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P | C | D | P | P | G | Q | P | E | V | T | N | I | T | R | K | S | V | S | L | K | W | S | K | P | H | Y | D | G | G | A | K | I | T | G | Y | I | V | E | R | R | E | L | P | D | G | R | W | L | K | C | N | Y | T | N | I | Q | E | T | Y | F | E | V | T | E | L | T | E | D | Q | R | Y | E | F | R | V | F | A | R | N | A | A | D | S | V | S | E | P | S | E | S | T | G | P | I | I | V | K | D | D | V | E | P | P | R | V | M | M | D | V | K | F | R | D | V | I | V | V | K | A | G | E | V | L | K | I | N | A | D | I | A | G | R | P | L | P | V | I | S | W | A | K | D | G | I | E | I | E | E | R | A | R | T | E | I | I | S | T | D | N | H | T | L | L | T | V | K | D | C | I | R | R | D | T | G | Q | Y | V | L | T | L | K | N | V | A | G | T | R | S | V | A | V | N | C | K | V | L |
P | C | D | P | P | G | Q | P | E | V | T | N | I | T | R | K | S | V | S | L | K | W | S | K | P | H | Y | D | G | G | A | K | I | T | G | Y | I | V | E | R | R | E | L | P | D | G | R | W | L | K | C | N | Y | T | N | I | Q | E | T | Y | F | E | V | T | E | L | T | E | D | Q | R | Y | E | F | R | V | F | A | R | N | A | A | D | S | V | S | E | P | S | E | S | T | G | P | I | I | V | K | D | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
28252 | 1 | P/S | 1 | rs780908799 | 0.8257 | None | gnomAD-2.1.1 | 4.03E-06 | |
28252 | 1 | P/S | 1 | rs780908799 | 0.8257 | None | gnomAD-4.0.0 | 2.73681E-06 | |
28252 | 1 | P/T | 1 | rs780908799 | 0.8257 | None | gnomAD-2.1.1 | 4.03E-06 | |
28252 | 1 | P/T | 1 | rs780908799 | 0.8257 | None | gnomAD-3.1.2 | 1.31E-05 | |
28252 | 1 | P/T | 1 | rs780908799 | 0.8257 | None | gnomAD-4.0.0 | 1.31499E-05 | |
28253 | 2 | C/R | 2 | None | 0.1045 | None | gnomAD-4.0.0 | 1.36841E-06 | |
28253 | 2 | C/Y | 2 | rs754491290 | 0.1045 | None | gnomAD-2.1.1 | 8.05E-06 | |
28253 | 2 | C/Y | 2 | rs754491290 | 0.1045 | None | gnomAD-4.0.0 | 2.0526E-06 | |
28254 | 3 | D/N | 3 | None | 0.2940 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28255 | 4 | P/L | 4 | rs1703598147 | 0.3147 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28255 | 4 | P/S | 4 | rs1703599575 | 0.3147 | None | gnomAD-3.1.2 | 6.58E-06 | |
28255 | 4 | P/S | 4 | rs1703599575 | 0.3147 | None | gnomAD-4.0.0 | 6.5799E-06 | |
28256 | 5 | P/A | 5 | None | 0.1174 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28256 | 5 | P/S | 5 | None | 0.1174 | None | gnomAD-4.0.0 | 3.60097E-06 | |
28256 | 5 | P/T | 5 | None | 0.1174 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28259 | 8 | P/A | 9 | None | 0.1388 | None | gnomAD-4.0.0 | 6.842E-07 | |
