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T | P | G | P | P | G | I | P | E | V | T | K | I | T | K | N | S | M | T | V | V | W | S | R | P | I | A | D | G | G | S | D | I | S | G | Y | F | L | E | K | R | D | K | K | S | L | G | W | F | K | V | L | K | E | T | I | R | D | T | R | Q | K | V | T | G | L | T | E | N | S | D | Y | Q | Y | R | V | C | A | V | N | A | A | G | Q | G | P | F | S | E | P | S | E | F | Y | K | A | A | D | P | I | D | P | P | G | P | P | A | K | I | R | I | A | D | S | T | K | S | S | I | T | L | G | W | S | K | P | V | Y | D | G | G | S | A | V | T | G | Y | V | V | E | I | R | Q | G | E | E | E | E | W | T | T | V | S | T | K | G | E | V | R | T | T | E | Y | V | V | S | N | L | K | P | G | V | N | Y | Y | F | R | V | S | A | V | N | C | A | G | Q | G | E | P | I | E | M | N | E | P | V | Q | A | K | D | I |
T | P | G | P | P | G | I | P | E | V | T | K | I | T | K | N | S | M | T | V | V | W | S | R | P | I | A | D | G | G | S | D | I | S | G | Y | F | L | E | K | R | D | K | K | S | L | G | W | F | K | V | L | K | E | T | I | R | D | T | R | Q | K | V | T | G | L | T | E | N | S | D | Y | Q | Y | R | V | C | A | V | N | A | A | G | Q | G | P | F | S | E | P | S | E | F | Y | K | A | A | D | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
29633 | 1 | T/A | 1 | None | 0.5231 | None | gnomAD-4.0.0 | 1.67725E-06 | |
29633 | 1 | T/K | 1 | None | 0.5231 | None | gnomAD-2.1.1 | 4.59E-06 | |
29633 | 1 | T/K | 1 | None | 0.5231 | None | gnomAD-4.0.0 | 1.67545E-06 | |
29634 | 2 | P/A | 2 | rs1559226382 | 0.1353 | None | gnomAD-3.1.2 | 1.31E-05 | |
29634 | 2 | P/A | 2 | rs1559226382 | 0.1353 | None | gnomAD-4.0.0 | 1.31456E-05 | |
29634 | 2 | P/L | 2 | None | 0.1353 | None | gnomAD-4.0.0 | 2.40079E-06 | |
29634 | 2 | P/S | 2 | None | 0.1353 | None | gnomAD-4.0.0 | 1.6715E-06 | |
29635 | 3 | G/E | 3 | rs1700410853 | 0.2502 | None | gnomAD-4.0.0 | 2.40068E-06 | |
29637 | 5 | P/R | 5 | None | 0.1256 | None | gnomAD-4.0.0 | 1.63807E-06 | |
29638 | 6 | G/S | 6 | rs1328502977 | 0.2373 | None | gnomAD-2.1.1 | 4.28E-06 | |
29638 | 6 | G/S | 6 | rs1328502977 | 0.2373 | None | gnomAD-4.0.0 | 1.38067E-06 | |
29639 | 7 | I/K | 7 | rs1039502047 | 0.5915 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29639 | 7 | I/M | 7 | None | 0.5915 | None | gnomAD-4.0.0 | 3.60097E-06 | |
29639 | 7 | I/V | 7 | rs1267455637 | 0.5915 | None | gnomAD-2.1.1 | 4.27E-06 | |
