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H | G | D | L | V | T | I | R | A | G | S | D | L | V | L | D | A | A | V | G | G | K | P | E | P | K | I | I | W | T | K | G | D | K | E | L | D | L | C | E | K | V | S | L | Q | Y | T | G | K | R | A | T | A | V | I | K | F | C | D | R | S | D | S | G | K | Y | T | L | T | V | K | N | A | S | G | T | K | A | V | S | V | M | V | K | V | L | D | S | P | G | P | C | G | K | L | T | V | S | R | V | T | Q | E | K | C | T | L | A | W | S | L | P | Q | E | D | G | G | A | E | I | T | H | Y | I | V | E | R | R | E | T | S | R | L | N | W | V | I | V | E | G | E | C | P | T | L | S | Y | V | V | T | R | L | I | K | N | N | E | Y | I | F | R | V | R | A | V | N | K | Y | G | P | G | V | P | V | E | S | E | P | I | V | A | R | N | S |
H | G | D | L | V | T | I | R | A | G | S | D | L | V | L | D | A | A | V | G | G | K | P | E | P | K | I | I | W | T | K | G | D | K | E | L | D | L | C | E | K | V | S | L | Q | Y | T | G | K | R | A | T | A | V | I | K | F | C | D | R | S | D | S | G | K | Y | T | L | T | V | K | N | A | S | G | T | K | A | V | S | V | M | V | K | V | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
31622 | 2 | G/D | 8 | None | 0.5965 | None | gnomAD-4.0.0 | 1.59229E-06 | |
31622 | 2 | G/S | 8 | rs1385680314 | 0.5965 | None | gnomAD-4.0.0 | 2.05357E-06 | |
31623 | 3 | D/G | 9 | None | 1.1567 | None | gnomAD-4.0.0 | 6.84334E-07 | |
31625 | 5 | V/I | 13 | rs1697179878 | 0.4011 | None | gnomAD-3.1.2 | 6.57E-06 | |
31625 | 5 | V/I | 13 | rs1697179878 | 0.4011 | None | gnomAD-4.0.0 | 6.57358E-06 | |
31626 | 6 | T/I | 14 | rs542160074 | 0.5732 | None | gnomAD-2.1.1 | 1.62E-05 | |
31626 | 6 | T/I | 14 | rs542160074 | 0.5732 | None | gnomAD-3.1.2 | 6.57E-06 | |
31626 | 6 | T/I | 14 | rs542160074 | 0.5732 | None | gnomAD-4.0.0 | 7.68819E-06 | |
31626 | 6 | T/N | 14 | rs542160074 | 0.5732 | None | gnomAD-2.1.1 | 4.04E-06 | |
31626 | 6 | T/N | 14 | rs542160074 | 0.5732 | None | gnomAD-3.1.2 | 6.57E-06 | |
31626 | 6 | T/N | 14 | rs542160074 | 0.5732 | None | 1000 genomes | 1.99681E-04 | |
31626 | 6 | T/N | 14 | rs542160074 | 0.5732 | None | gnomAD-4.0.0 | 6.56737E-06 | |
31627 | 7 | I/L | 16 | None | 0.1729 | None | gnomAD-4.0.0 | 1.59161E-06 | |
31627 | 7 | I/M | 16 | None | 0.1729 | None | gnomAD-4.0.0 | 1.36855E-06 | |
31627 | 7 | I/T | 16 | rs751714990 | 0.1729 | None | gnomAD-2.1.1 | 2.02E-05 | |
31627 | 7 | I/T | 16 | rs751714990 | 0.1729 | None | gnomAD-3.1.2 | 1.97E-05 | |
31627 | 7 | I/T | 16 | rs751714990 | 0.1729 | None | gnomAD-4.0.0 | 3.2227E-05 | |
31628 | 8 | R/K | 18 | rs1697174649 | 0.5459 | None | gnomAD-4.0.0 | 1.59161E-06 | |
