10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
K | P | S | Q | P | G | E | L | E | I | L | S | I | S | K | D | S | V | T | L | Q | W | E | K | P | E | C | D | G | G | K | E | I | L | G | Y | W | V | E | Y | R | Q | S | G | D | S | A | W | K | K | S | N | K | E | R | I | K | D | K | Q | F | T | I | G | G | L | L | E | A | T | E | Y | E | F | R | V | F | A | E | N | E | T | G | L | S | R | P | R | R | T | A | M | S | I | K | T | K | L |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
32998 | 1 | K/E | 1 | rs747243608 | 0.6920 | None | gnomAD-2.1.1 | 2.95E-05 | |
32998 | 1 | K/E | 1 | rs747243608 | 0.6920 | None | gnomAD-3.1.2 | 6.57E-05 | |
32998 | 1 | K/E | 1 | rs747243608 | 0.6920 | None | gnomAD-4.0.0 | 2.35186E-05 | |
33000 | 3 | S/R | 3 | None | 0.2014 | None | gnomAD-4.0.0 | 6.88325E-07 | |
33003 | 6 | G/E | 6 | rs775787996 | 0.1552 | None | gnomAD-2.1.1 | 4.08E-06 | |
33003 | 6 | G/E | 6 | rs775787996 | 0.1552 | None | gnomAD-4.0.0 | 1.37369E-06 | |
33004 | 7 | E/D | 7 | None | 0.5488 | None | gnomAD-4.0.0 | 1.20034E-06 | |
33004 | 7 | E/K | 7 | rs1430479262 | 0.5488 | None | gnomAD-2.1.1 | 4.08E-06 | |
33004 | 7 | E/K | 7 | rs1430479262 | 0.5488 | None | gnomAD-4.0.0 | 3.21006E-06 | |
33005 | 8 | L/F | 9 | rs1428961102 | 0.2259 | None | gnomAD-3.1.2 | 6.57E-06 | |
33005 | 8 | L/F | 9 | rs1428961102 | 0.2259 | None | gnomAD-4.0.0 | 2.03E-06 | |
33005 | 8 | L/P | 9 | rs1262695858 | 0.2259 | None | gnomAD-2.1.1 | 4.05E-06 | |
33005 | 8 | L/P | 9 | rs1262695858 | 0.2259 | None | gnomAD-3.1.2 | 6.57E-06 | |
33005 | 8 | L/P | 9 | rs1262695858 | 0.2259 | None | gnomAD-4.0.0 | 8.69426E-06 | |
33006 | 9 | E/K | 11 | rs201931674 | 0.5567 | None | gnomAD-2.1.1 | 1.22E-05 | |
33006 | 9 | E/K | 11 | rs201931674 | 0.5567 | None | gnomAD-3.1.2 | 6.57E-06 | |
33006 | 9 | E/K | 11 | rs201931674 | 0.5567 | None | gnomAD-4.0.0 | 1.11785E-05 | |
33007 | 10 | I/S | 12 | rs745893362 | 0.2748 | None | gnomAD-2.1.1 | 1.62E-05 | |
33007 | 10 | I/S | 12 | rs745893362 | 0.2748 | None | gnomAD-3.1.2 | 2.63E-05 | |
33007 | 10 | I/S | 12 | rs745893362 | 0.2748 | None | gnomAD-4.0.0 | 2.62684E-05 | |
33008 | 11 | L/F | 13 | rs771594208 | 0.4484 | None | gnomAD-4.0.0 | 2.74186E-06 | |
33010 | 13 | I/T | 15 | None | 0.3754 | None | gnomAD-4.0.0 | 1.59692E-06 | |
33010 | 13 | I/V | 15 | rs1419804652 | 0.3754 | None | gnomAD-3.1.2 | 6.57E-06 | |
33010 | 13 | I/V | 15 | rs1419804652 | 0.3754 | None | gnomAD-4.0.0 | 2.02987E-06 | |
