10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
28358 | 1 | M/I | 1 | rs973736756 | 0.8149 | None | gnomAD-4.0.0 | 1.36835E-06 | |
28358 | 1 | M/K | 1 | None | 0.8149 | None | gnomAD-2.1.1 | 4.02E-06 | |
28358 | 1 | M/L | 1 | rs368069666 | 0.8149 | None | gnomAD-2.1.1 | 1.79E-05 | |
28358 | 1 | M/L | 1 | rs368069666 | 0.8149 | None | gnomAD-3.1.2 | 1.97E-05 | |
28358 | 1 | M/L | 1 | rs368069666 | 0.8149 | None | gnomAD-4.0.0 | 2.85046E-05 | |
28358 | 1 | M/R | 1 | rs766947305 | 0.8149 | None | gnomAD-4.0.0 | 1.36836E-06 | |
28358 | 1 | M/T | 1 | rs766947305 | 0.8149 | None | gnomAD-2.1.1 | 4.02E-06 | |
28358 | 1 | M/T | 1 | rs766947305 | 0.8149 | None | gnomAD-4.0.0 | 2.05254E-06 | |
28359 | 2 | M/I | 2 | rs773774387 | 0.3013 | None | gnomAD-2.1.1 | 4.02E-06 | |
28359 | 2 | M/I | 2 | rs773774387 | 0.3013 | None | gnomAD-3.1.2 | 6.57E-06 | |
28359 | 2 | M/I | 2 | rs773774387 | 0.3013 | None | gnomAD-4.0.0 | 1.59109E-06 | |
28359 | 2 | M/R | 2 | rs763428327 | 0.3013 | None | gnomAD-2.1.1 | 4.02E-06 | |
28359 | 2 | M/R | 2 | rs763428327 | 0.3013 | None | gnomAD-4.0.0 | 6.84172E-07 | |
28359 | 2 | M/T | 2 | None | 0.3013 | None | gnomAD-4.0.0 | 2.05252E-06 | |
28360 | 3 | D/H | 3 | None | 0.3466 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28361 | 4 | V/A | 4 | rs1428136058 | 0.6810 | None | gnomAD-2.1.1 | 4.02E-06 | |
28361 | 4 | V/A | 4 | rs1428136058 | 0.6810 | None | gnomAD-4.0.0 | 4.77321E-06 | |
28364 | 7 | R/P | 8 | None | 0.7932 | None | gnomAD-4.0.0 | 6.84175E-07 | |
28364 | 7 | R/Q | 8 | rs376283153 | 0.7932 | None | gnomAD-2.1.1 | 1.50035E-04 | |
28364 | 7 | R/Q | 8 | rs376283153 | 0.7932 | None | gnomAD-3.1.2 | 1.44617E-04 | |
28364 | 7 | R/Q | 8 | rs376283153 | 0.7932 | None | gnomAD-4.0.0 | 4.77152E-05 | |
28365 | 8 | D/H | 9 | rs774971602 | 0.7821 | None | gnomAD-2.1.1 | 1.61E-05 | |
28365 | 8 | D/H | 9 | rs774971602 | 0.7821 | None | gnomAD-3.1.2 | 6.57E-06 | |
28365 | 8 | D/H | 9 | rs774971602 | 0.7821 | None | gnomAD-4.0.0 | 7.43607E-06 | |
28366 | 9 | V/A | 11 | rs1003730939 | 0.5006 | None | gnomAD-4.0.0 | 1.59109E-06 | |
28366 | 9 | V/I | 11 | rs367800789 | 0.5006 | None | gnomAD-2.1.1 | 3.22E-05 | |
28366 | 9 | V/I | 11 | rs367800789 | 0.5006 | None | gnomAD-3.1.2 | 1.31E-05 | |
28366 | 9 | V/I | 11 | rs367800789 | 0.5006 | None | gnomAD-4.0.0 | 3.65613E-05 | |
28367 | 10 | I/F | 13 | None | 0.1971 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28367 | 10 | I/T | 13 | rs1199614118 | 0.1971 | None | gnomAD-2.1.1 | 4.02E-06 | |
28367 | 10 | I/T | 13 | rs1199614118 | 0.1971 | None | gnomAD-3.1.2 | 6.57E-06 | |
28367 | 10 | I/T | 13 | rs1199614118 | 0.1971 | None | gnomAD-4.0.0 | 3.84294E-06 | |
28367 | 10 | I/V | 13 | None | 0.1971 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28368 | 11 | V/A | 14 | None | 0.4412 | None | gnomAD-4.0.0 | 1.59107E-06 | |