28259 | 8 | P/L | 9 | None | 0.1388 | None | gnomAD-4.0.0 | 6.842E-07 | |
28259 | 8 | P/R | 9 | None | 0.1388 | None | gnomAD-4.0.0 | 1.3684E-06 | |
28259 | 8 | P/S | 9 | rs1264580282 | 0.1388 | None | gnomAD-2.1.1 | 4.02E-06 | |
28259 | 8 | P/S | 9 | rs1264580282 | 0.1388 | None | gnomAD-4.0.0 | 6.842E-07 | |
28259 | 8 | P/T | 9 | None | 0.1388 | None | gnomAD-4.0.0 | 6.842E-07 | |
28260 | 9 | E/D | 11 | rs370547473 | 0.7608 | None | gnomAD-2.1.1 | 4.02E-05 | |
28260 | 9 | E/D | 11 | rs370547473 | 0.7608 | None | gnomAD-3.1.2 | 9.2E-05 | |
28260 | 9 | E/D | 11 | rs370547473 | 0.7608 | None | gnomAD-4.0.0 | 1.79707E-05 | |
28262 | 11 | T/I | 13 | rs1703591532 | 0.4103 | None | gnomAD-3.1.2 | 6.58E-06 | |
28262 | 11 | T/I | 13 | rs1703591532 | 0.4103 | None | gnomAD-4.0.0 | 6.57514E-06 | |
28263 | 12 | N/D | 14 | rs762665595 | 0.5555 | None | gnomAD-4.0.0 | 3.60097E-06 | |
28263 | 12 | N/Y | 14 | rs762665595 | 0.5555 | None | gnomAD-2.1.1 | 4.02E-06 | |
28264 | 13 | I/N | 15 | None | 0.1789 | None | gnomAD-4.0.0 | 1.59116E-06 | |
28265 | 14 | T/K | 16 | rs376874908 | 0.2759 | None | gnomAD-4.0.0 | 1.5912E-06 | |
28268 | 17 | S/A | 19 | None | 0.1419 | None | gnomAD-4.0.0 | 1.59116E-06 | |
28268 | 17 | S/L | 19 | None | 0.1419 | None | gnomAD-4.0.0 | 1.59118E-06 | |
28271 | 20 | L/F | 22 | None | 0.0908 | None | gnomAD-4.0.0 | 2.40064E-06 | |
28272 | 21 | K/Q | 23 | rs1703583612 | 0.6109 | None | gnomAD-3.1.2 | 6.57E-06 | |
28272 | 21 | K/Q | 23 | rs1703583612 | 0.6109 | None | gnomAD-4.0.0 | 4.95747E-06 | |
28273 | 22 | W/C | 24 | rs72648222 | 0.1142 | None | gnomAD-4.0.0 | 2.40064E-06 | |
28274 | 23 | S/C | 25 | rs1393654285 | 0.4683 | None | gnomAD-2.1.1 | 4.02E-06 | |
28274 | 23 | S/C | 25 | rs1393654285 | 0.4683 | None | gnomAD-4.0.0 | 1.5912E-06 | |
28275 | 24 | K/N | 26 | rs765009136 | 0.7443 | None | gnomAD-2.1.1 | 4.02E-06 | |
28275 | 24 | K/N | 26 | rs765009136 | 0.7443 | None | gnomAD-4.0.0 | 1.3684E-06 | |
28275 | 24 | K/Q | 26 | None | 0.7443 | None | gnomAD-4.0.0 | 1.20033E-06 | |
28276 | 25 | P/L | 27 | None | 0.1485 | None | gnomAD-4.0.0 | 1.59123E-06 | |
28278 | 27 | Y/D | 29 | rs1336515508 | 0.4512 | None | gnomAD-2.1.1 | 4.02E-06 | |
28278 | 27 | Y/D | 29 | rs1336515508 | 0.4512 | None | gnomAD-3.1.2 | 6.57E-06 | |
28278 | 27 | Y/D | 29 | rs1336515508 | 0.4512 | None | gnomAD-4.0.0 | 2.56221E-06 | |
28280 | 29 | G/D | 31 | None | 0.2174 | None | gnomAD-4.0.0 | 1.20032E-05 | |
28280 | 29 | G/V | 31 | rs771907926 | 0.2174 | None | gnomAD-4.0.0 | 1.80048E-05 | |
28282 | 31 | A/P | 33 | None | 0.1925 | None | gnomAD-4.0.0 | 6.84212E-07 | |