29639 | 7 | I/V | 7 | rs1267455637 | 0.5915 | None | gnomAD-4.0.0 | 1.37921E-06 | |
29640 | 8 | P/S | 9 | rs775145047 | 0.1358 | None | gnomAD-2.1.1 | 4.21E-06 | |
29640 | 8 | P/S | 9 | rs775145047 | 0.1358 | None | gnomAD-3.1.2 | 1.31E-05 | |
29640 | 8 | P/S | 9 | rs775145047 | 0.1358 | None | gnomAD-4.0.0 | 7.47788E-06 | |
29640 | 8 | P/T | 9 | None | 0.1358 | None | gnomAD-4.0.0 | 6.88427E-07 | |
29641 | 9 | E/K | 11 | rs772380405 | 0.7345 | None | gnomAD-2.1.1 | 1.26E-05 | |
29641 | 9 | E/K | 11 | rs772380405 | 0.7345 | None | gnomAD-4.0.0 | 2.75391E-06 | |
29642 | 10 | V/A | 12 | rs1318548034 | 0.1343 | None | gnomAD-2.1.1 | 4.15E-06 | |
29642 | 10 | V/A | 12 | rs1318548034 | 0.1343 | None | gnomAD-4.0.0 | 1.60862E-06 | |
29642 | 10 | V/G | 12 | rs1318548034 | 0.1343 | None | gnomAD-3.1.2 | 6.57E-06 | |
29642 | 10 | V/G | 12 | rs1318548034 | 0.1343 | None | gnomAD-4.0.0 | 6.56676E-06 | |
29643 | 11 | T/A | 13 | None | 0.4928 | None | gnomAD-4.0.0 | 1.60337E-06 | |
29643 | 11 | T/K | 13 | rs1307408186 | 0.4928 | None | gnomAD-2.1.1 | 4.13E-06 | |
29643 | 11 | T/K | 13 | rs1307408186 | 0.4928 | None | gnomAD-4.0.0 | 4.81084E-06 | |
29644 | 12 | K/R | 14 | None | 0.7236 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29645 | 13 | I/F | 15 | rs746067385 | 0.3098 | None | gnomAD-2.1.1 | 4.12E-06 | |
29645 | 13 | I/F | 15 | rs746067385 | 0.3098 | None | gnomAD-3.1.2 | 6.57E-06 | |
29645 | 13 | I/F | 15 | rs746067385 | 0.3098 | None | gnomAD-4.0.0 | 6.83497E-06 | |
29645 | 13 | I/T | 15 | rs774597895 | 0.3098 | None | gnomAD-2.1.1 | 1.65E-05 | |
29645 | 13 | I/T | 15 | rs774597895 | 0.3098 | None | gnomAD-4.0.0 | 8.01218E-06 | |
29646 | 14 | T/A | 16 | None | 0.3104 | None | gnomAD-4.0.0 | 1.60226E-06 | |
29646 | 14 | T/I | 16 | rs1338218286 | 0.3104 | None | gnomAD-2.1.1 | 4.13E-06 | |
29646 | 14 | T/I | 16 | rs1338218286 | 0.3104 | None | gnomAD-3.1.2 | 6.57E-06 | |
29646 | 14 | T/I | 16 | rs1338218286 | 0.3104 | None | gnomAD-4.0.0 | 1.24283E-06 | |
29646 | 14 | T/N | 16 | rs1338218286 | 0.3104 | None | gnomAD-3.1.2 | 6.57E-06 | |
29646 | 14 | T/N | 16 | rs1338218286 | 0.3104 | None | gnomAD-4.0.0 | 1.24283E-06 | |
29647 | 15 | K/N | 17 | rs368425375 | 0.3820 | None | gnomAD-2.1.1 | 8.25E-06 | |
29647 | 15 | K/N | 17 | rs368425375 | 0.3820 | None | gnomAD-3.1.2 | 1.31E-05 | |
29647 | 15 | K/N | 17 | rs368425375 | 0.3820 | None | gnomAD-4.0.0 | 7.72911E-06 | |
