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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
8643 | 1 | P/H | 1 | rs746681999 | 0.0739 | None | gnomAD-4.0.0 | 6.90654E-07 | |
8643 | 1 | P/R | 1 | rs746681999 | 0.0739 | None | gnomAD-2.1.1 | 4.21E-06 | |
8643 | 1 | P/R | 1 | rs746681999 | 0.0739 | None | gnomAD-4.0.0 | 1.72663E-05 | |
8643 | 1 | P/S | 1 | rs754532440 | 0.0739 | None | gnomAD-2.1.1 | 8.42E-06 | |
8643 | 1 | P/S | 1 | rs754532440 | 0.0739 | None | gnomAD-4.0.0 | 1.79559E-05 | |
8644 | 2 | I/T | 2 | rs779643078 | 0.1092 | None | gnomAD-2.1.1 | 4.18E-06 | |
8644 | 2 | I/T | 2 | rs779643078 | 0.1092 | None | gnomAD-4.0.0 | 1.62272E-06 | |
8644 | 2 | I/V | 2 | rs2077304950 | 0.1092 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8646 | 4 | R/C | 4 | rs72648987 | 0.4332 | None | gnomAD-2.1.1 | 1.65369E-02 | |
8646 | 4 | R/C | 4 | rs72648987 | 0.4332 | None | gnomAD-3.1.2 | 1.65713E-02 | |
8646 | 4 | R/C | 4 | rs72648987 | 0.4332 | None | 1000 genomes | 9.38498E-03 | |
8646 | 4 | R/C | 4 | rs72648987 | 0.4332 | None | gnomAD-4.0.0 | 1.88575E-02 | |
8646 | 4 | R/H | 4 | rs144587343 | 0.4332 | None | gnomAD-2.1.1 | 7.37E-05 | |
8646 | 4 | R/H | 4 | rs144587343 | 0.4332 | None | gnomAD-3.1.2 | 1.64619E-04 | |
8646 | 4 | R/H | 4 | rs144587343 | 0.4332 | None | 1000 genomes | 3.99361E-04 | |
8646 | 4 | R/H | 4 | rs144587343 | 0.4332 | None | gnomAD-4.0.0 | 1.07994E-04 | |
8646 | 4 | R/L | 4 | rs144587343 | 0.4332 | None | gnomAD-3.1.2 | 6.58E-06 | |
8646 | 4 | R/L | 4 | rs144587343 | 0.4332 | None | gnomAD-4.0.0 | 1.24858E-06 | |
8647 | 5 | K/R | 5 | None | 0.5775 | None | gnomAD-4.0.0 | 1.37709E-06 | |
8648 | 6 | K/E | 7 | rs188234466 | 0.3853 | None | gnomAD-2.1.1 | 4.56E-05 | |
8648 | 6 | K/E | 7 | rs188234466 | 0.3853 | None | gnomAD-3.1.2 | 7.23E-05 | |
8648 | 6 | K/E | 7 | rs188234466 | 0.3853 | None | 1000 genomes | 5.99042E-04 | |
8648 | 6 | K/E | 7 | rs188234466 | 0.3853 | None | gnomAD-4.0.0 | 2.24337E-05 | |
8648 | 6 | K/M | 7 | rs2077303070 | 0.3853 | None | gnomAD-3.1.2 | 1.31E-05 | |
8648 | 6 | K/M | 7 | rs2077303070 | 0.3853 | None | gnomAD-4.0.0 | 1.31461E-05 | |
8649 | 7 | P/L | 8 | rs1414275142 | 0.1678 | None | gnomAD-2.1.1 | 4.14E-06 | |
8649 | 7 | P/L | 8 | rs1414275142 | 0.1678 | None | gnomAD-4.0.0 | 1.61329E-06 | |
8650 | 8 | H/N | 9 | None | 0.8058 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8650 | 8 | H/Q | 9 | rs372385679 | 0.8058 | None | gnomAD-2.1.1 | 4.1E-06 | |
