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P | P | S | P | P | R | W | L | E | V | I | N | I | T | K | N | T | A | D | L | K | W | T | V | P | E | K | D | G | G | S | P | I | T | N | Y | I | V | E | K | R | D | V | R | R | K | G | W | Q | T | V | D | T | T | V | K | D | T | K | C | T | V | T | P | L | T | E | G | S | L | Y | V | F | R | V | A | A | E | N | A | I | G | Q | S | D | Y | T | E | I | E | D | S | V | L | A | K | D | T |
P | P | S | P | P | R | W | L | E | V | I | N | I | T | K | N | T | A | D | L | K | W | T | V | P | E | K | D | G | G | S | P | I | T | N | Y | I | V | E | K | R | D | V | R | R | K | G | W | Q | T | V | D | T | T | V | K | D | T | K | C | T | V | T | P | L | T | E | G | S | L | Y | V | F | R | V | A | A | E | N | A | I | G | Q | S | D | Y | T | E | I | E | D | S | V | L | A | K | D | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
16651 | 1 | P/H | 1 | None | 0.4222 | None | gnomAD-4.0.0 | 6.89576E-07 | |
16651 | 1 | P/S | 1 | rs537759268 | 0.4222 | None | gnomAD-3.1.2 | 6.65E-06 | |
16651 | 1 | P/S | 1 | rs537759268 | 0.4222 | None | gnomAD-4.0.0 | 2.50083E-06 | |
16651 | 1 | P/T | 1 | rs537759268 | 0.4222 | None | gnomAD-2.1.1 | 4.36E-06 | |
16651 | 1 | P/T | 1 | rs537759268 | 0.4222 | None | 1000 genomes | 1.99681E-04 | |
16653 | 3 | S/L | 3 | rs746669146 | 0.1898 | None | gnomAD-2.1.1 | 8.44E-06 | |
16653 | 3 | S/L | 3 | rs746669146 | 0.1898 | None | gnomAD-4.0.0 | 4.82916E-06 | |
16654 | 4 | P/A | 4 | rs1362265469 | 0.2639 | None | gnomAD-2.1.1 | 4.21E-06 | |
16654 | 4 | P/A | 4 | rs1362265469 | 0.2639 | None | gnomAD-4.0.0 | 1.60804E-06 | |
16654 | 4 | P/S | 4 | rs1362265469 | 0.2639 | None | gnomAD-2.1.1 | 4.21E-06 | |
16654 | 4 | P/S | 4 | rs1362265469 | 0.2639 | None | gnomAD-4.0.0 | 1.60804E-06 | |
16654 | 4 | P/T | 4 | None | 0.2639 | None | gnomAD-4.0.0 | 6.43217E-06 | |
16655 | 5 | P/T | 5 | rs794729449 | 0.1150 | None | gnomAD-4.0.0 | 6.85852E-07 | |
16656 | 6 | R/C | 6 | rs1030093239 | 0.3004 | None | gnomAD-2.1.1 | 7.35E-06 | |
16656 | 6 | R/C | 6 | rs1030093239 | 0.3004 | None | gnomAD-3.1.2 | 1.32E-05 | |
16656 | 6 | R/C | 6 | rs1030093239 | 0.3004 | None | gnomAD-4.0.0 | 1.11796E-05 | |
16656 | 6 | R/H | 6 | rs373799076 | 0.3004 | None | gnomAD-2.1.1 | 3.32E-05 | |
16656 | 6 | R/H | 6 | rs373799076 | 0.3004 | None | gnomAD-3.1.2 | 6.61E-06 | |
16656 | 6 | R/H | 6 | rs373799076 | 0.3004 | None | gnomAD-4.0.0 | 3.04448E-05 | |
