10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | C | D | P | P | G | R | P | E | A | I | V | I | T | R | N | N | V | T | L | K | W | K | K | P | A | Y | D | G | G | S | K | I | T | G | Y | I | V | E | K | K | D | L | P | D | G | R | W | M | K | A | S | F | T | N | V | L | E | T | E | F | T | V | S | G | L | V | E | D | Q | R | Y | E | F | R | V | I | A | R | N | A | A | G | N | F | S | E | P | S | D | S | S | G | A | I | T | A | R | D |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
27170 | 1 | P/L | 1 | rs774553407 | 0.8682 | None | gnomAD-2.1.1 | 4.03E-06 | |
27170 | 1 | P/L | 1 | rs774553407 | 0.8682 | None | gnomAD-4.0.0 | 1.59194E-06 | |
27171 | 2 | C/R | 2 | rs727504678 | 0.1270 | None | gnomAD-2.1.1 | 1.61E-05 | |
27171 | 2 | C/R | 2 | rs727504678 | 0.1270 | None | gnomAD-3.1.2 | 1.31E-05 | |
27171 | 2 | C/R | 2 | rs727504678 | 0.1270 | None | gnomAD-4.0.0 | 7.43746E-06 | |
27171 | 2 | C/Y | 2 | None | 0.1270 | None | gnomAD-4.0.0 | 1.59192E-06 | |
27172 | 3 | D/G | 3 | rs1248956657 | 0.3230 | None | gnomAD-2.1.1 | 4.03E-06 | |
27172 | 3 | D/G | 3 | rs1248956657 | 0.3230 | None | gnomAD-4.0.0 | 6.84328E-07 | |
27172 | 3 | D/V | 3 | None | 0.3230 | None | gnomAD-4.0.0 | 6.15895E-06 | |
27173 | 4 | P/A | 4 | rs754325718 | 0.3252 | None | gnomAD-2.1.1 | 6.44E-05 | |
27173 | 4 | P/A | 4 | rs754325718 | 0.3252 | None | gnomAD-3.1.2 | 1.24972E-04 | |
27173 | 4 | P/A | 4 | rs754325718 | 0.3252 | None | gnomAD-4.0.0 | 6.9423E-05 | |
27173 | 4 | P/L | 4 | rs766831675 | 0.3252 | None | gnomAD-4.0.0 | 1.09495E-05 | |
27174 | 5 | P/L | 5 | None | 0.1206 | None | gnomAD-4.0.0 | 5.47467E-06 | |
27174 | 5 | P/R | 5 | None | 0.1206 | None | gnomAD-4.0.0 | 1.36867E-06 | |
27175 | 6 | G/A | 6 | None | 0.2253 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27175 | 6 | G/D | 6 | rs1704984751 | 0.2253 | None | gnomAD-3.1.2 | 6.57E-06 | |
27175 | 6 | G/D | 6 | rs1704984751 | 0.2253 | None | gnomAD-4.0.0 | 6.57471E-06 | |
27175 | 6 | G/S | 6 | rs749305586 | 0.2253 | None | gnomAD-2.1.1 | 1.21E-05 | |
27175 | 6 | G/S | 6 | rs749305586 | 0.2253 | None | gnomAD-3.1.2 | 6.58E-06 | |
27175 | 6 | G/S | 6 | rs749305586 | 0.2253 | None | gnomAD-4.0.0 | 8.05774E-06 | |
27176 | 7 | R/C | 7 | rs778385749 | 0.3503 | None | gnomAD-2.1.1 | 1.21E-05 | |
27176 | 7 | R/C | 7 | rs778385749 | 0.3503 | None | gnomAD-4.0.0 | 2.66894E-05 | |
27176 | 7 | R/G | 7 | rs778385749 | 0.3503 | None | gnomAD-4.0.0 | 2.73738E-06 | |
27176 | 7 | R/H | 7 | rs199726308 | 0.3503 | None | gnomAD-2.1.1 | 3.58E-05 | |
