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P | P | G | P | P | K | D | L | H | H | V | D | V | D | K | T | E | V | S | L | V | W | N | K | P | D | R | D | G | G | S | P | I | T | G | Y | L | V | E | Y | Q | E | E | G | T | Q | D | W | I | K | F | K | T | V | T | N | L | E | C | V | V | T | G | L | Q | Q | G | K | T | Y | R | F | R | V | K | A | E | N | I | V | G | L | G | L | P | D | T | T | I | P | I | E | C | Q | E | K | L | V | P | P | S | V | E | L | D | V | K | L | I | E | G | L | V | V | K | A | G | T | T | V | R | F | P | A | I | I | R | G | V | P | V | P | T | A | K | W | T | T | D | G | S | E | I | K | T | D | E | H | Y | T | V | E | T | D | N | F | S | S | V | L | T | I | K | N | C | L | R | R | D | T | G | E | Y | Q | I | T | V | S | N | A | A | G | S | K | T | V | A | V | H | L | T | V | L |
P | P | G | P | P | K | D | L | H | H | V | D | V | D | K | T | E | V | S | L | V | W | N | K | P | D | R | D | G | G | S | P | I | T | G | Y | L | V | E | Y | Q | E | E | G | T | Q | D | W | I | K | F | K | T | V | T | N | L | E | C | V | V | T | G | L | Q | Q | G | K | T | Y | R | F | R | V | K | A | E | N | I | V | G | L | G | L | P | D | T | T | I | P | I | E | C | Q | E | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
19977 | 1 | P/T | 1 | rs768561791 | 0.5128 | None | gnomAD-2.1.1 | 8.31E-06 | |
19977 | 1 | P/T | 1 | rs768561791 | 0.5128 | None | gnomAD-4.0.0 | 1.60914E-06 | |
19978 | 2 | P/A | 2 | rs1366471902 | 0.1246 | None | gnomAD-2.1.1 | 8.26E-06 | |
19978 | 2 | P/A | 2 | rs1366471902 | 0.1246 | None | gnomAD-4.0.0 | 3.21447E-06 | |
19978 | 2 | P/L | 2 | rs1303172310 | 0.1246 | None | gnomAD-2.1.1 | 4.13E-06 | |
19978 | 2 | P/L | 2 | rs1303172310 | 0.1246 | None | gnomAD-4.0.0 | 4.81012E-06 | |
19980 | 4 | P/A | 4 | None | 0.3488 | None | gnomAD-4.0.0 | 1.60523E-06 | |
19981 | 5 | P/L | 5 | None | 0.1106 | None | gnomAD-4.0.0 | 1.59822E-06 | |
19984 | 8 | L/M | 9 | None | 0.1464 | None | gnomAD-4.0.0 | 6.85192E-07 | |
19984 | 8 | L/P | 9 | None | 0.1464 | None | gnomAD-4.0.0 | 1.59401E-06 | |
19985 | 9 | H/Y | 11 | None | 0.4063 | None | gnomAD-4.0.0 | 1.59394E-06 | |
19986 | 10 | H/L | 12 | None | 0.4358 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19986 | 10 | H/R | 12 | None | 0.4358 | None | gnomAD-4.0.0 | 4.80129E-06 | |
19987 | 11 | V/E | 13 | rs2050279012 | 0.4391 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19988 | 12 | D/V | 14 | None | 0.5535 | None | gnomAD-4.0.0 | 3.18477E-06 | |