33011 | 14 | S/T | 16 | rs78814506 | 0.2110 | None | gnomAD-2.1.1 | 8.76109E-04 | |
33011 | 14 | S/T | 16 | rs78814506 | 0.2110 | None | gnomAD-3.1.2 | 6.11376E-04 | |
33011 | 14 | S/T | 16 | rs78814506 | 0.2110 | None | 1000 genomes | 2.39617E-03 | |
33011 | 14 | S/T | 16 | rs78814506 | 0.2110 | None | gnomAD-4.0.0 | 3.37505E-04 | |
33012 | 15 | K/E | 17 | rs771511344 | 0.5230 | None | gnomAD-2.1.1 | 8.07E-06 | |
33012 | 15 | K/E | 17 | rs771511344 | 0.5230 | None | gnomAD-4.0.0 | 3.42439E-06 | |
33013 | 16 | D/G | 18 | rs749756106 | 0.3609 | None | gnomAD-2.1.1 | 4.04E-06 | |
33013 | 16 | D/H | 18 | rs1342105550 | 0.3609 | None | gnomAD-2.1.1 | 4.04E-06 | |
33013 | 16 | D/H | 18 | rs1342105550 | 0.3609 | None | gnomAD-4.0.0 | 1.59437E-06 | |
33013 | 16 | D/N | 18 | rs1342105550 | 0.3609 | None | gnomAD-3.1.2 | 6.57E-06 | |
33013 | 16 | D/N | 18 | rs1342105550 | 0.3609 | None | gnomAD-4.0.0 | 6.57203E-06 | |
33014 | 17 | S/T | 19 | None | 0.2495 | None | gnomAD-4.0.0 | 2.05314E-06 | |
33017 | 20 | L/Q | 22 | rs1300155629 | 0.1128 | None | gnomAD-2.1.1 | 4.02E-06 | |
33017 | 20 | L/Q | 22 | rs1300155629 | 0.1128 | None | gnomAD-4.0.0 | 4.77487E-06 | |
33017 | 20 | L/R | 22 | None | 0.1128 | None | gnomAD-4.0.0 | 1.59162E-06 | |
33018 | 21 | Q/E | 23 | rs1384790834 | 0.3943 | None | gnomAD-2.1.1 | 4.02E-06 | |
33018 | 21 | Q/E | 23 | rs1384790834 | 0.3943 | None | gnomAD-3.1.2 | 6.57E-06 | |
33018 | 21 | Q/E | 23 | rs1384790834 | 0.3943 | None | gnomAD-4.0.0 | 6.40668E-06 | |
33018 | 21 | Q/H | 23 | rs1347129449 | 0.3943 | None | gnomAD-2.1.1 | 4.02E-06 | |
33018 | 21 | Q/H | 23 | rs1347129449 | 0.3943 | None | gnomAD-4.0.0 | 1.59155E-06 | |
33019 | 22 | W/C | 24 | None | 0.1049 | None | gnomAD-4.0.0 | 1.20034E-06 | |
33020 | 23 | E/G | 25 | rs907499799 | 0.3953 | None | gnomAD-4.0.0 | 4.10551E-06 | |
33020 | 23 | E/K | 25 | rs751222141 | 0.3953 | None | gnomAD-2.1.1 | 8.04E-06 | |
33020 | 23 | E/K | 25 | rs751222141 | 0.3953 | None | gnomAD-3.1.2 | 1.97E-05 | |
33020 | 23 | E/K | 25 | rs751222141 | 0.3953 | None | gnomAD-4.0.0 | 2.60288E-05 | |
33020 | 23 | E/Q | 25 | None | 0.3953 | None | gnomAD-4.0.0 | 6.84262E-07 | |
33021 | 24 | K/R | 26 | rs749757136 | 0.7290 | None | gnomAD-2.1.1 | 4.02E-06 | |
33021 | 24 | K/R | 26 | rs749757136 | 0.7290 | None | gnomAD-3.1.2 | 6.57E-06 | |
33021 | 24 | K/R | 26 | rs749757136 | 0.7290 | None | gnomAD-4.0.0 | 2.54085E-05 | |
33022 | 25 | P/L | 27 | rs987137780 | 0.1834 | None | gnomAD-2.1.1 | 3.18E-05 | |
