10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | 100 | 110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
V | I | L | R | T | S | L | E | V | K | R | G | D | E | I | A | L | D | A | S | I | S | G | S | P | Y | P | T | I | T | W | I | K | D | E | N | V | I | V | P | E | E | I | K | K | R | A | A | P | L | V | R | R | R | K | G | E | V | Q | E | E | E | P | F | V | L | P | L | T | Q | R | L | S | I | D | N | S | K | K | G | E | S | Q | L | R | V | R | D | S | L | R | P | D | H | G | L | Y | M | I | K | V | E | N | D | H | G | I | A | K | A | P | C | T | V | S | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
17251 | 1 | V/I | 1 | rs1304051107 | 0.2885 | None | gnomAD-2.1.1 | 4.13E-06 | |
17251 | 1 | V/I | 1 | rs1304051107 | 0.2885 | None | gnomAD-4.0.0 | 2.06186E-06 | |
17253 | 3 | L/P | 3 | None | 0.1882 | None | gnomAD-4.0.0 | 3.20605E-06 | |
17253 | 3 | L/Q | 3 | rs747840389 | 0.1882 | None | gnomAD-2.1.1 | 4.1E-06 | |
17253 | 3 | L/Q | 3 | rs747840389 | 0.1882 | None | gnomAD-4.0.0 | 1.60303E-06 | |
17254 | 4 | R/K | 4 | rs370986897 | 0.7699 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17256 | 6 | S/R | 11 | rs794729454 | 0.5054 | None | gnomAD-4.0.0 | 2.40064E-06 | |
17259 | 9 | V/M | 16 | None | 0.1280 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17261 | 11 | R/Q | 23 | rs201825412 | 0.7123 | None | gnomAD-2.1.1 | 1.15139E-04 | |
17261 | 11 | R/Q | 23 | rs201825412 | 0.7123 | None | gnomAD-3.1.2 | 1.51419E-04 | |
17261 | 11 | R/Q | 23 | rs201825412 | 0.7123 | None | gnomAD-4.0.0 | 3.01478E-04 | |
17262 | 12 | G/S | 24 | rs2154198516 | 0.2729 | None | gnomAD-4.0.0 | 4.78417E-06 | |
17263 | 13 | D/E | 25 | rs768268605 | 0.4489 | None | gnomAD-4.0.0 | 6.84725E-07 | |
17263 | 13 | D/H | 25 | None | 0.4489 | None | gnomAD-4.0.0 | 9.60257E-06 | |
17263 | 13 | D/N | 25 | None | 0.4489 | None | gnomAD-4.0.0 | 2.40064E-06 | |
17264 | 14 | E/K | 26 | rs566710566 | 0.3484 | None | gnomAD-2.1.1 | 4.05E-06 | |
17264 | 14 | E/K | 26 | rs566710566 | 0.3484 | None | gnomAD-3.1.2 | 6.58E-06 | |
17264 | 14 | E/K | 26 | rs566710566 | 0.3484 | None | 1000 genomes | 1.99681E-04 | |
17264 | 14 | E/K | 26 | rs566710566 | 0.3484 | None | gnomAD-4.0.0 | 6.57652E-06 | |
17266 | 16 | A/T | 29 | None | 0.2585 | None | gnomAD-4.0.0 | 1.20033E-06 | |
17267 | 17 | L/F | 30 | rs758364988 | 0.1228 | None | gnomAD-2.1.1 | 1.21E-05 | |
17267 | 17 | L/F | 30 | rs758364988 | 0.1228 | None | gnomAD-4.0.0 | 4.78184E-06 | |
17268 | 18 | D/A | 31 | None | 0.4700 | None | gnomAD-4.0.0 | 4.10815E-06 | |
17269 | 19 | A/P | 33 | rs778693629 | 0.1173 | None | gnomAD-4.0.0 | 3.42358E-06 | |
17269 | 19 | A/S | 33 | rs778693629 | 0.1173 | None | gnomAD-2.1.1 | 1.79E-05 | |
17269 | 19 | A/S | 33 | rs778693629 | 0.1173 | None | gnomAD-3.1.2 | 5.27E-05 | |
17269 | 19 | A/S | 33 | rs778693629 | 0.1173 | None | gnomAD-4.0.0 | 1.05434E-05 | |
17269 | 19 | A/T | 33 | None | 0.1173 | None | gnomAD-3.1.2 | 6.58E-06 | |
