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D | F | R | D | K | L | T | I | R | V | G | E | A | F | A | L | T | G | R | Y | S | G | K | P | K | P | K | V | S | W | F | K | D | E | A | D | V | L | E | D | D | R | T | H | I | K | T | T | P | A | T | L | A | L | E | K | I | K | A | K | R | S | D | S | G | K | Y | C | V | V | V | E | N | S | T | G | S | R | K | G | F | C | Q | V | N | V | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
19391 | 1 | D/N | 1 | rs377633051 | 0.7476 | None | gnomAD-2.1.1 | 4.66E-05 | |
19391 | 1 | D/N | 1 | rs377633051 | 0.7476 | None | gnomAD-3.1.2 | 9.21E-05 | |
19391 | 1 | D/N | 1 | rs377633051 | 0.7476 | None | gnomAD-4.0.0 | 1.55E-05 | |
19391 | 1 | D/Y | 1 | None | 0.7476 | None | gnomAD-4.0.0 | 6.84507E-07 | |
19393 | 3 | R/G | 8 | None | 0.8621 | None | gnomAD-4.0.0 | 4.80129E-06 | |
19395 | 5 | K/E | 11 | None | 0.5494 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19395 | 5 | K/N | 11 | None | 0.5494 | None | gnomAD-4.0.0 | 6.84404E-07 | |
19395 | 5 | K/R | 11 | None | 0.5494 | None | gnomAD-4.0.0 | 7.52852E-06 | |
19395 | 5 | K/T | 11 | rs1200343273 | 0.5494 | None | gnomAD-2.1.1 | 1.21E-05 | |
19395 | 5 | K/T | 11 | rs1200343273 | 0.5494 | None | gnomAD-4.0.0 | 2.05323E-06 | |
19396 | 6 | L/F | 13 | rs1277629300 | 0.3533 | None | gnomAD-2.1.1 | 8.07E-06 | |
19396 | 6 | L/F | 13 | rs1277629300 | 0.3533 | None | gnomAD-4.0.0 | 1.36879E-06 | |
19396 | 6 | L/P | 13 | rs1217157718 | 0.3533 | None | gnomAD-2.1.1 | 4.03E-06 | |
19396 | 6 | L/P | 13 | rs1217157718 | 0.3533 | None | gnomAD-4.0.0 | 2.7376E-06 | |
19397 | 7 | T/M | 14 | rs373527448 | 0.4525 | None | gnomAD-2.1.1 | 8.23E-05 | |
19397 | 7 | T/M | 14 | rs373527448 | 0.4525 | None | gnomAD-3.1.2 | 1.381E-04 | |
19397 | 7 | T/M | 14 | rs373527448 | 0.4525 | None | 1000 genomes | 1.99681E-04 | |
19397 | 7 | T/M | 14 | rs373527448 | 0.4525 | None | gnomAD-4.0.0 | 3.96696E-05 | |
19397 | 7 | T/P | 14 | None | 0.4525 | None | gnomAD-4.0.0 | 2.0417E-05 | |
19398 | 8 | I/V | 16 | rs375724247 | 0.1243 | None | gnomAD-3.1.2 | 6.58E-06 | |
19398 | 8 | I/V | 16 | rs375724247 | 0.1243 | None | gnomAD-4.0.0 | 3.04509E-06 | |
19399 | 9 | R/P | 18 | None | 0.4396 | None | gnomAD-4.0.0 | 2.05321E-06 | |
19399 | 9 | R/Q | 18 | rs759893392 | 0.4396 | None | gnomAD-2.1.1 | 4.03E-05 | |
19399 | 9 | R/Q | 18 | rs759893392 | 0.4396 | None | gnomAD-3.1.2 | 6.58E-06 | |
19399 | 9 | R/Q | 18 | rs759893392 | 0.4396 | None | gnomAD-4.0.0 | 3.84336E-05 | |
19400 | 10 | V/A | 23 | None | 0.3058 | None | gnomAD-4.0.0 | 4.10641E-06 | |
19400 | 10 | V/G | 23 | rs774737543 | 0.3058 | None | gnomAD-2.1.1 | 4.03E-06 | |