19989 | 13 | V/A | 15 | rs778982581 | 0.2541 | None | gnomAD-2.1.1 | 1.79E-05 | |
19989 | 13 | V/A | 15 | rs778982581 | 0.2541 | None | gnomAD-3.1.2 | 1.31E-05 | |
19989 | 13 | V/A | 15 | rs778982581 | 0.2541 | None | gnomAD-4.0.0 | 1.36377E-05 | |
19989 | 13 | V/G | 15 | rs778982581 | 0.2541 | None | gnomAD-3.1.2 | 1.97E-05 | |
19989 | 13 | V/G | 15 | rs778982581 | 0.2541 | None | gnomAD-4.0.0 | 2.47957E-06 | |
19989 | 13 | V/I | 15 | rs1021499065 | 0.2541 | None | gnomAD-4.0.0 | 4.10647E-06 | |
19989 | 13 | V/L | 15 | rs1021499065 | 0.2541 | None | gnomAD-4.0.0 | 6.84412E-07 | |
19990 | 14 | D/E | 16 | rs757340381 | 0.3855 | None | gnomAD-2.1.1 | 8.07E-06 | |
19990 | 14 | D/E | 16 | rs757340381 | 0.3855 | None | gnomAD-4.0.0 | 3.18482E-06 | |
19990 | 14 | D/H | 16 | None | 0.3855 | None | gnomAD-4.0.0 | 6.00161E-06 | |
19991 | 15 | K/Q | 17 | None | 0.4989 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19992 | 16 | T/A | 18 | None | 0.3766 | None | gnomAD-4.0.0 | 1.59236E-06 | |
19993 | 17 | E/Q | 19 | None | 0.4663 | None | gnomAD-4.0.0 | 2.40064E-06 | |
19994 | 18 | V/D | 20 | None | 0.0999 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19995 | 19 | S/F | 21 | rs1272769120 | 0.2360 | None | gnomAD-3.1.2 | 6.58E-06 | |
19995 | 19 | S/F | 21 | rs1272769120 | 0.2360 | None | gnomAD-4.0.0 | 2.03014E-06 | |
19996 | 20 | L/R | 22 | rs1553645358 | 0.1107 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19996 | 20 | L/V | 22 | rs2050272980 | 0.1107 | None | gnomAD-3.1.2 | 6.58E-06 | |
19996 | 20 | L/V | 22 | rs2050272980 | 0.1107 | None | gnomAD-4.0.0 | 3.84589E-06 | |
19997 | 21 | V/F | 23 | None | 0.2746 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19999 | 23 | N/S | 25 | rs778293115 | 0.4904 | None | gnomAD-2.1.1 | 4.03E-06 | |
19999 | 23 | N/S | 25 | rs778293115 | 0.4904 | None | gnomAD-4.0.0 | 4.77692E-06 | |
20001 | 25 | P/L | 27 | rs727505345 | 0.1496 | None | gnomAD-2.1.1 | 2.5E-05 | |
20001 | 25 | P/L | 27 | rs727505345 | 0.1496 | None | gnomAD-3.1.2 | 5.26E-05 | |
20001 | 25 | P/L | 27 | rs727505345 | 0.1496 | None | gnomAD-4.0.0 | 1.5498E-05 | |
20001 | 25 | P/T | 27 | None | 0.1496 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20002 | 26 | D/G | 28 | rs199512049 | 0.7915 | None | gnomAD-2.1.1 | 5.5111E-04 | |
20002 | 26 | D/G | 28 | rs199512049 | 0.7915 | None | gnomAD-3.1.2 | 3.09052E-04 | |
20002 | 26 | D/G | 28 | rs199512049 | 0.7915 | None | gnomAD-4.0.0 | 3.13045E-04 | |