29648 | 16 | N/I | 18 | None | 0.5266 | None | gnomAD-4.0.0 | 1.60077E-06 | |
29649 | 17 | S/L | 19 | rs764695663 | 0.1557 | None | gnomAD-2.1.1 | 5.76E-05 | |
29649 | 17 | S/L | 19 | rs764695663 | 0.1557 | None | gnomAD-3.1.2 | 1.97E-05 | |
29649 | 17 | S/L | 19 | rs764695663 | 0.1557 | None | gnomAD-4.0.0 | 1.98743E-05 | |
29650 | 18 | M/I | 20 | rs944381912 | 0.0760 | None | gnomAD-2.1.1 | 3.19E-05 | |
29650 | 18 | M/I | 20 | rs944381912 | 0.0760 | None | gnomAD-3.1.2 | 1.97E-05 | |
29650 | 18 | M/I | 20 | rs944381912 | 0.0760 | None | gnomAD-4.0.0 | 3.1047E-06 | |
29650 | 18 | M/R | 20 | rs778289640 | 0.0760 | None | gnomAD-3.1.2 | 6.57E-06 | |
29650 | 18 | M/R | 20 | rs778289640 | 0.0760 | None | gnomAD-4.0.0 | 6.56961E-06 | |
29650 | 18 | M/T | 20 | rs778289640 | 0.0760 | None | gnomAD-2.1.1 | 3.64E-05 | |
29650 | 18 | M/T | 20 | rs778289640 | 0.0760 | None | gnomAD-3.1.2 | 1.31E-05 | |
29650 | 18 | M/T | 20 | rs778289640 | 0.0760 | None | gnomAD-4.0.0 | 4.96719E-06 | |
29651 | 19 | T/N | 21 | None | 0.2340 | None | gnomAD-4.0.0 | 1.20033E-06 | |
29651 | 19 | T/S | 21 | None | 0.2340 | None | gnomAD-4.0.0 | 1.20033E-06 | |
29652 | 20 | V/A | 22 | rs748609330 | 0.0886 | None | gnomAD-2.1.1 | 2.17E-05 | |
29652 | 20 | V/A | 22 | rs748609330 | 0.0886 | None | gnomAD-3.1.2 | 1.97E-05 | |
29652 | 20 | V/A | 22 | rs748609330 | 0.0886 | None | gnomAD-4.0.0 | 1.05495E-05 | |
29652 | 20 | V/I | 22 | rs756561910 | 0.0886 | None | gnomAD-2.1.1 | 1.81E-05 | |
29652 | 20 | V/I | 22 | rs756561910 | 0.0886 | None | gnomAD-3.1.2 | 6.57E-05 | |
29652 | 20 | V/I | 22 | rs756561910 | 0.0886 | None | gnomAD-4.0.0 | 1.92699E-05 | |
29655 | 23 | S/G | 25 | None | 0.4815 | None | gnomAD-4.0.0 | 1.20033E-06 | |
29655 | 23 | S/N | 25 | rs1387331840 | 0.4815 | None | gnomAD-2.1.1 | 8.09E-06 | |
29655 | 23 | S/N | 25 | rs1387331840 | 0.4815 | None | gnomAD-4.0.0 | 4.77617E-06 | |
29656 | 24 | R/G | 26 | None | 0.6925 | None | gnomAD-4.0.0 | 6.8427E-07 | |
29657 | 25 | P/T | 27 | rs1700388515 | 0.1741 | None | gnomAD-4.0.0 | 6.84252E-07 | |
29658 | 26 | I/T | 28 | rs750026544 | 1.2761 | None | gnomAD-2.1.1 | 2.42E-05 | |
29658 | 26 | I/T | 28 | rs750026544 | 1.2761 | None | gnomAD-3.1.2 | 1.31E-05 | |
29658 | 26 | I/T | 28 | rs750026544 | 1.2761 | None | gnomAD-4.0.0 | 9.91508E-06 | |
29658 | 26 | I/V | 28 | rs200193877 | 1.2761 | None | gnomAD-2.1.1 | 1.64902E-04 | |