27176 | 7 | R/H | 7 | rs199726308 | 0.3503 | None | gnomAD-3.1.2 | 1.97E-05 | |
27176 | 7 | R/H | 7 | rs199726308 | 0.3503 | None | gnomAD-4.0.0 | 7.43805E-06 | |
27176 | 7 | R/L | 7 | rs199726308 | 0.3503 | None | gnomAD-2.1.1 | 1.18033E-04 | |
27176 | 7 | R/L | 7 | rs199726308 | 0.3503 | None | gnomAD-3.1.2 | 1.7754E-04 | |
27176 | 7 | R/L | 7 | rs199726308 | 0.3503 | None | gnomAD-4.0.0 | 1.62397E-04 | |
27176 | 7 | R/S | 7 | None | 0.3503 | None | gnomAD-2.1.1 | 4.03E-06 | |
27176 | 7 | R/S | 7 | None | 0.3503 | None | gnomAD-4.0.0 | 6.84347E-07 | |
27177 | 8 | P/A | 9 | None | 0.1221 | None | gnomAD-4.0.0 | 6.84337E-07 | |
27177 | 8 | P/S | 9 | rs781633519 | 0.1221 | None | gnomAD-4.0.0 | 6.84337E-07 | |
27178 | 9 | E/K | 11 | rs397517721 | 0.7308 | None | gnomAD-3.1.2 | 1.32E-05 | |
27178 | 9 | E/K | 11 | rs397517721 | 0.7308 | None | gnomAD-4.0.0 | 1.31518E-05 | |
27180 | 11 | I/T | 13 | rs182126530 | 0.3858 | None | gnomAD-2.1.1 | 7.43883E-04 | |
27180 | 11 | I/T | 13 | rs182126530 | 0.3858 | None | gnomAD-3.1.2 | 1.72906E-03 | |
27180 | 11 | I/T | 13 | rs182126530 | 0.3858 | None | 1000 genomes | 9.98403E-04 | |
27180 | 11 | I/T | 13 | rs182126530 | 0.3858 | None | gnomAD-4.0.0 | 4.67309E-04 | |
27181 | 12 | V/A | 14 | rs750155984 | 0.4605 | None | gnomAD-2.1.1 | 4.03E-06 | |
27182 | 13 | I/F | 15 | rs879178329 | 0.1580 | None | gnomAD-2.1.1 | 4.03E-06 | |
27182 | 13 | I/F | 15 | rs879178329 | 0.1580 | None | gnomAD-4.0.0 | 6.84348E-07 | |
27182 | 13 | I/N | 15 | rs373448447 | 0.1580 | None | gnomAD-2.1.1 | 3.22E-05 | |
27182 | 13 | I/N | 15 | rs373448447 | 0.1580 | None | gnomAD-3.1.2 | 4.6E-05 | |
27182 | 13 | I/N | 15 | rs373448447 | 0.1580 | None | 1000 genomes | 3.99361E-04 | |
27182 | 13 | I/N | 15 | rs373448447 | 0.1580 | None | gnomAD-4.0.0 | 7.43719E-06 | |
27182 | 13 | I/V | 15 | rs879178329 | 0.1580 | None | gnomAD-3.1.2 | 6.57E-06 | |
27182 | 13 | I/V | 15 | rs879178329 | 0.1580 | None | gnomAD-4.0.0 | 1.23962E-06 | |
27183 | 14 | T/I | 16 | rs1559331817 | 0.1892 | None | gnomAD-2.1.1 | 4.03E-06 | |
27183 | 14 | T/I | 16 | rs1559331817 | 0.1892 | None | gnomAD-4.0.0 | 1.59203E-06 | |
27185 | 16 | N/D | 18 | None | 0.4768 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27185 | 16 | N/I | 18 | rs756828159 | 0.4768 | None | gnomAD-2.1.1 | 4.03E-06 | |
27185 | 16 | N/I | 18 | rs756828159 | 0.4768 | None | gnomAD-4.0.0 | 1.59206E-06 | |
27186 | 17 | N/K | 19 | None | 0.2600 | None | gnomAD-4.0.0 | 2.05308E-06 | |
27186 | 17 | N/S | 19 | rs368933290 | 0.2600 | None | gnomAD-4.0.0 | 1.59208E-06 | |
