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P | K | I | F | E | R | I | Q | S | Q | T | V | G | Q | G | S | D | A | H | F | R | V | R | V | V | G | K | P | D | P | E | C | E | W | Y | K | N | G | V | K | I | E | R | S | D | R | I | Y | W | Y | W | P | E | D | N | V | C | E | L | V | I | R | D | V | T | A | E | D | S | A | S | I | M | V | K | A | I | N | I | A | G | E | T | S | S | H | A | F | L | L | V | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
2078 | 1 | P/S | 1 | rs777863327 | 0.1964 | None | gnomAD-2.1.1 | 7.99E-06 | |
2078 | 1 | P/S | 1 | rs777863327 | 0.1964 | None | gnomAD-4.0.0 | 1.27247E-05 | |
2079 | 2 | K/E | 2 | None | 0.7041 | None | gnomAD-4.0.0 | 1.59057E-06 | |
2079 | 2 | K/R | 2 | rs1395240027 | 0.7041 | None | gnomAD-2.1.1 | 3.18E-05 | |
2079 | 2 | K/R | 2 | rs1395240027 | 0.7041 | None | gnomAD-3.1.2 | 6.57E-06 | |
2079 | 2 | K/R | 2 | rs1395240027 | 0.7041 | None | gnomAD-4.0.0 | 6.57013E-06 | |
2081 | 4 | F/L | 4 | None | 0.7340 | None | gnomAD-4.0.0 | 6.84087E-07 | |
2082 | 5 | E/K | 5 | None | 0.3174 | None | gnomAD-2.1.1 | 7.99E-06 | |
2082 | 5 | E/K | 5 | None | 0.3174 | None | gnomAD-3.1.2 | 2.63E-05 | |
2082 | 5 | E/K | 5 | None | 0.3174 | None | gnomAD-4.0.0 | 1.79681E-05 | |
2082 | 5 | E/Q | 5 | rs750064248 | 0.3174 | None | gnomAD-4.0.0 | 6.84091E-07 | |
2083 | 6 | R/G | 7 | None | 0.5715 | None | gnomAD-4.0.0 | 1.59059E-06 | |
2083 | 6 | R/I | 7 | rs781676050 | 0.5715 | None | gnomAD-4.0.0 | 9.54356E-06 | |
2084 | 7 | I/T | 8 | None | 0.1062 | None | gnomAD-4.0.0 | 1.59059E-06 | |
2084 | 7 | I/V | 8 | rs369388581 | 0.1062 | None | gnomAD-2.1.1 | 7.99E-06 | |
2084 | 7 | I/V | 8 | rs369388581 | 0.1062 | None | gnomAD-3.1.2 | 1.31E-05 | |
2084 | 7 | I/V | 8 | rs369388581 | 0.1062 | None | gnomAD-4.0.0 | 5.57613E-06 | |
2087 | 10 | Q/R | 13 | rs1477007971 | 0.2306 | None | gnomAD-2.1.1 | 3.99E-06 | |
2087 | 10 | Q/R | 13 | rs1477007971 | 0.2306 | None | gnomAD-4.0.0 | 1.5906E-06 | |
2089 | 12 | V/A | 16 | rs1436344691 | 0.1992 | None | gnomAD-2.1.1 | 3.18E-05 | |
2089 | 12 | V/A | 16 | rs1436344691 | 0.1992 | None | gnomAD-3.1.2 | 6.57E-06 | |
2089 | 12 | V/A | 16 | rs1436344691 | 0.1992 | None | gnomAD-4.0.0 | 1.85873E-06 | |
2089 | 12 | V/E | 16 | None | 0.1992 | None | gnomAD-4.0.0 | 3.42044E-06 | |
2090 | 13 | G/C | 18 | rs752147588 | 0.2907 | None | gnomAD-2.1.1 | 7.19E-05 | |
2090 | 13 | G/C | 18 | rs752147588 | 0.2907 | None | gnomAD-3.1.2 | 6.57E-06 | |
2090 | 13 | G/C | 18 | rs752147588 | 0.2907 | None | gnomAD-4.0.0 | 4.02738E-05 | |