33022 | 25 | P/L | 27 | rs987137780 | 0.1834 | None | gnomAD-3.1.2 | 1.97E-05 | |
33022 | 25 | P/L | 27 | rs987137780 | 0.1834 | None | gnomAD-4.0.0 | 6.19783E-06 | |
33022 | 25 | P/T | 27 | rs779645034 | 0.1834 | None | gnomAD-2.1.1 | 4.02E-06 | |
33022 | 25 | P/T | 27 | rs779645034 | 0.1834 | None | gnomAD-3.1.2 | 6.58E-06 | |
33022 | 25 | P/T | 27 | rs779645034 | 0.1834 | None | gnomAD-4.0.0 | 1.23958E-06 | |
33023 | 26 | E/K | 28 | rs757929496 | 1.0207 | None | gnomAD-2.1.1 | 4.02E-06 | |
33023 | 26 | E/K | 28 | rs757929496 | 1.0207 | None | gnomAD-4.0.0 | 1.59144E-06 | |
33024 | 27 | C/G | 29 | rs200744054 | 0.4117 | None | gnomAD-4.0.0 | 1.20035E-06 | |
33024 | 27 | C/S | 29 | rs1692930141 | 0.4117 | None | gnomAD-3.1.2 | 6.57E-06 | |
33024 | 27 | C/S | 29 | rs1692930141 | 0.4117 | None | gnomAD-4.0.0 | 1.85918E-06 | |
33025 | 28 | D/N | 30 | rs878998371 | 0.2943 | None | gnomAD-2.1.1 | 4.02E-06 | |
33025 | 28 | D/N | 30 | rs878998371 | 0.2943 | None | gnomAD-3.1.2 | 2.63E-05 | |
33025 | 28 | D/N | 30 | rs878998371 | 0.2943 | None | gnomAD-4.0.0 | 4.58604E-05 | |
33025 | 28 | D/Y | 30 | rs878998371 | 0.2943 | None | gnomAD-4.0.0 | 3.42127E-06 | |
33026 | 29 | G/A | 31 | rs761864497 | 0.3354 | None | gnomAD-2.1.1 | 4.02E-06 | |
33026 | 29 | G/A | 31 | rs761864497 | 0.3354 | None | gnomAD-4.0.0 | 1.59146E-06 | |
33026 | 29 | G/R | 31 | rs548099841 | 0.3354 | None | gnomAD-2.1.1 | 4.02E-06 | |
33026 | 29 | G/R | 31 | rs548099841 | 0.3354 | None | gnomAD-3.1.2 | 6.57E-06 | |
33026 | 29 | G/R | 31 | rs548099841 | 0.3354 | None | 1000 genomes | 1.99681E-04 | |
33026 | 29 | G/R | 31 | rs548099841 | 0.3354 | None | gnomAD-4.0.0 | 6.56694E-06 | |
33026 | 29 | G/S | 31 | rs548099841 | 0.3354 | None | gnomAD-4.0.0 | 1.59144E-06 | |
33027 | 30 | G/A | 32 | None | 0.5063 | None | gnomAD-4.0.0 | 1.5914E-06 | |
33027 | 30 | G/D | 32 | rs1060500594 | 0.5063 | None | gnomAD-4.0.0 | 6.36562E-06 | |
33027 | 30 | G/S | 32 | rs753657854 | 0.5063 | None | gnomAD-2.1.1 | 1.61E-05 | |
33027 | 30 | G/S | 32 | rs753657854 | 0.5063 | None | gnomAD-4.0.0 | 9.54879E-06 | |
33028 | 31 | K/Q | 33 | None | 0.3727 | None | gnomAD-4.0.0 | 1.59141E-06 | |
33029 | 32 | E/K | 34 | rs1431873084 | 0.8073 | None | gnomAD-2.1.1 | 4.02E-06 | |
33029 | 32 | E/K | 34 | rs1431873084 | 0.8073 | None | gnomAD-4.0.0 | 1.59141E-06 | |
33031 | 34 | L/I | 36 | None | 0.5023 | None | gnomAD-4.0.0 | 1.59141E-06 | |
33032 | 35 | G/E | 37 | rs1247520055 | 0.1490 | None | gnomAD-2.1.1 | 3.19E-05 | |
