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P | Y | F | T | V | K | L | H | D | K | T | A | V | E | K | D | E | I | T | L | K | C | E | V | S | K | D | V | P | V | K | W | F | K | D | G | E | E | I | V | P | S | P | K | Y | S | I | K | A | D | G | L | R | R | I | L | K | I | K | K | A | D | L | K | D | K | G | E | Y | V | C | D | C | G | T | D | K | T | K | A | N | V | T | V | E | A | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
14232 | 2 | Y/C | 2 | rs1200157031 | 0.5322 | None | gnomAD-2.1.1 | 8.12E-06 | |
14232 | 2 | Y/C | 2 | rs1200157031 | 0.5322 | None | gnomAD-4.0.0 | 3.18758E-06 | |
14234 | 4 | T/I | 4 | None | 0.3375 | None | gnomAD-4.0.0 | 1.20033E-06 | |
14238 | 8 | H/Q | 9 | rs1438979717 | 0.8332 | None | gnomAD-3.1.2 | 6.57E-06 | |
14238 | 8 | H/Q | 9 | rs1438979717 | 0.8332 | None | gnomAD-4.0.0 | 2.73843E-06 | |
14239 | 9 | D/N | 11 | rs1050740085 | 0.5408 | None | gnomAD-4.0.0 | 8.40225E-06 | |
14242 | 12 | A/E | 16 | None | 0.1828 | None | gnomAD-4.0.0 | 1.36917E-06 | |
14242 | 12 | A/G | 16 | rs769564228 | 0.1828 | None | gnomAD-2.1.1 | 7.18E-06 | |
14242 | 12 | A/G | 16 | rs769564228 | 0.1828 | None | gnomAD-3.1.2 | 6.58E-06 | |
14242 | 12 | A/G | 16 | rs769564228 | 0.1828 | None | gnomAD-4.0.0 | 3.10017E-06 | |
14242 | 12 | A/V | 16 | rs769564228 | 0.1828 | None | gnomAD-2.1.1 | 1.08E-05 | |
14242 | 12 | A/V | 16 | rs769564228 | 0.1828 | None | gnomAD-3.1.2 | 1.32E-05 | |
14242 | 12 | A/V | 16 | rs769564228 | 0.1828 | None | gnomAD-4.0.0 | 5.58031E-06 | |
14243 | 13 | V/E | 18 | None | 0.3359 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14246 | 16 | D/E | 25 | None | 0.3926 | None | gnomAD-4.0.0 | 1.36946E-06 | |
14247 | 17 | E/D | 26 | rs1017956154 | 0.3923 | None | gnomAD-4.0.0 | 6.84493E-07 | |
14252 | 22 | C/G | 33 | rs1372237054 | 0.0936 | None | gnomAD-2.1.1 | 4.04E-06 | |
14252 | 22 | C/G | 33 | rs1372237054 | 0.0936 | None | gnomAD-3.1.2 | 1.31E-05 | |
14252 | 22 | C/G | 33 | rs1372237054 | 0.0936 | None | gnomAD-4.0.0 | 5.57904E-06 | |
14253 | 23 | E/Q | 34 | rs1276212237 | 0.2412 | None | gnomAD-3.1.2 | 6.57E-06 | |
14253 | 23 | E/Q | 34 | rs1276212237 | 0.2412 | None | gnomAD-4.0.0 | 2.56379E-06 | |
14254 | 24 | V/E | 35 | rs1342186371 | 0.1082 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14255 | 25 | S/N | 38 | rs368433387 | 0.2245 | None | gnomAD-2.1.1 | 4.04E-06 | |
14255 | 25 | S/N | 38 | rs368433387 | 0.2245 | None | gnomAD-3.1.2 | 1.97E-05 | |
14255 | 25 | S/N | 38 | rs368433387 | 0.2245 | None | 1000 genomes | 1.99681E-04 | |
14255 | 25 | S/N | 38 | rs368433387 | 0.2245 | None | gnomAD-4.0.0 | 5.07429E-06 | |