19400 | 10 | V/G | 23 | rs774737543 | 0.3058 | None | gnomAD-4.0.0 | 4.79081E-06 | |
19401 | 11 | G/S | 24 | rs764852395 | 0.2803 | None | gnomAD-2.1.1 | 1.61E-05 | |
19401 | 11 | G/S | 24 | rs764852395 | 0.2803 | None | gnomAD-4.0.0 | 7.9614E-06 | |
19401 | 11 | G/V | 24 | None | 0.2803 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19403 | 13 | A/G | 26 | rs573503792 | 0.3891 | None | gnomAD-2.1.1 | 2.15E-05 | |
19403 | 13 | A/G | 26 | rs573503792 | 0.3891 | None | gnomAD-3.1.2 | 5.92E-05 | |
19403 | 13 | A/G | 26 | rs573503792 | 0.3891 | None | 1000 genomes | 1.99681E-04 | |
19403 | 13 | A/G | 26 | rs573503792 | 0.3891 | None | gnomAD-4.0.0 | 1.05371E-05 | |
19403 | 13 | A/P | 26 | rs545185154 | 0.3891 | None | gnomAD-2.1.1 | 2.02E-05 | |
19403 | 13 | A/P | 26 | rs545185154 | 0.3891 | None | gnomAD-3.1.2 | 3.29E-05 | |
19403 | 13 | A/P | 26 | rs545185154 | 0.3891 | None | 1000 genomes | 1.99681E-04 | |
19403 | 13 | A/P | 26 | rs545185154 | 0.3891 | None | gnomAD-4.0.0 | 8.30571E-05 | |
19403 | 13 | A/V | 26 | None | 0.3891 | None | gnomAD-4.0.0 | 1.36878E-06 | |
19404 | 14 | F/S | 28 | None | 0.1801 | None | gnomAD-4.0.0 | 4.80129E-06 | |
19405 | 15 | A/D | 29 | None | 0.3265 | None | gnomAD-4.0.0 | 2.05319E-06 | |
19405 | 15 | A/T | 29 | None | 0.3265 | None | gnomAD-4.0.0 | 6.36894E-06 | |
19405 | 15 | A/V | 29 | None | 0.3265 | None | gnomAD-4.0.0 | 6.84398E-07 | |
19406 | 16 | L/F | 30 | None | 0.0941 | None | gnomAD-4.0.0 | 1.59225E-06 | |
19407 | 17 | T/I | 31 | None | 0.3396 | None | gnomAD-4.0.0 | 1.59219E-06 | |
19409 | 19 | R/C | 34 | rs553606996 | 0.7381 | None | gnomAD-3.1.2 | 6.58E-06 | |
19409 | 19 | R/C | 34 | rs553606996 | 0.7381 | None | 1000 genomes | 1.99681E-04 | |
19409 | 19 | R/C | 34 | rs553606996 | 0.7381 | None | gnomAD-4.0.0 | 5.57866E-06 | |
19409 | 19 | R/H | 34 | rs201505306 | 0.7381 | None | gnomAD-2.1.1 | 2.71978E-04 | |
19409 | 19 | R/H | 34 | rs201505306 | 0.7381 | None | gnomAD-3.1.2 | 6.90571E-04 | |
19409 | 19 | R/H | 34 | rs201505306 | 0.7381 | None | gnomAD-4.0.0 | 1.32655E-04 | |
19412 | 22 | G/D | 40 | rs998581111 | 0.3413 | None | gnomAD-4.0.0 | 3.42195E-06 | |
19412 | 22 | G/S | 40 | None | 0.3413 | None | gnomAD-4.0.0 | 2.05316E-06 | |
19414 | 24 | P/Q | 42 | rs878901352 | 0.4964 | None | gnomAD-2.1.1 | 1.79E-05 | |
19414 | 24 | P/Q | 42 | rs878901352 | 0.4964 | None | gnomAD-3.1.2 | 3.95E-05 | |
19414 | 24 | P/Q | 42 | rs878901352 | 0.4964 | None | gnomAD-4.0.0 | 8.67809E-06 | |
19414 | 24 | P/S | 42 | None | 0.4964 | None | gnomAD-4.0.0 | 6.84377E-07 | |
19414 | 24 | P/T | 42 | None | 0.4964 | None | gnomAD-4.0.0 | 1.36875E-06 | |
