0.3543 | None | gnomAD-3.1.2 | 1.32E-05 | |
15172 | 53 | K/E | 134 | rs766651994 | 0.3543 | None | gnomAD-4.0.0 | 1.05432E-05 | |
15173 | 54 | K/M | 135 | None | 0.4219 | None | gnomAD-4.0.0 | 1.59378E-06 | |
15174 | 55 | R/G | 136 | rs1237099029 | 0.1206 | None | gnomAD-2.1.1 | 8.07E-06 | |
15174 | 55 | R/G | 136 | rs1237099029 | 0.1206 | None | gnomAD-4.0.0 | 5.47749E-06 | |
15174 | 55 | R/K | 136 | rs763294408 | 0.1206 | None | gnomAD-2.1.1 | 2.42E-05 | |
15174 | 55 | R/K | 136 | rs763294408 | 0.1206 | None | gnomAD-3.1.2 | 6.59E-06 | |
15174 | 55 | R/K | 136 | rs763294408 | 0.1206 | None | gnomAD-4.0.0 | 4.96163E-06 | |
15174 | 55 | R/M | 136 | None | 0.1206 | None | gnomAD-4.0.0 | 6.8469E-07 | |
15175 | 56 | V/A | 137 | rs773388033 | 0.1448 | None | gnomAD-2.1.1 | 7.17E-06 | |
15175 | 56 | V/A | 137 | rs773388033 | 0.1448 | None | gnomAD-3.1.2 | 6.59E-06 | |
15175 | 56 | V/A | 137 | rs773388033 | 0.1448 | None | gnomAD-4.0.0 | 1.24049E-06 | |
15175 | 56 | V/F | 137 | rs1331081266 | 0.1448 | None | gnomAD-3.1.2 | 6.59E-06 | |
15175 | 56 | V/F | 137 | rs1331081266 | 0.1448 | None | gnomAD-4.0.0 | 6.58796E-06 | |
15175 | 56 | V/I | 137 | rs1331081266 | 0.1448 | None | gnomAD-2.1.1 | 4.04E-06 | |
15175 | 56 | V/I | 137 | rs1331081266 | 0.1448 | None | gnomAD-4.0.0 | 1.59387E-06 | |
15177 | 58 | V/L | 139 | rs1298913743 | 0.1510 | None | gnomAD-2.1.1 | 4.04E-06 | |
15177 | 58 | V/L | 139 | rs1298913743 | 0.1510 | None | gnomAD-4.0.0 | 1.59379E-06 | |
15179 | 60 | K/E | 141 | rs1559877046 | 0.2068 | None | gnomAD-2.1.1 | 4.04E-06 | |
15179 | 60 | K/E | 141 | rs1559877046 | 0.2068 | None | gnomAD-3.1.2 | 6.58E-06 | |
15179 | 60 | K/E | 141 | rs1559877046 | 0.2068 | None | gnomAD-4.0.0 | 9.3023E-06 | |
15179 | 60 | K/N | 141 | rs762005432 | 0.2068 | None | gnomAD-2.1.1 | 4.04E-06 | |
15179 | 60 | K/N | 141 | rs762005432 | 0.2068 | None | gnomAD-4.0.0 | 2.73863E-06 | |
15180 | 61 | D/Y | 143 | None | 0.7426 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15182 | 63 | T/A | 145 | None | 0.2964 | None | gnomAD-4.0.0 | 1.59362E-06 | |
15183 | 64 | L/V | 146 | None | 0.3913 | None | gnomAD-4.0.0 | 1.59365E-06 | |
15184 | 65 | Q/E | 148 | rs374605722 | 0.8435 | None | gnomAD-4.0.0 | 1.59363E-06 | |
15186 | 67 | M/T | 151 | rs878910401 | 0.2472 | None | gnomAD-4.0.0 | 1.20033E-06 | |
15187 | 68 | G/D | 152 | rs1175658292 | 0.1869 | None | gnomAD-2.1.1 | 4.04E-06 | |
15187 | 68 | G/D | 152 | rs1175658292 | 0.1869 | None | gnomAD-4.0.0 | 1.59356E-06 | |
15190 | 71 | V/A | 155 | rs769206817 | 0.2718 | None | gnomAD-2.1.1 | 8.07E-06 | |
15190 | 71 | V/A | 155 | rs769206817 | 0.2718 | None | gnomAD-4.0.0 | 3.42326E-06 | |
15190 | 71 | V/I | 155 | rs776996868 | 0.2718 | None | gnomAD-2.1.1 | 3.23E-05 | |
