10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | 100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
L | P | G | P | P | G | K | P | K | V | L | A | R | T | K | G | S | M | L | V | S | W | T | P | P | L | D | N | G | G | S | P | I | T | G | Y | W | L | E | K | R | E | E | G | S | P | Y | W | S | R | V | S | R | A | P | I | T | K | V | G | L | K | G | V | E | F | N | V | P | R | L | L | E | G | V | K | Y | Q | F | R | A | M | A | I | N | A | A | G | I | G | P | P | S | E | P | S | D | P | E | V | A | G | D |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
18166 | 1 | L/F | 1 | rs878953621 | 0.6060 | None | gnomAD-4.0.0 | 6.84993E-07 | |
18168 | 3 | G/R | 3 | rs2054202979 | 0.2316 | None | gnomAD-3.1.2 | 6.58E-06 | |
18168 | 3 | G/R | 3 | rs2054202979 | 0.2316 | None | gnomAD-4.0.0 | 6.58207E-06 | |
18169 | 4 | P/H | 4 | rs2054202479 | 0.4571 | None | gnomAD-3.1.2 | 6.58E-06 | |
18169 | 4 | P/H | 4 | rs2054202479 | 0.4571 | None | gnomAD-4.0.0 | 6.58094E-06 | |
18169 | 4 | P/L | 4 | None | 0.4571 | None | gnomAD-4.0.0 | 2.05477E-06 | |
18169 | 4 | P/R | 4 | None | 0.4571 | None | gnomAD-4.0.0 | 6.84925E-07 | |
18171 | 6 | G/R | 6 | rs751216891 | 0.2385 | None | gnomAD-2.1.1 | 4.04E-06 | |
18171 | 6 | G/R | 6 | rs751216891 | 0.2385 | None | gnomAD-4.0.0 | 3.42444E-06 | |
18172 | 7 | K/T | 7 | rs1236991246 | 0.3239 | None | gnomAD-2.1.1 | 4.04E-06 | |
18172 | 7 | K/T | 7 | rs1236991246 | 0.3239 | None | gnomAD-3.1.2 | 6.58E-06 | |
18172 | 7 | K/T | 7 | rs1236991246 | 0.3239 | None | gnomAD-4.0.0 | 3.85074E-06 | |
18173 | 8 | P/Q | 9 | rs794729458 | 0.1259 | None | gnomAD-2.1.1 | 4.04E-06 | |
18173 | 8 | P/Q | 9 | rs794729458 | 0.1259 | None | gnomAD-3.1.2 | 5.27E-05 | |
18173 | 8 | P/Q | 9 | rs794729458 | 0.1259 | None | gnomAD-4.0.0 | 1.1167E-05 | |
18173 | 8 | P/S | 9 | rs766074604 | 0.1259 | None | gnomAD-2.1.1 | 2.36557E-04 | |
18173 | 8 | P/S | 9 | rs766074604 | 0.1259 | None | gnomAD-3.1.2 | 5.27E-05 | |
18173 | 8 | P/S | 9 | rs766074604 | 0.1259 | None | gnomAD-4.0.0 | 9.62894E-05 | |
18174 | 9 | K/N | 11 | None | 0.7173 | None | gnomAD-3.1.2 | 6.58E-06 | |
18174 | 9 | K/N | 11 | None | 0.7173 | None | gnomAD-4.0.0 | 1.24062E-06 | |
18175 | 10 | V/I | 12 | rs776320086 | 0.2569 | None | gnomAD-2.1.1 | 8.07E-06 | |
18175 | 10 | V/I | 12 | rs776320086 | 0.2569 | None | gnomAD-4.0.0 | 5.4788E-06 | |
18175 | 10 | V/L | 12 | None | 0.2569 | None | gnomAD-4.0.0 | 1.3697E-06 | |
18176 | 11 | L/F | 13 | rs553262724 | 0.5541 | None | gnomAD-2.1.1 | 3.19E-05 | |
18176 | 11 | L/F | 13 | rs553262724 | 0.5541 | None | gnomAD-3.1.2 | 6.58E-06 | |