33032 | 35 | G/E | 37 | rs1247520055 | 0.1490 | None | gnomAD-3.1.2 | 6.57E-06 | |
33032 | 35 | G/E | 37 | rs1247520055 | 0.1490 | None | gnomAD-4.0.0 | 6.57358E-06 | |
33033 | 36 | Y/H | 38 | None | 0.1487 | None | gnomAD-4.0.0 | 1.20033E-06 | |
33034 | 37 | W/C | 39 | rs397517778 | 0.2655 | None | gnomAD-2.1.1 | 2.42518E-04 | |
33034 | 37 | W/C | 39 | rs397517778 | 0.2655 | None | gnomAD-3.1.2 | 7.89E-05 | |
33034 | 37 | W/C | 39 | rs397517778 | 0.2655 | None | 1000 genomes | 1.19808E-03 | |
33034 | 37 | W/C | 39 | rs397517778 | 0.2655 | None | gnomAD-4.0.0 | 6.07289E-05 | |
33034 | 37 | W/R | 39 | None | 0.2655 | None | gnomAD-4.0.0 | 1.20034E-06 | |
33034 | 37 | W/S | 39 | rs786205365 | 0.2655 | None | gnomAD-4.0.0 | 2.7369E-06 | |
33036 | 39 | E/K | 41 | None | 0.1216 | None | gnomAD-4.0.0 | 1.59136E-06 | |
33037 | 40 | Y/C | 42 | rs1692914816 | 0.2623 | None | gnomAD-3.1.2 | 6.57E-06 | |
33037 | 40 | Y/C | 42 | rs1692914816 | 0.2623 | None | gnomAD-4.0.0 | 3.09847E-06 | |
33037 | 40 | Y/H | 42 | None | 0.2623 | None | gnomAD-4.0.0 | 3.18263E-06 | |
33038 | 41 | R/I | 43 | None | 0.1420 | None | gnomAD-4.0.0 | 1.20034E-06 | |
33039 | 42 | Q/E | 44 | rs775875875 | 0.3551 | None | gnomAD-2.1.1 | 1.07E-05 | |
33039 | 42 | Q/E | 44 | rs775875875 | 0.3551 | None | gnomAD-3.1.2 | 1.97E-05 | |
33039 | 42 | Q/E | 44 | rs775875875 | 0.3551 | None | gnomAD-4.0.0 | 8.67606E-06 | |
33039 | 42 | Q/H | 44 | None | 0.3551 | None | gnomAD-4.0.0 | 6.84217E-07 | |
33040 | 43 | S/A | 50 | None | 0.3949 | None | gnomAD-4.0.0 | 6.84212E-07 | |
33040 | 43 | S/P | 50 | rs772469694 | 0.3949 | None | gnomAD-2.1.1 | 4.02E-06 | |
33040 | 43 | S/P | 50 | rs772469694 | 0.3949 | None | gnomAD-3.1.2 | 6.58E-06 | |
33040 | 43 | S/P | 50 | rs772469694 | 0.3949 | None | gnomAD-4.0.0 | 3.71841E-06 | |
33040 | 43 | S/T | 50 | rs772469694 | 0.3949 | None | gnomAD-2.1.1 | 4.02E-06 | |
33040 | 43 | S/T | 50 | rs772469694 | 0.3949 | None | gnomAD-4.0.0 | 6.84212E-07 | |
33042 | 45 | D/N | 62 | None | 0.3976 | None | gnomAD-4.0.0 | 4.77398E-06 | |
33043 | 46 | S/G | 63 | None | 0.8287 | None | gnomAD-4.0.0 | 2.73688E-06 | |
33044 | 47 | A/G | 64 | None | 0.4449 | None | gnomAD-4.0.0 | 1.59144E-06 | |
33044 | 47 | A/V | 64 | rs548242100 | 0.4449 | None | gnomAD-2.1.1 | 1.21E-05 | |
33044 | 47 | A/V | 64 | rs548242100 | 0.4449 | None | gnomAD-3.1.2 | 6.58E-06 | |
33044 | 47 | A/V | 64 | rs548242100 | 0.4449 | None | 1000 genomes | 1.99681E-04 | |