2090 | 13 | G/D | 18 | rs1199041868 | 0.2907 | None | gnomAD-2.1.1 | 3.99E-06 | |
2090 | 13 | G/S | 18 | rs752147588 | 0.2907 | None | gnomAD-2.1.1 | 3.99E-06 | |
2090 | 13 | G/S | 18 | rs752147588 | 0.2907 | None | gnomAD-4.0.0 | 2.73636E-06 | |
2091 | 14 | Q/R | 23 | rs879012357 | 0.6286 | None | gnomAD-2.1.1 | 3.18E-05 | |
2094 | 17 | D/E | 26 | None | 0.3958 | None | gnomAD-4.0.0 | 1.59066E-06 | |
2094 | 17 | D/H | 26 | None | 0.3958 | None | gnomAD-4.0.0 | 2.40064E-06 | |
2096 | 19 | H/R | 29 | None | 0.4441 | None | gnomAD-4.0.0 | 1.59062E-06 | |
2097 | 20 | F/L | 30 | rs2092132864 | 0.1067 | None | gnomAD-4.0.0 | 1.36819E-06 | |
2098 | 21 | R/G | 31 | rs763722868 | 0.3601 | None | gnomAD-2.1.1 | 1.2E-05 | |
2098 | 21 | R/G | 31 | rs763722868 | 0.3601 | None | gnomAD-4.0.0 | 2.05228E-06 | |
2098 | 21 | R/Q | 31 | rs565791174 | 0.3601 | None | gnomAD-2.1.1 | 1.2E-05 | |
2098 | 21 | R/Q | 31 | rs565791174 | 0.3601 | None | gnomAD-3.1.2 | 1.31E-05 | |
2098 | 21 | R/Q | 31 | rs565791174 | 0.3601 | None | 1000 genomes | 1.99681E-04 | |
2098 | 21 | R/Q | 31 | rs565791174 | 0.3601 | None | gnomAD-4.0.0 | 1.30108E-05 | |
2098 | 21 | R/W | 31 | rs763722868 | 0.3601 | None | gnomAD-2.1.1 | 1.2E-05 | |
2098 | 21 | R/W | 31 | rs763722868 | 0.3601 | None | gnomAD-4.0.0 | 1.16296E-05 | |
2099 | 22 | V/F | 33 | rs1055695339 | 0.1145 | None | gnomAD-3.1.2 | 1.97E-05 | |
2099 | 22 | V/F | 33 | rs1055695339 | 0.1145 | None | gnomAD-4.0.0 | 1.97182E-05 | |
2100 | 23 | R/I | 34 | None | 0.1865 | None | gnomAD-4.0.0 | 1.59069E-06 | |
2102 | 25 | V/L | 38 | rs767322897 | 0.3390 | None | gnomAD-2.1.1 | 3.99E-06 | |
2102 | 25 | V/L | 38 | rs767322897 | 0.3390 | None | gnomAD-3.1.2 | 3.29E-05 | |
2102 | 25 | V/L | 38 | rs767322897 | 0.3390 | None | gnomAD-4.0.0 | 2.78826E-05 | |
2102 | 25 | V/M | 38 | rs767322897 | 0.3390 | None | gnomAD-2.1.1 | 1.2E-05 | |
2102 | 25 | V/M | 38 | rs767322897 | 0.3390 | None | gnomAD-4.0.0 | 1.09458E-05 | |
2103 | 26 | G/R | 40 | rs2092130428 | 0.2310 | None | gnomAD-3.1.2 | 6.57E-06 | |
2103 | 26 | G/R | 40 | rs2092130428 | 0.2310 | None | gnomAD-4.0.0 | 2.47851E-06 | |
2104 | 27 | K/E | 41 | None | 0.9392 | None | gnomAD-4.0.0 | 1.36822E-06 | |
2104 | 27 | K/R | 41 | None | 0.9392 | None | gnomAD-4.0.0 | 1.36822E-06 | |
2105 | 28 | P/R | 42 | rs547169244 | 0.4793 | None | gnomAD-2.1.1 | 1.99E-05 | |
2105 | 28 | P/R | 42 | rs547169244 | 0.4793 | None | gnomAD-3.1.2 | 1.32E-05 | |
2105 | 28 | P/R | 42 | rs547169244 | 0.4793 | None | 1000 genomes | 1.99681E-04 | |
2105 | 28 | P/R | 42 | rs547169244 | 0.4793 | None | gnomAD-4.0.0 | 1.02455E-05 | |
