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T | P | G | P | P | Q | D | L | K | V | K | E | V | T | K | T | S | V | T | L | T | W | D | P | P | L | L | D | G | G | S | K | I | K | N | Y | I | V | E | K | R | E | S | T | R | K | A | Y | S | T | V | A | T | N | C | H | K | T | S | W | K | V | D | Q | L | Q | E | G | C | S | Y | Y | F | R | V | L | A | E | N | E | Y | G | I | G | L | P | A | E | T | A | E | S | V | K | A | S | E | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
24519 | 1 | T/I | 1 | rs747442288 | 0.4183 | None | gnomAD-2.1.1 | 7.15E-06 | |
24519 | 1 | T/I | 1 | rs747442288 | 0.4183 | None | gnomAD-3.1.2 | 6.58E-06 | |
24519 | 1 | T/I | 1 | rs747442288 | 0.4183 | None | gnomAD-4.0.0 | 5.57862E-06 | |
24519 | 1 | T/P | 1 | None | 0.4183 | None | gnomAD-4.0.0 | 1.592E-06 | |
24520 | 2 | P/A | 2 | rs780474186 | 0.1104 | None | gnomAD-2.1.1 | 4.03E-06 | |
24520 | 2 | P/A | 2 | rs780474186 | 0.1104 | None | gnomAD-4.0.0 | 6.84346E-07 | |
24520 | 2 | P/L | 2 | None | 0.1104 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24520 | 2 | P/T | 2 | None | 0.1104 | None | gnomAD-4.0.0 | 6.84346E-07 | |
24521 | 3 | G/D | 3 | None | 0.1921 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24522 | 4 | P/A | 4 | rs1195696847 | 0.3262 | None | gnomAD-2.1.1 | 4.03E-06 | |
24522 | 4 | P/A | 4 | rs1195696847 | 0.3262 | None | gnomAD-4.0.0 | 1.59198E-06 | |
24522 | 4 | P/R | 4 | None | 0.3262 | None | gnomAD-4.0.0 | 1.59202E-06 | |
24523 | 5 | P/L | 5 | None | 0.1193 | None | gnomAD-4.0.0 | 1.36869E-06 | |
24523 | 5 | P/Q | 5 | rs753557799 | 0.1193 | None | gnomAD-2.1.1 | 3.22E-05 | |
24523 | 5 | P/Q | 5 | rs753557799 | 0.1193 | None | gnomAD-4.0.0 | 5.47478E-06 | |
24523 | 5 | P/R | 5 | None | 0.1193 | None | gnomAD-4.0.0 | 1.36869E-06 | |
24523 | 5 | P/T | 5 | rs1280513533 | 0.1193 | None | gnomAD-2.1.1 | 4.03E-06 | |
24523 | 5 | P/T | 5 | rs1280513533 | 0.1193 | None | gnomAD-4.0.0 | 1.59198E-06 | |
24524 | 6 | Q/E | 6 | None | 0.2754 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24524 | 6 | Q/K | 6 | rs753429609 | 0.2754 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24525 | 7 | D/E | 7 | rs1039373351 | 0.5089 | None | gnomAD-4.0.0 | 2.053E-06 | |
24525 | 7 | D/N | 7 | rs1273296080 | 0.5089 | None | gnomAD-3.1.2 | 6.58E-06 | |
24525 | 7 | D/N | 7 | rs1273296080 | 0.5089 | None | gnomAD-4.0.0 | 1.85953E-06 | |
24525 | 7 | D/V | 7 | None | 0.5089 | None | gnomAD-4.0.0 | 1.59195E-06 | |
24527 | 9 | K/N | 11 | rs763480481 | 0.3831 | None | gnomAD-2.1.1 | 4.03E-06 | |
24527 | 9 | K/N | 11 | rs763480481 | 0.3831 | None | gnomAD-4.0.0 | 6.84344E-07 | |