18176 | 11 | L/F | 13 | rs553262724 | 0.5541 | None | gnomAD-4.0.0 | 4.34202E-06 | |
18176 | 11 | L/M | 13 | rs1211482141 | 0.5541 | None | gnomAD-2.1.1 | 4.04E-06 | |
18176 | 11 | L/M | 13 | rs1211482141 | 0.5541 | None | gnomAD-3.1.2 | 6.58E-06 | |
18176 | 11 | L/M | 13 | rs1211482141 | 0.5541 | None | gnomAD-4.0.0 | 2.48116E-06 | |
18176 | 11 | L/S | 13 | None | 0.5541 | None | gnomAD-4.0.0 | 1.3697E-06 | |
18177 | 12 | A/P | 14 | rs373546809 | 0.3897 | None | gnomAD-2.1.1 | 4.04E-06 | |
18177 | 12 | A/P | 14 | rs373546809 | 0.3897 | None | gnomAD-3.1.2 | 6.58E-06 | |
18177 | 12 | A/P | 14 | rs373546809 | 0.3897 | None | gnomAD-4.0.0 | 6.58233E-06 | |
18177 | 12 | A/T | 14 | None | 0.3897 | None | gnomAD-4.0.0 | 1.59486E-06 | |
18177 | 12 | A/V | 14 | None | 0.3897 | None | gnomAD-4.0.0 | 1.59478E-06 | |
18178 | 13 | R/C | 15 | rs554701601 | 0.4404 | None | gnomAD-2.1.1 | 2.51E-05 | |
18178 | 13 | R/C | 15 | rs554701601 | 0.4404 | None | gnomAD-3.1.2 | 2.63E-05 | |
18178 | 13 | R/C | 15 | rs554701601 | 0.4404 | None | 1000 genomes | 3.99361E-04 | |
18178 | 13 | R/C | 15 | rs554701601 | 0.4404 | None | gnomAD-4.0.0 | 2.48118E-05 | |
18178 | 13 | R/G | 15 | None | 0.4404 | None | gnomAD-4.0.0 | 6.84881E-07 | |
18178 | 13 | R/H | 15 | rs879023208 | 0.4404 | None | gnomAD-2.1.1 | 4.04E-06 | |
18178 | 13 | R/H | 15 | rs879023208 | 0.4404 | None | gnomAD-3.1.2 | 6.58E-06 | |
18178 | 13 | R/H | 15 | rs879023208 | 0.4404 | None | gnomAD-4.0.0 | 6.82426E-06 | |
18179 | 14 | T/A | 16 | None | 0.3516 | None | gnomAD-4.0.0 | 2.05441E-06 | |
18179 | 14 | T/I | 16 | rs765149899 | 0.3516 | None | gnomAD-2.1.1 | 4.04E-06 | |
18179 | 14 | T/I | 16 | rs765149899 | 0.3516 | None | gnomAD-4.0.0 | 1.59458E-06 | |
18180 | 15 | K/E | 17 | None | 0.5467 | None | gnomAD-4.0.0 | 1.59444E-06 | |
18180 | 15 | K/R | 17 | rs1283224972 | 0.5467 | None | gnomAD-2.1.1 | 4.04E-06 | |
18180 | 15 | K/R | 17 | rs1283224972 | 0.5467 | None | gnomAD-4.0.0 | 3.18897E-06 | |
18181 | 16 | G/E | 18 | rs776456385 | 0.2403 | None | gnomAD-4.0.0 | 6.84793E-07 | |
18181 | 16 | G/R | 18 | rs761810379 | 0.2403 | None | gnomAD-2.1.1 | 8.07E-06 | |
18181 | 16 | G/R | 18 | rs761810379 | 0.2403 | None | gnomAD-3.1.2 | 6.58E-06 | |
18181 | 16 | G/R | 18 | rs761810379 | 0.2403 | None | gnomAD-4.0.0 | 1.24051E-06 | |
18181 | 16 | G/V | 18 | rs776456385 | 0.2403 | None | gnomAD-2.1.1 | 8.07E-06 | |
18181 | 16 | G/V | 18 | rs776456385 | 0.2403 | None | gnomAD-4.0.0 | 1.36959E-06 | |
18182 | 17 | S/L | 19 | rs1470054004 | 0.2060 | None | gnomAD-3.1.2 | 6.58E-06 | |
18182 | 17 | S/L | 19 | rs1470054004 | 0.2060 | None | gnomAD-4.0.0 | 2.56678E-06 | |
