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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
8456 | 1 | P/L | 1 | rs1308450887 | 0.1195 | None | gnomAD-3.1.2 | 6.57E-06 | |
8456 | 1 | P/L | 1 | rs1308450887 | 0.1195 | None | gnomAD-4.0.0 | 6.57099E-06 | |
8456 | 1 | P/R | 1 | None | 0.1195 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8456 | 1 | P/T | 1 | None | 0.1195 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8460 | 5 | L/Q | 5 | None | 0.5421 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8462 | 7 | P/H | 8 | rs1249885767 | 0.2230 | None | gnomAD-2.1.1 | 1.43E-05 | |
8462 | 7 | P/H | 8 | rs1249885767 | 0.2230 | None | gnomAD-3.1.2 | 1.97E-05 | |
8462 | 7 | P/H | 8 | rs1249885767 | 0.2230 | None | gnomAD-4.0.0 | 4.96379E-06 | |
8462 | 7 | P/S | 8 | None | 0.2230 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8463 | 8 | V/I | 9 | rs767424522 | 0.7834 | None | gnomAD-2.1.1 | 4.03E-06 | |
8463 | 8 | V/I | 9 | rs767424522 | 0.7834 | None | gnomAD-4.0.0 | 1.59345E-06 | |
8465 | 10 | V/G | 13 | None | 0.3168 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8466 | 11 | D/E | 14 | rs72648986 | 0.6905 | None | gnomAD-2.1.1 | 1.10534E-02 | |
8466 | 11 | D/E | 14 | rs72648986 | 0.6905 | None | gnomAD-3.1.2 | 2.39604E-02 | |
8466 | 11 | D/E | 14 | rs72648986 | 0.6905 | None | 1000 genomes | 2.8754E-02 | |
8466 | 11 | D/E | 14 | rs72648986 | 0.6905 | None | gnomAD-4.0.0 | 6.60199E-03 | |
8466 | 11 | D/G | 14 | rs773229351 | 0.6905 | None | gnomAD-2.1.1 | 7.15E-06 | |
8466 | 11 | D/G | 14 | rs773229351 | 0.6905 | None | gnomAD-3.1.2 | 1.31E-05 | |
8466 | 11 | D/G | 14 | rs773229351 | 0.6905 | None | gnomAD-4.0.0 | 5.12636E-06 | |
8466 | 11 | D/H | 14 | rs372994306 | 0.6905 | None | gnomAD-2.1.1 | 2.82E-05 | |
8466 | 11 | D/H | 14 | rs372994306 | 0.6905 | None | gnomAD-3.1.2 | 1.31E-05 | |
8466 | 11 | D/H | 14 | rs372994306 | 0.6905 | None | gnomAD-4.0.0 | 2.29344E-05 | |
8468 | 13 | A/V | 18 | rs762161074 | 0.2783 | None | gnomAD-2.1.1 | 4.02E-06 | |
8468 | 13 | A/V | 18 | rs762161074 | 0.2783 | None | gnomAD-4.0.0 | 1.59207E-06 | |
8469 | 14 | L/F | 23 | None | 0.3881 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8470 | 15 | G/A | 24 | None | 0.1924 | None | gnomAD-4.0.0 | 1.59189E-06 | |
8472 | 17 | S/G | 26 | rs2077634946 | 0.4293 | None | gnomAD-4.0.0 | 6.84306E-07 | |
8472 | 17 | S/N | 26 | None | 0.4293 | None | gnomAD-4.0.0 | 6.8431E-07 | |
8472 | 17 | S/R | 26 | None | 0.4293 | None | gnomAD-4.0.0 | 6.84306E-07 | |
