10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
R | P | G | P | P | E | G | P | L | K | V | T | G | V | T | A | E | K | C | Y | L | A | W | N | P | P | L | Q | D | G | G | A | N | I | S | H | Y | I | I | E | K | R | E | T | S | R | L | S | W | T | Q | V | S | T | E | V | Q | A | L | N | Y | K | V | T | K | L | L | P | G | N | E | Y | I | F | R | V | M | A | V | N | K | Y | G | I | G | E | P | L | E | S | G | P | V | T | A | C | N | P | Y | K | P | P | G | P | P | S | T | P | E | V | S | A | I | T | K | D | S | M | V | V | T | W | A | R | P | V | D | D | G | G | T | E | I | E | G | Y | I | L | E | K | R | D | K | E | G | V | R | W | T | K | C | N | K | K | T | L | T | D | L | R | L | R | V | T | G | L | T | E | G | H | S | Y | E | F | R | V | A | A | E | N | A | A | G | V | G | E | P | S | E | P | S | V | F | Y | R | A | C | D | A |
- | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | P | P | G | P | P | S | T | P | E | V | S | A | I | T | K | D | S | M | V | V | T | W | A | R | P | V | D | D | G | G | T | E | I | E | G | Y | I | L | E | K | R | D | K | E | G | V | R | W | T | K | C | N | K | K | T | L | T | D | L | R | L | R | V | T | G | L | T | E | G | H | S | Y | E | F | R | V | A | A | E | N | A | A | G | V | G | E | P | S | E | P | S | V | F | Y | R | A | C | D | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
27469 | 1 | P/A | 1 | rs769678793 | 0.3560 | None | gnomAD-2.1.1 | 6.43E-05 | |
27469 | 1 | P/A | 1 | rs769678793 | 0.3560 | None | gnomAD-3.1.2 | 1.97E-05 | |
27469 | 1 | P/A | 1 | rs769678793 | 0.3560 | None | gnomAD-4.0.0 | 9.91514E-06 | |
27469 | 1 | P/R | 1 | None | 0.3560 | None | gnomAD-4.0.0 | 1.59127E-06 | |
27470 | 2 | P/T | 2 | rs886055239 | 0.1878 | None | gnomAD-2.1.1 | 8.04E-06 | |
27470 | 2 | P/T | 2 | rs886055239 | 0.1878 | None | gnomAD-3.1.2 | 6.58E-06 | |
27470 | 2 | P/T | 2 | rs886055239 | 0.1878 | None | gnomAD-4.0.0 | 4.33812E-06 | |
27471 | 3 | G/C | 3 | None | 0.2659 | None | gnomAD-4.0.0 | 1.36841E-06 | |
27471 | 3 | G/S | 3 | rs757130634 | 0.2659 | None | gnomAD-4.0.0 | 8.21048E-06 | |
27472 | 4 | P/L | 4 | rs747864468 | 0.4456 | None | gnomAD-2.1.1 | 7.14E-06 | |
27472 | 4 | P/L | 4 | rs747864468 | 0.4456 | None | gnomAD-3.1.2 | 1.31E-05 | |
27472 | 4 | P/L | 4 | rs747864468 | 0.4456 | None | gnomAD-4.0.0 | 3.09857E-06 | |
27472 | 4 | P/R | 4 | None | 0.4456 | None | gnomAD-4.0.0 | 6.84205E-07 | |
27474 | 6 | S/L | 6 | rs781507920 | 0.2611 | None | gnomAD-2.1.1 | 4.02E-06 | |
27475 | 7 | T/I | 7 | None | 0.3760 | None | gnomAD-4.0.0 | 6.84201E-07 | |
27475 | 7 | T/K | 7 | rs377169807 | 0.3760 | None | gnomAD-2.1.1 | 1.61E-05 | |
27475 | 7 | T/K | 7 | rs377169807 | 0.3760 | None | gnomAD-3.1.2 | 2.63E-05 | |
27475 | 7 | T/K | 7 | rs377169807 | 0.3760 | None | gnomAD-4.0.0 | 4.95767E-05 | |
27476 | 8 | P/R | 9 | rs2154161598 | 0.1508 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27476 | 8 | P/S | 9 | None | 0.1508 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27477 | 9 | E/D | 11 | None | 0.7445 | None | gnomAD-4.0.0 | 1.59118E-06 | |
