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P | V | D | P | P | G | K | P | E | V | I | D | V | T | K | S | T | V | S | L | I | W | A | R | P | K | H | D | G | G | S | K | I | I | G | Y | F | V | E | A | C | K | L | P | G | D | K | W | V | R | C | N | T | A | P | H | Q | I | P | Q | E | E | Y | T | A | T | G | L | E | E | K | A | Q | Y | Q | F | R | A | I | A | R | T | A | V | N | I | S | P | P | S | E | P | S | D | P | V | T | I | L | A | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
21757 | 1 | P/S | 1 | rs1166497792 | 0.9674 | None | gnomAD-3.1.2 | 6.58E-06 | |
21757 | 1 | P/S | 1 | rs1166497792 | 0.9674 | None | gnomAD-4.0.0 | 1.53155E-05 | |
21757 | 1 | P/T | 1 | rs1166497792 | 0.9674 | None | gnomAD-3.1.2 | 1.32E-05 | |
21757 | 1 | P/T | 1 | rs1166497792 | 0.9674 | None | gnomAD-4.0.0 | 4.17695E-06 | |
21758 | 2 | V/A | 2 | None | 0.1506 | None | gnomAD-4.0.0 | 1.76645E-06 | |
21758 | 2 | V/F | 2 | rs1394549346 | 0.1506 | None | gnomAD-3.1.2 | 6.58E-06 | |
21758 | 2 | V/F | 2 | rs1394549346 | 0.1506 | None | gnomAD-4.0.0 | 1.93389E-06 | |
21759 | 3 | D/E | 3 | None | 0.2708 | None | gnomAD-4.0.0 | 7.11632E-07 | |
21759 | 3 | D/G | 3 | rs775903390 | 0.2708 | None | gnomAD-2.1.1 | 5.32E-06 | |
21759 | 3 | D/G | 3 | rs775903390 | 0.2708 | None | gnomAD-3.1.2 | 6.58E-06 | |
21759 | 3 | D/G | 3 | rs775903390 | 0.2708 | None | gnomAD-4.0.0 | 3.2175E-06 | |
21759 | 3 | D/V | 3 | rs775903390 | 0.2708 | None | gnomAD-2.1.1 | 5.32E-05 | |
21760 | 4 | P/L | 4 | rs1236566550 | 0.3152 | None | gnomAD-4.0.0 | 4.96751E-06 | |
21760 | 4 | P/R | 4 | None | 0.3152 | None | gnomAD-4.0.0 | 7.09636E-07 | |
21760 | 4 | P/T | 4 | None | 0.3152 | None | gnomAD-4.0.0 | 2.85383E-06 | |
21761 | 5 | P/S | 5 | rs762680180 | 0.1149 | None | gnomAD-2.1.1 | 1.98E-05 | |
21761 | 5 | P/S | 5 | rs762680180 | 0.1149 | None | gnomAD-4.0.0 | 1.13205E-05 | |
21762 | 6 | G/R | 6 | rs772939753 | 0.2164 | None | gnomAD-2.1.1 | 1.93E-05 | |
21763 | 7 | K/E | 7 | rs769574243 | 0.2993 | None | gnomAD-2.1.1 | 4.71E-06 | |
21763 | 7 | K/E | 7 | rs769574243 | 0.2993 | None | gnomAD-3.1.2 | 6.58E-06 | |
21763 | 7 | K/E | 7 | rs769574243 | 0.2993 | None | gnomAD-4.0.0 | 6.57713E-06 | |
21763 | 7 | K/Q | 7 | None | 0.2993 | None | gnomAD-4.0.0 | 7.03354E-07 | |
21763 | 7 | K/T | 7 | None | 0.2993 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21765 | 9 | E/A | 11 | rs1430045391 | 0.6991 | None | gnomAD-2.1.1 | 4.49E-06 | |
21765 | 9 | E/A | 11 | rs1430045391 | 0.6991 | None | gnomAD-4.0.0 | 6.98304E-06 | |
21766 | 10 | V/F | 12 | None | 0.3344 | None | gnomAD-4.0.0 | 1.66925E-06 | |