16656 | 6 | R/L | 6 | rs373799076 | 0.3004 | None | gnomAD-4.0.0 | 6.17284E-06 | |
16656 | 6 | R/S | 6 | rs1030093239 | 0.3004 | None | gnomAD-2.1.1 | 8.3E-06 | |
16656 | 6 | R/S | 6 | rs1030093239 | 0.3004 | None | gnomAD-4.0.0 | 5.48543E-06 | |
16659 | 9 | E/K | 11 | rs778767799 | 0.4999 | None | gnomAD-2.1.1 | 4.13E-06 | |
16659 | 9 | E/K | 11 | rs778767799 | 0.4999 | None | gnomAD-3.1.2 | 6.59E-06 | |
16659 | 9 | E/K | 11 | rs778767799 | 0.4999 | None | gnomAD-4.0.0 | 6.4271E-06 | |
16660 | 10 | V/I | 12 | rs757016105 | 0.2764 | None | gnomAD-2.1.1 | 3.71E-05 | |
16660 | 10 | V/I | 12 | rs757016105 | 0.2764 | None | gnomAD-3.1.2 | 6.59E-06 | |
16660 | 10 | V/I | 12 | rs757016105 | 0.2764 | None | gnomAD-4.0.0 | 2.44193E-05 | |
16661 | 11 | I/T | 13 | None | 0.5761 | None | gnomAD-4.0.0 | 1.3702E-06 | |
16661 | 11 | I/V | 13 | rs1353241870 | 0.5761 | None | gnomAD-2.1.1 | 4.12E-06 | |
16661 | 11 | I/V | 13 | rs1353241870 | 0.5761 | None | gnomAD-4.0.0 | 1.59611E-06 | |
16662 | 12 | N/D | 14 | rs2056522991 | 0.5459 | None | gnomAD-3.1.2 | 6.59E-06 | |
16662 | 12 | N/D | 14 | rs2056522991 | 0.5459 | None | gnomAD-4.0.0 | 6.58623E-06 | |
16662 | 12 | N/S | 14 | rs36043230 | 0.5459 | None | gnomAD-2.1.1 | 4.12E-06 | |
16662 | 12 | N/S | 14 | rs36043230 | 0.5459 | None | gnomAD-3.1.2 | 1.32E-05 | |
16662 | 12 | N/S | 14 | rs36043230 | 0.5459 | None | gnomAD-4.0.0 | 1.86158E-06 | |
16662 | 12 | N/T | 14 | rs36043230 | 0.5459 | None | gnomAD-2.1.1 | 1.57647E-02 | |
16662 | 12 | N/T | 14 | rs36043230 | 0.5459 | None | gnomAD-3.1.2 | 1.43738E-02 | |
16662 | 12 | N/T | 14 | rs36043230 | 0.5459 | None | 1000 genomes | 6.38978E-03 | |
16662 | 12 | N/T | 14 | rs36043230 | 0.5459 | None | gnomAD-4.0.0 | 1.95167E-02 | |
16663 | 13 | I/T | 15 | rs774556838 | 0.2062 | None | gnomAD-2.1.1 | 1.23E-05 | |
16663 | 13 | I/T | 15 | rs774556838 | 0.2062 | None | gnomAD-3.1.2 | 1.32E-05 | |
16663 | 13 | I/T | 15 | rs774556838 | 0.2062 | None | gnomAD-4.0.0 | 1.61339E-05 | |
16663 | 13 | I/V | 15 | rs1410838349 | 0.2062 | None | gnomAD-4.0.0 | 3.42538E-06 | |
16664 | 14 | T/I | 16 | rs1171944721 | 0.2430 | None | gnomAD-2.1.1 | 8.23E-06 | |
16664 | 14 | T/I | 16 | rs1171944721 | 0.2430 | None | gnomAD-4.0.0 | 7.97939E-06 | |
16665 | 15 | K/R | 17 | None | 0.4179 | None | gnomAD-4.0.0 | 1.59558E-06 | |
16668 | 18 | A/E | 20 | None | 0.0900 | None | gnomAD-4.0.0 | 1.59546E-06 | |
16668 | 18 | A/P | 20 | None | 0.0900 | None | gnomAD-4.0.0 | 6.84984E-07 | |
