10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | S | F | T | K | K | L | K | K | M | D | S | I | K | G | S | F | I | D | L | E | C | I | V | A | G | S | H | P | I | S | I | Q | W | F | K | D | D | Q | E | I | S | A | S | E | K | Y | K | F | S | F | H | D | N | T | A | F | L | E | I | S | Q | L | E | G | T | D | S | G | T | Y | T | C | S | A | T | N | K | A | G | H | N | Q | C | S | G | H | L | T | V | K | E | P | P | Y | F | V | E | K | P | Q | S | Q | D | V | N | P | N | T | R | V | Q | L | K | A | L | V | G | G | T | A | P | M | T | I | K | W | F | K | D | N | K | E | L | H | S | G | A | A | R | S | V | W | K | D | D | T | S | T | S | L | E | L | F | A | A | K | A | T | D | S | G | T | Y | I | C | Q | L | S | N | D | V | G | T | A | T | S | K | A | T | L | F | V | K |
P | S | F | T | K | K | L | K | K | M | D | S | I | K | G | S | F | I | D | L | E | C | I | V | A | G | S | H | P | I | S | I | Q | W | F | K | D | D | Q | E | I | S | A | S | E | K | Y | K | F | S | F | H | D | N | T | A | F | L | E | I | S | Q | L | E | G | T | D | S | G | T | Y | T | C | S | A | T | N | K | A | G | H | N | Q | C | S | G | H | L | T | V | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
5919 | 1 | P/A | 1 | rs780414866 | 0.1916 | None | gnomAD-2.1.1 | 1.24E-05 | |
5919 | 1 | P/A | 1 | rs780414866 | 0.1916 | None | gnomAD-4.0.0 | 4.86145E-06 | |
5919 | 1 | P/L | 1 | rs1275881697 | 0.1916 | None | gnomAD-4.0.0 | 3.24051E-06 | |
5919 | 1 | P/S | 1 | rs780414866 | 0.1916 | None | gnomAD-2.1.1 | 8.28E-06 | |
5919 | 1 | P/S | 1 | rs780414866 | 0.1916 | None | gnomAD-4.0.0 | 3.24097E-06 | |
5921 | 3 | F/L | 3 | rs758858348 | 0.1595 | None | gnomAD-2.1.1 | 4.12E-06 | |
5921 | 3 | F/L | 3 | rs758858348 | 0.1595 | None | gnomAD-4.0.0 | 3.44378E-06 | |
5924 | 6 | K/E | 7 | None | 0.6258 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5924 | 6 | K/N | 7 | rs1336731959 | 0.6258 | None | gnomAD-3.1.2 | 6.58E-06 | |
5924 | 6 | K/N | 7 | rs1336731959 | 0.6258 | None | gnomAD-4.0.0 | 6.88028E-07 | |
5925 | 7 | L/M | 8 | rs750909367 | 0.1964 | None | gnomAD-4.0.0 | 6.87957E-07 | |
5925 | 7 | L/V | 8 | rs750909367 | 0.1964 | None | gnomAD-2.1.1 | 4.1E-06 | |
5925 | 7 | L/V | 8 | rs750909367 | 0.1964 | None | gnomAD-4.0.0 | 8.94344E-06 | |
5926 | 8 | K/N | 9 | rs755607488 | 0.8346 | None | gnomAD-2.1.1 | 1.23E-05 | |
5926 | 8 | K/N | 9 | rs755607488 | 0.8346 | None | gnomAD-4.0.0 | 6.87216E-07 | |