28368 | 11 | V/F | 14 | rs879238395 | 0.4412 | None | gnomAD-2.1.1 | 3.19E-05 | |
28368 | 11 | V/F | 14 | rs879238395 | 0.4412 | None | gnomAD-3.1.2 | 6.57E-06 | |
28368 | 11 | V/F | 14 | rs879238395 | 0.4412 | None | gnomAD-4.0.0 | 4.33777E-06 | |
28368 | 11 | V/I | 14 | None | 0.4412 | None | gnomAD-4.0.0 | 6.84179E-07 | |
28369 | 12 | V/A | 16 | None | 0.1618 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28369 | 12 | V/D | 16 | rs1703451641 | 0.1618 | None | gnomAD-3.1.2 | 6.57E-06 | |
28369 | 12 | V/D | 16 | rs1703451641 | 0.1618 | None | gnomAD-4.0.0 | 2.02995E-06 | |
28370 | 13 | K/R | 18 | rs1316361788 | 0.6218 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28372 | 15 | G/E | 24 | rs190721759 | 0.3397 | None | gnomAD-2.1.1 | 1.28618E-04 | |
28372 | 15 | G/E | 24 | rs190721759 | 0.3397 | None | gnomAD-3.1.2 | 5.92E-05 | |
28372 | 15 | G/E | 24 | rs190721759 | 0.3397 | None | 1000 genomes | 1.99681E-04 | |
28372 | 15 | G/E | 24 | rs190721759 | 0.3397 | None | gnomAD-4.0.0 | 3.24063E-04 | |
28372 | 15 | G/R | 24 | rs1323161898 | 0.3397 | None | gnomAD-2.1.1 | 4.02E-06 | |
28372 | 15 | G/R | 24 | rs1323161898 | 0.3397 | None | gnomAD-4.0.0 | 1.59109E-06 | |
28373 | 16 | E/D | 25 | rs770787056 | 0.3279 | None | gnomAD-2.1.1 | 2.5E-05 | |
28373 | 16 | E/D | 25 | rs770787056 | 0.3279 | None | gnomAD-3.1.2 | 1.97E-05 | |
28373 | 16 | E/D | 25 | rs770787056 | 0.3279 | None | gnomAD-4.0.0 | 1.7971E-05 | |
28374 | 17 | V/A | 26 | rs777681919 | 0.3560 | None | gnomAD-2.1.1 | 4.02E-06 | |
28374 | 17 | V/A | 26 | rs777681919 | 0.3560 | None | gnomAD-4.0.0 | 1.59111E-06 | |
28374 | 17 | V/D | 26 | rs777681919 | 0.3560 | None | gnomAD-2.1.1 | 1.21E-05 | |
28374 | 17 | V/D | 26 | rs777681919 | 0.3560 | None | gnomAD-4.0.0 | 9.54666E-06 | |
28374 | 17 | V/I | 26 | None | 0.3560 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28376 | 19 | K/Q | 29 | rs755843409 | 0.5328 | None | gnomAD-2.1.1 | 1.21E-05 | |
28376 | 19 | K/Q | 29 | rs755843409 | 0.5328 | None | gnomAD-3.1.2 | 6.57E-06 | |
28376 | 19 | K/Q | 29 | rs755843409 | 0.5328 | None | gnomAD-4.0.0 | 2.04492E-05 | |
28376 | 19 | K/T | 29 | None | 0.5328 | None | gnomAD-4.0.0 | 7.20195E-06 | |
28377 | 20 | I/T | 30 | rs876658089 | 0.0951 | None | gnomAD-2.1.1 | 7.15E-06 | |
28377 | 20 | I/T | 30 | rs876658089 | 0.0951 | None | gnomAD-3.1.2 | 1.31E-05 | |
28377 | 20 | I/T | 30 | rs876658089 | 0.0951 | None | gnomAD-4.0.0 | 5.12418E-06 | |
28378 | 21 | N/K | 31 | rs1575618109 | 0.3909 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28378 | 21 | N/S | 31 | None | 0.3909 | None | gnomAD-4.0.0 | 1.59115E-06 | |
28378 | 21 | N/Y | 31 | rs1165610195 | 0.3909 | None | gnomAD-4.0.0 | 5.47351E-06 | |
28380 | 23 | D/H | 34 | None | 0.5202 | None | gnomAD-4.0.0 | 6.84193E-07 | |