17269 | 19 | A/T | 33 | None | 0.1173 | None | gnomAD-4.0.0 | 1.2404E-06 | |
17270 | 20 | S/I | 34 | rs200650668 | 0.4305 | None | gnomAD-2.1.1 | 4.0884E-04 | |
17270 | 20 | S/I | 34 | rs200650668 | 0.4305 | None | gnomAD-3.1.2 | 4.54198E-04 | |
17270 | 20 | S/I | 34 | rs200650668 | 0.4305 | None | gnomAD-4.0.0 | 8.09272E-04 | |
17270 | 20 | S/R | 34 | rs2055789793 | 0.4305 | None | gnomAD-4.0.0 | 1.3694E-06 | |
17271 | 21 | I/T | 35 | rs764070559 | 0.1765 | None | gnomAD-2.1.1 | 8.08E-06 | |
17271 | 21 | I/T | 35 | rs764070559 | 0.1765 | None | gnomAD-3.1.2 | 6.58E-06 | |
17271 | 21 | I/T | 35 | rs764070559 | 0.1765 | None | gnomAD-4.0.0 | 8.06244E-06 | |
17271 | 21 | I/V | 35 | rs754159960 | 0.1765 | None | gnomAD-2.1.1 | 4.04E-06 | |
17271 | 21 | I/V | 35 | rs754159960 | 0.1765 | None | gnomAD-4.0.0 | 1.59387E-06 | |
17272 | 22 | S/A | 38 | rs1308609622 | 0.8953 | None | gnomAD-2.1.1 | 4.04E-06 | |
17272 | 22 | S/A | 38 | rs1308609622 | 0.8953 | None | gnomAD-4.0.0 | 6.16231E-06 | |
17273 | 23 | G/R | 40 | None | 0.4047 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17274 | 24 | S/L | 41 | None | 0.7729 | None | gnomAD-4.0.0 | 1.59398E-06 | |
17274 | 24 | S/T | 41 | None | 0.7729 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17275 | 25 | P/H | 42 | None | 0.5028 | None | gnomAD-4.0.0 | 1.36941E-06 | |
17275 | 25 | P/S | 42 | rs752852690 | 0.5028 | None | gnomAD-2.1.1 | 1.43E-05 | |
17275 | 25 | P/S | 42 | rs752852690 | 0.5028 | None | gnomAD-3.1.2 | 1.32E-05 | |
17275 | 25 | P/S | 42 | rs752852690 | 0.5028 | None | gnomAD-4.0.0 | 1.1784E-05 | |
17275 | 25 | P/T | 42 | None | 0.5028 | None | gnomAD-4.0.0 | 6.84704E-07 | |
17276 | 26 | Y/D | 43 | None | 0.3503 | None | gnomAD-4.0.0 | 6.84695E-07 | |
17276 | 26 | Y/H | 43 | None | 0.3503 | None | gnomAD-4.0.0 | 6.84695E-07 | |
17277 | 27 | P/R | 44 | rs768086093 | 0.1490 | None | gnomAD-2.1.1 | 8.08E-06 | |
17277 | 27 | P/R | 44 | rs768086093 | 0.1490 | None | gnomAD-4.0.0 | 4.78182E-06 | |
17278 | 28 | T/I | 45 | None | 0.7012 | None | gnomAD-4.0.0 | 3.60097E-06 | |
17278 | 28 | T/S | 45 | None | 0.7012 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17279 | 29 | I/T | 46 | None | 0.2765 | None | gnomAD-4.0.0 | 3.18798E-06 | |
17280 | 30 | T/K | 47 | rs1225457381 | 0.4255 | None | gnomAD-2.1.1 | 3.19E-05 | |
17280 | 30 | T/K | 47 | rs1225457381 | 0.4255 | None | gnomAD-3.1.2 | 6.58E-06 | |
17280 | 30 | T/K | 47 | rs1225457381 | 0.4255 | None | gnomAD-4.0.0 | 6.58432E-06 | |
17281 | 31 | W/G | 48 | None | 0.1583 | None | gnomAD-4.0.0 | 6.84709E-07 | |
17281 | 31 | W/R | 48 | rs368846015 | 0.1583 | None | gnomAD-2.1.1 | 8.07E-06 | |
17281 | 31 | W/R | 48 | rs368846015 | 0.1583 | None | gnomAD-3.1.2 | 3.29E-05 | |
17281 | 31 | W/R | 48 | rs368846015 | 0.1583 | None | gnomAD-4.0.0 | 6.82276E-06 | |
17282 | 32 | I/T | 49 | rs1490005480 | 0.1933 | None | gnomAD-2.1.1 | 3.19E-05 | |