19416 | 26 | P/R | 44 | rs1338893227 | 0.1464 | None | gnomAD-2.1.1 | 3.19E-05 | |
19417 | 27 | K/T | 45 | rs2050890931 | 0.5739 | None | gnomAD-4.0.0 | 1.5921E-06 | |
19418 | 28 | V/A | 46 | rs1236311809 | 0.2303 | None | gnomAD-4.0.0 | 4.77625E-06 | |
19418 | 28 | V/G | 46 | rs1236311809 | 0.2303 | None | gnomAD-2.1.1 | 6.38E-05 | |
19418 | 28 | V/G | 46 | rs1236311809 | 0.2303 | None | gnomAD-3.1.2 | 1.32E-05 | |
19418 | 28 | V/G | 46 | rs1236311809 | 0.2303 | None | gnomAD-4.0.0 | 3.84536E-06 | |
19418 | 28 | V/I | 46 | rs2050889894 | 0.2303 | None | gnomAD-4.0.0 | 6.84362E-07 | |
19418 | 28 | V/L | 46 | None | 0.2303 | None | gnomAD-4.0.0 | 6.84362E-07 | |
19421 | 31 | F/S | 49 | None | 0.2629 | None | gnomAD-4.0.0 | 3.18394E-06 | |
19422 | 32 | K/R | 50 | None | 0.1375 | None | gnomAD-4.0.0 | 1.59194E-06 | |
19425 | 35 | A/D | 55 | None | 0.3662 | None | gnomAD-2.1.1 | 1.61E-05 | |
19425 | 35 | A/D | 55 | None | 0.3662 | None | gnomAD-3.1.2 | 6.58E-06 | |
19425 | 35 | A/D | 55 | None | 0.3662 | None | gnomAD-4.0.0 | 7.43805E-06 | |
19425 | 35 | A/G | 55 | rs727504525 | 0.3662 | None | gnomAD-4.0.0 | 8.21209E-06 | |
19425 | 35 | A/V | 55 | rs727504525 | 0.3662 | None | gnomAD-2.1.1 | 1.21E-05 | |
19425 | 35 | A/V | 55 | rs727504525 | 0.3662 | None | gnomAD-3.1.2 | 1.97E-05 | |
19425 | 35 | A/V | 55 | rs727504525 | 0.3662 | None | gnomAD-4.0.0 | 4.9587E-06 | |
19426 | 36 | D/H | 56 | rs1408473678 | 0.6512 | None | gnomAD-3.1.2 | 6.58E-06 | |
19426 | 36 | D/H | 56 | rs1408473678 | 0.6512 | None | gnomAD-4.0.0 | 6.57549E-06 | |
19427 | 37 | V/M | 58 | None | 0.2178 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19429 | 39 | E/Q | 70 | None | 0.4820 | None | gnomAD-4.0.0 | 1.59204E-06 | |
19430 | 40 | D/N | 73 | None | 0.3229 | None | gnomAD-4.0.0 | 1.59201E-06 | |
19431 | 41 | D/H | 102 | rs1236754057 | 1.0577 | None | gnomAD-2.1.1 | 4.03E-06 | |
19431 | 41 | D/V | 102 | rs772172264 | 1.0577 | None | gnomAD-4.0.0 | 1.59201E-06 | |
19431 | 41 | D/Y | 102 | rs1236754057 | 1.0577 | None | gnomAD-3.1.2 | 6.58E-06 | |
19431 | 41 | D/Y | 102 | rs1236754057 | 1.0577 | None | gnomAD-4.0.0 | 4.95884E-06 | |
19432 | 42 | R/C | 115 | rs1345945391 | 0.1950 | None | gnomAD-2.1.1 | 3.19E-05 | |
19432 | 42 | R/C | 115 | rs1345945391 | 0.1950 | None | gnomAD-3.1.2 | 6.58E-06 | |
19432 | 42 | R/C | 115 | rs1345945391 | 0.1950 | None | gnomAD-4.0.0 | 3.71919E-06 | |
19432 | 42 | R/H | 115 | rs745631866 | 0.1950 | None | gnomAD-2.1.1 | 2.82E-05 | |
19432 | 42 | R/H | 115 | rs745631866 | 0.1950 | None | gnomAD-3.1.2 | 1.97E-05 | |
19432 | 42 | R/H | 115 | rs745631866 | 0.1950 | None | gnomAD-4.0.0 | 1.48771E-05 | |