29658 | 26 | I/V | 28 | rs200193877 | 1.2761 | None | gnomAD-3.1.2 | 2.36531E-04 | |
29658 | 26 | I/V | 28 | rs200193877 | 1.2761 | None | 1000 genomes | 1.99681E-04 | |
29658 | 26 | I/V | 28 | rs200193877 | 1.2761 | None | gnomAD-4.0.0 | 4.58525E-04 | |
29659 | 27 | A/V | 29 | None | 0.4550 | None | gnomAD-4.0.0 | 2.40065E-06 | |
29661 | 29 | G/D | 31 | rs764756194 | 0.4096 | None | gnomAD-2.1.1 | 4.03E-06 | |
29661 | 29 | G/D | 31 | rs764756194 | 0.4096 | None | gnomAD-4.0.0 | 3.07886E-05 | |
29662 | 30 | G/S | 32 | rs187460377 | 0.6872 | None | gnomAD-2.1.1 | 2.22023E-04 | |
29662 | 30 | G/S | 32 | rs187460377 | 0.6872 | None | gnomAD-3.1.2 | 1.90611E-04 | |
29662 | 30 | G/S | 32 | rs187460377 | 0.6872 | None | 1000 genomes | 1.99681E-04 | |
29662 | 30 | G/S | 32 | rs187460377 | 0.6872 | None | gnomAD-4.0.0 | 7.1879E-05 | |
29663 | 31 | S/R | 33 | None | 0.3024 | None | gnomAD-4.0.0 | 1.20033E-06 | |
29665 | 33 | I/L | 35 | None | 0.2367 | None | gnomAD-4.0.0 | 6.84187E-07 | |
29665 | 33 | I/R | 35 | None | 0.2367 | None | gnomAD-4.0.0 | 1.20033E-06 | |
29665 | 33 | I/V | 35 | rs1700376721 | 0.2367 | None | gnomAD-3.1.2 | 6.57E-06 | |
29665 | 33 | I/V | 35 | rs1700376721 | 0.2367 | None | gnomAD-4.0.0 | 3.09832E-06 | |
29666 | 34 | S/N | 36 | None | 0.4657 | None | gnomAD-4.0.0 | 2.40065E-06 | |
29667 | 35 | G/R | 37 | None | 0.1046 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29668 | 36 | Y/F | 38 | rs760499831 | 0.1108 | None | gnomAD-2.1.1 | 4.03E-06 | |
29668 | 36 | Y/F | 38 | rs760499831 | 0.1108 | None | gnomAD-3.1.2 | 2.63E-05 | |
29668 | 36 | Y/F | 38 | rs760499831 | 0.1108 | None | gnomAD-4.0.0 | 2.62874E-05 | |
29669 | 37 | F/S | 39 | None | 0.2323 | None | gnomAD-4.0.0 | 1.59111E-06 | |
29670 | 38 | L/P | 40 | rs931707459 | 0.1114 | None | gnomAD-2.1.1 | 4.03E-06 | |
29670 | 38 | L/P | 40 | rs931707459 | 0.1114 | None | gnomAD-4.0.0 | 2.05256E-06 | |
29671 | 39 | E/Q | 41 | None | 0.0936 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29672 | 40 | K/N | 42 | None | 0.2746 | None | gnomAD-4.0.0 | 1.59118E-06 | |
29673 | 41 | R/L | 43 | rs200639218 | 0.2191 | None | gnomAD-2.1.1 | 1.61E-05 | |
29673 | 41 | R/L | 43 | rs200639218 | 0.2191 | None | gnomAD-3.1.2 | 6.57E-06 | |
29673 | 41 | R/L | 43 | rs200639218 | 0.2191 | None | gnomAD-4.0.0 | 6.19677E-06 | |
29673 | 41 | R/Q | 43 | rs200639218 | 0.2191 | None | gnomAD-2.1.1 | 2.14378E-04 | |
