10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
R | L | S | V | R | G | D | T | I | K | V | K | A | G | E | P | V | H | I | P | A | D | V | T | G | L | P | M | P | K | I | E | W | S | K | N | E | T | V | I | E | K | P | T | D | A | L | Q | I | T | K | E | E | V | S | R | S | E | A | K | T | E | L | S | I | P | K | A | V | R | E | D | K | G | T | Y | T | V | T | A | S | N | R | L | G | S | V | F | R | N | V | H | V | E | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
17968 | 1 | R/C | 1 | rs776785175 | 0.5201 | None | gnomAD-2.1.1 | 2.22E-05 | |
17968 | 1 | R/C | 1 | rs776785175 | 0.5201 | None | gnomAD-4.0.0 | 9.05292E-06 | |
17968 | 1 | R/H | 1 | rs200100660 | 0.5201 | None | gnomAD-2.1.1 | 8.76E-05 | |
17968 | 1 | R/H | 1 | rs200100660 | 0.5201 | None | gnomAD-3.1.2 | 9.22E-05 | |
17968 | 1 | R/H | 1 | rs200100660 | 0.5201 | None | gnomAD-4.0.0 | 1.1059E-04 | |
17968 | 1 | R/S | 1 | rs776785175 | 0.5201 | None | gnomAD-3.1.2 | 6.59E-06 | |
17968 | 1 | R/S | 1 | rs776785175 | 0.5201 | None | gnomAD-4.0.0 | 6.58033E-06 | |
17969 | 2 | L/P | 2 | rs780364455 | 0.3535 | None | gnomAD-2.1.1 | 4.34E-06 | |
17969 | 2 | L/P | 2 | rs780364455 | 0.3535 | None | gnomAD-4.0.0 | 1.64259E-06 | |
17970 | 3 | S/I | 3 | None | 0.8453 | None | gnomAD-4.0.0 | 6.9269E-07 | |
17970 | 3 | S/N | 3 | rs368532455 | 0.8453 | None | gnomAD-2.1.1 | 4.31E-06 | |
17970 | 3 | S/N | 3 | rs368532455 | 0.8453 | None | gnomAD-3.1.2 | 6.58E-06 | |
17970 | 3 | S/N | 3 | rs368532455 | 0.8453 | None | gnomAD-4.0.0 | 4.38723E-06 | |
17972 | 5 | R/Q | 5 | rs377169251 | 1.0951 | None | gnomAD-2.1.1 | 1.27E-05 | |
17972 | 5 | R/Q | 5 | rs377169251 | 1.0951 | None | gnomAD-3.1.2 | 1.32E-05 | |
17972 | 5 | R/Q | 5 | rs377169251 | 1.0951 | None | gnomAD-4.0.0 | 1.06232E-05 | |
17973 | 6 | G/A | 8 | rs2054500597 | 0.4589 | None | gnomAD-3.1.2 | 6.58E-06 | |
17973 | 6 | G/A | 8 | rs2054500597 | 0.4589 | None | gnomAD-4.0.0 | 2.03049E-06 | |
17974 | 7 | D/H | 9 | None | 0.7918 | None | gnomAD-4.0.0 | 6.88925E-07 | |
17975 | 8 | T/A | 11 | None | 0.3329 | None | gnomAD-4.0.0 | 6.87803E-07 | |
17975 | 8 | T/I | 11 | None | 0.3329 | None | gnomAD-4.0.0 | 6.87773E-07 | |
17975 | 8 | T/S | 11 | rs727503605 | 0.3329 | None | gnomAD-2.1.1 | 4.58E-05 | |
17975 | 8 | T/S | 11 | rs727503605 | 0.3329 | None | gnomAD-4.0.0 | 1.92576E-05 | |
17976 | 9 | I/N | 13 | rs1293562368 | 0.1746 | None | gnomAD-3.1.2 | 6.58E-06 | |
17976 | 9 | I/N | 13 | rs1293562368 | 0.1746 | None | gnomAD-4.0.0 | 6.58189E-06 | |
17976 | 9 | I/T | 13 | rs1293562368 | 0.1746 | None | gnomAD-3.1.2 | 6.58E-06 | |
