10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | S | F | I | Q | P | L | S | S | L | R | V | H | N | G | E | T | V | R | F | H | A | R | V | S | G | I | P | K | P | E | I | Q | W | F | H | N | Q | Q | L | I | L | P | T | K | D | V | V | F | H | F | E | E | S | T | G | M | A | L | M | L | I | V | D | A | Y | S | E | H | A | G | Q | Y | S | C | K | A | A | N | S | A | G | E | A | T | C | A | A | T | L | T | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
3466 | 2 | S/G | 2 | None | 0.3760 | None | gnomAD-4.0.0 | 1.60981E-06 | |
3466 | 2 | S/N | 2 | None | 0.3760 | None | gnomAD-4.0.0 | 1.60964E-06 | |
3466 | 2 | S/R | 2 | rs760613487 | 0.3760 | None | gnomAD-2.1.1 | 4.09E-06 | |
3466 | 2 | S/T | 2 | rs533542171 | 0.3760 | None | gnomAD-2.1.1 | 4.1E-06 | |
3466 | 2 | S/T | 2 | rs533542171 | 0.3760 | None | gnomAD-3.1.2 | 6.57E-06 | |
3466 | 2 | S/T | 2 | rs533542171 | 0.3760 | None | 1000 genomes | 1.99681E-04 | |
3466 | 2 | S/T | 2 | rs533542171 | 0.3760 | None | gnomAD-4.0.0 | 6.56711E-06 | |
3469 | 5 | Q/H | 5 | rs775464538 | 0.4269 | None | gnomAD-2.1.1 | 4.06E-06 | |
3469 | 5 | Q/H | 5 | rs775464538 | 0.4269 | None | gnomAD-4.0.0 | 4.8027E-06 | |
3469 | 5 | Q/P | 5 | None | 0.4269 | None | gnomAD-4.0.0 | 1.6004E-06 | |
3470 | 6 | P/A | 7 | None | 0.4346 | None | gnomAD-4.0.0 | 6.8596E-07 | |
3470 | 6 | P/L | 7 | rs1331859754 | 0.4346 | None | gnomAD-2.1.1 | 4.04E-06 | |
3470 | 6 | P/L | 7 | rs1331859754 | 0.4346 | None | gnomAD-3.1.2 | 6.57E-06 | |
3470 | 6 | P/L | 7 | rs1331859754 | 0.4346 | None | gnomAD-4.0.0 | 2.57061E-06 | |
3470 | 6 | P/S | 7 | rs767525312 | 0.4346 | None | gnomAD-2.1.1 | 8.12E-06 | |
3470 | 6 | P/S | 7 | rs767525312 | 0.4346 | None | gnomAD-4.0.0 | 2.05788E-06 | |
3470 | 6 | P/T | 7 | rs767525312 | 0.4346 | None | gnomAD-2.1.1 | 4.06E-06 | |
3470 | 6 | P/T | 7 | rs767525312 | 0.4346 | None | gnomAD-4.0.0 | 1.37192E-06 | |
3471 | 7 | L/V | 8 | rs373569134 | 0.2011 | None | gnomAD-2.1.1 | 1.79E-05 | |
3471 | 7 | L/V | 8 | rs373569134 | 0.2011 | None | gnomAD-3.1.2 | 1.97E-05 | |
3471 | 7 | L/V | 8 | rs373569134 | 0.2011 | None | gnomAD-4.0.0 | 2.23413E-05 | |
3472 | 8 | S/L | 9 | None | 0.6081 | None | gnomAD-4.0.0 | 1.59549E-06 | |
3472 | 8 | S/P | 9 | rs1429881262 | 0.6081 | None | gnomAD-3.1.2 | 6.57E-06 | |
3472 | 8 | S/P | 9 | rs1429881262 | 0.6081 | None | gnomAD-4.0.0 | 2.56784E-06 | |
3473 | 9 | S/I | 11 | rs1574398380 | 0.4042 | None | gnomAD-4.0.0 | 1.59454E-06 | |
3475 | 11 | R/K | 14 | None | 0.8264 | None | gnomAD-4.0.0 | 1.59276E-06 | |
3476 | 12 | V/G | 16 | None | 0.1235 | None | gnomAD-4.0.0 | 1.59243E-06 | |