33044 | 47 | A/V | 64 | rs548242100 | 0.4449 | None | gnomAD-4.0.0 | 3.84377E-06 | |
33045 | 48 | W/G | 65 | rs770903683 | 0.2272 | None | gnomAD-2.1.1 | 4.02E-06 | |
33045 | 48 | W/G | 65 | rs770903683 | 0.2272 | None | gnomAD-4.0.0 | 1.59134E-06 | |
33045 | 48 | W/L | 65 | rs1235163894 | 0.2272 | None | gnomAD-4.0.0 | 1.59134E-06 | |
33045 | 48 | W/R | 65 | rs770903683 | 0.2272 | None | gnomAD-2.1.1 | 4.02E-06 | |
33046 | 49 | K/N | 66 | rs778078915 | 0.3853 | None | gnomAD-2.1.1 | 4.02E-06 | |
33046 | 49 | K/N | 66 | rs778078915 | 0.3853 | None | gnomAD-4.0.0 | 1.59134E-06 | |
33046 | 49 | K/R | 66 | rs749815808 | 0.3853 | None | gnomAD-4.0.0 | 2.05265E-06 | |
33046 | 49 | K/T | 66 | None | 0.3853 | None | gnomAD-4.0.0 | 6.84216E-07 | |
33047 | 50 | K/E | 67 | None | 0.4673 | None | gnomAD-4.0.0 | 1.59131E-06 | |
33047 | 50 | K/N | 67 | None | 0.4673 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33048 | 51 | S/G | 68 | rs1330792517 | 0.2141 | None | gnomAD-2.1.1 | 4.02E-06 | |
33048 | 51 | S/G | 68 | rs1330792517 | 0.2141 | None | gnomAD-4.0.0 | 3.18265E-06 | |
33049 | 52 | N/K | 69 | None | 0.1448 | None | gnomAD-4.0.0 | 1.59133E-06 | |
33049 | 52 | N/S | 69 | rs1692887822 | 0.1448 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33050 | 53 | K/M | 70 | rs780650379 | 1.0257 | None | gnomAD-4.0.0 | 4.7896E-06 | |
33050 | 53 | K/N | 70 | None | 1.0257 | None | gnomAD-4.0.0 | 3.60099E-06 | |
33051 | 54 | E/K | 72 | rs144319649 | 0.8212 | None | gnomAD-2.1.1 | 2.81E-05 | |
33051 | 54 | E/K | 72 | rs144319649 | 0.8212 | None | gnomAD-3.1.2 | 1.97E-05 | |
33051 | 54 | E/K | 72 | rs144319649 | 0.8212 | None | 1000 genomes | 1.99681E-04 | |
33051 | 54 | E/K | 72 | rs144319649 | 0.8212 | None | gnomAD-4.0.0 | 1.54916E-05 | |
33052 | 55 | R/C | 75 | rs758109676 | 0.6506 | None | gnomAD-2.1.1 | 3.21E-05 | |
33052 | 55 | R/C | 75 | rs758109676 | 0.6506 | None | gnomAD-3.1.2 | 1.32E-05 | |
33052 | 55 | R/C | 75 | rs758109676 | 0.6506 | None | gnomAD-4.0.0 | 2.72693E-05 | |
33052 | 55 | R/H | 75 | rs72648276 | 0.6506 | None | gnomAD-2.1.1 | 4.64E-05 | |
33052 | 55 | R/H | 75 | rs72648276 | 0.6506 | None | gnomAD-3.1.2 | 1.97E-05 | |
33052 | 55 | R/H | 75 | rs72648276 | 0.6506 | None | gnomAD-4.0.0 | 1.92113E-05 | |
33052 | 55 | R/P | 75 | rs72648276 | 0.6506 | None | gnomAD-2.1.1 | 4.02E-06 | |
33052 | 55 | R/P | 75 | rs72648276 | 0.6506 | None | gnomAD-3.1.2 | 6.57E-06 | |
33052 | 55 | R/P | 75 | rs72648276 | 0.6506 | None | gnomAD-4.0.0 | 3.0986E-06 | |