5926 | 8 | K/Q | 9 | None | 0.8346 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5927 | 9 | K/Q | 11 | None | 0.6419 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5928 | 10 | M/I | 13 | rs752412937 | 0.3343 | None | gnomAD-2.1.1 | 8.17E-06 | |
5928 | 10 | M/I | 13 | rs752412937 | 0.3343 | None | gnomAD-4.0.0 | 1.60558E-06 | |
5928 | 10 | M/K | 13 | rs1337129774 | 0.3343 | None | gnomAD-2.1.1 | 4.08E-06 | |
5928 | 10 | M/K | 13 | rs1337129774 | 0.3343 | None | gnomAD-4.0.0 | 1.60533E-06 | |
5929 | 11 | D/N | 14 | None | 0.5733 | None | gnomAD-4.0.0 | 1.20033E-06 | |
5930 | 12 | S/R | 16 | None | 0.2069 | None | gnomAD-4.0.0 | 1.20033E-06 | |
5931 | 13 | I/L | 18 | None | 0.4702 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5931 | 13 | I/V | 18 | rs556014670 | 0.4702 | None | gnomAD-2.1.1 | 4.07E-06 | |
5931 | 13 | I/V | 18 | rs556014670 | 0.4702 | None | gnomAD-3.1.2 | 6.57E-06 | |
5931 | 13 | I/V | 18 | rs556014670 | 0.4702 | None | 1000 genomes | 1.99681E-04 | |
5931 | 13 | I/V | 18 | rs556014670 | 0.4702 | None | gnomAD-4.0.0 | 6.56513E-06 | |
5932 | 14 | K/T | 23 | rs879062650 | 0.3618 | None | gnomAD-4.0.0 | 1.59791E-06 | |
5933 | 15 | G/C | 24 | rs759141033 | 0.4105 | None | gnomAD-2.1.1 | 4.06E-06 | |
5933 | 15 | G/C | 24 | rs759141033 | 0.4105 | None | gnomAD-4.0.0 | 8.22489E-06 | |
5933 | 15 | G/D | 24 | rs2080306772 | 0.4105 | None | gnomAD-4.0.0 | 8.40225E-06 | |
5933 | 15 | G/S | 24 | rs759141033 | 0.4105 | None | gnomAD-2.1.1 | 4.06E-06 | |
5933 | 15 | G/S | 24 | rs759141033 | 0.4105 | None | gnomAD-4.0.0 | 4.79785E-06 | |
5934 | 16 | S/Y | 25 | None | 0.2316 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5936 | 18 | I/S | 28 | rs1365679296 | 0.1795 | None | gnomAD-2.1.1 | 8.11E-06 | |
5936 | 18 | I/S | 28 | rs1365679296 | 0.1795 | None | gnomAD-3.1.2 | 6.57E-06 | |
5936 | 18 | I/S | 28 | rs1365679296 | 0.1795 | None | gnomAD-4.0.0 | 1.23973E-06 | |
5936 | 18 | I/T | 28 | rs1365679296 | 0.1795 | None | gnomAD-2.1.1 | 6.37E-05 | |
5936 | 18 | I/T | 28 | rs1365679296 | 0.1795 | None | gnomAD-3.1.2 | 1.31E-05 | |
5936 | 18 | I/T | 28 | rs1365679296 | 0.1795 | None | gnomAD-4.0.0 | 1.8596E-06 | |
5936 | 18 | I/V | 28 | rs72648945 | 0.1795 | None | gnomAD-2.1.1 | 9.71E-05 | |
5936 | 18 | I/V | 28 | rs72648945 | 0.1795 | None | gnomAD-3.1.2 | 9.2E-05 | |
