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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
32708 | 1 | E/K | 1 | rs1428233034 | 0.8507 | None | gnomAD-2.1.1 | 1.61E-05 | |
32708 | 1 | E/K | 1 | rs1428233034 | 0.8507 | None | gnomAD-3.1.2 | 6.57E-06 | |
32708 | 1 | E/K | 1 | rs1428233034 | 0.8507 | None | gnomAD-4.0.0 | 4.33876E-06 | |
32709 | 2 | R/G | 2 | rs1372889503 | 0.3287 | None | gnomAD-2.1.1 | 4.03E-06 | |
32710 | 3 | Y/H | 3 | None | 0.1400 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32712 | 5 | E/D | 9 | rs1169770151 | 0.8911 | None | gnomAD-2.1.1 | 4.02E-06 | |
32712 | 5 | E/D | 9 | rs1169770151 | 0.8911 | None | gnomAD-4.0.0 | 5.47444E-06 | |
32712 | 5 | E/Q | 9 | None | 0.8911 | None | gnomAD-4.0.0 | 1.59164E-06 | |
32713 | 6 | G/D | 11 | rs1374598528 | 0.2094 | None | gnomAD-3.1.2 | 6.58E-06 | |
32713 | 6 | G/D | 11 | rs1374598528 | 0.2094 | None | gnomAD-4.0.0 | 1.23953E-06 | |
32713 | 6 | G/S | 11 | None | 0.2094 | None | gnomAD-4.0.0 | 1.36853E-06 | |
32713 | 6 | G/V | 11 | None | 0.2094 | None | gnomAD-4.0.0 | 6.84246E-07 | |
32715 | 8 | F/L | 14 | rs1693570743 | 0.5813 | None | gnomAD-3.1.2 | 6.57E-06 | |
32715 | 8 | F/L | 14 | rs1693570743 | 0.5813 | None | gnomAD-4.0.0 | 6.5703E-06 | |
32715 | 8 | F/S | 14 | None | 0.5813 | None | gnomAD-4.0.0 | 1.59133E-06 | |
32715 | 8 | F/V | 14 | None | 0.5813 | None | gnomAD-4.0.0 | 9.57915E-06 | |
32716 | 9 | V/A | 16 | None | 0.1539 | None | gnomAD-4.0.0 | 1.59128E-06 | |
32716 | 9 | V/I | 16 | None | 0.1539 | None | gnomAD-4.0.0 | 1.59133E-06 | |
32720 | 13 | G/D | 25 | None | 0.2204 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32721 | 14 | V/I | 26 | rs533651182 | 0.4129 | None | gnomAD-2.1.1 | 3.62E-05 | |
32721 | 14 | V/I | 26 | rs533651182 | 0.4129 | None | gnomAD-3.1.2 | 6.58E-06 | |
32721 | 14 | V/I | 26 | rs533651182 | 0.4129 | None | 1000 genomes | 1.99681E-04 | |
32721 | 14 | V/I | 26 | rs533651182 | 0.4129 | None | gnomAD-4.0.0 | 1.98298E-05 | |
32722 | 15 | I/F | 28 | rs72648270 | 0.1086 | None | gnomAD-2.1.1 | 2.57618E-02 | |
32722 | 15 | I/F | 28 | rs72648270 | 0.1086 | None | gnomAD-3.1.2 | 1.84986E-02 | |
32722 | 15 | I/F | 28 | rs72648270 | 0.1086 | None | 1000 genomes | 4.25319E-02 | |
32722 | 15 | I/F | 28 | rs72648270 | 0.1086 | None | gnomAD-4.0.0 | 2.16917E-02 | |
32722 | 15 | I/L | 28 | None | 0.1086 | None | gnomAD-4.0.0 | 1.3684E-06 | |
32723 | 16 | R/S | 29 | rs753058072 | 0.5636 | None | gnomAD-2.1.1 | 8.04E-06 | |
32723 | 16 | R/S | 29 | rs753058072 | 0.5636 | None | gnomAD-3.1.2 | 6.57E-06 | |
32723 | 16 | R/S | 29 | rs753058072 | 0.5636 | None | gnomAD-4.0.0 | 9.29525E-06 | |