33052 | 55 | R/S | 75 | None | 0.6506 | None | gnomAD-4.0.0 | 6.84235E-07 | |
33053 | 56 | I/N | 77 | None | 0.1656 | None | gnomAD-4.0.0 | 6.84222E-07 | |
33053 | 56 | I/T | 77 | rs1692880660 | 0.1656 | None | gnomAD-3.1.2 | 6.58E-06 | |
33053 | 56 | I/T | 77 | rs1692880660 | 0.1656 | None | gnomAD-4.0.0 | 1.23948E-06 | |
33054 | 57 | K/Q | 83 | rs1553507202 | 0.9406 | None | gnomAD-3.1.2 | 6.57E-06 | |
33054 | 57 | K/Q | 83 | rs1553507202 | 0.9406 | None | gnomAD-4.0.0 | 6.5722E-06 | |
33056 | 59 | K/N | 89 | rs1692876127 | 0.2708 | None | gnomAD-3.1.2 | 6.57E-06 | |
33056 | 59 | K/N | 89 | rs1692876127 | 0.2708 | None | gnomAD-4.0.0 | 6.57341E-06 | |
33057 | 60 | Q/H | 90 | None | 0.4725 | None | gnomAD-4.0.0 | 1.36844E-06 | |
33057 | 60 | Q/K | 90 | rs756651625 | 0.4725 | None | gnomAD-2.1.1 | 4.02E-06 | |
33057 | 60 | Q/K | 90 | rs756651625 | 0.4725 | None | gnomAD-4.0.0 | 7.95661E-06 | |
33057 | 60 | Q/P | 90 | rs1177530238 | 0.4725 | None | gnomAD-2.1.1 | 4.02E-06 | |
33057 | 60 | Q/P | 90 | rs1177530238 | 0.4725 | None | gnomAD-4.0.0 | 3.18261E-06 | |
33059 | 62 | T/I | 92 | rs1038769207 | 0.3781 | None | gnomAD-2.1.1 | 8.03E-06 | |
33059 | 62 | T/I | 92 | rs1038769207 | 0.3781 | None | gnomAD-3.1.2 | 6.58E-06 | |
33059 | 62 | T/I | 92 | rs1038769207 | 0.3781 | None | gnomAD-4.0.0 | 3.84376E-06 | |
33060 | 63 | I/K | 93 | None | 0.0923 | None | gnomAD-4.0.0 | 6.84226E-07 | |
33060 | 63 | I/L | 93 | rs142108986 | 0.0923 | None | gnomAD-2.1.1 | 1.78E-05 | |
33060 | 63 | I/L | 93 | rs142108986 | 0.0923 | None | gnomAD-3.1.2 | 5.26E-05 | |
33060 | 63 | I/L | 93 | rs142108986 | 0.0923 | None | 1000 genomes | 1.99681E-04 | |
33060 | 63 | I/L | 93 | rs142108986 | 0.0923 | None | gnomAD-4.0.0 | 1.17735E-05 | |
33060 | 63 | I/R | 93 | rs763888823 | 0.0923 | None | gnomAD-3.1.2 | 6.58E-06 | |
33060 | 63 | I/R | 93 | rs763888823 | 0.0923 | None | gnomAD-4.0.0 | 6.57739E-06 | |
33060 | 63 | I/T | 93 | rs763888823 | 0.0923 | None | gnomAD-4.0.0 | 2.7369E-06 | |
33060 | 63 | I/V | 93 | None | 0.0923 | None | gnomAD-4.0.0 | 6.84219E-07 | |
33061 | 64 | G/E | 94 | rs760665075 | 0.3842 | None | gnomAD-4.0.0 | 2.05264E-06 | |
33061 | 64 | G/R | 94 | rs2154139241 | 0.3842 | None | gnomAD-4.0.0 | 1.59127E-06 | |
33061 | 64 | G/V | 94 | rs760665075 | 0.3842 | None | gnomAD-3.1.2 | 6.57E-06 | |
33061 | 64 | G/V | 94 | rs760665075 | 0.3842 | None | gnomAD-4.0.0 | 1.23939E-06 | |