19433 | 43 | T/A | 121 | None | 0.1222 | None | gnomAD-4.0.0 | 2.05301E-06 | |
19434 | 44 | H/D | 122 | rs770789921 | 0.4586 | None | gnomAD-2.1.1 | 4.03E-06 | |
19434 | 44 | H/D | 122 | rs770789921 | 0.4586 | None | gnomAD-4.0.0 | 4.77572E-06 | |
19435 | 45 | I/L | 123 | None | 0.2347 | None | gnomAD-4.0.0 | 6.84325E-07 | |
19435 | 45 | I/M | 123 | None | 0.2347 | None | gnomAD-4.0.0 | 1.59189E-06 | |
19435 | 45 | I/T | 123 | rs935570365 | 0.2347 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19435 | 45 | I/V | 123 | rs749402480 | 0.2347 | None | gnomAD-2.1.1 | 4.03E-06 | |
19435 | 45 | I/V | 123 | rs749402480 | 0.2347 | None | gnomAD-4.0.0 | 2.7373E-06 | |
19437 | 47 | T/A | 127 | rs778067188 | 0.4099 | None | gnomAD-2.1.1 | 1.07E-05 | |
19437 | 47 | T/A | 127 | rs778067188 | 0.4099 | None | gnomAD-3.1.2 | 1.97E-05 | |
19437 | 47 | T/A | 127 | rs778067188 | 0.4099 | None | gnomAD-4.0.0 | 3.71902E-05 | |
19438 | 48 | T/I | 130 | rs182907667 | 0.3346 | None | gnomAD-3.1.2 | 6.58E-06 | |
19438 | 48 | T/I | 130 | rs182907667 | 0.3346 | None | gnomAD-4.0.0 | 6.57212E-06 | |
19439 | 49 | P/A | 131 | rs368847168 | 0.6325 | None | gnomAD-2.1.1 | 4.03E-06 | |
19439 | 49 | P/A | 131 | rs368847168 | 0.6325 | None | gnomAD-3.1.2 | 6.58E-06 | |
19439 | 49 | P/A | 131 | rs368847168 | 0.6325 | None | gnomAD-4.0.0 | 6.57869E-06 | |
19439 | 49 | P/L | 131 | None | 0.6325 | None | gnomAD-4.0.0 | 4.80129E-06 | |
19439 | 49 | P/S | 131 | rs368847168 | 0.6325 | None | gnomAD-2.1.1 | 1.07E-05 | |
19439 | 49 | P/S | 131 | rs368847168 | 0.6325 | None | gnomAD-3.1.2 | 6.58E-06 | |
19439 | 49 | P/S | 131 | rs368847168 | 0.6325 | None | gnomAD-4.0.0 | 4.33893E-06 | |
19439 | 49 | P/T | 131 | None | 0.6325 | None | gnomAD-2.1.1 | 3.19E-05 | |
19439 | 49 | P/T | 131 | None | 0.6325 | None | gnomAD-3.1.2 | 6.58E-06 | |
19439 | 49 | P/T | 131 | None | 0.6325 | None | gnomAD-4.0.0 | 6.57869E-06 | |
19440 | 50 | A/V | 134 | rs781642072 | 0.2936 | None | gnomAD-2.1.1 | 4.03E-06 | |
19440 | 50 | A/V | 134 | rs781642072 | 0.2936 | None | gnomAD-4.0.0 | 1.59185E-06 | |
19441 | 51 | T/A | 135 | None | 0.3050 | None | gnomAD-4.0.0 | 1.59185E-06 | |
19442 | 52 | L/P | 136 | rs755527935 | 0.1278 | None | gnomAD-2.1.1 | 4.03E-06 | |
19442 | 52 | L/P | 136 | rs755527935 | 0.1278 | None | gnomAD-4.0.0 | 1.59185E-06 | |
19442 | 52 | L/R | 136 | None | 0.1278 | None | gnomAD-4.0.0 | 1.59185E-06 | |
19443 | 53 | A/S | 137 | None | 0.1500 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19443 | 53 | A/T | 137 | None | 0.1500 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19443 | 53 | A/V | 137 | rs1360001030 | 0.1500 | None | gnomAD-2.1.1 | 4.03E-06 | |