28380 | 23 | D/N | 34 | rs1703440197 | 0.5202 | None | gnomAD-4.0.0 | 6.84193E-07 | |
28383 | 26 | G/R | 40 | rs1333175409 | 0.3627 | None | gnomAD-2.1.1 | 4.03E-06 | |
28383 | 26 | G/R | 40 | rs1333175409 | 0.3627 | None | gnomAD-3.1.2 | 6.57E-06 | |
28383 | 26 | G/R | 40 | rs1333175409 | 0.3627 | None | gnomAD-4.0.0 | 1.20033E-06 | |
28384 | 27 | R/Q | 41 | rs1465916943 | 0.9191 | None | gnomAD-2.1.1 | 8.05E-06 | |
28384 | 27 | R/Q | 41 | rs1465916943 | 0.9191 | None | gnomAD-3.1.2 | 1.31E-05 | |
28384 | 27 | R/Q | 41 | rs1465916943 | 0.9191 | None | gnomAD-4.0.0 | 8.05636E-06 | |
28387 | 30 | P/L | 44 | rs1415760093 | 0.1916 | None | gnomAD-2.1.1 | 4.03E-06 | |
28387 | 30 | P/L | 44 | rs1415760093 | 0.1916 | None | gnomAD-3.1.2 | 6.58E-06 | |
28387 | 30 | P/L | 44 | rs1415760093 | 0.1916 | None | gnomAD-4.0.0 | 6.40612E-06 | |
28387 | 30 | P/S | 44 | rs561992231 | 0.1916 | None | gnomAD-2.1.1 | 4.03E-06 | |
28387 | 30 | P/S | 44 | rs561992231 | 0.1916 | None | gnomAD-3.1.2 | 1.97E-05 | |
28387 | 30 | P/S | 44 | rs561992231 | 0.1916 | None | 1000 genomes | 1.99681E-04 | |
28387 | 30 | P/S | 44 | rs561992231 | 0.1916 | None | gnomAD-4.0.0 | 7.10468E-06 | |
28388 | 31 | V/E | 45 | rs1425261551 | 0.6432 | None | gnomAD-2.1.1 | 4.03E-06 | |
28388 | 31 | V/E | 45 | rs1425261551 | 0.6432 | None | gnomAD-4.0.0 | 3.1825E-06 | |
28389 | 32 | I/T | 46 | rs755134776 | 0.2996 | None | gnomAD-2.1.1 | 4.03E-06 | |
28389 | 32 | I/T | 46 | rs755134776 | 0.2996 | None | gnomAD-4.0.0 | 2.40064E-06 | |
28390 | 33 | S/F | 47 | rs267599032 | 0.3501 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28394 | 37 | D/E | 51 | rs1703423853 | 0.5135 | None | gnomAD-4.0.0 | 3.18256E-06 | |
28394 | 37 | D/G | 51 | rs751635229 | 0.5135 | None | gnomAD-2.1.1 | 8.05E-06 | |
28394 | 37 | D/G | 51 | rs751635229 | 0.5135 | None | gnomAD-4.0.0 | 4.77386E-06 | |
28395 | 38 | G/S | 52 | None | 0.5506 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28395 | 38 | G/V | 52 | rs2154159192 | 0.5506 | None | gnomAD-4.0.0 | 1.36844E-06 | |
28396 | 39 | I/T | 55 | rs371320129 | 0.7915 | None | gnomAD-2.1.1 | 8.05E-06 | |
28396 | 39 | I/T | 55 | rs371320129 | 0.7915 | None | gnomAD-3.1.2 | 6.57E-06 | |
28396 | 39 | I/T | 55 | rs371320129 | 0.7915 | None | gnomAD-4.0.0 | 1.85915E-06 | |
28396 | 39 | I/V | 55 | rs1703421976 | 0.7915 | None | gnomAD-4.0.0 | 1.59128E-06 | |
28397 | 40 | E/D | 56 | None | 0.7258 | None | gnomAD-4.0.0 | 1.36841E-06 | |
28398 | 41 | I/V | 58 | rs878970622 | 0.2235 | None | gnomAD-4.0.0 | 1.59124E-06 | |
28399 | 42 | E/K | 69 | rs397517732 | 0.6639 | None | gnomAD-2.1.1 | 1.21E-05 | |
28399 | 42 | E/K | 69 | rs397517732 | 0.6639 | None | gnomAD-3.1.2 | 6.57E-06 | |
28399 | 42 | E/K | 69 | rs397517732 | 0.6639 | None | gnomAD-4.0.0 | 2.85058E-05 | |
28400 | 43 | E/G | 70 | rs1179703111 | 0.7479 | None | gnomAD-2.1.1 | 4.02E-06 | |