8472 | 17 | S/T | 26 | rs374912661 | 0.4293 | None | gnomAD-2.1.1 | 4.42E-05 | |
8472 | 17 | S/T | 26 | rs374912661 | 0.4293 | None | gnomAD-3.1.2 | 6.57E-06 | |
8472 | 17 | S/T | 26 | rs374912661 | 0.4293 | None | gnomAD-4.0.0 | 2.23117E-05 | |
8473 | 18 | G/S | 28 | rs769092741 | 0.2693 | None | gnomAD-2.1.1 | 4.02E-06 | |
8473 | 18 | G/S | 28 | rs769092741 | 0.2693 | None | gnomAD-4.0.0 | 7.95902E-06 | |
8474 | 19 | T/S | 29 | None | 0.3169 | None | gnomAD-4.0.0 | 1.5918E-06 | |
8475 | 20 | F/I | 30 | rs772111560 | 0.1168 | None | gnomAD-4.0.0 | 1.1633E-05 | |
8476 | 21 | K/T | 31 | None | 0.5991 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8478 | 23 | H/Q | 34 | None | 0.1947 | None | gnomAD-4.0.0 | 6.84279E-07 | |
8478 | 23 | H/R | 34 | rs747367057 | 0.1947 | None | gnomAD-2.1.1 | 4.02E-06 | |
8478 | 23 | H/R | 34 | rs747367057 | 0.1947 | None | gnomAD-4.0.0 | 1.59165E-06 | |
8479 | 24 | V/I | 35 | rs990182590 | 0.0861 | None | gnomAD-3.1.2 | 1.97E-05 | |
8479 | 24 | V/I | 35 | rs990182590 | 0.0861 | None | gnomAD-4.0.0 | 1.97148E-05 | |
8483 | 28 | A/T | 42 | rs1156463241 | 0.5443 | None | gnomAD-2.1.1 | 3.18E-05 | |
8483 | 28 | A/T | 42 | rs1156463241 | 0.5443 | None | gnomAD-3.1.2 | 6.57E-06 | |
8483 | 28 | A/T | 42 | rs1156463241 | 0.5443 | None | gnomAD-4.0.0 | 3.09871E-06 | |
8484 | 29 | P/Q | 43 | None | 0.7787 | None | gnomAD-4.0.0 | 4.77487E-06 | |
8485 | 30 | I/L | 44 | None | 0.1532 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8485 | 30 | I/V | 44 | rs1560628327 | 0.1532 | None | gnomAD-3.1.2 | 6.57E-06 | |
8485 | 30 | I/V | 44 | rs1560628327 | 0.1532 | None | gnomAD-4.0.0 | 1.3194E-05 | |
8487 | 32 | I/V | 46 | rs1368912492 | 0.1879 | None | gnomAD-4.0.0 | 4.80129E-06 | |
8489 | 34 | W/C | 48 | None | 0.1523 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8489 | 34 | W/R | 48 | rs1478462166 | 0.1523 | None | gnomAD-2.1.1 | 4.02E-06 | |
8490 | 35 | A/S | 49 | None | 0.1230 | None | gnomAD-4.0.0 | 3.42136E-06 | |
8490 | 35 | A/T | 49 | rs1411592951 | 0.1230 | None | gnomAD-2.1.1 | 4.02E-06 | |
8490 | 35 | A/T | 49 | rs1411592951 | 0.1230 | None | gnomAD-4.0.0 | 1.36854E-06 | |
8491 | 36 | K/R | 50 | None | 0.1015 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8492 | 37 | D/A | 51 | None | 0.4494 | None | gnomAD-4.0.0 | 6.84268E-07 | |
8492 | 37 | D/E | 51 | rs777349143 | 0.4494 | None | gnomAD-2.1.1 | 4.02E-06 | |
8492 | 37 | D/E | 51 | rs777349143 | 0.4494 | None | gnomAD-3.1.2 | 1.31E-05 | |