17976 | 9 | I/T | 13 | rs1293562368 | 0.1746 | None | gnomAD-4.0.0 | 6.58189E-06 | |
17976 | 9 | I/V | 13 | rs371424482 | 0.1746 | None | gnomAD-2.1.1 | 3.19E-05 | |
17976 | 9 | I/V | 13 | rs371424482 | 0.1746 | None | gnomAD-3.1.2 | 1.98E-05 | |
17976 | 9 | I/V | 13 | rs371424482 | 0.1746 | None | gnomAD-4.0.0 | 8.12176E-06 | |
17977 | 10 | K/N | 14 | None | 0.3922 | None | gnomAD-4.0.0 | 1.60552E-06 | |
17977 | 10 | K/Q | 14 | None | 0.3922 | None | gnomAD-4.0.0 | 6.86935E-07 | |
17979 | 12 | K/R | 18 | None | 0.6547 | None | gnomAD-4.0.0 | 1.60204E-06 | |
17981 | 14 | G/E | 24 | None | 0.3331 | None | gnomAD-4.0.0 | 1.59961E-06 | |
17982 | 15 | E/K | 25 | rs1270287250 | 0.3682 | None | gnomAD-2.1.1 | 3.19E-05 | |
17982 | 15 | E/K | 25 | rs1270287250 | 0.3682 | None | gnomAD-3.1.2 | 6.59E-06 | |
17982 | 15 | E/K | 25 | rs1270287250 | 0.3682 | None | gnomAD-4.0.0 | 3.04585E-06 | |
17983 | 16 | P/A | 26 | None | 0.4660 | None | gnomAD-4.0.0 | 6.85439E-07 | |
17985 | 18 | H/Q | 29 | rs374042312 | 0.5107 | None | gnomAD-2.1.1 | 3.19E-05 | |
17985 | 18 | H/Q | 29 | rs374042312 | 0.5107 | None | gnomAD-3.1.2 | 6.58E-06 | |
17985 | 18 | H/Q | 29 | rs374042312 | 0.5107 | None | gnomAD-4.0.0 | 3.85367E-06 | |
17986 | 19 | I/T | 30 | rs1200347706 | 0.1190 | None | gnomAD-2.1.1 | 3.19E-05 | |
17986 | 19 | I/T | 30 | rs1200347706 | 0.1190 | None | gnomAD-3.1.2 | 6.59E-06 | |
17986 | 19 | I/T | 30 | rs1200347706 | 0.1190 | None | gnomAD-4.0.0 | 6.58597E-06 | |
17986 | 19 | I/V | 30 | rs1293207173 | 0.1190 | None | gnomAD-3.1.2 | 6.58E-06 | |
17986 | 19 | I/V | 30 | rs1293207173 | 0.1190 | None | gnomAD-4.0.0 | 6.58345E-06 | |
17987 | 20 | P/T | 31 | rs1315555738 | 0.2651 | None | gnomAD-2.1.1 | 4.07E-06 | |
17989 | 22 | D/N | 34 | rs1060500481 | 0.5015 | None | gnomAD-4.0.0 | 1.59521E-06 | |
17989 | 22 | D/Y | 34 | None | 0.5015 | None | gnomAD-4.0.0 | 1.59521E-06 | |
17990 | 23 | V/A | 35 | None | 0.2439 | None | gnomAD-4.0.0 | 3.60103E-06 | |
17991 | 24 | T/I | 38 | None | 0.6408 | None | gnomAD-4.0.0 | 2.73955E-06 | |
17995 | 28 | M/I | 43 | None | 0.2441 | None | gnomAD-4.0.0 | 1.59456E-06 | |
17995 | 28 | M/K | 43 | rs1266231398 | 0.2441 | None | gnomAD-2.1.1 | 3.19E-05 | |
17995 | 28 | M/K | 43 | rs1266231398 | 0.2441 | None | gnomAD-3.1.2 | 6.58E-06 | |
17995 | 28 | M/K | 43 | rs1266231398 | 0.2441 | None | gnomAD-4.0.0 | 6.58432E-06 | |
17995 | 28 | M/V | 43 | rs754959032 | 0.2441 | None | gnomAD-2.1.1 | 4.05E-06 | |
17995 | 28 | M/V | 43 | rs754959032 | 0.2441 | None | gnomAD-4.0.0 | 3.18919E-06 | |
17997 | 30 | K/N | 45 | None | 0.5807 | None | gnomAD-4.0.0 | 4.78292E-06 | |
17998 | 31 | I/M | 46 | None | 0.2366 | None | gnomAD-4.0.0 | 1.59424E-06 | |