32724 | 17 | L/P | 30 | None | 0.1051 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32725 | 18 | T/N | 31 | None | 0.3014 | None | gnomAD-4.0.0 | 1.20033E-06 | |
32726 | 19 | I/M | 33 | rs750062113 | 0.0962 | None | gnomAD-2.1.1 | 4.02E-06 | |
32726 | 19 | I/M | 33 | rs750062113 | 0.0962 | None | gnomAD-4.0.0 | 1.59121E-06 | |
32726 | 19 | I/T | 33 | rs758088774 | 0.0962 | None | gnomAD-2.1.1 | 4.02E-06 | |
32726 | 19 | I/T | 33 | rs758088774 | 0.0962 | None | gnomAD-4.0.0 | 6.15785E-06 | |
32726 | 19 | I/V | 33 | None | 0.0962 | None | gnomAD-4.0.0 | 1.59122E-06 | |
32727 | 20 | P/S | 34 | None | 0.3308 | None | gnomAD-4.0.0 | 6.84203E-07 | |
32727 | 20 | P/T | 34 | rs1276534291 | 0.3308 | None | gnomAD-2.1.1 | 4.02E-06 | |
32727 | 20 | P/T | 34 | rs1276534291 | 0.3308 | None | gnomAD-4.0.0 | 6.84203E-07 | |
32728 | 21 | I/N | 35 | rs764737796 | 0.1220 | None | gnomAD-2.1.1 | 1.07E-05 | |
32728 | 21 | I/N | 35 | rs764737796 | 0.1220 | None | gnomAD-3.1.2 | 6.58E-06 | |
32728 | 21 | I/N | 35 | rs764737796 | 0.1220 | None | gnomAD-4.0.0 | 3.84425E-06 | |
32728 | 21 | I/V | 35 | None | 0.1220 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32729 | 22 | K/R | 38 | rs1368497531 | 0.4994 | None | gnomAD-2.1.1 | 4.02E-06 | |
32729 | 22 | K/R | 38 | rs1368497531 | 0.4994 | None | gnomAD-4.0.0 | 1.3684E-06 | |
32729 | 22 | K/T | 38 | rs1368497531 | 0.4994 | None | gnomAD-4.0.0 | 1.3684E-06 | |
32733 | 26 | F/S | 43 | None | 0.3922 | None | gnomAD-4.0.0 | 2.40065E-06 | |
32734 | 27 | P/Q | 44 | rs1559091870 | 0.1649 | None | gnomAD-4.0.0 | 2.40067E-06 | |
32735 | 28 | I/V | 45 | rs761246331 | 0.6903 | None | gnomAD-2.1.1 | 3.92E-05 | |
32735 | 28 | I/V | 45 | rs761246331 | 0.6903 | None | gnomAD-3.1.2 | 8.54E-05 | |
32735 | 28 | I/V | 45 | rs761246331 | 0.6903 | None | gnomAD-4.0.0 | 1.92108E-05 | |
32736 | 29 | C/Y | 46 | rs1693533292 | 0.2301 | None | gnomAD-4.0.0 | 3.18246E-06 | |
32738 | 31 | W/C | 48 | rs764039252 | 0.1795 | None | gnomAD-2.1.1 | 4.02E-06 | |
32738 | 31 | W/R | 48 | None | 0.1795 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32739 | 32 | T/I | 49 | rs886042542 | 0.1893 | None | gnomAD-3.1.2 | 6.58E-06 | |
32739 | 32 | T/I | 49 | rs886042542 | 0.1893 | None | gnomAD-4.0.0 | 2.56235E-06 | |
32740 | 33 | K/R | 50 | rs376999335 | 0.1320 | None | gnomAD-2.1.1 | 1.07E-05 | |
32740 | 33 | K/R | 50 | rs376999335 | 0.1320 | None | gnomAD-3.1.2 | 6.57E-06 | |
32740 | 33 | K/R | 50 | rs376999335 | 0.1320 | None | gnomAD-4.0.0 | 3.71805E-06 | |
32740 | 33 | K/T | 50 | rs376999335 | 0.1320 | None | gnomAD-3.1.2 | 6.57E-06 | |