14256 | 26 | K/Q | 40 | None | 0.5817 | None | gnomAD-4.0.0 | 8.21284E-06 | |
14256 | 26 | K/R | 40 | rs768083088 | 0.5817 | None | gnomAD-2.1.1 | 4.03E-06 | |
14256 | 26 | K/R | 40 | rs768083088 | 0.5817 | None | gnomAD-3.1.2 | 1.31E-05 | |
14256 | 26 | K/R | 40 | rs768083088 | 0.5817 | None | gnomAD-4.0.0 | 3.84531E-06 | |
14257 | 27 | D/N | 43 | rs746571349 | 0.6973 | None | gnomAD-2.1.1 | 4.03E-06 | |
14257 | 27 | D/N | 43 | rs746571349 | 0.6973 | None | gnomAD-3.1.2 | 1.31E-05 | |
14257 | 27 | D/N | 43 | rs746571349 | 0.6973 | None | gnomAD-4.0.0 | 6.4092E-06 | |
14259 | 29 | P/S | 45 | rs1466149919 | 0.7758 | None | gnomAD-2.1.1 | 4.03E-06 | |
14259 | 29 | P/S | 45 | rs1466149919 | 0.7758 | None | gnomAD-4.0.0 | 1.59234E-06 | |
14261 | 31 | K/R | 47 | None | 0.4016 | None | gnomAD-4.0.0 | 1.5923E-06 | |
14265 | 35 | D/G | 51 | rs1009314740 | 0.5959 | None | gnomAD-2.1.1 | 3.19E-05 | |
14265 | 35 | D/G | 51 | rs1009314740 | 0.5959 | None | gnomAD-3.1.2 | 1.97E-05 | |
14265 | 35 | D/G | 51 | rs1009314740 | 0.5959 | None | gnomAD-4.0.0 | 3.0992E-06 | |
14265 | 35 | D/N | 51 | rs758416170 | 0.5959 | None | gnomAD-2.1.1 | 4.03E-06 | |
14265 | 35 | D/Y | 51 | rs758416170 | 0.5959 | None | gnomAD-2.1.1 | 4.03E-06 | |
14265 | 35 | D/Y | 51 | rs758416170 | 0.5959 | None | gnomAD-4.0.0 | 1.5922E-06 | |
14266 | 36 | G/D | 52 | None | 0.4521 | None | gnomAD-4.0.0 | 1.36876E-06 | |
14266 | 36 | G/S | 52 | rs896263032 | 0.4521 | None | gnomAD-3.1.2 | 6.57E-06 | |
14266 | 36 | G/S | 52 | rs896263032 | 0.4521 | None | gnomAD-4.0.0 | 2.56364E-06 | |
14268 | 38 | E/A | 56 | None | 0.3360 | None | gnomAD-4.0.0 | 6.8438E-07 | |
14268 | 38 | E/Q | 56 | None | 0.3360 | None | gnomAD-4.0.0 | 2.05315E-06 | |
14268 | 38 | E/V | 56 | None | 0.3360 | None | gnomAD-4.0.0 | 6.8438E-07 | |
14269 | 39 | I/M | 58 | rs778681091 | 0.1208 | None | gnomAD-4.0.0 | 1.59212E-06 | |
14269 | 39 | I/V | 58 | rs941635511 | 0.1208 | None | gnomAD-4.0.0 | 4.7906E-06 | |
14270 | 40 | V/F | 59 | rs1187293520 | 0.6638 | None | gnomAD-2.1.1 | 4.03E-06 | |
14270 | 40 | V/F | 59 | rs1187293520 | 0.6638 | None | gnomAD-4.0.0 | 1.36875E-06 | |
14270 | 40 | V/I | 59 | None | 0.6638 | None | gnomAD-4.0.0 | 6.84376E-07 | |
14271 | 41 | P/L | 70 | None | 0.5878 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14273 | 43 | P/S | 111 | rs1440872005 | 0.8411 | None | gnomAD-2.1.1 | 4.03E-06 | |
14273 | 43 | P/S | 111 | rs1440872005 | 0.8411 | None | gnomAD-4.0.0 | 1.59217E-06 | |
14274 | 44 | K/N | 115 | rs2060064294 | 0.1501 | None | gnomAD-3.1.2 | 6.57E-06 | |
14274 | 44 | K/N | 115 | rs2060064294 | 0.1501 | None | gnomAD-4.0.0 | 6.57384E-06 | |