17998 | 31 | I/T | 46 | rs781376870 | 0.2366 | None | gnomAD-2.1.1 | 4.05E-06 | |
17998 | 31 | I/T | 46 | rs781376870 | 0.2366 | None | gnomAD-3.1.2 | 6.59E-06 | |
17998 | 31 | I/T | 46 | rs781376870 | 0.2366 | None | gnomAD-4.0.0 | 8.06347E-06 | |
18000 | 33 | W/C | 48 | rs72646813 | 0.1761 | None | gnomAD-2.1.1 | 1.62E-05 | |
18000 | 33 | W/C | 48 | rs72646813 | 0.1761 | None | gnomAD-4.0.0 | 7.97107E-06 | |
18001 | 34 | S/T | 49 | None | 0.1411 | None | gnomAD-4.0.0 | 1.59413E-06 | |
18002 | 35 | K/R | 50 | None | 0.1882 | None | gnomAD-4.0.0 | 1.59397E-06 | |
18007 | 40 | I/M | 58 | rs1439129129 | 0.2081 | None | gnomAD-2.1.1 | 7.18E-06 | |
18007 | 40 | I/M | 58 | rs1439129129 | 0.2081 | None | gnomAD-3.1.2 | 6.58E-06 | |
18007 | 40 | I/M | 58 | rs1439129129 | 0.2081 | None | gnomAD-4.0.0 | 3.10103E-06 | |
18007 | 40 | I/T | 58 | None | 0.2081 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18007 | 40 | I/V | 58 | rs1260982977 | 0.2081 | None | gnomAD-3.1.2 | 6.58E-06 | |
18007 | 40 | I/V | 58 | rs1260982977 | 0.2081 | None | gnomAD-4.0.0 | 3.10084E-06 | |
18008 | 41 | E/G | 59 | None | 0.8909 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18008 | 41 | E/K | 59 | rs2054482853 | 0.8909 | None | gnomAD-4.0.0 | 3.18777E-06 | |
18010 | 43 | P/S | 73 | None | 0.4625 | None | gnomAD-4.0.0 | 3.60097E-06 | |
18011 | 44 | T/A | 74 | rs766446275 | 0.4751 | None | gnomAD-2.1.1 | 8.09E-06 | |
18011 | 44 | T/A | 74 | rs766446275 | 0.4751 | None | gnomAD-4.0.0 | 1.23236E-05 | |
18012 | 45 | D/E | 109 | rs765319965 | 1.1131 | None | gnomAD-2.1.1 | 4.04E-06 | |
18012 | 45 | D/E | 109 | rs765319965 | 1.1131 | None | gnomAD-4.0.0 | 3.42315E-06 | |
18012 | 45 | D/N | 109 | None | 1.1131 | None | gnomAD-4.0.0 | 1.59367E-06 | |
18013 | 46 | A/S | 115 | rs531242797 | 0.4691 | None | gnomAD-2.1.1 | 1.09207E-04 | |
18013 | 46 | A/S | 115 | rs531242797 | 0.4691 | None | gnomAD-3.1.2 | 2.63E-05 | |
18013 | 46 | A/S | 115 | rs531242797 | 0.4691 | None | 1000 genomes | 1.99681E-04 | |
18013 | 46 | A/S | 115 | rs531242797 | 0.4691 | None | gnomAD-4.0.0 | 4.4027E-05 | |
18013 | 46 | A/T | 115 | rs531242797 | 0.4691 | None | gnomAD-2.1.1 | 4.04E-06 | |
18013 | 46 | A/T | 115 | rs531242797 | 0.4691 | None | gnomAD-4.0.0 | 6.84636E-07 | |
18018 | 51 | K/E | 120 | rs2054476187 | 0.4778 | None | gnomAD-4.0.0 | 1.27475E-05 | |
18018 | 51 | K/M | 120 | rs368425364 | 0.4778 | None | gnomAD-2.1.1 | 8.61E-05 | |
18018 | 51 | K/M | 120 | rs368425364 | 0.4778 | None | gnomAD-3.1.2 | 7.9E-05 | |
18018 | 51 | K/M | 120 | rs368425364 | 0.4778 | None | gnomAD-4.0.0 | 8.92918E-05 | |
