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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
6199 | 1 | P/A | 1 | None | 0.0902 | None | gnomAD-4.0.0 | 1.59492E-06 | |
6199 | 1 | P/L | 1 | rs758776829 | 0.0902 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6200 | 2 | T/I | 2 | rs1046417798 | 0.4094 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6202 | 4 | I/M | 4 | rs1041345186 | 0.4090 | None | gnomAD-3.1.2 | 6.57E-06 | |
6202 | 4 | I/M | 4 | rs1041345186 | 0.4090 | None | gnomAD-4.0.0 | 6.57324E-06 | |
6202 | 4 | I/N | 4 | None | 0.4090 | None | gnomAD-4.0.0 | 6.84698E-07 | |
6202 | 4 | I/T | 4 | rs1298665270 | 0.4090 | None | gnomAD-2.1.1 | 8.07E-06 | |
6202 | 4 | I/T | 4 | rs1298665270 | 0.4090 | None | gnomAD-3.1.2 | 6.57E-06 | |
6202 | 4 | I/T | 4 | rs1298665270 | 0.4090 | None | gnomAD-4.0.0 | 6.20091E-06 | |
6202 | 4 | I/V | 4 | None | 0.4090 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6203 | 5 | R/G | 5 | None | 0.2308 | None | gnomAD-4.0.0 | 1.59392E-06 | |
6204 | 6 | E/D | 7 | None | 0.5723 | None | gnomAD-4.0.0 | 6.8457E-07 | |
6204 | 6 | E/G | 7 | None | 0.5723 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6204 | 6 | E/K | 7 | rs949942051 | 0.5723 | None | gnomAD-4.0.0 | 1.36917E-06 | |
6206 | 8 | K/N | 9 | None | 0.5704 | None | gnomAD-4.0.0 | 6.8456E-07 | |
6207 | 9 | P/A | 11 | rs755803926 | 0.3456 | None | gnomAD-2.1.1 | 4.03E-06 | |
6207 | 9 | P/A | 11 | rs755803926 | 0.3456 | None | gnomAD-4.0.0 | 1.5931E-06 | |
6207 | 9 | P/S | 11 | None | 0.3456 | None | gnomAD-4.0.0 | 3.18619E-06 | |
6208 | 10 | V/L | 13 | rs759379332 | 0.1859 | None | gnomAD-2.1.1 | 4.03E-06 | |
6208 | 10 | V/L | 13 | rs759379332 | 0.1859 | None | gnomAD-4.0.0 | 1.59263E-06 | |
6208 | 10 | V/M | 13 | rs759379332 | 0.1859 | None | gnomAD-2.1.1 | 1.21E-05 | |
6208 | 10 | V/M | 13 | rs759379332 | 0.1859 | None | gnomAD-4.0.0 | 1.2741E-05 | |
6209 | 11 | E/K | 14 | rs751253663 | 0.1834 | None | gnomAD-2.1.1 | 4.03E-06 | |
6209 | 11 | E/K | 14 | rs751253663 | 0.1834 | None | gnomAD-4.0.0 | 1.59212E-06 | |
6209 | 11 | E/Q | 14 | rs751253663 | 0.1834 | None | gnomAD-2.1.1 | 4.03E-06 | |
6209 | 11 | E/Q | 14 | rs751253663 | 0.1834 | None | gnomAD-4.0.0 | 1.59212E-06 | |
6210 | 12 | V/I | 16 | rs766360972 | 0.3480 | None | gnomAD-2.1.1 | 1.07E-05 | |
6210 | 12 | V/I | 16 | rs766360972 | 0.3480 | None | gnomAD-3.1.2 | 3.29E-05 | |
6210 | 12 | V/I | 16 | rs766360972 | 0.3480 | None | gnomAD-4.0.0 | 6.08971E-06 | |
6211 | 13 | V/A | 18 | rs773463426 | 0.7347 | None | gnomAD-2.1.1 | 4.03E-06 | |