14276 | 46 | S/A | 122 | None | 0.3600 | None | gnomAD-4.0.0 | 4.80129E-06 | |
14276 | 46 | S/F | 122 | rs2060063750 | 0.3600 | None | gnomAD-4.0.0 | 1.59218E-06 | |
14277 | 47 | I/F | 123 | rs397517568 | 0.2787 | None | gnomAD-2.1.1 | 8.05E-06 | |
14277 | 47 | I/F | 123 | rs397517568 | 0.2787 | None | gnomAD-4.0.0 | 7.52811E-06 | |
14278 | 48 | K/N | 125 | rs754085836 | 0.6332 | None | gnomAD-3.1.2 | 1.97E-05 | |
14278 | 48 | K/N | 125 | rs754085836 | 0.6332 | None | gnomAD-4.0.0 | 2.54138E-05 | |
14278 | 48 | K/Q | 125 | rs1167849818 | 0.6332 | None | gnomAD-3.1.2 | 6.57E-06 | |
14278 | 48 | K/Q | 125 | rs1167849818 | 0.6332 | None | gnomAD-4.0.0 | 6.57324E-06 | |
14278 | 48 | K/T | 125 | None | 0.6332 | None | gnomAD-4.0.0 | 9.60257E-06 | |
14280 | 50 | D/E | 130 | rs760643071 | 0.7286 | None | gnomAD-2.1.1 | 1.07E-05 | |
14280 | 50 | D/E | 130 | rs760643071 | 0.7286 | None | gnomAD-3.1.2 | 1.31E-05 | |
14280 | 50 | D/E | 130 | rs760643071 | 0.7286 | None | gnomAD-4.0.0 | 1.59217E-06 | |
14280 | 50 | D/G | 130 | rs181902304 | 0.7286 | None | gnomAD-2.1.1 | 9.29E-05 | |
14280 | 50 | D/G | 130 | rs181902304 | 0.7286 | None | gnomAD-3.1.2 | 7.23E-05 | |
14280 | 50 | D/G | 130 | rs181902304 | 0.7286 | None | gnomAD-4.0.0 | 5.45471E-05 | |
14280 | 50 | D/V | 130 | rs181902304 | 0.7286 | None | gnomAD-3.1.2 | 6.57E-06 | |
14280 | 50 | D/V | 130 | rs181902304 | 0.7286 | None | 1000 genomes | 1.99681E-04 | |
14280 | 50 | D/V | 130 | rs181902304 | 0.7286 | None | gnomAD-4.0.0 | 6.56892E-06 | |
14282 | 52 | L/V | 134 | None | 0.4064 | None | gnomAD-4.0.0 | 3.1844E-06 | |
14283 | 53 | R/C | 135 | rs199684560 | 0.5053 | None | gnomAD-2.1.1 | 6.79E-05 | |
14283 | 53 | R/C | 135 | rs199684560 | 0.5053 | None | gnomAD-3.1.2 | 4.6E-05 | |
14283 | 53 | R/C | 135 | rs199684560 | 0.5053 | None | 1000 genomes | 1.99681E-04 | |
14283 | 53 | R/C | 135 | rs199684560 | 0.5053 | None | gnomAD-4.0.0 | 5.20691E-05 | |
14283 | 53 | R/H | 135 | rs767899169 | 0.5053 | None | gnomAD-2.1.1 | 3.62E-05 | |
14283 | 53 | R/P | 135 | None | 0.5053 | None | gnomAD-4.0.0 | 6.84398E-07 | |
14283 | 53 | R/S | 135 | None | 0.5053 | None | gnomAD-4.0.0 | 6.84414E-07 | |
14284 | 54 | R/C | 136 | rs760157467 | 0.1170 | None | gnomAD-2.1.1 | 1.61E-05 | |
14284 | 54 | R/C | 136 | rs760157467 | 0.1170 | None | gnomAD-4.0.0 | 6.84399E-06 | |
14284 | 54 | R/H | 136 | rs368572799 | 0.1170 | None | gnomAD-2.1.1 | 3.93E-05 | |
14284 | 54 | R/H | 136 | rs368572799 | 0.1170 | None | gnomAD-3.1.2 | 7.23E-05 | |
14284 | 54 | R/H | 136 | rs368572799 | 0.1170 | None | gnomAD-4.0.0 | 3.22356E-05 | |
14284 | 54 | R/L | 136 | rs368572799 | 0.1170 | None | gnomAD-2.1.1 | 3.19E-05 | |