27477 | 9 | E/G | 11 | rs1184828155 | 0.7445 | None | gnomAD-2.1.1 | 4.02E-06 | |
27477 | 9 | E/G | 11 | rs1184828155 | 0.7445 | None | gnomAD-4.0.0 | 1.59122E-06 | |
27479 | 11 | S/P | 13 | rs1704559289 | 0.4164 | None | gnomAD-4.0.0 | 1.59123E-06 | |
27480 | 12 | A/P | 14 | rs1457913909 | 0.4524 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27481 | 13 | I/F | 15 | rs780039092 | 0.3951 | None | gnomAD-2.1.1 | 4.02E-06 | |
27481 | 13 | I/F | 15 | rs780039092 | 0.3951 | None | gnomAD-3.1.2 | 3.29E-05 | |
27481 | 13 | I/F | 15 | rs780039092 | 0.3951 | None | gnomAD-4.0.0 | 3.28692E-05 | |
27481 | 13 | I/V | 15 | rs780039092 | 0.3951 | None | gnomAD-2.1.1 | 4.02E-06 | |
27481 | 13 | I/V | 15 | rs780039092 | 0.3951 | None | gnomAD-4.0.0 | 1.59122E-06 | |
27482 | 14 | T/I | 16 | None | 0.3661 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27483 | 15 | K/Q | 17 | rs188940525 | 0.5933 | None | gnomAD-3.1.2 | 6.57E-06 | |
27483 | 15 | K/Q | 17 | rs188940525 | 0.5933 | None | 1000 genomes | 1.99681E-04 | |
27483 | 15 | K/Q | 17 | rs188940525 | 0.5933 | None | gnomAD-4.0.0 | 4.95733E-06 | |
27483 | 15 | K/R | 17 | rs937111656 | 0.5933 | None | gnomAD-3.1.2 | 6.58E-06 | |
27483 | 15 | K/R | 17 | rs937111656 | 0.5933 | None | gnomAD-4.0.0 | 4.33812E-06 | |
27483 | 15 | K/T | 17 | None | 0.5933 | None | gnomAD-4.0.0 | 2.05263E-06 | |
27484 | 16 | D/N | 18 | rs1444267232 | 0.4648 | None | gnomAD-2.1.1 | 4.02E-06 | |
27484 | 16 | D/N | 18 | rs1444267232 | 0.4648 | None | gnomAD-4.0.0 | 1.59124E-06 | |
27485 | 17 | S/Y | 19 | None | 0.1409 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27486 | 18 | M/L | 20 | None | 0.1314 | None | gnomAD-4.0.0 | 1.59122E-06 | |
27486 | 18 | M/T | 20 | rs746435098 | 0.1314 | None | gnomAD-2.1.1 | 1.21E-05 | |
27486 | 18 | M/T | 20 | rs746435098 | 0.1314 | None | gnomAD-3.1.2 | 6.58E-06 | |
27486 | 18 | M/T | 20 | rs746435098 | 0.1314 | None | gnomAD-4.0.0 | 2.3549E-05 | |
27487 | 19 | V/A | 21 | rs779268775 | 0.2528 | None | gnomAD-2.1.1 | 4.02E-06 | |
27488 | 20 | V/I | 22 | rs1704546804 | 0.0934 | None | gnomAD-4.0.0 | 2.18942E-05 | |
27488 | 20 | V/L | 22 | None | 0.0934 | None | gnomAD-4.0.0 | 6.84195E-07 | |
27489 | 21 | T/I | 23 | None | 0.3326 | None | gnomAD-4.0.0 | 1.59119E-06 | |
27490 | 22 | W/R | 24 | rs757683923 | 0.1329 | None | gnomAD-2.1.1 | 8.04E-06 | |
27490 | 22 | W/R | 24 | rs757683923 | 0.1329 | None | gnomAD-3.1.2 | 6.58E-06 | |
27490 | 22 | W/R | 24 | rs757683923 | 0.1329 | None | gnomAD-4.0.0 | 2.73679E-06 | |
27490 | 22 | W/S | 24 | None | 0.1329 | None | gnomAD-4.0.0 | 1.59121E-06 | |
27491 | 23 | A/S | 25 | rs370087858 | 0.3719 | None | gnomAD-2.1.1 | 1.21E-05 | |
27491 | 23 | A/S | 25 | rs370087858 | 0.3719 | None | gnomAD-4.0.0 | 2.87363E-05 | |