6211 | 13 | V/A | 18 | rs773463426 | 0.7347 | None | gnomAD-4.0.0 | 1.59202E-06 | |
6211 | 13 | V/I | 18 | rs1236160546 | 0.7347 | None | gnomAD-2.1.1 | 3.18E-05 | |
6211 | 13 | V/I | 18 | rs1236160546 | 0.7347 | None | gnomAD-3.1.2 | 1.31E-05 | |
6211 | 13 | V/I | 18 | rs1236160546 | 0.7347 | None | gnomAD-4.0.0 | 1.31447E-05 | |
6213 | 15 | Y/C | 24 | rs1489995255 | 0.7696 | None | gnomAD-4.0.0 | 1.59189E-06 | |
6213 | 15 | Y/F | 24 | rs1489995255 | 0.7696 | None | gnomAD-2.1.1 | 4.03E-06 | |
6213 | 15 | Y/F | 24 | rs1489995255 | 0.7696 | None | gnomAD-4.0.0 | 1.59189E-06 | |
6215 | 17 | D/A | 26 | rs1267800654 | 0.4556 | None | gnomAD-2.1.1 | 8.05E-06 | |
6215 | 17 | D/A | 26 | rs1267800654 | 0.4556 | None | gnomAD-4.0.0 | 3.18369E-06 | |
6216 | 18 | V/M | 28 | rs369242073 | 0.2129 | None | gnomAD-2.1.1 | 8.05E-06 | |
6216 | 18 | V/M | 28 | rs369242073 | 0.2129 | None | gnomAD-3.1.2 | 2.63E-05 | |
6216 | 18 | V/M | 28 | rs369242073 | 0.2129 | None | gnomAD-4.0.0 | 1.54952E-05 | |
6217 | 19 | E/G | 29 | None | 0.5024 | None | gnomAD-4.0.0 | 1.36862E-06 | |
6218 | 20 | L/R | 30 | rs727505193 | 0.1539 | None | gnomAD-2.1.1 | 1.43E-05 | |
6218 | 20 | L/R | 30 | rs727505193 | 0.1539 | None | gnomAD-3.1.2 | 4.6E-05 | |
6218 | 20 | L/R | 30 | rs727505193 | 0.1539 | None | gnomAD-4.0.0 | 1.11563E-05 | |
6219 | 21 | E/D | 31 | rs1282711943 | 0.2198 | None | gnomAD-2.1.1 | 4.03E-06 | |
6219 | 21 | E/D | 31 | rs1282711943 | 0.2198 | None | gnomAD-4.0.0 | 6.84296E-07 | |
6219 | 21 | E/K | 31 | rs72648948 | 0.2198 | None | gnomAD-2.1.1 | 5.72E-05 | |
6219 | 21 | E/K | 31 | rs72648948 | 0.2198 | None | gnomAD-3.1.2 | 2.16917E-04 | |
6219 | 21 | E/K | 31 | rs72648948 | 0.2198 | None | gnomAD-4.0.0 | 3.03693E-05 | |
6219 | 21 | E/Q | 31 | rs72648948 | 0.2198 | None | gnomAD-2.1.1 | 3.19E-05 | |
6219 | 21 | E/Q | 31 | rs72648948 | 0.2198 | None | gnomAD-3.1.2 | 1.97E-05 | |
6219 | 21 | E/Q | 31 | rs72648948 | 0.2198 | None | gnomAD-4.0.0 | 3.71869E-06 | |
6219 | 21 | E/V | 31 | rs2080005563 | 0.2198 | None | gnomAD-4.0.0 | 1.59174E-06 | |
6220 | 22 | C/G | 33 | rs935844203 | 0.0775 | None | gnomAD-4.0.0 | 6.84301E-07 | |
6220 | 22 | C/R | 33 | None | 0.0775 | None | gnomAD-4.0.0 | 1.3686E-06 | |
6220 | 22 | C/S | 33 | rs191692293 | 0.0775 | None | gnomAD-2.1.1 | 5.28881E-04 | |
6220 | 22 | C/S | 33 | rs191692293 | 0.0775 | None | gnomAD-3.1.2 | 1.72212E-03 | |
6220 | 22 | C/S | 33 | rs191692293 | 0.0775 | None | 1000 genomes | 1.99681E-03 | |
6220 | 22 | C/S | 33 | rs191692293 | 0.0775 | None | gnomAD-4.0.0 | 6.84301E-07 | |