21767 | 11 | I/T | 13 | rs762578274 | 0.4424 | None | gnomAD-2.1.1 | 2.31E-05 | |
21767 | 11 | I/T | 13 | rs762578274 | 0.4424 | None | gnomAD-3.1.2 | 1.97E-05 | |
21767 | 11 | I/T | 13 | rs762578274 | 0.4424 | None | gnomAD-4.0.0 | 3.26701E-05 | |
21768 | 12 | D/A | 14 | rs1171277318 | 0.5050 | None | gnomAD-2.1.1 | 4.38E-06 | |
21768 | 12 | D/A | 14 | rs1171277318 | 0.5050 | None | gnomAD-4.0.0 | 1.64911E-06 | |
21768 | 12 | D/H | 14 | rs896934140 | 0.5050 | None | gnomAD-4.0.0 | 1.38996E-06 | |
21768 | 12 | D/N | 14 | None | 0.5050 | None | gnomAD-4.0.0 | 6.94979E-07 | |
21768 | 12 | D/Y | 14 | None | 0.5050 | None | gnomAD-4.0.0 | 6.94981E-07 | |
21769 | 13 | V/I | 15 | rs1426502571 | 0.1894 | None | gnomAD-2.1.1 | 4.35E-06 | |
21769 | 13 | V/I | 15 | rs1426502571 | 0.1894 | None | gnomAD-4.0.0 | 1.64784E-06 | |
21770 | 14 | T/S | 16 | None | 0.3075 | None | gnomAD-4.0.0 | 1.63093E-06 | |
21772 | 16 | S/I | 18 | None | 0.3787 | None | gnomAD-4.0.0 | 6.90467E-07 | |
21772 | 16 | S/N | 18 | rs768613983 | 0.3787 | None | gnomAD-2.1.1 | 8.5E-06 | |
21772 | 16 | S/N | 18 | rs768613983 | 0.3787 | None | gnomAD-4.0.0 | 4.83327E-06 | |
21774 | 18 | V/A | 20 | None | 0.0956 | None | gnomAD-4.0.0 | 3.60097E-06 | |
21775 | 19 | S/F | 21 | None | 0.1910 | None | gnomAD-4.0.0 | 4.8259E-06 | |
21775 | 19 | S/T | 21 | rs2048324718 | 0.1910 | None | gnomAD-4.0.0 | 1.60846E-06 | |
21776 | 20 | L/M | 22 | None | 0.0983 | None | gnomAD-4.0.0 | 1.60625E-06 | |
21777 | 21 | I/M | 23 | rs779897187 | 0.3573 | None | gnomAD-2.1.1 | 4.17E-06 | |
21777 | 21 | I/M | 23 | rs779897187 | 0.3573 | None | gnomAD-4.0.0 | 1.60484E-06 | |
21779 | 23 | A/V | 25 | rs758250372 | 0.4323 | None | gnomAD-2.1.1 | 1.47E-05 | |
21779 | 23 | A/V | 25 | rs758250372 | 0.4323 | None | gnomAD-3.1.2 | 1.32E-05 | |
21779 | 23 | A/V | 25 | rs758250372 | 0.4323 | None | gnomAD-4.0.0 | 8.70395E-06 | |
21780 | 24 | R/C | 26 | rs745681257 | 0.4370 | None | gnomAD-2.1.1 | 1.47E-05 | |
21780 | 24 | R/C | 26 | rs745681257 | 0.4370 | None | gnomAD-3.1.2 | 6.58E-06 | |
21780 | 24 | R/C | 26 | rs745681257 | 0.4370 | None | gnomAD-4.0.0 | 1.30546E-05 | |
21780 | 24 | R/H | 26 | rs779044914 | 0.4370 | None | gnomAD-2.1.1 | 1.66E-05 | |
21780 | 24 | R/H | 26 | rs779044914 | 0.4370 | None | gnomAD-3.1.2 | 6.58E-06 | |
21780 | 24 | R/H | 26 | rs779044914 | 0.4370 | None | gnomAD-4.0.0 | 1.05671E-05 | |
21783 | 27 | H/R | 29 | rs1223104137 | 0.6165 | None | gnomAD-3.1.2 | 6.57E-06 | |
21783 | 27 | H/R | 29 | rs1223104137 | 0.6165 | None | gnomAD-4.0.0 | 3.86359E-06 | |
21785 | 29 | G/E | 31 | None | 0.3831 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21786 | 30 | G/C | 32 | None | 0.6291 | None | gnomAD-4.0.0 | 6.86059E-07 | |