20002 | 26 | D/H | 28 | None | 0.7915 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20003 | 27 | R/C | 29 | rs1039014549 | 0.8261 | None | gnomAD-2.1.1 | 4.03E-06 | |
20003 | 27 | R/C | 29 | rs1039014549 | 0.8261 | None | gnomAD-3.1.2 | 2.63E-05 | |
20003 | 27 | R/C | 29 | rs1039014549 | 0.8261 | None | gnomAD-4.0.0 | 9.91863E-06 | |
20003 | 27 | R/G | 29 | rs1039014549 | 0.8261 | None | gnomAD-2.1.1 | 4.03E-06 | |
20003 | 27 | R/G | 29 | rs1039014549 | 0.8261 | None | gnomAD-4.0.0 | 1.36882E-06 | |
20003 | 27 | R/H | 29 | rs756091180 | 0.8261 | None | gnomAD-2.1.1 | 1.79E-05 | |
20003 | 27 | R/H | 29 | rs756091180 | 0.8261 | None | gnomAD-3.1.2 | 3.29E-05 | |
20003 | 27 | R/H | 29 | rs756091180 | 0.8261 | None | gnomAD-4.0.0 | 2.41762E-05 | |
20003 | 27 | R/P | 29 | None | 0.8261 | None | gnomAD-4.0.0 | 6.84407E-07 | |
20004 | 28 | D/G | 30 | rs1343530077 | 0.3376 | None | gnomAD-2.1.1 | 4.03E-06 | |
20004 | 28 | D/G | 30 | rs1343530077 | 0.3376 | None | gnomAD-4.0.0 | 2.73763E-06 | |
20004 | 28 | D/N | 30 | None | 0.3376 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20005 | 29 | G/A | 31 | rs1280304121 | 0.3628 | None | gnomAD-3.1.2 | 6.57E-06 | |
20005 | 29 | G/A | 31 | rs1280304121 | 0.3628 | None | gnomAD-4.0.0 | 6.57497E-06 | |
20005 | 29 | G/D | 31 | rs1280304121 | 0.3628 | None | gnomAD-2.1.1 | 8.06E-06 | |
20005 | 29 | G/D | 31 | rs1280304121 | 0.3628 | None | gnomAD-4.0.0 | 4.10644E-06 | |
20006 | 30 | G/A | 32 | None | 0.6608 | None | gnomAD-4.0.0 | 2.05322E-06 | |
20006 | 30 | G/C | 32 | None | 0.6608 | None | gnomAD-4.0.0 | 1.59231E-06 | |
20008 | 32 | P/L | 34 | rs199839492 | 0.7027 | None | gnomAD-2.1.1 | 1.21E-05 | |
20008 | 32 | P/L | 34 | rs199839492 | 0.7027 | None | gnomAD-3.1.2 | 6.58E-06 | |
20008 | 32 | P/L | 34 | rs199839492 | 0.7027 | None | gnomAD-4.0.0 | 5.57924E-06 | |
20009 | 33 | I/V | 35 | rs371988490 | 0.2113 | None | gnomAD-2.1.1 | 1.43E-05 | |
20009 | 33 | I/V | 35 | rs371988490 | 0.2113 | None | gnomAD-3.1.2 | 5.92E-05 | |
20009 | 33 | I/V | 35 | rs371988490 | 0.2113 | None | gnomAD-4.0.0 | 1.66646E-05 | |
20010 | 34 | T/P | 36 | None | 0.4966 | None | gnomAD-4.0.0 | 1.59233E-06 | |
20012 | 36 | Y/H | 38 | None | 0.1148 | None | gnomAD-4.0.0 | 1.5923E-06 | |
20012 | 36 | Y/N | 38 | None | 0.1148 | None | gnomAD-4.0.0 | 1.5923E-06 | |
20013 | 37 | L/S | 39 | rs2050262481 | 0.1903 | None | gnomAD-3.1.2 | 6.58E-06 | |
20013 | 37 | L/S | 39 | rs2050262481 | 0.1903 | None | gnomAD-4.0.0 | 6.57903E-06 | |
20015 | 39 | E/D | 41 | rs575796706 | 0.0976 | None | gnomAD-2.1.1 | 2.5E-05 | |