32740 | 33 | K/T | 50 | rs376999335 | 0.1320 | None | gnomAD-4.0.0 | 6.57065E-06 | |
32741 | 34 | E/K | 51 | rs1693522689 | 0.4350 | None | gnomAD-3.1.2 | 6.57E-06 | |
32741 | 34 | E/K | 51 | rs1693522689 | 0.4350 | None | gnomAD-4.0.0 | 2.56216E-06 | |
32742 | 35 | G/D | 52 | rs201850303 | 0.4224 | None | gnomAD-2.1.1 | 4.28E-05 | |
32742 | 35 | G/D | 52 | rs201850303 | 0.4224 | None | gnomAD-3.1.2 | 7.23E-05 | |
32742 | 35 | G/D | 52 | rs201850303 | 0.4224 | None | 1000 genomes | 1.99681E-04 | |
32742 | 35 | G/D | 52 | rs201850303 | 0.4224 | None | gnomAD-4.0.0 | 1.85893E-05 | |
32742 | 35 | G/V | 52 | None | 0.4224 | None | gnomAD-4.0.0 | 6.84201E-07 | |
32743 | 36 | Q/R | 55 | rs931997387 | 0.7732 | None | gnomAD-3.1.2 | 1.31E-05 | |
32743 | 36 | Q/R | 55 | rs931997387 | 0.7732 | None | gnomAD-4.0.0 | 1.31409E-05 | |
32744 | 37 | D/G | 56 | rs1177553110 | 0.6012 | None | gnomAD-2.1.1 | 3.18E-05 | |
32744 | 37 | D/G | 56 | rs1177553110 | 0.6012 | None | gnomAD-3.1.2 | 6.57E-06 | |
32744 | 37 | D/G | 56 | rs1177553110 | 0.6012 | None | gnomAD-4.0.0 | 4.33773E-06 | |
32744 | 37 | D/N | 56 | None | 0.6012 | None | gnomAD-4.0.0 | 1.59121E-06 | |
32744 | 37 | D/V | 56 | rs1177553110 | 0.6012 | None | gnomAD-2.1.1 | 4.02E-06 | |
32744 | 37 | D/V | 56 | rs1177553110 | 0.6012 | None | gnomAD-4.0.0 | 6.84201E-07 | |
32746 | 39 | S/G | 59 | rs1414547750 | 0.4198 | None | gnomAD-2.1.1 | 4.02E-06 | |
32746 | 39 | S/N | 59 | rs1410694267 | 0.4198 | None | gnomAD-2.1.1 | 8.04E-06 | |
32746 | 39 | S/N | 59 | rs1410694267 | 0.4198 | None | gnomAD-3.1.2 | 1.31E-05 | |
32746 | 39 | S/N | 59 | rs1410694267 | 0.4198 | None | gnomAD-4.0.0 | 1.30131E-05 | |
32748 | 41 | R/C | 115 | rs72648272 | 0.3102 | None | gnomAD-2.1.1 | 3.97485E-03 | |
32748 | 41 | R/C | 115 | rs72648272 | 0.3102 | None | gnomAD-3.1.2 | 3.6019E-03 | |
32748 | 41 | R/C | 115 | rs72648272 | 0.3102 | None | 1000 genomes | 1.39776E-03 | |
32748 | 41 | R/C | 115 | rs72648272 | 0.3102 | None | gnomAD-4.0.0 | 3.45949E-03 | |
32748 | 41 | R/H | 115 | rs397517775 | 0.3102 | None | gnomAD-2.1.1 | 6.42E-05 | |
32748 | 41 | R/H | 115 | rs397517775 | 0.3102 | None | gnomAD-3.1.2 | 7.23E-05 | |
32748 | 41 | R/H | 115 | rs397517775 | 0.3102 | None | gnomAD-4.0.0 | 6.19649E-05 | |
32749 | 42 | A/T | 121 | rs1693506739 | 0.1145 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32750 | 43 | M/I | 122 | None | 0.6341 | None | gnomAD-4.0.0 | 2.40064E-06 | |
32750 | 43 | M/V | 122 | rs771143872 | 0.6341 | None | gnomAD-2.1.1 | 4.02E-06 | |
32750 | 43 | M/V | 122 | rs771143872 | 0.6341 | None | gnomAD-4.0.0 | 5.47356E-06 | |