21787 | 31 | S/N | 33 | rs1290046297 | 0.3762 | None | gnomAD-3.1.2 | 6.58E-06 | |
21787 | 31 | S/N | 33 | rs1290046297 | 0.3762 | None | gnomAD-4.0.0 | 6.57661E-06 | |
21788 | 32 | K/I | 34 | None | 0.9401 | None | gnomAD-4.0.0 | 2.40064E-06 | |
21788 | 32 | K/N | 34 | None | 0.9401 | None | gnomAD-4.0.0 | 3.20148E-06 | |
21788 | 32 | K/T | 34 | rs1330714909 | 0.9401 | None | gnomAD-3.1.2 | 1.32E-05 | |
21788 | 32 | K/T | 34 | rs1330714909 | 0.9401 | None | gnomAD-4.0.0 | 1.31546E-05 | |
21789 | 33 | I/T | 35 | rs2048319290 | 0.1528 | None | gnomAD-4.0.0 | 1.12037E-05 | |
21789 | 33 | I/V | 35 | None | 0.1528 | None | gnomAD-4.0.0 | 1.60089E-06 | |
21790 | 34 | I/M | 36 | rs764130758 | 0.2900 | None | gnomAD-2.1.1 | 4.13E-06 | |
21790 | 34 | I/M | 36 | rs764130758 | 0.2900 | None | gnomAD-4.0.0 | 1.60047E-06 | |
21790 | 34 | I/T | 36 | rs727503580 | 0.2900 | None | gnomAD-2.1.1 | 1.24E-05 | |
21790 | 34 | I/T | 36 | rs727503580 | 0.2900 | None | gnomAD-3.1.2 | 1.32E-05 | |
21790 | 34 | I/T | 36 | rs727503580 | 0.2900 | None | gnomAD-4.0.0 | 1.1584E-05 | |
21791 | 35 | G/C | 37 | None | 0.0797 | None | gnomAD-4.0.0 | 4.80176E-06 | |
21791 | 35 | G/S | 37 | rs370878527 | 0.0797 | None | gnomAD-2.1.1 | 2.19E-05 | |
21791 | 35 | G/S | 37 | rs370878527 | 0.0797 | None | gnomAD-3.1.2 | 3.95E-05 | |
21791 | 35 | G/S | 37 | rs370878527 | 0.0797 | None | gnomAD-4.0.0 | 6.21193E-05 | |
21792 | 36 | Y/C | 38 | None | 0.0738 | None | gnomAD-4.0.0 | 7.20193E-06 | |
21794 | 38 | V/A | 40 | rs2154179261 | 0.0966 | None | gnomAD-4.0.0 | 2.05753E-06 | |
21794 | 38 | V/I | 40 | None | 0.0966 | None | gnomAD-2.1.1 | 2.19E-05 | |
21794 | 38 | V/I | 40 | None | 0.0966 | None | gnomAD-3.1.2 | 2.63E-05 | |
21794 | 38 | V/I | 40 | None | 0.0966 | None | gnomAD-4.0.0 | 2.67106E-05 | |
21794 | 38 | V/L | 40 | rs373848128 | 0.0966 | None | gnomAD-2.1.1 | 1.46E-05 | |
21794 | 38 | V/L | 40 | rs373848128 | 0.0966 | None | gnomAD-3.1.2 | 6.58E-06 | |
21794 | 38 | V/L | 40 | rs373848128 | 0.0966 | None | gnomAD-4.0.0 | 6.85958E-07 | |
21796 | 40 | A/V | 42 | rs752002587 | 0.1198 | None | gnomAD-2.1.1 | 4.12E-06 | |
21796 | 40 | A/V | 42 | rs752002587 | 0.1198 | None | gnomAD-4.0.0 | 1.60002E-06 | |
21797 | 41 | C/F | 43 | rs886042894 | 0.0851 | None | gnomAD-4.0.0 | 4.80084E-06 | |
21797 | 41 | C/G | 43 | rs375830234 | 0.0851 | None | gnomAD-2.1.1 | 6.17E-05 | |
21797 | 41 | C/G | 43 | rs375830234 | 0.0851 | None | gnomAD-3.1.2 | 5.92E-05 | |
21797 | 41 | C/G | 43 | rs375830234 | 0.0851 | None | gnomAD-4.0.0 | 5.15397E-05 | |
21797 | 41 | C/Y | 43 | rs886042894 | 0.0851 | None | gnomAD-4.0.0 | 2.0575E-06 | |