5936 | 18 | I/V | 28 | rs72648945 | 0.1795 | None | gnomAD-4.0.0 | 1.17777E-04 | |
5938 | 20 | L/F | 30 | rs1217786152 | 0.1385 | None | gnomAD-4.0.0 | 1.20033E-06 | |
5939 | 21 | E/G | 31 | None | 0.2487 | None | gnomAD-4.0.0 | 1.59203E-06 | |
5940 | 22 | C/R | 33 | rs374882815 | 0.0840 | None | gnomAD-2.1.1 | 1.4374E-04 | |
5940 | 22 | C/R | 33 | rs374882815 | 0.0840 | None | gnomAD-3.1.2 | 1.24857E-04 | |
5940 | 22 | C/R | 33 | rs374882815 | 0.0840 | None | gnomAD-4.0.0 | 1.11564E-04 | |
5941 | 23 | I/M | 34 | rs372022675 | 0.2429 | None | gnomAD-2.1.1 | 4.05E-06 | |
5941 | 23 | I/M | 34 | rs372022675 | 0.2429 | None | gnomAD-3.1.2 | 6.57E-06 | |
5941 | 23 | I/M | 34 | rs372022675 | 0.2429 | None | gnomAD-4.0.0 | 6.08953E-06 | |
5941 | 23 | I/R | 34 | rs773190186 | 0.2429 | None | gnomAD-3.1.2 | 6.57E-06 | |
5941 | 23 | I/R | 34 | rs773190186 | 0.2429 | None | gnomAD-4.0.0 | 6.5716E-06 | |
5941 | 23 | I/T | 34 | rs773190186 | 0.2429 | None | gnomAD-2.1.1 | 1.62E-05 | |
5941 | 23 | I/T | 34 | rs773190186 | 0.2429 | None | gnomAD-3.1.2 | 6.57E-06 | |
5941 | 23 | I/T | 34 | rs773190186 | 0.2429 | None | gnomAD-4.0.0 | 6.19762E-06 | |
5941 | 23 | I/V | 34 | rs397517487 | 0.2429 | None | gnomAD-2.1.1 | 3.95E-05 | |
5941 | 23 | I/V | 34 | rs397517487 | 0.2429 | None | gnomAD-3.1.2 | 6.57E-05 | |
5941 | 23 | I/V | 34 | rs397517487 | 0.2429 | None | 1000 genomes | 1.99681E-04 | |
5941 | 23 | I/V | 34 | rs397517487 | 0.2429 | None | gnomAD-4.0.0 | 1.92111E-05 | |
5942 | 24 | V/L | 35 | None | 0.1055 | None | gnomAD-4.0.0 | 6.84311E-07 | |
5943 | 25 | A/S | 38 | rs1421739163 | 0.3455 | None | gnomAD-3.1.2 | 6.57E-06 | |
5943 | 25 | A/S | 38 | rs1421739163 | 0.3455 | None | gnomAD-4.0.0 | 2.03E-06 | |
5944 | 26 | G/E | 40 | rs879222472 | 0.3710 | None | gnomAD-3.1.2 | 1.32E-05 | |
5944 | 26 | G/E | 40 | rs879222472 | 0.3710 | None | gnomAD-4.0.0 | 4.95842E-06 | |
5944 | 26 | G/R | 40 | rs879142796 | 0.3710 | None | gnomAD-2.1.1 | 3.19E-05 | |
5944 | 26 | G/R | 40 | rs879142796 | 0.3710 | None | gnomAD-3.1.2 | 1.32E-05 | |
5944 | 26 | G/R | 40 | rs879142796 | 0.3710 | None | gnomAD-4.0.0 | 3.84453E-06 | |
5944 | 26 | G/V | 40 | rs879222472 | 0.3710 | None | gnomAD-2.1.1 | 1.62E-05 | |
5944 | 26 | G/V | 40 | rs879222472 | 0.3710 | None | gnomAD-4.0.0 | 7.52716E-06 | |
5945 | 27 | S/A | 41 | rs776790387 | 0.6795 | None | gnomAD-4.0.0 | 2.97189E-04 | |
5945 | 27 | S/P | 41 | rs776790387 | 0.6795 | None | gnomAD-2.1.1 | 2.86E-05 | |