29673 | 41 | R/Q | 43 | rs200639218 | 0.2191 | None | gnomAD-3.1.2 | 2.10308E-04 | |
29673 | 41 | R/Q | 43 | rs200639218 | 0.2191 | None | gnomAD-4.0.0 | 1.43146E-04 | |
29674 | 42 | D/N | 44 | None | 0.1928 | None | gnomAD-4.0.0 | 1.59111E-06 | |
29675 | 43 | K/R | 50 | None | 0.4207 | None | gnomAD-4.0.0 | 1.59106E-06 | |
29677 | 45 | S/R | 60 | None | 0.2522 | None | gnomAD-4.0.0 | 1.59113E-06 | |
29678 | 46 | L/P | 63 | None | 1.2292 | None | gnomAD-4.0.0 | 1.59118E-06 | |
29679 | 47 | G/R | 64 | rs774651157 | 0.2401 | None | gnomAD-2.1.1 | 4.02E-06 | |
29679 | 47 | G/R | 64 | rs774651157 | 0.2401 | None | gnomAD-3.1.2 | 1.31E-05 | |
29679 | 47 | G/R | 64 | rs774651157 | 0.2401 | None | gnomAD-4.0.0 | 2.66471E-05 | |
29680 | 48 | W/R | 65 | None | 0.2233 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29680 | 48 | W/S | 65 | rs1386322398 | 0.2233 | None | gnomAD-2.1.1 | 4.02E-06 | |
29680 | 48 | W/S | 65 | rs1386322398 | 0.2233 | None | gnomAD-4.0.0 | 1.59116E-06 | |
29682 | 50 | K/Q | 67 | rs370563246 | 0.3102 | None | gnomAD-2.1.1 | 1.61E-05 | |
29682 | 50 | K/Q | 67 | rs370563246 | 0.3102 | None | gnomAD-3.1.2 | 1.97E-05 | |
29682 | 50 | K/Q | 67 | rs370563246 | 0.3102 | None | gnomAD-4.0.0 | 1.85903E-05 | |
29683 | 51 | V/I | 68 | rs749433506 | 0.2698 | None | gnomAD-2.1.1 | 1.61E-05 | |
29683 | 51 | V/I | 68 | rs749433506 | 0.2698 | None | gnomAD-4.0.0 | 4.7735E-06 | |
29685 | 53 | K/R | 70 | rs773157007 | 1.0310 | None | gnomAD-2.1.1 | 1.61E-05 | |
29685 | 53 | K/R | 70 | rs773157007 | 1.0310 | None | gnomAD-4.0.0 | 6.36452E-06 | |
29686 | 54 | E/D | 72 | rs1164496806 | 0.8662 | None | gnomAD-2.1.1 | 4.02E-06 | |
29686 | 54 | E/K | 72 | None | 0.8662 | None | gnomAD-4.0.0 | 6.84199E-07 | |
29686 | 54 | E/Q | 72 | None | 0.8662 | None | gnomAD-4.0.0 | 6.84199E-07 | |
29688 | 56 | I/L | 77 | rs748577989 | 0.1262 | None | gnomAD-2.1.1 | 8.05E-06 | |
29688 | 56 | I/L | 77 | rs748577989 | 0.1262 | None | gnomAD-3.1.2 | 6.57E-06 | |
29688 | 56 | I/L | 77 | rs748577989 | 0.1262 | None | gnomAD-4.0.0 | 5.124E-06 | |
29688 | 56 | I/N | 77 | rs1559224502 | 0.1262 | None | gnomAD-4.0.0 | 6.15786E-06 | |
29688 | 56 | I/T | 77 | rs1559224502 | 0.1262 | None | gnomAD-2.1.1 | 8.04E-06 | |
29688 | 56 | I/T | 77 | rs1559224502 | 0.1262 | None | gnomAD-4.0.0 | 1.36841E-06 | |
29688 | 56 | I/V | 77 | rs748577989 | 0.1262 | None | gnomAD-3.1.2 | 6.57E-06 | |