21798 | 42 | K/T | 44 | rs776173264 | 0.3300 | None | gnomAD-2.1.1 | 4.11E-06 | |
21799 | 43 | L/P | 50 | rs1260259069 | 0.3388 | None | gnomAD-2.1.1 | 4.1E-06 | |
21799 | 43 | L/P | 50 | rs1260259069 | 0.3388 | None | gnomAD-4.0.0 | 1.59838E-06 | |
21799 | 43 | L/R | 50 | None | 0.3388 | None | gnomAD-4.0.0 | 3.19676E-06 | |
21800 | 44 | P/S | 54 | rs760650311 | 0.9800 | None | gnomAD-4.0.0 | 2.74218E-06 | |
21800 | 44 | P/T | 54 | rs760650311 | 0.9800 | None | gnomAD-2.1.1 | 8.21E-06 | |
21800 | 44 | P/T | 54 | rs760650311 | 0.9800 | None | gnomAD-4.0.0 | 2.74218E-06 | |
21801 | 45 | G/D | 60 | None | 0.4058 | None | gnomAD-4.0.0 | 1.59823E-06 | |
21802 | 46 | D/E | 63 | rs1228795197 | 0.9675 | None | gnomAD-2.1.1 | 4.1E-06 | |
21802 | 46 | D/E | 63 | rs1228795197 | 0.9675 | None | gnomAD-4.0.0 | 1.59782E-06 | |
21803 | 47 | K/R | 64 | None | 0.7760 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21803 | 47 | K/T | 64 | rs2048309985 | 0.7760 | None | gnomAD-3.1.2 | 6.58E-06 | |
21803 | 47 | K/T | 64 | rs2048309985 | 0.7760 | None | gnomAD-4.0.0 | 6.57549E-06 | |
21804 | 48 | W/C | 65 | None | 0.2643 | None | gnomAD-4.0.0 | 3.19517E-06 | |
21804 | 48 | W/R | 65 | rs745626132 | 0.2643 | None | gnomAD-2.1.1 | 2.86E-05 | |
21804 | 48 | W/R | 65 | rs745626132 | 0.2643 | None | gnomAD-3.1.2 | 6.58E-06 | |
21804 | 48 | W/R | 65 | rs745626132 | 0.2643 | None | gnomAD-4.0.0 | 6.8532E-07 | |
21805 | 49 | V/E | 66 | None | 0.5640 | None | gnomAD-4.0.0 | 2.40064E-06 | |
21805 | 49 | V/I | 66 | None | 0.5640 | None | gnomAD-4.0.0 | 1.597E-06 | |
21806 | 50 | R/P | 67 | rs771120053 | 0.2949 | None | gnomAD-4.0.0 | 6.85245E-07 | |
21806 | 50 | R/Q | 67 | rs771120053 | 0.2949 | None | gnomAD-2.1.1 | 1.22E-05 | |
21806 | 50 | R/Q | 67 | rs771120053 | 0.2949 | None | gnomAD-3.1.2 | 6.58E-06 | |
21806 | 50 | R/Q | 67 | rs771120053 | 0.2949 | None | gnomAD-4.0.0 | 5.58548E-06 | |
21806 | 50 | R/W | 67 | rs778703530 | 0.2949 | None | gnomAD-2.1.1 | 8.33E-05 | |
21806 | 50 | R/W | 67 | rs778703530 | 0.2949 | None | gnomAD-3.1.2 | 8.55E-05 | |
21806 | 50 | R/W | 67 | rs778703530 | 0.2949 | None | gnomAD-4.0.0 | 8.81411E-05 | |
21807 | 51 | C/R | 68 | rs1199010062 | 0.2638 | None | gnomAD-2.1.1 | 3.19E-05 | |
21807 | 51 | C/R | 68 | rs1199010062 | 0.2638 | None | gnomAD-3.1.2 | 6.58E-06 | |
21807 | 51 | C/R | 68 | rs1199010062 | 0.2638 | None | gnomAD-4.0.0 | 3.72331E-06 | |
21807 | 51 | C/Y | 68 | rs749514907 | 0.2638 | None | gnomAD-2.1.1 | 1.22E-05 | |
21807 | 51 | C/Y | 68 | rs749514907 | 0.2638 | None | gnomAD-4.0.0 | 4.79661E-06 | |
21808 | 52 | N/D | 69 | rs1160479149 | 0.1085 | None | gnomAD-2.1.1 | 4.07E-06 | |