8650 | 8 | H/R | 9 | None | 0.8058 | None | gnomAD-4.0.0 | 3.22006E-06 | |
8650 | 8 | H/Y | 9 | None | 0.8058 | None | gnomAD-4.0.0 | 7.20195E-06 | |
8651 | 9 | P/L | 11 | rs368758220 | 0.3134 | None | gnomAD-2.1.1 | 4.1E-06 | |
8651 | 9 | P/L | 11 | rs368758220 | 0.3134 | None | gnomAD-3.1.2 | 6.57E-06 | |
8651 | 9 | P/L | 11 | rs368758220 | 0.3134 | None | gnomAD-4.0.0 | 2.58533E-06 | |
8652 | 10 | I/M | 13 | rs760452917 | 0.1722 | None | gnomAD-2.1.1 | 1.17649E-04 | |
8652 | 10 | I/M | 13 | rs760452917 | 0.1722 | None | gnomAD-3.1.2 | 1.97E-05 | |
8652 | 10 | I/M | 13 | rs760452917 | 0.1722 | None | gnomAD-4.0.0 | 5.02958E-05 | |
8652 | 10 | I/V | 13 | rs763953118 | 0.1722 | None | gnomAD-2.1.1 | 1.22E-05 | |
8652 | 10 | I/V | 13 | rs763953118 | 0.1722 | None | gnomAD-3.1.2 | 1.31E-05 | |
8652 | 10 | I/V | 13 | rs763953118 | 0.1722 | None | gnomAD-4.0.0 | 3.10478E-06 | |
8653 | 11 | E/D | 14 | rs879235743 | 0.2682 | None | gnomAD-2.1.1 | 3.19E-05 | |
8653 | 11 | E/D | 14 | rs879235743 | 0.2682 | None | gnomAD-3.1.2 | 6.58E-06 | |
8653 | 11 | E/D | 14 | rs879235743 | 0.2682 | None | gnomAD-4.0.0 | 2.56592E-06 | |
8653 | 11 | E/G | 14 | None | 0.2682 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8653 | 11 | E/K | 14 | None | 0.2682 | None | gnomAD-4.0.0 | 1.60023E-06 | |
8653 | 11 | E/Q | 14 | rs566740788 | 0.2682 | None | gnomAD-2.1.1 | 4.06E-06 | |
8653 | 11 | E/Q | 14 | rs566740788 | 0.2682 | None | gnomAD-3.1.2 | 6.58E-06 | |
8653 | 11 | E/Q | 14 | rs566740788 | 0.2682 | None | 1000 genomes | 1.99681E-04 | |
8653 | 11 | E/Q | 14 | rs566740788 | 0.2682 | None | gnomAD-4.0.0 | 2.57369E-06 | |
8654 | 12 | T/I | 16 | rs547017929 | 0.1333 | None | gnomAD-2.1.1 | 1.32847E-04 | |
8654 | 12 | T/I | 16 | rs547017929 | 0.1333 | None | gnomAD-3.1.2 | 1.97E-05 | |
8654 | 12 | T/I | 16 | rs547017929 | 0.1333 | None | 1000 genomes | 3.99361E-04 | |
8654 | 12 | T/I | 16 | rs547017929 | 0.1333 | None | gnomAD-4.0.0 | 4.58689E-05 | |
8654 | 12 | T/R | 16 | None | 0.1333 | None | gnomAD-4.0.0 | 6.84442E-07 | |
8655 | 13 | L/P | 18 | rs759578526 | 0.4477 | None | gnomAD-2.1.1 | 4.02E-06 | |
8655 | 13 | L/P | 18 | rs759578526 | 0.4477 | None | gnomAD-4.0.0 | 1.36866E-06 | |
8655 | 13 | L/R | 18 | None | 0.4477 | None | gnomAD-4.0.0 | 6.84328E-07 | |
8657 | 15 | G/A | 24 | rs766866317 | 0.2222 | None | gnomAD-4.0.0 | 4.8013E-06 | |
8657 | 15 | G/E | 24 | rs766866317 | 0.2222 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8658 | 16 | A/P | 25 | rs1182186384 | 0.1330 | None | gnomAD-2.1.1 | 4.02E-06 | |