27187 | 18 | V/F | 20 | rs764117771 | 0.0894 | None | gnomAD-2.1.1 | 4.03E-06 | |
27187 | 18 | V/F | 20 | rs764117771 | 0.0894 | None | gnomAD-4.0.0 | 4.79063E-06 | |
27188 | 19 | T/I | 21 | None | 0.1588 | None | gnomAD-4.0.0 | 1.36877E-06 | |
27189 | 20 | L/V | 22 | rs142391957 | 0.0910 | None | gnomAD-2.1.1 | 2.51E-05 | |
27189 | 20 | L/V | 22 | rs142391957 | 0.0910 | None | gnomAD-3.1.2 | 8.55E-05 | |
27189 | 20 | L/V | 22 | rs142391957 | 0.0910 | None | 1000 genomes | 1.99681E-04 | |
27189 | 20 | L/V | 22 | rs142391957 | 0.0910 | None | gnomAD-4.0.0 | 1.54951E-05 | |
27191 | 22 | W/C | 24 | rs267599035 | 0.1119 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27192 | 23 | K/N | 25 | rs1188322990 | 0.8651 | None | gnomAD-4.0.0 | 1.59238E-06 | |
27193 | 24 | K/N | 26 | rs565307960 | 0.7615 | None | gnomAD-2.1.1 | 5.26E-05 | |
27193 | 24 | K/N | 26 | rs565307960 | 0.7615 | None | gnomAD-4.0.0 | 6.84501E-07 | |
27195 | 26 | A/V | 28 | None | 0.6903 | None | gnomAD-4.0.0 | 1.59254E-06 | |
27196 | 27 | Y/S | 29 | rs1704959686 | 0.4607 | None | gnomAD-3.1.2 | 1.31E-05 | |
27196 | 27 | Y/S | 29 | rs1704959686 | 0.4607 | None | gnomAD-4.0.0 | 1.31437E-05 | |
27197 | 28 | D/N | 30 | rs1704957831 | 0.2623 | None | gnomAD-3.1.2 | 6.57E-06 | |
27197 | 28 | D/N | 30 | rs1704957831 | 0.2623 | None | gnomAD-4.0.0 | 2.0299E-06 | |
27198 | 29 | G/D | 31 | rs1469148662 | 0.2566 | None | gnomAD-2.1.1 | 4.04E-06 | |
27198 | 29 | G/D | 31 | rs1469148662 | 0.2566 | None | gnomAD-4.0.0 | 1.59274E-06 | |
27199 | 30 | G/C | 32 | rs771111893 | 0.5145 | None | gnomAD-2.1.1 | 4.05E-06 | |
27199 | 30 | G/C | 32 | rs771111893 | 0.5145 | None | gnomAD-4.0.0 | 1.59297E-06 | |
27199 | 30 | G/D | 32 | None | 0.5145 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27200 | 31 | S/N | 33 | rs551750079 | 0.2695 | None | gnomAD-2.1.1 | 4.05E-06 | |
27200 | 31 | S/N | 33 | rs551750079 | 0.2695 | None | gnomAD-3.1.2 | 6.57E-06 | |
27200 | 31 | S/N | 33 | rs551750079 | 0.2695 | None | 1000 genomes | 1.99681E-04 | |
27200 | 31 | S/N | 33 | rs551750079 | 0.2695 | None | gnomAD-4.0.0 | 1.85979E-06 | |
27200 | 31 | S/R | 33 | rs773107849 | 0.2695 | None | gnomAD-4.0.0 | 6.84547E-07 | |
27201 | 32 | K/N | 34 | None | 0.6672 | None | gnomAD-4.0.0 | 1.59297E-06 | |
27203 | 34 | T/I | 36 | rs770336276 | 0.3026 | None | gnomAD-3.1.2 | 6.58E-06 | |
27203 | 34 | T/I | 36 | rs770336276 | 0.3026 | None | gnomAD-4.0.0 | 6.57601E-06 | |
27203 | 34 | T/K | 36 | rs770336276 | 0.3026 | None | gnomAD-2.1.1 | 8.12E-06 | |