31629 | 9 | A/T | 23 | rs758521497 | 0.2366 | None | gnomAD-2.1.1 | 2.51E-05 | |
31629 | 9 | A/T | 23 | rs758521497 | 0.2366 | None | gnomAD-3.1.2 | 2.63E-05 | |
31629 | 9 | A/T | 23 | rs758521497 | 0.2366 | None | gnomAD-4.0.0 | 6.81714E-06 | |
31630 | 10 | G/D | 24 | rs576480657 | 0.3129 | None | gnomAD-2.1.1 | 4.03E-06 | |
31630 | 10 | G/D | 24 | rs576480657 | 0.3129 | None | gnomAD-3.1.2 | 6.57E-06 | |
31630 | 10 | G/D | 24 | rs576480657 | 0.3129 | None | 1000 genomes | 1.99681E-04 | |
31630 | 10 | G/D | 24 | rs576480657 | 0.3129 | None | gnomAD-4.0.0 | 6.56754E-06 | |
31630 | 10 | G/R | 24 | rs1697172805 | 0.3129 | None | gnomAD-4.0.0 | 1.59151E-06 | |
31631 | 11 | S/F | 25 | rs765646839 | 0.2578 | None | gnomAD-2.1.1 | 4.03E-06 | |
31631 | 11 | S/F | 25 | rs765646839 | 0.2578 | None | gnomAD-4.0.0 | 3.18303E-06 | |
31632 | 12 | D/A | 26 | None | 0.3989 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31634 | 14 | V/G | 29 | rs1697167076 | 0.5159 | None | gnomAD-4.0.0 | 2.05272E-06 | |
31634 | 14 | V/L | 29 | rs762250254 | 0.5159 | None | gnomAD-2.1.1 | 4.03E-06 | |
31634 | 14 | V/L | 29 | rs762250254 | 0.5159 | None | gnomAD-4.0.0 | 1.59143E-06 | |
31636 | 16 | D/G | 31 | rs767187943 | 0.4405 | None | gnomAD-2.1.1 | 8.06E-06 | |
31636 | 16 | D/G | 31 | rs767187943 | 0.4405 | None | gnomAD-3.1.2 | 1.31E-05 | |
31636 | 16 | D/G | 31 | rs767187943 | 0.4405 | None | gnomAD-4.0.0 | 3.71834E-06 | |
31636 | 16 | D/N | 31 | rs776793953 | 0.4405 | None | gnomAD-2.1.1 | 1.65199E-04 | |
31636 | 16 | D/N | 31 | rs776793953 | 0.4405 | None | gnomAD-3.1.2 | 1.97E-05 | |
31636 | 16 | D/N | 31 | rs776793953 | 0.4405 | None | gnomAD-4.0.0 | 7.49812E-05 | |
31637 | 17 | A/P | 33 | rs1238019151 | 0.2051 | None | gnomAD-3.1.2 | 6.57E-06 | |
31637 | 17 | A/P | 33 | rs1238019151 | 0.2051 | None | gnomAD-4.0.0 | 6.57341E-06 | |
31637 | 17 | A/V | 33 | rs1384723170 | 0.2051 | None | gnomAD-2.1.1 | 3.19E-05 | |
31637 | 17 | A/V | 33 | rs1384723170 | 0.2051 | None | gnomAD-3.1.2 | 2.63E-05 | |
31637 | 17 | A/V | 33 | rs1384723170 | 0.2051 | None | gnomAD-4.0.0 | 7.43667E-06 | |
31638 | 18 | A/V | 34 | rs1194896401 | 0.6259 | None | gnomAD-2.1.1 | 1.21E-05 | |
31638 | 18 | A/V | 34 | rs1194896401 | 0.6259 | None | gnomAD-4.0.0 | 6.84227E-06 | |
31639 | 19 | V/A | 35 | rs759136839 | 0.2008 | None | gnomAD-2.1.1 | 4.03E-06 | |
31639 | 19 | V/A | 35 | rs759136839 | 0.2008 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31640 | 20 | G/C | 38 | rs773967663 | 0.5400 | None | gnomAD-2.1.1 | 4.03E-06 | |
31640 | 20 | G/C | 38 | rs773967663 | 0.5400 | None | gnomAD-4.0.0 | 6.84222E-07 | |
31640 | 20 | G/D | 38 | rs1697151144 | 0.5400 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31640 | 20 | G/R | 38 | rs773967663 | 0.5400 | None | gnomAD-4.0.0 | 1.36844E-06 | |