28400 | 43 | E/G | 70 | rs1179703111 | 0.7479 | None | gnomAD-3.1.2 | 6.57E-06 | |
28400 | 43 | E/G | 70 | rs1179703111 | 0.7479 | None | gnomAD-4.0.0 | 1.85904E-06 | |
28401 | 44 | R/G | 73 | None | 0.6022 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28401 | 44 | R/K | 73 | None | 0.6022 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28402 | 45 | A/T | 102 | rs1060500439 | 0.8309 | None | gnomAD-3.1.2 | 6.57E-06 | |
28402 | 45 | A/T | 102 | rs1060500439 | 0.8309 | None | gnomAD-4.0.0 | 2.02998E-06 | |
28402 | 45 | A/V | 102 | None | 0.8309 | None | gnomAD-4.0.0 | 1.36842E-06 | |
28403 | 46 | R/T | 115 | rs750869245 | 0.3016 | None | gnomAD-2.1.1 | 2.41E-05 | |
28403 | 46 | R/T | 115 | rs750869245 | 0.3016 | None | gnomAD-4.0.0 | 1.1139E-05 | |
28404 | 47 | T/I | 121 | rs368218177 | 0.2633 | None | gnomAD-2.1.1 | 4.02E-06 | |
28404 | 47 | T/I | 121 | rs368218177 | 0.2633 | None | gnomAD-3.1.2 | 6.57E-06 | |
28404 | 47 | T/I | 121 | rs368218177 | 0.2633 | None | gnomAD-4.0.0 | 2.02998E-06 | |
28405 | 48 | E/V | 122 | None | 0.4668 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28406 | 49 | I/T | 123 | rs1559292657 | 0.2517 | None | gnomAD-2.1.1 | 4.02E-06 | |
28406 | 49 | I/T | 123 | rs1559292657 | 0.2517 | None | gnomAD-4.0.0 | 1.59134E-06 | |
28406 | 49 | I/V | 123 | rs1703410550 | 0.2517 | None | gnomAD-4.0.0 | 3.18258E-06 | |
28407 | 50 | I/F | 125 | None | 0.6055 | None | gnomAD-4.0.0 | 1.59131E-06 | |
28410 | 53 | D/E | 131 | rs762042364 | 0.7338 | None | gnomAD-2.1.1 | 4.02E-06 | |
28410 | 53 | D/E | 131 | rs762042364 | 0.7338 | None | gnomAD-3.1.2 | 6.57E-06 | |
28410 | 53 | D/E | 131 | rs762042364 | 0.7338 | None | gnomAD-4.0.0 | 6.40635E-06 | |
28410 | 53 | D/N | 131 | None | 0.7338 | None | gnomAD-4.0.0 | 1.59153E-06 | |
28410 | 53 | D/V | 131 | rs1425562025 | 0.7338 | None | gnomAD-2.1.1 | 3.18E-05 | |
28410 | 53 | D/V | 131 | rs1425562025 | 0.7338 | None | gnomAD-3.1.2 | 6.57E-06 | |
28410 | 53 | D/V | 131 | rs1425562025 | 0.7338 | None | gnomAD-4.0.0 | 6.5697E-06 | |
28411 | 54 | N/D | 134 | None | 0.6736 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28411 | 54 | N/S | 134 | rs1254349060 | 0.6736 | None | gnomAD-3.1.2 | 6.57E-06 | |
28411 | 54 | N/S | 134 | rs1254349060 | 0.6736 | None | gnomAD-4.0.0 | 6.56996E-06 | |
28413 | 56 | T/A | 136 | None | 0.1176 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28414 | 57 | L/S | 137 | rs775228620 | 0.2619 | None | gnomAD-2.1.1 | 4.02E-06 | |
28414 | 57 | L/S | 137 | rs775228620 | 0.2619 | None | gnomAD-3.1.2 | 6.57E-06 | |
28414 | 57 | L/S | 137 | rs775228620 | 0.2619 | None | gnomAD-4.0.0 | 6.57108E-06 | |
28414 | 57 | L/W | 137 | None | 0.2619 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28415 | 58 | L/F | 138 | None | 0.0940 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28417 | 60 | V/A | 140 | None | 0.1400 | None | gnomAD-4.0.0 | 2.40064E-06 | |