28282 | 31 | A/T | 33 | rs1703576117 | 0.1925 | None | gnomAD-3.1.2 | 6.57E-06 | |
28282 | 31 | A/T | 33 | rs1703576117 | 0.1925 | None | gnomAD-4.0.0 | 1.23941E-06 | |
28283 | 32 | K/N | 34 | None | 0.7556 | None | gnomAD-4.0.0 | 1.59124E-06 | |
28283 | 32 | K/R | 34 | rs545841306 | 0.7556 | None | gnomAD-2.1.1 | 3.19E-05 | |
28283 | 32 | K/R | 34 | rs545841306 | 0.7556 | None | gnomAD-3.1.2 | 4.6E-05 | |
28283 | 32 | K/R | 34 | rs545841306 | 0.7556 | None | 1000 genomes | 1.99681E-04 | |
28283 | 32 | K/R | 34 | rs545841306 | 0.7556 | None | gnomAD-4.0.0 | 8.11853E-06 | |
28284 | 33 | I/T | 35 | rs1462392007 | 0.1547 | None | gnomAD-4.0.0 | 1.59128E-06 | |
28284 | 33 | I/V | 35 | rs1408628454 | 0.1547 | None | gnomAD-4.0.0 | 3.18249E-06 | |
28285 | 34 | T/I | 36 | None | 0.3004 | None | gnomAD-4.0.0 | 1.59127E-06 | |
28285 | 34 | T/S | 36 | rs577272800 | 0.3004 | None | gnomAD-2.1.1 | 4.02E-06 | |
28285 | 34 | T/S | 36 | rs577272800 | 0.3004 | None | gnomAD-3.1.2 | 6.57E-06 | |
28285 | 34 | T/S | 36 | rs577272800 | 0.3004 | None | 1000 genomes | 1.99681E-04 | |
28285 | 34 | T/S | 36 | rs577272800 | 0.3004 | None | gnomAD-4.0.0 | 6.56659E-06 | |
28286 | 35 | G/R | 37 | rs553949797 | 0.0930 | None | gnomAD-2.1.1 | 2.5E-05 | |
28286 | 35 | G/R | 37 | rs553949797 | 0.0930 | None | gnomAD-3.1.2 | 5.26E-05 | |
28286 | 35 | G/R | 37 | rs553949797 | 0.0930 | None | 1000 genomes | 1.99681E-04 | |
28286 | 35 | G/R | 37 | rs553949797 | 0.0930 | None | gnomAD-4.0.0 | 2.04952E-05 | |
28287 | 36 | Y/F | 38 | rs1559296734 | 0.1114 | None | gnomAD-4.0.0 | 3.42107E-06 | |
28287 | 36 | Y/H | 38 | rs1406227768 | 0.1114 | None | gnomAD-4.0.0 | 1.59128E-06 | |
28287 | 36 | Y/N | 38 | None | 0.1114 | None | gnomAD-4.0.0 | 1.59128E-06 | |
28288 | 37 | I/L | 39 | None | 0.1798 | None | gnomAD-4.0.0 | 6.84213E-07 | |
28288 | 37 | I/N | 39 | None | 0.1798 | None | gnomAD-4.0.0 | 6.84225E-07 | |
28288 | 37 | I/T | 39 | None | 0.1798 | None | gnomAD-4.0.0 | 4.10535E-06 | |
28288 | 37 | I/V | 39 | rs775883370 | 0.1798 | None | gnomAD-2.1.1 | 4.02E-06 | |
28288 | 37 | I/V | 39 | rs775883370 | 0.1798 | None | gnomAD-4.0.0 | 8.89476E-06 | |
28289 | 38 | V/A | 40 | rs534008710 | 0.0828 | None | gnomAD-2.1.1 | 1.21E-05 | |
28289 | 38 | V/A | 40 | rs534008710 | 0.0828 | None | 1000 genomes | 1.99681E-04 | |
28289 | 38 | V/A | 40 | rs534008710 | 0.0828 | None | gnomAD-4.0.0 | 4.78954E-06 | |
28290 | 39 | E/Q | 41 | None | 0.1272 | None | gnomAD-4.0.0 | 1.36846E-06 | |
28291 | 40 | R/C | 42 | rs192152102 | 0.2941 | None | gnomAD-2.1.1 | 7.14276E-04 | |
