10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
K | P | G | A | P | G | K | P | T | I | T | A | V | T | K | D | S | C | V | V | A | W | K | P | P | A | S | D | G | G | A | K | I | R | N | Y | Y | L | E | K | R | E | K | K | Q | N | K | W | I | S | V | T | T | E | E | I | R | E | T | V | F | S | V | K | N | L | I | E | G | L | E | Y | E | F | R | V | K | C | E | N | L | G | G | E | S | E | W | S | E | I | S | E | P | I | T | P | K | S | D | V | P | I | Q | A | P | H | F | K | E | E | L | R | N | L | N | V | R | Y | Q | S | N | A | T | L | V | C | K | V | T | G | H | P | K | P | I | V | K | W | Y | R | Q | G | K | E | I | I | A | D | G | L | K | Y | R | I | Q | E | F | K | G | G | Y | H | Q | L | I | I | A | S | V | T | D | D | D | A | T | V | Y | Q | V | R | A | T | N | Q | G | G | S | V | S | G | T | A | S | L | E | V | E |
K | P | G | A | P | G | K | P | T | I | T | A | V | T | K | D | S | C | V | V | A | W | K | P | P | A | S | D | G | G | A | K | I | R | N | Y | Y | L | E | K | R | E | K | K | Q | N | K | W | I | S | V | T | T | E | E | I | R | E | T | V | F | S | V | K | N | L | I | E | G | L | E | Y | E | F | R | V | K | C | E | N | L | G | G | E | S | E | W | S | E | I | S | E | P | I | T | P | K | S | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
33392 | 1 | K/R | 1 | rs1363009157 | 0.6228 | None | gnomAD-2.1.1 | 3.19E-05 | |
33392 | 1 | K/R | 1 | rs1363009157 | 0.6228 | None | gnomAD-3.1.2 | 6.57E-06 | |
33392 | 1 | K/R | 1 | rs1363009157 | 0.6228 | None | gnomAD-4.0.0 | 6.56927E-06 | |
33393 | 2 | P/L | 2 | rs1339535549 | 0.1284 | None | gnomAD-3.1.2 | 6.57E-06 | |
33393 | 2 | P/L | 2 | rs1339535549 | 0.1284 | None | gnomAD-4.0.0 | 6.57367E-06 | |
33393 | 2 | P/S | 2 | None | 0.1284 | None | gnomAD-4.0.0 | 1.49522E-06 | |
33393 | 2 | P/T | 2 | None | 0.1284 | None | gnomAD-4.0.0 | 7.47612E-07 | |
33394 | 3 | G/A | 3 | None | 0.2400 | None | gnomAD-4.0.0 | 7.46551E-07 | |
33394 | 3 | G/D | 3 | rs770179598 | 0.2400 | None | gnomAD-2.1.1 | 1.56E-05 | |
33394 | 3 | G/D | 3 | rs770179598 | 0.2400 | None | gnomAD-3.1.2 | 1.31E-05 | |
33394 | 3 | G/D | 3 | rs770179598 | 0.2400 | None | gnomAD-4.0.0 | 1.07262E-05 | |
33395 | 4 | A/P | 4 | rs761311859 | 0.3093 | None | gnomAD-4.0.0 | 2.23571E-06 | |
33395 | 4 | A/T | 4 | rs761311859 | 0.3093 | None | gnomAD-4.0.0 | 2.98095E-06 | |
33397 | 6 | G/A | 6 | None | 0.2404 | None | gnomAD-4.0.0 | 7.44605E-07 | |
33397 | 6 | G/D | 6 | rs1356361274 | 0.2404 | None | gnomAD-3.1.2 | 6.57E-06 | |
33397 | 6 | G/D | 6 | rs1356361274 | 0.2404 | None | gnomAD-4.0.0 | 1.33768E-06 | |
33397 | 6 | G/S | 6 | None | 0.2404 | None | gnomAD-4.0.0 | 1.48799E-06 | |
33398 | 7 | K/Q | 7 | None | 0.2941 | None | gnomAD-4.0.0 | 1.94455E-06 | |