20015 | 39 | E/D | 41 | rs575796706 | 0.0976 | None | gnomAD-3.1.2 | 3.95E-05 | |
20015 | 39 | E/D | 41 | rs575796706 | 0.0976 | None | 1000 genomes | 1.99681E-04 | |
20015 | 39 | E/D | 41 | rs575796706 | 0.0976 | None | gnomAD-4.0.0 | 1.9215E-05 | |
20015 | 39 | E/Q | 41 | None | 0.0976 | None | gnomAD-4.0.0 | 3.18462E-06 | |
20015 | 39 | E/V | 41 | rs2050261843 | 0.0976 | None | gnomAD-4.0.0 | 2.05317E-06 | |
20016 | 40 | Y/H | 42 | rs1186164600 | 0.2560 | None | gnomAD-2.1.1 | 3.19E-05 | |
20016 | 40 | Y/H | 42 | rs1186164600 | 0.2560 | None | gnomAD-3.1.2 | 1.32E-05 | |
20016 | 40 | Y/H | 42 | rs1186164600 | 0.2560 | None | gnomAD-4.0.0 | 1.31544E-05 | |
20019 | 43 | E/A | 50 | None | 0.4483 | None | gnomAD-4.0.0 | 6.8439E-07 | |
20019 | 43 | E/D | 50 | rs1342395614 | 0.4483 | None | gnomAD-4.0.0 | 6.84391E-06 | |
20019 | 43 | E/G | 50 | rs1301342171 | 0.4483 | None | gnomAD-4.0.0 | 6.8439E-06 | |
20019 | 43 | E/K | 50 | rs201487340 | 0.4483 | None | gnomAD-2.1.1 | 1.49528E-03 | |
20019 | 43 | E/K | 50 | rs201487340 | 0.4483 | None | gnomAD-3.1.2 | 4.11157E-03 | |
20019 | 43 | E/K | 50 | rs201487340 | 0.4483 | None | 1000 genomes | 1.79712E-03 | |
20019 | 43 | E/K | 50 | rs201487340 | 0.4483 | None | gnomAD-4.0.0 | 7.9093E-04 | |
20020 | 44 | G/D | 54 | rs1430427636 | 0.6633 | None | gnomAD-2.1.1 | 7.15E-06 | |
20020 | 44 | G/D | 54 | rs1430427636 | 0.6633 | None | gnomAD-3.1.2 | 6.58E-06 | |
20020 | 44 | G/D | 54 | rs1430427636 | 0.6633 | None | gnomAD-4.0.0 | 3.71945E-06 | |
20021 | 45 | T/I | 60 | rs760706351 | 0.3915 | None | gnomAD-2.1.1 | 2.5E-05 | |
20021 | 45 | T/I | 60 | rs760706351 | 0.3915 | None | gnomAD-3.1.2 | 6.58E-06 | |
20021 | 45 | T/I | 60 | rs760706351 | 0.3915 | None | gnomAD-4.0.0 | 4.3394E-06 | |
20021 | 45 | T/N | 60 | rs760706351 | 0.3915 | None | gnomAD-2.1.1 | 4.03E-06 | |
20021 | 45 | T/N | 60 | rs760706351 | 0.3915 | None | gnomAD-4.0.0 | 6.84379E-07 | |
20021 | 45 | T/S | 60 | rs1374902089 | 0.3915 | None | gnomAD-2.1.1 | 4.03E-06 | |
20021 | 45 | T/S | 60 | rs1374902089 | 0.3915 | None | gnomAD-4.0.0 | 1.59217E-06 | |
20022 | 46 | Q/E | 63 | None | 0.9668 | None | gnomAD-4.0.0 | 1.59214E-06 | |
20023 | 47 | D/E | 64 | rs2050254249 | 0.8341 | None | gnomAD-4.0.0 | 1.59211E-06 | |
20023 | 47 | D/V | 64 | None | 0.8341 | None | gnomAD-4.0.0 | 2.40064E-06 | |
20024 | 48 | W/C | 65 | None | 0.2267 | None | gnomAD-4.0.0 | 4.10614E-06 | |
20024 | 48 | W/L | 65 | None | 0.2267 | None | gnomAD-4.0.0 | 7.20193E-06 | |