8658 | 16 | A/P | 25 | rs1182186384 | 0.1330 | None | gnomAD-4.0.0 | 2.0529E-06 | |
8658 | 16 | A/V | 25 | None | 0.1330 | None | gnomAD-4.0.0 | 3.18338E-06 | |
8659 | 17 | D/N | 26 | rs774443573 | 0.2570 | None | gnomAD-2.1.1 | 8.04E-06 | |
8659 | 17 | D/N | 26 | rs774443573 | 0.2570 | None | gnomAD-4.0.0 | 4.77512E-06 | |
8659 | 17 | D/V | 26 | rs1276014518 | 0.2570 | None | gnomAD-2.1.1 | 1.21E-05 | |
8659 | 17 | D/V | 26 | rs1276014518 | 0.2570 | None | gnomAD-4.0.0 | 6.36659E-06 | |
8660 | 18 | V/A | 28 | None | 0.1339 | None | gnomAD-4.0.0 | 2.40065E-06 | |
8660 | 18 | V/I | 28 | rs141856116 | 0.1339 | None | gnomAD-2.1.1 | 1.49573E-03 | |
8660 | 18 | V/I | 28 | rs141856116 | 0.1339 | None | gnomAD-3.1.2 | 3.46405E-03 | |
8660 | 18 | V/I | 28 | rs141856116 | 0.1339 | None | 1000 genomes | 3.79393E-03 | |
8660 | 18 | V/I | 28 | rs141856116 | 0.1339 | None | gnomAD-4.0.0 | 1.02997E-03 | |
8661 | 19 | H/Y | 29 | None | 0.3177 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8665 | 23 | E/G | 34 | rs1226104343 | 0.2955 | None | gnomAD-2.1.1 | 8.04E-06 | |
8665 | 23 | E/G | 34 | rs1226104343 | 0.2955 | None | gnomAD-4.0.0 | 1.91592E-05 | |
8666 | 24 | L/F | 35 | None | 0.0820 | None | gnomAD-4.0.0 | 2.73703E-06 | |
8667 | 25 | Q/E | 38 | None | 0.2353 | None | gnomAD-4.0.0 | 1.5915E-06 | |
8668 | 26 | G/A | 40 | None | 0.1135 | None | gnomAD-4.0.0 | 1.59146E-06 | |
8669 | 27 | T/I | 41 | rs773386252 | 0.2067 | None | gnomAD-2.1.1 | 4.02E-06 | |
8669 | 27 | T/S | 41 | rs773386252 | 0.2067 | None | gnomAD-2.1.1 | 4.02E-06 | |
8669 | 27 | T/S | 41 | rs773386252 | 0.2067 | None | gnomAD-4.0.0 | 1.59147E-06 | |
8670 | 28 | P/A | 42 | rs1577904664 | 0.2337 | None | gnomAD-4.0.0 | 5.47397E-06 | |
8670 | 28 | P/H | 42 | rs770195041 | 0.2337 | None | gnomAD-2.1.1 | 4.02E-06 | |
8670 | 28 | P/H | 42 | rs770195041 | 0.2337 | None | gnomAD-3.1.2 | 6.57E-06 | |
8670 | 28 | P/H | 42 | rs770195041 | 0.2337 | None | gnomAD-4.0.0 | 1.23948E-06 | |
8670 | 28 | P/L | 42 | rs770195041 | 0.2337 | None | gnomAD-4.0.0 | 1.36849E-05 | |
8670 | 28 | P/S | 42 | None | 0.2337 | None | gnomAD-4.0.0 | 6.84246E-07 | |
8670 | 28 | P/T | 42 | None | 0.2337 | None | gnomAD-4.0.0 | 1.36849E-06 | |
8671 | 29 | P/A | 43 | rs373927854 | 0.5145 | None | gnomAD-2.1.1 | 4.02E-06 | |
8671 | 29 | P/L | 43 | rs2077292301 | 0.5145 | None | gnomAD-4.0.0 | 1.59142E-06 | |
8671 | 29 | P/S | 43 | None | 0.5145 | None | gnomAD-4.0.0 | 2.40065E-06 | |