33399 | 8 | P/L | 9 | None | 0.1281 | None | gnomAD-4.0.0 | 3.90072E-06 | |
33400 | 9 | T/I | 11 | rs1034663911 | 0.4629 | None | gnomAD-4.0.0 | 7.37633E-07 | |
33400 | 9 | T/S | 11 | rs1034663911 | 0.4629 | None | gnomAD-2.1.1 | 5.91E-06 | |
33400 | 9 | T/S | 11 | rs1034663911 | 0.4629 | None | gnomAD-3.1.2 | 6.57E-06 | |
33400 | 9 | T/S | 11 | rs1034663911 | 0.4629 | None | gnomAD-4.0.0 | 1.32635E-06 | |
33401 | 10 | I/T | 12 | rs748467010 | 0.2321 | None | gnomAD-2.1.1 | 5.87E-06 | |
33401 | 10 | I/T | 12 | rs748467010 | 0.2321 | None | gnomAD-4.0.0 | 1.90502E-06 | |
33401 | 10 | I/V | 12 | rs786205294 | 0.2321 | None | gnomAD-2.1.1 | 5.89E-06 | |
33401 | 10 | I/V | 12 | rs786205294 | 0.2321 | None | gnomAD-4.0.0 | 3.81537E-06 | |
33402 | 11 | T/A | 13 | rs777018654 | 0.4667 | None | gnomAD-2.1.1 | 1.17E-05 | |
33402 | 11 | T/A | 13 | rs777018654 | 0.4667 | None | gnomAD-3.1.2 | 6.57E-06 | |
33402 | 11 | T/A | 13 | rs777018654 | 0.4667 | None | gnomAD-4.0.0 | 4.4247E-06 | |
33403 | 12 | A/T | 14 | None | 0.1589 | None | gnomAD-4.0.0 | 7.33229E-07 | |
33404 | 13 | V/I | 15 | None | 0.2303 | None | gnomAD-4.0.0 | 2.92403E-06 | |
33405 | 14 | T/I | 16 | None | 0.1455 | None | gnomAD-4.0.0 | 7.28526E-07 | |
33405 | 14 | T/R | 16 | None | 0.1455 | None | gnomAD-4.0.0 | 7.28526E-07 | |
33406 | 15 | K/T | 17 | None | 0.5803 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33407 | 16 | D/H | 18 | rs771684833 | 0.4025 | None | gnomAD-2.1.1 | 5.59E-06 | |
33407 | 16 | D/H | 18 | rs771684833 | 0.4025 | None | gnomAD-4.0.0 | 5.08812E-06 | |
33408 | 17 | S/C | 19 | rs1268223494 | 0.1148 | None | gnomAD-2.1.1 | 5.51E-06 | |
33409 | 18 | C/S | 20 | None | 0.0977 | None | gnomAD-3.1.2 | 6.57E-06 | |
33409 | 18 | C/S | 20 | None | 0.0977 | None | gnomAD-4.0.0 | 6.5703E-06 | |
33409 | 18 | C/Y | 20 | rs201112096 | 0.0977 | None | gnomAD-2.1.1 | 1.25694E-04 | |
33409 | 18 | C/Y | 20 | rs201112096 | 0.0977 | None | gnomAD-3.1.2 | 1.11695E-04 | |
33409 | 18 | C/Y | 20 | rs201112096 | 0.0977 | None | 1000 genomes | 1.99681E-04 | |
33409 | 18 | C/Y | 20 | rs201112096 | 0.0977 | None | gnomAD-4.0.0 | 7.88803E-05 | |
33410 | 19 | V/A | 21 | None | 0.1082 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33410 | 19 | V/I | 21 | rs1691577355 | 0.1082 | None | gnomAD-4.0.0 | 1.81666E-06 | |
33412 | 21 | A/S | 23 | None | 0.1266 | None | gnomAD-4.0.0 | 7.16524E-07 | |
33412 | 21 | A/T | 23 | rs778297512 | 0.1266 | None | gnomAD-2.1.1 | 5.13E-06 | |
33412 | 21 | A/T | 23 | rs778297512 | 0.1266 | None | gnomAD-4.0.0 | 7.16523E-07 | |
33413 | 22 | W/R | 24 | None | 0.1147 | None | gnomAD-4.0.0 | 1.43003E-06 | |
33415 | 24 | P/A | 26 | None | 0.3313 | None | gnomAD-4.0.0 | 7.10326E-07 | |