19443 | 53 | A/V | 137 | rs1360001030 | 0.1500 | None | gnomAD-4.0.0 | 1.59184E-06 | |
19444 | 54 | L/S | 138 | rs1239800877 | 0.0999 | None | gnomAD-3.1.2 | 6.58E-06 | |
19444 | 54 | L/S | 138 | rs1239800877 | 0.0999 | None | gnomAD-4.0.0 | 6.57618E-06 | |
19445 | 55 | E/K | 139 | rs1418076473 | 0.3457 | None | gnomAD-2.1.1 | 4.03E-06 | |
19445 | 55 | E/K | 139 | rs1418076473 | 0.3457 | None | gnomAD-4.0.0 | 4.79018E-06 | |
19446 | 56 | K/E | 140 | None | 0.1266 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19446 | 56 | K/N | 140 | rs536286313 | 0.1266 | None | gnomAD-2.1.1 | 4.03E-06 | |
19446 | 56 | K/N | 140 | rs536286313 | 0.1266 | None | gnomAD-3.1.2 | 6.58E-06 | |
19446 | 56 | K/N | 140 | rs536286313 | 0.1266 | None | 1000 genomes | 1.99681E-04 | |
19446 | 56 | K/N | 140 | rs536286313 | 0.1266 | None | gnomAD-4.0.0 | 6.57022E-06 | |
19447 | 57 | I/M | 141 | rs1159324065 | 0.4534 | None | gnomAD-2.1.1 | 4.03E-06 | |
19447 | 57 | I/M | 141 | rs1159324065 | 0.4534 | None | gnomAD-4.0.0 | 1.59179E-06 | |
19447 | 57 | I/T | 141 | None | 0.4534 | None | gnomAD-4.0.0 | 1.59178E-06 | |
19448 | 58 | K/E | 143 | rs900082928 | 0.7354 | None | gnomAD-2.1.1 | 4.03E-06 | |
19448 | 58 | K/E | 143 | rs900082928 | 0.7354 | None | gnomAD-3.1.2 | 1.97E-05 | |
19448 | 58 | K/E | 143 | rs900082928 | 0.7354 | None | gnomAD-4.0.0 | 5.57817E-06 | |
19448 | 58 | K/R | 143 | rs2050867556 | 0.7354 | None | gnomAD-3.1.2 | 6.57E-06 | |
19448 | 58 | K/R | 143 | rs2050867556 | 0.7354 | None | gnomAD-4.0.0 | 1.85939E-06 | |
19449 | 59 | A/D | 144 | rs1179903616 | 0.0877 | None | gnomAD-2.1.1 | 4.02E-06 | |
19449 | 59 | A/D | 144 | rs1179903616 | 0.0877 | None | gnomAD-4.0.0 | 1.59179E-06 | |
19449 | 59 | A/P | 144 | None | 0.0877 | None | gnomAD-4.0.0 | 6.84305E-07 | |
19449 | 59 | A/S | 144 | rs753417375 | 0.0877 | None | gnomAD-2.1.1 | 1.07E-05 | |
19449 | 59 | A/S | 144 | rs753417375 | 0.0877 | None | gnomAD-3.1.2 | 6.58E-06 | |
19449 | 59 | A/S | 144 | rs753417375 | 0.0877 | None | gnomAD-4.0.0 | 5.5783E-06 | |
19449 | 59 | A/V | 144 | None | 0.0877 | None | gnomAD-4.0.0 | 1.59179E-06 | |
19451 | 61 | R/C | 146 | rs763871350 | 0.2772 | None | gnomAD-2.1.1 | 4.02E-05 | |
19451 | 61 | R/C | 146 | rs763871350 | 0.2772 | None | gnomAD-3.1.2 | 2.63E-05 | |
19451 | 61 | R/C | 146 | rs763871350 | 0.2772 | None | gnomAD-4.0.0 | 4.27677E-05 | |
19451 | 61 | R/H | 146 | rs760068789 | 0.2772 | None | gnomAD-2.1.1 | 1.21E-05 | |
19451 | 61 | R/H | 146 | rs760068789 | 0.2772 | None | gnomAD-3.1.2 | 6.58E-06 | |
19451 | 61 | R/H | 146 | rs760068789 | 0.2772 | None | gnomAD-4.0.0 | 8.67753E-06 | |
19454 | 64 | S/P | 151 | None | 0.2039 | None | gnomAD-4.0.0 | 1.59175E-06 | |