15190 | 71 | V/I | 155 | rs776996868 | 0.2718 | None | gnomAD-4.0.0 | 1.30086E-05 | |
15191 | 72 | V/L | 156 | None | 0.0672 | None | gnomAD-4.0.0 | 1.59369E-06 | |
15192 | 73 | M/I | 157 | rs1559876731 | 0.2837 | None | gnomAD-2.1.1 | 4.04E-06 | |
15192 | 73 | M/I | 157 | rs1559876731 | 0.2837 | None | gnomAD-4.0.0 | 1.59375E-06 | |
15192 | 73 | M/T | 157 | None | 0.2837 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15193 | 74 | V/A | 158 | rs1361317643 | 0.0975 | None | gnomAD-3.1.2 | 6.58E-06 | |
15193 | 74 | V/A | 158 | rs1361317643 | 0.0975 | None | gnomAD-4.0.0 | 2.56618E-06 | |
15193 | 74 | V/L | 158 | rs1435809981 | 0.0975 | None | gnomAD-2.1.1 | 8.08E-06 | |
15193 | 74 | V/L | 158 | rs1435809981 | 0.0975 | None | gnomAD-4.0.0 | 3.18744E-06 | |
15194 | 75 | G/R | 159 | rs747277540 | 0.4988 | None | gnomAD-2.1.1 | 8.08E-06 | |
15194 | 75 | G/R | 159 | rs747277540 | 0.4988 | None | gnomAD-4.0.0 | 4.78126E-06 | |
15195 | 76 | A/T | 161 | rs536167152 | 0.8897 | None | gnomAD-3.1.2 | 6.58E-06 | |
15195 | 76 | A/T | 161 | rs536167152 | 0.8897 | None | 1000 genomes | 1.99681E-04 | |
15195 | 76 | A/T | 161 | rs536167152 | 0.8897 | None | gnomAD-4.0.0 | 6.57791E-06 | |
15196 | 77 | A/T | 162 | rs372872095 | 0.1876 | None | gnomAD-2.1.1 | 2.83E-05 | |
15196 | 77 | A/T | 162 | rs372872095 | 0.1876 | None | gnomAD-3.1.2 | 1.98E-05 | |
15196 | 77 | A/T | 162 | rs372872095 | 0.1876 | None | gnomAD-4.0.0 | 1.67462E-05 | |
15197 | 78 | R/G | 163 | rs748906368 | 0.8315 | None | gnomAD-2.1.1 | 1.21E-05 | |
15197 | 78 | R/G | 163 | rs748906368 | 0.8315 | None | gnomAD-3.1.2 | 6.58E-06 | |
15197 | 78 | R/G | 163 | rs748906368 | 0.8315 | None | gnomAD-4.0.0 | 9.92305E-06 | |
15197 | 78 | R/S | 163 | rs777451653 | 0.8315 | None | gnomAD-2.1.1 | 4.04E-06 | |
15197 | 78 | R/S | 163 | rs777451653 | 0.8315 | None | gnomAD-4.0.0 | 1.59398E-06 | |
15199 | 80 | A/E | 171 | None | 0.4319 | None | gnomAD-4.0.0 | 3.60097E-06 | |
15199 | 80 | A/T | 171 | None | 0.4319 | None | gnomAD-4.0.0 | 3.60097E-06 | |
15200 | 81 | A/G | 172 | rs201057307 | 0.1037 | None | gnomAD-2.1.1 | 5.42007E-04 | |
15200 | 81 | A/G | 172 | rs201057307 | 0.1037 | None | gnomAD-3.1.2 | 3.02847E-04 | |
15200 | 81 | A/G | 172 | rs201057307 | 0.1037 | None | gnomAD-4.0.0 | 3.41767E-04 | |
15200 | 81 | A/P | 172 | None | 0.1037 | None | gnomAD-4.0.0 | 6.84765E-07 | |
15200 | 81 | A/T | 172 | rs752318420 | 0.1037 | None | gnomAD-2.1.1 | 3.64E-05 | |
15200 | 81 | A/T | 172 | rs752318420 | 0.1037 | None | gnomAD-3.1.2 | 1.32E-05 | |
15200 | 81 | A/T | 172 | rs752318420 | 0.1037 | None | gnomAD-4.0.0 | 8.68365E-06 | |
15204 | 85 | V/D | 178 | rs1337863742 | 0.1039 | None | gnomAD-2.1.1 | 4.05E-06 | |
15204 | 85 | V/D | 178 | rs1337863742 | 0.1039 | None | gnomAD-4.0.0 | 1.59547E-06 |