5945 | 27 | S/P | 41 | rs776790387 | 0.6795 | None | gnomAD-3.1.2 | 3.94E-05 | |
5945 | 27 | S/P | 41 | rs776790387 | 0.6795 | None | gnomAD-4.0.0 | 6.57329E-05 | |
5946 | 28 | H/L | 42 | None | 0.6887 | None | gnomAD-4.0.0 | 6.84283E-07 | |
5946 | 28 | H/R | 42 | rs1417520677 | 0.6887 | None | gnomAD-4.0.0 | 1.36857E-06 | |
5946 | 28 | H/Y | 42 | rs1251182445 | 0.6887 | None | gnomAD-2.1.1 | 4.04E-06 | |
5946 | 28 | H/Y | 42 | rs1251182445 | 0.6887 | None | gnomAD-4.0.0 | 2.73716E-06 | |
5947 | 29 | P/A | 43 | None | 0.7962 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5948 | 30 | I/T | 44 | rs772946744 | 0.1377 | None | gnomAD-2.1.1 | 1.21E-05 | |
5948 | 30 | I/T | 44 | rs772946744 | 0.1377 | None | gnomAD-3.1.2 | 1.31E-05 | |
5948 | 30 | I/T | 44 | rs772946744 | 0.1377 | None | gnomAD-4.0.0 | 1.2395E-05 | |
5948 | 30 | I/V | 44 | rs780320662 | 0.1377 | None | gnomAD-2.1.1 | 7.17E-06 | |
5948 | 30 | I/V | 44 | rs780320662 | 0.1377 | None | gnomAD-3.1.2 | 6.57E-06 | |
5948 | 30 | I/V | 44 | rs780320662 | 0.1377 | None | gnomAD-4.0.0 | 6.81727E-06 | |
5949 | 31 | S/G | 45 | rs368275231 | 0.4797 | None | gnomAD-2.1.1 | 4.04E-06 | |
5949 | 31 | S/G | 45 | rs368275231 | 0.4797 | None | gnomAD-4.0.0 | 1.59159E-06 | |
5949 | 31 | S/N | 45 | rs1578154475 | 0.4797 | None | gnomAD-4.0.0 | 1.36855E-06 | |
5952 | 34 | W/R | 48 | None | 0.1073 | None | gnomAD-4.0.0 | 1.59159E-06 | |
5952 | 34 | W/S | 48 | rs2080292615 | 0.1073 | None | gnomAD-3.1.2 | 6.58E-06 | |
5952 | 34 | W/S | 48 | rs2080292615 | 0.1073 | None | gnomAD-4.0.0 | 6.57583E-06 | |
5954 | 36 | K/T | 50 | rs1036512589 | 0.1251 | None | gnomAD-3.1.2 | 1.31E-05 | |
5954 | 36 | K/T | 50 | rs1036512589 | 0.1251 | None | gnomAD-4.0.0 | 1.31451E-05 | |
5955 | 37 | D/G | 51 | None | 0.4165 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5956 | 38 | D/E | 52 | rs879248826 | 0.9557 | None | gnomAD-3.1.2 | 6.58E-06 | |
5956 | 38 | D/E | 52 | rs879248826 | 0.9557 | None | gnomAD-4.0.0 | 1.36851E-06 | |
5956 | 38 | D/V | 52 | rs1322586586 | 0.9557 | None | gnomAD-2.1.1 | 4.03E-06 | |
5956 | 38 | D/V | 52 | rs1322586586 | 0.9557 | None | gnomAD-4.0.0 | 1.5915E-06 | |
5957 | 39 | Q/E | 55 | rs201672969 | 0.7665 | None | gnomAD-2.1.1 | 2.15E-05 | |
5957 | 39 | Q/E | 55 | rs201672969 | 0.7665 | None | gnomAD-3.1.2 | 5.26E-05 | |
5957 | 39 | Q/E | 55 | rs201672969 | 0.7665 | None | gnomAD-4.0.0 | 5.76398E-05 | |