24527 | 9 | K/T | 11 | None | 0.3831 | None | gnomAD-4.0.0 | 3.60097E-06 | |
24530 | 12 | E/A | 14 | None | 0.5691 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24530 | 12 | E/D | 14 | None | 0.5691 | None | gnomAD-4.0.0 | 6.84351E-07 | |
24530 | 12 | E/K | 14 | None | 0.5691 | None | gnomAD-4.0.0 | 1.36869E-06 | |
24531 | 13 | V/D | 15 | None | 0.2532 | None | gnomAD-4.0.0 | 1.59203E-06 | |
24531 | 13 | V/F | 15 | None | 0.2532 | None | gnomAD-4.0.0 | 2.05306E-06 | |
24532 | 14 | T/I | 16 | None | 0.2776 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24532 | 14 | T/P | 16 | rs752664615 | 0.2776 | None | gnomAD-2.1.1 | 4.03E-06 | |
24534 | 16 | T/P | 18 | rs767625831 | 0.3719 | None | gnomAD-3.1.2 | 1.31E-05 | |
24534 | 16 | T/P | 18 | rs767625831 | 0.3719 | None | gnomAD-4.0.0 | 1.31496E-05 | |
24534 | 16 | T/S | 18 | rs767625831 | 0.3719 | None | gnomAD-4.0.0 | 2.05303E-06 | |
24535 | 17 | S/C | 19 | None | 0.1523 | None | gnomAD-4.0.0 | 6.84357E-07 | |
24535 | 17 | S/F | 19 | rs201804005 | 0.1523 | None | gnomAD-3.1.2 | 6.57E-06 | |
24535 | 17 | S/F | 19 | rs201804005 | 0.1523 | None | gnomAD-4.0.0 | 6.57428E-06 | |
24535 | 17 | S/P | 19 | None | 0.1523 | None | gnomAD-4.0.0 | 1.36869E-06 | |
24535 | 17 | S/Y | 19 | rs201804005 | 0.1523 | None | gnomAD-2.1.1 | 4.43256E-04 | |
24535 | 17 | S/Y | 19 | rs201804005 | 0.1523 | None | gnomAD-3.1.2 | 3.81308E-04 | |
24535 | 17 | S/Y | 19 | rs201804005 | 0.1523 | None | 1000 genomes | 1.99681E-04 | |
24535 | 17 | S/Y | 19 | rs201804005 | 0.1523 | None | gnomAD-4.0.0 | 3.2291E-04 | |
24536 | 18 | V/D | 20 | rs766221938 | 0.0958 | None | gnomAD-2.1.1 | 4.03E-06 | |
24536 | 18 | V/D | 20 | rs766221938 | 0.0958 | None | gnomAD-4.0.0 | 2.05303E-06 | |
24536 | 18 | V/I | 20 | None | 0.0958 | None | gnomAD-4.0.0 | 6.84348E-07 | |
24536 | 18 | V/L | 20 | rs1189074797 | 0.0958 | None | gnomAD-2.1.1 | 4.03E-06 | |
24536 | 18 | V/L | 20 | rs1189074797 | 0.0958 | None | gnomAD-4.0.0 | 6.84348E-07 | |
24537 | 19 | T/A | 21 | rs1192398039 | 0.1927 | None | gnomAD-2.1.1 | 3.19E-05 | |
24537 | 19 | T/A | 21 | rs1192398039 | 0.1927 | None | gnomAD-3.1.2 | 6.57E-06 | |
24537 | 19 | T/A | 21 | rs1192398039 | 0.1927 | None | gnomAD-4.0.0 | 6.57367E-06 | |
24537 | 19 | T/I | 21 | rs1452164843 | 0.1927 | None | gnomAD-2.1.1 | 3.19E-05 | |
24537 | 19 | T/I | 21 | rs1452164843 | 0.1927 | None | gnomAD-3.1.2 | 6.57E-06 | |
24537 | 19 | T/I | 21 | rs1452164843 | 0.1927 | None | gnomAD-4.0.0 | 6.57471E-06 | |
24538 | 20 | L/P | 22 | None | 0.1192 | None | gnomAD-4.0.0 | 2.40064E-06 | |