6220 | 22 | C/Y | 33 | rs191692293 | 0.0775 | None | gnomAD-4.0.0 | 6.84301E-07 | |
6221 | 23 | E/D | 34 | rs369544339 | 0.2520 | None | gnomAD-2.1.1 | 8.58E-05 | |
6221 | 23 | E/D | 34 | rs369544339 | 0.2520 | None | gnomAD-3.1.2 | 1.05162E-04 | |
6221 | 23 | E/D | 34 | rs369544339 | 0.2520 | None | 1000 genomes | 1.99681E-04 | |
6221 | 23 | E/D | 34 | rs369544339 | 0.2520 | None | gnomAD-4.0.0 | 1.11549E-04 | |
6221 | 23 | E/G | 34 | rs1365356147 | 0.2520 | None | gnomAD-4.0.0 | 1.5917E-06 | |
6222 | 24 | V/A | 35 | None | 0.0807 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6223 | 25 | T/M | 38 | rs794727817 | 0.3040 | None | gnomAD-2.1.1 | 8.05E-06 | |
6223 | 25 | T/M | 38 | rs794727817 | 0.3040 | None | gnomAD-4.0.0 | 1.50547E-05 | |
6224 | 26 | G/E | 40 | rs1168353457 | 0.1122 | None | gnomAD-2.1.1 | 8.05E-06 | |
6224 | 26 | G/E | 40 | rs1168353457 | 0.1122 | None | gnomAD-4.0.0 | 1.59173E-06 | |
6224 | 26 | G/R | 40 | rs2154307306 | 0.1122 | None | gnomAD-4.0.0 | 1.59172E-06 | |
6225 | 27 | T/A | 41 | rs794727818 | 0.2073 | None | gnomAD-4.0.0 | 1.36859E-06 | |
6225 | 27 | T/K | 41 | None | 0.2073 | None | gnomAD-4.0.0 | 1.59172E-06 | |
6225 | 27 | T/S | 41 | None | 0.2073 | None | gnomAD-4.0.0 | 6.84296E-07 | |
6226 | 28 | P/H | 42 | rs746345160 | 0.3295 | None | gnomAD-3.1.2 | 1.97E-05 | |
6226 | 28 | P/H | 42 | rs746345160 | 0.3295 | None | gnomAD-4.0.0 | 1.9728E-05 | |
6226 | 28 | P/L | 42 | rs746345160 | 0.3295 | None | gnomAD-2.1.1 | 8.05E-06 | |
6226 | 28 | P/L | 42 | rs746345160 | 0.3295 | None | gnomAD-3.1.2 | 6.58E-06 | |
6226 | 28 | P/L | 42 | rs746345160 | 0.3295 | None | gnomAD-4.0.0 | 8.05745E-06 | |
6226 | 28 | P/S | 42 | rs1466849790 | 0.3295 | None | gnomAD-2.1.1 | 4.02E-06 | |
6226 | 28 | P/S | 42 | rs1466849790 | 0.3295 | None | gnomAD-4.0.0 | 2.05288E-06 | |
6226 | 28 | P/T | 42 | rs1466849790 | 0.3295 | None | gnomAD-4.0.0 | 6.84292E-07 | |
6227 | 29 | P/L | 43 | rs376846228 | 0.7609 | None | gnomAD-2.1.1 | 1.43E-05 | |
6227 | 29 | P/L | 43 | rs376846228 | 0.7609 | None | gnomAD-3.1.2 | 3.29E-05 | |
6227 | 29 | P/L | 43 | rs376846228 | 0.7609 | None | gnomAD-4.0.0 | 8.05746E-06 | |
6228 | 30 | F/S | 44 | rs1192303175 | 0.1666 | None | gnomAD-2.1.1 | 4.03E-06 | |
6228 | 30 | F/S | 44 | rs1192303175 | 0.1666 | None | gnomAD-4.0.0 | 1.59172E-06 | |
6229 | 31 | E/D | 45 | rs376583582 | 0.7847 | None | gnomAD-3.1.2 | 1.31E-05 | |
6229 | 31 | E/D | 45 | rs376583582 | 0.7847 | None | gnomAD-4.0.0 | 3.84422E-06 | |
6229 | 31 | E/G | 45 | None | 0.7847 | None | gnomAD-4.0.0 | 1.36858E-06 | |