16668 | 18 | A/S | 20 | None | 0.0900 | None | gnomAD-4.0.0 | 6.84984E-07 | |
16668 | 18 | A/V | 20 | None | 0.0900 | None | gnomAD-4.0.0 | 1.59546E-06 | |
16670 | 20 | L/I | 22 | None | 0.1148 | None | gnomAD-4.0.0 | 1.59526E-06 | |
16673 | 23 | T/R | 25 | rs373889292 | 0.2583 | None | gnomAD-4.0.0 | 3.42471E-06 | |
16674 | 24 | V/I | 26 | rs2056518372 | 0.5320 | None | gnomAD-3.1.2 | 6.58E-06 | |
16674 | 24 | V/I | 26 | rs2056518372 | 0.5320 | None | gnomAD-4.0.0 | 5.58331E-06 | |
16676 | 26 | E/G | 28 | None | 0.6130 | None | gnomAD-4.0.0 | 1.59497E-06 | |
16676 | 26 | E/K | 28 | rs759582108 | 0.6130 | None | gnomAD-2.1.1 | 4.09E-06 | |
16676 | 26 | E/K | 28 | rs759582108 | 0.6130 | None | gnomAD-4.0.0 | 4.78506E-06 | |
16678 | 28 | D/E | 30 | rs774889204 | 0.3555 | None | gnomAD-2.1.1 | 4.09E-06 | |
16678 | 28 | D/G | 30 | None | 0.3555 | None | gnomAD-4.0.0 | 1.5948E-06 | |
16680 | 30 | G/R | 32 | rs1206390929 | 0.6471 | None | gnomAD-2.1.1 | 4.09E-06 | |
16680 | 30 | G/R | 32 | rs1206390929 | 0.6471 | None | gnomAD-4.0.0 | 3.18982E-06 | |
16681 | 31 | S/P | 33 | None | 0.2285 | None | gnomAD-4.0.0 | 1.36975E-06 | |
16681 | 31 | S/T | 33 | rs771522078 | 0.2285 | None | gnomAD-2.1.1 | 4.09E-06 | |
16681 | 31 | S/T | 33 | rs771522078 | 0.2285 | None | gnomAD-4.0.0 | 6.84876E-07 | |
16682 | 32 | P/L | 34 | rs1349579168 | 0.6991 | None | gnomAD-2.1.1 | 4.09E-06 | |
16682 | 32 | P/L | 34 | rs1349579168 | 0.6991 | None | gnomAD-3.1.2 | 6.58E-06 | |
16682 | 32 | P/L | 34 | rs1349579168 | 0.6991 | None | gnomAD-4.0.0 | 1.24064E-06 | |
16682 | 32 | P/S | 34 | None | 0.6991 | None | gnomAD-4.0.0 | 4.78432E-06 | |
16682 | 32 | P/T | 34 | rs1231714517 | 0.6991 | None | gnomAD-2.1.1 | 4.09E-06 | |
16682 | 32 | P/T | 34 | rs1231714517 | 0.6991 | None | gnomAD-4.0.0 | 1.59477E-06 | |
16684 | 34 | T/I | 36 | rs1303563982 | 0.3939 | None | gnomAD-2.1.1 | 4.08E-06 | |
16684 | 34 | T/I | 36 | rs1303563982 | 0.3939 | None | gnomAD-4.0.0 | 1.36963E-06 | |
16684 | 34 | T/N | 36 | None | 0.3939 | None | gnomAD-4.0.0 | 1.36963E-06 | |
16684 | 34 | T/S | 36 | None | 0.3939 | None | gnomAD-4.0.0 | 6.84816E-07 | |
16686 | 36 | Y/C | 38 | rs2056512518 | 0.1195 |
RCM |
Literature | None | |
16687 | 37 | I/M | 39 | rs1559789920 | 0.1406 | None | gnomAD-2.1.1 | 4.07E-06 | |
16687 | 37 | I/M | 39 | rs1559789920 | 0.1406 | None | gnomAD-4.0.0 | 1.59425E-06 | |
16687 | 37 | I/V | 39 | rs727504194 | 0.1406 | None | gnomAD-2.1.1 | 7.33E-05 | |