33415 | 24 | P/L | 26 | rs72648282 | 0.3313 |
ARVC |
Literature | None | |
33415 | 24 | P/L | 26 | rs72648282 | 0.3313 | None | gnomAD-4.0.0 | 3.47766E-06 | |
33415 | 24 | P/S | 26 | None | 0.3313 | None | gnomAD-4.0.0 | 7.10326E-07 | |
33415 | 24 | P/T | 26 | None | 0.3313 | None | gnomAD-4.0.0 | 7.10326E-07 | |
33416 | 25 | P/S | 27 | None | 0.1893 | None | gnomAD-4.0.0 | 1.73458E-06 | |
33416 | 25 | P/T | 27 | rs1691567099 | 0.1893 | None | gnomAD-3.1.2 | 6.57E-06 | |
33417 | 26 | A/S | 28 | None | 0.9269 | None | gnomAD-4.0.0 | 1.72826E-06 | |
33417 | 26 | A/V | 28 | None | 0.9269 | None | gnomAD-4.0.0 | 7.07895E-07 | |
33418 | 27 | S/G | 29 | rs1167149103 | 0.4715 | None | gnomAD-4.0.0 | 1.72325E-06 | |
33418 | 27 | S/T | 29 | None | 0.4715 | None | gnomAD-4.0.0 | 7.06109E-07 | |
33420 | 29 | G/E | 31 | None | 0.3795 | None | gnomAD-4.0.0 | 7.03873E-07 | |
33421 | 30 | G/D | 32 | None | 0.6463 | None | gnomAD-4.0.0 | 7.01735E-07 | |
33421 | 30 | G/V | 32 | None | 0.6463 | None | gnomAD-4.0.0 | 7.01734E-06 | |
33422 | 31 | A/E | 33 | rs1191954484 | 0.2156 | None | gnomAD-2.1.1 | 4.46E-06 | |
33422 | 31 | A/E | 33 | rs1191954484 | 0.2156 | None | gnomAD-4.0.0 | 1.6743E-06 | |
33422 | 31 | A/T | 33 | rs1419201312 | 0.2156 | None | gnomAD-2.1.1 | 4.56E-06 | |
33422 | 31 | A/T | 33 | rs1419201312 | 0.2156 | None | gnomAD-4.0.0 | 7.01749E-07 | |
33423 | 32 | K/E | 34 | rs376528148 | 0.5427 | None | gnomAD-2.1.1 | 5.05E-05 | |
33423 | 32 | K/E | 34 | rs376528148 | 0.5427 | None | gnomAD-3.1.2 | 1.44545E-04 | |
33423 | 32 | K/E | 34 | rs376528148 | 0.5427 | None | gnomAD-4.0.0 | 2.20891E-05 | |
33423 | 32 | K/N | 34 | None | 0.5427 | None | gnomAD-4.0.0 | 1.66616E-06 | |
33424 | 33 | I/F | 35 | rs1264517895 | 0.1713 | None | gnomAD-2.1.1 | 4.41E-06 | |
33424 | 33 | I/F | 35 | rs1264517895 | 0.1713 | None | gnomAD-4.0.0 | 5.58079E-06 | |
33425 | 34 | R/I | 36 | None | 0.4649 | None | gnomAD-4.0.0 | 6.93947E-07 | |
33425 | 34 | R/S | 36 | None | 0.4649 | None | gnomAD-4.0.0 | 1.6409E-06 | |
33425 | 34 | R/T | 36 | None | 0.4649 | None | gnomAD-4.0.0 | 6.93946E-07 | |
33427 | 36 | Y/F | 38 | rs755215899 | 0.1173 | None | gnomAD-2.1.1 | 1.26E-05 | |
33427 | 36 | Y/F | 38 | rs755215899 | 0.1173 | None | gnomAD-3.1.2 | 6.57E-06 | |
33427 | 36 | Y/F | 38 | rs755215899 | 0.1173 | None | gnomAD-4.0.0 | 2.87358E-05 | |
33428 | 37 | Y/H | 39 | rs766455406 | 0.3204 | None | gnomAD-2.1.1 | 3.18E-05 | |
33428 | 37 | Y/N | 39 | rs766455406 | 0.3204 | None | gnomAD-2.1.1 | 4.2E-06 | |
33428 | 37 | Y/N | 39 | rs766455406 | 0.3204 | None | gnomAD-3.1.2 | 6.57E-06 | |
33428 | 37 | Y/N | 39 | rs766455406 | 0.3204 | None | gnomAD-4.0.0 | 1.31106E-05 | |