31640 | 20 | G/S | 38 | None | 0.5400 | None | gnomAD-2.1.1 | 8.06E-06 | |
31640 | 20 | G/S | 38 | None | 0.5400 | None | gnomAD-4.0.0 | 6.158E-06 | |
31640 | 20 | G/V | 38 | rs1697151144 | 0.5400 | None | gnomAD-3.1.2 | 6.57E-06 | |
31640 | 20 | G/V | 38 | rs1697151144 | 0.5400 | None | gnomAD-4.0.0 | 6.57445E-06 | |
31641 | 21 | G/S | 40 | None | 0.4030 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31642 | 22 | K/R | 41 | None | 0.9019 | None | gnomAD-4.0.0 | 1.36843E-06 | |
31644 | 24 | E/D | 43 | rs1281349835 | 0.7467 | None | gnomAD-2.1.1 | 8.05E-06 | |
31644 | 24 | E/D | 43 | rs1281349835 | 0.7467 | None | gnomAD-3.1.2 | 6.57E-06 | |
31644 | 24 | E/D | 43 | rs1281349835 | 0.7467 | None | gnomAD-4.0.0 | 1.85912E-05 | |
31644 | 24 | E/K | 43 | rs958594083 | 0.7467 | None | gnomAD-2.1.1 | 1.79E-05 | |
31644 | 24 | E/K | 43 | rs958594083 | 0.7467 | None | gnomAD-3.1.2 | 3.95E-05 | |
31644 | 24 | E/K | 43 | rs958594083 | 0.7467 | None | gnomAD-4.0.0 | 2.04513E-05 | |
31645 | 25 | P/A | 44 | None | 0.1880 | None | gnomAD-4.0.0 | 6.84223E-07 | |
31645 | 25 | P/H | 44 | rs1347498882 | 0.1880 | None | gnomAD-2.1.1 | 4.02E-06 | |
31645 | 25 | P/H | 44 | rs1347498882 | 0.1880 | None | gnomAD-4.0.0 | 4.77404E-06 | |
31645 | 25 | P/L | 44 | None | 0.1880 | None | gnomAD-4.0.0 | 1.59135E-06 | |
31645 | 25 | P/S | 44 | rs770465865 | 0.1880 | None | gnomAD-2.1.1 | 1.61E-05 | |
31645 | 25 | P/S | 44 | rs770465865 | 0.1880 | None | gnomAD-4.0.0 | 8.21067E-06 | |
31645 | 25 | P/T | 44 | rs770465865 | 0.1880 | None | gnomAD-2.1.1 | 4.03E-06 | |
31645 | 25 | P/T | 44 | rs770465865 | 0.1880 | None | gnomAD-4.0.0 | 6.84223E-07 | |
31646 | 26 | K/T | 45 | None | 0.5483 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31648 | 28 | I/F | 47 | rs1409620740 | 0.2768 | None | gnomAD-2.1.1 | 4.02E-06 | |
31648 | 28 | I/F | 47 | rs1409620740 | 0.2768 | None | gnomAD-4.0.0 | 1.59127E-06 | |
31648 | 28 | I/V | 47 | None | 0.2768 | None | gnomAD-4.0.0 | 1.59127E-06 | |
31649 | 29 | W/C | 48 | None | 0.1493 | None | gnomAD-4.0.0 | 6.84214E-07 | |
31649 | 29 | W/R | 48 | rs1697138621 | 0.1493 | None | gnomAD-3.1.2 | 6.57E-06 | |
31649 | 29 | W/R | 48 | rs1697138621 | 0.1493 | None | gnomAD-4.0.0 | 6.57341E-06 | |
31651 | 31 | K/N | 50 | rs188002699 | 0.2108 | None | gnomAD-3.1.2 | 6.57E-06 | |
31651 | 31 | K/N | 50 | rs188002699 | 0.2108 | None | 1000 genomes | 1.99681E-04 | |
31651 | 31 | K/N | 50 | rs188002699 | 0.2108 | None | gnomAD-4.0.0 | 6.5697E-06 | |
31652 | 32 | G/R | 51 | None | 0.3186 | None | gnomAD-4.0.0 | 1.59128E-06 | |