8492 | 37 | D/E | 51 | rs777349143 | 0.4494 | None | gnomAD-4.0.0 | 5.57758E-06 | |
8492 | 37 | D/G | 51 | None | 0.4494 | None | gnomAD-4.0.0 | 6.84268E-07 | |
8492 | 37 | D/N | 51 | rs770655555 | 0.4494 | None | gnomAD-2.1.1 | 4.02E-06 | |
8492 | 37 | D/N | 51 | rs770655555 | 0.4494 | None | gnomAD-4.0.0 | 1.36854E-06 | |
8492 | 37 | D/Y | 51 | rs770655555 | 0.4494 | None | gnomAD-3.1.2 | 6.57E-06 | |
8492 | 37 | D/Y | 51 | rs770655555 | 0.4494 | None | gnomAD-4.0.0 | 6.57073E-06 | |
8493 | 38 | N/I | 52 | None | 0.9685 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8493 | 38 | N/K | 52 | None | 0.9685 | None | gnomAD-4.0.0 | 1.5916E-06 | |
8494 | 39 | R/Q | 55 | rs201418615 | 0.7661 | None | gnomAD-2.1.1 | 2.03323E-04 | |
8494 | 39 | R/Q | 55 | rs201418615 | 0.7661 | None | gnomAD-3.1.2 | 5.38921E-04 | |
8494 | 39 | R/Q | 55 | rs201418615 | 0.7661 | None | 1000 genomes | 7.98722E-04 | |
8494 | 39 | R/Q | 55 | rs201418615 | 0.7661 | None | gnomAD-4.0.0 | 1.13405E-04 | |
8495 | 40 | E/G | 56 | rs747674081 | 0.4982 | None | gnomAD-2.1.1 | 4.02E-06 | |
8495 | 40 | E/G | 56 | rs747674081 | 0.4982 | None | gnomAD-3.1.2 | 6.57E-06 | |
8495 | 40 | E/G | 56 | rs747674081 | 0.4982 | None | gnomAD-4.0.0 | 6.5703E-06 | |
8495 | 40 | E/V | 56 | rs747674081 | 0.4982 | None | gnomAD-2.1.1 | 1.61E-05 | |
8495 | 40 | E/V | 56 | rs747674081 | 0.4982 | None | gnomAD-4.0.0 | 6.36626E-06 | |
8496 | 41 | I/M | 58 | rs1220776486 | 0.1315 | None | gnomAD-2.1.1 | 8.03E-06 | |
8496 | 41 | I/M | 58 | rs1220776486 | 0.1315 | None | gnomAD-4.0.0 | 4.77479E-06 | |
8496 | 41 | I/T | 58 | rs781171748 | 0.1315 | None | gnomAD-2.1.1 | 4.02E-06 | |
8496 | 41 | I/T | 58 | rs781171748 | 0.1315 | None | gnomAD-4.0.0 | 1.59158E-06 | |
8496 | 41 | I/V | 58 | None | 0.1315 | None | gnomAD-4.0.0 | 1.36853E-06 | |
8497 | 42 | R/C | 59 | rs369517119 | 0.7452 | None | gnomAD-2.1.1 | 3.21E-05 | |
8497 | 42 | R/C | 59 | rs369517119 | 0.7452 | None | gnomAD-3.1.2 | 6.57E-06 | |
8497 | 42 | R/C | 59 | rs369517119 | 0.7452 | None | gnomAD-4.0.0 | 1.11553E-05 | |
8497 | 42 | R/H | 59 | rs149855485 | 0.7452 | None | gnomAD-2.1.1 | 3.44631E-03 | |
8497 | 42 | R/H | 59 | rs149855485 | 0.7452 | None | gnomAD-3.1.2 | 1.76827E-03 | |
8497 | 42 | R/H | 59 | rs149855485 | 0.7452 | None | 1000 genomes | 5.99042E-03 | |
8497 | 42 | R/H | 59 | rs149855485 | 0.7452 | None | gnomAD-4.0.0 | 2.20866E-03 | |
8497 | 42 | R/S | 59 | rs369517119 | 0.7452 | None | gnomAD-4.0.0 | 6.84274E-07 | |