20024 | 48 | W/R | 65 | None | 0.2267 | None | gnomAD-4.0.0 | 7.20193E-06 | |
20027 | 51 | F/C | 68 | None | 0.2979 | None | gnomAD-4.0.0 | 6.00161E-06 | |
20027 | 51 | F/L | 68 | rs1184403397 | 0.2979 | None | gnomAD-2.1.1 | 3.19E-05 | |
20027 | 51 | F/L | 68 | rs1184403397 | 0.2979 | None | gnomAD-3.1.2 | 6.58E-06 | |
20027 | 51 | F/L | 68 | rs1184403397 | 0.2979 | None | gnomAD-4.0.0 | 3.09937E-06 | |
20028 | 52 | K/N | 69 | None | 0.5744 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20029 | 53 | T/I | 72 | None | 0.4025 | None | gnomAD-4.0.0 | 6.84351E-07 | |
20029 | 53 | T/N | 72 | rs2050252504 | 0.4025 | None | gnomAD-3.1.2 | 6.58E-06 | |
20029 | 53 | T/N | 72 | rs2050252504 | 0.4025 | None | gnomAD-4.0.0 | 2.47957E-06 | |
20030 | 54 | V/L | 77 | rs775292311 | 0.1743 | None | gnomAD-2.1.1 | 4.02E-06 | |
20030 | 54 | V/L | 77 | rs775292311 | 0.1743 | None | gnomAD-4.0.0 | 1.59209E-06 | |
20030 | 54 | V/M | 77 | rs775292311 | 0.1743 | None | gnomAD-2.1.1 | 4.02E-06 | |
20030 | 54 | V/M | 77 | rs775292311 | 0.1743 | None | gnomAD-4.0.0 | 1.59209E-06 | |
20031 | 55 | T/A | 83 | rs771797161 | 0.7644 | None | gnomAD-2.1.1 | 1.21E-05 | |
20031 | 55 | T/A | 83 | rs771797161 | 0.7644 | None | gnomAD-4.0.0 | 4.79044E-06 | |
20031 | 55 | T/K | 83 | rs1172877818 | 0.7644 | None | gnomAD-2.1.1 | 4.02E-06 | |
20031 | 55 | T/K | 83 | rs1172877818 | 0.7644 | None | gnomAD-4.0.0 | 1.59204E-06 | |
20032 | 56 | N/D | 88 | rs1230376061 | 0.6488 | None | gnomAD-3.1.2 | 6.58E-06 | |
20032 | 56 | N/D | 88 | rs1230376061 | 0.6488 | None | gnomAD-4.0.0 | 3.09934E-06 | |
20032 | 56 | N/I | 88 | None | 0.6488 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20033 | 57 | L/V | 89 | rs878993043 | 0.2339 | None | gnomAD-2.1.1 | 8.05E-06 | |
20033 | 57 | L/V | 89 | rs878993043 | 0.2339 | None | gnomAD-3.1.2 | 2.63E-05 | |
20033 | 57 | L/V | 89 | rs878993043 | 0.2339 | None | gnomAD-4.0.0 | 1.02556E-05 | |
20034 | 58 | E/D | 90 | None | 0.6258 | None | gnomAD-4.0.0 | 2.40064E-06 | |
20034 | 58 | E/G | 90 | None | 0.6258 | None | gnomAD-4.0.0 | 1.20033E-06 | |
20034 | 58 | E/Q | 90 | rs746056036 | 0.6258 | None | gnomAD-2.1.1 | 3.22E-05 | |
20034 | 58 | E/Q | 90 | rs746056036 | 0.6258 | None | gnomAD-3.1.2 | 6.58E-06 | |
20034 | 58 | E/Q | 90 | rs746056036 | 0.6258 | None | gnomAD-4.0.0 | 5.57843E-06 | |
20035 | 59 | C/F | 91 | rs774488793 | 0.1500 | None | gnomAD-2.1.1 | 8.05E-06 | |
20035 | 59 | C/F | 91 | rs774488793 | 0.1500 | None | gnomAD-3.1.2 | 6.58E-06 | |