17282 | 32 | I/T | 49 | rs1490005480 | 0.1933 | None | gnomAD-3.1.2 | 1.32E-05 | |
17282 | 32 | I/T | 49 | rs1490005480 | 0.1933 | None | gnomAD-4.0.0 | 1.31733E-05 | |
17284 | 34 | D/E | 51 | None | 0.4067 | None | gnomAD-4.0.0 | 1.36947E-06 | |
17284 | 34 | D/N | 51 | None | 0.4067 | None | gnomAD-4.0.0 | 6.84735E-07 | |
17284 | 34 | D/Y | 51 | rs1309961194 | 0.4067 | None | gnomAD-2.1.1 | 4.04E-06 | |
17284 | 34 | D/Y | 51 | rs1309961194 | 0.4067 | None | gnomAD-4.0.0 | 7.53208E-06 | |
17285 | 35 | E/A | 52 | None | 0.7770 | None | gnomAD-4.0.0 | 1.36947E-06 | |
17285 | 35 | E/G | 52 | None | 0.7770 | None | gnomAD-4.0.0 | 6.84734E-07 | |
17285 | 35 | E/K | 52 | rs1355045941 | 0.7770 | None | gnomAD-2.1.1 | 4.04E-06 | |
17285 | 35 | E/K | 52 | rs1355045941 | 0.7770 | None | gnomAD-3.1.2 | 6.58E-06 | |
17285 | 35 | E/K | 52 | rs1355045941 | 0.7770 | None | gnomAD-4.0.0 | 2.56677E-06 | |
17287 | 37 | V/L | 56 | rs1333508634 | 0.5487 | None | gnomAD-2.1.1 | 4.04E-06 | |
17288 | 38 | I/T | 58 | rs1366192608 | 0.1728 | None | gnomAD-2.1.1 | 4.03E-06 | |
17288 | 38 | I/T | 58 | rs1366192608 | 0.1728 | None | gnomAD-4.0.0 | 1.02714E-05 | |
17289 | 39 | V/A | 69 | None | 0.6317 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17290 | 40 | P/L | 70 | None | 0.3388 | None | gnomAD-4.0.0 | 1.36956E-06 | |
17290 | 40 | P/S | 70 | rs1481460924 | 0.3388 | None | gnomAD-4.0.0 | 3.42391E-06 | |
17291 | 41 | E/Q | 73 | None | 0.5585 | None | gnomAD-4.0.0 | 1.59434E-06 | |
17295 | 45 | K/N | 77 | rs72632861 | 1.1053 | None | gnomAD-2.1.1 | 4.04E-06 | |
17295 | 45 | K/N | 77 | rs72632861 | 1.1053 | None | gnomAD-4.0.0 | 8.21766E-06 | |
17295 | 45 | K/R | 77 | None | 1.1053 | None | gnomAD-4.0.0 | 1.36958E-06 | |
17296 | 46 | R/C | 78 | rs1028433729 | 0.6212 | None | gnomAD-2.1.1 | 4.04E-06 | |
17296 | 46 | R/C | 78 | rs1028433729 | 0.6212 | None | gnomAD-4.0.0 | 3.35562E-05 | |
17296 | 46 | R/H | 78 | rs200456782 | 0.6212 | None | gnomAD-2.1.1 | 2.14938E-04 | |
17296 | 46 | R/H | 78 | rs200456782 | 0.6212 | None | gnomAD-3.1.2 | 1.11951E-04 | |
17296 | 46 | R/H | 78 | rs200456782 | 0.6212 | None | gnomAD-4.0.0 | 1.80511E-04 | |
17297 | 47 | A/E | 79 | None | 0.7389 | None | gnomAD-4.0.0 | 6.84822E-07 | |
17297 | 47 | A/G | 79 | rs776392928 | 0.7389 | None | gnomAD-4.0.0 | 6.84822E-07 | |
17297 | 47 | A/T | 79 | None | 0.7389 | None | gnomAD-4.0.0 | 1.36965E-06 | |
17297 | 47 | A/V | 79 | rs776392928 | 0.7389 | None | gnomAD-2.1.1 | 8.07E-06 | |
17297 | 47 | A/V | 79 | rs776392928 | 0.7389 | None | gnomAD-3.1.2 | 6.58E-06 | |
17297 | 47 | A/V | 79 | rs776392928 | 0.7389 | None | gnomAD-4.0.0 | 2.10903E-05 | |
17298 | 48 | A/T | 80 | None | 0.7733 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17299 | 49 | P/L | 81 | rs369648778 | 0.7341 | None | gnomAD-2.1.1 | 7.52E-05 | |
17299 | 49 | P/L | 81 | rs369648778 | 0.7341 | None | gnomAD-3.1.2 | 7.91E-05 | |