24539 | 21 | T/R | 23 | rs890303676 | 0.2340 | None | gnomAD-2.1.1 | 3.19E-05 | |
24539 | 21 | T/R | 23 | rs890303676 | 0.2340 | None | gnomAD-3.1.2 | 6.58E-06 | |
24539 | 21 | T/R | 23 | rs890303676 | 0.2340 | None | gnomAD-4.0.0 | 3.84515E-06 | |
24540 | 22 | W/G | 24 | rs564995755 | 0.1012 | None | gnomAD-2.1.1 | 4.03E-06 | |
24540 | 22 | W/G | 24 | rs564995755 | 0.1012 | None | gnomAD-3.1.2 | 6.57E-06 | |
24540 | 22 | W/G | 24 | rs564995755 | 0.1012 | None | 1000 genomes | 1.99681E-04 | |
24540 | 22 | W/G | 24 | rs564995755 | 0.1012 | None | gnomAD-4.0.0 | 6.56918E-06 | |
24540 | 22 | W/R | 24 | None | 0.1012 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24541 | 23 | D/E | 25 | None | 0.4709 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24541 | 23 | D/H | 25 | None | 0.4709 | None | gnomAD-4.0.0 | 6.84369E-07 | |
24541 | 23 | D/N | 25 | rs868185177 | 0.4709 | None | gnomAD-4.0.0 | 1.36874E-06 | |
24542 | 24 | P/L | 26 | None | 0.4649 | None | gnomAD-4.0.0 | 6.84383E-07 | |
24542 | 24 | P/R | 26 | rs901760899 | 0.4649 | None | gnomAD-4.0.0 | 3.42192E-06 | |
24542 | 24 | P/T | 26 | None | 0.4649 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24543 | 25 | P/A | 27 | None | 0.1506 | None | gnomAD-4.0.0 | 4.8013E-06 | |
24543 | 25 | P/R | 27 | None | 0.1506 | None | gnomAD-4.0.0 | 1.59221E-06 | |
24543 | 25 | P/S | 27 | rs1277675236 | 0.1506 | None | gnomAD-3.1.2 | 1.32E-05 | |
24543 | 25 | P/S | 27 | rs1277675236 | 0.1506 | None | gnomAD-4.0.0 | 7.10529E-06 | |
24544 | 26 | L/F | 28 | rs777417650 | 0.8927 | None | gnomAD-2.1.1 | 1.61E-05 | |
24544 | 26 | L/F | 28 | rs777417650 | 0.8927 | None | gnomAD-3.1.2 | 1.97E-05 | |
24544 | 26 | L/F | 28 | rs777417650 | 0.8927 | None | gnomAD-4.0.0 | 2.29354E-05 | |
24544 | 26 | L/V | 28 | None | 0.8927 | None | gnomAD-4.0.0 | 6.84397E-07 | |
24545 | 27 | L/P | 29 | rs865922152 | 0.9275 | None | gnomAD-4.0.0 | 1.36879E-06 | |
24545 | 27 | L/R | 29 | None | 0.9275 | None | gnomAD-4.0.0 | 1.36879E-06 | |
24546 | 28 | D/E | 30 | None | 0.2941 | None | gnomAD-4.0.0 | 6.84409E-07 | |
24546 | 28 | D/H | 30 | rs1051495269 | 0.2941 | None | gnomAD-2.1.1 | 1.07E-05 | |
24546 | 28 | D/H | 30 | rs1051495269 | 0.2941 | None | gnomAD-3.1.2 | 1.97E-05 | |
24546 | 28 | D/H | 30 | rs1051495269 | 0.2941 | None | gnomAD-4.0.0 | 3.71946E-06 | |
24546 | 28 | D/V | 30 | rs769744030 | 0.2941 | None | gnomAD-2.1.1 | 2.15E-05 | |
24546 | 28 | D/V | 30 | rs769744030 | 0.2941 | None | gnomAD-3.1.2 | 2.63E-05 | |
24546 | 28 | D/V | 30 | rs769744030 | 0.2941 | None | gnomAD-4.0.0 | 1.42577E-05 | |