3476 | 12 | V/M | 16 | rs774551356 | 0.1235 | None | gnomAD-2.1.1 | 7.15E-06 | |
3476 | 12 | V/M | 16 | rs774551356 | 0.1235 | None | gnomAD-3.1.2 | 1.97E-05 | |
3476 | 12 | V/M | 16 | rs774551356 | 0.1235 | None | gnomAD-4.0.0 | 1.97011E-05 | |
3477 | 13 | H/P | 18 | rs1158438965 | 0.7120 | None | gnomAD-3.1.2 | 6.57E-06 | |
3477 | 13 | H/P | 18 | rs1158438965 | 0.7120 | None | gnomAD-4.0.0 | 6.57142E-06 | |
3477 | 13 | H/R | 18 | rs1158438965 | 0.7120 | None | gnomAD-4.0.0 | 1.59167E-06 | |
3478 | 14 | N/D | 23 | rs771324532 | 0.3520 | None | gnomAD-2.1.1 | 4.02E-06 | |
3478 | 14 | N/D | 23 | rs771324532 | 0.3520 | None | gnomAD-4.0.0 | 1.59162E-06 | |
3478 | 14 | N/K | 23 | None | 0.3520 | None | gnomAD-4.0.0 | 1.36854E-06 | |
3478 | 14 | N/S | 23 | None | 0.3520 | None | gnomAD-4.0.0 | 1.20034E-06 | |
3479 | 15 | G/R | 24 | rs746691102 | 0.2562 | None | gnomAD-2.1.1 | 6.79E-05 | |
3479 | 15 | G/R | 24 | rs746691102 | 0.2562 | None | gnomAD-3.1.2 | 5.26E-05 | |
3479 | 15 | G/R | 24 | rs746691102 | 0.2562 | None | gnomAD-4.0.0 | 7.1275E-05 | |
3480 | 16 | E/D | 25 | rs267599081 | 0.4498 | None | gnomAD-2.1.1 | 8.04E-06 | |
3480 | 16 | E/D | 25 | rs267599081 | 0.4498 | None | gnomAD-4.0.0 | 2.05275E-06 | |
3480 | 16 | E/V | 25 | rs1023713962 | 0.4498 | None | gnomAD-2.1.1 | 8.04E-06 | |
3480 | 16 | E/V | 25 | rs1023713962 | 0.4498 | None | gnomAD-4.0.0 | 1.77899E-05 | |
3481 | 17 | T/A | 26 | rs748619545 | 0.4388 | None | gnomAD-2.1.1 | 4.02E-06 | |
3481 | 17 | T/A | 26 | rs748619545 | 0.4388 | None | gnomAD-4.0.0 | 1.59133E-06 | |
3482 | 18 | V/I | 28 | rs1553970119 | 0.1186 | None | gnomAD-4.0.0 | 2.73693E-06 | |
3484 | 20 | F/I | 30 | rs1031005572 | 0.1024 | None | gnomAD-2.1.1 | 4.02E-06 | |
3484 | 20 | F/I | 30 | rs1031005572 | 0.1024 | None | gnomAD-3.1.2 | 6.57E-06 | |
3484 | 20 | F/I | 30 | rs1031005572 | 0.1024 | None | gnomAD-4.0.0 | 6.57212E-06 | |
3484 | 20 | F/Y | 30 | rs757971157 | 0.1024 | None | gnomAD-2.1.1 | 4.02E-06 | |
3484 | 20 | F/Y | 30 | rs757971157 | 0.1024 | None | gnomAD-4.0.0 | 3.18261E-06 | |
3485 | 21 | H/N | 31 | rs376698955 | 0.3381 | None | gnomAD-2.1.1 | 4.02E-06 | |
3485 | 21 | H/P | 31 | None | 0.3381 | None | gnomAD-4.0.0 | 4.8013E-06 | |
3486 | 22 | A/E | 33 | rs374093805 | 0.0972 | None | gnomAD-2.1.1 | 4.02E-06 | |
3486 | 22 | A/E | 33 | rs374093805 | 0.0972 | None | gnomAD-4.0.0 | 1.36845E-06 | |
3486 | 22 | A/T | 33 | rs2087755569 | 0.0972 | None | gnomAD-3.1.2 | 6.57E-06 | |
3486 | 22 | A/T | 33 | rs2087755569 | 0.0972 | None | gnomAD-4.0.0 | 6.57298E-06 | |