27491 | 23 | A/V | 25 | None | 0.3719 | None | gnomAD-4.0.0 | 4.77354E-06 | |
27492 | 24 | R/C | 26 | rs767221784 | 0.5127 | None | gnomAD-2.1.1 | 2.85E-05 | |
27492 | 24 | R/C | 26 | rs767221784 | 0.5127 | None | gnomAD-3.1.2 | 3.29E-05 | |
27492 | 24 | R/C | 26 | rs767221784 | 0.5127 | None | gnomAD-4.0.0 | 1.73528E-05 | |
27492 | 24 | R/G | 26 | None | 0.5127 | None | gnomAD-4.0.0 | 6.84197E-07 | |
27492 | 24 | R/H | 26 | rs375752919 | 0.5127 | None | gnomAD-2.1.1 | 1.21E-05 | |
27492 | 24 | R/H | 26 | rs375752919 | 0.5127 | None | gnomAD-4.0.0 | 6.15777E-06 | |
27494 | 26 | V/A | 28 | rs563168332 | 1.1364 | None | gnomAD-2.1.1 | 4.02E-06 | |
27494 | 26 | V/A | 28 | rs563168332 | 1.1364 | None | gnomAD-3.1.2 | 6.58E-06 | |
27494 | 26 | V/A | 28 | rs563168332 | 1.1364 | None | 1000 genomes | 1.99681E-04 | |
27494 | 26 | V/A | 28 | rs563168332 | 1.1364 | None | gnomAD-4.0.0 | 6.57022E-06 | |
27496 | 28 | D/A | 30 | None | 0.4264 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27496 | 28 | D/E | 30 | None | 0.4264 | None | gnomAD-4.0.0 | 6.84199E-07 | |
27496 | 28 | D/G | 30 | rs1466312104 | 0.4264 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27496 | 28 | D/N | 30 | rs554231442 | 0.4264 | None | gnomAD-2.1.1 | 4.78138E-04 | |
27496 | 28 | D/N | 30 | rs554231442 | 0.4264 | None | gnomAD-3.1.2 | 2.49872E-04 | |
27496 | 28 | D/N | 30 | rs554231442 | 0.4264 | None | 1000 genomes | 9.98403E-04 | |
27496 | 28 | D/N | 30 | rs554231442 | 0.4264 | None | gnomAD-4.0.0 | 2.85049E-04 | |
27497 | 29 | G/E | 31 | None | 0.1020 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27497 | 29 | G/R | 31 | rs201158906 | 0.1020 | None | gnomAD-2.1.1 | 1.6164E-03 | |
27497 | 29 | G/R | 31 | rs201158906 | 0.1020 | None | gnomAD-3.1.2 | 1.32834E-03 | |
27497 | 29 | G/R | 31 | rs201158906 | 0.1020 | None | 1000 genomes | 1.99681E-04 | |
27497 | 29 | G/R | 31 | rs201158906 | 0.1020 | None | gnomAD-4.0.0 | 1.2976E-03 | |
27498 | 30 | G/D | 32 | rs1417591772 | 0.3415 | None | gnomAD-3.1.2 | 6.58E-06 | |
27498 | 30 | G/D | 32 | rs1417591772 | 0.3415 | None | gnomAD-4.0.0 | 8.67625E-06 | |
27498 | 30 | G/S | 32 | rs1458136255 | 0.3415 | None | gnomAD-2.1.1 | 1.61E-05 | |
27498 | 30 | G/S | 32 | rs1458136255 | 0.3415 | None | gnomAD-3.1.2 | 1.97E-05 | |
27498 | 30 | G/S | 32 | rs1458136255 | 0.3415 | None | gnomAD-4.0.0 | 6.81696E-06 | |
27499 | 31 | T/S | 33 | rs1366798233 | 0.2601 | None | gnomAD-3.1.2 | 6.57E-06 | |
27499 | 31 | T/S | 33 | rs1366798233 | 0.2601 | None | gnomAD-4.0.0 | 1.23941E-05 | |
27500 | 32 | E/A | 34 | None | 0.9579 | None | gnomAD-4.0.0 | 1.59122E-06 | |
27500 | 32 | E/K | 34 | rs375422359 | 0.9579 | None | gnomAD-2.1.1 | 2.41E-05 | |
27500 | 32 | E/K | 34 | rs375422359 | 0.9579 | None | gnomAD-3.1.2 | 3.29E-05 | |
27500 | 32 | E/K | 34 | rs375422359 | 0.9579 | None | gnomAD-4.0.0 | 1.1155E-05 | |
27501 | 33 | I/M | 35 | rs768922879 | 0.2418 | None | gnomAD-2.1.1 | 4.02E-06 | |