24547 | 29 | G/E | 31 | rs777119155 | 0.2982 | None | gnomAD-2.1.1 | 8.06E-06 | |
24547 | 29 | G/E | 31 | rs777119155 | 0.2982 | None | gnomAD-4.0.0 | 6.16026E-06 | |
24548 | 30 | G/S | 32 | None | 0.6017 | None | gnomAD-4.0.0 | 6.84548E-07 | |
24548 | 30 | G/V | 32 | rs551033308 | 0.6017 | None | gnomAD-3.1.2 | 6.58E-06 | |
24548 | 30 | G/V | 32 | rs551033308 | 0.6017 | None | 1000 genomes | 1.99681E-04 | |
24548 | 30 | G/V | 32 | rs551033308 | 0.6017 | None | gnomAD-4.0.0 | 2.56469E-06 | |
24549 | 31 | S/T | 33 | None | 0.1632 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24550 | 32 | K/E | 34 | rs1323106581 | 0.8279 | None | gnomAD-4.0.0 | 1.36906E-06 | |
24551 | 33 | I/V | 35 | rs879246805 | 0.2025 | None | gnomAD-2.1.1 | 1.79E-05 | |
24551 | 33 | I/V | 35 | rs879246805 | 0.2025 | None | gnomAD-3.1.2 | 1.97E-05 | |
24551 | 33 | I/V | 35 | rs879246805 | 0.2025 | None | gnomAD-4.0.0 | 8.97714E-06 | |
24552 | 34 | K/Q | 36 | None | 0.4102 | None | gnomAD-4.0.0 | 1.59307E-06 | |
24553 | 35 | N/K | 37 | rs1368527977 | 0.1701 | None | gnomAD-2.1.1 | 4.03E-06 | |
24554 | 36 | Y/S | 38 | None | 0.1218 | None | gnomAD-4.0.0 | 1.59311E-06 | |
24555 | 37 | I/V | 39 | rs1708576305 | 0.1622 | None | gnomAD-4.0.0 | 1.59304E-06 | |
24556 | 38 | V/F | 40 | rs532581749 | 0.1050 | None | gnomAD-2.1.1 | 4.03E-06 | |
24556 | 38 | V/F | 40 | rs532581749 | 0.1050 | None | gnomAD-3.1.2 | 6.58E-06 | |
24556 | 38 | V/F | 40 | rs532581749 | 0.1050 | None | 1000 genomes | 1.99681E-04 | |
24556 | 38 | V/F | 40 | rs532581749 | 0.1050 | None | gnomAD-4.0.0 | 6.57125E-06 | |
24556 | 38 | V/L | 40 | None | 0.1050 | None | gnomAD-4.0.0 | 1.36941E-06 | |
24557 | 39 | E/K | 41 | rs747530483 | 0.1272 | None | gnomAD-2.1.1 | 4.03E-06 | |
24557 | 39 | E/K | 41 | rs747530483 | 0.1272 | None | gnomAD-4.0.0 | 1.08029E-05 | |
24559 | 41 | R/Q | 43 | rs780238881 | 0.1354 | None | gnomAD-2.1.1 | 2.42E-05 | |
24559 | 41 | R/Q | 43 | rs780238881 | 0.1354 | None | gnomAD-3.1.2 | 6.58E-06 | |
24559 | 41 | R/Q | 43 | rs780238881 | 0.1354 | None | gnomAD-4.0.0 | 1.86088E-05 | |
24559 | 41 | R/W | 43 | rs367904757 | 0.1354 | None | gnomAD-2.1.1 | 3.19E-05 | |
24559 | 41 | R/W | 43 | rs367904757 | 0.1354 | None | gnomAD-3.1.2 | 1.32E-05 | |
24559 | 41 | R/W | 43 | rs367904757 | 0.1354 | None | gnomAD-4.0.0 | 6.20327E-06 | |
24560 | 42 | E/A | 44 | None | 0.2947 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24561 | 43 | S/L | 50 | None | 0.3134 | None | gnomAD-4.0.0 | 2.40064E-06 | |
24562 | 44 | T/R | 54 | None | 0.7630 | None | gnomAD-4.0.0 | 1.36961E-06 | |
24563 | 45 | R/G | 60 | None | 0.5835 | None | gnomAD-4.0.0 | 1.59418E-06 | |