33062 | 65 | G/A | 96 | None | 0.5720 | None | gnomAD-4.0.0 | 9.60271E-06 | |
33069 | 72 | Y/C | 104 | rs377399232 | 0.0827 | None | gnomAD-2.1.1 | 4.02E-06 | |
33069 | 72 | Y/C | 104 | rs377399232 | 0.0827 | None | gnomAD-3.1.2 | 6.57E-06 | |
33069 | 72 | Y/C | 104 | rs377399232 | 0.0827 | None | gnomAD-4.0.0 | 6.57065E-06 | |
33069 | 72 | Y/N | 104 | rs752578821 | 0.0827 | None | gnomAD-2.1.1 | 4.02E-06 | |
33069 | 72 | Y/N | 104 | rs752578821 | 0.0827 | None | gnomAD-4.0.0 | 3.18296E-06 | |
33070 | 73 | E/Q | 105 | rs1263382518 | 0.1829 | None | gnomAD-2.1.1 | 4.02E-06 | |
33072 | 75 | R/G | 107 | rs1461001507 | 0.0972 | None | gnomAD-3.1.2 | 6.57E-06 | |
33072 | 75 | R/G | 107 | rs1461001507 | 0.0972 | None | gnomAD-4.0.0 | 6.5703E-06 | |
33073 | 76 | V/A | 108 | None | 0.0792 | None | gnomAD-4.0.0 | 3.18287E-06 | |
33074 | 77 | F/L | 109 | rs1692851858 | 0.1232 | None | gnomAD-4.0.0 | 1.59164E-06 | |
33074 | 77 | F/S | 109 | rs1328730203 | 0.1232 | None | gnomAD-3.1.2 | 1.31E-05 | |
33074 | 77 | F/S | 109 | rs1328730203 | 0.1232 | None | gnomAD-4.0.0 | 2.47887E-06 | |
33075 | 78 | A/V | 110 | rs373447560 | 0.1040 | None | gnomAD-2.1.1 | 1.21E-05 | |
33075 | 78 | A/V | 110 | rs373447560 | 0.1040 | None | gnomAD-3.1.2 | 1.31E-05 | |
33075 | 78 | A/V | 110 | rs373447560 | 0.1040 | None | gnomAD-4.0.0 | 8.67659E-06 | |
33076 | 79 | E/D | 111 | rs1304767671 | 0.2776 | None | gnomAD-2.1.1 | 3.18E-05 | |
33076 | 79 | E/D | 111 | rs1304767671 | 0.2776 | None | gnomAD-3.1.2 | 1.31E-05 | |
33076 | 79 | E/D | 111 | rs1304767671 | 0.2776 | None | gnomAD-4.0.0 | 9.13418E-06 | |
33076 | 79 | E/K | 111 | rs1281110554 | 0.2776 | None | gnomAD-2.1.1 | 4.02E-06 | |
33076 | 79 | E/K | 111 | rs1281110554 | 0.2776 | None | gnomAD-3.1.2 | 6.57E-06 | |
33076 | 79 | E/K | 111 | rs1281110554 | 0.2776 | None | gnomAD-4.0.0 | 2.56247E-06 | |
33078 | 81 | E/K | 113 | rs771047688 | 0.6482 | None | gnomAD-2.1.1 | 4.02E-06 | |
33078 | 81 | E/K | 113 | rs771047688 | 0.6482 | None | gnomAD-4.0.0 | 1.59165E-06 | |
33079 | 82 | T/A | 114 | rs1442558441 | 0.6426 | None | gnomAD-3.1.2 | 6.57E-06 | |
33079 | 82 | T/A | 114 | rs1442558441 | 0.6426 | None | gnomAD-4.0.0 | 2.5627E-06 | |
33080 | 83 | G/E | 115 | rs762905152 | 0.1996 | None | gnomAD-2.1.1 | 7.65E-05 | |
33080 | 83 | G/E | 115 | rs762905152 | 0.1996 | None | gnomAD-3.1.2 | 1.31E-05 | |
33080 | 83 | G/E | 115 | rs762905152 | 0.1996 | None | gnomAD-4.0.0 | 4.33856E-05 | |
33081 | 84 | L/R | 116 | rs773795503 | 0.3503 | None | gnomAD-2.1.1 | 4.03E-06 | |