5957 | 39 | Q/H | 55 | rs181067357 | 0.7665 | None | gnomAD-2.1.1 | 2.25512E-04 | |
5957 | 39 | Q/H | 55 | rs181067357 | 0.7665 | None | gnomAD-3.1.2 | 1.97202E-04 | |
5957 | 39 | Q/H | 55 | rs181067357 | 0.7665 | None | gnomAD-4.0.0 | 1.87767E-04 | |
5958 | 40 | E/D | 56 | rs2080287202 | 0.4045 | None | gnomAD-3.1.2 | 6.57E-06 | |
5958 | 40 | E/D | 56 | rs2080287202 | 0.4045 | None | gnomAD-4.0.0 | 4.95792E-06 | |
5959 | 41 | I/M | 58 | rs576711300 | 0.1161 | None | gnomAD-3.1.2 | 6.57E-06 | |
5959 | 41 | I/M | 58 | rs576711300 | 0.1161 | None | 1000 genomes | 1.99681E-04 | |
5959 | 41 | I/M | 58 | rs576711300 | 0.1161 | None | gnomAD-4.0.0 | 3.84328E-06 | |
5960 | 42 | S/A | 59 | None | 0.6603 | None | gnomAD-4.0.0 | 1.5915E-06 | |
5961 | 43 | A/T | 70 | rs2080285790 | 0.4923 | None | gnomAD-3.1.2 | 6.57E-06 | |
5961 | 43 | A/T | 70 | rs2080285790 | 0.4923 | None | gnomAD-4.0.0 | 6.57428E-06 | |
5961 | 43 | A/V | 70 | rs909915866 | 0.4923 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5962 | 44 | S/G | 73 | None | 0.2717 | None | gnomAD-4.0.0 | 2.05278E-06 | |
5962 | 44 | S/I | 73 | None | 0.2717 | None | gnomAD-4.0.0 | 2.40064E-06 | |
5963 | 45 | E/G | 102 | rs146983095 | 1.0240 | None | gnomAD-2.1.1 | 6.24446E-03 | |
5963 | 45 | E/G | 102 | rs146983095 | 1.0240 | None | gnomAD-3.1.2 | 6.04128E-03 | |
5963 | 45 | E/G | 102 | rs146983095 | 1.0240 | None | 1000 genomes | 2.19649E-03 | |
5963 | 45 | E/G | 102 | rs146983095 | 1.0240 | None | gnomAD-4.0.0 | 9.71013E-03 | |
5965 | 47 | Y/H | 121 | rs752226947 | 0.1767 | None | gnomAD-2.1.1 | 5.01E-05 | |
5965 | 47 | Y/H | 121 | rs752226947 | 0.1767 | None | gnomAD-3.1.2 | 5.92E-05 | |
5965 | 47 | Y/H | 121 | rs752226947 | 0.1767 | None | gnomAD-4.0.0 | 2.60307E-05 | |
5966 | 48 | K/T | 122 | rs1469567732 | 0.5115 | None | gnomAD-2.1.1 | 4.03E-06 | |
5966 | 48 | K/T | 122 | rs1469567732 | 0.5115 | None | gnomAD-4.0.0 | 2.73703E-06 | |
5967 | 49 | F/L | 123 | rs1404382323 | 0.3634 | None | gnomAD-2.1.1 | 4.03E-06 | |
5967 | 49 | F/L | 123 | rs1404382323 | 0.3634 | None | gnomAD-3.1.2 | 6.58E-06 | |
5967 | 49 | F/L | 123 | rs1404382323 | 0.3634 | None | gnomAD-4.0.0 | 1.85932E-06 | |
5968 | 50 | S/C | 125 | None | 0.3431 | None | gnomAD-4.0.0 | 1.36854E-06 | |
5969 | 51 | F/S | 127 | rs1480885716 | 0.2787 | None | gnomAD-2.1.1 | 4.02E-06 | |