17299 | 49 | P/L | 81 | rs369648778 | 0.7341 | None | gnomAD-4.0.0 | 7.87856E-05 | |
17299 | 49 | P/T | 81 | None | 0.7341 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17300 | 50 | L/F | 82 | rs760140429 | 1.1182 | None | gnomAD-2.1.1 | 8.07E-06 | |
17300 | 50 | L/F | 82 | rs760140429 | 1.1182 | None | gnomAD-4.0.0 | 3.18918E-06 | |
17301 | 51 | V/F | 83 | rs775005250 | 0.9293 | None | gnomAD-2.1.1 | 3.19E-05 | |
17301 | 51 | V/G | 83 | rs377029308 | 0.9293 | None | gnomAD-3.1.2 | 6.59E-06 | |
17301 | 51 | V/G | 83 | rs377029308 | 0.9293 | None | gnomAD-4.0.0 | 6.58605E-06 | |
17301 | 51 | V/I | 83 | rs775005250 | 0.9293 | None | gnomAD-2.1.1 | 4.03E-06 | |
17302 | 52 | R/K | 84 | rs1347004429 | 0.9810 | None | gnomAD-3.1.2 | 6.58E-06 | |
17302 | 52 | R/K | 84 | rs1347004429 | 0.9810 | None | gnomAD-4.0.0 | 4.0608E-06 | |
17305 | 55 | K/R | 87 | None | 1.1650 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17306 | 56 | G/D | 88 | rs1559758942 | 0.7406 | None | gnomAD-2.1.1 | 4.03E-06 | |
17306 | 56 | G/D | 88 | rs1559758942 | 0.7406 | None | gnomAD-4.0.0 | 3.18908E-06 | |
17307 | 57 | E/A | 89 | rs745810412 | 0.9292 | None | gnomAD-2.1.1 | 4.03E-06 | |
17307 | 57 | E/A | 89 | rs745810412 | 0.9292 | None | gnomAD-4.0.0 | 1.59449E-06 | |
17307 | 57 | E/K | 89 | None | 0.9292 | None | gnomAD-4.0.0 | 2.40064E-06 | |
17311 | 61 | E/K | 93 | None | 1.0518 | None | gnomAD-4.0.0 | 6.84824E-07 | |
17311 | 61 | E/Q | 93 | None | 1.0518 | None | gnomAD-4.0.0 | 6.84824E-07 | |
17312 | 62 | E/A | 94 | None | 1.0115 | None | gnomAD-4.0.0 | 1.20037E-06 | |
17312 | 62 | E/K | 94 | rs749451611 | 1.0115 | None | gnomAD-2.1.1 | 4.03E-06 | |
17312 | 62 | E/K | 94 | rs749451611 | 1.0115 | None | gnomAD-4.0.0 | 3.42426E-06 | |
17312 | 62 | E/Q | 94 | rs749451611 | 1.0115 | None | gnomAD-2.1.1 | 4.03E-06 | |
17312 | 62 | E/Q | 94 | rs749451611 | 1.0115 | None | gnomAD-4.0.0 | 1.3697E-06 | |
17313 | 63 | P/L | 95 | rs372927085 | 0.7803 | None | gnomAD-4.0.0 | 3.42407E-06 | |
17313 | 63 | P/Q | 95 | None | 0.7803 | None | gnomAD-2.1.1 | 8.06E-06 | |
17313 | 63 | P/Q | 95 | None | 0.7803 | None | gnomAD-4.0.0 | 1.36963E-06 | |
17313 | 63 | P/R | 95 | rs372927085 | 0.7803 | None | gnomAD-2.1.1 | 1.07E-05 | |
17313 | 63 | P/R | 95 | rs372927085 | 0.7803 | None | gnomAD-3.1.2 | 6.58E-06 | |
17313 | 63 | P/R | 95 | rs372927085 | 0.7803 | None | gnomAD-4.0.0 | 4.34205E-06 | |
17314 | 64 | F/I | 96 | None | 0.6673 | None | gnomAD-4.0.0 | 6.84811E-07 | |
17314 | 64 | F/L | 96 | None | 0.6673 | None | gnomAD-4.0.0 | 6.84811E-07 | |
17314 | 64 | F/S | 96 | None | 0.6673 | None | gnomAD-4.0.0 | 1.59451E-06 | |
17315 | 65 | V/A | 97 | rs1338519299 | 0.4845 | None | gnomAD-3.1.2 | 1.32E-05 | |
17315 | 65 | V/A | 97 | rs1338519299 | 0.4845 | None | gnomAD-4.0.0 | 3.04559E-06 | |
17315 | 65 | V/F | 97 | rs778099881 | 0.4845 | None | gnomAD-2.1.1 | 4.03E-06 | |