18183 | 18 | M/I | 20 | rs1217449889 | 0.0838 | None | gnomAD-2.1.1 | 3.19E-05 | |
18183 | 18 | M/I | 20 | rs1217449889 | 0.0838 | None | gnomAD-3.1.2 | 6.58E-06 | |
18183 | 18 | M/I | 20 | rs1217449889 | 0.0838 | None | gnomAD-4.0.0 | 6.58085E-06 | |
18183 | 18 | M/V | 20 | rs1214008596 | 0.0838 | None | gnomAD-3.1.2 | 6.58E-06 | |
18183 | 18 | M/V | 20 | rs1214008596 | 0.0838 | None | gnomAD-4.0.0 | 6.57929E-06 | |
18187 | 22 | W/C | 24 | rs2054184713 | 0.1179 | None | gnomAD-3.1.2 | 6.58E-06 | |
18187 | 22 | W/C | 24 | rs2054184713 | 0.1179 | None | gnomAD-4.0.0 | 6.58042E-06 | |
18187 | 22 | W/G | 24 | rs796392077 | 0.1179 | None | gnomAD-2.1.1 | 3.19E-05 | |
18187 | 22 | W/G | 24 | rs796392077 | 0.1179 | None | gnomAD-3.1.2 | 1.32E-05 | |
18187 | 22 | W/G | 24 | rs796392077 | 0.1179 | None | gnomAD-4.0.0 | 3.04529E-06 | |
18188 | 23 | T/I | 25 | None | 0.5849 | None | gnomAD-4.0.0 | 1.59411E-06 | |
18188 | 23 | T/N | 25 | None | 0.5849 | None | gnomAD-4.0.0 | 1.59411E-06 | |
18188 | 23 | T/S | 25 | None | 0.5849 | None | gnomAD-4.0.0 | 1.59411E-06 | |
18189 | 24 | P/T | 26 | rs2054184050 | 0.4215 | None | gnomAD-3.1.2 | 6.58E-06 | |
18189 | 24 | P/T | 26 | rs2054184050 | 0.4215 | None | gnomAD-4.0.0 | 2.03023E-06 | |
18193 | 28 | N/S | 30 | rs777505893 | 0.3615 | None | gnomAD-2.1.1 | 4.03E-05 | |
18193 | 28 | N/S | 30 | rs777505893 | 0.3615 | None | gnomAD-3.1.2 | 1.97E-05 | |
18193 | 28 | N/S | 30 | rs777505893 | 0.3615 | None | gnomAD-4.0.0 | 4.89916E-05 | |
18194 | 29 | G/D | 31 | rs201802447 | 0.3808 | None | gnomAD-2.1.1 | 7.16E-05 | |
18194 | 29 | G/D | 31 | rs201802447 | 0.3808 | None | gnomAD-3.1.2 | 5.26E-05 | |
18194 | 29 | G/D | 31 | rs201802447 | 0.3808 | None | gnomAD-4.0.0 | 7.31786E-05 | |
18194 | 29 | G/S | 31 | None | 0.3808 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18195 | 30 | G/S | 32 | rs2054179912 | 0.5866 | None | gnomAD-4.0.0 | 3.18767E-06 | |
18196 | 31 | S/P | 33 | None | 0.2141 | None | gnomAD-4.0.0 | 1.59371E-06 | |
18197 | 32 | P/A | 34 | rs1475050139 | 0.7008 | None | gnomAD-3.1.2 | 6.58E-06 | |
18197 | 32 | P/A | 34 | rs1475050139 | 0.7008 | None | gnomAD-4.0.0 | 6.58189E-06 | |
18197 | 32 | P/S | 34 | rs1475050139 | 0.7008 | None | gnomAD-4.0.0 | 1.59361E-06 | |
18198 | 33 | I/T | 35 | rs745885044 | 0.1990 | None | gnomAD-2.1.1 | 4.03E-06 | |
18198 | 33 | I/T | 35 | rs745885044 | 0.1990 | None | gnomAD-4.0.0 | 1.59357E-06 | |
18198 | 33 | I/V | 35 | None | 0.1990 | None | gnomAD-4.0.0 | 2.73854E-06 | |
18200 | 35 | G/D | 37 | None | 0.1013 | None | gnomAD-4.0.0 | 1.59345E-06 | |