6230 | 32 | V/I | 46 | None | 0.2792 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6231 | 33 | T/A | 47 | None | 0.4446 | None | gnomAD-4.0.0 | 1.36857E-06 | |
6233 | 35 | L/P | 49 | None | 0.1933 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6234 | 36 | K/Q | 50 | None | 0.1548 | None | gnomAD-4.0.0 | 1.59168E-06 | |
6235 | 37 | N/K | 51 | rs766055257 | 0.6600 | None | gnomAD-2.1.1 | 4.03E-06 | |
6235 | 37 | N/K | 51 | rs766055257 | 0.6600 | None | gnomAD-3.1.2 | 6.58E-06 | |
6235 | 37 | N/K | 51 | rs766055257 | 0.6600 | None | gnomAD-4.0.0 | 3.71877E-06 | |
6235 | 37 | N/S | 51 | rs2079993234 | 0.6600 | None | gnomAD-3.1.2 | 6.57E-06 | |
6235 | 37 | N/S | 51 | rs2079993234 | 0.6600 | None | gnomAD-4.0.0 | 2.56265E-06 | |
6235 | 37 | N/Y | 51 | None | 0.6600 | None | gnomAD-4.0.0 | 2.05287E-06 | |
6236 | 38 | N/D | 52 | rs758455641 | 0.9155 | None | gnomAD-2.1.1 | 2.01E-05 | |
6236 | 38 | N/D | 52 | rs758455641 | 0.9155 | None | gnomAD-3.1.2 | 6.57E-06 | |
6236 | 38 | N/D | 52 | rs758455641 | 0.9155 | None | gnomAD-4.0.0 | 1.02511E-05 | |
6237 | 39 | R/G | 55 | None | 0.7523 | None | gnomAD-4.0.0 | 1.59166E-06 | |
6237 | 39 | R/W | 55 | rs750368911 | 0.7523 | None | gnomAD-2.1.1 | 1.21E-05 | |
6237 | 39 | R/W | 55 | rs750368911 | 0.7523 | None | gnomAD-4.0.0 | 6.36663E-06 | |
6239 | 41 | I/M | 58 | None | 0.1372 | None | gnomAD-4.0.0 | 1.59165E-06 | |
6239 | 41 | I/S | 58 | rs1221710663 | 0.1372 | None | gnomAD-2.1.1 | 4.03E-06 | |
6239 | 41 | I/S | 58 | rs1221710663 | 0.1372 | None | gnomAD-4.0.0 | 1.59163E-06 | |
6240 | 42 | R/L | 59 | rs761993856 | 0.6154 | None | gnomAD-2.1.1 | 4.03E-06 | |
6240 | 42 | R/L | 59 | rs761993856 | 0.6154 | None | gnomAD-4.0.0 | 6.84279E-07 | |
6240 | 42 | R/Q | 59 | rs761993856 | 0.6154 | None | gnomAD-2.1.1 | 1.32317E-04 | |
6240 | 42 | R/Q | 59 | rs761993856 | 0.6154 | None | gnomAD-3.1.2 | 3.29E-05 | |
6240 | 42 | R/Q | 59 | rs761993856 | 0.6154 | None | gnomAD-4.0.0 | 4.21451E-05 | |
6241 | 43 | S/G | 70 | None | 0.5601 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6241 | 43 | S/N | 70 | None | 0.5601 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6241 | 43 | S/R | 70 | rs1015857991 | 0.5601 | None | gnomAD-2.1.1 | 4.03E-06 | |
6241 | 43 | S/R | 70 | rs1015857991 | 0.5601 | None | gnomAD-3.1.2 | 6.58E-06 | |
6241 | 43 | S/R | 70 | rs1015857991 | 0.5601 | None | gnomAD-4.0.0 | 4.33843E-06 | |
6242 | 44 | S/G | 73 | None | 0.2993 | None | gnomAD-4.0.0 | 2.40064E-06 | |
6243 | 45 | K/E | 102 | rs764402049 | 1.1166 | None | gnomAD-2.1.1 | 4.03E-06 | |