21808 | 52 | N/D | 69 | rs1160479149 | 0.1085 | None | gnomAD-4.0.0 | 2.05526E-06 | |
21808 | 52 | N/H | 69 | rs1160479149 | 0.1085 | None | gnomAD-2.1.1 | 4.07E-06 | |
21808 | 52 | N/H | 69 | rs1160479149 | 0.1085 | None | gnomAD-4.0.0 | 6.85088E-07 | |
21808 | 52 | N/S | 69 | rs777905598 | 0.1085 | None | gnomAD-2.1.1 | 4.07E-06 | |
21808 | 52 | N/S | 69 | rs777905598 | 0.1085 | None | gnomAD-4.0.0 | 1.59598E-06 | |
21809 | 53 | T/I | 70 | rs756088419 | 0.8814 | None | gnomAD-2.1.1 | 8.14E-06 | |
21809 | 53 | T/I | 70 | rs756088419 | 0.8814 | None | gnomAD-4.0.0 | 1.37023E-06 | |
21809 | 53 | T/N | 70 | None | 0.8814 | None | gnomAD-3.1.2 | 6.58E-06 | |
21809 | 53 | T/N | 70 | None | 0.8814 | None | gnomAD-4.0.0 | 1.86144E-06 | |
21809 | 53 | T/S | 70 | rs756088419 | 0.8814 | None | gnomAD-2.1.1 | 4.07E-06 | |
21809 | 53 | T/S | 70 | rs756088419 | 0.8814 | None | gnomAD-4.0.0 | 1.37023E-06 | |
21810 | 54 | A/P | 72 | None | 0.1527 | None | gnomAD-4.0.0 | 6.85079E-07 | |
21810 | 54 | A/T | 72 | rs752825084 | 0.1527 | None | gnomAD-2.1.1 | 4.07E-06 | |
21810 | 54 | A/T | 72 | rs752825084 | 0.1527 | None | gnomAD-4.0.0 | 6.85079E-07 | |
21810 | 54 | A/V | 72 | rs2048304433 | 0.1527 | None | gnomAD-3.1.2 | 6.58E-06 | |
21810 | 54 | A/V | 72 | rs2048304433 | 0.1527 | None | gnomAD-4.0.0 | 1.24088E-06 | |
21811 | 55 | P/S | 73 | rs1424664692 | 0.1026 | None | gnomAD-2.1.1 | 4.06E-06 | |
21811 | 55 | P/S | 73 | rs1424664692 | 0.1026 | None | gnomAD-4.0.0 | 1.37006E-06 | |
21812 | 56 | H/N | 74 | rs267599042 | 0.5360 | None | gnomAD-2.1.1 | 4.06E-06 | |
21812 | 56 | H/N | 74 | rs267599042 | 0.5360 | None | gnomAD-4.0.0 | 3.19077E-06 | |
21814 | 58 | I/T | 77 | rs781750612 | 0.0675 | None | gnomAD-2.1.1 | 4.05E-06 | |
21816 | 60 | Q/L | 88 | None | 0.6469 | None | gnomAD-4.0.0 | 6.84874E-07 | |
21817 | 61 | E/K | 89 | rs751947173 | 0.1488 | None | gnomAD-2.1.1 | 1.08E-05 | |
21817 | 61 | E/K | 89 | rs751947173 | 0.1488 | None | gnomAD-3.1.2 | 6.58E-06 | |
21817 | 61 | E/K | 89 | rs751947173 | 0.1488 | None | gnomAD-4.0.0 | 2.48111E-06 | |
21820 | 64 | T/I | 92 | rs56130023 | 0.3462 | None | gnomAD-2.1.1 | 9.87908E-04 | |
21820 | 64 | T/I | 92 | rs56130023 | 0.3462 | None | gnomAD-3.1.2 | 7.82462E-04 | |
21820 | 64 | T/I | 92 | rs56130023 | 0.3462 | None | 1000 genomes | 1.19808E-03 | |
21820 | 64 | T/I | 92 | rs56130023 | 0.3462 | None | gnomAD-4.0.0 | 5.99741E-04 | |
21821 | 65 | A/P | 93 | None | 0.0948 | None | gnomAD-4.0.0 | 1.59462E-06 | |
21821 | 65 | A/T | 93 | rs2048299727 | 0.0948 | None | gnomAD-4.0.0 | 1.59462E-06 | |
21821 | 65 | A/V | 93 | rs1398162885 | 0.0948 | None | gnomAD-3.1.2 | 6.58E-06 | |