33429 | 38 | L/P | 40 | rs762983936 | 0.1009 | None | gnomAD-2.1.1 | 4.14E-06 | |
33430 | 39 | E/G | 41 | rs1451693700 | 0.1125 | None | gnomAD-2.1.1 | 3.18E-05 | |
33430 | 39 | E/G | 41 | rs1451693700 | 0.1125 | None | gnomAD-3.1.2 | 6.57E-06 | |
33430 | 39 | E/G | 41 | rs1451693700 | 0.1125 | None | gnomAD-4.0.0 | 6.56866E-06 | |
33430 | 39 | E/K | 41 | None | 0.1125 | None | gnomAD-4.0.0 | 6.87785E-07 | |
33430 | 39 | E/Q | 41 | rs1306593983 | 0.1125 | None | gnomAD-2.1.1 | 8.23E-06 | |
33430 | 39 | E/Q | 41 | rs1306593983 | 0.1125 | None | gnomAD-4.0.0 | 6.87785E-06 | |
33431 | 40 | K/M | 42 | rs369597353 | 0.1952 | None | gnomAD-2.1.1 | 4.09E-06 | |
33431 | 40 | K/M | 42 | rs369597353 | 0.1952 | None | gnomAD-4.0.0 | 1.60731E-06 | |
33431 | 40 | K/R | 42 | rs369597353 | 0.1952 | None | gnomAD-2.1.1 | 8.18E-06 | |
33431 | 40 | K/R | 42 | rs369597353 | 0.1952 | None | gnomAD-3.1.2 | 1.97E-05 | |
33432 | 41 | R/C | 43 | rs878882035 | 0.1954 | None | gnomAD-4.0.0 | 3.20381E-06 | |
33432 | 41 | R/G | 43 | None | 0.1954 | None | gnomAD-4.0.0 | 1.60191E-06 | |
33432 | 41 | R/H | 43 | rs374876608 | 0.1954 | None | gnomAD-2.1.1 | 5.76E-05 | |
33432 | 41 | R/H | 43 | rs374876608 | 0.1954 | None | gnomAD-3.1.2 | 1.70814E-04 | |
33432 | 41 | R/H | 43 | rs374876608 | 0.1954 | None | gnomAD-4.0.0 | 5.65062E-05 | |
33433 | 42 | E/D | 44 | rs879015914 | 0.2146 | None | gnomAD-2.1.1 | 2.03E-05 | |
33433 | 42 | E/D | 44 | rs879015914 | 0.2146 | None | gnomAD-3.1.2 | 5.26E-05 | |
33433 | 42 | E/D | 44 | rs879015914 | 0.2146 | None | gnomAD-4.0.0 | 7.4495E-06 | |
33435 | 44 | K/Q | 54 | rs773848816 | 0.9025 | None | gnomAD-2.1.1 | 2.15E-05 | |
33435 | 44 | K/Q | 54 | rs773848816 | 0.9025 | None | gnomAD-3.1.2 | 1.97E-05 | |
33435 | 44 | K/Q | 54 | rs773848816 | 0.9025 | None | gnomAD-4.0.0 | 1.79904E-05 | |
33435 | 44 | K/T | 54 | rs1311083435 | 0.9025 | None | gnomAD-3.1.2 | 6.57E-06 | |
33435 | 44 | K/T | 54 | rs1311083435 | 0.9025 | None | gnomAD-4.0.0 | 6.56892E-06 | |
33436 | 45 | Q/H | 60 | rs1403079521 | 0.5105 | None | gnomAD-2.1.1 | 4.03E-06 | |
33436 | 45 | Q/H | 60 | rs1403079521 | 0.5105 | None | gnomAD-3.1.2 | 6.57E-06 | |
33436 | 45 | Q/H | 60 | rs1403079521 | 0.5105 | None | gnomAD-4.0.0 | 3.72126E-06 | |
33436 | 45 | Q/K | 60 | None | 0.5105 | None | gnomAD-4.0.0 | 6.84918E-07 | |
33437 | 46 | N/S | 63 | rs1691532335 | 1.0889 | None | gnomAD-3.1.2 | 6.57E-06 | |
33437 | 46 | N/S | 63 | rs1691532335 | 1.0889 | None | gnomAD-4.0.0 | 8.98166E-06 | |
33439 | 48 | W/R | 65 | rs545443009 | 0.2111 | None | gnomAD-2.1.1 | 5.64E-05 | |
33439 | 48 | W/R | 65 | rs545443009 | 0.2111 | None | gnomAD-3.1.2 | 6.57E-06 | |
33439 | 48 | W/R | 65 | rs545443009 | 0.2111 | None | 1000 genomes | 1.99681E-04 | |