3486 | 22 | A/V | 33 | rs374093805 | 0.0972 | None | gnomAD-2.1.1 | 1.67779E-04 | |
3486 | 22 | A/V | 33 | rs374093805 | 0.0972 | None | gnomAD-3.1.2 | 3.29E-05 | |
3486 | 22 | A/V | 33 | rs374093805 | 0.0972 | None | 1000 genomes | 1.99681E-04 | |
3486 | 22 | A/V | 33 | rs374093805 | 0.0972 | None | gnomAD-4.0.0 | 7.684E-05 | |
3487 | 23 | R/G | 34 | rs547792470 | 0.3762 | None | gnomAD-2.1.1 | 2.41E-05 | |
3487 | 23 | R/G | 34 | rs547792470 | 0.3762 | None | gnomAD-3.1.2 | 6.57E-06 | |
3487 | 23 | R/G | 34 | rs547792470 | 0.3762 | None | 1000 genomes | 1.99681E-04 | |
3487 | 23 | R/G | 34 | rs547792470 | 0.3762 | None | gnomAD-4.0.0 | 4.95719E-06 | |
3487 | 23 | R/K | 34 | rs531271853 | 0.3762 | None | gnomAD-2.1.1 | 4.02E-06 | |
3487 | 23 | R/K | 34 | rs531271853 | 0.3762 | None | gnomAD-3.1.2 | 6.57E-06 | |
3487 | 23 | R/K | 34 | rs531271853 | 0.3762 | None | 1000 genomes | 1.99681E-04 | |
3487 | 23 | R/K | 34 | rs531271853 | 0.3762 | None | gnomAD-4.0.0 | 6.56823E-06 | |
3487 | 23 | R/S | 34 | None | 0.3762 | None | gnomAD-4.0.0 | 1.59121E-06 | |
3487 | 23 | R/T | 34 | rs531271853 | 0.3762 | None | gnomAD-3.1.2 | 6.57E-06 | |
3487 | 23 | R/T | 34 | rs531271853 | 0.3762 | None | gnomAD-4.0.0 | 6.57333E-06 | |
3488 | 24 | V/F | 35 | None | 0.2436 | None | gnomAD-4.0.0 | 1.59129E-06 | |
3490 | 26 | G/D | 40 | rs970694174 | 0.2994 | None | gnomAD-2.1.1 | 3.19E-05 | |
3490 | 26 | G/D | 40 | rs970694174 | 0.2994 | None | gnomAD-3.1.2 | 6.57E-06 | |
3490 | 26 | G/D | 40 | rs970694174 | 0.2994 | None | gnomAD-4.0.0 | 6.57454E-06 | |
3490 | 26 | G/S | 40 | rs2087749364 | 0.2994 | None | gnomAD-4.0.0 | 5.47355E-06 | |
3491 | 27 | I/V | 41 | None | 0.6797 | None | gnomAD-4.0.0 | 1.20033E-06 | |
3492 | 28 | P/L | 42 | rs1418266828 | 0.4852 | None | gnomAD-2.1.1 | 8.04E-06 | |
3492 | 28 | P/L | 42 | rs1418266828 | 0.4852 | None | gnomAD-4.0.0 | 4.77328E-06 | |
3492 | 28 | P/T | 42 | rs1297125768 | 0.4852 | None | gnomAD-2.1.1 | 4.02E-06 | |
3492 | 28 | P/T | 42 | rs1297125768 | 0.4852 | None | gnomAD-4.0.0 | 1.59111E-06 | |
3493 | 29 | K/Q | 43 | None | 0.8376 | None | gnomAD-4.0.0 | 1.59108E-06 | |
3494 | 30 | P/A | 44 | rs1561101666 | 0.1640 | None | gnomAD-2.1.1 | 4.02E-06 | |
3494 | 30 | P/A | 44 | rs1561101666 | 0.1640 | None | gnomAD-4.0.0 | 1.5911E-06 | |
3495 | 31 | E/D | 45 | None | 0.5988 | None | gnomAD-4.0.0 | 3.60097E-06 | |
3497 | 33 | Q/R | 47 | None | 0.2382 | None | gnomAD-4.0.0 | 1.59111E-06 | |
3498 | 34 | W/C | 48 | None | 0.1117 | None | gnomAD-4.0.0 | 6.84182E-07 | |
3501 | 37 | N/K | 51 | None | 0.4278 | None | gnomAD-4.0.0 | 6.84197E-07 | |