17315 | 65 | V/F | 97 | rs778099881 | 0.4845 | None | gnomAD-4.0.0 | 1.36963E-06 | |
17315 | 65 | V/I | 97 | rs778099881 | 0.4845 | None | gnomAD-2.1.1 | 1.43E-05 | |
17315 | 65 | V/I | 97 | rs778099881 | 0.4845 | None | gnomAD-3.1.2 | 2.63E-05 | |
17315 | 65 | V/I | 97 | rs778099881 | 0.4845 | None | gnomAD-4.0.0 | 8.68408E-06 | |
17316 | 66 | L/R | 98 | rs368529230 | 0.4335 | None | gnomAD-2.1.1 | 4.03E-06 | |
17316 | 66 | L/R | 98 | rs368529230 | 0.4335 | None | gnomAD-4.0.0 | 1.59456E-06 | |
17317 | 67 | P/S | 99 | None | 0.3940 | None | gnomAD-4.0.0 | 1.59462E-06 | |
17317 | 67 | P/T | 99 | None | 0.3940 | None | gnomAD-4.0.0 | 1.59462E-06 | |
17319 | 69 | T/A | 101 | None | 0.2875 | None | gnomAD-4.0.0 | 3.18938E-06 | |
17320 | 70 | Q/K | 102 | None | 0.3054 | None | gnomAD-4.0.0 | 6.84892E-07 | |
17321 | 71 | R/C | 115 | rs752764827 | 0.1123 | None | gnomAD-2.1.1 | 2.15E-05 | |
17321 | 71 | R/C | 115 | rs752764827 | 0.1123 | None | gnomAD-3.1.2 | 1.98E-05 | |
17321 | 71 | R/C | 115 | rs752764827 | 0.1123 | None | gnomAD-4.0.0 | 3.59848E-05 | |
17321 | 71 | R/H | 115 | rs530304166 | 0.1123 | None | gnomAD-2.1.1 | 1.21E-05 | |
17321 | 71 | R/H | 115 | rs530304166 | 0.1123 | None | gnomAD-3.1.2 | 1.32E-05 | |
17321 | 71 | R/H | 115 | rs530304166 | 0.1123 | None | 1000 genomes | 1.99681E-04 | |
17321 | 71 | R/H | 115 | rs530304166 | 0.1123 | None | gnomAD-4.0.0 | 2.10923E-05 | |
17321 | 71 | R/S | 115 | rs752764827 | 0.1123 | None | gnomAD-2.1.1 | 4.04E-06 | |
17321 | 71 | R/S | 115 | rs752764827 | 0.1123 | None | gnomAD-4.0.0 | 6.84965E-07 | |
17323 | 73 | S/N | 122 | None | 0.3951 | None | gnomAD-4.0.0 | 2.40064E-06 | |
17324 | 74 | I/T | 123 | rs755536501 | 0.2771 | None | gnomAD-2.1.1 | 4.05E-06 | |
17324 | 74 | I/T | 123 | rs755536501 | 0.2771 | None | gnomAD-3.1.2 | 6.58E-06 | |
17324 | 74 | I/T | 123 | rs755536501 | 0.2771 | None | gnomAD-4.0.0 | 6.20585E-06 | |
17325 | 75 | D/N | 125 | rs375717318 | 0.4939 | None | gnomAD-2.1.1 | 4.06E-06 | |
17325 | 75 | D/N | 125 | rs375717318 | 0.4939 | None | gnomAD-4.0.0 | 2.05752E-06 | |
17326 | 76 | N/K | 127 | rs1179567067 | 0.4996 | None | gnomAD-4.0.0 | 6.86553E-07 | |
17327 | 77 | S/C | 129 | None | 0.6956 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17327 | 77 | S/I | 129 | rs1447002596 | 0.6956 | None | gnomAD-2.1.1 | 4.09E-06 | |
17327 | 77 | S/I | 129 | rs1447002596 | 0.6956 | None | gnomAD-4.0.0 | 1.37366E-06 | |
17327 | 77 | S/N | 129 | rs1447002596 | 0.6956 | None | gnomAD-3.1.2 | 6.58E-06 | |
17327 | 77 | S/N | 129 | rs1447002596 | 0.6956 | None | gnomAD-4.0.0 | 1.24391E-06 | |
17327 | 77 | S/R | 129 | rs1244227970 | 0.6956 | None | gnomAD-4.0.0 | 1.60947E-06 | |
17328 | 78 | K/Q | 130 | rs371827403 | 0.5331 | None | gnomAD-2.1.1 | 4.06E-06 | |
17328 | 78 | K/Q | 130 | rs371827403 | 0.5331 | None | gnomAD-3.1.2 | 6.58E-06 | |
17328 | 78 | K/Q | 130 | rs371827403 | 0.5331 | None | gnomAD-4.0.0 | 2.57267E-06 | |