31653 | 33 | D/E | 52 | rs546302731 | 1.1502 | None | gnomAD-2.1.1 | 1.61E-05 | |
31653 | 33 | D/E | 52 | rs546302731 | 1.1502 | None | gnomAD-4.0.0 | 4.78951E-06 | |
31653 | 33 | D/N | 52 | rs1697134588 | 1.1502 | None | gnomAD-3.1.2 | 6.57E-06 | |
31653 | 33 | D/N | 52 | rs1697134588 | 1.1502 | None | gnomAD-4.0.0 | 2.5623E-06 | |
31654 | 34 | K/E | 55 | None | 0.5680 | None | gnomAD-4.0.0 | 1.59128E-06 | |
31654 | 34 | K/N | 55 | None | 0.5680 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31655 | 35 | E/A | 56 | None | 0.5305 | None | gnomAD-4.0.0 | 3.18252E-06 | |
31655 | 35 | E/D | 56 | rs769555143 | 0.5305 | None | gnomAD-2.1.1 | 4.02E-06 | |
31655 | 35 | E/D | 56 | rs769555143 | 0.5305 | None | gnomAD-3.1.2 | 6.57E-06 | |
31655 | 35 | E/D | 56 | rs769555143 | 0.5305 | None | gnomAD-4.0.0 | 2.47884E-06 | |
31655 | 35 | E/K | 56 | None | 0.5305 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31656 | 36 | L/I | 58 | rs748010504 | 0.2388 | None | gnomAD-2.1.1 | 4.02E-06 | |
31656 | 36 | L/I | 58 | rs748010504 | 0.2388 | None | gnomAD-4.0.0 | 6.84219E-07 | |
31656 | 36 | L/V | 58 | rs748010504 | 0.2388 | None | gnomAD-4.0.0 | 6.84219E-07 | |
31657 | 37 | D/E | 69 | rs781088841 | 0.7401 | None | gnomAD-2.1.1 | 4.02E-06 | |
31657 | 37 | D/E | 69 | rs781088841 | 0.7401 | None | gnomAD-4.0.0 | 3.42103E-06 | |
31658 | 38 | L/I | 70 | rs754798671 | 0.7144 | None | gnomAD-2.1.1 | 4.02E-06 | |
31658 | 38 | L/I | 70 | rs754798671 | 0.7144 | None | gnomAD-4.0.0 | 1.59127E-06 | |
31659 | 39 | C/Y | 73 | rs747276133 | 0.2785 | None | gnomAD-2.1.1 | 4.02E-06 | |
31659 | 39 | C/Y | 73 | rs747276133 | 0.2785 | None | gnomAD-3.1.2 | 6.57E-06 | |
31659 | 39 | C/Y | 73 | rs747276133 | 0.2785 | None | gnomAD-4.0.0 | 6.57367E-06 | |
31660 | 40 | E/G | 102 | None | 1.0416 | None | gnomAD-4.0.0 | 1.59124E-06 | |
31660 | 40 | E/K | 102 | None | 1.0416 | None | gnomAD-4.0.0 | 1.59126E-06 | |
31661 | 41 | K/E | 115 | rs1268995899 | 0.2733 | None | gnomAD-2.1.1 | 4.02E-06 | |
31661 | 41 | K/E | 115 | rs1268995899 | 0.2733 | None | gnomAD-4.0.0 | 1.36841E-06 | |
31661 | 41 | K/N | 115 | None | 0.2733 | None | gnomAD-4.0.0 | 6.84208E-07 | |
31662 | 42 | V/D | 121 | rs1164809267 | 0.1665 | None | gnomAD-2.1.1 | 3.19E-05 | |
31662 | 42 | V/D | 121 | rs1164809267 | 0.1665 | None | gnomAD-3.1.2 | 6.58E-06 | |
31662 | 42 | V/D | 121 | rs1164809267 | 0.1665 | None | gnomAD-4.0.0 | 2.56243E-06 | |
31662 | 42 | V/L | 121 | None | 0.1665 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31665 | 45 | Q/H | 125 | None | 0.7090 | None | gnomAD-4.0.0 | 3.18241E-06 | |
31665 | 45 | Q/P | 125 | None | 0.7090 | None | gnomAD-4.0.0 | 6.842E-07 | |
31665 | 45 | Q/R | 125 | None | 0.7090 | None | gnomAD-4.0.0 | 6.842E-07 | |