8498 | 43 | P/A | 70 | rs1225974862 | 0.8417 | None | gnomAD-2.1.1 | 7.13E-06 | |
8498 | 43 | P/A | 70 | rs1225974862 | 0.8417 | None | gnomAD-3.1.2 | 1.31E-05 | |
8498 | 43 | P/A | 70 | rs1225974862 | 0.8417 | None | gnomAD-4.0.0 | 2.47906E-06 | |
8500 | 45 | G/D | 111 | None | 0.5662 | None | gnomAD-4.0.0 | 1.36857E-06 | |
8500 | 45 | G/S | 111 | rs779848708 | 0.5662 | None | gnomAD-2.1.1 | 4.02E-06 | |
8500 | 45 | G/S | 111 | rs779848708 | 0.5662 | None | gnomAD-3.1.2 | 6.57E-06 | |
8500 | 45 | G/S | 111 | rs779848708 | 0.5662 | None | gnomAD-4.0.0 | 2.56258E-06 | |
8501 | 46 | N/K | 115 | rs758559820 | 0.1943 | None | gnomAD-2.1.1 | 8.03E-06 | |
8501 | 46 | N/K | 115 | rs758559820 | 0.1943 | None | gnomAD-4.0.0 | 5.47423E-06 | |
8503 | 48 | K/E | 122 | rs1336555903 | 0.3495 | None | gnomAD-2.1.1 | 4.02E-06 | |
8503 | 48 | K/E | 122 | rs1336555903 | 0.3495 | None | gnomAD-4.0.0 | 1.59166E-06 | |
8503 | 48 | K/R | 122 | rs765512040 | 0.3495 | None | gnomAD-2.1.1 | 1.61E-05 | |
8503 | 48 | K/R | 122 | rs765512040 | 0.3495 | None | gnomAD-4.0.0 | 5.47424E-06 | |
8503 | 48 | K/T | 122 | rs765512040 | 0.3495 | None | gnomAD-2.1.1 | 4.02E-06 | |
8503 | 48 | K/T | 122 | rs765512040 | 0.3495 | None | gnomAD-4.0.0 | 6.8428E-07 | |
8504 | 49 | M/K | 123 | None | 0.2467 | None | gnomAD-4.0.0 | 1.59164E-06 | |
8504 | 49 | M/L | 123 | rs761929830 | 0.2467 | None | gnomAD-2.1.1 | 1.61E-05 | |
8504 | 49 | M/L | 123 | rs761929830 | 0.2467 | None | gnomAD-3.1.2 | 1.97E-05 | |
8504 | 49 | M/L | 123 | rs761929830 | 0.2467 | None | gnomAD-4.0.0 | 1.02505E-05 | |
8504 | 49 | M/V | 123 | rs761929830 | 0.2467 | None | gnomAD-4.0.0 | 2.56224E-06 | |
8505 | 50 | T/A | 125 | rs1361103429 | 0.5281 | None | gnomAD-3.1.2 | 6.57E-06 | |
8505 | 50 | T/A | 125 | rs1361103429 | 0.5281 | None | gnomAD-4.0.0 | 1.23949E-06 | |
8505 | 50 | T/S | 125 | None | 0.5281 | None | gnomAD-4.0.0 | 6.84279E-07 | |
8506 | 51 | L/F | 127 | rs748617903 | 0.4249 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8506 | 51 | L/V | 127 | None | 0.4249 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8507 | 52 | V/I | 130 | None | 0.5927 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8508 | 53 | E/D | 131 | None | 0.8123 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8508 | 53 | E/G | 131 | rs2154298886 | 0.8123 | None | gnomAD-3.1.2 | 6.57E-06 | |
8508 | 53 | E/G | 131 | rs2154298886 | 0.8123 | None | gnomAD-4.0.0 | 2.5623E-06 | |