28291 | 40 | R/C | 42 | rs192152102 | 0.2941 | None | gnomAD-3.1.2 | 4.34033E-04 | |
28291 | 40 | R/C | 42 | rs192152102 | 0.2941 | None | 1000 genomes | 3.99361E-04 | |
28291 | 40 | R/C | 42 | rs192152102 | 0.2941 | None | gnomAD-4.0.0 | 5.85006E-04 | |
28291 | 40 | R/H | 42 | rs774924903 | 0.2941 | None | gnomAD-2.1.1 | 3.21E-05 | |
28291 | 40 | R/H | 42 | rs774924903 | 0.2941 | None | gnomAD-3.1.2 | 1.97E-05 | |
28291 | 40 | R/H | 42 | rs774924903 | 0.2941 | None | gnomAD-4.0.0 | 3.40863E-05 | |
28291 | 40 | R/S | 42 | None | 0.2941 | None | gnomAD-4.0.0 | 6.84238E-07 | |
28293 | 42 | E/G | 44 | rs879026651 | 0.2735 | None | gnomAD-4.0.0 | 1.59137E-06 | |
28294 | 43 | L/V | 50 | rs747855990 | 0.2283 | None | gnomAD-2.1.1 | 4.02E-06 | |
28294 | 43 | L/V | 50 | rs747855990 | 0.2283 | None | gnomAD-4.0.0 | 1.59139E-06 | |
28295 | 44 | P/L | 54 | rs1414095201 | 0.6901 | None | gnomAD-2.1.1 | 3.19E-05 | |
28295 | 44 | P/L | 54 | rs1414095201 | 0.6901 | None | gnomAD-3.1.2 | 6.58E-06 | |
28295 | 44 | P/L | 54 | rs1414095201 | 0.6901 | None | gnomAD-4.0.0 | 6.57523E-06 | |
28297 | 46 | G/D | 63 | rs1200686560 | 0.3038 | None | gnomAD-2.1.1 | 4.02E-06 | |
28297 | 46 | G/D | 63 | rs1200686560 | 0.3038 | None | gnomAD-4.0.0 | 1.59146E-06 | |
28297 | 46 | G/S | 63 | rs780963952 | 0.3038 | None | gnomAD-2.1.1 | 4.02E-06 | |
28297 | 46 | G/S | 63 | rs780963952 | 0.3038 | None | gnomAD-4.0.0 | 2.40064E-06 | |
28298 | 47 | R/L | 64 | rs187270666 | 0.7277 | None | gnomAD-3.1.2 | 6.57E-06 | |
28298 | 47 | R/L | 64 | rs187270666 | 0.7277 | None | gnomAD-4.0.0 | 1.23952E-06 | |
28298 | 47 | R/Q | 64 | None | 0.7277 | None | gnomAD-2.1.1 | 1.44735E-03 | |
28298 | 47 | R/Q | 64 | None | 0.7277 | None | gnomAD-3.1.2 | 1.1505E-03 | |
28298 | 47 | R/Q | 64 | None | 0.7277 | None | 1000 genomes | 5.99042E-04 | |
28298 | 47 | R/Q | 64 | None | 0.7277 | None | gnomAD-4.0.0 | 6.59377E-04 | |
28298 | 47 | R/W | 64 | rs779581886 | 0.7277 | None | gnomAD-2.1.1 | 2.01E-05 | |
28298 | 47 | R/W | 64 | rs779581886 | 0.7277 | None | gnomAD-3.1.2 | 6.58E-06 | |
28298 | 47 | R/W | 64 | rs779581886 | 0.7277 | None | gnomAD-4.0.0 | 9.9164E-06 | |
28300 | 49 | L/P | 66 | rs1703551325 | 0.4128 | None | gnomAD-3.1.2 | 6.57E-06 | |
28300 | 49 | L/P | 66 | rs1703551325 | 0.4128 | None | gnomAD-4.0.0 | 6.57246E-06 | |
28301 | 50 | K/R | 67 | rs779856458 | 0.2878 | None | gnomAD-2.1.1 | 4.03E-06 | |
28301 | 50 | K/R | 67 | rs779856458 | 0.2878 | None | gnomAD-4.0.0 | 1.59164E-06 | |
28301 | 50 | K/T | 67 | None | 0.2878 | None | gnomAD-4.0.0 | 1.59164E-06 | |