14284 | 54 | R/L | 136 | rs368572799 | 0.1170 | None | gnomAD-3.1.2 | 6.58E-06 | |
14284 | 54 | R/L | 136 | rs368572799 | 0.1170 | None | gnomAD-4.0.0 | 1.23983E-06 | |
14285 | 55 | I/F | 137 | None | 0.1983 | None | gnomAD-4.0.0 | 1.59229E-06 | |
14285 | 55 | I/M | 137 | rs761517606 | 0.1983 | None | gnomAD-4.0.0 | 1.3688E-06 | |
14285 | 55 | I/N | 137 | None | 0.1983 | None | gnomAD-4.0.0 | 1.36879E-06 | |
14285 | 55 | I/V | 137 | rs771436214 | 0.1983 | None | gnomAD-2.1.1 | 1.21E-05 | |
14285 | 55 | I/V | 137 | rs771436214 | 0.1983 | None | gnomAD-4.0.0 | 4.77686E-06 | |
14289 | 59 | K/E | 141 | rs1387348110 | 0.5193 | None | gnomAD-2.1.1 | 4.03E-06 | |
14289 | 59 | K/E | 141 | rs1387348110 | 0.5193 | None | gnomAD-3.1.2 | 6.57E-06 | |
14289 | 59 | K/E | 141 | rs1387348110 | 0.5193 | None | gnomAD-4.0.0 | 5.12718E-06 | |
14291 | 61 | A/V | 144 | rs746486506 | 0.0913 | None | gnomAD-2.1.1 | 1.21E-05 | |
14291 | 61 | A/V | 144 | rs746486506 | 0.0913 | None | gnomAD-3.1.2 | 6.58E-06 | |
14291 | 61 | A/V | 144 | rs746486506 | 0.0913 | None | gnomAD-4.0.0 | 5.57948E-06 | |
14293 | 63 | L/I | 146 | None | 0.6745 | None | gnomAD-4.0.0 | 1.59237E-06 | |
14294 | 64 | K/R | 148 | None | 0.8319 | None | gnomAD-4.0.0 | 3.18461E-06 | |
14295 | 65 | D/G | 149 | None | 0.1303 | None | gnomAD-4.0.0 | 1.59229E-06 | |
14295 | 65 | D/H | 149 | rs1162989897 | 0.1303 | None | gnomAD-2.1.1 | 4.02E-06 | |
14295 | 65 | D/H | 149 | rs1162989897 | 0.1303 | None | gnomAD-4.0.0 | 1.59232E-06 | |
14296 | 66 | K/E | 151 | rs771834069 | 0.6183 | None | gnomAD-2.1.1 | 8.05E-06 | |
14296 | 66 | K/E | 151 | rs771834069 | 0.6183 | None | gnomAD-4.0.0 | 3.18462E-06 | |
14296 | 66 | K/N | 151 | rs1272371985 | 0.6183 | None | gnomAD-3.1.2 | 1.31E-05 | |
14296 | 66 | K/N | 151 | rs1272371985 | 0.6183 | None | gnomAD-4.0.0 | 2.47947E-06 | |
14297 | 67 | G/D | 152 | None | 0.1652 | None | gnomAD-4.0.0 | 6.84407E-07 | |
14298 | 68 | E/K | 153 | rs778634417 | 0.3148 | None | gnomAD-2.1.1 | 1.61E-05 | |
14298 | 68 | E/K | 153 | rs778634417 | 0.3148 | None | gnomAD-3.1.2 | 1.97E-05 | |
14298 | 68 | E/K | 153 | rs778634417 | 0.3148 | None | gnomAD-4.0.0 | 1.05379E-05 | |
14300 | 70 | V/L | 155 | rs757079194 | 0.1498 | None | gnomAD-2.1.1 | 4.02E-06 | |
14300 | 70 | V/L | 155 | rs757079194 | 0.1498 | None | gnomAD-4.0.0 | 1.59229E-06 | |
14301 | 71 | C/S | 156 | None | 0.0542 | None | gnomAD-4.0.0 | 1.36882E-06 | |
14301 | 71 | C/Y | 156 | rs777838603 | 0.0542 | None | gnomAD-2.1.1 | 4.02E-06 | |
14302 | 72 | D/G | 157 | None | 0.1841 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14302 | 72 | D/N | 157 | None | 0.1841 | None | gnomAD-4.0.0 | 1.59235E-06 | |