8673 | 31 | H/Q | 45 | rs370266918 | 0.6750 | None | gnomAD-2.1.1 | 4.02E-06 | |
8673 | 31 | H/Q | 45 | rs370266918 | 0.6750 | None | gnomAD-4.0.0 | 1.36848E-06 | |
8674 | 32 | V/D | 46 | None | 0.2295 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8674 | 32 | V/I | 46 | rs375710902 | 0.2295 | None | gnomAD-2.1.1 | 2.14E-05 | |
8674 | 32 | V/I | 46 | rs375710902 | 0.2295 | None | gnomAD-3.1.2 | 2.63E-05 | |
8674 | 32 | V/I | 46 | rs375710902 | 0.2295 | None | gnomAD-4.0.0 | 6.81711E-06 | |
8674 | 32 | V/L | 46 | None | 0.2295 | None | gnomAD-4.0.0 | 1.36848E-06 | |
8675 | 33 | S/F | 47 | rs868429008 | 0.1720 | None | gnomAD-2.1.1 | 4.02E-06 | |
8675 | 33 | S/F | 47 | rs868429008 | 0.1720 | None | gnomAD-3.1.2 | 6.57E-06 | |
8675 | 33 | S/F | 47 | rs868429008 | 0.1720 | None | gnomAD-4.0.0 | 2.56254E-06 | |
8676 | 34 | W/R | 48 | None | 0.1129 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8677 | 35 | Y/C | 49 | rs778578388 | 0.1598 | None | gnomAD-2.1.1 | 1.21E-05 | |
8677 | 35 | Y/C | 49 | rs778578388 | 0.1598 | None | gnomAD-4.0.0 | 4.51598E-05 | |
8678 | 36 | K/E | 50 | rs2077288683 | 0.0690 | None | gnomAD-3.1.2 | 6.57E-06 | |
8678 | 36 | K/E | 50 | rs2077288683 | 0.0690 | None | gnomAD-4.0.0 | 2.5623E-06 | |
8678 | 36 | K/T | 50 | rs1208054129 | 0.0690 | None | gnomAD-3.1.2 | 6.57E-06 | |
8678 | 36 | K/T | 50 | rs1208054129 | 0.0690 | None | gnomAD-4.0.0 | 5.12478E-06 | |
8679 | 37 | D/A | 51 | rs373587266 | 0.3766 | None | gnomAD-3.1.2 | 6.57E-06 | |
8679 | 37 | D/A | 51 | rs373587266 | 0.3766 | None | gnomAD-4.0.0 | 6.56564E-06 | |
8679 | 37 | D/V | 51 | None | 0.3766 | None | gnomAD-4.0.0 | 1.5914E-06 | |
8682 | 40 | E/Q | 56 | None | 0.2036 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8683 | 41 | L/F | 58 | rs932810095 | 0.0955 | None | gnomAD-3.1.2 | 2.63E-05 | |
8683 | 41 | L/F | 58 | rs932810095 | 0.0955 | None | gnomAD-4.0.0 | 4.33812E-06 | |
8683 | 41 | L/V | 58 | rs932810095 | 0.0955 | None | gnomAD-2.1.1 | 1.07E-05 | |
8683 | 41 | L/V | 58 | rs932810095 | 0.0955 | None | gnomAD-3.1.2 | 6.57E-06 | |
8683 | 41 | L/V | 58 | rs932810095 | 0.0955 | None | gnomAD-4.0.0 | 1.67328E-05 | |
8684 | 42 | R/M | 59 | rs1185236077 | 0.3928 | None | gnomAD-2.1.1 | 4.02E-06 | |
8684 | 42 | R/M | 59 | rs1185236077 | 0.3928 | None | gnomAD-4.0.0 | 1.36848E-06 | |
8685 | 43 | S/G | 70 | None | 0.4217 | None | gnomAD-4.0.0 | 6.84234E-07 | |
8685 | 43 | S/R | 70 | rs878932254 | 0.4217 | None | gnomAD-2.1.1 | 4.02E-06 | |