28302 | 51 | C/S | 68 | None | 0.1616 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28303 | 52 | N/Y | 69 | rs1314927590 | 0.1179 | None | gnomAD-2.1.1 | 4.03E-06 | |
28303 | 52 | N/Y | 69 | rs1314927590 | 0.1179 | None | gnomAD-3.1.2 | 6.57E-06 | |
28303 | 52 | N/Y | 69 | rs1314927590 | 0.1179 | None | gnomAD-4.0.0 | 6.5722E-06 | |
28305 | 54 | T/I | 72 | None | 0.7891 | None | gnomAD-4.0.0 | 2.73733E-06 | |
28305 | 54 | T/S | 72 | None | 0.7891 | None | gnomAD-4.0.0 | 6.84332E-07 | |
28306 | 55 | N/D | 75 | rs758424234 | 0.4968 | None | gnomAD-2.1.1 | 7.65E-05 | |
28306 | 55 | N/D | 75 | rs758424234 | 0.4968 | None | gnomAD-4.0.0 | 3.48997E-05 | |
28306 | 55 | N/H | 75 | None | 0.4968 | None | gnomAD-4.0.0 | 6.84308E-07 | |
28307 | 56 | I/T | 77 | rs1224788527 | 0.0830 | None | gnomAD-3.1.2 | 1.31E-05 | |
28307 | 56 | I/T | 77 | rs1224788527 | 0.0830 | None | gnomAD-4.0.0 | 3.71872E-06 | |
28307 | 56 | I/V | 77 | None | 0.0830 | None | gnomAD-4.0.0 | 1.20033E-06 | |
28308 | 57 | Q/K | 83 | rs794729516 | 0.7576 | None | gnomAD-2.1.1 | 4.03E-06 | |
28308 | 57 | Q/K | 83 | rs794729516 | 0.7576 | None | gnomAD-4.0.0 | 1.09496E-05 | |
28308 | 57 | Q/P | 83 | rs201674674 | 0.7576 | None | gnomAD-2.1.1 | 2.03909E-04 | |
28308 | 57 | Q/P | 83 | rs201674674 | 0.7576 | None | gnomAD-3.1.2 | 2.23446E-04 | |
28308 | 57 | Q/P | 83 | rs201674674 | 0.7576 | None | 1000 genomes | 1.99681E-04 | |
28308 | 57 | Q/P | 83 | rs201674674 | 0.7576 | None | gnomAD-4.0.0 | 2.60909E-04 | |
28309 | 58 | E/K | 88 | rs1383001734 | 0.6143 | None | gnomAD-2.1.1 | 4.03E-06 | |
28310 | 59 | T/I | 89 | rs765062342 | 0.2451 | None | gnomAD-2.1.1 | 8.06E-06 | |
28310 | 59 | T/I | 89 | rs765062342 | 0.2451 | None | gnomAD-4.0.0 | 3.18382E-06 | |
28311 | 60 | Y/C | 90 | None | 0.3542 | None | gnomAD-4.0.0 | 1.20033E-06 | |
28312 | 61 | F/C | 91 | rs1703534719 | 0.1716 | None | gnomAD-4.0.0 | 1.59178E-06 | |
28313 | 62 | E/G | 92 | rs896539539 | 0.3542 | None | gnomAD-4.0.0 | 1.59184E-06 | |
28314 | 63 | V/A | 93 | rs1442636431 | 0.1100 | None | gnomAD-2.1.1 | 4.03E-06 | |
28314 | 63 | V/A | 93 | rs1442636431 | 0.1100 | None | gnomAD-4.0.0 | 1.36862E-06 | |
28314 | 63 | V/E | 93 | rs1442636431 | 0.1100 | None | gnomAD-4.0.0 | 6.84309E-07 | |
28314 | 63 | V/I | 93 | rs754089695 | 0.1100 | None | gnomAD-2.1.1 | 4.03E-06 | |
28314 | 63 | V/I | 93 | rs754089695 | 0.1100 | None | gnomAD-4.0.0 | 5.47458E-06 | |
28315 | 64 | T/S | 94 | rs1369979989 | 0.4602 | None | gnomAD-2.1.1 | 4.03E-06 | |
28315 | 64 | T/S | 94 | rs1369979989 | 0.4602 | None | gnomAD-3.1.2 | 1.31E-05 | |
28315 | 64 | T/S | 94 | rs1369979989 | 0.4602 | None | gnomAD-4.0.0 | 7.43744E-06 | |