14304 | 74 | G/D | 159 | None | 0.5376 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14305 | 75 | T/I | 161 | None | 0.5956 | None | gnomAD-4.0.0 | 2.40064E-06 | |
14306 | 76 | D/E | 162 | rs537375897 | 0.2196 | None | gnomAD-2.1.1 | 8.04E-06 | |
14306 | 76 | D/E | 162 | rs537375897 | 0.2196 | None | gnomAD-4.0.0 | 2.73759E-06 | |
14307 | 77 | K/T | 163 | None | 0.4130 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14308 | 78 | T/I | 169 | None | 0.0898 | None | gnomAD-4.0.0 | 3.60097E-06 | |
14309 | 79 | K/E | 171 | rs908530219 | 0.4276 | None | gnomAD-2.1.1 | 4.02E-06 | |
14309 | 79 | K/E | 171 | rs908530219 | 0.4276 | None | gnomAD-4.0.0 | 7.9614E-06 | |
14309 | 79 | K/R | 171 | None | 0.4276 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14311 | 81 | N/D | 173 | rs767640666 | 0.4809 | None | gnomAD-2.1.1 | 4.02E-06 | |
14311 | 81 | N/D | 173 | rs767640666 | 0.4809 | None | gnomAD-3.1.2 | 6.57E-06 | |
14311 | 81 | N/D | 173 | rs767640666 | 0.4809 | None | gnomAD-4.0.0 | 4.95874E-06 | |
14311 | 81 | N/H | 173 | rs767640666 | 0.4809 | None | gnomAD-4.0.0 | 6.84396E-07 | |
14311 | 81 | N/K | 173 | None | 0.4809 | None | gnomAD-4.0.0 | 6.84396E-07 | |
14312 | 82 | V/I | 174 | rs794729429 | 0.1260 | None | gnomAD-2.1.1 | 4.02E-06 | |
14312 | 82 | V/I | 174 | rs794729429 | 0.1260 | None | gnomAD-3.1.2 | 6.57E-06 | |
14312 | 82 | V/I | 174 | rs794729429 | 0.1260 | None | gnomAD-4.0.0 | 1.11575E-05 | |
14313 | 83 | T/A | 175 | rs752143463 | 0.3858 | None | gnomAD-2.1.1 | 4.02E-06 | |
14313 | 83 | T/A | 175 | rs752143463 | 0.3858 | None | gnomAD-3.1.2 | 6.57E-06 | |
14313 | 83 | T/A | 175 | rs752143463 | 0.3858 | None | gnomAD-4.0.0 | 3.84533E-06 | |
14313 | 83 | T/S | 175 | None | 0.3858 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14314 | 84 | V/A | 176 | rs1317914021 | 0.1783 | None | gnomAD-2.1.1 | 4.02E-06 | |
14314 | 84 | V/A | 176 | rs1317914021 | 0.1783 | None | gnomAD-3.1.2 | 6.57E-06 | |
14314 | 84 | V/A | 176 | rs1317914021 | 0.1783 | None | gnomAD-4.0.0 | 1.85958E-06 | |
14314 | 84 | V/I | 176 | rs376881525 | 0.1783 | None | gnomAD-2.1.1 | 2.41E-05 | |
14314 | 84 | V/I | 176 | rs376881525 | 0.1783 | None | gnomAD-3.1.2 | 1.31E-05 | |
14314 | 84 | V/I | 176 | rs376881525 | 0.1783 | None | gnomAD-4.0.0 | 3.96707E-05 | |
14315 | 85 | E/Q | 177 | None | 0.6128 | None | gnomAD-4.0.0 | 1.59236E-06 | |
14316 | 86 | A/S | 178 | None | 0.4822 | None | gnomAD-4.0.0 | 3.42206E-06 | |
14316 | 86 | A/T | 178 | rs763386894 | 0.4822 | None | gnomAD-2.1.1 | 4.02E-06 | |
14316 | 86 | A/T | 178 | rs763386894 | 0.4822 | None | gnomAD-4.0.0 | 2.05323E-06 |