31668 | 48 | G/D | 131 | rs1196141227 | 0.3520 | None | gnomAD-2.1.1 | 4.02E-06 | |
31668 | 48 | G/D | 131 | rs1196141227 | 0.3520 | None | gnomAD-3.1.2 | 6.57E-06 | |
31668 | 48 | G/D | 131 | rs1196141227 | 0.3520 | None | gnomAD-4.0.0 | 6.5722E-06 | |
31668 | 48 | G/S | 131 | rs577136681 | 0.3520 | None | gnomAD-2.1.1 | 4.02E-06 | |
31668 | 48 | G/S | 131 | rs577136681 | 0.3520 | None | gnomAD-3.1.2 | 6.57E-06 | |
31668 | 48 | G/S | 131 | rs577136681 | 0.3520 | None | 1000 genomes | 1.99681E-04 | |
31668 | 48 | G/S | 131 | rs577136681 | 0.3520 | None | gnomAD-4.0.0 | 2.47861E-06 | |
31669 | 49 | K/Q | 134 | None | 0.8721 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31670 | 50 | R/Q | 135 | rs750410616 | 0.4704 | None | gnomAD-2.1.1 | 2.41E-05 | |
31670 | 50 | R/Q | 135 | rs750410616 | 0.4704 | None | gnomAD-4.0.0 | 9.57883E-06 | |
31671 | 51 | A/P | 136 | rs1225295047 | 0.0866 | None | gnomAD-2.1.1 | 4.02E-06 | |
31671 | 51 | A/P | 136 | rs1225295047 | 0.0866 | None | gnomAD-4.0.0 | 1.5912E-06 | |
31672 | 52 | T/I | 137 | rs765777016 | 0.1857 | None | gnomAD-2.1.1 | 4.02E-06 | |
31672 | 52 | T/I | 137 | rs765777016 | 0.1857 | None | gnomAD-4.0.0 | 6.842E-07 | |
31672 | 52 | T/S | 137 | None | 0.1857 | None | gnomAD-4.0.0 | 6.842E-07 | |
31673 | 53 | A/V | 138 | rs200920551 | 0.0888 | None | gnomAD-4.0.0 | 4.77373E-06 | |
31674 | 54 | V/A | 139 | rs754222897 | 0.2415 | None | gnomAD-2.1.1 | 1.21E-05 | |
31674 | 54 | V/A | 139 | rs754222897 | 0.2415 | None | gnomAD-3.1.2 | 6.57E-06 | |
31674 | 54 | V/A | 139 | rs754222897 | 0.2415 | None | gnomAD-4.0.0 | 8.67537E-06 | |
31674 | 54 | V/L | 139 | rs1559147307 | 0.2415 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31675 | 55 | I/T | 140 | None | 0.0983 | None | gnomAD-4.0.0 | 1.59123E-06 | |
31676 | 56 | K/T | 141 | None | 0.3997 | None | gnomAD-4.0.0 | 1.59123E-06 | |
31677 | 57 | F/L | 143 | rs1559147244 | 0.7495 | None | gnomAD-4.0.0 | 2.40065E-06 | |
31677 | 57 | F/S | 143 | None | 0.7495 | None | gnomAD-4.0.0 | 1.59125E-06 | |
31678 | 58 | C/R | 144 | rs2555818 | 0.0956 | None | gnomAD-4.0.0 | 1.59126E-06 | |
31678 | 58 | C/Y | 144 | None | 0.0956 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31679 | 59 | D/G | 145 | None | 0.3278 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31679 | 59 | D/N | 145 | rs116567963 | 0.3278 | None | gnomAD-2.1.1 | 1.50973E-03 | |
31679 | 59 | D/N | 145 | rs116567963 | 0.3278 | None | gnomAD-3.1.2 | 4.41519E-03 | |
31679 | 59 | D/N | 145 | rs116567963 | 0.3278 | None | 1000 genomes | 3.99361E-03 | |
31679 | 59 | D/N | 145 | rs116567963 | 0.3278 | None | gnomAD-4.0.0 | 8.09861E-04 | |