6243 | 45 | K/E | 102 | rs764402049 | 1.1166 | None | gnomAD-3.1.2 | 6.57E-06 | |
6243 | 45 | K/E | 102 | rs764402049 | 1.1166 | None | gnomAD-4.0.0 | 5.12524E-06 | |
6244 | 46 | K/E | 115 | None | 0.2209 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6244 | 46 | K/N | 115 | None | 0.2209 | None | gnomAD-4.0.0 | 1.5916E-06 | |
6244 | 46 | K/R | 115 | rs1448766260 | 0.2209 | None | gnomAD-2.1.1 | 4.03E-06 | |
6244 | 46 | K/R | 115 | rs1448766260 | 0.2209 | None | gnomAD-4.0.0 | 1.5916E-06 | |
6246 | 48 | T/A | 122 | rs1553920950 | 0.4242 | None | gnomAD-4.0.0 | 3.60097E-06 | |
6246 | 48 | T/I | 122 | rs1252010867 | 0.4242 | None | gnomAD-2.1.1 | 3.19E-05 | |
6246 | 48 | T/I | 122 | rs1252010867 | 0.4242 | None | gnomAD-3.1.2 | 1.31E-05 | |
6246 | 48 | T/I | 122 | rs1252010867 | 0.4242 | None | gnomAD-4.0.0 | 9.13489E-06 | |
6247 | 49 | L/W | 123 | rs2079986312 | 0.2884 | None | gnomAD-3.1.2 | 6.57E-06 | |
6247 | 49 | L/W | 123 | rs2079986312 | 0.2884 | None | gnomAD-4.0.0 | 2.56276E-06 | |
6249 | 51 | D/E | 127 | rs774843545 | 0.8565 | None | gnomAD-2.1.1 | 2.02E-05 | |
6249 | 51 | D/E | 127 | rs774843545 | 0.8565 | None | gnomAD-4.0.0 | 3.42138E-06 | |
6249 | 51 | D/N | 127 | rs201263441 | 0.8565 | None | gnomAD-2.1.1 | 3.722E-04 | |
6249 | 51 | D/N | 127 | rs201263441 | 0.8565 | None | gnomAD-3.1.2 | 2.10396E-04 | |
6249 | 51 | D/N | 127 | rs201263441 | 0.8565 | None | gnomAD-4.0.0 | 1.87172E-04 | |
6250 | 52 | R/K | 130 | rs952849958 | 0.7711 | None | gnomAD-2.1.1 | 4.03E-06 | |
6250 | 52 | R/K | 130 | rs952849958 | 0.7711 | None | gnomAD-3.1.2 | 6.57E-06 | |
6250 | 52 | R/K | 130 | rs952849958 | 0.7711 | None | gnomAD-4.0.0 | 4.95807E-06 | |
6253 | 55 | V/G | 135 | rs1236936612 | 0.2107 | None | gnomAD-2.1.1 | 4.03E-06 | |
6253 | 55 | V/G | 135 | rs1236936612 | 0.2107 | None | gnomAD-4.0.0 | 1.59159E-06 | |
6253 | 55 | V/L | 135 | rs754852812 | 0.2107 | None | gnomAD-4.0.0 | 2.25809E-05 | |
6255 | 57 | N/D | 137 | rs2079983036 | 0.1962 | None | gnomAD-3.1.2 | 6.57E-06 | |
6255 | 57 | N/D | 137 | rs2079983036 | 0.1962 | None | gnomAD-4.0.0 | 2.5627E-06 | |
6255 | 57 | N/K | 137 | None | 0.1962 | None | gnomAD-4.0.0 | 6.8428E-07 | |
6256 | 58 | L/F | 138 | rs747713653 | 0.0778 | None | gnomAD-3.1.2 | 6.58E-06 | |
6256 | 58 | L/F | 138 | rs747713653 | 0.0778 | None | gnomAD-4.0.0 | 1.85934E-06 | |
6256 | 58 | L/I | 138 | rs747713653 | 0.0778 | None | gnomAD-2.1.1 | 4.03E-06 | |
6256 | 58 | L/I | 138 | rs747713653 | 0.0778 | None | gnomAD-4.0.0 | 6.84281E-07 | |
6256 | 58 | L/R | 138 | rs780526976 | 0.0778 | None | gnomAD-2.1.1 | 3.58E-05 | |