18021 | 54 | V/A | 123 | rs1039563833 | 0.4236 | None | gnomAD-2.1.1 | 4.04E-06 | |
18021 | 54 | V/A | 123 | rs1039563833 | 0.4236 | None | gnomAD-4.0.0 | 6.84605E-07 | |
18021 | 54 | V/E | 123 | None | 0.4236 | None | gnomAD-4.0.0 | 6.84605E-07 | |
18022 | 55 | S/C | 125 | None | 0.2784 | None | gnomAD-4.0.0 | 3.60097E-06 | |
18022 | 55 | S/F | 125 | None | 0.2784 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18022 | 55 | S/P | 125 | rs188437486 | 0.2784 | None | gnomAD-3.1.2 | 6.58E-06 | |
18022 | 55 | S/P | 125 | rs188437486 | 0.2784 | None | 1000 genomes | 1.99681E-04 | |
18022 | 55 | S/P | 125 | rs188437486 | 0.2784 | None | gnomAD-4.0.0 | 6.5773E-06 | |
18023 | 56 | R/P | 127 | None | 0.9372 | None | gnomAD-4.0.0 | 6.84601E-07 | |
18023 | 56 | R/Q | 127 | rs727503603 | 0.9372 | None | gnomAD-2.1.1 | 1.54229E-04 | |
18023 | 56 | R/Q | 127 | rs727503603 | 0.9372 | None | gnomAD-3.1.2 | 9.22E-05 | |
18023 | 56 | R/Q | 127 | rs727503603 | 0.9372 | None | gnomAD-4.0.0 | 9.85983E-05 | |
18024 | 57 | S/G | 130 | None | 0.3327 | None | gnomAD-4.0.0 | 1.59334E-06 | |
18025 | 58 | E/G | 131 | None | 0.3542 | None | gnomAD-4.0.0 | 1.59332E-06 | |
18025 | 58 | E/K | 131 | rs2054470493 | 0.3542 | None | gnomAD-4.0.0 | 1.5934E-06 | |
18027 | 60 | K/E | 135 | rs374256705 | 0.3218 | None | gnomAD-2.1.1 | 8.08E-06 | |
18027 | 60 | K/E | 135 | rs374256705 | 0.3218 | None | gnomAD-4.0.0 | 1.59331E-06 | |
18029 | 62 | E/K | 137 | None | 0.2583 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18030 | 63 | L/F | 138 | None | 0.0808 | None | gnomAD-4.0.0 | 1.3692E-06 | |
18031 | 64 | S/C | 139 | None | 0.1638 | None | gnomAD-4.0.0 | 6.84583E-07 | |
18031 | 64 | S/G | 139 | rs397517615 | 0.1638 | None | gnomAD-2.1.1 | 8.07E-06 | |
18031 | 64 | S/G | 139 | rs397517615 | 0.1638 | None | gnomAD-3.1.2 | 3.95E-05 | |
18031 | 64 | S/G | 139 | rs397517615 | 0.1638 | None | gnomAD-4.0.0 | 8.0608E-06 | |
18031 | 64 | S/T | 139 | rs1259446367 | 0.1638 | None | gnomAD-2.1.1 | 1.21E-05 | |
18031 | 64 | S/T | 139 | rs1259446367 | 0.1638 | None | gnomAD-4.0.0 | 4.78001E-06 | |
18032 | 65 | I/T | 140 | None | 0.1272 | None | gnomAD-4.0.0 | 1.59341E-06 | |
18032 | 65 | I/V | 140 | rs1227589199 | 0.1272 | None | gnomAD-2.1.1 | 4.04E-06 | |
18032 | 65 | I/V | 140 | rs1227589199 | 0.1272 | None | gnomAD-4.0.0 | 3.1867E-06 | |
18033 | 66 | P/S | 141 | rs2054465796 | 0.4015 | None | gnomAD-3.1.2 | 6.58E-06 | |
18033 | 66 | P/S | 141 | rs2054465796 | 0.4015 | None | gnomAD-4.0.0 | 6.58172E-06 | |
18034 | 67 | K/R | 143 | rs747897792 | 0.7675 | None | gnomAD-2.1.1 | 1.21E-05 | |