2106 | 29 | D/E | 43 | None | 0.8905 | None | gnomAD-4.0.0 | 4.7888E-06 | |
2106 | 29 | D/H | 43 | rs774275945 | 0.8905 | None | gnomAD-2.1.1 | 2.83E-05 | |
2106 | 29 | D/H | 43 | rs774275945 | 0.8905 | None | gnomAD-3.1.2 | 1.31E-05 | |
2106 | 29 | D/H | 43 | rs774275945 | 0.8905 | None | gnomAD-4.0.0 | 4.33739E-06 | |
2107 | 30 | P/R | 44 | None | 0.1636 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2108 | 31 | E/K | 45 | rs762999586 | 0.8520 | None | gnomAD-2.1.1 | 2.84E-05 | |
2108 | 31 | E/K | 45 | rs762999586 | 0.8520 | None | gnomAD-3.1.2 | 2.63E-05 | |
2108 | 31 | E/K | 45 | rs762999586 | 0.8520 | None | gnomAD-4.0.0 | 2.29271E-05 | |
2109 | 32 | C/R | 46 | rs773335568 | 0.1623 | None | gnomAD-2.1.1 | 3.99E-06 | |
2109 | 32 | C/R | 46 | rs773335568 | 0.1623 | None | gnomAD-4.0.0 | 1.59081E-06 | |
2109 | 32 | C/Y | 46 | rs769946776 | 0.1623 | None | gnomAD-2.1.1 | 5.58E-05 | |
2109 | 32 | C/Y | 46 | rs769946776 | 0.1623 | None | gnomAD-4.0.0 | 1.16301E-05 | |
2111 | 34 | W/L | 48 | rs2092127553 | 0.0843 | None | gnomAD-4.0.0 | 1.59083E-06 | |
2113 | 36 | K/E | 50 | rs1574647040 | 0.2646 | None | gnomAD-4.0.0 | 1.59076E-06 | |
2114 | 37 | N/S | 51 | rs372289753 | 0.5484 | None | gnomAD-2.1.1 | 3.98E-06 | |
2114 | 37 | N/S | 51 | rs372289753 | 0.5484 | None | gnomAD-3.1.2 | 6.57E-06 | |
2114 | 37 | N/S | 51 | rs372289753 | 0.5484 | None | gnomAD-4.0.0 | 5.1231E-06 | |
2115 | 38 | G/A | 52 | None | 0.3829 | None | gnomAD-4.0.0 | 1.59077E-06 | |
2115 | 38 | G/C | 52 | rs1183661272 | 0.3829 | None | gnomAD-3.1.2 | 6.57E-06 | |
2115 | 38 | G/C | 52 | rs1183661272 | 0.3829 | None | gnomAD-4.0.0 | 2.02997E-06 | |
2116 | 39 | V/F | 55 | None | 0.6478 | None | gnomAD-4.0.0 | 1.59079E-06 | |
2116 | 39 | V/I | 55 | rs1412544693 | 0.6478 | None | gnomAD-2.1.1 | 3.98E-06 | |
2116 | 39 | V/I | 55 | rs1412544693 | 0.6478 | None | gnomAD-4.0.0 | 1.59079E-06 | |
2118 | 41 | I/T | 58 | rs56404770 | 0.1608 | None | gnomAD-2.1.1 | 1.66425E-03 | |
2118 | 41 | I/T | 58 | rs56404770 | 0.1608 | None | gnomAD-3.1.2 | 4.92426E-03 | |
2118 | 41 | I/T | 58 | rs56404770 | 0.1608 | None | 1000 genomes | 4.19329E-03 | |
2118 | 41 | I/T | 58 | rs56404770 | 0.1608 | None | gnomAD-4.0.0 | 9.27537E-04 | |
2119 | 42 | E/Q | 59 | rs869312098 | 0.9243 | None | gnomAD-4.0.0 | 4.77242E-06 | |
2120 | 43 | R/L | 70 | rs141142920 | 0.3777 | None | gnomAD-2.1.1 | 3.02765E-04 | |
2120 | 43 | R/L | 70 | rs141142920 | 0.3777 | None | gnomAD-3.1.2 | 5.92E-05 | |
2120 | 43 | R/L | 70 | rs141142920 | 0.3777 | None | 1000 genomes | 9.98403E-04 | |