28418 | 61 | K/E | 141 | None | 0.4540 | None | gnomAD-4.0.0 | 1.59151E-06 | |
28418 | 61 | K/N | 141 | rs759051213 | 0.4540 | None | gnomAD-2.1.1 | 4.02E-06 | |
28418 | 61 | K/N | 141 | rs759051213 | 0.4540 | None | gnomAD-4.0.0 | 1.59154E-06 | |
28419 | 62 | D/N | 143 | None | 0.6384 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28419 | 62 | D/Y | 143 | rs1703397478 | 0.6384 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28420 | 63 | C/R | 144 | rs773918512 | 0.0901 | None | gnomAD-2.1.1 | 1.43E-05 | |
28420 | 63 | C/R | 144 | rs773918512 | 0.0901 | None | gnomAD-3.1.2 | 6.57E-06 | |
28420 | 63 | C/R | 144 | rs773918512 | 0.0901 | None | gnomAD-4.0.0 | 5.12502E-06 | |
28421 | 64 | I/K | 145 | rs749273378 | 0.2647 | None | gnomAD-2.1.1 | 4.02E-06 | |
28421 | 64 | I/K | 145 | rs749273378 | 0.2647 | None | gnomAD-4.0.0 | 1.59154E-06 | |
28421 | 64 | I/T | 145 | rs749273378 | 0.2647 | None | gnomAD-3.1.2 | 6.57E-06 | |
28421 | 64 | I/T | 145 | rs749273378 | 0.2647 | None | gnomAD-4.0.0 | 2.56253E-06 | |
28421 | 64 | I/V | 145 | rs371356428 | 0.2647 | None | gnomAD-2.1.1 | 4.02E-06 | |
28421 | 64 | I/V | 145 | rs371356428 | 0.2647 | None | gnomAD-3.1.2 | 6.57E-06 | |
28421 | 64 | I/V | 145 | rs371356428 | 0.2647 | None | gnomAD-4.0.0 | 3.71833E-06 | |
28423 | 66 | R/Q | 148 | rs747851682 | 0.8035 | None | gnomAD-2.1.1 | 1.21E-05 | |
28423 | 66 | R/Q | 148 | rs747851682 | 0.8035 | None | gnomAD-3.1.2 | 1.97E-05 | |
28423 | 66 | R/Q | 148 | rs747851682 | 0.8035 | None | gnomAD-4.0.0 | 8.67662E-06 | |
28424 | 67 | D/G | 149 | rs879049486 | 0.1599 | None | gnomAD-4.0.0 | 4.78984E-06 | |
28425 | 68 | T/A | 151 | None | 0.2995 | None | gnomAD-4.0.0 | 6.00161E-06 | |
28426 | 69 | G/R | 152 | None | 0.1820 | None | gnomAD-4.0.0 | 1.59162E-06 | |
28429 | 72 | V/E | 155 | rs747216991 | 0.2262 | None | gnomAD-2.1.1 | 8.05E-06 | |
28429 | 72 | V/E | 155 | rs747216991 | 0.2262 | None | gnomAD-3.1.2 | 1.31E-05 | |
28429 | 72 | V/E | 155 | rs747216991 | 0.2262 | None | gnomAD-4.0.0 | 7.68748E-06 | |
28431 | 74 | T/I | 157 | rs780326294 | 0.2382 | None | gnomAD-2.1.1 | 4.02E-06 | |
28433 | 76 | K/N | 159 | rs1444500550 | 0.6060 | None | gnomAD-2.1.1 | 1.21E-05 | |
28433 | 76 | K/N | 159 | rs1444500550 | 0.6060 | None | gnomAD-3.1.2 | 1.31E-05 | |
28433 | 76 | K/N | 159 | rs1444500550 | 0.6060 | None | gnomAD-4.0.0 | 3.1832E-06 | |
28434 | 77 | N/T | 161 | rs758519100 | 0.1887 | None | gnomAD-2.1.1 | 7.15E-06 | |
28434 | 77 | N/T | 161 | rs758519100 | 0.1887 | None | gnomAD-3.1.2 | 1.97E-05 | |
28434 | 77 | N/T | 161 | rs758519100 | 0.1887 | None | gnomAD-4.0.0 | 5.0747E-06 | |
28435 | 78 | V/A | 162 | None | 0.8216 | None | gnomAD-4.0.0 | 2.05282E-06 | |