18034 | 67 | K/R | 143 | rs747897792 | 0.7675 | None | gnomAD-4.0.0 | 6.3743E-06 | |
18035 | 68 | A/V | 144 | rs182445366 | 0.1236 | None | gnomAD-2.1.1 | 4.3E-05 | |
18035 | 68 | A/V | 144 | rs182445366 | 0.1236 | None | gnomAD-3.1.2 | 1.57992E-04 | |
18035 | 68 | A/V | 144 | rs182445366 | 0.1236 | None | 1000 genomes | 1.99681E-04 | |
18035 | 68 | A/V | 144 | rs182445366 | 0.1236 | None | gnomAD-4.0.0 | 4.03078E-05 | |
18036 | 69 | V/A | 145 | None | 0.4388 | None | gnomAD-4.0.0 | 1.59373E-06 | |
18037 | 70 | R/Q | 146 | rs541688627 | 0.6215 | None | gnomAD-2.1.1 | 2.02E-05 | |
18037 | 70 | R/Q | 146 | rs541688627 | 0.6215 | None | gnomAD-3.1.2 | 6.58E-05 | |
18037 | 70 | R/Q | 146 | rs541688627 | 0.6215 | None | 1000 genomes | 1.99681E-04 | |
18037 | 70 | R/Q | 146 | rs541688627 | 0.6215 | None | gnomAD-4.0.0 | 1.79846E-05 | |
18037 | 70 | R/W | 146 | rs201623791 | 0.6215 | None | gnomAD-2.1.1 | 5.73E-05 | |
18037 | 70 | R/W | 146 | rs201623791 | 0.6215 | None | gnomAD-3.1.2 | 7.9E-05 | |
18037 | 70 | R/W | 146 | rs201623791 | 0.6215 | None | gnomAD-4.0.0 | 1.10395E-04 | |
18038 | 71 | E/K | 148 | rs527887963 | 0.8110 | None | gnomAD-3.1.2 | 6.58E-06 | |
18038 | 71 | E/K | 148 | rs527887963 | 0.8110 | None | gnomAD-4.0.0 | 6.58137E-06 | |
18038 | 71 | E/Q | 148 | rs527887963 | 0.8110 | None | gnomAD-2.1.1 | 1.62E-05 | |
18038 | 71 | E/Q | 148 | rs527887963 | 0.8110 | None | gnomAD-3.1.2 | 6.58E-06 | |
18038 | 71 | E/Q | 148 | rs527887963 | 0.8110 | None | 1000 genomes | 1.99681E-04 | |
18038 | 71 | E/Q | 148 | rs527887963 | 0.8110 | None | gnomAD-4.0.0 | 1.02648E-05 | |
18039 | 72 | D/N | 149 | rs765148928 | 0.2462 | None | gnomAD-2.1.1 | 4.44E-05 | |
18039 | 72 | D/N | 149 | rs765148928 | 0.2462 | None | gnomAD-3.1.2 | 3.95E-05 | |
18039 | 72 | D/N | 149 | rs765148928 | 0.2462 | None | gnomAD-4.0.0 | 7.19509E-05 | |
18040 | 73 | K/E | 151 | rs1465644822 | 0.6056 | None | gnomAD-2.1.1 | 4.04E-06 | |
18040 | 73 | K/E | 151 | rs1465644822 | 0.6056 | None | gnomAD-4.0.0 | 1.36952E-06 | |
18040 | 73 | K/R | 151 | None | 0.6056 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18041 | 74 | G/A | 152 | None | 0.1273 | None | gnomAD-4.0.0 | 1.36982E-06 | |
18041 | 74 | G/R | 152 | None | 0.1273 | None | gnomAD-4.0.0 | 1.08029E-05 | |
18042 | 75 | T/A | 153 | rs1034402778 | 0.2764 | None | gnomAD-4.0.0 | 3.42447E-06 | |
18043 | 76 | Y/F | 154 | None | 0.1352 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18043 | 76 | Y/H | 154 | rs757392311 | 0.1352 | None | gnomAD-2.1.1 | 4.04E-06 | |
18043 | 76 | Y/H | 154 | rs757392311 | 0.1352 | None | gnomAD-3.1.2 | 6.58E-06 | |