32751 | 44 | I/T | 123 | rs746586029 | 0.3428 | None | gnomAD-2.1.1 | 1.78E-05 | |
32751 | 44 | I/T | 123 | rs746586029 | 0.3428 | None | gnomAD-3.1.2 | 3.29E-05 | |
32751 | 44 | I/T | 123 | rs746586029 | 0.3428 | None | gnomAD-4.0.0 | 3.71817E-05 | |
32752 | 45 | A/T | 125 | rs1239140833 | 0.4146 | None | gnomAD-2.1.1 | 4.02E-06 | |
32752 | 45 | A/T | 125 | rs1239140833 | 0.4146 | None | gnomAD-4.0.0 | 3.18241E-06 | |
32752 | 45 | A/V | 125 | rs778166587 | 0.4146 | None | gnomAD-2.1.1 | 8.04E-06 | |
32752 | 45 | A/V | 125 | rs778166587 | 0.4146 | None | gnomAD-4.0.0 | 2.05259E-06 | |
32754 | 47 | S/C | 130 | rs192952263 | 0.2504 | None | gnomAD-3.1.2 | 6.57E-06 | |
32754 | 47 | S/C | 130 | rs192952263 | 0.2504 | None | 1000 genomes | 1.99681E-04 | |
32754 | 47 | S/C | 130 | rs192952263 | 0.2504 | None | gnomAD-4.0.0 | 2.02969E-06 | |
32756 | 49 | T/I | 134 | rs199805060 | 0.5118 | None | gnomAD-2.1.1 | 4.53225E-04 | |
32756 | 49 | T/I | 134 | rs199805060 | 0.5118 | None | gnomAD-3.1.2 | 1.34741E-03 | |
32756 | 49 | T/I | 134 | rs199805060 | 0.5118 | None | 1000 genomes | 9.98403E-04 | |
32756 | 49 | T/I | 134 | rs199805060 | 0.5118 | None | gnomAD-4.0.0 | 2.44759E-04 | |
32756 | 49 | T/P | 134 | None | 0.5118 | None | gnomAD-4.0.0 | 4.80129E-06 | |
32757 | 50 | H/N | 135 | rs1438849988 | 0.3967 | None | gnomAD-2.1.1 | 3.19E-05 | |
32757 | 50 | H/N | 135 | rs1438849988 | 0.3967 | None | gnomAD-3.1.2 | 6.57E-06 | |
32757 | 50 | H/N | 135 | rs1438849988 | 0.3967 | None | gnomAD-4.0.0 | 3.0449E-06 | |
32759 | 52 | E/K | 137 | rs748573833 | 0.3314 | None | gnomAD-2.1.1 | 8.04E-06 | |
32759 | 52 | E/K | 137 | rs748573833 | 0.3314 | None | gnomAD-4.0.0 | 3.18233E-06 | |
32760 | 53 | L/F | 138 | rs1060500523 | 0.0804 | None | gnomAD-2.1.1 | 3.19E-05 | |
32760 | 53 | L/F | 138 | rs1060500523 | 0.0804 | None | gnomAD-3.1.2 | 1.31E-05 | |
32760 | 53 | L/F | 138 | rs1060500523 | 0.0804 | None | gnomAD-4.0.0 | 3.84332E-06 | |
32762 | 55 | I/M | 140 | rs794729550 | 0.0876 | None | gnomAD-4.0.0 | 5.47355E-06 | |
32762 | 55 | I/N | 140 | None | 0.0876 | None | gnomAD-4.0.0 | 1.59118E-06 | |
32763 | 56 | K/R | 141 | rs879242471 | 0.7143 | None | gnomAD-2.1.1 | 8.04E-06 | |
32763 | 56 | K/R | 141 | rs879242471 | 0.7143 | None | gnomAD-3.1.2 | 1.97E-05 | |
32763 | 56 | K/R | 141 | rs879242471 | 0.7143 | None | gnomAD-4.0.0 | 4.33772E-06 | |
32764 | 57 | E/A | 143 | None | 0.7922 | None | gnomAD-2.1.1 | 4.02E-06 | |
32764 | 57 | E/A | 143 | None | 0.7922 | None | gnomAD-3.1.2 | 6.57E-06 | |
32764 | 57 | E/A | 143 | None | 0.7922 | None | gnomAD-4.0.0 | 5.12407E-06 | |