6256 | 58 | L/R | 138 | rs780526976 | 0.0778 | None | gnomAD-3.1.2 | 1.97E-05 | |
6256 | 58 | L/R | 138 | rs780526976 | 0.0778 | None | gnomAD-4.0.0 | 4.74189E-05 | |
6257 | 59 | H/R | 139 | rs371299041 | 0.2648 | None | gnomAD-2.1.1 | 1.07E-05 | |
6257 | 59 | H/R | 139 | rs371299041 | 0.2648 | None | gnomAD-3.1.2 | 1.31E-05 | |
6257 | 59 | H/R | 139 | rs371299041 | 0.2648 | None | gnomAD-4.0.0 | 1.17755E-05 | |
6257 | 59 | H/Y | 139 | None | 0.2648 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6258 | 60 | I/K | 140 | rs746617599 | 0.0788 | None | gnomAD-2.1.1 | 8.07E-06 | |
6259 | 61 | T/A | 141 | rs780049500 | 0.3664 | None | gnomAD-2.1.1 | 1.00818E-04 | |
6259 | 61 | T/A | 141 | rs780049500 | 0.3664 | None | gnomAD-3.1.2 | 6.57E-06 | |
6259 | 61 | T/A | 141 | rs780049500 | 0.3664 | None | gnomAD-4.0.0 | 3.65663E-05 | |
6259 | 61 | T/N | 141 | rs72648949 | 0.3664 | None | gnomAD-2.1.1 | 4.03E-06 | |
6259 | 61 | T/N | 141 | rs72648949 | 0.3664 | None | gnomAD-4.0.0 | 6.84286E-07 | |
6259 | 61 | T/S | 141 | rs72648949 | 0.3664 | None | gnomAD-2.1.1 | 3.08967E-03 | |
6259 | 61 | T/S | 141 | rs72648949 | 0.3664 | None | gnomAD-3.1.2 | 2.62369E-03 | |
6259 | 61 | T/S | 141 | rs72648949 | 0.3664 | None | 1000 genomes | 5.99042E-04 | |
6259 | 61 | T/S | 141 | rs72648949 | 0.3664 | None | gnomAD-4.0.0 | 2.74608E-03 | |
6260 | 62 | K/N | 143 | None | 0.8595 | None | gnomAD-4.0.0 | 1.59169E-06 | |
6260 | 62 | K/Q | 143 | rs375652574 | 0.8595 | None | gnomAD-2.1.1 | 2.51E-05 | |
6260 | 62 | K/Q | 143 | rs375652574 | 0.8595 | None | gnomAD-3.1.2 | 4.6E-05 | |
6260 | 62 | K/Q | 143 | rs375652574 | 0.8595 | None | gnomAD-4.0.0 | 5.70167E-05 | |
6261 | 63 | C/R | 144 | rs1438614038 | 0.2546 | None | gnomAD-3.1.2 | 1.31E-05 | |
6261 | 63 | C/R | 144 | rs1438614038 | 0.2546 | None | gnomAD-4.0.0 | 3.84435E-06 | |
6261 | 63 | C/Y | 144 | rs1060500581 | 0.2546 | None | gnomAD-2.1.1 | 8.07E-06 | |
6261 | 63 | C/Y | 144 | rs1060500581 | 0.2546 | None | gnomAD-4.0.0 | 4.77515E-06 | |
6262 | 64 | D/G | 145 | rs757214692 | 0.2851 | None | gnomAD-2.1.1 | 1.61E-05 | |
6262 | 64 | D/G | 145 | rs757214692 | 0.2851 | None | gnomAD-3.1.2 | 1.32E-05 | |
6262 | 64 | D/G | 145 | rs757214692 | 0.2851 | None | gnomAD-4.0.0 | 2.56301E-05 | |
6263 | 65 | P/A | 146 | rs753985729 | 0.6853 | None | gnomAD-4.0.0 | 6.843E-07 | |
6263 | 65 | P/L | 146 | None | 0.6853 | None | gnomAD-4.0.0 | 1.59172E-06 | |
6263 | 65 | P/S | 146 | rs753985729 | 0.6853 | None | gnomAD-2.1.1 | 8.07E-06 | |
6263 | 65 | P/S | 146 | rs753985729 | 0.6853 | None | gnomAD-4.0.0 | 2.0529E-06 | |