24563 | 45 | R/T | 60 | rs560347347 | 0.5835 | None | gnomAD-3.1.2 | 6.58E-06 | |
24563 | 45 | R/T | 60 | rs560347347 | 0.5835 | None | 1000 genomes | 1.99681E-04 | |
24563 | 45 | R/T | 60 | rs560347347 | 0.5835 | None | gnomAD-4.0.0 | 6.57091E-06 | |
24564 | 46 | K/I | 63 | rs758888839 | 1.0437 | None | gnomAD-2.1.1 | 3.19E-05 | |
24564 | 46 | K/I | 63 | rs758888839 | 1.0437 | None | gnomAD-3.1.2 | 6.58E-06 | |
24564 | 46 | K/I | 63 | rs758888839 | 1.0437 | None | gnomAD-4.0.0 | 9.92236E-06 | |
24565 | 47 | A/T | 64 | rs772524912 | 0.5486 | None | gnomAD-2.1.1 | 4.03E-06 | |
24565 | 47 | A/T | 64 | rs772524912 | 0.5486 | None | gnomAD-3.1.2 | 6.58E-06 | |
24565 | 47 | A/T | 64 | rs772524912 | 0.5486 | None | gnomAD-4.0.0 | 2.56627E-06 | |
24565 | 47 | A/V | 64 | rs865844614 | 0.5486 | None | gnomAD-4.0.0 | 3.42362E-06 | |
24566 | 48 | Y/C | 65 | rs748869822 | 0.2000 | None | gnomAD-2.1.1 | 8.05E-06 | |
24566 | 48 | Y/C | 65 | rs748869822 | 0.2000 | None | gnomAD-4.0.0 | 3.1878E-06 | |
24567 | 49 | S/A | 66 | rs1415840930 | 0.3434 | None | gnomAD-2.1.1 | 4.03E-06 | |
24567 | 49 | S/A | 66 | rs1415840930 | 0.3434 | None | gnomAD-4.0.0 | 6.84665E-07 | |
24567 | 49 | S/P | 66 | None | 0.3434 | None | gnomAD-4.0.0 | 2.054E-06 | |
24569 | 51 | V/D | 68 | None | 0.2893 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24569 | 51 | V/G | 68 | rs540403126 | 0.2893 | None | gnomAD-3.1.2 | 6.58E-06 | |
24569 | 51 | V/G | 68 | rs540403126 | 0.2893 | None | 1000 genomes | 1.99681E-04 | |
24569 | 51 | V/G | 68 | rs540403126 | 0.2893 | None | gnomAD-4.0.0 | 6.57117E-06 | |
24569 | 51 | V/I | 68 | rs755676676 | 0.2893 | None | gnomAD-2.1.1 | 8.05E-06 | |
24569 | 51 | V/I | 68 | rs755676676 | 0.2893 | None | gnomAD-4.0.0 | 6.1613E-06 | |
24569 | 51 | V/L | 68 | rs755676676 | 0.2893 | None | gnomAD-2.1.1 | 1.61E-05 | |
24569 | 51 | V/L | 68 | rs755676676 | 0.2893 | None | gnomAD-3.1.2 | 1.32E-05 | |
24569 | 51 | V/L | 68 | rs755676676 | 0.2893 | None | gnomAD-4.0.0 | 1.24008E-05 | |
24570 | 52 | A/G | 69 | None | 0.1373 | None | gnomAD-4.0.0 | 1.59325E-06 | |
24571 | 53 | T/A | 70 | rs752184535 | 0.5899 | None | gnomAD-2.1.1 | 4.03E-06 | |
24571 | 53 | T/A | 70 | rs752184535 | 0.5899 | None | gnomAD-4.0.0 | 1.59322E-06 | |
24571 | 53 | T/I | 70 | None | 0.5899 | None | gnomAD-4.0.0 | 4.77992E-06 | |
24573 | 55 | C/Y | 77 | rs1240637296 | 0.0822 | None | gnomAD-2.1.1 | 4.03E-06 | |
24574 | 56 | H/L | 83 | rs754917150 | 0.6210 | None | gnomAD-2.1.1 | 4.03E-06 | |
24575 | 57 | K/R | 88 | rs766059820 | 0.8109 | None | gnomAD-2.1.1 | 8.05E-06 | |