18043 | 76 | Y/H | 154 | rs757392311 | 0.1352 | None | gnomAD-4.0.0 | 6.58051E-06 | |
18044 | 77 | T/A | 155 | rs397517616 | 0.1635 | None | gnomAD-4.0.0 | 1.59573E-06 | |
18044 | 77 | T/I | 155 | rs1434797561 | 0.1635 | None | gnomAD-2.1.1 | 4.04E-06 | |
18044 | 77 | T/I | 155 | rs1434797561 | 0.1635 | None | gnomAD-4.0.0 | 2.74026E-06 | |
18044 | 77 | T/P | 155 | rs397517616 | 0.1635 | None | gnomAD-2.1.1 | 4.04E-06 | |
18044 | 77 | T/P | 155 | rs397517616 | 0.1635 | None | gnomAD-4.0.0 | 3.19145E-06 | |
18046 | 79 | T/N | 157 | None | 0.2824 | None | gnomAD-4.0.0 | 1.3714E-06 | |
18046 | 79 | T/S | 157 | None | 0.2824 | None | gnomAD-4.0.0 | 2.05709E-06 | |
18047 | 80 | A/T | 158 | rs760705006 | 0.1675 | None | gnomAD-2.1.1 | 4.06E-06 | |
18047 | 80 | A/T | 158 | rs760705006 | 0.1675 | None | gnomAD-4.0.0 | 1.60104E-06 | |
18047 | 80 | A/V | 158 | rs373815064 | 0.1675 | None | gnomAD-2.1.1 | 3.6E-05 | |
18047 | 80 | A/V | 158 | rs373815064 | 0.1675 | None | gnomAD-3.1.2 | 2.63E-05 | |
18047 | 80 | A/V | 158 | rs373815064 | 0.1675 | None | gnomAD-4.0.0 | 2.54889E-05 | |
18048 | 81 | S/P | 159 | rs878999356 | 0.2784 | None | gnomAD-2.1.1 | 1.63E-05 | |
18048 | 81 | S/P | 159 | rs878999356 | 0.2784 | None | gnomAD-3.1.2 | 1.97E-05 | |
18048 | 81 | S/P | 159 | rs878999356 | 0.2784 | None | gnomAD-4.0.0 | 6.28136E-05 | |
18049 | 82 | N/S | 161 | rs562393563 | 0.2093 | None | gnomAD-2.1.1 | 1.22E-05 | |
18049 | 82 | N/S | 161 | rs562393563 | 0.2093 | None | gnomAD-3.1.2 | 6.58E-06 | |
18049 | 82 | N/S | 161 | rs562393563 | 0.2093 | None | 1000 genomes | 1.99681E-04 | |
18049 | 82 | N/S | 161 | rs562393563 | 0.2093 | None | gnomAD-4.0.0 | 8.70897E-06 | |
18050 | 83 | R/C | 162 | rs55734111 | 0.6902 | None | gnomAD-2.1.1 | 5.46575E-04 | |
18050 | 83 | R/C | 162 | rs55734111 | 0.6902 | None | gnomAD-3.1.2 | 2.30272E-04 | |
18050 | 83 | R/C | 162 | rs55734111 | 0.6902 | None | 1000 genomes | 1.39776E-03 | |
18050 | 83 | R/C | 162 | rs55734111 | 0.6902 | None | gnomAD-4.0.0 | 1.64289E-04 | |
18050 | 83 | R/G | 162 | rs55734111 | 0.6902 | None | gnomAD-4.0.0 | 2.7495E-06 | |
18050 | 83 | R/H | 162 | rs774572776 | 0.6902 | None | gnomAD-4.0.0 | 9.6299E-06 | |
18050 | 83 | R/L | 162 | rs774572776 | 0.6902 | None | gnomAD-2.1.1 | 4.1E-06 | |
18051 | 84 | L/R | 163 | rs771364277 | 0.7855 | None | gnomAD-2.1.1 | 4.1E-06 | |
18051 | 84 | L/R | 163 | rs771364277 | 0.7855 | None | gnomAD-4.0.0 | 1.37559E-06 | |
18052 | 85 | G/A | 164 | None | 0.4027 | None | gnomAD-4.0.0 | 2.06506E-06 | |
18052 | 85 | G/S | 164 | None | 0.4027 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18053 | 86 | S/P | 165 | rs1559718586 | 0.5731 | None | gnomAD-2.1.1 | 4.11E-06 | |