27203 | 34 | T/K | 36 | rs770336276 | 0.3026 | None | gnomAD-3.1.2 | 6.58E-06 | |
27203 | 34 | T/K | 36 | rs770336276 | 0.3026 | None | gnomAD-4.0.0 | 5.58013E-06 | |
27204 | 35 | G/R | 37 | None | 0.0921 | None | gnomAD-4.0.0 | 1.36929E-06 | |
27206 | 37 | I/T | 39 | rs369868913 | 0.2405 | None | gnomAD-2.1.1 | 1.44E-05 | |
27206 | 37 | I/T | 39 | rs369868913 | 0.2405 | None | gnomAD-3.1.2 | 1.97E-05 | |
27206 | 37 | I/T | 39 | rs369868913 | 0.2405 | None | gnomAD-4.0.0 | 1.2402E-05 | |
27207 | 38 | V/A | 40 | rs755441250 | 0.0899 | None | gnomAD-2.1.1 | 1.63E-05 | |
27207 | 38 | V/A | 40 | rs755441250 | 0.0899 | None | gnomAD-4.0.0 | 7.97123E-06 | |
27207 | 38 | V/I | 40 | rs1348567940 | 0.0899 | None | gnomAD-2.1.1 | 4.07E-06 | |
27207 | 38 | V/I | 40 | rs1348567940 | 0.0899 | None | gnomAD-4.0.0 | 3.42381E-06 | |
27208 | 39 | E/D | 41 | None | 0.1550 | None | gnomAD-4.0.0 | 3.60097E-06 | |
27208 | 39 | E/K | 41 | None | 0.1550 | None | gnomAD-4.0.0 | 1.20033E-06 | |
27209 | 40 | K/N | 42 | None | 0.2112 | None | gnomAD-4.0.0 | 6.84885E-07 | |
27209 | 40 | K/R | 42 | None | 0.2112 | None | gnomAD-4.0.0 | 1.20033E-06 | |
27210 | 41 | K/E | 43 | None | 0.2187 | None | gnomAD-4.0.0 | 1.20033E-06 | |
27210 | 41 | K/T | 43 | rs1241055435 | 0.2187 | None | gnomAD-2.1.1 | 4.08E-06 | |
27210 | 41 | K/T | 43 | rs1241055435 | 0.2187 | None | gnomAD-4.0.0 | 1.59473E-06 | |
27211 | 42 | D/N | 44 | rs747343429 | 0.3902 | None | gnomAD-2.1.1 | 4.09E-06 | |
27211 | 42 | D/N | 44 | rs747343429 | 0.3902 | None | gnomAD-4.0.0 | 2.73964E-06 | |
27213 | 44 | P/L | 54 | None | 0.6082 | None | gnomAD-4.0.0 | 1.59542E-06 | |
27213 | 44 | P/S | 54 | rs375058735 | 0.6082 | None | gnomAD-3.1.2 | 6.57E-06 | |
27213 | 44 | P/S | 54 | rs375058735 | 0.6082 | None | gnomAD-4.0.0 | 6.57298E-06 | |
27213 | 44 | P/T | 54 | rs375058735 | 0.6082 | None | gnomAD-2.1.1 | 4.09E-06 | |
27214 | 45 | D/A | 60 | rs1704936651 | 0.9219 | None | gnomAD-4.0.0 | 3.42485E-06 | |
27214 | 45 | D/N | 60 | None | 0.9219 | None | gnomAD-4.0.0 | 6.85014E-07 | |
27215 | 46 | G/S | 63 | rs1704934974 | 0.2981 | None | gnomAD-3.1.2 | 6.57E-06 | |
27215 | 46 | G/S | 63 | rs1704934974 | 0.2981 | None | gnomAD-4.0.0 | 6.57289E-06 | |
27215 | 46 | G/V | 63 | None | 0.2981 | None | gnomAD-4.0.0 | 2.74013E-06 | |
27216 | 47 | R/C | 64 | rs756815015 | 0.7497 | None | gnomAD-2.1.1 | 1.09E-05 | |
27216 | 47 | R/C | 64 | rs756815015 | 0.7497 | None | gnomAD-3.1.2 | 1.97E-05 | |
27216 | 47 | R/C | 64 | rs756815015 | 0.7497 | None | gnomAD-4.0.0 | 1.11676E-05 | |
27216 | 47 | R/H | 64 | rs371910831 | 0.7497 | None | gnomAD-2.1.1 | 3.27E-05 | |