19455 | 65 | G/A | 152 | rs770572636 | 0.1340 | None | gnomAD-2.1.1 | 4.02E-06 | |
19455 | 65 | G/A | 152 | rs770572636 | 0.1340 | None | gnomAD-4.0.0 | 1.59173E-06 | |
19455 | 65 | G/S | 152 | rs191927501 | 0.1340 | None | gnomAD-2.1.1 | 1.6793E-04 | |
19455 | 65 | G/S | 152 | rs191927501 | 0.1340 | None | gnomAD-3.1.2 | 2.10438E-04 | |
19455 | 65 | G/S | 152 | rs191927501 | 0.1340 | None | 1000 genomes | 1.99681E-04 | |
19455 | 65 | G/S | 152 | rs191927501 | 0.1340 | None | gnomAD-4.0.0 | 2.16916E-04 | |
19456 | 66 | K/R | 153 | None | 0.4543 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19458 | 68 | C/R | 155 | rs867494706 | 0.0993 | None | gnomAD-4.0.0 | 1.59171E-06 | |
19458 | 68 | C/W | 155 | rs777855018 | 0.0993 | None | gnomAD-4.0.0 | 1.59172E-06 | |
19459 | 69 | V/E | 156 | None | 0.1274 | None | gnomAD-4.0.0 | 1.5917E-06 | |
19460 | 70 | V/I | 157 | rs770096744 | 0.1620 | None | gnomAD-2.1.1 | 4.02E-06 | |
19460 | 70 | V/I | 157 | rs770096744 | 0.1620 | None | gnomAD-4.0.0 | 3.18339E-06 | |
19461 | 71 | V/L | 158 | rs368431326 | 0.2018 | None | gnomAD-2.1.1 | 4.02E-06 | |
19461 | 71 | V/L | 158 | rs368431326 | 0.2018 | None | gnomAD-4.0.0 | 1.5917E-06 | |
19461 | 71 | V/M | 158 | rs368431326 | 0.2018 | None | gnomAD-2.1.1 | 4.02E-06 | |
19462 | 72 | E/A | 159 | None | 0.4205 | None | gnomAD-4.0.0 | 6.84284E-07 | |
19462 | 72 | E/Q | 159 | None | 0.4205 | None | gnomAD-4.0.0 | 1.59168E-06 | |
19462 | 72 | E/V | 159 | rs781204863 | 0.4205 | None | gnomAD-2.1.1 | 1.61E-05 | |
19462 | 72 | E/V | 159 | rs781204863 | 0.4205 | None | gnomAD-4.0.0 | 6.15855E-06 | |
19463 | 73 | N/K | 161 | None | 0.1776 | None | gnomAD-4.0.0 | 6.84286E-07 | |
19464 | 74 | S/C | 162 | None | 0.6260 | None | gnomAD-4.0.0 | 6.00161E-06 | |
19464 | 74 | S/R | 162 | None | 0.6260 | None | gnomAD-4.0.0 | 5.47432E-06 | |
19464 | 74 | S/T | 162 | None | 0.6260 | None | gnomAD-4.0.0 | 2.40064E-06 | |
19465 | 75 | T/I | 163 | rs571477228 | 0.6795 | None | gnomAD-2.1.1 | 4.02E-06 | |
19465 | 75 | T/I | 163 | rs571477228 | 0.6795 | None | gnomAD-4.0.0 | 1.59172E-06 | |
19465 | 75 | T/R | 163 | rs571477228 | 0.6795 | None | gnomAD-2.1.1 | 4.02E-06 | |
19465 | 75 | T/R | 163 | rs571477228 | 0.6795 | None | gnomAD-3.1.2 | 1.32E-05 | |
19465 | 75 | T/R | 163 | rs571477228 | 0.6795 | None | 1000 genomes | 1.99681E-04 | |
19465 | 75 | T/R | 163 | rs571477228 | 0.6795 | None | gnomAD-4.0.0 | 3.8439E-06 | |
19466 | 76 | G/A | 164 | rs201922910 | 0.3718 | None | gnomAD-2.1.1 | 1.57206E-04 | |
19466 | 76 | G/A | 164 | rs201922910 | 0.3718 | None | gnomAD-3.1.2 | 1.70976E-04 | |