16687 | 37 | I/V | 39 | rs727504194 | 0.1406 | None | gnomAD-3.1.2 | 1.31636E-04 | |
16687 | 37 | I/V | 39 | rs727504194 | 0.1406 | None | gnomAD-4.0.0 | 2.72912E-05 | |
16688 | 38 | V/E | 40 | None | 0.1192 | None | gnomAD-4.0.0 | 2.40064E-06 | |
16693 | 43 | V/A | 50 | rs927020149 | 0.4701 | None | gnomAD-2.1.1 | 4.06E-06 | |
16693 | 43 | V/A | 50 | rs927020149 | 0.4701 | None | gnomAD-3.1.2 | 6.58E-06 | |
16693 | 43 | V/A | 50 | rs927020149 | 0.4701 | None | gnomAD-4.0.0 | 5.58201E-06 | |
16693 | 43 | V/I | 50 | rs377141765 | 0.4701 | None | gnomAD-2.1.1 | 2.16E-05 | |
16693 | 43 | V/I | 50 | rs377141765 | 0.4701 | None | gnomAD-3.1.2 | 3.29E-05 | |
16693 | 43 | V/I | 50 | rs377141765 | 0.4701 | None | 1000 genomes | 1.99681E-04 | |
16693 | 43 | V/I | 50 | rs377141765 | 0.4701 | None | gnomAD-4.0.0 | 3.53491E-05 | |
16694 | 44 | R/K | 54 | rs779633258 | 0.6563 | None | gnomAD-2.1.1 | 4.06E-06 | |
16694 | 44 | R/K | 54 | rs779633258 | 0.6563 | None | gnomAD-3.1.2 | 6.58E-06 | |
16694 | 44 | R/K | 54 | rs779633258 | 0.6563 | None | gnomAD-4.0.0 | 6.58224E-06 | |
16695 | 45 | R/Q | 60 | rs794729451 | 0.6033 | None | gnomAD-2.1.1 | 4.06E-06 | |
16695 | 45 | R/Q | 60 | rs794729451 | 0.6033 | None | gnomAD-3.1.2 | 2.63E-05 | |
16695 | 45 | R/Q | 60 | rs794729451 | 0.6033 | None | gnomAD-4.0.0 | 1.05435E-05 | |
16696 | 46 | K/N | 63 | rs745412383 | 1.1207 | None | gnomAD-2.1.1 | 4.06E-06 | |
16696 | 46 | K/N | 63 | rs745412383 | 1.1207 | None | gnomAD-4.0.0 | 1.59406E-06 | |
16697 | 47 | G/A | 64 | None | 0.4083 | None | gnomAD-4.0.0 | 1.59394E-06 | |
16697 | 47 | G/C | 64 | rs1553698627 | 0.4083 | None | gnomAD-2.1.1 | 4.05E-06 | |
16697 | 47 | G/C | 64 | rs1553698627 | 0.4083 | None | gnomAD-4.0.0 | 2.05408E-06 | |
16697 | 47 | G/S | 64 | rs1553698627 | 0.4083 | None | gnomAD-2.1.1 | 1.22E-05 | |
16697 | 47 | G/S | 64 | rs1553698627 | 0.4083 | None | gnomAD-4.0.0 | 6.84694E-07 | |
16698 | 48 | W/R | 65 | None | 0.2502 | None | gnomAD-4.0.0 | 1.59388E-06 | |
16699 | 49 | Q/R | 66 | None | 0.4586 | None | gnomAD-4.0.0 | 1.59381E-06 | |
16700 | 50 | T/A | 67 | None | 0.4340 | None | gnomAD-4.0.0 | 2.40064E-06 | |
16701 | 51 | V/M | 68 | None | 0.2826 | None | gnomAD-4.0.0 | 1.5939E-06 | |
16702 | 52 | D/N | 69 | rs1417347726 | 0.3157 | None | gnomAD-2.1.1 | 7.19E-06 | |
16702 | 52 | D/N | 69 | rs1417347726 | 0.3157 | None | gnomAD-3.1.2 | 6.58E-06 | |
16702 | 52 | D/N | 69 | rs1417347726 | 0.3157 | None | gnomAD-4.0.0 | 2.48081E-06 | |