3501 | 37 | N/S | 51 | None | 0.4278 | None | gnomAD-4.0.0 | 1.20037E-06 | |
3502 | 38 | Q/H | 52 | None | 0.8310 | None | gnomAD-4.0.0 | 1.59111E-06 | |
3503 | 39 | Q/K | 55 | rs766605515 | 0.3526 | None | gnomAD-2.1.1 | 4.02E-06 | |
3503 | 39 | Q/K | 55 | rs766605515 | 0.3526 | None | gnomAD-4.0.0 | 3.18222E-06 | |
3503 | 39 | Q/P | 55 | rs2087738229 | 0.3526 | None | gnomAD-3.1.2 | 6.57E-06 | |
3503 | 39 | Q/P | 55 | rs2087738229 | 0.3526 | None | gnomAD-4.0.0 | 2.02992E-06 | |
3505 | 41 | I/M | 58 | rs763190523 | 0.1084 | None | gnomAD-2.1.1 | 1.07E-05 | |
3505 | 41 | I/M | 58 | rs763190523 | 0.1084 | None | gnomAD-4.0.0 | 2.3947E-05 | |
3505 | 41 | I/V | 58 | rs1416675035 | 0.1084 | None | gnomAD-3.1.2 | 6.57E-06 | |
3505 | 41 | I/V | 58 | rs1416675035 | 0.1084 | None | gnomAD-4.0.0 | 2.03002E-06 | |
3507 | 43 | P/L | 70 | rs1161132850 | 0.3961 | None | gnomAD-4.0.0 | 4.78932E-06 | |
3507 | 43 | P/S | 70 | rs773449874 | 0.3961 | None | gnomAD-2.1.1 | 1.21E-05 | |
3507 | 43 | P/S | 70 | rs773449874 | 0.3961 | None | gnomAD-3.1.2 | 1.31E-05 | |
3507 | 43 | P/S | 70 | rs773449874 | 0.3961 | None | gnomAD-4.0.0 | 3.03655E-05 | |
3508 | 44 | T/A | 73 | None | 0.5845 | None | gnomAD-4.0.0 | 3.42092E-06 | |
3508 | 44 | T/I | 73 | rs397517823 | 0.5845 | None | gnomAD-3.1.2 | 6.57E-06 | |
3508 | 44 | T/I | 73 | rs397517823 | 0.5845 | None | gnomAD-4.0.0 | 9.29552E-06 | |
3508 | 44 | T/K | 73 | rs397517823 | 0.5845 | None | gnomAD-2.1.1 | 3.19E-05 | |
3508 | 44 | T/K | 73 | rs397517823 | 0.5845 | None | gnomAD-3.1.2 | 6.57E-06 | |
3508 | 44 | T/K | 73 | rs397517823 | 0.5845 | None | gnomAD-4.0.0 | 6.57402E-06 | |
3508 | 44 | T/P | 73 | None | 0.5845 | None | gnomAD-4.0.0 | 1.36837E-06 | |
3508 | 44 | T/R | 73 | None | 0.5845 | None | gnomAD-4.0.0 | 6.84198E-07 | |
3510 | 46 | D/E | 115 | None | 0.2520 | None | gnomAD-4.0.0 | 1.20034E-06 | |
3510 | 46 | D/Y | 115 | rs770135769 | 0.2520 | None | gnomAD-3.1.2 | 6.57E-06 | |
3510 | 46 | D/Y | 115 | rs770135769 | 0.2520 | None | gnomAD-4.0.0 | 2.56212E-06 | |
3511 | 47 | V/A | 121 | None | 0.6656 | None | gnomAD-4.0.0 | 1.59114E-06 | |
3512 | 48 | V/A | 122 | rs200918396 | 0.2466 | None | gnomAD-2.1.1 | 4.64E-05 | |
3512 | 48 | V/A | 122 | rs200918396 | 0.2466 | None | gnomAD-3.1.2 | 1.05193E-04 | |
3512 | 48 | V/A | 122 | rs200918396 | 0.2466 | None | gnomAD-4.0.0 | 1.61122E-05 | |
3512 | 48 | V/I | 122 | rs748663632 | 0.2466 | None | gnomAD-2.1.1 | 4.02E-06 | |
3512 | 48 | V/I | 122 | rs748663632 | 0.2466 | None | gnomAD-4.0.0 | 3.18228E-06 | |
3513 | 49 | F/L | 123 | rs771751290 | 0.1047 | None | gnomAD-2.1.1 | 1.39142E-04 | |