31680 | 60 | R/G | 146 | rs760992930 | 0.2822 | None | gnomAD-2.1.1 | 4.02E-06 | |
31680 | 60 | R/G | 146 | rs760992930 | 0.2822 | None | gnomAD-4.0.0 | 1.59126E-06 | |
31681 | 61 | S/N | 148 | rs780124773 | 0.4108 | None | gnomAD-2.1.1 | 1.43E-05 | |
31681 | 61 | S/N | 148 | rs780124773 | 0.4108 | None | gnomAD-3.1.2 | 6.57E-06 | |
31681 | 61 | S/N | 148 | rs780124773 | 0.4108 | None | gnomAD-4.0.0 | 1.05345E-05 | |
31682 | 62 | D/E | 149 | rs1447931152 | 0.1520 | None | gnomAD-2.1.1 | 4.02E-06 | |
31682 | 62 | D/E | 149 | rs1447931152 | 0.1520 | None | gnomAD-3.1.2 | 6.57E-06 | |
31682 | 62 | D/E | 149 | rs1447931152 | 0.1520 | None | gnomAD-4.0.0 | 1.23938E-06 | |
31682 | 62 | D/G | 149 | None | 0.1520 | None | gnomAD-4.0.0 | 1.59129E-06 | |
31683 | 63 | S/G | 151 | rs72648257 | 0.2548 | None | gnomAD-2.1.1 | 2.57578E-02 | |
31683 | 63 | S/G | 151 | rs72648257 | 0.2548 | None | gnomAD-3.1.2 | 2.02147E-02 | |
31683 | 63 | S/G | 151 | rs72648257 | 0.2548 | None | 1000 genomes | 2.23642E-02 | |
31683 | 63 | S/G | 151 | rs72648257 | 0.2548 | None | gnomAD-4.0.0 | 2.28999E-02 | |
31683 | 63 | S/R | 151 | rs1697090717 | 0.2548 | None | gnomAD-4.0.0 | 6.8422E-07 | |
31684 | 64 | G/E | 152 | rs750325170 | 0.1991 | None | gnomAD-4.0.0 | 6.00161E-06 | |
31684 | 64 | G/R | 152 | rs1217644142 | 0.1991 | None | gnomAD-3.1.2 | 6.57E-06 | |
31684 | 64 | G/R | 152 | rs1217644142 | 0.1991 | None | gnomAD-4.0.0 | 6.57082E-06 | |
31687 | 67 | T/I | 155 | rs1471246687 | 0.1940 | None | gnomAD-2.1.1 | 4.02E-06 | |
31687 | 67 | T/I | 155 | rs1471246687 | 0.1940 | None | gnomAD-4.0.0 | 2.73694E-06 | |
31688 | 68 | L/S | 156 | rs794729538 | 0.1055 | None | gnomAD-4.0.0 | 2.40064E-06 | |
31690 | 70 | V/A | 158 | rs1224358849 | 0.1713 | None | gnomAD-3.1.2 | 6.57E-06 | |
31690 | 70 | V/A | 158 | rs1224358849 | 0.1713 | None | gnomAD-4.0.0 | 2.02981E-06 | |
31690 | 70 | V/L | 158 | rs727503543 | 0.1713 | None | gnomAD-4.0.0 | 6.84294E-07 | |
31690 | 70 | V/M | 158 | rs727503543 | 0.1713 | None | gnomAD-2.1.1 | 1.07E-05 | |
31690 | 70 | V/M | 158 | rs727503543 | 0.1713 | None | gnomAD-3.1.2 | 3.28E-05 | |
31690 | 70 | V/M | 158 | rs727503543 | 0.1713 | None | gnomAD-4.0.0 | 4.64806E-05 | |
31692 | 72 | N/K | 161 | rs769796501 | 0.1723 | None | gnomAD-2.1.1 | 4.03E-06 | |
31692 | 72 | N/K | 161 | rs769796501 | 0.1723 | None | gnomAD-3.1.2 | 6.57E-06 | |
31692 | 72 | N/K | 161 | rs769796501 | 0.1723 | None | gnomAD-4.0.0 | 2.47937E-06 | |
31692 | 72 | N/T | 161 | rs772560479 | 0.1723 | None | gnomAD-2.1.1 | 4.02E-06 | |
31692 | 72 | N/Y | 161 | None | 0.1723 | None | gnomAD-4.0.0 | 1.59235E-06 | |
31693 | 73 | A/D | 162 | rs2288326 | 0.6583 | None | gnomAD-2.1.1 | 1.75095E-04 | |