32764 | 57 | E/G | 143 | rs755276825 | 0.7922 | None | gnomAD-2.1.1 | 8.04E-06 | |
32764 | 57 | E/G | 143 | rs755276825 | 0.7922 | None | gnomAD-3.1.2 | 6.57E-06 | |
32764 | 57 | E/G | 143 | rs755276825 | 0.7922 | None | gnomAD-4.0.0 | 3.84305E-06 | |
32764 | 57 | E/K | 143 | rs781604869 | 0.7922 | None | gnomAD-2.1.1 | 8.04E-06 | |
32764 | 57 | E/K | 143 | rs781604869 | 0.7922 | None | gnomAD-3.1.2 | 6.57E-06 | |
32764 | 57 | E/K | 143 | rs781604869 | 0.7922 | None | gnomAD-4.0.0 | 7.6862E-06 | |
32765 | 58 | A/G | 144 | rs72648273 | 0.0935 | None | gnomAD-2.1.1 | 2.97035E-03 | |
32765 | 58 | A/G | 144 | rs72648273 | 0.0935 | None | gnomAD-3.1.2 | 2.47186E-03 | |
32765 | 58 | A/G | 144 | rs72648273 | 0.0935 | None | 1000 genomes | 9.98403E-04 | |
32765 | 58 | A/G | 144 | rs72648273 | 0.0935 | None | gnomAD-4.0.0 | 2.89938E-03 | |
32765 | 58 | A/T | 144 | rs971287235 | 0.0935 | None | gnomAD-3.1.2 | 6.57E-06 | |
32765 | 58 | A/T | 144 | rs971287235 | 0.0935 | None | gnomAD-4.0.0 | 6.57272E-06 | |
32766 | 59 | D/Y | 145 | rs727504449 | 0.2908 | None | gnomAD-2.1.1 | 4.02E-06 | |
32767 | 60 | R/S | 146 | rs995110630 | 0.5130 | None | gnomAD-2.1.1 | 8.04E-06 | |
32767 | 60 | R/S | 146 | rs995110630 | 0.5130 | None | gnomAD-4.0.0 | 1.3684E-06 | |
32768 | 61 | G/V | 148 | None | 0.3478 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32769 | 62 | D/Y | 149 | rs564151542 | 0.1333 | None | gnomAD-2.1.1 | 4.02E-06 | |
32769 | 62 | D/Y | 149 | rs564151542 | 0.1333 | None | gnomAD-3.1.2 | 6.57E-06 | |
32769 | 62 | D/Y | 149 | rs564151542 | 0.1333 | None | 1000 genomes | 1.99681E-04 | |
32769 | 62 | D/Y | 149 | rs564151542 | 0.1333 | None | gnomAD-4.0.0 | 6.56711E-06 | |
32770 | 63 | S/C | 151 | rs760728887 | 0.2084 | None | gnomAD-2.1.1 | 4.02E-06 | |
32770 | 63 | S/C | 151 | rs760728887 | 0.2084 | None | gnomAD-4.0.0 | 1.59118E-06 | |
32771 | 64 | G/D | 152 | None | 0.1891 | None | gnomAD-4.0.0 | 2.40065E-06 | |
32772 | 65 | T/I | 153 | rs1163729764 | 0.3030 | None | gnomAD-2.1.1 | 1.21E-05 | |
32772 | 65 | T/I | 153 | rs1163729764 | 0.3030 | None | gnomAD-4.0.0 | 4.77359E-06 | |
32773 | 66 | Y/C | 154 | rs1693456839 | 0.1171 | None | gnomAD-3.1.2 | 6.57E-06 | |
32773 | 66 | Y/C | 154 | rs1693456839 | 0.1171 | None | gnomAD-4.0.0 | 6.57341E-06 | |
32774 | 67 | D/E | 155 | rs767435784 | 0.1580 | None | gnomAD-2.1.1 | 4.02E-06 | |
32774 | 67 | D/E | 155 | rs767435784 | 0.1580 | None | gnomAD-4.0.0 | 1.5912E-06 | |
32774 | 67 | D/V | 155 | None | 0.1580 | None | gnomAD-4.0.0 | 1.59119E-06 | |
32775 | 68 | L/M | 156 | None | 0.0901 | None | gnomAD-4.0.0 | 6.84202E-07 | |