5969 | 51 | F/S | 127 | rs1480885716 | 0.2787 | None | gnomAD-4.0.0 | 1.59155E-06 | |
5970 | 52 | H/P | 130 | rs539871760 | 0.4574 | None | gnomAD-2.1.1 | 4.02E-06 | |
5970 | 52 | H/P | 130 | rs539871760 | 0.4574 | None | gnomAD-3.1.2 | 6.57E-06 | |
5970 | 52 | H/P | 130 | rs539871760 | 0.4574 | None | 1000 genomes | 1.99681E-04 | |
5970 | 52 | H/P | 130 | rs539871760 | 0.4574 | None | gnomAD-4.0.0 | 6.56676E-06 | |
5970 | 52 | H/R | 130 | rs539871760 | 0.4574 | None | gnomAD-2.1.1 | 4.02E-06 | |
5971 | 53 | D/G | 131 | rs750122705 | 0.9169 | None | gnomAD-2.1.1 | 1.21E-05 | |
5971 | 53 | D/G | 131 | rs750122705 | 0.9169 | None | gnomAD-4.0.0 | 9.54927E-06 | |
5971 | 53 | D/N | 131 | rs762806572 | 0.9169 | None | gnomAD-2.1.1 | 2.01E-05 | |
5971 | 53 | D/N | 131 | rs762806572 | 0.9169 | None | gnomAD-3.1.2 | 6.57E-06 | |
5971 | 53 | D/N | 131 | rs762806572 | 0.9169 | None | gnomAD-4.0.0 | 1.15325E-05 | |
5971 | 53 | D/V | 131 | rs750122705 | 0.9169 | None | gnomAD-2.1.1 | 8.05E-06 | |
5971 | 53 | D/V | 131 | rs750122705 | 0.9169 | None | gnomAD-3.1.2 | 6.57E-06 | |
5971 | 53 | D/V | 131 | rs750122705 | 0.9169 | None | gnomAD-4.0.0 | 3.84386E-06 | |
5972 | 54 | N/S | 134 | rs1447713863 | 0.4184 | None | gnomAD-3.1.2 | 6.57E-06 | |
5972 | 54 | N/S | 134 | rs1447713863 | 0.4184 | None | gnomAD-4.0.0 | 3.04486E-06 | |
5973 | 55 | T/I | 135 | rs765275978 | 0.1259 | None | gnomAD-2.1.1 | 4.02E-06 | |
5973 | 55 | T/I | 135 | rs765275978 | 0.1259 | None | gnomAD-3.1.2 | 6.57E-06 | |
5973 | 55 | T/I | 135 | rs765275978 | 0.1259 | None | gnomAD-4.0.0 | 6.57428E-06 | |
5973 | 55 | T/P | 135 | None | 0.1259 | None | gnomAD-4.0.0 | 1.59154E-06 | |
5973 | 55 | T/S | 135 | None | 0.1259 | None | gnomAD-4.0.0 | 1.59154E-06 | |
5974 | 56 | A/S | 136 | rs761789723 | 0.0725 | None | gnomAD-2.1.1 | 4.02E-06 | |
5975 | 57 | F/V | 137 | rs776879045 | 0.2577 | None | gnomAD-2.1.1 | 4.02E-06 | |
5975 | 57 | F/V | 137 | rs776879045 | 0.2577 | None | gnomAD-4.0.0 | 1.59157E-06 | |
5979 | 61 | S/N | 141 | rs1188866592 | 0.3060 | None | gnomAD-4.0.0 | 1.5916E-06 | |
5980 | 62 | Q/P | 143 | None | 0.8398 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5982 | 64 | E/D | 145 | rs760854297 | 0.5365 | None | gnomAD-2.1.1 | 4.02E-06 | |
5982 | 64 | E/D | 145 | rs760854297 | 0.5365 | None | gnomAD-4.0.0 | 1.59162E-06 | |
5983 | 65 | G/A | 146 | rs775766481 | 0.2366 | None | gnomAD-2.1.1 | 4.02E-06 | |