28436 | 79 | A/V | 163 | rs1559291915 | 0.7046 | None | gnomAD-2.1.1 | 3.19E-05 | |
28436 | 79 | A/V | 163 | rs1559291915 | 0.7046 | None | gnomAD-3.1.2 | 6.57E-06 | |
28436 | 79 | A/V | 163 | rs1559291915 | 0.7046 | None | gnomAD-4.0.0 | 6.57186E-06 | |
28437 | 80 | G/S | 164 | rs757770952 | 0.3398 | None | gnomAD-2.1.1 | 4.03E-06 | |
28437 | 80 | G/S | 164 | rs757770952 | 0.3398 | None | gnomAD-3.1.2 | 2.63E-05 | |
28437 | 80 | G/S | 164 | rs757770952 | 0.3398 | None | gnomAD-4.0.0 | 7.4373E-06 | |
28438 | 81 | T/S | 165 | None | 0.5157 | None | gnomAD-4.0.0 | 2.40064E-06 | |
28439 | 82 | R/L | 166 | rs764437671 | 0.7941 | None | gnomAD-2.1.1 | 4.03E-06 | |
28439 | 82 | R/L | 166 | rs764437671 | 0.7941 | None | gnomAD-4.0.0 | 1.23172E-05 | |
28439 | 82 | R/P | 166 | None | 0.7941 | None | gnomAD-4.0.0 | 1.36858E-06 | |
28439 | 82 | R/Q | 166 | rs764437671 | 0.7941 | None | gnomAD-2.1.1 | 3.22E-05 | |
28439 | 82 | R/Q | 166 | rs764437671 | 0.7941 | None | gnomAD-3.1.2 | 7.23E-05 | |
28439 | 82 | R/Q | 166 | rs764437671 | 0.7941 | None | gnomAD-4.0.0 | 2.60284E-05 | |
28439 | 82 | R/W | 166 | rs757653038 | 0.7941 | None | gnomAD-2.1.1 | 3.57E-05 | |
28439 | 82 | R/W | 166 | rs757653038 | 0.7941 | None | gnomAD-3.1.2 | 1.97E-05 | |
28439 | 82 | R/W | 166 | rs757653038 | 0.7941 | None | gnomAD-4.0.0 | 1.73534E-05 | |
28441 | 84 | V/A | 169 | None | 0.4812 | None | gnomAD-4.0.0 | 6.8427E-07 | |
28441 | 84 | V/G | 169 | rs759245283 | 0.4812 | None | gnomAD-2.1.1 | 4.03E-06 | |
28441 | 84 | V/G | 169 | rs759245283 | 0.4812 | None | gnomAD-4.0.0 | 6.15843E-06 | |
28442 | 85 | A/P | 171 | None | 0.3458 | None | gnomAD-4.0.0 | 1.59164E-06 | |
28442 | 85 | A/T | 171 | rs1440588329 | 0.3458 | None | gnomAD-3.1.2 | 6.57E-06 | |
28442 | 85 | A/T | 171 | rs1440588329 | 0.3458 | None | gnomAD-4.0.0 | 6.57091E-06 | |
28443 | 86 | V/D | 172 | rs1703365236 | 0.1539 | None | gnomAD-3.1.2 | 6.57E-06 | |
28443 | 86 | V/D | 172 | rs1703365236 | 0.1539 | None | gnomAD-4.0.0 | 3.84416E-06 | |
28443 | 86 | V/I | 172 | rs762332684 | 0.1539 | None | gnomAD-2.1.1 | 5.72E-05 | |
28443 | 86 | V/I | 172 | rs762332684 | 0.1539 | None | gnomAD-3.1.2 | 6.57E-06 | |
28443 | 86 | V/I | 172 | rs762332684 | 0.1539 | None | gnomAD-4.0.0 | 3.09875E-05 | |
28444 | 87 | N/D | 173 | None | 0.4822 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28445 | 88 | C/Y | 174 | rs773226749 | 0.1214 | None | gnomAD-2.1.1 | 2.82E-05 | |
28445 | 88 | C/Y | 174 | rs773226749 | 0.1214 | None | gnomAD-3.1.2 | 6.57E-05 | |
28445 | 88 | C/Y | 174 | rs773226749 | 0.1214 | None | gnomAD-4.0.0 | 1.17751E-05 | |
28446 | 89 | K/E | 175 | None | 0.6248 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28447 | 90 | V/L | 177 | rs1269228304 | 0.1436 | None | gnomAD-2.1.1 | 8.05E-06 | |
28447 | 90 | V/L | 177 | rs1269228304 | 0.1436 | None | gnomAD-4.0.0 | 3.18315E-06 |