33081 | 84 | L/R | 116 | rs773795503 | 0.3503 | None | gnomAD-4.0.0 | 1.5918E-06 | |
33084 | 87 | P/L | 120 | None | 0.1855 | None | gnomAD-4.0.0 | 1.59212E-06 | |
33085 | 88 | R/C | 121 | rs748626206 | 0.1557 | None | gnomAD-2.1.1 | 1.21E-05 | |
33085 | 88 | R/C | 121 | rs748626206 | 0.1557 | None | gnomAD-4.0.0 | 1.16347E-05 | |
33085 | 88 | R/H | 121 | rs777035261 | 0.1557 | None | gnomAD-2.1.1 | 4.3E-05 | |
33085 | 88 | R/H | 121 | rs777035261 | 0.1557 | None | gnomAD-3.1.2 | 2.63E-05 | |
33085 | 88 | R/H | 121 | rs777035261 | 0.1557 | None | gnomAD-4.0.0 | 7.50092E-05 | |
33086 | 89 | R/S | 122 | None | 0.3798 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33088 | 91 | A/G | 124 | rs745535102 | 0.7966 | None | gnomAD-2.1.1 | 4.04E-06 | |
33088 | 91 | A/G | 124 | rs745535102 | 0.7966 | None | gnomAD-3.1.2 | 6.57E-06 | |
33088 | 91 | A/G | 124 | rs745535102 | 0.7966 | None | gnomAD-4.0.0 | 5.58015E-06 | |
33089 | 92 | M/I | 125 | None | 0.7882 | None | gnomAD-4.0.0 | 1.59438E-06 | |
33089 | 92 | M/T | 125 | rs1445903275 | 0.7882 | None | gnomAD-2.1.1 | 4.05E-06 | |
33089 | 92 | M/T | 125 | rs1445903275 | 0.7882 | None | gnomAD-4.0.0 | 1.59358E-06 | |
33089 | 92 | M/V | 125 | rs1181148072 | 0.7882 | None | gnomAD-2.1.1 | 4.04E-06 | |
33089 | 92 | M/V | 125 | rs1181148072 | 0.7882 | None | gnomAD-4.0.0 | 4.78004E-06 | |
33090 | 93 | S/C | 126 | None | 0.3357 | None | gnomAD-4.0.0 | 6.84784E-07 | |
33091 | 94 | I/L | 127 | rs879450752 | 0.1712 | None | gnomAD-3.1.2 | 6.57E-06 | |
33091 | 94 | I/L | 127 | rs879450752 | 0.1712 | None | gnomAD-4.0.0 | 4.96205E-06 | |
33091 | 94 | I/M | 127 | rs746305727 | 0.1712 | None | gnomAD-4.0.0 | 1.23297E-05 | |
33091 | 94 | I/R | 127 | None | 0.1712 | None | gnomAD-4.0.0 | 1.59537E-06 | |
33091 | 94 | I/V | 127 | rs879450752 | 0.1712 | None | gnomAD-4.0.0 | 6.84925E-07 | |
33092 | 95 | K/N | 129 | rs778385575 | 0.3721 | None | gnomAD-2.1.1 | 4.08E-06 | |
33092 | 95 | K/N | 129 | rs778385575 | 0.3721 | None | gnomAD-4.0.0 | 1.59867E-06 | |
33092 | 95 | K/Q | 129 | None | 0.3721 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33093 | 96 | T/A | 130 | rs748796464 | 0.0828 | None | gnomAD-2.1.1 | 1.22E-05 | |
33093 | 96 | T/A | 130 | rs748796464 | 0.0828 | None | gnomAD-4.0.0 | 4.79987E-06 | |
33093 | 96 | T/S | 130 | rs748796464 | 0.0828 | None | gnomAD-2.1.1 | 4.09E-06 | |
33093 | 96 | T/S | 130 | rs748796464 | 0.0828 | None | gnomAD-4.0.0 | 3.42848E-06 |