8685 | 43 | S/R | 70 | rs878932254 | 0.4217 | None | gnomAD-4.0.0 | 3.42117E-06 | |
8685 | 43 | S/T | 70 | None | 0.4217 | None | gnomAD-4.0.0 | 1.59143E-06 | |
8686 | 44 | G/A | 73 | None | 0.2932 | None | gnomAD-4.0.0 | 6.84242E-07 | |
8686 | 44 | G/S | 73 | rs370578197 | 0.2932 | None | gnomAD-2.1.1 | 8.92E-05 | |
8686 | 44 | G/S | 73 | rs370578197 | 0.2932 | None | gnomAD-3.1.2 | 5.26E-05 | |
8686 | 44 | G/S | 73 | rs370578197 | 0.2932 | None | gnomAD-4.0.0 | 3.0988E-05 | |
8686 | 44 | G/V | 73 | None | 0.2932 | None | gnomAD-4.0.0 | 1.36848E-06 | |
8687 | 45 | K/N | 102 | None | 0.8230 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8687 | 45 | K/Q | 102 | rs753822494 | 0.8230 | None | gnomAD-2.1.1 | 4.02E-06 | |
8687 | 45 | K/Q | 102 | rs753822494 | 0.8230 | None | gnomAD-3.1.2 | 1.31E-05 | |
8687 | 45 | K/Q | 102 | rs753822494 | 0.8230 | None | gnomAD-4.0.0 | 4.05977E-06 | |
8689 | 47 | Y/C | 121 | None | 0.1290 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8690 | 48 | K/E | 122 | rs1060500411 | 0.4166 | None | gnomAD-2.1.1 | 4.02E-06 | |
8690 | 48 | K/E | 122 | rs1060500411 | 0.4166 | None | gnomAD-4.0.0 | 3.18278E-06 | |
8690 | 48 | K/R | 122 | rs755911258 | 0.4166 | None | gnomAD-2.1.1 | 4.02E-06 | |
8690 | 48 | K/R | 122 | rs755911258 | 0.4166 | None | gnomAD-4.0.0 | 1.36847E-06 | |
8691 | 49 | I/M | 123 | None | 0.1490 | None | gnomAD-4.0.0 | 1.36848E-06 | |
8691 | 49 | I/R | 123 | rs1354912931 | 0.1490 | None | gnomAD-2.1.1 | 4.02E-06 | |
8691 | 49 | I/R | 123 | rs1354912931 | 0.1490 | None | gnomAD-4.0.0 | 6.84234E-07 | |
8691 | 49 | I/T | 123 | None | 0.1490 | None | gnomAD-4.0.0 | 2.0527E-06 | |
8691 | 49 | I/V | 123 | None | 0.1490 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8692 | 50 | M/I | 125 | rs1041074010 | 0.3575 | None | gnomAD-4.0.0 | 1.16321E-05 | |
8693 | 51 | S/P | 127 | None | 0.2861 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8694 | 52 | E/Q | 130 | rs373247663 | 0.3548 | None | gnomAD-2.1.1 | 4.02E-06 | |
8695 | 53 | N/D | 131 | rs767736451 | 0.3432 | None | gnomAD-2.1.1 | 1.21E-05 | |
8695 | 53 | N/D | 131 | rs767736451 | 0.3432 | None | gnomAD-3.1.2 | 6.57E-06 | |
8695 | 53 | N/D | 131 | rs767736451 | 0.3432 | None | gnomAD-4.0.0 | 9.91551E-06 | |
8695 | 53 | N/K | 131 | None | 0.3432 | None | gnomAD-4.0.0 | 1.59141E-06 | |
8697 | 55 | L/R | 135 | rs1364653469 | 0.2153 | None | gnomAD-2.1.1 | 8.04E-06 | |