16703 | 53 | T/A | 70 | rs778518712 | 0.4463 | None | gnomAD-2.1.1 | 4.05E-06 | |
16703 | 53 | T/A | 70 | rs778518712 | 0.4463 | None | gnomAD-4.0.0 | 1.59387E-06 | |
16703 | 53 | T/I | 70 | rs757138357 | 0.4463 | None | gnomAD-2.1.1 | 4.05E-06 | |
16703 | 53 | T/I | 70 | rs757138357 | 0.4463 | None | gnomAD-4.0.0 | 1.59408E-06 | |
16703 | 53 | T/N | 70 | rs757138357 | 0.4463 | None | gnomAD-4.0.0 | 3.18816E-06 | |
16706 | 56 | K/E | 83 | None | 0.8072 | None | gnomAD-4.0.0 | 2.40064E-06 | |
16706 | 56 | K/R | 83 | rs879111780 | 0.8072 | None | gnomAD-2.1.1 | 7.18E-06 | |
16706 | 56 | K/R | 83 | rs879111780 | 0.8072 | None | gnomAD-3.1.2 | 1.32E-05 | |
16706 | 56 | K/R | 83 | rs879111780 | 0.8072 | None | gnomAD-4.0.0 | 6.41578E-06 | |
16707 | 57 | D/N | 88 | rs1158553720 | 0.7092 | None | gnomAD-2.1.1 | 3.19E-05 | |
16707 | 57 | D/N | 88 | rs1158553720 | 0.7092 | None | gnomAD-3.1.2 | 6.58E-06 | |
16707 | 57 | D/N | 88 | rs1158553720 | 0.7092 | None | gnomAD-4.0.0 | 4.34139E-06 | |
16708 | 58 | T/A | 89 | rs2056500591 | 0.2225 | None | gnomAD-3.1.2 | 6.58E-06 | |
16708 | 58 | T/A | 89 | rs2056500591 | 0.2225 | None | gnomAD-4.0.0 | 2.56635E-06 | |
16708 | 58 | T/N | 89 | rs777539591 | 0.2225 | None | gnomAD-2.1.1 | 4.04E-06 | |
16708 | 58 | T/N | 89 | rs777539591 | 0.2225 | None | gnomAD-4.0.0 | 1.36939E-06 | |
16708 | 58 | T/P | 89 | None | 0.2225 | None | gnomAD-4.0.0 | 1.59389E-06 | |
16708 | 58 | T/S | 89 | None | 0.2225 | None | gnomAD-4.0.0 | 1.36939E-06 | |
16709 | 59 | K/N | 90 | rs1244376906 | 0.6790 | None | gnomAD-2.1.1 | 3.19E-05 | |
16709 | 59 | K/N | 90 | rs1244376906 | 0.6790 | None | gnomAD-3.1.2 | 6.58E-06 | |
16709 | 59 | K/N | 90 | rs1244376906 | 0.6790 | None | gnomAD-4.0.0 | 6.58328E-06 | |
16709 | 59 | K/Q | 90 | rs755961446 | 0.6790 | None | gnomAD-2.1.1 | 1.21E-05 | |
16709 | 59 | K/Q | 90 | rs755961446 | 0.6790 | None | gnomAD-4.0.0 | 7.96952E-06 | |
16709 | 59 | K/R | 90 | rs2056499137 | 0.6790 | None | gnomAD-3.1.2 | 6.58E-06 | |
16709 | 59 | K/R | 90 | rs2056499137 | 0.6790 | None | gnomAD-4.0.0 | 2.56639E-06 | |
16711 | 61 | T/R | 92 | None | 0.4425 | None | gnomAD-4.0.0 | 1.59393E-06 | |
16712 | 62 | V/D | 93 | None | 0.1168 | None | gnomAD-4.0.0 | 6.84701E-07 | |
16712 | 62 | V/G | 93 | rs1314552701 | 0.1168 | None | gnomAD-2.1.1 | 4.04E-06 | |
16712 | 62 | V/G | 93 | rs1314552701 | 0.1168 | None | gnomAD-4.0.0 | 4.1082E-06 | |
16712 | 62 | V/I | 93 | None | 0.1168 | None | gnomAD-4.0.0 | 6.84696E-07 | |