20035 | 59 | C/F | 91 | rs774488793 | 0.1500 | None | gnomAD-4.0.0 | 5.57882E-06 | |
20035 | 59 | C/R | 91 | None | 0.1500 | None | gnomAD-4.0.0 | 2.40065E-06 | |
20035 | 59 | C/Y | 91 | rs774488793 | 0.1500 | None | gnomAD-2.1.1 | 6.38E-05 | |
20035 | 59 | C/Y | 91 | rs774488793 | 0.1500 | None | gnomAD-3.1.2 | 1.32E-05 | |
20035 | 59 | C/Y | 91 | rs774488793 | 0.1500 | None | gnomAD-4.0.0 | 1.85961E-06 | |
20037 | 61 | V/F | 93 | rs749438176 | 0.0980 | None | gnomAD-2.1.1 | 3.57E-05 | |
20037 | 61 | V/F | 93 | rs749438176 | 0.0980 | None | gnomAD-3.1.2 | 1.97E-05 | |
20037 | 61 | V/F | 93 | rs749438176 | 0.0980 | None | gnomAD-4.0.0 | 7.69105E-06 | |
20037 | 61 | V/L | 93 | rs749438176 | 0.0980 | None | gnomAD-2.1.1 | 7.14E-06 | |
20037 | 61 | V/L | 93 | rs749438176 | 0.0980 | None | gnomAD-3.1.2 | 6.58E-06 | |
20037 | 61 | V/L | 93 | rs749438176 | 0.0980 | None | gnomAD-4.0.0 | 2.56368E-06 | |
20038 | 62 | T/A | 94 | None | 0.4751 | None | gnomAD-4.0.0 | 1.59194E-06 | |
20038 | 62 | T/I | 94 | None | 0.4751 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20039 | 63 | G/R | 96 | rs2050244000 | 0.5563 | None | gnomAD-4.0.0 | 1.59195E-06 | |
20039 | 63 | G/V | 96 | None | 0.5563 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20040 | 64 | L/I | 97 | rs1209430010 | 0.1276 | None | gnomAD-2.1.1 | 4.02E-06 | |
20040 | 64 | L/I | 97 | rs1209430010 | 0.1276 | None | gnomAD-4.0.0 | 6.84337E-07 | |
20042 | 66 | Q/H | 99 | None | 0.6050 | None | gnomAD-4.0.0 | 1.59198E-06 | |
20044 | 68 | K/E | 102 | rs1223532991 | 0.3517 | None | gnomAD-2.1.1 | 4.02E-06 | |
20044 | 68 | K/E | 102 | rs1223532991 | 0.3517 | None | gnomAD-4.0.0 | 1.5919E-06 | |
20046 | 70 | Y/F | 104 | rs1290494704 | 0.1058 | None | gnomAD-2.1.1 | 4.02E-06 | |
20046 | 70 | Y/F | 104 | rs1290494704 | 0.1058 | None | gnomAD-4.0.0 | 1.5919E-06 | |
20047 | 71 | R/K | 105 | rs371060708 | 0.3803 | None | gnomAD-2.1.1 | 2.01E-05 | |
20047 | 71 | R/K | 105 | rs371060708 | 0.3803 | None | gnomAD-3.1.2 | 4.6E-05 | |
20047 | 71 | R/K | 105 | rs371060708 | 0.3803 | None | gnomAD-4.0.0 | 8.2439E-05 | |
20049 | 73 | R/C | 107 | rs748606401 | 0.1128 | None | gnomAD-2.1.1 | 3.22E-05 | |
20049 | 73 | R/C | 107 | rs748606401 | 0.1128 | None | gnomAD-3.1.2 | 1.32E-05 | |
20049 | 73 | R/C | 107 | rs748606401 | 0.1128 | None | gnomAD-4.0.0 | 1.85965E-05 | |
20049 | 73 | R/H | 107 | rs200455644 | 0.1128 | None | gnomAD-2.1.1 | 1.143E-04 | |
20049 | 73 | R/H | 107 | rs200455644 | 0.1128 | None | gnomAD-3.1.2 | 8.55E-05 | |