33439 | 48 | W/R | 65 | rs545443009 | 0.2111 | None | gnomAD-4.0.0 | 1.92183E-05 | |
33441 | 50 | S/T | 67 | rs759113549 | 0.3541 | None | gnomAD-2.1.1 | 8.05E-06 | |
33441 | 50 | S/T | 67 | rs759113549 | 0.3541 | None | gnomAD-4.0.0 | 3.18476E-06 | |
33442 | 51 | V/M | 68 | rs1691526659 | 0.2036 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33443 | 52 | T/K | 69 | None | 0.2506 | None | gnomAD-4.0.0 | 1.59213E-06 | |
33443 | 52 | T/R | 69 | None | 0.2506 | None | gnomAD-4.0.0 | 1.59213E-06 | |
33444 | 53 | T/I | 70 | None | 1.0020 | None | gnomAD-4.0.0 | 6.84354E-07 | |
33444 | 53 | T/K | 70 | None | 1.0020 | None | gnomAD-4.0.0 | 2.05306E-06 | |
33445 | 54 | E/K | 72 | rs774013465 | 0.7972 | None | gnomAD-2.1.1 | 4.03E-06 | |
33445 | 54 | E/K | 72 | rs774013465 | 0.7972 | None | gnomAD-3.1.2 | 1.97E-05 | |
33445 | 54 | E/K | 72 | rs774013465 | 0.7972 | None | gnomAD-4.0.0 | 8.05659E-06 | |
33448 | 57 | R/P | 83 | rs1315622743 | 0.6329 | None | gnomAD-4.0.0 | 2.7372E-06 | |
33448 | 57 | R/Q | 83 | rs1315622743 | 0.6329 | None | gnomAD-4.0.0 | 9.58021E-06 | |
33449 | 58 | E/A | 88 | rs1218969890 | 0.2962 | None | gnomAD-2.1.1 | 3.18E-05 | |
33449 | 58 | E/A | 88 | rs1218969890 | 0.2962 | None | gnomAD-3.1.2 | 6.57E-06 | |
33449 | 58 | E/A | 88 | rs1218969890 | 0.2962 | None | gnomAD-4.0.0 | 3.71835E-06 | |
33449 | 58 | E/Q | 88 | None | 0.2962 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33450 | 59 | T/N | 89 | rs1691516796 | 0.1023 | None | gnomAD-4.0.0 | 1.36857E-06 | |
33451 | 60 | V/A | 90 | rs1467511236 | 0.1823 | None | gnomAD-2.1.1 | 4.02E-06 | |
33451 | 60 | V/L | 90 | rs2154137428 | 0.1823 | None | gnomAD-3.1.2 | 6.57E-06 | |
33451 | 60 | V/L | 90 | rs2154137428 | 0.1823 | None | gnomAD-4.0.0 | 6.56564E-06 | |
33452 | 61 | F/S | 91 | rs1450640139 | 0.2329 | None | gnomAD-2.1.1 | 3.18E-05 | |
33452 | 61 | F/S | 91 | rs1450640139 | 0.2329 | None | gnomAD-3.1.2 | 6.57E-06 | |
33452 | 61 | F/S | 91 | rs1450640139 | 0.2329 | None | gnomAD-4.0.0 | 6.57022E-06 | |
33456 | 65 | N/S | 96 | None | 0.8657 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33456 | 65 | N/Y | 96 | None | 0.8657 | None | gnomAD-4.0.0 | 1.59152E-06 | |
33458 | 67 | I/T | 98 | rs72648283 | 0.5705 | None | gnomAD-2.1.1 | 1.21E-05 | |
33458 | 67 | I/T | 98 | rs72648283 | 0.5705 | None | gnomAD-3.1.2 | 6.57E-06 | |
33458 | 67 | I/T | 98 | rs72648283 | 0.5705 | None | gnomAD-4.0.0 | 8.67593E-06 | |
33458 | 67 | I/V | 98 | rs2154137413 | 0.5705 | None | gnomAD-4.0.0 | 1.5915E-06 | |
33460 | 69 | G/D | 100 | rs1691502761 | 0.4173 | None | gnomAD-4.0.0 | 1.59153E-06 | |
33460 | 69 | G/S | 100 | rs1177814135 | 0.4173 | None | gnomAD-4.0.0 | 3.18305E-06 | |