8509 | 54 | N/D | 134 | None | 0.3065 | None | gnomAD-4.0.0 | 1.59167E-06 | |
8510 | 55 | T/A | 135 | None | 0.2612 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8510 | 55 | T/I | 135 | None | 0.2612 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8510 | 55 | T/P | 135 | rs576038518 | 0.2612 | None | 1000 genomes | 2.8754E-02 | |
8510 | 55 | T/P | 135 | rs576038518 | 0.2612 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8512 | 57 | T/I | 137 | rs764620561 | 0.1795 | None | gnomAD-2.1.1 | 7.14E-06 | |
8512 | 57 | T/I | 137 | rs764620561 | 0.1795 | None | gnomAD-3.1.2 | 6.57E-06 | |
8512 | 57 | T/I | 137 | rs764620561 | 0.1795 | None | gnomAD-4.0.0 | 3.71849E-06 | |
8513 | 58 | L/P | 138 | None | 0.0539 | None | gnomAD-4.0.0 | 1.59169E-06 | |
8516 | 61 | L/F | 141 | rs775937094 | 0.3732 | None | gnomAD-3.1.2 | 1.31E-05 | |
8516 | 61 | L/F | 141 | rs775937094 | 0.3732 | None | gnomAD-4.0.0 | 4.95814E-06 | |
8516 | 61 | L/V | 141 | rs775937094 | 0.3732 | None | gnomAD-4.0.0 | 4.1058E-06 | |
8517 | 62 | K/E | 143 | None | 0.7282 | None | gnomAD-4.0.0 | 1.59173E-06 | |
8518 | 63 | V/L | 144 | None | 0.0809 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8519 | 64 | G/D | 145 | None | 0.3127 | None | gnomAD-4.0.0 | 3.4215E-06 | |
8519 | 64 | G/S | 145 | rs760041371 | 0.3127 | None | gnomAD-2.1.1 | 1.61E-05 | |
8519 | 64 | G/S | 145 | rs760041371 | 0.3127 | None | gnomAD-4.0.0 | 8.2116E-06 | |
8519 | 64 | G/V | 145 | None | 0.3127 | None | gnomAD-4.0.0 | 6.84301E-07 | |
8522 | 67 | D/N | 149 | rs199619070 | 0.1045 | None | gnomAD-2.1.1 | 9.64E-05 | |
8522 | 67 | D/N | 149 | rs199619070 | 0.1045 | None | gnomAD-3.1.2 | 1.31423E-04 | |
8522 | 67 | D/N | 149 | rs199619070 | 0.1045 | None | 1000 genomes | 1.99681E-04 | |
8522 | 67 | D/N | 149 | rs199619070 | 0.1045 | None | gnomAD-4.0.0 | 1.61129E-04 | |
8523 | 68 | A/T | 151 | rs1288397933 | 0.2687 | None | gnomAD-2.1.1 | 4.02E-06 | |
8523 | 68 | A/T | 151 | rs1288397933 | 0.2687 | None | gnomAD-4.0.0 | 1.23177E-05 | |
8523 | 68 | A/V | 151 | rs1227310783 | 0.2687 | None | gnomAD-2.1.1 | 4.02E-06 | |
8523 | 68 | A/V | 151 | rs1227310783 | 0.2687 | None | gnomAD-3.1.2 | 1.31E-05 | |
8523 | 68 | A/V | 151 | rs1227310783 | 0.2687 | None | gnomAD-4.0.0 | 3.09892E-06 | |
8524 | 69 | G/R | 152 | rs371512914 | 0.1578 | None | gnomAD-2.1.1 | 6.07E-05 | |
8524 | 69 | G/R | 152 | rs371512914 | 0.1578 | None | gnomAD-3.1.2 | 9.86E-05 | |
8524 | 69 | G/R | 152 | rs371512914 | 0.1578 | None | gnomAD-4.0.0 | 6.63184E-05 | |