6265 | 67 | D/G | 149 | rs1403981596 | 0.1161 | None | gnomAD-2.1.1 | 4.03E-06 | |
6265 | 67 | D/G | 149 | rs1403981596 | 0.1161 | None | gnomAD-4.0.0 | 1.59169E-06 | |
6265 | 67 | D/H | 149 | rs764050491 | 0.1161 | None | gnomAD-4.0.0 | 1.5917E-06 | |
6266 | 68 | T/A | 151 | rs761009610 | 0.5934 | None | gnomAD-2.1.1 | 8.07E-06 | |
6266 | 68 | T/A | 151 | rs761009610 | 0.5934 | None | gnomAD-3.1.2 | 1.31E-05 | |
6266 | 68 | T/A | 151 | rs761009610 | 0.5934 | None | gnomAD-4.0.0 | 7.68805E-06 | |
6266 | 68 | T/I | 151 | None | 0.5934 | None | gnomAD-4.0.0 | 1.59174E-06 | |
6268 | 70 | E/V | 153 | rs1378963436 | 0.6158 | None | gnomAD-2.1.1 | 4.03E-06 | |
6268 | 70 | E/V | 153 | rs1378963436 | 0.6158 | None | gnomAD-4.0.0 | 1.59178E-06 | |
6269 | 71 | Y/C | 154 | None | 0.1419 | None | gnomAD-4.0.0 | 1.36863E-06 | |
6270 | 72 | Q/P | 155 | None | 0.2908 | None | gnomAD-4.0.0 | 1.59194E-06 | |
6270 | 72 | Q/R | 155 | None | 0.2908 | None | gnomAD-4.0.0 | 1.59194E-06 | |
6271 | 73 | C/G | 156 | rs2079970402 | 0.0717 | None | gnomAD-4.0.0 | 1.59192E-06 | |
6271 | 73 | C/Y | 156 | None | 0.0717 | None | gnomAD-4.0.0 | 1.59205E-06 | |
6272 | 74 | I/L | 157 | rs1385000092 | 0.3133 | None | gnomAD-2.1.1 | 4.03E-06 | |
6272 | 74 | I/L | 157 | rs1385000092 | 0.3133 | None | gnomAD-4.0.0 | 4.77594E-06 | |
6272 | 74 | I/T | 157 | rs1274096400 | 0.3133 | None | gnomAD-2.1.1 | 3.19E-05 | |
6272 | 74 | I/T | 157 | rs1274096400 | 0.3133 | None | gnomAD-3.1.2 | 6.57E-06 | |
6272 | 74 | I/T | 157 | rs1274096400 | 0.3133 | None | gnomAD-4.0.0 | 6.57177E-06 | |
6272 | 74 | I/V | 157 | None | 0.3133 | None | gnomAD-4.0.0 | 1.59198E-06 | |
6273 | 75 | V/L | 158 | None | 0.0826 | None | gnomAD-4.0.0 | 4.79096E-06 | |
6274 | 76 | S/P | 159 | None | 0.2552 | None | gnomAD-4.0.0 | 2.05339E-06 | |
6275 | 77 | N/S | 161 | rs184412722 | 0.1555 | None | gnomAD-2.1.1 | 3.51379E-03 | |
6275 | 77 | N/S | 161 | rs184412722 | 0.1555 | None | gnomAD-3.1.2 | 1.8139E-03 | |
6275 | 77 | N/S | 161 | rs184412722 | 0.1555 | None | 1000 genomes | 5.99042E-03 | |
6275 | 77 | N/S | 161 | rs184412722 | 0.1555 | None | gnomAD-4.0.0 | 2.22775E-03 | |
6278 | 80 | G/S | 164 | rs397517488 | 0.2195 | None | gnomAD-2.1.1 | 1.79E-05 | |
6278 | 80 | G/S | 164 | rs397517488 | 0.2195 | None | gnomAD-3.1.2 | 6.57E-06 | |
6278 | 80 | G/S | 164 | rs397517488 | 0.2195 | None | gnomAD-4.0.0 | 1.61299E-05 | |
6279 | 81 | S/R | 165 | rs776251068 | 0.5796 | None | gnomAD-2.1.1 | 8.08E-06 | |
6279 | 81 | S/R | 165 | rs776251068 | 0.5796 | None | gnomAD-3.1.2 | 6.57E-06 | |