21821 | 65 | A/V | 93 | rs1398162885 | 0.0948 | None | gnomAD-4.0.0 | 6.09034E-06 | |
21823 | 67 | G/D | 96 | None | 0.5580 | None | gnomAD-4.0.0 | 1.59466E-06 | |
21826 | 70 | E/K | 99 | rs763824247 | 0.4356 | None | gnomAD-2.1.1 | 4.04E-06 | |
21826 | 70 | E/K | 99 | rs763824247 | 0.4356 | None | gnomAD-4.0.0 | 3.18899E-06 | |
21827 | 71 | K/Q | 100 | None | 0.7350 | None | gnomAD-4.0.0 | 1.59444E-06 | |
21828 | 72 | A/G | 102 | None | 0.1625 | None | gnomAD-4.0.0 | 6.84825E-06 | |
21828 | 72 | A/T | 102 | rs1294321352 | 0.1625 | None | gnomAD-4.0.0 | 1.59466E-06 | |
21828 | 72 | A/V | 102 | None | 0.1625 | None | gnomAD-4.0.0 | 6.84825E-07 | |
21829 | 73 | Q/E | 103 | None | 0.3859 | None | gnomAD-4.0.0 | 1.36967E-06 | |
21829 | 73 | Q/R | 103 | rs886038921 | 0.3859 | None | gnomAD-2.1.1 | 8.09E-06 | |
21829 | 73 | Q/R | 103 | rs886038921 | 0.3859 | None | gnomAD-4.0.0 | 3.18916E-06 | |
21832 | 76 | F/L | 106 | rs1366676743 | 0.1210 | None | gnomAD-2.1.1 | 1.21E-05 | |
21832 | 76 | F/L | 106 | rs1366676743 | 0.1210 | None | gnomAD-4.0.0 | 3.18942E-06 | |
21832 | 76 | F/S | 106 | None | 0.1210 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21833 | 77 | R/T | 107 | None | 0.1533 | None | gnomAD-4.0.0 | 1.59485E-06 | |
21834 | 78 | A/G | 108 | None | 0.0821 | None | gnomAD-4.0.0 | 6.84853E-07 | |
21834 | 78 | A/T | 108 | rs374874879 | 0.0821 | None | gnomAD-2.1.1 | 8.09E-06 | |
21834 | 78 | A/T | 108 | rs374874879 | 0.0821 | None | gnomAD-3.1.2 | 6.58E-06 | |
21834 | 78 | A/T | 108 | rs374874879 | 0.0821 | None | gnomAD-4.0.0 | 1.4266E-05 | |
21834 | 78 | A/V | 108 | rs878949081 | 0.0821 | None | gnomAD-2.1.1 | 8.09E-06 | |
21834 | 78 | A/V | 108 | rs878949081 | 0.0821 | None | gnomAD-4.0.0 | 4.79397E-06 | |
21836 | 80 | A/V | 110 | None | 0.0935 | None | gnomAD-4.0.0 | 6.84941E-07 | |
21837 | 81 | R/W | 111 | rs2048289282 | 0.2075 | None | gnomAD-3.1.2 | 6.57E-06 | |
21837 | 81 | R/W | 111 | rs2048289282 | 0.2075 | None | gnomAD-4.0.0 | 6.57428E-06 | |
21838 | 82 | T/N | 112 | rs1458673199 | 0.1102 | None | gnomAD-2.1.1 | 4.04E-06 | |
21838 | 82 | T/N | 112 | rs1458673199 | 0.1102 | None | gnomAD-4.0.0 | 1.595E-06 | |
21839 | 83 | A/E | 113 | None | 0.5969 | None | gnomAD-4.0.0 | 1.36988E-06 | |
21839 | 83 | A/T | 113 | rs56378177 | 0.5969 | None | gnomAD-2.1.1 | 6.82E-05 | |
21839 | 83 | A/T | 113 | rs56378177 | 0.5969 | None | gnomAD-3.1.2 | 8.55E-05 | |
21839 | 83 | A/T | 113 | rs56378177 | 0.5969 | None | gnomAD-4.0.0 | 5.64476E-05 | |
21839 | 83 | A/V | 113 | rs55948748 | 0.5969 | None | gnomAD-2.1.1 | 4.4563E-03 | |