17328 | 78 | K/R | 130 | rs1268313785 | 0.5331 | None | gnomAD-3.1.2 | 6.58E-06 | |
17328 | 78 | K/R | 130 | rs1268313785 | 0.5331 | None | gnomAD-4.0.0 | 2.03033E-06 | |
17329 | 79 | K/N | 131 | rs1463878310 | 0.6484 | None | gnomAD-2.1.1 | 4.07E-06 | |
17329 | 79 | K/N | 131 | rs1463878310 | 0.6484 | None | gnomAD-4.0.0 | 6.85839E-07 | |
17330 | 80 | G/V | 134 | None | 0.2086 | None | gnomAD-4.0.0 | 1.37218E-06 | |
17331 | 81 | E/G | 135 | None | 0.4158 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17331 | 81 | E/Q | 135 | rs547986881 | 0.4158 | None | gnomAD-2.1.1 | 6.04345E-04 | |
17331 | 81 | E/Q | 135 | rs547986881 | 0.4158 | None | gnomAD-3.1.2 | 1.44786E-04 | |
17331 | 81 | E/Q | 135 | rs547986881 | 0.4158 | None | 1000 genomes | 9.98403E-04 | |
17331 | 81 | E/Q | 135 | rs547986881 | 0.4158 | None | gnomAD-4.0.0 | 2.90303E-04 | |
17332 | 82 | S/T | 136 | None | 0.1330 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17333 | 83 | Q/H | 137 | None | 0.3796 | None | gnomAD-4.0.0 | 1.60681E-06 | |
17333 | 83 | Q/P | 137 | None | 0.3796 | None | gnomAD-4.0.0 | 5.49847E-06 | |
17335 | 85 | R/C | 139 | rs763755830 | 0.1628 | None | gnomAD-2.1.1 | 1.46E-05 | |
17335 | 85 | R/C | 139 | rs763755830 | 0.1628 | None | gnomAD-3.1.2 | 1.97E-05 | |
17335 | 85 | R/C | 139 | rs763755830 | 0.1628 | None | gnomAD-4.0.0 | 1.30764E-05 | |
17335 | 85 | R/G | 139 | None | 0.1628 | None | gnomAD-4.0.0 | 6.87758E-07 | |
17335 | 85 | R/H | 139 | rs367603302 | 0.1628 | None | gnomAD-2.1.1 | 1.31519E-04 | |
17335 | 85 | R/H | 139 | rs367603302 | 0.1628 | None | gnomAD-3.1.2 | 1.71143E-04 | |
17335 | 85 | R/H | 139 | rs367603302 | 0.1628 | None | gnomAD-4.0.0 | 8.65936E-05 | |
17335 | 85 | R/L | 139 | rs367603302 | 0.1628 | None | gnomAD-3.1.2 | 6.58E-06 | |
17335 | 85 | R/L | 139 | rs367603302 | 0.1628 | None | gnomAD-4.0.0 | 6.58241E-06 | |
17336 | 86 | V/A | 140 | rs1315720730 | 0.1026 | None | gnomAD-2.1.1 | 4.16E-06 | |
17336 | 86 | V/A | 140 | rs1315720730 | 0.1026 | None | gnomAD-4.0.0 | 1.6174E-06 | |
17336 | 86 | V/I | 140 | rs567781604 | 0.1026 | None | gnomAD-2.1.1 | 4.78E-05 | |
17336 | 86 | V/I | 140 | rs567781604 | 0.1026 | None | gnomAD-3.1.2 | 3.95E-05 | |
17336 | 86 | V/I | 140 | rs567781604 | 0.1026 | None | gnomAD-4.0.0 | 5.0526E-05 | |
17337 | 87 | R/L | 141 | rs775700218 | 0.7108 | None | gnomAD-2.1.1 | 4.19E-06 | |
17337 | 87 | R/L | 141 | rs775700218 | 0.7108 | None | gnomAD-4.0.0 | 2.07002E-06 | |
17337 | 87 | R/Q | 141 | rs775700218 | 0.7108 | None | gnomAD-2.1.1 | 1.85E-05 | |
17337 | 87 | R/Q | 141 | rs775700218 | 0.7108 | None | gnomAD-3.1.2 | 2.63E-05 | |
17337 | 87 | R/Q | 141 | rs775700218 | 0.7108 | None | gnomAD-4.0.0 | 2.62284E-05 | |
17338 | 88 | D/H | 143 | None | 0.6931 | None | gnomAD-4.0.0 | 1.62489E-06 | |
17339 | 89 | S/T | 144 | rs765426395 | 0.0894 | None | gnomAD-4.0.0 | 2.40064E-06 | |
17339 | 89 | S/Y | 144 | None | 0.0894 | None | gnomAD-4.0.0 | 1.62947E-06 | |