18201 | 36 | Y/H | 38 | rs779191742 | 0.1212 | None | gnomAD-2.1.1 | 8.06E-06 | |
18201 | 36 | Y/H | 38 | rs779191742 | 0.1212 | None | gnomAD-4.0.0 | 4.77992E-06 | |
18202 | 37 | W/C | 39 | rs1476258275 | 0.2029 | None | gnomAD-2.1.1 | 4.03E-06 | |
18202 | 37 | W/C | 39 | rs1476258275 | 0.2029 | None | gnomAD-4.0.0 | 1.59335E-06 | |
18202 | 37 | W/R | 39 | None | 0.2029 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18203 | 38 | L/P | 40 | rs771560830 | 0.0942 | None | gnomAD-2.1.1 | 4.03E-06 | |
18203 | 38 | L/P | 40 | rs771560830 | 0.0942 | None | gnomAD-4.0.0 | 4.78005E-06 | |
18203 | 38 | L/V | 40 | None | 0.0942 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18204 | 39 | E/G | 41 | rs778173480 | 0.1456 | None | gnomAD-4.0.0 | 1.5949E-05 | |
18204 | 39 | E/Q | 41 | rs749849370 | 0.1456 | None | gnomAD-2.1.1 | 1.21E-05 | |
18204 | 39 | E/Q | 41 | rs749849370 | 0.1456 | None | gnomAD-3.1.2 | 6.58E-06 | |
18204 | 39 | E/Q | 41 | rs749849370 | 0.1456 | None | gnomAD-4.0.0 | 6.82064E-06 | |
18204 | 39 | E/V | 41 | rs778173480 | 0.1456 | None | gnomAD-2.1.1 | 4.04E-06 | |
18204 | 39 | E/V | 41 | rs778173480 | 0.1456 | None | gnomAD-4.0.0 | 1.59476E-06 | |
18206 | 41 | R/T | 43 | None | 0.2062 | None | gnomAD-4.0.0 | 1.59315E-06 | |
18207 | 42 | E/K | 44 | None | 0.4537 | None | gnomAD-4.0.0 | 1.59316E-06 | |
18208 | 43 | E/K | 50 | rs575533984 | 0.4124 | None | gnomAD-2.1.1 | 1.61E-05 | |
18208 | 43 | E/K | 50 | rs575533984 | 0.4124 | None | gnomAD-3.1.2 | 6.58E-06 | |
18208 | 43 | E/K | 50 | rs575533984 | 0.4124 | None | 1000 genomes | 1.99681E-04 | |
18208 | 43 | E/K | 50 | rs575533984 | 0.4124 | None | gnomAD-4.0.0 | 6.20001E-06 | |
18210 | 45 | S/I | 60 | None | 0.2339 | None | gnomAD-4.0.0 | 6.84561E-07 | |
18210 | 45 | S/T | 60 | None | 0.2339 | None | gnomAD-4.0.0 | 6.84561E-07 | |
18211 | 46 | P/L | 63 | rs764772164 | 0.5191 | None | gnomAD-3.1.2 | 6.58E-06 | |
18211 | 46 | P/L | 63 | rs764772164 | 0.5191 | None | gnomAD-4.0.0 | 1.86004E-06 | |
18211 | 46 | P/R | 63 | rs764772164 | 0.5191 | None | gnomAD-3.1.2 | 1.32E-05 | |
18211 | 46 | P/R | 63 | rs764772164 | 0.5191 | None | gnomAD-4.0.0 | 1.67415E-05 | |
18211 | 46 | P/S | 63 | rs727504192 | 0.5191 | None | gnomAD-3.1.2 | 6.58E-06 | |
18211 | 46 | P/S | 63 | rs727504192 | 0.5191 | None | gnomAD-4.0.0 | 6.58085E-06 | |
18211 | 46 | P/T | 63 | rs727504192 | 0.5191 | None | gnomAD-2.1.1 | 7.86E-05 | |
18211 | 46 | P/T | 63 | rs727504192 | 0.5191 | None | gnomAD-3.1.2 | 8.56E-05 | |
18211 | 46 | P/T | 63 | rs727504192 | 0.5191 | None | gnomAD-4.0.0 | 2.03997E-04 | |