18053 | 86 | S/P | 165 | rs1559718586 | 0.5731 | None | gnomAD-4.0.0 | 1.61348E-06 | |
18054 | 87 | V/L | 166 | rs200968679 | 0.5399 | None | gnomAD-2.1.1 | 1.39062E-04 | |
18054 | 87 | V/L | 166 | rs200968679 | 0.5399 | None | gnomAD-3.1.2 | 1.25021E-04 | |
18054 | 87 | V/L | 166 | rs200968679 | 0.5399 | None | gnomAD-4.0.0 | 2.30265E-04 | |
18055 | 88 | F/L | 168 | rs776312018 | 0.6623 | None | gnomAD-4.0.0 | 1.62352E-06 | |
18056 | 89 | R/G | 169 | None | 0.6937 | None | gnomAD-4.0.0 | 6.90367E-07 | |
18056 | 89 | R/Q | 169 | rs376932266 | 0.6937 | None | gnomAD-2.1.1 | 1.84E-05 | |
18056 | 89 | R/Q | 169 | rs376932266 | 0.6937 | None | gnomAD-3.1.2 | 4.61E-05 | |
18056 | 89 | R/Q | 169 | rs376932266 | 0.6937 | None | gnomAD-4.0.0 | 2.62526E-05 | |
18057 | 90 | N/H | 171 | None | 0.4940 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18057 | 90 | N/S | 171 | rs779769456 | 0.4940 | None | gnomAD-2.1.1 | 4.17E-06 | |
18057 | 90 | N/S | 171 | rs779769456 | 0.4940 | None | gnomAD-4.0.0 | 2.07167E-06 | |
18057 | 90 | N/T | 171 | None | 0.4940 | None | gnomAD-4.0.0 | 6.90558E-07 | |
18058 | 91 | V/A | 172 | None | 0.1844 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18059 | 92 | H/Q | 173 | rs772133203 | 0.3292 | None | gnomAD-2.1.1 | 4.21E-06 | |
18059 | 92 | H/R | 173 | None | 0.3292 | None | gnomAD-4.0.0 | 1.38367E-06 | |
18059 | 92 | H/Y | 173 | rs1329692225 | 0.3292 | None | gnomAD-2.1.1 | 3.19E-05 | |
18060 | 93 | V/A | 174 | rs778548912 | 0.1193 | None | gnomAD-2.1.1 | 1.69E-05 | |
18060 | 93 | V/A | 174 | rs778548912 | 0.1193 | None | gnomAD-4.0.0 | 4.15284E-06 | |
18060 | 93 | V/I | 174 | rs190574498 | 0.1193 | None | gnomAD-2.1.1 | 7.46E-05 | |
18060 | 93 | V/I | 174 | rs190574498 | 0.1193 | None | gnomAD-3.1.2 | 5.27E-05 | |
18060 | 93 | V/I | 174 | rs190574498 | 0.1193 | None | 1000 genomes | 1.99681E-04 | |
18060 | 93 | V/I | 174 | rs190574498 | 0.1193 | None | gnomAD-4.0.0 | 4.50983E-05 | |
18061 | 94 | E/D | 175 | rs757026449 | 0.2606 | None | gnomAD-2.1.1 | 8.49E-06 | |
18061 | 94 | E/D | 175 | rs757026449 | 0.2606 | None | gnomAD-3.1.2 | 6.58E-06 | |
18061 | 94 | E/D | 175 | rs757026449 | 0.2606 | None | gnomAD-4.0.0 | 3.93583E-06 | |
18061 | 94 | E/K | 175 | None | 0.2606 | None | gnomAD-4.0.0 | 1.63943E-06 | |
18062 | 95 | V/A | 177 | None | 0.1379 | None | gnomAD-4.0.0 | 1.64082E-06 | |
18062 | 95 | V/E | 177 | rs753606067 | 0.1379 | None | gnomAD-2.1.1 | 4.25E-06 | |
18062 | 95 | V/E | 177 | rs753606067 | 0.1379 | None | gnomAD-3.1.2 | 6.58E-06 | |
18062 | 95 | V/E | 177 | rs753606067 | 0.1379 | None | gnomAD-4.0.0 | 2.6268E-06 |