20049 | 73 | R/H | 107 | rs200455644 | 0.1128 | None | gnomAD-4.0.0 | 1.01655E-04 | |
20051 | 75 | K/R | 109 | None | 0.1568 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20053 | 77 | E/G | 111 | None | 0.3239 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20054 | 78 | N/D | 112 | rs1244081106 | 0.1012 | None | gnomAD-2.1.1 | 3.19E-05 | |
20054 | 78 | N/D | 112 | rs1244081106 | 0.1012 | None | gnomAD-3.1.2 | 6.58E-06 | |
20054 | 78 | N/D | 112 | rs1244081106 | 0.1012 | None | gnomAD-4.0.0 | 6.57557E-06 | |
20054 | 78 | N/S | 112 | None | 0.1012 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20055 | 79 | I/T | 113 | rs755318489 | 0.7145 | None | gnomAD-2.1.1 | 4.02E-06 | |
20055 | 79 | I/T | 113 | rs755318489 | 0.7145 | None | gnomAD-4.0.0 | 4.10596E-06 | |
20055 | 79 | I/V | 113 | rs1445750788 | 0.7145 | None | gnomAD-2.1.1 | 4.02E-06 | |
20055 | 79 | I/V | 113 | rs1445750788 | 0.7145 | None | gnomAD-3.1.2 | 6.58E-06 | |
20055 | 79 | I/V | 113 | rs1445750788 | 0.7145 | None | gnomAD-4.0.0 | 2.47928E-05 | |
20057 | 81 | G/D | 115 | None | 0.1980 | None | gnomAD-4.0.0 | 6.8433E-07 | |
20057 | 81 | G/V | 115 | rs750064931 | 0.1980 | None | gnomAD-2.1.1 | 4.02E-06 | |
20057 | 81 | G/V | 115 | rs750064931 | 0.1980 | None | gnomAD-4.0.0 | 2.05299E-06 | |
20058 | 82 | L/F | 117 | rs2050227759 | 0.4690 | None | gnomAD-4.0.0 | 1.59194E-06 | |
20059 | 83 | G/R | 118 | rs778467153 | 0.1598 | None | gnomAD-4.0.0 | 1.59198E-06 | |
20059 | 83 | G/S | 118 | None | 0.1598 | None | gnomAD-2.1.1 | 4.02E-06 | |
20059 | 83 | G/S | 118 | None | 0.1598 | None | gnomAD-4.0.0 | 1.59198E-06 | |
20060 | 84 | L/H | 119 | rs143364796 | 0.8386 | None | gnomAD-2.1.1 | 4.02E-06 | |
20060 | 84 | L/H | 119 | rs143364796 | 0.8386 | None | gnomAD-3.1.2 | 1.97E-05 | |
20060 | 84 | L/H | 119 | rs143364796 | 0.8386 | None | 1000 genomes | 1.99681E-04 | |
20060 | 84 | L/H | 119 | rs143364796 | 0.8386 | None | gnomAD-4.0.0 | 1.48747E-05 | |
20060 | 84 | L/I | 119 | rs756818819 | 0.8386 | None | gnomAD-2.1.1 | 1.21E-05 | |
20060 | 84 | L/I | 119 | rs756818819 | 0.8386 | None | gnomAD-4.0.0 | 1.59199E-06 | |
20061 | 85 | P/L | 120 | None | 0.3018 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20062 | 86 | D/E | 121 | rs1403249185 | 0.2294 | None | gnomAD-3.1.2 | 6.57E-06 | |
20062 | 86 | D/E | 121 | rs1403249185 | 0.2294 | None | gnomAD-4.0.0 | 6.57462E-06 | |
20062 | 86 | D/N | 121 | rs2050223526 | 0.2294 | None | gnomAD-4.0.0 | 1.59204E-06 | |
20063 | 87 | T/I | 122 | None | 0.2976 | None | gnomAD-4.0.0 | 6.84367E-07 | |