5983 | 65 | G/A | 146 | rs775766481 | 0.2366 | None | gnomAD-3.1.2 | 1.97E-05 | |
5983 | 65 | G/A | 146 | rs775766481 | 0.2366 | None | gnomAD-4.0.0 | 3.09885E-06 | |
5983 | 65 | G/D | 146 | None | 0.2366 | None | gnomAD-4.0.0 | 1.36855E-06 | |
5983 | 65 | G/S | 146 | rs1283178531 | 0.2366 | None | gnomAD-2.1.1 | 8.04E-06 | |
5983 | 65 | G/S | 146 | rs1283178531 | 0.2366 | None | gnomAD-4.0.0 | 6.36657E-06 | |
5984 | 66 | T/A | 148 | rs772384158 | 0.7087 | None | gnomAD-2.1.1 | 4.42E-05 | |
5984 | 66 | T/A | 148 | rs772384158 | 0.7087 | None | gnomAD-3.1.2 | 2.63E-05 | |
5984 | 66 | T/A | 148 | rs772384158 | 0.7087 | None | gnomAD-4.0.0 | 5.14395E-05 | |
5984 | 66 | T/I | 148 | None | 0.7087 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5984 | 66 | T/P | 148 | None | 0.7087 | None | gnomAD-4.0.0 | 6.8428E-07 | |
5985 | 67 | D/G | 149 | rs1452556096 | 0.1354 | None | gnomAD-2.1.1 | 4.02E-06 | |
5985 | 67 | D/G | 149 | rs1452556096 | 0.1354 | None | gnomAD-4.0.0 | 1.36856E-06 | |
5985 | 67 | D/N | 149 | rs746248401 | 0.1354 | None | gnomAD-2.1.1 | 4.02E-06 | |
5985 | 67 | D/V | 149 | rs1452556096 | 0.1354 | None | gnomAD-2.1.1 | 4.02E-06 | |
5985 | 67 | D/V | 149 | rs1452556096 | 0.1354 | None | gnomAD-4.0.0 | 1.36856E-06 | |
5986 | 68 | S/G | 151 | rs779199136 | 0.2106 | None | gnomAD-2.1.1 | 4.02E-06 | |
5986 | 68 | S/G | 151 | rs779199136 | 0.2106 | None | gnomAD-4.0.0 | 4.1057E-06 | |
5986 | 68 | S/R | 151 | None | 0.2106 | None | gnomAD-4.0.0 | 1.36857E-06 | |
5986 | 68 | S/T | 151 | None | 0.2106 | None | gnomAD-4.0.0 | 1.59167E-06 | |
5987 | 69 | G/E | 152 | None | 0.1183 | None | gnomAD-4.0.0 | 1.59172E-06 | |
5988 | 70 | T/I | 153 | rs749765281 | 0.3069 | None | gnomAD-2.1.1 | 2.01E-05 | |
5988 | 70 | T/I | 153 | rs749765281 | 0.3069 | None | gnomAD-3.1.2 | 1.31E-05 | |
5988 | 70 | T/I | 153 | rs749765281 | 0.3069 | None | gnomAD-4.0.0 | 1.40954E-05 | |
5990 | 72 | T/A | 155 | rs570762307 | 0.1722 | None | gnomAD-2.1.1 | 8.04E-06 | |
5990 | 72 | T/A | 155 | rs570762307 | 0.1722 | None | gnomAD-3.1.2 | 1.97E-05 | |
5990 | 72 | T/A | 155 | rs570762307 | 0.1722 | None | 1000 genomes | 1.99681E-04 | |
5990 | 72 | T/A | 155 | rs570762307 | 0.1722 | None | gnomAD-4.0.0 | 5.57748E-06 | |
5990 | 72 | T/P | 155 | rs570762307 | 0.1722 | None | gnomAD-2.1.1 | 4.02E-06 | |
5990 | 72 | T/P | 155 | rs570762307 | 0.1722 | None | gnomAD-4.0.0 | 6.84297E-07 | |