8697 | 55 | L/R | 135 | rs1364653469 | 0.2153 | None | gnomAD-4.0.0 | 3.18283E-06 | |
8698 | 56 | T/S | 136 | rs751582645 | 0.1213 | None | gnomAD-2.1.1 | 4.02E-06 | |
8698 | 56 | T/S | 136 | rs751582645 | 0.1213 | None | gnomAD-4.0.0 | 1.59141E-06 | |
8699 | 57 | S/G | 137 | rs1164228016 | 0.0949 | None | gnomAD-2.1.1 | 4.02E-06 | |
8699 | 57 | S/G | 137 | rs1164228016 | 0.0949 | None | gnomAD-4.0.0 | 1.59143E-06 | |
8699 | 57 | S/N | 137 | rs1311071697 | 0.0949 | None | gnomAD-4.0.0 | 1.23162E-05 | |
8700 | 58 | I/N | 138 | rs1404662292 | 0.0639 | None | gnomAD-2.1.1 | 4.02E-06 | |
8700 | 58 | I/N | 138 | rs1404662292 | 0.0639 | None | gnomAD-4.0.0 | 1.59141E-06 | |
8700 | 58 | I/V | 138 | None | 0.0639 | None | gnomAD-4.0.0 | 1.36847E-06 | |
8702 | 60 | I/V | 140 | rs1560608555 | 0.0853 | None | gnomAD-2.1.1 | 4.02E-06 | |
8702 | 60 | I/V | 140 | rs1560608555 | 0.0853 | None | gnomAD-4.0.0 | 3.18287E-06 | |
8703 | 61 | L/P | 141 | None | 0.1497 | None | gnomAD-4.0.0 | 1.5915E-06 | |
8706 | 64 | D/N | 145 | rs377074955 | 0.2205 | None | gnomAD-2.1.1 | 2.01E-05 | |
8706 | 64 | D/N | 145 | rs377074955 | 0.2205 | None | gnomAD-3.1.2 | 1.31E-05 | |
8706 | 64 | D/N | 145 | rs377074955 | 0.2205 | None | gnomAD-4.0.0 | 3.9665E-05 | |
8706 | 64 | D/V | 145 | rs763090296 | 0.2205 | None | gnomAD-2.1.1 | 8.04E-06 | |
8706 | 64 | D/V | 145 | rs763090296 | 0.2205 | None | gnomAD-4.0.0 | 3.18302E-06 | |
8707 | 65 | A/V | 146 | rs773760649 | 0.3158 | None | gnomAD-2.1.1 | 1.21E-05 | |
8707 | 65 | A/V | 146 | rs773760649 | 0.3158 | None | gnomAD-3.1.2 | 1.31E-05 | |
8707 | 65 | A/V | 146 | rs773760649 | 0.3158 | None | gnomAD-4.0.0 | 4.95808E-06 | |
8708 | 66 | A/T | 148 | rs2077272281 | 0.2525 | None | gnomAD-3.1.2 | 6.57E-06 | |
8708 | 66 | A/T | 148 | rs2077272281 | 0.2525 | None | gnomAD-4.0.0 | 3.0988E-06 | |
8708 | 66 | A/V | 148 | rs770253655 | 0.2525 | None | gnomAD-2.1.1 | 2.41E-05 | |
8708 | 66 | A/V | 148 | rs770253655 | 0.2525 | None | gnomAD-4.0.0 | 9.54934E-06 | |
8709 | 67 | D/V | 149 | rs1444153454 | 0.1144 | None | gnomAD-2.1.1 | 3.19E-05 | |
8709 | 67 | D/V | 149 | rs1444153454 | 0.1144 | None | gnomAD-3.1.2 | 6.57E-06 | |
8709 | 67 | D/V | 149 | rs1444153454 | 0.1144 | None | gnomAD-4.0.0 | 6.5741E-06 | |
8710 | 68 | I/F | 151 | None | 0.1616 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8710 | 68 | I/L | 151 | rs530696557 | 0.1616 | None | gnomAD-2.1.1 | 4.02E-06 | |
8710 | 68 | I/L | 151 | rs530696557 | 0.1616 | None | 1000 genomes | 1.99681E-04 | |