27501 | 33 | I/M | 35 | rs768922879 | 0.2418 | None | gnomAD-3.1.2 | 6.58E-06 | |
27501 | 33 | I/M | 35 | rs768922879 | 0.2418 | None | gnomAD-4.0.0 | 6.5786E-06 | |
27501 | 33 | I/T | 35 | None | 0.2418 | None | gnomAD-4.0.0 | 1.59124E-06 | |
27502 | 34 | E/A | 36 | None | 0.5690 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27503 | 35 | G/A | 37 | rs1192596225 | 0.1350 | None | gnomAD-2.1.1 | 4.02E-06 | |
27503 | 35 | G/A | 37 | rs1192596225 | 0.1350 | None | gnomAD-4.0.0 | 1.23156E-05 | |
27503 | 35 | G/C | 37 | None | 0.1350 | None | gnomAD-4.0.0 | 1.59122E-06 | |
27503 | 35 | G/D | 37 | None | 0.1350 | None | gnomAD-4.0.0 | 6.15779E-06 | |
27505 | 37 | I/V | 39 | rs1270467286 | 0.3149 | None | gnomAD-4.0.0 | 3.60098E-06 | |
27507 | 39 | E/D | 41 | None | 0.1479 | None | gnomAD-4.0.0 | 1.36841E-06 | |
27508 | 40 | K/N | 42 | rs766900644 | 0.2289 | None | gnomAD-2.1.1 | 4.02E-06 | |
27508 | 40 | K/N | 42 | rs766900644 | 0.2289 | None | gnomAD-3.1.2 | 6.58E-06 | |
27508 | 40 | K/N | 42 | rs766900644 | 0.2289 | None | gnomAD-4.0.0 | 2.4789E-06 | |
27509 | 41 | R/P | 43 | rs1246168127 | 0.2619 | None | gnomAD-3.1.2 | 6.58E-06 | |
27509 | 41 | R/P | 43 | rs1246168127 | 0.2619 | None | gnomAD-4.0.0 | 6.57601E-06 | |
27509 | 41 | R/Q | 43 | rs1246168127 | 0.2619 | None | gnomAD-2.1.1 | 3.62E-05 | |
27509 | 41 | R/Q | 43 | rs1246168127 | 0.2619 | None | gnomAD-4.0.0 | 6.15789E-06 | |
27510 | 42 | D/G | 44 | rs747295333 | 0.1959 | None | gnomAD-2.1.1 | 4.02E-06 | |
27510 | 42 | D/G | 44 | rs747295333 | 0.1959 | None | gnomAD-4.0.0 | 1.59125E-06 | |
27510 | 42 | D/N | 44 | None | 0.1959 | None | gnomAD-4.0.0 | 1.59126E-06 | |
27512 | 44 | E/A | 54 | None | 0.7267 | None | gnomAD-4.0.0 | 1.59126E-06 | |
27512 | 44 | E/K | 54 | None | 0.7267 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27513 | 45 | G/R | 60 | rs957555800 | 0.2909 | None | gnomAD-2.1.1 | 4.02E-06 | |
27513 | 45 | G/R | 60 | rs957555800 | 0.2909 | None | gnomAD-4.0.0 | 1.36843E-06 | |
27513 | 45 | G/S | 60 | None | 0.2909 | None | gnomAD-4.0.0 | 6.84215E-07 | |
27513 | 45 | G/V | 60 | rs1704505707 | 0.2909 | None | gnomAD-3.1.2 | 6.57E-06 | |
27513 | 45 | G/V | 60 | rs1704505707 | 0.2909 | None | gnomAD-4.0.0 | 6.57402E-06 | |
27514 | 46 | V/F | 63 | rs745920301 | 1.1231 | None | gnomAD-2.1.1 | 4.02E-06 | |
27514 | 46 | V/F | 63 | rs745920301 | 1.1231 | None | gnomAD-4.0.0 | 6.84211E-07 | |
27514 | 46 | V/I | 63 | rs745920301 | 1.1231 | None | gnomAD-2.1.1 | 1.78E-05 | |
27514 | 46 | V/I | 63 | rs745920301 | 1.1231 | None | gnomAD-3.1.2 | 4.6E-05 | |
27514 | 46 | V/I | 63 | rs745920301 | 1.1231 | None | gnomAD-4.0.0 | 2.10689E-05 | |
27515 | 47 | R/T | 64 | rs757660615 | 0.7910 | None | gnomAD-2.1.1 | 1.21E-05 | |
27515 | 47 | R/T | 64 | rs757660615 | 0.7910 | None | gnomAD-4.0.0 | 7.95651E-06 | |
27516 | 48 | W/R | 65 | rs749677127 | 0.2382 | None | gnomAD-2.1.1 | 4.02E-06 | |