27216 | 47 | R/H | 64 | rs371910831 | 0.7497 | None | gnomAD-3.1.2 | 4.6E-05 | |
27216 | 47 | R/H | 64 | rs371910831 | 0.7497 | None | gnomAD-4.0.0 | 2.544E-05 | |
27217 | 48 | W/C | 65 | rs1704929836 | 0.2692 | None | gnomAD-3.1.2 | 6.57E-06 | |
27217 | 48 | W/C | 65 | rs1704929836 | 0.2692 | None | gnomAD-4.0.0 | 6.57246E-06 | |
27218 | 49 | M/T | 66 | rs1332904652 | 0.3257 | None | gnomAD-4.0.0 | 2.40065E-06 | |
27219 | 50 | K/T | 67 | None | 0.5360 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27220 | 51 | A/V | 68 | rs1356967920 | 0.1358 | None | gnomAD-4.0.0 | 6.85005E-07 | |
27221 | 52 | S/R | 69 | rs1399668147 | 0.1130 | None | gnomAD-2.1.1 | 3.19E-05 | |
27221 | 52 | S/R | 69 | rs1399668147 | 0.1130 | None | gnomAD-3.1.2 | 6.57E-06 | |
27221 | 52 | S/R | 69 | rs1399668147 | 0.1130 | None | gnomAD-4.0.0 | 6.57333E-06 | |
27223 | 54 | T/I | 72 | rs755648922 | 0.7645 | None | gnomAD-2.1.1 | 4.1E-06 | |
27223 | 54 | T/I | 72 | rs755648922 | 0.7645 | None | gnomAD-4.0.0 | 6.16495E-06 | |
27224 | 55 | N/S | 75 | rs368443217 | 0.4629 | None | gnomAD-2.1.1 | 9.08E-05 | |
27224 | 55 | N/S | 75 | rs368443217 | 0.4629 | None | gnomAD-3.1.2 | 1.18298E-04 | |
27224 | 55 | N/S | 75 | rs368443217 | 0.4629 | None | 1000 genomes | 1.99681E-04 | |
27224 | 55 | N/S | 75 | rs368443217 | 0.4629 | None | gnomAD-4.0.0 | 1.77392E-04 | |
27225 | 56 | V/I | 77 | rs375211424 | 0.1103 | None | gnomAD-2.1.1 | 8.36E-05 | |
27225 | 56 | V/I | 77 | rs375211424 | 0.1103 | None | gnomAD-3.1.2 | 1.77491E-04 | |
27225 | 56 | V/I | 77 | rs375211424 | 0.1103 | None | 1000 genomes | 1.99681E-04 | |
27225 | 56 | V/I | 77 | rs375211424 | 0.1103 | None | gnomAD-4.0.0 | 5.70667E-05 | |
27225 | 56 | V/L | 77 | None | 0.1103 | None | gnomAD-4.0.0 | 6.84972E-07 | |
27229 | 60 | E/K | 90 | None | 0.3688 | None | gnomAD-4.0.0 | 1.59442E-06 | |
27231 | 62 | T/I | 92 | rs1704907132 | 0.3282 | None | gnomAD-3.1.2 | 6.57E-06 | |
27231 | 62 | T/I | 92 | rs1704907132 | 0.3282 | None | gnomAD-4.0.0 | 1.8604E-06 | |
27232 | 63 | V/A | 93 | None | 0.1247 | None | gnomAD-4.0.0 | 3.60097E-06 | |
27232 | 63 | V/M | 93 | rs2154162679 | 0.1247 | None | gnomAD-4.0.0 | 1.59378E-06 | |
27233 | 64 | S/N | 94 | None | 0.6486 | None | gnomAD-4.0.0 | 1.59359E-06 | |
27234 | 65 | G/E | 96 | rs372189553 | 0.5329 | None | gnomAD-2.1.1 | 3.96E-05 | |
27234 | 65 | G/E | 96 | rs372189553 | 0.5329 | None | gnomAD-3.1.2 | 5.26E-05 | |
27234 | 65 | G/E | 96 | rs372189553 | 0.5329 | None | gnomAD-4.0.0 | 3.96824E-05 | |