8710 | 68 | I/M | 151 | None | 0.1616 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8711 | 69 | G/R | 152 | rs1220276093 | 0.1359 | None | gnomAD-2.1.1 | 4.02E-06 | |
8711 | 69 | G/R | 152 | rs1220276093 | 0.1359 | None | gnomAD-4.0.0 | 1.59173E-06 | |
8712 | 70 | E/K | 153 | None | 0.2815 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8713 | 71 | Y/C | 154 | rs1294600680 | 0.1023 | None | gnomAD-2.1.1 | 4.02E-06 | |
8713 | 71 | Y/C | 154 | rs1294600680 | 0.1023 | None | gnomAD-4.0.0 | 1.59176E-06 | |
8713 | 71 | Y/D | 154 | None | 0.1023 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8714 | 72 | Q/E | 155 | None | 0.1166 | None | gnomAD-4.0.0 | 1.59179E-06 | |
8714 | 72 | Q/H | 155 | rs2077266939 | 0.1166 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8715 | 73 | C/F | 156 | rs183499397 | 0.0581 | None | gnomAD-2.1.1 | 2.82E-05 | |
8715 | 73 | C/F | 156 | rs183499397 | 0.0581 | None | gnomAD-3.1.2 | 1.31E-05 | |
8715 | 73 | C/F | 156 | rs183499397 | 0.0581 | None | gnomAD-4.0.0 | 2.10733E-05 | |
8715 | 73 | C/R | 156 | rs2077266576 | 0.0581 | None | gnomAD-3.1.2 | 6.57E-06 | |
8715 | 73 | C/R | 156 | rs2077266576 | 0.0581 | None | gnomAD-4.0.0 | 3.84458E-06 | |
8715 | 73 | C/Y | 156 | rs183499397 | 0.0581 | None | gnomAD-2.1.1 | 6.79E-05 | |
8715 | 73 | C/Y | 156 | rs183499397 | 0.0581 | None | gnomAD-3.1.2 | 5.26E-05 | |
8715 | 73 | C/Y | 156 | rs183499397 | 0.0581 | None | 1000 genomes | 1.99681E-04 | |
8715 | 73 | C/Y | 156 | rs183499397 | 0.0581 | None | gnomAD-4.0.0 | 1.92125E-05 | |
8719 | 77 | N/D | 161 | rs770551201 | 0.1248 | None | gnomAD-2.1.1 | 8.06E-06 | |
8719 | 77 | N/D | 161 | rs770551201 | 0.1248 | None | gnomAD-4.0.0 | 2.05336E-06 | |
8720 | 78 | D/N | 162 | rs980079508 | 0.6610 | None | gnomAD-2.1.1 | 4.03E-06 | |
8720 | 78 | D/N | 162 | rs980079508 | 0.6610 | None | gnomAD-4.0.0 | 2.05364E-06 | |
8720 | 78 | D/Y | 162 | rs980079508 | 0.6610 | None | gnomAD-4.0.0 | 2.73818E-06 | |
8721 | 79 | V/M | 163 | rs777730788 | 0.1715 | None | gnomAD-2.1.1 | 2.29894E-04 | |
8721 | 79 | V/M | 163 | rs777730788 | 0.1715 | None | gnomAD-3.1.2 | 5.26E-05 | |
8721 | 79 | V/M | 163 | rs777730788 | 0.1715 | None | gnomAD-4.0.0 | 1.08498E-04 | |
8722 | 80 | G/R | 164 | None | 0.1722 | None | gnomAD-4.0.0 | 1.59352E-06 | |
8723 | 81 | S/R | 165 | rs1304915212 | 0.3025 | None | gnomAD-3.1.2 | 6.57E-06 | |
8723 | 81 | S/R | 165 | rs1304915212 | 0.3025 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8724 | 82 | D/E | 166 | rs752485826 | 0.3203 | None | gnomAD-2.1.1 | 4.04E-06 | |