27516 | 48 | W/R | 65 | rs749677127 | 0.2382 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27517 | 49 | T/I | 66 | rs1559321324 | 0.4679 | None | gnomAD-2.1.1 | 4.02E-06 | |
27517 | 49 | T/I | 66 | rs1559321324 | 0.4679 | None | gnomAD-4.0.0 | 1.36843E-06 | |
27517 | 49 | T/N | 66 | None | 0.4679 | None | gnomAD-4.0.0 | 2.73685E-06 | |
27518 | 50 | K/N | 67 | None | 0.3209 | None | gnomAD-4.0.0 | 1.36842E-06 | |
27519 | 51 | C/R | 68 | rs756544826 | 0.2340 | None | gnomAD-2.1.1 | 4.02E-06 | |
27519 | 51 | C/R | 68 | rs756544826 | 0.2340 | None | gnomAD-4.0.0 | 1.59126E-06 | |
27519 | 51 | C/S | 68 | rs756544826 | 0.2340 | None | gnomAD-2.1.1 | 4.02E-06 | |
27519 | 51 | C/S | 68 | rs756544826 | 0.2340 | None | gnomAD-4.0.0 | 3.18251E-06 | |
27519 | 51 | C/Y | 68 | rs1186845754 | 0.2340 | None | gnomAD-2.1.1 | 3.19E-05 | |
27519 | 51 | C/Y | 68 | rs1186845754 | 0.2340 | None | gnomAD-3.1.2 | 1.31E-05 | |
27519 | 51 | C/Y | 68 | rs1186845754 | 0.2340 | None | gnomAD-4.0.0 | 1.31473E-05 | |
27520 | 52 | N/D | 69 | None | 0.1888 | None | gnomAD-4.0.0 | 1.36842E-06 | |
27520 | 52 | N/K | 69 | rs56264840 | 0.1888 | None | gnomAD-2.1.1 | 3.30797E-03 | |
27520 | 52 | N/K | 69 | rs56264840 | 0.1888 | None | gnomAD-3.1.2 | 1.72212E-03 | |
27520 | 52 | N/K | 69 | rs56264840 | 0.1888 | None | 1000 genomes | 5.79073E-03 | |
27520 | 52 | N/K | 69 | rs56264840 | 0.1888 | None | gnomAD-4.0.0 | 2.11365E-03 | |
27520 | 52 | N/S | 69 | None | 0.1888 | None | gnomAD-4.0.0 | 2.05263E-06 | |
27520 | 52 | N/T | 69 | None | 0.1888 | None | gnomAD-4.0.0 | 6.84209E-07 | |
27521 | 53 | K/E | 70 | rs1060500417 | 1.0854 | None | gnomAD-2.1.1 | 8.04E-06 | |
27521 | 53 | K/E | 70 | rs1060500417 | 1.0854 | None | gnomAD-4.0.0 | 3.18249E-06 | |
27522 | 54 | K/N | 72 | None | 0.9310 | None | gnomAD-4.0.0 | 2.40064E-06 | |
27523 | 55 | T/K | 75 | None | 0.8003 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27525 | 57 | T/M | 83 | rs1321989289 | 0.6395 | None | gnomAD-2.1.1 | 4.02E-06 | |
27525 | 57 | T/M | 83 | rs1321989289 | 0.6395 | None | gnomAD-4.0.0 | 4.78947E-06 | |
27527 | 59 | L/P | 89 | rs202169004 | 0.2144 | None | gnomAD-2.1.1 | 4.02E-06 | |
27527 | 59 | L/P | 89 | rs202169004 | 0.2144 | None | gnomAD-4.0.0 | 1.43215E-05 | |
27528 | 60 | R/Q | 90 | rs765230578 | 0.6303 | None | gnomAD-2.1.1 | 1.21E-05 | |
27528 | 60 | R/Q | 90 | rs765230578 | 0.6303 | None | gnomAD-3.1.2 | 2.63E-05 | |
27528 | 60 | R/Q | 90 | rs765230578 | 0.6303 | None | gnomAD-4.0.0 | 1.61126E-05 | |
27528 | 60 | R/W | 90 | rs749852593 | 0.6303 | None | gnomAD-2.1.1 | 3.22E-05 | |
27528 | 60 | R/W | 90 | rs749852593 | 0.6303 | None | gnomAD-3.1.2 | 1.97E-05 | |
27528 | 60 | R/W | 90 | rs749852593 | 0.6303 | None | gnomAD-4.0.0 | 2.29299E-05 | |
27530 | 62 | R/K | 92 | None | 0.5413 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27530 | 62 | R/T | 92 | None | 0.5413 | None | gnomAD-4.0.0 | 2.40064E-06 | |
27531 | 63 | V/I | 93 | rs1190495036 | 0.1718 | None | gnomAD-3.1.2 | 6.57E-06 | |