29688 | 56 | I/V | 77 | rs748577989 | 0.1262 | None | gnomAD-4.0.0 | 2.562E-06 | |
29689 | 57 | R/C | 83 | rs781635476 | 0.9148 | None | gnomAD-2.1.1 | 8.05E-06 | |
29689 | 57 | R/C | 83 | rs781635476 | 0.9148 | None | gnomAD-3.1.2 | 1.31E-05 | |
29689 | 57 | R/C | 83 | rs781635476 | 0.9148 | None | gnomAD-4.0.0 | 1.42536E-05 | |
29689 | 57 | R/G | 83 | rs781635476 | 0.9148 | None | gnomAD-4.0.0 | 6.8422E-07 | |
29689 | 57 | R/H | 83 | rs368634670 | 0.9148 | None | gnomAD-2.1.1 | 3.57E-05 | |
29689 | 57 | R/H | 83 | rs368634670 | 0.9148 | None | gnomAD-3.1.2 | 1.11732E-04 | |
29689 | 57 | R/H | 83 | rs368634670 | 0.9148 | None | 1000 genomes | 1.99681E-04 | |
29689 | 57 | R/H | 83 | rs368634670 | 0.9148 | None | gnomAD-4.0.0 | 4.39954E-05 | |
29690 | 58 | D/N | 88 | rs1209113873 | 0.7383 | None | gnomAD-2.1.1 | 4.02E-06 | |
29690 | 58 | D/N | 88 | rs1209113873 | 0.7383 | None | gnomAD-4.0.0 | 1.36843E-06 | |
29691 | 59 | T/N | 89 | rs794729525 | 0.2129 | None | gnomAD-3.1.2 | 6.57E-06 | |
29691 | 59 | T/N | 89 | rs794729525 | 0.2129 | None | gnomAD-4.0.0 | 1.1155E-05 | |
29692 | 60 | R/K | 90 | rs745523889 | 0.6965 | None | gnomAD-2.1.1 | 8.05E-06 | |
29692 | 60 | R/K | 90 | rs745523889 | 0.6965 | None | gnomAD-4.0.0 | 6.1581E-06 | |
29693 | 61 | Q/H | 91 | rs778478943 | 0.2265 | None | gnomAD-2.1.1 | 8.05E-06 | |
29693 | 61 | Q/H | 91 | rs778478943 | 0.2265 | None | gnomAD-4.0.0 | 4.77395E-06 | |
29694 | 62 | K/E | 92 | rs1222832366 | 0.5199 | None | gnomAD-2.1.1 | 8.05E-06 | |
29694 | 62 | K/E | 92 | rs1222832366 | 0.5199 | None | gnomAD-4.0.0 | 1.59134E-06 | |
29694 | 62 | K/N | 92 | None | 0.5199 | None | gnomAD-4.0.0 | 1.59139E-06 | |
29696 | 64 | T/P | 94 | rs1341013204 | 0.6021 | None | gnomAD-2.1.1 | 4.02E-06 | |
29696 | 64 | T/P | 94 | rs1341013204 | 0.6021 | None | gnomAD-4.0.0 | 1.59148E-06 | |
29698 | 66 | L/I | 97 | rs756899225 | 0.1356 | None | gnomAD-2.1.1 | 4.02E-06 | |
29698 | 66 | L/I | 97 | rs756899225 | 0.1356 | None | gnomAD-4.0.0 | 9.58018E-06 | |
29699 | 67 | T/A | 98 | None | 0.5414 | None | gnomAD-4.0.0 | 6.84309E-07 | |
29700 | 68 | E/K | 99 | rs1301227457 | 0.4549 | None | gnomAD-2.1.1 | 4.03E-06 | |
29700 | 68 | E/K | 99 | rs1301227457 | 0.4549 | None | gnomAD-4.0.0 | 1.59198E-06 | |
29700 | 68 | E/V | 99 | rs763490789 | 0.4549 | None | gnomAD-4.0.0 | 2.053E-06 | |
29702 | 70 | S/G | 102 | rs1700336824 | 0.1494 | None | gnomAD-3.1.2 | 6.57E-06 | |