3513 | 49 | F/L | 123 | rs771751290 | 0.1047 | None | gnomAD-3.1.2 | 2.63E-05 | |
3513 | 49 | F/L | 123 | rs771751290 | 0.1047 | None | gnomAD-4.0.0 | 1.98297E-05 | |
3513 | 49 | F/V | 123 | rs771751290 | 0.1047 | None | gnomAD-3.1.2 | 6.57E-06 | |
3513 | 49 | F/V | 123 | rs771751290 | 0.1047 | None | gnomAD-4.0.0 | 6.57237E-06 | |
3514 | 50 | H/R | 125 | None | 0.5711 | None | gnomAD-4.0.0 | 2.05257E-06 | |
3515 | 51 | F/V | 127 | None | 0.2502 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3516 | 52 | E/K | 128 | None | 0.5809 | None | gnomAD-4.0.0 | 2.05257E-06 | |
3517 | 53 | E/K | 129 | None | 0.3018 | None | gnomAD-4.0.0 | 6.84192E-07 | |
3518 | 54 | S/C | 130 | rs1277243327 | 0.4743 | None | gnomAD-2.1.1 | 4.02E-06 | |
3518 | 54 | S/C | 130 | rs1277243327 | 0.4743 | None | gnomAD-4.0.0 | 1.59115E-06 | |
3518 | 54 | S/T | 130 | rs745350155 | 0.4743 | None | gnomAD-2.1.1 | 4.02E-06 | |
3518 | 54 | S/T | 130 | rs745350155 | 0.4743 | None | gnomAD-4.0.0 | 3.18232E-06 | |
3519 | 55 | T/A | 131 | rs1459818579 | 0.6880 | None | gnomAD-2.1.1 | 3.18E-05 | |
3520 | 56 | G/D | 134 | None | 0.2778 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3520 | 56 | G/S | 134 | rs375297413 | 0.2778 | None | gnomAD-4.0.0 | 2.40064E-06 | |
3522 | 58 | A/T | 136 | rs794729587 | 0.1018 | None | gnomAD-4.0.0 | 4.10523E-06 | |
3524 | 60 | M/I | 138 | rs1049058784 | 0.0490 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3524 | 60 | M/L | 138 | None | 0.0490 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3526 | 62 | I/K | 140 | rs727503677 | 0.1098 | None | gnomAD-2.1.1 | 4.02E-06 | |
3526 | 62 | I/K | 140 | rs727503677 | 0.1098 | None | gnomAD-4.0.0 | 6.84224E-07 | |
3526 | 62 | I/T | 140 | rs727503677 | 0.1098 | None | gnomAD-4.0.0 | 2.7369E-06 | |
3526 | 62 | I/V | 140 | None | 0.1098 | None | gnomAD-4.0.0 | 2.40064E-06 | |
3527 | 63 | V/A | 141 | rs1355094541 | 0.3182 | None | gnomAD-3.1.2 | 6.57E-06 | |
3527 | 63 | V/A | 141 | rs1355094541 | 0.3182 | None | gnomAD-4.0.0 | 6.56901E-06 | |
3527 | 63 | V/F | 141 | rs372531162 | 0.3182 | None | gnomAD-2.1.1 | 9.56E-05 | |
3527 | 63 | V/F | 141 | rs372531162 | 0.3182 | None | gnomAD-3.1.2 | 7.89E-05 | |
3527 | 63 | V/F | 141 | rs372531162 | 0.3182 | None | gnomAD-4.0.0 | 9.91522E-06 | |
3527 | 63 | V/I | 141 | None | 0.3182 | None | gnomAD-4.0.0 | 1.36846E-06 | |
3527 | 63 | V/L | 141 | rs372531162 | 0.3182 | None | gnomAD-2.1.1 | 7.14E-06 | |
3527 | 63 | V/L | 141 | rs372531162 | 0.3182 | None | gnomAD-4.0.0 | 5.47385E-06 | |
3528 | 64 | D/Y | 143 | None | 0.4407 | None | gnomAD-4.0.0 | 1.59155E-06 | |