28316 | 65 | E/K | 96 | None | 0.8318 | None | gnomAD-4.0.0 | 6.84317E-07 | |
28316 | 65 | E/Q | 96 | rs183238138 | 0.8318 | None | gnomAD-2.1.1 | 3.58E-05 | |
28316 | 65 | E/Q | 96 | rs183238138 | 0.8318 | None | gnomAD-3.1.2 | 9.86E-05 | |
28316 | 65 | E/Q | 96 | rs183238138 | 0.8318 | None | 1000 genomes | 1.99681E-04 | |
28316 | 65 | E/Q | 96 | rs183238138 | 0.8318 | None | gnomAD-4.0.0 | 1.79727E-05 | |
28317 | 66 | L/F | 97 | None | 0.1105 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28317 | 66 | L/I | 97 | rs1167807939 | 0.1105 | None | gnomAD-3.1.2 | 6.57E-06 | |
28317 | 66 | L/I | 97 | rs1167807939 | 0.1105 | None | gnomAD-4.0.0 | 6.57324E-06 | |
28319 | 68 | E/A | 99 | rs903892310 | 0.3700 | None | gnomAD-2.1.1 | 4.03E-06 | |
28319 | 68 | E/A | 99 | rs903892310 | 0.3700 | None | gnomAD-4.0.0 | 6.36685E-06 | |
28319 | 68 | E/D | 99 | None | 0.3700 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28319 | 68 | E/K | 99 | None | 0.3700 | None | gnomAD-4.0.0 | 1.59175E-06 | |
28320 | 69 | D/N | 100 | rs767491713 | 0.7084 | None | gnomAD-2.1.1 | 8.06E-06 | |
28320 | 69 | D/N | 100 | rs767491713 | 0.7084 | None | gnomAD-4.0.0 | 5.47424E-06 | |
28321 | 70 | Q/R | 102 | rs760149145 | 0.2435 | None | gnomAD-2.1.1 | 8.06E-06 | |
28321 | 70 | Q/R | 102 | rs760149145 | 0.2435 | None | gnomAD-4.0.0 | 3.42139E-06 | |
28322 | 71 | R/C | 103 | rs774978209 | 0.4454 | None | gnomAD-2.1.1 | 2.42E-05 | |
28322 | 71 | R/C | 103 | rs774978209 | 0.4454 | None | gnomAD-3.1.2 | 3.94E-05 | |
28322 | 71 | R/C | 103 | rs774978209 | 0.4454 | None | gnomAD-4.0.0 | 2.72708E-05 | |
28322 | 71 | R/H | 103 | rs373532064 | 0.4454 | None | gnomAD-2.1.1 | 5.36E-05 | |
28322 | 71 | R/H | 103 | rs373532064 | 0.4454 | None | gnomAD-3.1.2 | 8.54E-05 | |
28322 | 71 | R/H | 103 | rs373532064 | 0.4454 | None | gnomAD-4.0.0 | 1.13414E-04 | |
28323 | 72 | Y/F | 104 | rs1285180382 | 0.0978 | None | gnomAD-2.1.1 | 2.82E-05 | |
28323 | 72 | Y/F | 104 | rs1285180382 | 0.0978 | None | gnomAD-3.1.2 | 1.64286E-04 | |
28323 | 72 | Y/F | 104 | rs1285180382 | 0.0978 | None | gnomAD-4.0.0 | 2.04511E-05 | |
28324 | 73 | E/K | 105 | None | 0.1252 | None | gnomAD-4.0.0 | 1.59155E-06 | |
28326 | 75 | R/G | 107 | rs749633038 | 0.1222 | None | gnomAD-2.1.1 | 4.03E-06 | |
28326 | 75 | R/G | 107 | rs749633038 | 0.1222 | None | gnomAD-4.0.0 | 6.84265E-07 | |
28326 | 75 | R/P | 107 | rs200843338 | 0.1222 | None | gnomAD-2.1.1 | 4.03E-06 | |
28326 | 75 | R/P | 107 | rs200843338 | 0.1222 | None | gnomAD-4.0.0 | 1.36851E-06 | |
28326 | 75 | R/Q | 107 | rs200843338 | 0.1222 | None | gnomAD-2.1.1 | 2.43132E-04 | |