16712 | 62 | V/L | 93 | rs2056497488 | 0.1168 | None | gnomAD-4.0.0 | 6.84696E-07 | |
16713 | 63 | T/I | 94 | rs2056496324 | 0.5299 | None | gnomAD-3.1.2 | 6.58E-06 | |
16713 | 63 | T/I | 94 | rs2056496324 | 0.5299 | None | gnomAD-4.0.0 | 6.58233E-06 | |
16714 | 64 | P/L | 96 | rs1309789816 | 0.6333 | None | gnomAD-2.1.1 | 4.04E-06 | |
16714 | 64 | P/L | 96 | rs1309789816 | 0.6333 | None | gnomAD-4.0.0 | 2.05411E-06 | |
16715 | 65 | L/V | 97 | rs1181230555 | 0.1204 | None | gnomAD-2.1.1 | 6.38E-05 | |
16715 | 65 | L/V | 97 | rs1181230555 | 0.1204 | None | gnomAD-3.1.2 | 1.97E-05 | |
16715 | 65 | L/V | 97 | rs1181230555 | 0.1204 | None | gnomAD-4.0.0 | 7.69888E-06 | |
16717 | 67 | E/D | 99 | rs369623681 | 0.5657 | None | gnomAD-2.1.1 | 1.08E-05 | |
16717 | 67 | E/D | 99 | rs369623681 | 0.5657 | None | gnomAD-3.1.2 | 1.97E-05 | |
16717 | 67 | E/D | 99 | rs369623681 | 0.5657 | None | gnomAD-4.0.0 | 2.17067E-05 | |
16718 | 68 | G/V | 100 | None | 0.3761 | None | gnomAD-4.0.0 | 1.59394E-06 | |
16719 | 69 | S/Y | 102 | rs1416967090 | 0.1347 | None | gnomAD-2.1.1 | 4.04E-06 | |
16719 | 69 | S/Y | 102 | rs1416967090 | 0.1347 | None | gnomAD-4.0.0 | 1.594E-06 | |
16721 | 71 | Y/C | 104 | None | 0.1183 | None | gnomAD-4.0.0 | 1.36945E-06 | |
16724 | 74 | R/Q | 107 | rs768793035 | 0.0968 | None | gnomAD-2.1.1 | 7.17E-06 | |
16724 | 74 | R/Q | 107 | rs768793035 | 0.0968 | None | gnomAD-3.1.2 | 1.32E-05 | |
16724 | 74 | R/Q | 107 | rs768793035 | 0.0968 | None | gnomAD-4.0.0 | 2.3568E-05 | |
16726 | 76 | A/T | 109 | None | 0.0559 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16727 | 77 | A/T | 110 | rs766576103 | 0.0835 | None | gnomAD-2.1.1 | 1.21E-05 | |
16727 | 77 | A/T | 110 | rs766576103 | 0.0835 | None | gnomAD-4.0.0 | 4.10832E-06 | |
16727 | 77 | A/V | 110 | None | 0.0835 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16730 | 80 | A/T | 113 | None | 0.5543 | None | gnomAD-4.0.0 | 3.42348E-06 | |
16730 | 80 | A/V | 113 | rs763483590 | 0.5543 | None | gnomAD-2.1.1 | 4.04E-06 | |
16730 | 80 | A/V | 113 | rs763483590 | 0.5543 | None | gnomAD-4.0.0 | 1.59398E-06 | |
16731 | 81 | I/T | 114 | None | 0.6452 | None | gnomAD-4.0.0 | 1.59386E-06 | |
16731 | 81 | I/V | 114 | None | 0.6452 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16732 | 82 | G/R | 115 | rs1419646565 | 0.1720 | None | gnomAD-2.1.1 | 4.04E-06 | |
16732 | 82 | G/R | 115 | rs1419646565 | 0.1720 | None | gnomAD-4.0.0 | 1.59388E-06 | |