3529 | 65 | A/V | 144 | None | 0.0732 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3530 | 66 | Y/C | 145 | None | 0.4352 | None | gnomAD-4.0.0 | 2.05276E-06 | |
3530 | 66 | Y/F | 145 | rs755931621 | 0.4352 | None | gnomAD-2.1.1 | 1.21E-05 | |
3530 | 66 | Y/F | 145 | rs755931621 | 0.4352 | None | gnomAD-3.1.2 | 6.57E-06 | |
3530 | 66 | Y/F | 145 | rs755931621 | 0.4352 | None | gnomAD-4.0.0 | 2.47891E-06 | |
3531 | 67 | S/L | 146 | None | 0.6283 | None | gnomAD-4.0.0 | 1.59152E-06 | |
3531 | 67 | S/T | 146 | rs1422997760 | 0.6283 | None | gnomAD-2.1.1 | 4.02E-06 | |
3531 | 67 | S/T | 146 | rs1422997760 | 0.6283 | None | gnomAD-4.0.0 | 3.18301E-06 | |
3532 | 68 | E/D | 148 | rs368855843 | 0.9003 | None | gnomAD-2.1.1 | 8.05E-06 | |
3532 | 68 | E/D | 148 | rs368855843 | 0.9003 | None | gnomAD-3.1.2 | 1.31E-05 | |
3532 | 68 | E/D | 148 | rs368855843 | 0.9003 | None | gnomAD-4.0.0 | 1.9214E-05 | |
3532 | 68 | E/K | 148 | rs2087705976 | 0.9003 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3533 | 69 | H/P | 149 | None | 0.2341 | None | gnomAD-4.0.0 | 1.59176E-06 | |
3533 | 69 | H/Q | 149 | rs1351766559 | 0.2341 | None | gnomAD-4.0.0 | 1.59185E-06 | |
3534 | 70 | A/S | 151 | rs1205126810 | 0.2223 | None | gnomAD-3.1.2 | 6.57E-06 | |
3534 | 70 | A/S | 151 | rs1205126810 | 0.2223 | None | gnomAD-4.0.0 | 6.56978E-06 | |
3535 | 71 | G/A | 152 | None | 0.2166 | None | gnomAD-4.0.0 | 1.59265E-06 | |
3535 | 71 | G/E | 152 | None | 0.2166 | None | gnomAD-4.0.0 | 1.59265E-06 | |
3535 | 71 | G/R | 152 | rs374978923 | 0.2166 | None | gnomAD-2.1.1 | 1.21E-05 | |
3535 | 71 | G/R | 152 | rs374978923 | 0.2166 | None | gnomAD-4.0.0 | 1.16353E-05 | |
3537 | 73 | Y/C | 154 | rs2087695492 | 0.1249 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3537 | 73 | Y/H | 154 | rs1553969617 | 0.1249 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3539 | 75 | C/S | 156 | rs750647730 | 0.0760 | None | gnomAD-2.1.1 | 4.05E-06 | |
3539 | 75 | C/S | 156 | rs750647730 | 0.0760 | None | gnomAD-3.1.2 | 6.57E-06 | |
3539 | 75 | C/S | 156 | rs750647730 | 0.0760 | None | gnomAD-4.0.0 | 1.24271E-06 | |
3539 | 75 | C/W | 156 | None | 0.0760 | None | gnomAD-4.0.0 | 6.86226E-07 | |
3539 | 75 | C/Y | 156 | None | 0.0760 | None | gnomAD-4.0.0 | 1.37246E-06 | |
3541 | 77 | A/P | 158 | rs762211144 | 0.1003 | None | gnomAD-4.0.0 | 1.6053E-05 | |
3542 | 78 | A/V | 159 | None | 0.1785 | None | gnomAD-4.0.0 | 3.21352E-06 | |
3543 | 79 | N/S | 161 | rs777330837 | 0.1730 | None | gnomAD-2.1.1 | 3.24E-05 | |
3543 | 79 | N/S | 161 | rs777330837 | 0.1730 | None | gnomAD-3.1.2 | 1.31E-05 | |