27531 | 63 | V/I | 93 | rs1190495036 | 0.1718 | None | gnomAD-4.0.0 | 2.56227E-06 | |
27531 | 63 | V/L | 93 | rs1190495036 | 0.1718 | None | gnomAD-2.1.1 | 7.14E-06 | |
27531 | 63 | V/L | 93 | rs1190495036 | 0.1718 | None | gnomAD-3.1.2 | 6.57E-06 | |
27531 | 63 | V/L | 93 | rs1190495036 | 0.1718 | None | gnomAD-4.0.0 | 2.56227E-06 | |
27532 | 64 | T/I | 94 | rs763850217 | 0.5964 | None | gnomAD-2.1.1 | 1.21E-05 | |
27532 | 64 | T/I | 94 | rs763850217 | 0.5964 | None | gnomAD-3.1.2 | 6.57E-06 | |
27532 | 64 | T/I | 94 | rs763850217 | 0.5964 | None | gnomAD-4.0.0 | 5.5774E-06 | |
27532 | 64 | T/S | 94 | rs763850217 | 0.5964 | None | gnomAD-2.1.1 | 4.02E-06 | |
27532 | 64 | T/S | 94 | rs763850217 | 0.5964 | None | gnomAD-4.0.0 | 1.36843E-06 | |
27533 | 65 | G/S | 96 | rs1704471479 | 0.4739 | None | gnomAD-4.0.0 | 4.1053E-06 | |
27534 | 66 | L/F | 97 | rs1219137799 | 0.1554 | None | gnomAD-2.1.1 | 4.02E-06 | |
27534 | 66 | L/F | 97 | rs1219137799 | 0.1554 | None | gnomAD-4.0.0 | 1.59129E-06 | |
27534 | 66 | L/P | 97 | rs1704468647 | 0.1554 | None | gnomAD-3.1.2 | 6.57E-06 | |
27534 | 66 | L/P | 97 | rs1704468647 | 0.1554 | None | gnomAD-4.0.0 | 6.57272E-06 | |
27535 | 67 | T/A | 98 | rs775733174 | 0.3944 | None | gnomAD-2.1.1 | 4.02E-06 | |
27535 | 67 | T/A | 98 | rs775733174 | 0.3944 | None | gnomAD-4.0.0 | 1.36843E-06 | |
27535 | 67 | T/I | 98 | None | 0.3944 | None | gnomAD-4.0.0 | 1.59127E-06 | |
27536 | 68 | E/K | 99 | rs745974517 | 0.5987 | None | gnomAD-2.1.1 | 3.62E-05 | |
27536 | 68 | E/K | 99 | rs745974517 | 0.5987 | None | gnomAD-4.0.0 | 1.09474E-05 | |
27537 | 69 | G/A | 100 | rs555055615 | 0.3414 | None | gnomAD-2.1.1 | 4.02E-06 | |
27537 | 69 | G/A | 100 | rs555055615 | 0.3414 | None | gnomAD-3.1.2 | 6.57E-06 | |
27537 | 69 | G/A | 100 | rs555055615 | 0.3414 | None | 1000 genomes | 1.99681E-04 | |
27537 | 69 | G/A | 100 | rs555055615 | 0.3414 | None | gnomAD-4.0.0 | 6.56927E-06 | |
27537 | 69 | G/D | 100 | rs555055615 | 0.3414 | None | gnomAD-2.1.1 | 8.04E-06 | |
27537 | 69 | G/D | 100 | rs555055615 | 0.3414 | None | gnomAD-4.0.0 | 6.36511E-06 | |
27538 | 70 | H/L | 102 | rs878933739 | 0.4374 | None | gnomAD-2.1.1 | 4.02E-06 | |
27538 | 70 | H/L | 102 | rs878933739 | 0.4374 | None | gnomAD-3.1.2 | 1.97E-05 | |
27538 | 70 | H/L | 102 | rs878933739 | 0.4374 | None | gnomAD-4.0.0 | 1.97169E-05 | |
27538 | 70 | H/R | 102 | rs878933739 | 0.4374 | None | gnomAD-3.1.2 | 6.57E-06 | |
27538 | 70 | H/R | 102 | rs878933739 | 0.4374 | None | gnomAD-4.0.0 | 2.02991E-06 | |
27539 | 71 | S/C | 103 | rs727503556 | 0.1998 | None | gnomAD-2.1.1 | 1.21E-05 | |
27539 | 71 | S/C | 103 | rs727503556 | 0.1998 | None | gnomAD-3.1.2 | 1.31E-05 | |
27539 | 71 | S/C | 103 | rs727503556 | 0.1998 | None | gnomAD-4.0.0 | 4.9577E-06 | |
27539 | 71 | S/T | 103 | None | 0.1998 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27540 | 72 | Y/C | 104 | rs913135593 | 0.1235 | None | gnomAD-2.1.1 | 4.02E-06 | |