2120 | 43 | R/L | 70 | rs141142920 | 0.3777 | None | gnomAD-4.0.0 | 1.20821E-04 | |
2120 | 43 | R/P | 70 | rs141142920 | 0.3777 | None | gnomAD-2.1.1 | 3.98E-06 | |
2120 | 43 | R/P | 70 | rs141142920 | 0.3777 | None | gnomAD-4.0.0 | 6.84126E-07 | |
2120 | 43 | R/Q | 70 | None | 0.3777 | None | gnomAD-2.1.1 | 1.38103E-04 | |
2120 | 43 | R/Q | 70 | None | 0.3777 | None | gnomAD-3.1.2 | 3.28697E-04 | |
2120 | 43 | R/Q | 70 | None | 0.3777 | None | gnomAD-4.0.0 | 1.49953E-04 | |
2120 | 43 | R/W | 70 | rs116158152 | 0.3777 | None | gnomAD-2.1.1 | 1.99E-05 | |
2120 | 43 | R/W | 70 | rs116158152 | 0.3777 | None | gnomAD-3.1.2 | 1.97E-05 | |
2120 | 43 | R/W | 70 | rs116158152 | 0.3777 | None | 1000 genomes | 1.99681E-04 | |
2120 | 43 | R/W | 70 | rs116158152 | 0.3777 | None | gnomAD-4.0.0 | 1.1153E-05 | |
2122 | 45 | D/E | 109 | rs2092123649 | 1.0928 | None | gnomAD-3.1.2 | 6.57E-06 | |
2122 | 45 | D/E | 109 | rs2092123649 | 1.0928 | None | gnomAD-4.0.0 | 6.57341E-06 | |
2122 | 45 | D/H | 109 | rs748790571 | 1.0928 | None | gnomAD-2.1.1 | 3.98E-06 | |
2122 | 45 | D/H | 109 | rs748790571 | 1.0928 | None | gnomAD-4.0.0 | 1.59079E-06 | |
2123 | 46 | R/L | 115 | rs530807674 | 0.2366 | None | gnomAD-2.1.1 | 1.42E-05 | |
2123 | 46 | R/L | 115 | rs530807674 | 0.2366 | None | gnomAD-3.1.2 | 2.63E-05 | |
2123 | 46 | R/L | 115 | rs530807674 | 0.2366 | None | 1000 genomes | 1.99681E-04 | |
2123 | 46 | R/L | 115 | rs530807674 | 0.2366 | None | gnomAD-4.0.0 | 8.67428E-06 | |
2123 | 46 | R/Q | 115 | rs530807674 | 0.2366 | None | gnomAD-2.1.1 | 3.19E-05 | |
2123 | 46 | R/Q | 115 | rs530807674 | 0.2366 | None | gnomAD-3.1.2 | 5.26E-05 | |
2123 | 46 | R/Q | 115 | rs530807674 | 0.2366 | None | gnomAD-4.0.0 | 2.2307E-05 | |
2123 | 46 | R/W | 115 | rs777316854 | 0.2366 | None | gnomAD-2.1.1 | 3.19E-05 | |
2123 | 46 | R/W | 115 | rs777316854 | 0.2366 | None | gnomAD-3.1.2 | 3.94E-05 | |
2123 | 46 | R/W | 115 | rs777316854 | 0.2366 | None | gnomAD-4.0.0 | 1.17732E-05 | |
2125 | 48 | Y/F | 122 | rs922207759 | 0.2404 | None | gnomAD-4.0.0 | 1.59073E-06 | |
2125 | 48 | Y/H | 122 | rs2092122812 | 0.2404 | None | gnomAD-3.1.2 | 6.57E-06 | |
2125 | 48 | Y/H | 122 | rs2092122812 | 0.2404 | None | gnomAD-4.0.0 | 2.56139E-06 | |
2126 | 49 | W/L | 123 | rs184312157 | 0.1519 | None | gnomAD-2.1.1 | 3.98E-06 | |
2126 | 49 | W/L | 123 | rs184312157 | 0.1519 | None | gnomAD-3.1.2 | 6.57E-06 | |
2126 | 49 | W/L | 123 | rs184312157 | 0.1519 | None | 1000 genomes | 1.99681E-04 | |
2126 | 49 | W/L | 123 | rs184312157 | 0.1519 | None | gnomAD-4.0.0 | 6.56763E-06 | |