24575 | 57 | K/R | 88 | rs766059820 | 0.8109 | None | gnomAD-3.1.2 | 6.57E-06 | |
24575 | 57 | K/R | 88 | rs766059820 | 0.8109 | None | gnomAD-4.0.0 | 3.84676E-06 | |
24578 | 60 | W/C | 91 | rs753105114 | 0.4436 | None | gnomAD-3.1.2 | 6.58E-06 | |
24578 | 60 | W/C | 91 | rs753105114 | 0.4436 | None | gnomAD-4.0.0 | 6.84538E-07 | |
24578 | 60 | W/R | 91 | rs1276766342 | 0.4436 | None | gnomAD-2.1.1 | 3.19E-05 | |
24578 | 60 | W/R | 91 | rs1276766342 | 0.4436 | None | gnomAD-3.1.2 | 6.57E-06 | |
24578 | 60 | W/R | 91 | rs1276766342 | 0.4436 | None | gnomAD-4.0.0 | 2.56448E-06 | |
24580 | 62 | V/A | 93 | rs141005138 | 0.1249 | None | gnomAD-2.1.1 | 8.05E-06 | |
24580 | 62 | V/A | 93 | rs141005138 | 0.1249 | None | gnomAD-3.1.2 | 1.97E-05 | |
24580 | 62 | V/A | 93 | rs141005138 | 0.1249 | None | 1000 genomes | 3.99361E-04 | |
24580 | 62 | V/A | 93 | rs141005138 | 0.1249 | None | gnomAD-4.0.0 | 6.19933E-06 | |
24580 | 62 | V/I | 93 | rs765510494 | 0.1249 | None | gnomAD-2.1.1 | 4.03E-06 | |
24580 | 62 | V/I | 93 | rs765510494 | 0.1249 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24581 | 63 | D/A | 94 | None | 0.5458 | None | gnomAD-4.0.0 | 6.84517E-07 | |
24581 | 63 | D/E | 94 | rs727504603 | 0.5458 | None | gnomAD-2.1.1 | 4.03E-06 | |
24581 | 63 | D/E | 94 | rs727504603 | 0.5458 | None | gnomAD-4.0.0 | 2.46432E-05 | |
24582 | 64 | Q/H | 96 | None | 0.7965 | None | gnomAD-4.0.0 | 6.84538E-07 | |
24582 | 64 | Q/P | 96 | rs375186364 | 0.7965 | None | gnomAD-2.1.1 | 4.03E-06 | |
24582 | 64 | Q/P | 96 | rs375186364 | 0.7965 | None | gnomAD-3.1.2 | 1.31E-05 | |
24582 | 64 | Q/P | 96 | rs375186364 | 0.7965 | None | gnomAD-4.0.0 | 1.30192E-05 | |
24583 | 65 | L/I | 97 | None | 0.1143 | None | gnomAD-4.0.0 | 1.593E-06 | |
24586 | 68 | G/C | 100 | None | 0.2813 | None | gnomAD-4.0.0 | 6.84538E-07 | |
24586 | 68 | G/S | 100 | None | 0.2813 | None | gnomAD-4.0.0 | 6.84538E-07 | |
24587 | 69 | C/F | 102 | rs1326848733 | 0.2273 | None | gnomAD-3.1.2 | 6.57E-06 | |
24587 | 69 | C/F | 102 | rs1326848733 | 0.2273 | None | gnomAD-4.0.0 | 6.57307E-06 | |
24587 | 69 | C/R | 102 | rs776113871 | 0.2273 | None | gnomAD-2.1.1 | 1.61E-05 | |
24587 | 69 | C/R | 102 | rs776113871 | 0.2273 | None | gnomAD-4.0.0 | 4.1073E-06 | |
24587 | 69 | C/S | 102 | rs776113871 | 0.2273 | None | gnomAD-2.1.1 | 3.19E-05 | |
24587 | 69 | C/S | 102 | rs776113871 | 0.2273 | None | gnomAD-3.1.2 | 6.57E-06 | |
24587 | 69 | C/S | 102 | rs776113871 | 0.2273 | None | gnomAD-4.0.0 | 6.57289E-06 | |
24587 | 69 | C/Y | 102 | rs1326848733 | 0.2273 | None | gnomAD-4.0.0 | 6.84571E-07 | |