33462 | 71 | E/A | 103 | None | 0.3292 | None | gnomAD-4.0.0 | 1.5915E-06 | |
33462 | 71 | E/K | 103 | rs748104690 | 0.3292 | None | gnomAD-2.1.1 | 3.22E-05 | |
33462 | 71 | E/K | 103 | rs748104690 | 0.3292 | None | gnomAD-3.1.2 | 3.94E-05 | |
33462 | 71 | E/K | 103 | rs748104690 | 0.3292 | None | gnomAD-4.0.0 | 1.61127E-05 | |
33463 | 72 | Y/C | 104 | rs780864416 | 0.1279 | None | gnomAD-2.1.1 | 4.02E-06 | |
33463 | 72 | Y/C | 104 | rs780864416 | 0.1279 | None | gnomAD-3.1.2 | 6.57E-06 | |
33463 | 72 | Y/C | 104 | rs780864416 | 0.1279 | None | gnomAD-4.0.0 | 3.84337E-06 | |
33464 | 73 | E/A | 105 | rs1480074410 | 0.1383 | None | gnomAD-2.1.1 | 4.02E-06 | |
33464 | 73 | E/A | 105 | rs1480074410 | 0.1383 | None | gnomAD-4.0.0 | 3.18292E-06 | |
33464 | 73 | E/K | 105 | None | 0.1383 | None | gnomAD-2.1.1 | 7.14E-06 | |
33464 | 73 | E/K | 105 | None | 0.1383 | None | gnomAD-3.1.2 | 2.63E-05 | |
33464 | 73 | E/K | 105 | None | 0.1383 | None | gnomAD-4.0.0 | 7.43661E-06 | |
33464 | 73 | E/Q | 105 | rs374920916 | 0.1383 | None | gnomAD-4.0.0 | 6.84263E-07 | |
33465 | 74 | F/L | 106 | rs1691494185 | 0.1261 | None | gnomAD-3.1.2 | 6.57E-06 | |
33465 | 74 | F/L | 106 | rs1691494185 | 0.1261 | None | gnomAD-4.0.0 | 6.57194E-06 | |
33466 | 75 | R/C | 107 | rs371908649 | 0.1042 | None | gnomAD-2.1.1 | 1.42913E-04 | |
33466 | 75 | R/C | 107 | rs371908649 | 0.1042 | None | gnomAD-3.1.2 | 7.89E-05 | |
33466 | 75 | R/C | 107 | rs371908649 | 0.1042 | None | 1000 genomes | 1.99681E-04 | |
33466 | 75 | R/C | 107 | rs371908649 | 0.1042 | None | gnomAD-4.0.0 | 3.28441E-05 | |
33466 | 75 | R/H | 107 | None | 0.1042 | None | gnomAD-2.1.1 | 6.79E-05 | |
33466 | 75 | R/H | 107 | None | 0.1042 | None | gnomAD-3.1.2 | 1.97148E-04 | |
33466 | 75 | R/H | 107 | None | 0.1042 | None | 1000 genomes | 5.99042E-04 | |
33466 | 75 | R/H | 107 | None | 0.1042 | None | gnomAD-4.0.0 | 7.12636E-05 | |
33466 | 75 | R/L | 107 | rs189626540 | 0.1042 | None | gnomAD-2.1.1 | 1.43E-05 | |
33466 | 75 | R/L | 107 | rs189626540 | 0.1042 | None | gnomAD-3.1.2 | 1.97E-05 | |
33466 | 75 | R/L | 107 | rs189626540 | 0.1042 | None | gnomAD-4.0.0 | 4.3381E-06 | |
33466 | 75 | R/P | 107 | rs189626540 | 0.1042 | None | gnomAD-2.1.1 | 4.02E-06 | |
33466 | 75 | R/P | 107 | rs189626540 | 0.1042 | None | gnomAD-4.0.0 | 6.84257E-07 | |
33467 | 76 | V/G | 108 | rs200166942 | 0.0616 | None | gnomAD-2.1.1 | 3.07187E-04 | |
33467 | 76 | V/G | 108 | rs200166942 | 0.0616 | None | gnomAD-3.1.2 | 4.40129E-04 | |
33467 | 76 | V/G | 108 | rs200166942 | 0.0616 | None | 1000 genomes | 7.98722E-04 | |
33467 | 76 | V/G | 108 | rs200166942 | 0.0616 | None | gnomAD-4.0.0 | 5.33519E-04 | |
33467 | 76 | V/L | 108 | None | 0.0616 | None | gnomAD-4.0.0 | 1.5915E-06 | |