8525 | 70 | Q/L | 153 | None | 0.4368 | None | gnomAD-4.0.0 | 2.05295E-06 | |
8525 | 70 | Q/P | 153 | rs2077609752 | 0.4368 | None | gnomAD-3.1.2 | 6.57E-06 | |
8525 | 70 | Q/P | 153 | rs2077609752 | 0.4368 | None | gnomAD-4.0.0 | 6.57013E-06 | |
8527 | 72 | T/I | 155 | rs1560626573 | 0.1421 | None | gnomAD-2.1.1 | 4.02E-06 | |
8527 | 72 | T/I | 155 | rs1560626573 | 0.1421 | None | gnomAD-4.0.0 | 2.7373E-06 | |
8528 | 73 | C/Y | 156 | rs1364963458 | 0.0611 | None | gnomAD-2.1.1 | 4.02E-06 | |
8528 | 73 | C/Y | 156 | rs1364963458 | 0.0611 | None | gnomAD-4.0.0 | 4.10599E-06 | |
8529 | 74 | Y/C | 157 | None | 0.4279 | None | gnomAD-4.0.0 | 1.59197E-06 | |
8530 | 75 | A/E | 158 | rs2077607600 | 0.0950 | None | gnomAD-3.1.2 | 6.57E-06 | |
8530 | 75 | A/E | 158 | rs2077607600 | 0.0950 | None | gnomAD-4.0.0 | 6.57142E-06 | |
8532 | 77 | N/S | 161 | rs368106359 | 0.1205 | None | gnomAD-2.1.1 | 1.21E-05 | |
8532 | 77 | N/S | 161 | rs368106359 | 0.1205 | None | gnomAD-3.1.2 | 6.57E-06 | |
8532 | 77 | N/S | 161 | rs368106359 | 0.1205 | None | gnomAD-4.0.0 | 8.05777E-06 | |
8533 | 78 | I/F | 162 | None | 0.7805 | None | gnomAD-4.0.0 | 1.36878E-06 | |
8533 | 78 | I/N | 162 | None | 0.7805 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8533 | 78 | I/V | 162 | rs367921306 | 0.7805 | None | gnomAD-2.1.1 | 2.82E-05 | |
8533 | 78 | I/V | 162 | rs367921306 | 0.7805 | None | gnomAD-3.1.2 | 1.97E-05 | |
8533 | 78 | I/V | 162 | rs367921306 | 0.7805 | None | 1000 genomes | 3.99361E-04 | |
8533 | 78 | I/V | 162 | rs367921306 | 0.7805 | None | gnomAD-4.0.0 | 1.23959E-05 | |
8534 | 79 | A/S | 163 | rs779163897 | 0.3175 | None | gnomAD-2.1.1 | 2.82E-05 | |
8534 | 79 | A/S | 163 | rs779163897 | 0.3175 | None | gnomAD-3.1.2 | 6.57E-06 | |
8534 | 79 | A/S | 163 | rs779163897 | 0.3175 | None | gnomAD-4.0.0 | 1.73567E-05 | |
8534 | 79 | A/T | 163 | rs779163897 | 0.3175 | None | gnomAD-2.1.1 | 4.03E-06 | |
8534 | 79 | A/T | 163 | rs779163897 | 0.3175 | None | gnomAD-3.1.2 | 6.57E-06 | |
8534 | 79 | A/T | 163 | rs779163897 | 0.3175 | None | gnomAD-4.0.0 | 2.29356E-05 | |
8535 | 80 | G/R | 164 | None | 0.1973 | None | gnomAD-4.0.0 | 1.59257E-06 | |
8537 | 82 | D/E | 166 | None | 0.3101 | None | gnomAD-4.0.0 | 1.36895E-06 | |
8537 | 82 | D/N | 166 | rs2077605401 | 0.3101 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8538 | 83 | S/A | 168 | None | 0.2891 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8538 | 83 | S/F | 168 | rs375170912 | 0.2891 | None | gnomAD-2.1.1 | 2.15E-05 | |