27235 | 66 | L/P | 97 | None | 0.1263 | None | gnomAD-4.0.0 | 4.80129E-06 | |
27235 | 66 | L/V | 97 | None | 0.1263 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27236 | 67 | V/L | 98 | rs763018145 | 0.5387 | None | gnomAD-2.1.1 | 1.62E-05 | |
27236 | 67 | V/L | 98 | rs763018145 | 0.5387 | None | gnomAD-3.1.2 | 1.31E-05 | |
27236 | 67 | V/L | 98 | rs763018145 | 0.5387 | None | gnomAD-4.0.0 | 9.30021E-06 | |
27238 | 69 | D/Y | 100 | None | 0.7338 | None | gnomAD-4.0.0 | 1.36899E-06 | |
27239 | 70 | Q/E | 102 | None | 0.2646 | None | gnomAD-4.0.0 | 1.59268E-06 | |
27240 | 71 | R/I | 103 | rs1704895564 | 0.5625 | None | gnomAD-4.0.0 | 4.77754E-06 | |
27240 | 71 | R/S | 103 | rs1704894425 | 0.5625 | None | gnomAD-3.1.2 | 6.57E-06 | |
27240 | 71 | R/S | 103 | rs1704894425 | 0.5625 | None | gnomAD-4.0.0 | 6.57255E-06 | |
27241 | 72 | Y/H | 104 | rs773476805 | 0.0931 | None | gnomAD-2.1.1 | 4.04E-06 | |
27241 | 72 | Y/H | 104 | rs773476805 | 0.0931 | None | gnomAD-4.0.0 | 3.18443E-06 | |
27242 | 73 | E/G | 105 | None | 0.2023 | None | gnomAD-4.0.0 | 1.36873E-06 | |
27242 | 73 | E/V | 105 | rs1210575101 | 0.2023 | None | gnomAD-2.1.1 | 4.04E-06 | |
27242 | 73 | E/V | 105 | rs1210575101 | 0.2023 | None | gnomAD-4.0.0 | 6.84363E-07 | |
27244 | 75 | R/T | 107 | None | 0.1391 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27245 | 76 | V/L | 108 | rs777316227 | 0.0740 | None | gnomAD-2.1.1 | 4.03E-06 | |
27245 | 76 | V/L | 108 | rs777316227 | 0.0740 | None | gnomAD-4.0.0 | 1.02648E-05 | |
27246 | 77 | I/T | 109 | rs367603381 | 0.1447 | None | gnomAD-2.1.1 | 3.22E-05 | |
27246 | 77 | I/T | 109 | rs367603381 | 0.1447 | None | gnomAD-3.1.2 | 3.29E-05 | |
27246 | 77 | I/T | 109 | rs367603381 | 0.1447 | None | gnomAD-4.0.0 | 2.04534E-05 | |
27246 | 77 | I/V | 109 | None | 0.1447 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27247 | 78 | A/E | 110 | None | 0.0855 | None | gnomAD-4.0.0 | 6.84298E-07 | |
27247 | 78 | A/V | 110 | rs374380013 | 0.0855 | None | gnomAD-2.1.1 | 4.03E-06 | |
27247 | 78 | A/V | 110 | rs374380013 | 0.0855 | None | gnomAD-3.1.2 | 6.58E-06 | |
27247 | 78 | A/V | 110 | rs374380013 | 0.0855 | None | gnomAD-4.0.0 | 1.23959E-06 | |
27248 | 79 | R/I | 111 | None | 0.4147 | None | gnomAD-4.0.0 | 7.95872E-06 | |
27250 | 81 | A/T | 113 | None | 0.3526 | None | gnomAD-4.0.0 | 2.40064E-06 | |
27250 | 81 | A/V | 113 | None | 0.3526 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27251 | 82 | A/T | 114 | None | 0.4727 | None | gnomAD-4.0.0 | 1.59162E-06 | |