19466 | 76 | G/A | 164 | rs201922910 | 0.3718 | None | gnomAD-4.0.0 | 2.4358E-04 | |
19466 | 76 | G/D | 164 | None | 0.3718 | None | gnomAD-4.0.0 | 6.8429E-07 | |
19466 | 76 | G/S | 164 | None | 0.3718 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19467 | 77 | S/P | 165 | rs920055688 | 0.4118 | None | gnomAD-4.0.0 | 1.36859E-06 | |
19467 | 77 | S/T | 165 | rs920055688 | 0.4118 | None | gnomAD-3.1.2 | 6.57E-06 | |
19467 | 77 | S/T | 165 | rs920055688 | 0.4118 | None | gnomAD-4.0.0 | 3.7187E-06 | |
19468 | 78 | R/G | 166 | rs2050849448 | 0.6488 | None | gnomAD-4.0.0 | 1.5919E-06 | |
19469 | 79 | K/R | 168 | rs551642842 | 0.6218 | None | gnomAD-2.1.1 | 4.02E-06 | |
19469 | 79 | K/R | 168 | rs551642842 | 0.6218 | None | 1000 genomes | 1.99681E-04 | |
19470 | 80 | G/A | 169 | None | 0.2238 | None | gnomAD-4.0.0 | 1.36872E-06 | |
19470 | 80 | G/D | 169 | rs750836050 | 0.2238 | None | gnomAD-2.1.1 | 4.03E-06 | |
19470 | 80 | G/D | 169 | rs750836050 | 0.2238 | None | gnomAD-4.0.0 | 2.05308E-06 | |
19470 | 80 | G/V | 169 | rs750836050 | 0.2238 | None | gnomAD-2.1.1 | 4.03E-06 | |
19470 | 80 | G/V | 169 | rs750836050 | 0.2238 | None | gnomAD-4.0.0 | 1.36872E-06 | |
19471 | 81 | F/I | 171 | None | 0.4978 | None | gnomAD-4.0.0 | 6.8434E-07 | |
19471 | 81 | F/L | 171 | rs867902753 | 0.4978 | None | gnomAD-3.1.2 | 6.58E-06 | |
19471 | 81 | F/L | 171 | rs867902753 | 0.4978 | None | gnomAD-4.0.0 | 6.57592E-06 | |
19472 | 82 | C/F | 172 | None | 0.0867 | None | gnomAD-4.0.0 | 2.05307E-06 | |
19473 | 83 | Q/H | 173 | rs186563991 | 0.2477 | None | gnomAD-2.1.1 | 3.19E-05 | |
19473 | 83 | Q/H | 173 | rs186563991 | 0.2477 | None | gnomAD-3.1.2 | 6.57E-06 | |
19473 | 83 | Q/H | 173 | rs186563991 | 0.2477 | None | gnomAD-4.0.0 | 6.57479E-06 | |
19474 | 84 | V/I | 174 | rs1307485937 | 0.0857 | None | gnomAD-3.1.2 | 6.57E-06 | |
19474 | 84 | V/I | 174 | rs1307485937 | 0.0857 | None | gnomAD-4.0.0 | 6.57445E-06 | |
19475 | 85 | N/H | 175 | None | 0.3985 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19475 | 85 | N/S | 175 | rs755738851 | 0.3985 | None | gnomAD-2.1.1 | 1.43E-05 | |
19475 | 85 | N/S | 175 | rs755738851 | 0.3985 | None | gnomAD-4.0.0 | 4.10627E-06 | |
19476 | 86 | V/A | 177 | None | 0.0860 | None | gnomAD-4.0.0 | 1.59224E-06 | |
19476 | 86 | V/F | 177 | None | 0.0860 | None | gnomAD-4.0.0 | 6.84388E-07 | |
19476 | 86 | V/I | 177 | rs397517636 | 0.0860 | None | gnomAD-2.1.1 | 2.27783E-03 | |
19476 | 86 | V/I | 177 | rs397517636 | 0.0860 | None | gnomAD-3.1.2 | 6.57497E-04 | |
19476 | 86 | V/I | 177 | rs397517636 | 0.0860 | None | 1000 genomes | 5.99042E-03 | |
19476 | 86 | V/I | 177 | rs397517636 | 0.0860 | None | gnomAD-4.0.0 | 1.12312E-03 |