8538 | 83 | S/F | 168 | rs375170912 | 0.2891 | None | gnomAD-3.1.2 | 7.23E-05 | |
8538 | 83 | S/F | 168 | rs375170912 | 0.2891 | None | gnomAD-4.0.0 | 9.29889E-06 | |
8539 | 84 | C/F | 169 | rs550882549 | 0.1426 | None | gnomAD-2.1.1 | 2.21785E-04 | |
8539 | 84 | C/F | 169 | rs550882549 | 0.1426 | None | gnomAD-3.1.2 | 6.57E-05 | |
8539 | 84 | C/F | 169 | rs550882549 | 0.1426 | None | 1000 genomes | 1.99681E-04 | |
8539 | 84 | C/F | 169 | rs550882549 | 0.1426 | None | gnomAD-4.0.0 | 1.20885E-04 | |
8539 | 84 | C/Y | 169 | rs550882549 | 0.1426 | None | gnomAD-2.1.1 | 4.03E-06 | |
8539 | 84 | C/Y | 169 | rs550882549 | 0.1426 | None | gnomAD-4.0.0 | 2.05364E-06 | |
8540 | 85 | S/A | 171 | rs77120780 | 0.3997 | None | gnomAD-2.1.1 | 4.03E-06 | |
8540 | 85 | S/A | 171 | rs77120780 | 0.3997 | None | gnomAD-4.0.0 | 1.59295E-06 | |
8540 | 85 | S/F | 171 | rs201523784 | 0.3997 | None | gnomAD-2.1.1 | 5.36569E-04 | |
8540 | 85 | S/F | 171 | rs201523784 | 0.3997 | None | gnomAD-3.1.2 | 4.27148E-04 | |
8540 | 85 | S/F | 171 | rs201523784 | 0.3997 | None | 1000 genomes | 1.99681E-04 | |
8540 | 85 | S/F | 171 | rs201523784 | 0.3997 | None | gnomAD-4.0.0 | 6.03203E-04 | |
8540 | 85 | S/Y | 171 | None | 0.3997 | None | gnomAD-4.0.0 | 6.84575E-07 | |
8541 | 86 | A/V | 172 | None | 0.0994 | None | gnomAD-4.0.0 | 1.59535E-06 | |
8542 | 87 | Q/H | 173 | rs2562832 | 0.2740 | None | gnomAD-2.1.1 | 3.8209E-02 | |
8542 | 87 | Q/H | 173 | rs2562832 | 0.2740 | None | gnomAD-3.1.2 | 2.59822E-02 | |
8542 | 87 | Q/H | 173 | rs2562832 | 0.2740 | None | 1000 genomes | 5.13179E-02 | |
8542 | 87 | Q/H | 173 | rs2562832 | 0.2740 | None | gnomAD-4.0.0 | 2.73129E-02 | |
8542 | 87 | Q/P | 173 | None | 0.2740 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8543 | 88 | L/P | 174 | None | 0.1062 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8544 | 89 | G/A | 175 | rs2077603060 | 0.1923 | None | gnomAD-4.0.0 | 1.3717E-06 | |
8544 | 89 | G/D | 175 | None | 0.1923 | None | gnomAD-4.0.0 | 2.7434E-06 | |
8545 | 90 | V/A | 177 | None | 0.1818 | None | gnomAD-4.0.0 | 1.37188E-06 | |
8545 | 90 | V/E | 177 | rs1313924560 | 0.1818 | None | gnomAD-3.1.2 | 6.57E-06 | |
8545 | 90 | V/E | 177 | rs1313924560 | 0.1818 | None | gnomAD-4.0.0 | 6.5716E-06 | |
8545 | 90 | V/I | 177 | rs1246177699 | 0.1818 | None | gnomAD-3.1.2 | 6.57E-06 | |
8545 | 90 | V/I | 177 | rs1246177699 | 0.1818 | None | gnomAD-4.0.0 | 3.86256E-06 |