33468 | 77 | K/N | 109 | rs879250663 | 0.1018 | None | gnomAD-3.1.2 | 6.57E-06 | |
33468 | 77 | K/N | 109 | rs879250663 | 0.1018 | None | gnomAD-4.0.0 | 6.5697E-06 | |
33469 | 78 | C/W | 110 | rs979276403 | 0.0690 | None | gnomAD-3.1.2 | 6.57E-06 | |
33469 | 78 | C/W | 110 | rs979276403 | 0.0690 | None | gnomAD-4.0.0 | 2.56226E-06 | |
33470 | 79 | E/D | 111 | None | 0.1948 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33470 | 79 | E/K | 111 | None | 0.1948 | None | gnomAD-4.0.0 | 2.40064E-06 | |
33471 | 80 | N/D | 112 | rs1313883855 | 0.1144 | None | gnomAD-4.0.0 | 3.18308E-06 | |
33471 | 80 | N/Y | 112 | rs1313883855 | 0.1144 | None | gnomAD-2.1.1 | 4.02E-06 | |
33471 | 80 | N/Y | 112 | rs1313883855 | 0.1144 | None | gnomAD-4.0.0 | 1.59154E-06 | |
33472 | 81 | L/R | 113 | None | 0.8246 | None | gnomAD-4.0.0 | 1.59154E-06 | |
33473 | 82 | G/A | 114 | rs1387409572 | 0.4661 | None | gnomAD-2.1.1 | 4.02E-06 | |
33473 | 82 | G/A | 114 | rs1387409572 | 0.4661 | None | gnomAD-4.0.0 | 1.59158E-06 | |
33473 | 82 | G/S | 114 | rs397517783 | 0.4661 | None | gnomAD-2.1.1 | 4.64E-05 | |
33473 | 82 | G/S | 114 | rs397517783 | 0.4661 | None | gnomAD-3.1.2 | 1.11707E-04 | |
33473 | 82 | G/S | 114 | rs397517783 | 0.4661 | None | gnomAD-4.0.0 | 3.78037E-05 | |
33474 | 83 | G/R | 115 | rs1221430009 | 0.1965 | None | gnomAD-3.1.2 | 6.57E-06 | |
33474 | 83 | G/R | 115 | rs1221430009 | 0.1965 | None | gnomAD-4.0.0 | 6.57056E-06 | |
33475 | 84 | E/K | 117 | rs377287413 | 0.4151 | None | gnomAD-2.1.1 | 1.21E-05 | |
33475 | 84 | E/K | 117 | rs377287413 | 0.4151 | None | gnomAD-3.1.2 | 2.63E-05 | |
33475 | 84 | E/K | 117 | rs377287413 | 0.4151 | None | 1000 genomes | 1.99681E-04 | |
33475 | 84 | E/K | 117 | rs377287413 | 0.4151 | None | gnomAD-4.0.0 | 9.91537E-06 | |
33477 | 86 | E/Q | 119 | rs794729556 | 0.7000 | None | gnomAD-3.1.2 | 6.57E-06 | |
33477 | 86 | E/Q | 119 | rs794729556 | 0.7000 | None | gnomAD-4.0.0 | 6.57022E-06 | |
33478 | 87 | W/C | 120 | rs1449345093 | 0.2968 | None | gnomAD-2.1.1 | 4.02E-06 | |
33478 | 87 | W/G | 120 | rs372304158 | 0.2968 | None | gnomAD-2.1.1 | 1.92912E-04 | |
33478 | 87 | W/G | 120 | rs372304158 | 0.2968 | None | gnomAD-3.1.2 | 1.70819E-04 | |
33478 | 87 | W/G | 120 | rs372304158 | 0.2968 | None | gnomAD-4.0.0 | 3.0367E-04 | |
33479 | 88 | S/R | 121 | rs775974075 | 0.1393 | None | gnomAD-2.1.1 | 8.05E-06 | |
33479 | 88 | S/R | 121 | rs775974075 | 0.1393 | None | gnomAD-4.0.0 | 1.59171E-06 | |
33481 | 90 | I/M | 123 | None | 0.3304 | None | gnomAD-4.0.0 | 1.59165E-06 | |
33481 | 90 | I/T | 123 | rs1464925577 | 0.3304 | None | gnomAD-2.1.1 | 4.02E-06 | |
33481 | 90 | I/T | 123 | rs1464925577 | 0.3304 | None | gnomAD-4.0.0 | 1.59165E-06 | |