2126 | 49 | W/R | 123 | rs1236527703 | 0.1519 | None | gnomAD-2.1.1 | 3.98E-06 | |
2126 | 49 | W/R | 123 | rs1236527703 | 0.1519 | None | gnomAD-4.0.0 | 1.59074E-06 | |
2127 | 50 | Y/C | 124 | rs397517688 | 0.3002 | None | gnomAD-3.1.2 | 6.57E-06 | |
2127 | 50 | Y/C | 124 | rs397517688 | 0.3002 | None | gnomAD-4.0.0 | 6.81577E-06 | |
2127 | 50 | Y/H | 124 | None | 0.3002 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2128 | 51 | W/R | 125 | rs866674875 | 0.3849 | None | gnomAD-4.0.0 | 1.59072E-06 | |
2128 | 51 | W/S | 125 | rs751340835 | 0.3849 | None | gnomAD-2.1.1 | 7.97E-06 | |
2128 | 51 | W/S | 125 | rs751340835 | 0.3849 | None | gnomAD-4.0.0 | 4.77213E-06 | |
2129 | 52 | P/A | 127 | rs1216558940 | 0.3263 | None | gnomAD-2.1.1 | 3.98E-06 | |
2129 | 52 | P/A | 127 | rs1216558940 | 0.3263 | None | gnomAD-4.0.0 | 1.59075E-06 | |
2130 | 53 | E/K | 130 | rs762914675 | 0.3091 | None | gnomAD-2.1.1 | 4.38E-05 | |
2130 | 53 | E/K | 130 | rs762914675 | 0.3091 | None | gnomAD-3.1.2 | 6.57E-06 | |
2130 | 53 | E/K | 130 | rs762914675 | 0.3091 | None | gnomAD-4.0.0 | 1.92087E-05 | |
2131 | 54 | D/H | 131 | None | 1.0154 | None | gnomAD-4.0.0 | 6.84111E-07 | |
2131 | 54 | D/N | 131 | None | 1.0154 | None | gnomAD-4.0.0 | 6.84111E-07 | |
2132 | 55 | N/H | 134 | None | 0.3818 | None | gnomAD-4.0.0 | 2.40064E-06 | |
2133 | 56 | V/I | 135 | None | 0.0640 | None | gnomAD-4.0.0 | 1.59071E-06 | |
2136 | 59 | L/F | 138 | rs761940711 | 0.0708 | None | gnomAD-2.1.1 | 3.98E-06 | |
2136 | 59 | L/F | 138 | rs761940711 | 0.0708 | None | gnomAD-3.1.2 | 1.32E-05 | |
2136 | 59 | L/F | 138 | rs761940711 | 0.0708 | None | gnomAD-4.0.0 | 2.47854E-06 | |
2137 | 60 | V/I | 139 | rs938420145 | 0.0883 | None | gnomAD-3.1.2 | 1.31E-05 | |
2137 | 60 | V/I | 139 | rs938420145 | 0.0883 | None | gnomAD-4.0.0 | 6.56797E-06 | |
2138 | 61 | I/M | 140 | rs368391123 | 0.1444 | None | gnomAD-3.1.2 | 1.31E-05 | |
2138 | 61 | I/M | 140 | rs368391123 | 0.1444 | None | gnomAD-4.0.0 | 3.04488E-06 | |
2138 | 61 | I/V | 140 | rs2092116298 | 0.1444 | None | gnomAD-4.0.0 | 1.59068E-06 | |
2139 | 62 | R/T | 141 | rs1250660325 | 0.3560 | None | gnomAD-3.1.2 | 6.57E-06 | |
2139 | 62 | R/T | 141 | rs1250660325 | 0.3560 | None | gnomAD-4.0.0 | 6.57333E-06 | |
2140 | 63 | D/E | 143 | rs777009984 | 0.6429 | None | gnomAD-2.1.1 | 5.67E-05 | |
2140 | 63 | D/E | 143 | rs777009984 | 0.6429 | None | gnomAD-3.1.2 | 5.91E-05 | |
2140 | 63 | D/E | 143 | rs777009984 | 0.6429 | None | gnomAD-4.0.0 | 3.53174E-05 | |
2142 | 65 | T/S | 145 | None | 0.2787 | None | gnomAD-4.0.0 | 6.84114E-06 | |