31693 | 73 | A/D | 162 | rs2288326 | 0.6583 | None | gnomAD-3.1.2 | 1.38002E-04 | |
31693 | 73 | A/D | 162 | rs2288326 | 0.6583 | None | 1000 genomes | 1.39776E-03 | |
31693 | 73 | A/D | 162 | rs2288326 | 0.6583 | None | gnomAD-4.0.0 | 1.95876E-04 | |
31693 | 73 | A/T | 162 | rs928573760 | 0.6583 | None | gnomAD-4.0.0 | 1.16351E-05 | |
31694 | 74 | S/R | 163 | rs776679937 | 0.6593 | None | gnomAD-2.1.1 | 4.03E-06 | |
31695 | 75 | G/R | 164 | rs376403373 | 0.3513 | None | gnomAD-2.1.1 | 5.36E-05 | |
31695 | 75 | G/R | 164 | rs376403373 | 0.3513 | None | gnomAD-3.1.2 | 1.05152E-04 | |
31695 | 75 | G/R | 164 | rs376403373 | 0.3513 | None | gnomAD-4.0.0 | 8.55507E-05 | |
31696 | 76 | T/A | 165 | rs1205411867 | 0.4977 | None | gnomAD-2.1.1 | 1.21E-05 | |
31696 | 76 | T/A | 165 | rs1205411867 | 0.4977 | None | gnomAD-3.1.2 | 1.31E-05 | |
31696 | 76 | T/A | 165 | rs1205411867 | 0.4977 | None | gnomAD-4.0.0 | 5.12847E-06 | |
31696 | 76 | T/S | 165 | None | 0.4977 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31698 | 78 | A/P | 168 | None | 0.3585 | None | gnomAD-4.0.0 | 1.5943E-06 | |
31699 | 79 | V/M | 169 | rs751420355 | 0.5261 | None | gnomAD-2.1.1 | 3.23E-05 | |
31699 | 79 | V/M | 169 | rs751420355 | 0.5261 | None | gnomAD-3.1.2 | 3.29E-05 | |
31699 | 79 | V/M | 169 | rs751420355 | 0.5261 | None | gnomAD-4.0.0 | 2.66854E-05 | |
31702 | 82 | M/I | 173 | None | 0.2436 | None | gnomAD-4.0.0 | 2.05814E-06 | |
31702 | 82 | M/L | 173 | rs370696758 | 0.2436 | None | gnomAD-2.1.1 | 4.05E-06 | |
31702 | 82 | M/L | 173 | rs370696758 | 0.2436 | None | gnomAD-3.1.2 | 6.57E-06 | |
31702 | 82 | M/L | 173 | rs370696758 | 0.2436 | None | gnomAD-4.0.0 | 1.86259E-06 | |
31702 | 82 | M/T | 173 | rs778808720 | 0.2436 | None | gnomAD-2.1.1 | 8.1E-06 | |
31702 | 82 | M/T | 173 | rs778808720 | 0.2436 | None | gnomAD-3.1.2 | 6.57E-06 | |
31702 | 82 | M/T | 173 | rs778808720 | 0.2436 | None | gnomAD-4.0.0 | 3.10482E-06 | |
31702 | 82 | M/V | 173 | rs370696758 | 0.2436 | None | gnomAD-2.1.1 | 4.05E-06 | |
31702 | 82 | M/V | 173 | rs370696758 | 0.2436 | None | gnomAD-4.0.0 | 4.11398E-06 | |
31703 | 83 | V/I | 174 | rs757333745 | 0.1131 | None | gnomAD-2.1.1 | 4.06E-06 | |
31703 | 83 | V/I | 174 | rs757333745 | 0.1131 | None | gnomAD-4.0.0 | 6.86056E-07 | |
31703 | 83 | V/L | 174 | rs757333745 | 0.1131 | None | gnomAD-4.0.0 | 4.11633E-06 | |
31704 | 84 | K/R | 175 | rs754379972 | 0.3871 | None | gnomAD-2.1.1 | 8.13E-06 | |
31704 | 84 | K/R | 175 | rs754379972 | 0.3871 | None | gnomAD-4.0.0 | 4.81439E-06 | |
31705 | 85 | V/A | 177 | None | 0.1121 | None | gnomAD-4.0.0 | 1.60676E-06 | |
31705 | 85 | V/L | 177 | None | 0.1121 | None | gnomAD-4.0.0 | 1.60598E-06 |