29702 | 70 | S/G | 102 | rs1700336824 | 0.1494 | None | gnomAD-4.0.0 | 2.0298E-06 | |
29702 | 70 | S/N | 102 | None | 0.1494 | None | gnomAD-4.0.0 | 3.42182E-06 | |
29702 | 70 | S/T | 102 | rs1304120500 | 0.1494 | None | gnomAD-4.0.0 | 2.73745E-06 | |
29703 | 71 | D/E | 103 | rs1368949216 | 0.2448 | None | gnomAD-2.1.1 | 4.03E-06 | |
29703 | 71 | D/V | 103 | rs1700334613 | 0.2448 | None | gnomAD-3.1.2 | 6.57E-06 | |
29703 | 71 | D/V | 103 | rs1700334613 | 0.2448 | None | gnomAD-4.0.0 | 3.84485E-06 | |
29703 | 71 | D/Y | 103 | rs1429421793 | 0.2448 | None | gnomAD-2.1.1 | 1.21E-05 | |
29703 | 71 | D/Y | 103 | rs1429421793 | 0.2448 | None | gnomAD-4.0.0 | 1.75151E-05 | |
29704 | 72 | Y/C | 104 | rs727504503 | 0.1105 | None | gnomAD-2.1.1 | 4.03E-06 | |
29704 | 72 | Y/C | 104 | rs727504503 | 0.1105 | None | gnomAD-3.1.2 | 1.31E-05 | |
29704 | 72 | Y/C | 104 | rs727504503 | 0.1105 | None | gnomAD-4.0.0 | 4.33887E-06 | |
29705 | 73 | Q/H | 105 | None | 0.0898 | None | gnomAD-4.0.0 | 1.23202E-05 | |
29705 | 73 | Q/R | 105 | rs752538734 | 0.0898 | None | gnomAD-2.1.1 | 8.06E-06 | |
29705 | 73 | Q/R | 105 | rs752538734 | 0.0898 | None | gnomAD-4.0.0 | 1.09514E-05 | |
29707 | 75 | R/G | 107 | None | 0.1143 | None | gnomAD-4.0.0 | 1.59287E-06 | |
29708 | 76 | V/G | 108 | None | 0.0609 | None | gnomAD-4.0.0 | 1.59332E-06 | |
29708 | 76 | V/L | 108 | None | 0.0609 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29709 | 77 | C/Y | 109 | None | 0.0624 | None | gnomAD-4.0.0 | 1.59369E-06 | |
29710 | 78 | A/T | 110 | None | 0.0940 | None | gnomAD-4.0.0 | 6.84738E-07 | |
29711 | 79 | V/I | 111 | None | 0.1530 | None | gnomAD-4.0.0 | 1.59482E-06 | |
29713 | 81 | A/T | 113 | rs1199888872 | 0.6793 | None | gnomAD-2.1.1 | 4.05E-06 | |
29713 | 81 | A/T | 113 | rs1199888872 | 0.6793 | None | gnomAD-3.1.2 | 1.31E-05 | |
29713 | 81 | A/T | 113 | rs1199888872 | 0.6793 | None | gnomAD-4.0.0 | 9.92656E-06 | |
29716 | 84 | Q/P | 117 | rs1482572884 | 0.3709 | None | gnomAD-2.1.1 | 4.07E-06 | |
29716 | 84 | Q/P | 117 | rs1482572884 | 0.3709 | None | gnomAD-4.0.0 | 1.60012E-06 | |
29717 | 85 | G/D | 118 | None | 0.1902 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29717 | 85 | G/R | 118 | rs751391249 | 0.1902 | None | gnomAD-2.1.1 | 2.45E-05 | |
29717 | 85 | G/R | 118 | rs751391249 | 0.1902 | None | gnomAD-4.0.0 | 6.17602E-06 | |