32776 | 69 | V/L | 157 | None | 0.3354 | None | gnomAD-4.0.0 | 1.08029E-05 | |
32777 | 70 | L/R | 158 | rs1553510213 | 0.1093 | None | gnomAD-4.0.0 | 2.40064E-06 | |
32778 | 71 | E/K | 159 | rs771233778 | 0.3420 | None | gnomAD-2.1.1 | 8.05E-06 | |
32778 | 71 | E/K | 159 | rs771233778 | 0.3420 | None | gnomAD-4.0.0 | 4.77374E-06 | |
32780 | 73 | K/E | 162 | rs755409666 | 0.4822 | None | gnomAD-4.0.0 | 3.42099E-06 | |
32781 | 74 | C/R | 163 | rs562178341 | 0.1979 | None | gnomAD-2.1.1 | 2.49539E-04 | |
32781 | 74 | C/R | 163 | rs562178341 | 0.1979 | None | gnomAD-3.1.2 | 3.95E-05 | |
32781 | 74 | C/R | 163 | rs562178341 | 0.1979 | None | 1000 genomes | 1.99681E-04 | |
32781 | 74 | C/R | 163 | rs562178341 | 0.1979 | None | gnomAD-4.0.0 | 1.20223E-04 | |
32781 | 74 | C/Y | 163 | rs1252559965 | 0.1979 | None | gnomAD-3.1.2 | 1.97E-05 | |
32781 | 74 | C/Y | 163 | rs1252559965 | 0.1979 | None | gnomAD-4.0.0 | 8.96764E-06 | |
32785 | 78 | A/G | 168 | None | 0.2755 | None | gnomAD-4.0.0 | 1.36844E-06 | |
32785 | 78 | A/V | 168 | rs2154140130 | 0.2755 | None | gnomAD-4.0.0 | 2.05266E-06 | |
32786 | 79 | V/A | 169 | rs1170766154 | 0.1375 | None | gnomAD-3.1.2 | 6.57E-06 | |
32786 | 79 | V/A | 169 | rs1170766154 | 0.1375 | None | gnomAD-4.0.0 | 2.02998E-06 | |
32786 | 79 | V/I | 169 | rs1206930199 | 0.1375 | None | gnomAD-2.1.1 | 4.03E-06 | |
32786 | 79 | V/I | 169 | rs1206930199 | 0.1375 | None | gnomAD-4.0.0 | 1.59124E-06 | |
32787 | 80 | Y/C | 171 | rs1419941913 | 0.6942 | None | gnomAD-3.1.2 | 6.57E-06 | |
32787 | 80 | Y/C | 171 | rs1419941913 | 0.6942 | None | gnomAD-4.0.0 | 6.57082E-06 | |
32787 | 80 | Y/F | 171 | None | 0.6942 | None | gnomAD-4.0.0 | 3.18253E-06 | |
32789 | 82 | K/Q | 173 | rs769760458 | 0.7875 | None | gnomAD-2.1.1 | 4.03E-06 | |
32789 | 82 | K/Q | 173 | rs769760458 | 0.7875 | None | gnomAD-4.0.0 | 3.18251E-06 | |
32789 | 82 | K/R | 173 | rs748701203 | 0.7875 | None | gnomAD-2.1.1 | 1.28736E-04 | |
32789 | 82 | K/R | 173 | rs748701203 | 0.7875 | None | gnomAD-3.1.2 | 9.2E-05 | |
32789 | 82 | K/R | 173 | rs748701203 | 0.7875 | None | gnomAD-4.0.0 | 5.14363E-05 | |
32791 | 84 | R/S | 175 | None | 0.6304 | None | gnomAD-4.0.0 | 6.84227E-07 | |
32791 | 84 | R/T | 175 | None | 0.6304 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32792 | 85 | V/A | 177 | rs747325715 | 0.1028 | None | gnomAD-2.1.1 | 4.03E-06 | |
32792 | 85 | V/A | 177 | rs747325715 | 0.1028 | None | gnomAD-4.0.0 | 3.18285E-06 | |
32792 | 85 | V/L | 177 | None | 0.1028 | None | gnomAD-4.0.0 | 6.84236E-07 | |
32792 | 85 | V/M | 177 | None | 0.1028 | None | gnomAD-4.0.0 | 6.84236E-07 |