24589 | 71 | Y/C | 104 | rs368708895 | 0.0994 | None | gnomAD-2.1.1 | 4.03E-06 | |
24589 | 71 | Y/C | 104 | rs368708895 | 0.0994 | None | gnomAD-3.1.2 | 6.57E-06 | |
24589 | 71 | Y/C | 104 | rs368708895 | 0.0994 | None | gnomAD-4.0.0 | 4.34085E-06 | |
24589 | 71 | Y/H | 104 | rs371821218 | 0.0994 | None | gnomAD-2.1.1 | 2.5E-05 | |
24589 | 71 | Y/H | 104 | rs371821218 | 0.0994 | None | gnomAD-3.1.2 | 2.63E-05 | |
24589 | 71 | Y/H | 104 | rs371821218 | 0.0994 | None | gnomAD-4.0.0 | 1.73618E-05 | |
24591 | 73 | F/C | 106 | rs371513695 | 0.1153 | None | gnomAD-4.0.0 | 1.36951E-06 | |
24592 | 74 | R/K | 107 | rs1381595456 | 0.1933 | None | gnomAD-2.1.1 | 4.03E-06 | |
24592 | 74 | R/K | 107 | rs1381595456 | 0.1933 | None | gnomAD-4.0.0 | 6.84789E-07 | |
24593 | 75 | V/I | 108 | None | 0.0815 | None | gnomAD-4.0.0 | 1.59448E-06 | |
24595 | 77 | A/T | 110 | rs543275318 | 0.1019 | None | gnomAD-2.1.1 | 2.57988E-04 | |
24595 | 77 | A/T | 110 | rs543275318 | 0.1019 | None | gnomAD-3.1.2 | 1.38038E-04 | |
24595 | 77 | A/T | 110 | rs543275318 | 0.1019 | None | gnomAD-4.0.0 | 1.24085E-04 | |
24596 | 78 | E/A | 111 | None | 0.2676 | None | gnomAD-4.0.0 | 1.59586E-06 | |
24596 | 78 | E/K | 111 | rs758107705 | 0.2676 | None | gnomAD-4.0.0 | 2.74019E-06 | |
24599 | 81 | Y/H | 114 | rs754578013 | 0.5781 | None | gnomAD-2.1.1 | 3.19E-05 | |
24599 | 81 | Y/N | 114 | rs754578013 | 0.5781 | None | gnomAD-2.1.1 | 4.03E-06 | |
24599 | 81 | Y/N | 114 | rs754578013 | 0.5781 | None | gnomAD-4.0.0 | 1.59616E-06 | |
24601 | 83 | I/T | 117 | rs1021628897 | 0.4902 | None | gnomAD-2.1.1 | 3.19E-05 | |
24601 | 83 | I/T | 117 | rs1021628897 | 0.4902 | None | gnomAD-3.1.2 | 6.57E-06 | |
24601 | 83 | I/T | 117 | rs1021628897 | 0.4902 | None | gnomAD-4.0.0 | 1.86137E-06 | |
24601 | 83 | I/V | 117 | None | 0.4902 | None | gnomAD-4.0.0 | 6.85229E-07 | |
24602 | 84 | G/R | 118 | rs758124616 | 0.1476 | None | gnomAD-2.1.1 | 4.03E-06 | |
24602 | 84 | G/R | 118 | rs758124616 | 0.1476 | None | gnomAD-4.0.0 | 1.59648E-06 | |
24604 | 86 | P/S | 120 | None | 0.3732 | None | gnomAD-4.0.0 | 3.19777E-06 | |
24606 | 88 | E/Q | 122 | rs1466808448 | 0.3095 | None | gnomAD-2.1.1 | 3.19E-05 | |
24606 | 88 | E/Q | 122 | rs1466808448 | 0.3095 | None | gnomAD-3.1.2 | 6.57E-06 | |
24606 | 88 | E/Q | 122 | rs1466808448 | 0.3095 | None | gnomAD-4.0.0 | 6.57255E-06 | |
24607 | 89 | T/I | 123 | rs1286853195 | 0.1912 | None | gnomAD-3.1.2 | 6.57E-06 | |
24607 | 89 | T/I | 123 | rs1286853195 | 0.1912 | None | gnomAD-4.0.0 | 2.02998E-06 | |
24608 | 90 | A/T | 124 | rs750166986 | 0.7031 | None | gnomAD-2.1.1 | 1.43E-05 | |