6279 | 81 | S/R | 165 | rs776251068 | 0.5796 | None | gnomAD-4.0.0 | 3.85259E-06 | |
6280 | 82 | C/S | 166 | rs768034029 | 0.1398 | None | gnomAD-2.1.1 | 4.05E-06 | |
6280 | 82 | C/S | 166 | rs768034029 | 0.1398 | None | gnomAD-4.0.0 | 1.59696E-06 | |
6280 | 82 | C/Y | 166 | rs768034029 | 0.1398 | None | gnomAD-3.1.2 | 6.57E-06 | |
6280 | 82 | C/Y | 166 | rs768034029 | 0.1398 | None | gnomAD-4.0.0 | 6.57298E-06 | |
6282 | 84 | C/F | 169 | rs2079961331 | 0.1155 | None | gnomAD-3.1.2 | 6.57E-06 | |
6282 | 84 | C/F | 169 | rs2079961331 | 0.1155 | None | gnomAD-4.0.0 | 2.0299E-06 | |
6282 | 84 | C/R | 169 | None | 0.1155 | None | gnomAD-4.0.0 | 3.60097E-06 | |
6283 | 85 | S/G | 171 | rs779861459 | 0.3280 | None | gnomAD-2.1.1 | 2.16E-05 | |
6283 | 85 | S/G | 171 | rs779861459 | 0.3280 | None | gnomAD-3.1.2 | 4.6E-05 | |
6283 | 85 | S/G | 171 | rs779861459 | 0.3280 | None | gnomAD-4.0.0 | 7.44794E-06 | |
6283 | 85 | S/I | 171 | None | 0.3280 | None | gnomAD-4.0.0 | 6.85547E-07 | |
6283 | 85 | S/N | 171 | rs1283369258 | 0.3280 | None | gnomAD-4.0.0 | 2.05664E-06 | |
6283 | 85 | S/R | 171 | None | 0.3280 | None | gnomAD-4.0.0 | 1.37078E-06 | |
6284 | 86 | T/A | 172 | None | 0.2968 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6284 | 86 | T/I | 172 | None | 0.2968 | None | gnomAD-4.0.0 | 1.59887E-06 | |
6285 | 87 | R/I | 173 | None | 0.7805 | None | gnomAD-4.0.0 | 6.85758E-07 | |
6285 | 87 | R/S | 173 | None | 0.7805 | None | gnomAD-4.0.0 | 1.59963E-06 | |
6285 | 87 | R/T | 173 | rs2079958809 | 0.7805 | None | gnomAD-3.1.2 | 6.57E-06 | |
6285 | 87 | R/T | 173 | rs2079958809 | 0.7805 | None | gnomAD-4.0.0 | 7.4516E-06 | |
6286 | 88 | V/A | 174 | rs372581135 | 0.3841 | None | gnomAD-2.1.1 | 4.14E-06 | |
6286 | 88 | V/A | 174 | rs372581135 | 0.3841 | None | gnomAD-4.0.0 | 3.24726E-06 | |
6286 | 88 | V/I | 174 | rs149131555 | 0.3841 | None | gnomAD-2.1.1 | 5.87146E-04 | |
6286 | 88 | V/I | 174 | rs149131555 | 0.3841 | None | gnomAD-3.1.2 | 1.77464E-03 | |
6286 | 88 | V/I | 174 | rs149131555 | 0.3841 | None | 1000 genomes | 3.39457E-03 | |
6286 | 88 | V/I | 174 | rs149131555 | 0.3841 | None | gnomAD-4.0.0 | 3.30432E-04 | |
6287 | 89 | A/T | 175 | None | 0.3557 | None | gnomAD-4.0.0 | 1.64281E-06 | |
6288 | 90 | L/Q | 177 | rs1381105393 | 0.8510 | None | gnomAD-2.1.1 | 4.25E-06 | |
6288 | 90 | L/Q | 177 | rs1381105393 | 0.8510 | None | gnomAD-4.0.0 | 3.30111E-06 | |
6288 | 90 | L/V | 177 | rs745682900 | 0.8510 | None | gnomAD-2.1.1 | 4.21E-06 | |
6288 | 90 | L/V | 177 | rs745682900 | 0.8510 | None | gnomAD-4.0.0 | 1.64361E-06 |