17340 | 90 | L/F | 145 | rs770603604 | 0.2508 | None | gnomAD-2.1.1 | 1.01923E-04 | |
17340 | 90 | L/F | 145 | rs770603604 | 0.2508 | None | gnomAD-3.1.2 | 1.97E-05 | |
17340 | 90 | L/F | 145 | rs770603604 | 0.2508 | None | gnomAD-4.0.0 | 3.26908E-05 | |
17341 | 91 | R/L | 146 | rs370390570 | 0.4580 | None | gnomAD-2.1.1 | 8.63E-06 | |
17341 | 91 | R/L | 146 | rs370390570 | 0.4580 | None | gnomAD-4.0.0 | 2.77426E-06 | |
17341 | 91 | R/Q | 146 | rs370390570 | 0.4580 | None | gnomAD-2.1.1 | 1.25401E-04 | |
17341 | 91 | R/Q | 146 | rs370390570 | 0.4580 | None | gnomAD-3.1.2 | 3.75163E-04 | |
17341 | 91 | R/Q | 146 | rs370390570 | 0.4580 | None | 1000 genomes | 3.99361E-04 | |
17341 | 91 | R/Q | 146 | rs370390570 | 0.4580 | None | gnomAD-4.0.0 | 8.09345E-05 | |
17342 | 92 | P/L | 148 | None | 0.5723 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17343 | 93 | D/V | 149 | rs201796622 | 0.1392 | None | gnomAD-2.1.1 | 4.44E-06 | |
17343 | 93 | D/V | 149 | rs201796622 | 0.1392 | None | gnomAD-3.1.2 | 6.58E-06 | |
17343 | 93 | D/V | 149 | rs201796622 | 0.1392 | None | gnomAD-4.0.0 | 2.52137E-06 | |
17343 | 93 | D/Y | 149 | rs2055729807 | 0.1392 | None | gnomAD-4.0.0 | 1.662E-06 | |
17344 | 94 | H/Q | 151 | None | 0.4556 | None | gnomAD-4.0.0 | 6.98497E-07 | |
17344 | 94 | H/R | 151 | rs748445315 | 0.4556 | None | gnomAD-2.1.1 | 1.79E-05 | |
17344 | 94 | H/R | 151 | rs748445315 | 0.4556 | None | gnomAD-3.1.2 | 1.97E-05 | |
17344 | 94 | H/R | 151 | rs748445315 | 0.4556 | None | gnomAD-4.0.0 | 2.20971E-05 | |
17344 | 94 | H/Y | 151 | rs770072826 | 0.4556 | None | gnomAD-2.1.1 | 1.34E-05 | |
17344 | 94 | H/Y | 151 | rs770072826 | 0.4556 | None | gnomAD-4.0.0 | 6.65885E-06 | |
17345 | 95 | G/V | 152 | None | 0.1603 | None | gnomAD-4.0.0 | 6.99481E-07 | |
17346 | 96 | L/M | 153 | None | 0.4268 | None | gnomAD-4.0.0 | 1.67988E-06 | |
17346 | 96 | L/P | 153 | rs755155531 | 0.4268 | None | gnomAD-2.1.1 | 8.05E-06 | |
17346 | 96 | L/P | 153 | rs755155531 | 0.4268 | None | gnomAD-3.1.2 | 1.97E-05 | |
17346 | 96 | L/P | 153 | rs755155531 | 0.4268 | None | gnomAD-4.0.0 | 6.72363E-06 | |
17346 | 96 | L/V | 153 | None | 0.4268 | None | gnomAD-4.0.0 | 1.67988E-06 | |
17347 | 97 | Y/H | 154 | rs1488285179 | 0.1334 | None | gnomAD-2.1.1 | 4.63E-06 | |
17347 | 97 | Y/H | 154 | rs1488285179 | 0.1334 | None | gnomAD-4.0.0 | 1.69485E-06 | |
17348 | 98 | M/I | 155 | rs758852311 | 0.2327 | None | gnomAD-2.1.1 | 4.92E-06 | |
17348 | 98 | M/I | 155 | rs758852311 | 0.2327 | None | gnomAD-3.1.2 | 1.32E-05 | |
17348 | 98 | M/I | 155 | rs758852311 | 0.2327 | None | gnomAD-4.0.0 | 7.05167E-06 | |
17348 | 98 | M/T | 155 | rs992739626 | 0.2327 | None | gnomAD-2.1.1 | 4.88E-06 | |
17348 | 98 | M/T | 155 | rs992739626 | 0.2327 | None | gnomAD-4.0.0 | 4.25587E-06 | |
17348 | 98 | M/V | 155 | rs780570190 | 0.2327 | None | gnomAD-2.1.1 | 1.89E-05 | |