16734 | 84 | S/G | 118 | rs1227059346 | 0.0966 | None | gnomAD-3.1.2 | 6.58E-06 | |
16734 | 84 | S/G | 118 | rs1227059346 | 0.0966 | None | gnomAD-4.0.0 | 6.5825E-06 | |
16735 | 85 | D/E | 119 | None | 0.8083 | None | gnomAD-4.0.0 | 6.84702E-07 | |
16735 | 85 | D/N | 119 | rs773927256 | 0.8083 | None | gnomAD-2.1.1 | 8.07E-06 | |
16735 | 85 | D/N | 119 | rs773927256 | 0.8083 | None | gnomAD-3.1.2 | 6.58E-06 | |
16735 | 85 | D/N | 119 | rs773927256 | 0.8083 | None | gnomAD-4.0.0 | 1.41157E-05 | |
16736 | 86 | Y/N | 120 | None | 0.2489 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16737 | 87 | T/A | 121 | None | 0.2041 | None | gnomAD-4.0.0 | 1.59394E-06 | |
16737 | 87 | T/I | 121 | None | 0.2041 | None | gnomAD-4.0.0 | 3.60097E-06 | |
16738 | 88 | E/G | 122 | None | 0.3100 | None | gnomAD-4.0.0 | 3.18788E-06 | |
16738 | 88 | E/K | 122 | rs148018042 | 0.3100 | None | gnomAD-2.1.1 | 1.46918E-04 | |
16738 | 88 | E/K | 122 | rs148018042 | 0.3100 | None | gnomAD-3.1.2 | 1.84232E-04 | |
16738 | 88 | E/K | 122 | rs148018042 | 0.3100 | None | 1000 genomes | 3.99361E-04 | |
16738 | 88 | E/K | 122 | rs148018042 | 0.3100 | None | gnomAD-4.0.0 | 2.19528E-04 | |
16739 | 89 | I/V | 123 | rs1553698265 | 0.1563 | None | gnomAD-4.0.0 | 1.59395E-06 | |
16740 | 90 | E/G | 124 | rs1314963445 | 1.0367 | None | gnomAD-3.1.2 | 6.58E-06 | |
16740 | 90 | E/G | 124 | rs1314963445 | 1.0367 | None | gnomAD-4.0.0 | 6.57903E-06 | |
16740 | 90 | E/K | 124 | rs771586396 | 1.0367 | None | gnomAD-2.1.1 | 4.04E-06 | |
16740 | 90 | E/K | 124 | rs771586396 | 1.0367 | None | gnomAD-4.0.0 | 2.05414E-06 | |
16741 | 91 | D/E | 125 | rs372658275 | 0.8674 | None | gnomAD-3.1.2 | 1.97E-05 | |
16741 | 91 | D/E | 125 | rs372658275 | 0.8674 | None | gnomAD-4.0.0 | 3.10078E-06 | |
16743 | 93 | V/L | 127 | None | 0.2413 | None | gnomAD-4.0.0 | 1.59407E-06 | |
16743 | 93 | V/M | 127 | None | 0.2413 | None | gnomAD-4.0.0 | 1.59407E-06 | |
16745 | 95 | A/T | 130 | rs2056479723 | 0.0689 | None | gnomAD-3.1.2 | 6.58E-06 | |
16745 | 95 | A/T | 130 | rs2056479723 | 0.0689 | None | gnomAD-4.0.0 | 1.86092E-06 | |
16746 | 96 | K/Q | 131 | None | 0.3891 | None | gnomAD-4.0.0 | 4.80129E-06 | |
16746 | 96 | K/T | 131 | rs1367329297 | 0.3891 | None | gnomAD-3.1.2 | 6.58E-06 | |
16746 | 96 | K/T | 131 | rs1367329297 | 0.3891 | None | gnomAD-4.0.0 | 2.0302E-06 | |
16747 | 97 | D/G | 132 | rs745559631 | 0.5953 | None | gnomAD-2.1.1 | 4.04E-06 |