21839 | 83 | A/V | 113 | rs55948748 | 0.5969 | None | gnomAD-3.1.2 | 1.22502E-02 | |
21839 | 83 | A/V | 113 | rs55948748 | 0.5969 | None | 1000 genomes | 1.41773E-02 | |
21839 | 83 | A/V | 113 | rs55948748 | 0.5969 | None | gnomAD-4.0.0 | 2.49612E-03 | |
21840 | 84 | V/E | 114 | None | 0.7855 | None | gnomAD-4.0.0 | 1.59513E-06 | |
21840 | 84 | V/I | 114 | rs770780646 | 0.7855 | None | gnomAD-2.1.1 | 1.21E-05 | |
21840 | 84 | V/I | 114 | rs770780646 | 0.7855 | None | gnomAD-3.1.2 | 6.58E-06 | |
21840 | 84 | V/I | 114 | rs770780646 | 0.7855 | None | gnomAD-4.0.0 | 3.72184E-06 | |
21840 | 84 | V/L | 114 | rs770780646 | 0.7855 | None | gnomAD-3.1.2 | 6.58E-06 | |
21840 | 84 | V/L | 114 | rs770780646 | 0.7855 | None | gnomAD-4.0.0 | 6.57601E-06 | |
21842 | 86 | I/T | 117 | None | 0.4817 | None | gnomAD-4.0.0 | 1.36998E-06 | |
21843 | 87 | S/G | 118 | None | 0.1098 | None | gnomAD-4.0.0 | 6.00162E-06 | |
21843 | 87 | S/N | 118 | rs2154179160 | 0.1098 | None | gnomAD-4.0.0 | 1.59594E-06 | |
21843 | 87 | S/R | 118 | None | 0.1098 | None | gnomAD-4.0.0 | 6.8508E-07 | |
21845 | 89 | P/L | 120 | rs201662134 | 0.3829 | None | gnomAD-2.1.1 | 4.78022E-04 | |
21845 | 89 | P/L | 120 | rs201662134 | 0.3829 | None | gnomAD-3.1.2 | 2.63026E-04 | |
21845 | 89 | P/L | 120 | rs201662134 | 0.3829 | None | gnomAD-4.0.0 | 2.5878E-04 | |
21846 | 90 | S/P | 121 | None | 0.1038 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21848 | 92 | P/L | 123 | rs1559520585 | 0.3404 | None | gnomAD-4.0.0 | 1.37214E-06 | |
21848 | 92 | P/T | 123 | None | 0.3404 | None | gnomAD-4.0.0 | 1.59783E-06 | |
21849 | 93 | S/F | 124 | rs1060500465 | 0.1065 | None | gnomAD-4.0.0 | 3.20569E-06 | |
21850 | 94 | D/N | 125 | rs2048279657 | 0.6749 | None | gnomAD-4.0.0 | 1.60414E-06 | |
21850 | 94 | D/V | 125 | rs372750796 | 0.6749 | None | gnomAD-2.1.1 | 8.14E-06 | |
21850 | 94 | D/V | 125 | rs372750796 | 0.6749 | None | gnomAD-3.1.2 | 6.58E-06 | |
21850 | 94 | D/V | 125 | rs372750796 | 0.6749 | None | gnomAD-4.0.0 | 2.48629E-06 | |
21851 | 95 | P/T | 126 | None | 0.4178 | None | gnomAD-4.0.0 | 6.86624E-07 | |
21854 | 98 | I/L | 130 | None | 0.0770 | None | gnomAD-4.0.0 | 6.89351E-07 | |
21854 | 98 | I/V | 130 | None | 0.0770 | None | gnomAD-4.0.0 | 6.89351E-07 | |
21856 | 100 | A/T | 132 | rs752176305 | 0.6347 | None | gnomAD-2.1.1 | 6.66E-05 | |
21856 | 100 | A/T | 132 | rs752176305 | 0.6347 | None | gnomAD-3.1.2 | 3.29E-05 | |
21856 | 100 | A/T | 132 | rs752176305 | 0.6347 | None | gnomAD-4.0.0 | 2.12921E-05 | |
21856 | 100 | A/V | 132 | rs1303979451 | 0.6347 | None | gnomAD-2.1.1 | 4.15E-06 | |
21856 | 100 | A/V | 132 | rs1303979451 | 0.6347 | None | gnomAD-4.0.0 | 2.76665E-06 |