27540 | 72 | Y/C | 104 | rs913135593 | 0.1235 | None | gnomAD-3.1.2 | 6.57E-06 | |
27540 | 72 | Y/C | 104 | rs913135593 | 0.1235 | None | gnomAD-4.0.0 | 3.84341E-06 | |
27542 | 74 | F/I | 106 | rs1704452293 | 0.1235 | None | gnomAD-4.0.0 | 2.05262E-06 | |
27543 | 75 | R/T | 107 | None | 0.2030 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27545 | 77 | A/T | 109 | rs770320388 | 0.1296 | None | gnomAD-2.1.1 | 4.02E-06 | |
27545 | 77 | A/T | 109 | rs770320388 | 0.1296 | None | gnomAD-4.0.0 | 1.59126E-06 | |
27546 | 78 | A/G | 110 | None | 0.1243 | None | gnomAD-4.0.0 | 1.59131E-06 | |
27546 | 78 | A/T | 110 | rs748482268 | 0.1243 | None | gnomAD-2.1.1 | 4.02E-06 | |
27546 | 78 | A/T | 110 | rs748482268 | 0.1243 | None | gnomAD-4.0.0 | 3.18254E-06 | |
27547 | 79 | E/K | 111 | rs779874042 | 0.3887 | None | gnomAD-2.1.1 | 2.01E-05 | |
27547 | 79 | E/K | 111 | rs779874042 | 0.3887 | None | gnomAD-4.0.0 | 1.02633E-05 | |
27549 | 81 | A/E | 113 | rs749950083 | 0.5576 | None | gnomAD-2.1.1 | 4.02E-06 | |
27549 | 81 | A/V | 113 | rs749950083 | 0.5576 | None | gnomAD-2.1.1 | 3.19E-05 | |
27549 | 81 | A/V | 113 | rs749950083 | 0.5576 | None | gnomAD-3.1.2 | 6.58E-06 | |
27549 | 81 | A/V | 113 | rs749950083 | 0.5576 | None | gnomAD-4.0.0 | 3.84376E-06 | |
27550 | 82 | A/T | 114 | rs778350547 | 0.3607 | None | gnomAD-2.1.1 | 4.42E-05 | |
27550 | 82 | A/T | 114 | rs778350547 | 0.3607 | None | gnomAD-4.0.0 | 1.59135E-05 | |
27552 | 84 | V/G | 117 | rs1215140042 | 0.5133 | None | gnomAD-4.0.0 | 1.5914E-06 | |
27552 | 84 | V/M | 117 | rs368730078 | 0.5133 | None | gnomAD-2.1.1 | 1.07E-05 | |
27552 | 84 | V/M | 117 | rs368730078 | 0.5133 | None | gnomAD-3.1.2 | 2.63E-05 | |
27552 | 84 | V/M | 117 | rs368730078 | 0.5133 | None | gnomAD-4.0.0 | 7.6876E-06 | |
27553 | 85 | G/A | 118 | rs753766297 | 0.2349 | None | gnomAD-2.1.1 | 4.02E-06 | |
27553 | 85 | G/A | 118 | rs753766297 | 0.2349 | None | gnomAD-4.0.0 | 6.84239E-07 | |
27553 | 85 | G/E | 118 | None | 0.2349 | None | gnomAD-4.0.0 | 6.84239E-07 | |
27554 | 86 | E/K | 119 | None | 0.6147 | None | gnomAD-4.0.0 | 1.36848E-06 | |
27554 | 86 | E/Q | 119 | None | 0.6147 | None | gnomAD-4.0.0 | 6.8424E-07 | |
27555 | 87 | P/A | 120 | None | 0.4245 | None | gnomAD-4.0.0 | 6.84248E-07 | |
27555 | 87 | P/L | 120 | rs1704434305 | 0.4245 | None | gnomAD-4.0.0 | 1.59147E-06 | |
27555 | 87 | P/S | 120 | rs1704435200 | 0.4245 | None | gnomAD-3.1.2 | 1.32E-05 | |
27555 | 87 | P/S | 120 | rs1704435200 | 0.4245 | None | gnomAD-4.0.0 | 3.09888E-06 | |
27556 | 88 | S/G | 121 | rs1181121628 | 0.1192 | None | gnomAD-2.1.1 | 4.03E-06 | |
27556 | 88 | S/G | 121 | rs1181121628 | 0.1192 | None | gnomAD-4.0.0 | 1.36851E-06 | |
27557 | 89 | E/D | 122 | rs1276281571 | 0.6554 | None | gnomAD-3.1.2 | 6.58E-06 | |
27557 | 89 | E/D | 122 | rs1276281571 | 0.6554 | None | gnomAD-4.0.0 | 6.57505E-06 | |