8724 | 82 | D/E | 166 | rs752485826 | 0.3203 | None | gnomAD-4.0.0 | 6.84888E-07 | |
8724 | 82 | D/N | 166 | rs756034176 | 0.3203 | None | gnomAD-2.1.1 | 1.21E-05 | |
8724 | 82 | D/N | 166 | rs756034176 | 0.3203 | None | gnomAD-4.0.0 | 4.79472E-06 | |
8724 | 82 | D/Y | 166 | rs756034176 | 0.3203 | None | gnomAD-2.1.1 | 8.09E-06 | |
8724 | 82 | D/Y | 166 | rs756034176 | 0.3203 | None | gnomAD-4.0.0 | 6.84961E-06 | |
8725 | 83 | T/I | 168 | rs1342253967 | 0.2135 | None | gnomAD-3.1.2 | 4.6E-05 | |
8725 | 83 | T/I | 168 | rs1342253967 | 0.2135 | None | gnomAD-4.0.0 | 1.54037E-05 | |
8725 | 83 | T/S | 168 | None | 0.2135 | None | gnomAD-4.0.0 | 1.59528E-06 | |
8726 | 84 | C/W | 169 | None | 0.0878 | None | gnomAD-4.0.0 | 2.05571E-06 | |
8726 | 84 | C/Y | 169 | rs786205399 | 0.0878 | None | gnomAD-2.1.1 | 3.19E-05 | |
8726 | 84 | C/Y | 169 | rs786205399 | 0.0878 | None | gnomAD-3.1.2 | 6.57E-06 | |
8726 | 84 | C/Y | 169 | rs786205399 | 0.0878 | None | gnomAD-4.0.0 | 2.02991E-06 | |
8727 | 85 | V/F | 171 | rs544958705 | 0.2431 | None | gnomAD-4.0.0 | 3.42702E-06 | |
8727 | 85 | V/G | 171 | None | 0.2431 | None | gnomAD-4.0.0 | 1.597E-06 | |
8727 | 85 | V/I | 171 | rs544958705 | 0.2431 | None | gnomAD-2.1.1 | 1.08E-05 | |
8727 | 85 | V/I | 171 | rs544958705 | 0.2431 | None | gnomAD-3.1.2 | 1.97E-05 | |
8727 | 85 | V/I | 171 | rs544958705 | 0.2431 | None | 1000 genomes | 1.99681E-04 | |
8727 | 85 | V/I | 171 | rs544958705 | 0.2431 | None | gnomAD-4.0.0 | 1.05509E-05 | |
8729 | 87 | S/F | 173 | rs1429923693 | 0.1585 | None | gnomAD-2.1.1 | 4.07E-06 | |
8729 | 87 | S/F | 173 | rs1429923693 | 0.1585 | None | gnomAD-4.0.0 | 1.60083E-06 | |
8731 | 89 | A/P | 175 | rs1013992395 | 0.1902 | None | gnomAD-3.1.2 | 6.57E-06 | |
8731 | 89 | A/P | 175 | rs1013992395 | 0.1902 | None | gnomAD-4.0.0 | 6.57315E-06 | |
8731 | 89 | A/S | 175 | None | 0.1902 | None | gnomAD-4.0.0 | 1.37455E-06 | |
8731 | 89 | A/T | 175 | rs1013992395 | 0.1902 | None | gnomAD-2.1.1 | 8.23E-06 | |
8731 | 89 | A/T | 175 | rs1013992395 | 0.1902 | None | gnomAD-3.1.2 | 6.57E-06 | |
8731 | 89 | A/T | 175 | rs1013992395 | 0.1902 | None | gnomAD-4.0.0 | 9.95547E-06 | |
8731 | 89 | A/V | 175 | rs1479171654 | 0.1902 | None | gnomAD-2.1.1 | 4.11E-06 | |
8731 | 89 | A/V | 175 | rs1479171654 | 0.1902 | None | gnomAD-4.0.0 | 4.82279E-06 | |
8732 | 90 | L/P | 177 | None | 0.2294 | None | gnomAD-4.0.0 | 1.20032E-06 |