29718 | 86 | P/A | 119 | rs765594600 | 0.4163 | None | gnomAD-2.1.1 | 4.08E-06 | |
29718 | 86 | P/A | 119 | rs765594600 | 0.4163 | None | gnomAD-4.0.0 | 1.44141E-05 | |
29718 | 86 | P/R | 119 | None | 0.4163 | None | gnomAD-4.0.0 | 3.20749E-06 | |
29718 | 86 | P/S | 119 | rs765594600 | 0.4163 | None | gnomAD-3.1.2 | 6.57E-06 | |
29718 | 86 | P/S | 119 | rs765594600 | 0.4163 | None | gnomAD-4.0.0 | 6.57117E-06 | |
29720 | 88 | S/A | 121 | rs555559270 | 0.1069 | None | gnomAD-2.1.1 | 4.1E-06 | |
29720 | 88 | S/A | 121 | rs555559270 | 0.1069 | None | gnomAD-4.0.0 | 2.74763E-06 | |
29720 | 88 | S/Y | 121 | rs1553543837 | 0.1069 | None | gnomAD-4.0.0 | 1.60622E-06 | |
29722 | 90 | P/A | 123 | None | 0.3607 | None | gnomAD-4.0.0 | 2.06279E-06 | |
29722 | 90 | P/Q | 123 | rs763050858 | 0.3607 | None | gnomAD-2.1.1 | 4.13E-06 | |
29722 | 90 | P/Q | 123 | rs763050858 | 0.3607 | None | gnomAD-4.0.0 | 1.61136E-06 | |
29722 | 90 | P/S | 123 | None | 0.3607 | None | gnomAD-4.0.0 | 2.75038E-06 | |
29722 | 90 | P/T | 123 | rs538120743 | 0.3607 | None | gnomAD-2.1.1 | 3.7E-05 | |
29722 | 90 | P/T | 123 | rs538120743 | 0.3607 | None | gnomAD-3.1.2 | 6.57E-06 | |
29722 | 90 | P/T | 123 | rs538120743 | 0.3607 | None | 1000 genomes | 1.99681E-04 | |
29722 | 90 | P/T | 123 | rs538120743 | 0.3607 | None | gnomAD-4.0.0 | 1.12034E-05 | |
29723 | 91 | S/P | 124 | rs1479424442 | 0.1229 | None | gnomAD-3.1.2 | 6.57E-06 | |
29723 | 91 | S/P | 124 | rs1479424442 | 0.1229 | None | gnomAD-4.0.0 | 6.56944E-06 | |
29723 | 91 | S/Y | 124 | None | 0.1229 | None | gnomAD-4.0.0 | 1.61291E-06 | |
29724 | 92 | E/D | 125 | None | 0.6771 | None | gnomAD-4.0.0 | 1.61543E-06 | |
29724 | 92 | E/K | 125 | rs370918981 | 0.6771 | None | gnomAD-2.1.1 | 1.47E-05 | |
29724 | 92 | E/K | 125 | rs370918981 | 0.6771 | None | gnomAD-3.1.2 | 1.31E-05 | |
29724 | 92 | E/K | 125 | rs370918981 | 0.6771 | None | gnomAD-4.0.0 | 1.68287E-05 | |
29725 | 93 | F/S | 126 | rs1284407579 | 0.2898 | None | gnomAD-2.1.1 | 4.16E-06 | |
29725 | 93 | F/S | 126 | rs1284407579 | 0.2898 | None | gnomAD-4.0.0 | 1.6182E-06 | |
29726 | 94 | Y/C | 127 | rs1348960707 | 0.2355 | None | gnomAD-2.1.1 | 4.18E-06 | |
29726 | 94 | Y/C | 127 | rs1348960707 | 0.2355 | None | gnomAD-4.0.0 | 1.62179E-06 | |
29726 | 94 | Y/H | 127 | None | 0.2355 | None | gnomAD-4.0.0 | 3.24086E-06 | |
29728 | 96 | A/S | 130 | None | 0.0744 | None | gnomAD-4.0.0 | 6.90785E-07 |