27557 | 89 | E/G | 122 | rs1704429643 | 0.6554 | None | gnomAD-3.1.2 | 6.58E-06 | |
27557 | 89 | E/G | 122 | rs1704429643 | 0.6554 | None | gnomAD-4.0.0 | 6.57774E-06 | |
27557 | 89 | E/K | 122 | rs1481869771 | 0.6554 | None | gnomAD-2.1.1 | 4.02E-06 | |
27557 | 89 | E/K | 122 | rs1481869771 | 0.6554 | None | gnomAD-3.1.2 | 6.58E-06 | |
27557 | 89 | E/K | 122 | rs1481869771 | 0.6554 | None | gnomAD-4.0.0 | 6.40705E-06 | |
27559 | 91 | S/C | 124 | rs763989757 | 0.1399 | None | gnomAD-2.1.1 | 4.03E-06 | |
27559 | 91 | S/C | 124 | rs763989757 | 0.1399 | None | gnomAD-3.1.2 | 1.97E-05 | |
27559 | 91 | S/C | 124 | rs763989757 | 0.1399 | None | gnomAD-4.0.0 | 5.12563E-06 | |
27559 | 91 | S/F | 124 | rs763989757 | 0.1399 | None | gnomAD-2.1.1 | 4.03E-06 | |
27559 | 91 | S/F | 124 | rs763989757 | 0.1399 | None | gnomAD-4.0.0 | 1.59153E-06 | |
27559 | 91 | S/P | 124 | None | 0.1399 | None | gnomAD-4.0.0 | 2.40064E-06 | |
27560 | 92 | V/I | 125 | rs937165329 | 0.6206 | None | gnomAD-2.1.1 | 3.19E-05 | |
27560 | 92 | V/I | 125 | rs937165329 | 0.6206 | None | gnomAD-3.1.2 | 1.97E-05 | |
27560 | 92 | V/I | 125 | rs937165329 | 0.6206 | None | gnomAD-4.0.0 | 1.97293E-05 | |
27560 | 92 | V/L | 125 | rs937165329 | 0.6206 | None | gnomAD-4.0.0 | 1.59146E-06 | |
27561 | 93 | F/S | 126 | None | 0.2918 | None | gnomAD-4.0.0 | 1.59145E-06 | |
27562 | 94 | Y/H | 127 | rs376616067 | 0.3241 | None | gnomAD-2.1.1 | 1.00102E-04 | |
27562 | 94 | Y/H | 127 | rs376616067 | 0.3241 | None | gnomAD-3.1.2 | 3.15657E-04 | |
27562 | 94 | Y/H | 127 | rs376616067 | 0.3241 | None | 1000 genomes | 1.99681E-04 | |
27562 | 94 | Y/H | 127 | rs376616067 | 0.3241 | None | gnomAD-4.0.0 | 5.94933E-05 | |
27563 | 95 | R/C | 129 | rs72648214 | 0.6138 | None | gnomAD-2.1.1 | 3.22E-05 | |
27563 | 95 | R/C | 129 | rs72648214 | 0.6138 | None | gnomAD-3.1.2 | 1.32E-05 | |
27563 | 95 | R/C | 129 | rs72648214 | 0.6138 | None | gnomAD-4.0.0 | 1.23962E-05 | |
27563 | 95 | R/H | 129 | rs118079537 | 0.6138 | None | gnomAD-2.1.1 | 2.50275E-04 | |
27563 | 95 | R/H | 129 | rs118079537 | 0.6138 | None | gnomAD-3.1.2 | 1.31574E-04 | |
27563 | 95 | R/H | 129 | rs118079537 | 0.6138 | None | 1000 genomes | 5.99042E-04 | |
27563 | 95 | R/H | 129 | rs118079537 | 0.6138 | None | gnomAD-4.0.0 | 6.75517E-05 | |
27563 | 95 | R/S | 129 | rs72648214 | 0.6138 | None | gnomAD-4.0.0 | 6.84261E-07 | |
27564 | 96 | A/E | 130 | rs55634791 | 0.5444 | None | gnomAD-3.1.2 | 6.58E-06 | |
27564 | 96 | A/E | 130 | rs55634791 | 0.5444 | None | gnomAD-4.0.0 | 6.57929E-06 | |
27564 | 96 | A/V | 130 | rs55634791 | 0.5444 | None | gnomAD-2.1.1 | 6.93724E-04 | |
27564 | 96 | A/V | 130 | rs55634791 | 0.5444 | None | gnomAD-3.1.2 | 8.4215E-04 | |
27564 | 96 | A/V | 130 | rs55634791 | 0.5444 | None | gnomAD-4.0.0 | 1.18196E-03 | |
27565 | 97 | C/Y | 131 | rs1408346565 | 0.9663 | None | gnomAD-2.1.1 | 4.03E-06 | |
27565 | 97 | C/Y | 131 | rs1408346565 | 0.9663 | None | gnomAD-4.0.0 | 1.20032E-06 |