28326 | 75 | R/Q | 107 | rs200843338 | 0.1222 | None | gnomAD-3.1.2 | 1.31496E-04 | |
28326 | 75 | R/Q | 107 | rs200843338 | 0.1222 | None | 1000 genomes | 1.99681E-04 | |
28326 | 75 | R/Q | 107 | rs200843338 | 0.1222 | None | gnomAD-4.0.0 | 2.00167E-04 | |
28326 | 75 | R/W | 107 | rs749633038 | 0.1222 | None | gnomAD-2.1.1 | 3.22E-05 | |
28326 | 75 | R/W | 107 | rs749633038 | 0.1222 | None | gnomAD-3.1.2 | 1.97E-05 | |
28326 | 75 | R/W | 107 | rs749633038 | 0.1222 | None | gnomAD-4.0.0 | 2.16923E-05 | |
28327 | 76 | V/I | 108 | None | 0.0680 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28328 | 77 | F/L | 109 | rs1703507521 | 0.1306 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28329 | 78 | A/E | 110 | rs1208499717 | 0.0831 | None | gnomAD-4.0.0 | 3.18282E-06 | |
28329 | 78 | A/S | 110 | None | 0.0831 | None | gnomAD-4.0.0 | 1.59137E-06 | |
28329 | 78 | A/T | 110 | rs1330177891 | 0.0831 | None | gnomAD-2.1.1 | 3.19E-05 | |
28329 | 78 | A/T | 110 | rs1330177891 | 0.0831 | None | gnomAD-3.1.2 | 6.57E-06 | |
28329 | 78 | A/T | 110 | rs1330177891 | 0.0831 | None | gnomAD-4.0.0 | 6.57479E-06 | |
28332 | 81 | A/V | 113 | None | 0.4095 | None | gnomAD-4.0.0 | 3.60097E-06 | |
28333 | 82 | A/T | 114 | None | 0.4659 | None | gnomAD-3.1.2 | 6.57E-06 | |
28333 | 82 | A/T | 114 | None | 0.4659 | None | gnomAD-4.0.0 | 6.57419E-06 | |
28333 | 82 | A/V | 114 | rs886042586 | 0.4659 | None | gnomAD-2.1.1 | 1.07E-05 | |
28333 | 82 | A/V | 114 | rs886042586 | 0.4659 | None | gnomAD-3.1.2 | 1.97E-05 | |
28333 | 82 | A/V | 114 | rs886042586 | 0.4659 | None | gnomAD-4.0.0 | 6.19718E-06 | |
28334 | 83 | D/N | 115 | None | 0.8419 | None | gnomAD-4.0.0 | 6.84207E-07 | |
28334 | 83 | D/Y | 115 | None | 0.8419 | None | gnomAD-4.0.0 | 6.84207E-07 | |
28335 | 84 | S/A | 116 | rs147895770 | 0.2647 | None | gnomAD-2.1.1 | 4.02E-06 | |
28335 | 84 | S/A | 116 | rs147895770 | 0.2647 | None | gnomAD-3.1.2 | 4.6E-05 | |
28335 | 84 | S/A | 116 | rs147895770 | 0.2647 | None | 1000 genomes | 1.99681E-04 | |
28335 | 84 | S/A | 116 | rs147895770 | 0.2647 | None | gnomAD-4.0.0 | 4.21361E-05 | |
28335 | 84 | S/L | 116 | rs1703498485 | 0.2647 | None | gnomAD-3.1.2 | 6.58E-06 | |
28335 | 84 | S/L | 116 | rs1703498485 | 0.2647 | None | gnomAD-4.0.0 | 6.57505E-06 | |
28336 | 85 | V/G | 117 | None | 0.3294 | None | gnomAD-4.0.0 | 3.60097E-06 | |
28336 | 85 | V/L | 117 | rs375593513 | 0.3294 | None | gnomAD-2.1.1 | 8.05E-06 | |
28336 | 85 | V/L | 117 | rs375593513 | 0.3294 | None | gnomAD-3.1.2 | 1.31E-05 | |
28336 | 85 | V/L | 117 | rs375593513 | 0.3294 | None | gnomAD-4.0.0 | 3.09842E-05 | |