2143 | 66 | A/V | 146 | rs1561277273 | 0.4429 | None | gnomAD-2.1.1 | 3.98E-06 | |
2144 | 67 | E/K | 148 | rs747447866 | 0.8439 | None | gnomAD-2.1.1 | 3.98E-06 | |
2144 | 67 | E/K | 148 | rs747447866 | 0.8439 | None | gnomAD-4.0.0 | 1.59074E-06 | |
2145 | 68 | D/N | 149 | None | 0.1614 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2146 | 69 | S/F | 151 | None | 0.2999 | None | gnomAD-4.0.0 | 1.59071E-06 | |
2147 | 70 | A/T | 152 | rs528516043 | 0.1300 | None | gnomAD-2.1.1 | 3.99E-06 | |
2147 | 70 | A/T | 152 | rs528516043 | 0.1300 | None | gnomAD-3.1.2 | 6.57E-06 | |
2147 | 70 | A/T | 152 | rs528516043 | 0.1300 | None | 1000 genomes | 1.99681E-04 | |
2147 | 70 | A/T | 152 | rs528516043 | 0.1300 | None | gnomAD-4.0.0 | 2.47826E-06 | |
2148 | 71 | S/N | 153 | rs2092111633 | 0.2684 | None | gnomAD-4.0.0 | 1.59072E-06 | |
2149 | 72 | I/L | 154 | rs967525723 | 0.1006 | None | gnomAD-3.1.2 | 6.57E-06 | |
2149 | 72 | I/L | 154 | rs967525723 | 0.1006 | None | gnomAD-4.0.0 | 6.57082E-06 | |
2149 | 72 | I/V | 154 | rs967525723 | 0.1006 | None | gnomAD-4.0.0 | 1.36821E-06 | |
2150 | 73 | M/T | 155 | rs761352132 | 0.1859 | None | gnomAD-2.1.1 | 1.59E-05 | |
2150 | 73 | M/T | 155 | rs761352132 | 0.1859 | None | gnomAD-3.1.2 | 2.63E-05 | |
2150 | 73 | M/T | 155 | rs761352132 | 0.1859 | None | gnomAD-4.0.0 | 1.92074E-05 | |
2150 | 73 | M/V | 155 | None | 0.1859 | None | gnomAD-4.0.0 | 4.77202E-06 | |
2151 | 74 | V/A | 156 | None | 0.0940 | None | gnomAD-4.0.0 | 1.59066E-06 | |
2151 | 74 | V/I | 156 | rs755654942 | 0.0940 | None | gnomAD-2.1.1 | 3.98E-06 | |
2151 | 74 | V/I | 156 | rs755654942 | 0.0940 | None | gnomAD-4.0.0 | 1.59065E-06 | |
2152 | 75 | K/Q | 157 | None | 0.2247 | None | gnomAD-4.0.0 | 1.59064E-06 | |
2153 | 76 | A/P | 158 | rs747598396 | 0.1072 | None | gnomAD-2.1.1 | 3.99E-06 | |
2153 | 76 | A/P | 158 | rs747598396 | 0.1072 | None | gnomAD-4.0.0 | 1.59068E-06 | |
2153 | 76 | A/T | 158 | rs747598396 | 0.1072 | None | gnomAD-2.1.1 | 3.99E-06 | |
2154 | 77 | I/M | 159 | rs780879621 | 0.2702 | None | gnomAD-2.1.1 | 7.97E-06 | |
2154 | 77 | I/M | 159 | rs780879621 | 0.2702 | None | gnomAD-4.0.0 | 2.73641E-06 | |
2154 | 77 | I/V | 159 | rs2154345699 | 0.2702 | None | gnomAD-4.0.0 | 2.05229E-06 | |
2155 | 78 | N/S | 161 | None | 0.1461 | None | gnomAD-4.0.0 | 3.18128E-06 | |
2156 | 79 | I/L | 162 | rs751393901 | 0.9019 | None | gnomAD-2.1.1 | 7.97E-06 | |
2156 | 79 | I/L | 162 | rs751393901 | 0.9019 | None | gnomAD-4.0.0 | 1.36819E-06 | |
2156 | 79 | I/T | 162 | None | 0.9019 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2156 | 79 | I/V | 162 | rs751393901 | 0.9019 | None | gnomAD-2.1.1 | 3.19E-05 | |