33483 | 92 | E/D | 125 | rs762690616 | 0.5703 | None | gnomAD-2.1.1 | 1.61E-05 | |
33483 | 92 | E/D | 125 | rs762690616 | 0.5703 | None | gnomAD-4.0.0 | 1.84754E-05 | |
33483 | 92 | E/K | 125 | rs368321767 | 0.5703 | None | gnomAD-3.1.2 | 6.57E-06 | |
33483 | 92 | E/K | 125 | rs368321767 | 0.5703 | None | gnomAD-4.0.0 | 6.57117E-06 | |
33483 | 92 | E/Q | 125 | rs368321767 | 0.5703 | None | gnomAD-2.1.1 | 1.92966E-04 | |
33483 | 92 | E/Q | 125 | rs368321767 | 0.5703 | None | gnomAD-3.1.2 | 1.7085E-04 | |
33483 | 92 | E/Q | 125 | rs368321767 | 0.5703 | None | gnomAD-4.0.0 | 3.03677E-04 | |
33484 | 93 | P/A | 126 | None | 0.3522 | None | gnomAD-4.0.0 | 1.59167E-06 | |
33484 | 93 | P/R | 126 | rs1235877834 | 0.3522 | None | gnomAD-2.1.1 | 1.07E-05 | |
33484 | 93 | P/R | 126 | rs1235877834 | 0.3522 | None | gnomAD-3.1.2 | 2.63E-05 | |
33484 | 93 | P/R | 126 | rs1235877834 | 0.3522 | None | gnomAD-4.0.0 | 7.68852E-06 | |
33484 | 93 | P/S | 126 | rs772916996 | 0.3522 | None | gnomAD-2.1.1 | 4.02E-06 | |
33484 | 93 | P/S | 126 | rs772916996 | 0.3522 | None | gnomAD-3.1.2 | 1.31E-05 | |
33484 | 93 | P/S | 126 | rs772916996 | 0.3522 | None | gnomAD-4.0.0 | 3.84421E-06 | |
33484 | 93 | P/T | 126 | rs772916996 | 0.3522 | None | gnomAD-3.1.2 | 6.57E-06 | |
33484 | 93 | P/T | 126 | rs772916996 | 0.3522 | None | gnomAD-4.0.0 | 6.57358E-06 | |
33485 | 94 | I/T | 127 | rs369247146 | 0.2587 | None | gnomAD-2.1.1 | 4.02E-06 | |
33485 | 94 | I/T | 127 | rs369247146 | 0.2587 | None | gnomAD-4.0.0 | 1.59164E-06 | |
33485 | 94 | I/V | 127 | rs2154137339 | 0.2587 | None | gnomAD-4.0.0 | 1.59157E-06 | |
33486 | 95 | T/A | 129 | rs1457955495 | 0.3205 | None | gnomAD-2.1.1 | 4.02E-06 | |
33486 | 95 | T/A | 129 | rs1457955495 | 0.3205 | None | gnomAD-4.0.0 | 4.77497E-06 | |
33486 | 95 | T/I | 129 | rs1024625225 | 0.3205 | None | gnomAD-3.1.2 | 1.31E-05 | |
33486 | 95 | T/I | 129 | rs1024625225 | 0.3205 | None | gnomAD-4.0.0 | 1.85922E-06 | |
33486 | 95 | T/P | 129 | None | 0.3205 | None | gnomAD-4.0.0 | 1.59166E-06 | |
33486 | 95 | T/S | 129 | None | 0.3205 | None | gnomAD-4.0.0 | 6.84277E-07 | |
33487 | 96 | P/S | 130 | rs72629779 | 0.1056 | None | gnomAD-2.1.1 | 3.74817E-03 | |
33487 | 96 | P/S | 130 | rs72629779 | 0.1056 | None | gnomAD-3.1.2 | 1.12065E-02 | |
33487 | 96 | P/S | 130 | rs72629779 | 0.1056 | None | 1000 genomes | 1.3778E-02 | |
33487 | 96 | P/S | 130 | rs72629779 | 0.1056 | None | gnomAD-4.0.0 | 2.0934E-03 | |
33488 | 97 | K/R | 131 | rs1415630189 | 0.7070 | None | gnomAD-4.0.0 | 2.40064E-06 | |
33489 | 98 | S/A | 132 | None | 0.3546 | None | gnomAD-4.0.0 | 1.59163E-06 | |
33489 | 98 | S/C | 132 | None | 0.3546 | None | gnomAD-4.0.0 | 4.80129E-06 |