3543 | 79 | N/S | 161 | rs777330837 | 0.1730 | None | gnomAD-4.0.0 | 9.95109E-06 | |
3544 | 80 | S/G | 162 | rs1364238345 | 0.8573 | None | gnomAD-3.1.2 | 6.57E-06 | |
3544 | 80 | S/G | 162 | rs1364238345 | 0.8573 | None | gnomAD-4.0.0 | 6.57091E-06 | |
3545 | 81 | A/V | 163 | rs1319587121 | 0.6306 | None | gnomAD-2.1.1 | 4.08E-06 | |
3545 | 81 | A/V | 163 | rs1319587121 | 0.6306 | None | gnomAD-4.0.0 | 4.84287E-06 | |
3546 | 82 | G/E | 164 | None | 0.2792 | None | gnomAD-4.0.0 | 2.75712E-06 | |
3547 | 83 | E/K | 165 | rs761225274 | 0.6357 | None | gnomAD-4.0.0 | 1.58622E-05 | |
3548 | 84 | A/G | 166 | rs1386570246 | 0.1592 | None | gnomAD-2.1.1 | 4.16E-06 | |
3548 | 84 | A/G | 166 | rs1386570246 | 0.1592 | None | gnomAD-4.0.0 | 1.63618E-06 | |
3548 | 84 | A/T | 166 | rs1186138216 | 0.1592 | None | gnomAD-2.1.1 | 3.19E-05 | |
3548 | 84 | A/T | 166 | rs1186138216 | 0.1592 | None | gnomAD-3.1.2 | 6.57E-06 | |
3548 | 84 | A/T | 166 | rs1186138216 | 0.1592 | None | gnomAD-4.0.0 | 6.57073E-06 | |
3549 | 85 | T/I | 168 | rs770691573 | 0.2964 | None | gnomAD-2.1.1 | 4.18E-06 | |
3549 | 85 | T/I | 168 | rs770691573 | 0.2964 | None | gnomAD-3.1.2 | 1.31E-05 | |
3549 | 85 | T/I | 168 | rs770691573 | 0.2964 | None | gnomAD-4.0.0 | 2.25601E-05 | |
3549 | 85 | T/S | 168 | rs770691573 | 0.2964 | None | gnomAD-2.1.1 | 4.18E-06 | |
3549 | 85 | T/S | 168 | rs770691573 | 0.2964 | None | gnomAD-4.0.0 | 6.92721E-07 | |
3551 | 87 | A/V | 171 | rs2154335907 | 0.4966 | None | gnomAD-4.0.0 | 1.64654E-06 | |
3552 | 88 | A/P | 172 | rs774004409 | 0.1429 | None | gnomAD-2.1.1 | 4.12E-05 | |
3552 | 88 | A/P | 172 | rs774004409 | 0.1429 | None | gnomAD-3.1.2 | 5.26E-05 | |
3552 | 88 | A/P | 172 | rs774004409 | 0.1429 | None | gnomAD-4.0.0 | 8.55714E-05 | |
3553 | 89 | T/I | 173 | rs770418018 | 0.4297 | None | gnomAD-2.1.1 | 7.56E-06 | |
3553 | 89 | T/I | 173 | rs770418018 | 0.4297 | None | gnomAD-3.1.2 | 6.57E-06 | |
3553 | 89 | T/I | 173 | rs770418018 | 0.4297 | None | gnomAD-4.0.0 | 1.89115E-06 | |
3554 | 90 | L/F | 174 | rs1467211206 | 0.0823 | None | gnomAD-2.1.1 | 4.3E-06 | |
3554 | 90 | L/F | 174 | rs1467211206 | 0.0823 | None | gnomAD-4.0.0 | 1.39574E-06 | |
3554 | 90 | L/H | 174 | None | 0.0823 | None | gnomAD-4.0.0 | 2.0977E-06 | |
3555 | 91 | T/I | 175 | None | 0.3362 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3556 | 92 | V/M | 177 | rs1039409681 | 0.4173 | None | gnomAD-2.1.1 | 3.19E-05 | |
3556 | 92 | V/M | 177 | rs1039409681 | 0.4173 | None | gnomAD-3.1.2 | 6.57E-06 | |
3556 | 92 | V/M | 177 | rs1039409681 | 0.4173 | None | gnomAD-4.0.0 | 5.39533E-06 |