20063 | 87 | T/K | 122 | None | 0.2976 | None | gnomAD-4.0.0 | 2.73747E-06 | |
20063 | 87 | T/R | 122 | rs1560220 | 0.2976 | None | gnomAD-2.1.1 | 1.61E-05 | |
20063 | 87 | T/R | 122 | rs1560220 | 0.2976 | None | gnomAD-4.0.0 | 3.42184E-06 | |
20064 | 88 | T/A | 124 | None | 0.1526 | None | gnomAD-4.0.0 | 1.59225E-06 | |
20065 | 89 | I/L | 125 | None | 0.7497 | None | gnomAD-4.0.0 | 1.5923E-06 | |
20066 | 90 | P/L | 126 | rs750217838 | 0.3345 | None | gnomAD-2.1.1 | 7.52E-05 | |
20066 | 90 | P/L | 126 | rs750217838 | 0.3345 | None | gnomAD-3.1.2 | 1.11816E-04 | |
20066 | 90 | P/L | 126 | rs750217838 | 0.3345 | None | gnomAD-4.0.0 | 4.4029E-05 | |
20066 | 90 | P/S | 126 | None | 0.3345 | None | gnomAD-4.0.0 | 2.73766E-06 | |
20067 | 91 | I/T | 127 | rs373690962 | 0.1319 | None | gnomAD-2.1.1 | 1.61E-05 | |
20067 | 91 | I/T | 127 | rs373690962 | 0.1319 | None | gnomAD-3.1.2 | 1.31E-05 | |
20067 | 91 | I/T | 127 | rs373690962 | 0.1319 | None | gnomAD-4.0.0 | 4.96079E-06 | |
20068 | 92 | E/D | 129 | rs774629592 | 0.4379 | None | gnomAD-2.1.1 | 4.04E-06 | |
20068 | 92 | E/D | 129 | rs774629592 | 0.4379 | None | gnomAD-3.1.2 | 6.57E-06 | |
20068 | 92 | E/D | 129 | rs774629592 | 0.4379 | None | gnomAD-4.0.0 | 6.57471E-06 | |
20068 | 92 | E/K | 129 | rs759291854 | 0.4379 | None | gnomAD-2.1.1 | 4.04E-06 | |
20068 | 92 | E/K | 129 | rs759291854 | 0.4379 | None | gnomAD-4.0.0 | 2.05446E-06 | |
20068 | 92 | E/Q | 129 | rs759291854 | 0.4379 | None | gnomAD-2.1.1 | 4.04E-06 | |
20068 | 92 | E/Q | 129 | rs759291854 | 0.4379 | None | gnomAD-3.1.2 | 2.63E-05 | |
20068 | 92 | E/Q | 129 | rs759291854 | 0.4379 | None | gnomAD-4.0.0 | 2.6303E-05 | |
20069 | 93 | C/R | 130 | rs771201679 | 0.0903 | None | gnomAD-2.1.1 | 1.21E-05 | |
20069 | 93 | C/R | 130 | rs771201679 | 0.0903 | None | gnomAD-3.1.2 | 3.95E-05 | |
20069 | 93 | C/R | 130 | rs771201679 | 0.0903 | None | gnomAD-4.0.0 | 2.41953E-05 | |
20069 | 93 | C/S | 130 | rs763176338 | 0.0903 | None | gnomAD-2.1.1 | 4.05E-06 | |
20069 | 93 | C/S | 130 | rs763176338 | 0.0903 | None | gnomAD-4.0.0 | 1.59649E-06 | |
20070 | 94 | Q/H | 131 | rs1204026103 | 0.5013 | None | gnomAD-4.0.0 | 1.20032E-06 | |
20071 | 95 | E/A | 132 | rs773208927 | 0.8751 | None | gnomAD-2.1.1 | 2.03E-05 | |
20071 | 95 | E/A | 132 | rs773208927 | 0.8751 | None | gnomAD-3.1.2 | 1.31E-05 | |
20071 | 95 | E/A | 132 | rs773208927 | 0.8751 | None | gnomAD-4.0.0 | 1.48989E-05 | |
20071 | 95 | E/G | 132 | None | 0.8751 | None | gnomAD-4.0.0 | 6.85515E-07 |