5994 | 76 | T/S | 159 | rs751239780 | 0.3584 | None | gnomAD-2.1.1 | 2.01E-05 | |
5994 | 76 | T/S | 159 | rs751239780 | 0.3584 | None | gnomAD-4.0.0 | 7.96024E-06 | |
5997 | 79 | A/T | 163 | rs72648946 | 0.6743 | None | gnomAD-2.1.1 | 1.80344E-03 | |
5997 | 79 | A/T | 163 | rs72648946 | 0.6743 | None | gnomAD-3.1.2 | 5.2981E-03 | |
5997 | 79 | A/T | 163 | rs72648946 | 0.6743 | None | 1000 genomes | 3.79393E-03 | |
5997 | 79 | A/T | 163 | rs72648946 | 0.6743 | None | gnomAD-4.0.0 | 9.95458E-04 | |
5998 | 80 | G/R | 164 | rs757934638 | 0.2871 | None | gnomAD-2.1.1 | 4.02E-06 | |
5998 | 80 | G/R | 164 | rs757934638 | 0.2871 | None | gnomAD-4.0.0 | 1.36888E-06 | |
5999 | 81 | H/N | 165 | None | 0.5013 | None | gnomAD-4.0.0 | 1.59278E-06 | |
5999 | 81 | H/Y | 165 | rs1443927165 | 0.5013 | None | gnomAD-2.1.1 | 4.02E-06 | |
5999 | 81 | H/Y | 165 | rs1443927165 | 0.5013 | None | gnomAD-4.0.0 | 1.59278E-06 | |
6000 | 82 | N/D | 166 | None | 0.3578 | None | gnomAD-4.0.0 | 1.59313E-06 | |
6001 | 83 | Q/E | 168 | rs765081807 | 0.5371 | None | gnomAD-2.1.1 | 4.02E-06 | |
6001 | 83 | Q/E | 168 | rs765081807 | 0.5371 | None | gnomAD-4.0.0 | 2.0542E-06 | |
6001 | 83 | Q/H | 168 | rs142833401 | 0.5371 | None | gnomAD-2.1.1 | 3.18E-05 | |
6001 | 83 | Q/H | 168 | rs142833401 | 0.5371 | None | gnomAD-3.1.2 | 1.31E-05 | |
6001 | 83 | Q/H | 168 | rs142833401 | 0.5371 | None | gnomAD-4.0.0 | 1.3142E-05 | |
6002 | 84 | C/F | 169 | rs1415040904 | 0.0971 | None | gnomAD-3.1.2 | 6.57E-06 | |
6002 | 84 | C/F | 169 | rs1415040904 | 0.0971 | None | gnomAD-4.0.0 | 1.86158E-06 | |
6002 | 84 | C/Y | 169 | None | 0.0971 | None | gnomAD-4.0.0 | 6.85234E-07 | |
6005 | 87 | H/D | 173 | None | 0.3687 | None | gnomAD-4.0.0 | 3.44502E-06 | |
6005 | 87 | H/N | 173 | rs1241109741 | 0.3687 | None | gnomAD-2.1.1 | 4.06E-06 | |
6005 | 87 | H/N | 173 | rs1241109741 | 0.3687 | None | gnomAD-4.0.0 | 5.51203E-06 | |
6005 | 87 | H/Q | 173 | rs1213230929 | 0.3687 | None | gnomAD-2.1.1 | 4.06E-06 | |
6005 | 87 | H/Q | 173 | rs1213230929 | 0.3687 | None | gnomAD-4.0.0 | 4.85572E-06 | |
6005 | 87 | H/R | 173 | rs1560786611 | 0.3687 | None | gnomAD-2.1.1 | 4.07E-06 | |
6005 | 87 | H/R | 173 | rs1560786611 | 0.3687 | None | gnomAD-4.0.0 | 3.23652E-06 | |
6008 | 90 | V/A | 177 | None | 0.1073 | None | gnomAD-4.0.0 | 1.38598E-06 | |
6008 | 90 | V/I | 177 | None | 0.1073 | None | gnomAD-4.0.0 | 1.63982E-06 |