28337 | 86 | S/C | 118 | None | 0.0938 | None | gnomAD-4.0.0 | 1.59119E-06 | |
28337 | 86 | S/G | 118 | rs1703494767 | 0.0938 | None | gnomAD-3.1.2 | 6.57E-06 | |
28337 | 86 | S/G | 118 | rs1703494767 | 0.0938 | None | gnomAD-4.0.0 | 6.57073E-06 | |
28337 | 86 | S/I | 118 | None | 0.0938 | None | gnomAD-4.0.0 | 2.73678E-06 | |
28337 | 86 | S/T | 118 | None | 0.0938 | None | gnomAD-4.0.0 | 6.84194E-07 | |
28338 | 87 | E/D | 119 | None | 0.5952 | None | gnomAD-4.0.0 | 1.59116E-06 | |
28342 | 91 | S/P | 123 | None | 0.2245 | None | gnomAD-4.0.0 | 1.59116E-06 | |
28343 | 92 | T/N | 124 | None | 0.2275 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28343 | 92 | T/S | 124 | rs1703488961 | 0.2275 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28344 | 93 | G/R | 125 | rs757065143 | 0.2514 | None | gnomAD-2.1.1 | 4.02E-06 | |
28344 | 93 | G/R | 125 | rs757065143 | 0.2514 | None | gnomAD-3.1.2 | 6.57E-06 | |
28344 | 93 | G/R | 125 | rs757065143 | 0.2514 | None | gnomAD-4.0.0 | 6.57307E-06 | |
28345 | 94 | P/L | 126 | rs1453883691 | 0.5106 | None | gnomAD-2.1.1 | 1.21E-05 | |
28345 | 94 | P/L | 126 | rs1453883691 | 0.5106 | None | gnomAD-4.0.0 | 6.36456E-06 | |
28346 | 95 | I/L | 127 | rs912296403 | 0.2071 | None | gnomAD-3.1.2 | 6.57E-06 | |
28346 | 95 | I/L | 127 | rs912296403 | 0.2071 | None | gnomAD-4.0.0 | 2.02992E-06 | |
28346 | 95 | I/N | 127 | None | 0.2071 | None | gnomAD-4.0.0 | 1.59113E-06 | |
28347 | 96 | I/R | 129 | rs397517731 | 0.4527 | None | gnomAD-2.1.1 | 4.02E-06 | |
28347 | 96 | I/R | 129 | rs397517731 | 0.4527 | None | gnomAD-3.1.2 | 1.31E-05 | |
28347 | 96 | I/R | 129 | rs397517731 | 0.4527 | None | gnomAD-4.0.0 | 1.85899E-06 | |
28347 | 96 | I/T | 129 | rs397517731 | 0.4527 | None | gnomAD-2.1.1 | 1.61E-05 | |
28347 | 96 | I/T | 129 | rs397517731 | 0.4527 | None | gnomAD-3.1.2 | 6.57E-06 | |
28347 | 96 | I/T | 129 | rs397517731 | 0.4527 | None | gnomAD-4.0.0 | 2.04489E-05 | |
28347 | 96 | I/V | 129 | rs1553563774 | 0.4527 | None | gnomAD-4.0.0 | 2.05256E-06 | |
28348 | 97 | V/I | 130 | rs546413805 | 0.0739 | None | gnomAD-2.1.1 | 4.02E-06 | |
28348 | 97 | V/I | 130 | rs546413805 | 0.0739 | None | gnomAD-3.1.2 | 1.31E-05 | |
28348 | 97 | V/I | 130 | rs546413805 | 0.0739 | None | 1000 genomes | 3.99361E-04 | |
28348 | 97 | V/I | 130 | rs546413805 | 0.0739 | None | gnomAD-4.0.0 | 3.09812E-06 | |
28350 | 99 | D/N | 132 | rs1337835797 | 0.3304 | None | gnomAD-2.1.1 | 4.02E-06 | |
28350 | 99 | D/N | 132 | rs1337835797 | 0.3304 | None | gnomAD-3.1.2 | 6.57E-06 | |
28350 | 99 | D/N | 132 | rs1337835797 | 0.3304 | None | gnomAD-4.0.0 | 6.57168E-06 |