17348 | 98 | M/V | 155 | rs780570190 | 0.2327 | None | gnomAD-3.1.2 | 6.58E-06 | |
17348 | 98 | M/V | 155 | rs780570190 | 0.2327 | None | gnomAD-4.0.0 | 1.78335E-05 | |
17349 | 99 | I/M | 156 | rs1273982598 | 0.0787 | None | gnomAD-2.1.1 | 5.07E-06 | |
17349 | 99 | I/M | 156 | rs1273982598 | 0.0787 | None | gnomAD-4.0.0 | 1.76556E-06 | |
17350 | 100 | K/R | 157 | rs545725664 | 0.2968 | None | gnomAD-2.1.1 | 5.25E-05 | |
17350 | 100 | K/R | 157 | rs545725664 | 0.2968 | None | gnomAD-4.0.0 | 1.2239E-05 | |
17350 | 100 | K/T | 157 | None | 0.2968 | None | gnomAD-4.0.0 | 7.19939E-07 | |
17351 | 101 | V/A | 158 | rs565423253 | 0.1411 | None | gnomAD-2.1.1 | 6.79E-05 | |
17351 | 101 | V/A | 158 | rs565423253 | 0.1411 | None | gnomAD-3.1.2 | 3.29E-05 | |
17351 | 101 | V/A | 158 | rs565423253 | 0.1411 | None | 1000 genomes | 1.99681E-04 | |
17351 | 101 | V/A | 158 | rs565423253 | 0.1411 | None | gnomAD-4.0.0 | 1.29841E-05 | |
17351 | 101 | V/G | 158 | rs565423253 | 0.1411 | None | gnomAD-4.0.0 | 5.0422E-06 | |
17351 | 101 | V/I | 158 | rs765525785 | 0.1411 | None | gnomAD-2.1.1 | 5.27E-06 | |
17351 | 101 | V/I | 158 | rs765525785 | 0.1411 | None | gnomAD-4.0.0 | 1.80083E-06 | |
17352 | 102 | E/A | 159 | rs1187111699 | 0.3878 | None | gnomAD-4.0.0 | 4.80129E-06 | |
17352 | 102 | E/K | 159 | None | 0.3878 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17354 | 104 | D/E | 162 | rs886055269 | 0.9103 | None | gnomAD-4.0.0 | 3.64904E-06 | |
17354 | 104 | D/V | 162 | rs397517606 | 0.9103 | None | gnomAD-2.1.1 | 5.44E-06 | |
17354 | 104 | D/Y | 162 | None | 0.9103 | None | gnomAD-4.0.0 | 1.82058E-06 | |
17355 | 105 | H/D | 163 | rs2055715611 | 0.9013 | None | gnomAD-4.0.0 | 7.24267E-07 | |
17355 | 105 | H/N | 163 | None | 0.9013 | None | gnomAD-4.0.0 | 1.44854E-06 | |
17356 | 106 | G/D | 164 | rs759091835 | 0.3473 | None | gnomAD-2.1.1 | 1.11E-05 | |
17356 | 106 | G/D | 164 | rs759091835 | 0.3473 | None | gnomAD-4.0.0 | 7.97961E-06 | |
17356 | 106 | G/S | 164 | rs1300982560 | 0.3473 | None | gnomAD-4.0.0 | 5.07799E-06 | |
17357 | 107 | I/M | 165 | None | 0.4939 | None | gnomAD-4.0.0 | 2.91106E-06 | |
17357 | 107 | I/V | 165 | rs773768518 | 0.4939 | None | gnomAD-2.1.1 | 5.6E-06 | |
17357 | 107 | I/V | 165 | rs773768518 | 0.4939 | None | gnomAD-3.1.2 | 6.58E-06 | |
17357 | 107 | I/V | 165 | rs773768518 | 0.4939 | None | gnomAD-4.0.0 | 3.92652E-06 | |
17358 | 108 | A/V | 166 | None | 0.3139 | None | gnomAD-4.0.0 | 7.2825E-07 | |
17361 | 111 | P/S | 171 | None | 0.4623 | None | gnomAD-4.0.0 | 1.86637E-06 | |
17362 | 112 | C/G | 172 | None | 0.0743 | None | gnomAD-4.0.0 | 7.30789E-07 | |
17362 | 112 | C/Y | 172 | rs1553690569 | 0.0743 | None | gnomAD-4.0.0 | 2.1939E-06 | |
17363 | 113 | T/I | 173 | None | 0.4465 | None | gnomAD-4.0.0 | 7.3252E-07 | |
17366 | 116 | V/A | 177 | None | 0.1179 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17366 | 116 | V/M | 177 | None | 0.1179 | None | gnomAD-4.0.0 | 1.47234E-06 |