2156 | 79 | I/V | 162 | rs751393901 | 0.9019 | None | gnomAD-3.1.2 | 6.57E-06 | |
2156 | 79 | I/V | 162 | rs751393901 | 0.9019 | None | gnomAD-4.0.0 | 6.19594E-06 | |
2157 | 80 | A/T | 163 | None | 0.6512 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2157 | 80 | A/V | 163 | rs1217516150 | 0.6512 | None | gnomAD-2.1.1 | 3.98E-06 | |
2157 | 80 | A/V | 163 | rs1217516150 | 0.6512 | None | gnomAD-4.0.0 | 9.57731E-06 | |
2158 | 81 | G/A | 164 | None | 0.2841 | None | gnomAD-4.0.0 | 1.32035E-05 | |
2158 | 81 | G/R | 164 | None | 0.2841 | None | gnomAD-4.0.0 | 1.59064E-06 | |
2160 | 83 | T/A | 166 | rs397517693 | 0.2691 | None | gnomAD-2.1.1 | 3.54E-05 | |
2160 | 83 | T/A | 166 | rs397517693 | 0.2691 | None | gnomAD-3.1.2 | 2.63E-05 | |
2160 | 83 | T/A | 166 | rs397517693 | 0.2691 | None | 1000 genomes | 1.99681E-04 | |
2160 | 83 | T/A | 166 | rs397517693 | 0.2691 | None | gnomAD-4.0.0 | 4.02744E-05 | |
2160 | 83 | T/I | 166 | rs750401975 | 0.2691 | None | gnomAD-2.1.1 | 3.98E-06 | |
2160 | 83 | T/I | 166 | rs750401975 | 0.2691 | None | gnomAD-4.0.0 | 2.05229E-06 | |
2160 | 83 | T/N | 166 | None | 0.2691 | None | gnomAD-4.0.0 | 6.84097E-07 | |
2161 | 84 | S/T | 168 | None | 0.3291 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2162 | 85 | S/R | 169 | rs2092105586 | 0.1222 | None | gnomAD-4.0.0 | 8.40225E-06 | |
2162 | 85 | S/T | 169 | None | 0.1222 | None | gnomAD-4.0.0 | 1.59064E-06 | |
2163 | 86 | H/L | 171 | rs765031763 | 0.6131 | None | gnomAD-2.1.1 | 3.98E-06 | |
2163 | 86 | H/L | 171 | rs765031763 | 0.6131 | None | gnomAD-4.0.0 | 4.78868E-06 | |
2164 | 87 | A/S | 172 | None | 0.0953 | None | gnomAD-4.0.0 | 6.84115E-07 | |
2164 | 87 | A/T | 172 | rs56285559 | 0.0953 | None | gnomAD-2.1.1 | 1.38128E-04 | |
2164 | 87 | A/T | 172 | rs56285559 | 0.0953 | None | gnomAD-3.1.2 | 2.63E-05 | |
2164 | 87 | A/T | 172 | rs56285559 | 0.0953 | None | gnomAD-4.0.0 | 4.52329E-05 | |
2164 | 87 | A/V | 172 | rs1338410239 | 0.0953 | None | gnomAD-2.1.1 | 7.08E-06 | |
2164 | 87 | A/V | 172 | rs1338410239 | 0.0953 | None | gnomAD-3.1.2 | 1.97E-05 | |
2164 | 87 | A/V | 172 | rs1338410239 | 0.0953 | None | gnomAD-4.0.0 | 6.40352E-06 | |
2167 | 90 | L/F | 175 | None | 0.5277 | None | gnomAD-4.0.0 | 2.05238E-06 | |
2168 | 91 | V/D | 177 | None | 0.1590 | None | gnomAD-4.0.0 | 1.59086E-06 | |
2168 | 91 | V/I | 177 | rs764454260 | 0.1590 | None | gnomAD-2.1.1 | 3.98E-06 | |
2168 | 91 | V/I | 177 | rs764454260 | 0.1590 | None | gnomAD-4.0.0 | 1.59089E-06 |