27253 | 84 | N/K | 116 | None | 0.5712 | None | gnomAD-4.0.0 | 2.73706E-06 | |
27253 | 84 | N/S | 116 | rs529055709 | 0.5712 | None | gnomAD-2.1.1 | 1.25061E-04 | |
27253 | 84 | N/S | 116 | rs529055709 | 0.5712 | None | gnomAD-3.1.2 | 7.89E-05 | |
27253 | 84 | N/S | 116 | rs529055709 | 0.5712 | None | 1000 genomes | 5.99042E-04 | |
27253 | 84 | N/S | 116 | rs529055709 | 0.5712 | None | gnomAD-4.0.0 | 2.97456E-05 | |
27254 | 85 | F/L | 117 | rs958378883 | 0.4550 | None | gnomAD-2.1.1 | 4.02E-06 | |
27254 | 85 | F/L | 117 | rs958378883 | 0.4550 | None | gnomAD-4.0.0 | 1.02638E-05 | |
27255 | 86 | S/R | 118 | None | 0.1094 | None | gnomAD-4.0.0 | 6.84249E-07 | |
27256 | 87 | E/G | 119 | rs748963818 | 0.6061 | None | gnomAD-2.1.1 | 4.43E-05 | |
27256 | 87 | E/G | 119 | rs748963818 | 0.6061 | None | gnomAD-4.0.0 | 1.09481E-05 | |
27257 | 88 | P/L | 120 | None | 0.3096 | None | gnomAD-4.0.0 | 1.59149E-06 | |
27258 | 89 | S/C | 121 | rs755629282 | 0.1119 | None | gnomAD-2.1.1 | 4.02E-06 | |
27258 | 89 | S/C | 121 | rs755629282 | 0.1119 | None | gnomAD-4.0.0 | 6.84246E-07 | |
27258 | 89 | S/Y | 121 | None | 0.1119 | None | gnomAD-4.0.0 | 6.84246E-07 | |
27259 | 90 | D/A | 122 | None | 0.6201 | None | gnomAD-4.0.0 | 6.84241E-07 | |
27259 | 90 | D/G | 122 | rs1704865005 | 0.6201 | None | gnomAD-4.0.0 | 6.84241E-07 | |
27259 | 90 | D/V | 122 | None | 0.6201 | None | gnomAD-4.0.0 | 6.84241E-07 | |
27260 | 91 | S/T | 123 | rs752173731 | 0.2116 | None | gnomAD-2.1.1 | 8.05E-06 | |
27260 | 91 | S/T | 123 | rs752173731 | 0.2116 | None | gnomAD-4.0.0 | 3.18286E-06 | |
27261 | 92 | S/G | 124 | None | 0.2299 | None | gnomAD-4.0.0 | 1.59146E-06 | |
27261 | 92 | S/T | 124 | rs1704859697 | 0.2299 | None | gnomAD-3.1.2 | 6.57E-06 | |
27261 | 92 | S/T | 124 | rs1704859697 | 0.2299 | None | gnomAD-4.0.0 | 2.56249E-06 | |
27264 | 95 | I/L | 127 | None | 0.1673 | None | gnomAD-4.0.0 | 1.59143E-06 | |
27264 | 95 | I/V | 127 | rs1704855362 | 0.1673 | None | gnomAD-3.1.2 | 6.57E-06 | |
27264 | 95 | I/V | 127 | rs1704855362 | 0.1673 | None | gnomAD-4.0.0 | 2.56236E-06 | |
27265 | 96 | T/I | 129 | rs371129005 | 0.2801 | None | gnomAD-2.1.1 | 3.22E-05 | |
27265 | 96 | T/I | 129 | rs371129005 | 0.2801 | None | gnomAD-3.1.2 | 1.05195E-04 | |
27265 | 96 | T/I | 129 | rs371129005 | 0.2801 | None | gnomAD-4.0.0 | 1.54936E-05 | |
27266 | 97 | A/S | 130 | rs2154162524 | 0.0686 | None | gnomAD-4.0.0 | 1.20033E-06 | |
27267 | 98 | R/K | 131 | rs975294048 | 0.5884 | None | gnomAD-3.1.2 | 1.31E-05 | |
27267 | 98 | R/K | 131 | rs975294048 | 0.5884 | None | gnomAD-4.0.0 | 1.31499E-05 |