24608 | 90 | A/T | 124 | rs750166986 | 0.7031 | None | gnomAD-3.1.2 | 3.95E-05 | |
24608 | 90 | A/T | 124 | rs750166986 | 0.7031 | None | gnomAD-4.0.0 | 1.55176E-05 | |
24609 | 91 | E/D | 125 | rs754097967 | 0.8593 | None | gnomAD-2.1.1 | 4.03E-06 | |
24609 | 91 | E/D | 125 | rs754097967 | 0.8593 | None | gnomAD-3.1.2 | 6.57E-06 | |
24609 | 91 | E/D | 125 | rs754097967 | 0.8593 | None | gnomAD-4.0.0 | 6.57376E-06 | |
24609 | 91 | E/K | 125 | rs55762754 | 0.8593 | None | gnomAD-2.1.1 | 8.07E-06 | |
24609 | 91 | E/K | 125 | rs55762754 | 0.8593 | None | gnomAD-3.1.2 | 6.57E-06 | |
24609 | 91 | E/K | 125 | rs55762754 | 0.8593 | None | gnomAD-4.0.0 | 1.86143E-06 | |
24609 | 91 | E/Q | 125 | rs55762754 | 0.8593 | None | gnomAD-2.1.1 | 3.33679E-03 | |
24609 | 91 | E/Q | 125 | rs55762754 | 0.8593 | None | gnomAD-3.1.2 | 3.02413E-03 | |
24609 | 91 | E/Q | 125 | rs55762754 | 0.8593 | None | 1000 genomes | 1.59744E-03 | |
24609 | 91 | E/Q | 125 | rs55762754 | 0.8593 | None | gnomAD-4.0.0 | 2.94478E-03 | |
24609 | 91 | E/V | 125 | None | 0.8593 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24610 | 92 | S/C | 126 | None | 0.2728 | None | gnomAD-4.0.0 | 1.59631E-06 | |
24610 | 92 | S/F | 126 | None | 0.2728 | None | gnomAD-4.0.0 | 1.59631E-06 | |
24611 | 93 | V/L | 127 | rs760865833 | 0.2038 | None | gnomAD-2.1.1 | 1.21E-05 | |
24611 | 93 | V/L | 127 | rs760865833 | 0.2038 | None | gnomAD-4.0.0 | 2.05521E-06 | |
24611 | 93 | V/M | 127 | None | 0.2038 | None | gnomAD-2.1.1 | 4.03E-06 | |
24611 | 93 | V/M | 127 | None | 0.2038 | None | gnomAD-4.0.0 | 1.37014E-06 | |
24612 | 94 | K/T | 129 | None | 0.2502 | None | gnomAD-4.0.0 | 1.59559E-06 | |
24613 | 95 | A/P | 130 | rs775856841 | 0.0833 | None | gnomAD-2.1.1 | 8.07E-06 | |
24613 | 95 | A/P | 130 | rs775856841 | 0.0833 | None | gnomAD-4.0.0 | 2.73989E-06 | |
24613 | 95 | A/T | 130 | rs775856841 | 0.0833 | None | gnomAD-4.0.0 | 2.05492E-06 | |
24614 | 96 | S/A | 131 | None | 0.1151 | None | gnomAD-4.0.0 | 2.05445E-06 | |
24614 | 96 | S/P | 131 | rs759970555 | 0.1151 | None | gnomAD-2.1.1 | 4.03E-06 | |
24614 | 96 | S/P | 131 | rs759970555 | 0.1151 | None | gnomAD-4.0.0 | 6.84817E-07 | |
24615 | 97 | E/K | 132 | rs374131909 | 0.3122 | None | gnomAD-2.1.1 | 3.19E-05 | |
24615 | 97 | E/K | 132 | rs374131909 | 0.3122 | None | gnomAD-3.1.2 | 6.58E-06 | |
24615 | 97 | E/K | 132 | rs374131909 | 0.3122 | None | gnomAD-4.0.0 | 6.57557E-06 | |
24615 | 97 | E/Q | 132 | rs374131909 | 0.3122 | None | gnomAD-2.1.1 | 4.03E-06 | |
24615 | 97 | E/Q | 132 | rs374131909 | 0.3122 | None | gnomAD-4.0.0 | 1.36952E-06 |