18212 | 47 | Y/F | 64 | rs772610346 | 0.8586 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18213 | 48 | W/S | 65 | None | 0.2620 | None | gnomAD-4.0.0 | 1.59315E-06 | |
18215 | 50 | R/C | 67 | rs187167219 | 0.3382 | None | gnomAD-2.1.1 | 6.44E-05 | |
18215 | 50 | R/C | 67 | rs187167219 | 0.3382 | None | gnomAD-3.1.2 | 1.32E-05 | |
18215 | 50 | R/C | 67 | rs187167219 | 0.3382 | None | 1000 genomes | 1.99681E-04 | |
18215 | 50 | R/C | 67 | rs187167219 | 0.3382 | None | gnomAD-4.0.0 | 2.04608E-05 | |
18215 | 50 | R/H | 67 | rs183010574 | 0.3382 | None | gnomAD-2.1.1 | 1.21E-05 | |
18215 | 50 | R/H | 67 | rs183010574 | 0.3382 | None | gnomAD-3.1.2 | 6.58E-06 | |
18215 | 50 | R/H | 67 | rs183010574 | 0.3382 | None | gnomAD-4.0.0 | 1.24007E-05 | |
18215 | 50 | R/P | 67 | rs183010574 | 0.3382 | None | gnomAD-2.1.1 | 2.86E-05 | |
18215 | 50 | R/P | 67 | rs183010574 | 0.3382 | None | gnomAD-3.1.2 | 1.32E-05 | |
18215 | 50 | R/P | 67 | rs183010574 | 0.3382 | None | 1000 genomes | 1.99681E-04 | |
18215 | 50 | R/P | 67 | rs183010574 | 0.3382 | None | gnomAD-4.0.0 | 8.67985E-06 | |
18216 | 51 | V/I | 68 | rs2054164910 | 0.2151 | None | gnomAD-3.1.2 | 1.32E-05 | |
18216 | 51 | V/I | 68 | rs2054164910 | 0.2151 | None | gnomAD-4.0.0 | 5.13006E-06 | |
18217 | 52 | S/G | 69 | rs201001270 | 0.2159 | None | gnomAD-2.1.1 | 2.86E-05 | |
18217 | 52 | S/G | 69 | rs201001270 | 0.2159 | None | gnomAD-3.1.2 | 3.95E-05 | |
18217 | 52 | S/G | 69 | rs201001270 | 0.2159 | None | gnomAD-4.0.0 | 6.51028E-05 | |
18218 | 53 | R/Q | 70 | rs143643360 | 1.0424 | None | gnomAD-2.1.1 | 1.79E-05 | |
18218 | 53 | R/Q | 70 | rs143643360 | 1.0424 | None | gnomAD-3.1.2 | 1.32E-05 | |
18218 | 53 | R/Q | 70 | rs143643360 | 1.0424 | None | 1000 genomes | 1.99681E-04 | |
18218 | 53 | R/Q | 70 | rs143643360 | 1.0424 | None | gnomAD-4.0.0 | 2.728E-05 | |
18219 | 54 | A/V | 72 | rs546735795 | 0.4022 | None | gnomAD-2.1.1 | 4.02E-06 | |
18219 | 54 | A/V | 72 | rs546735795 | 0.4022 | None | gnomAD-3.1.2 | 6.58E-06 | |
18219 | 54 | A/V | 72 | rs546735795 | 0.4022 | None | 1000 genomes | 1.99681E-04 | |
18219 | 54 | A/V | 72 | rs546735795 | 0.4022 | None | gnomAD-4.0.0 | 6.57825E-06 | |
18221 | 56 | I/L | 77 | rs375091820 | 0.1212 | None | gnomAD-2.1.1 | 4.02E-06 | |
18221 | 56 | I/L | 77 | rs375091820 | 0.1212 | None | gnomAD-4.0.0 | 6.8451E-07 | |
18221 | 56 | I/T | 77 | rs1418665991 | 0.1212 | None | gnomAD-2.1.1 | 4.02E-06 | |
18221 | 56 | I/T | 77 | rs1418665991 | 0.1212 | None | gnomAD-4.0.0 | 1.59294E-06 | |
18221 | 56 | I/V | 77 | rs375091820 | 0.1212 | None | gnomAD-2.1.1 | 2.14E-05 | |
18221 | 56 | I/V | 77 | rs375091820 | 0.1212 | None | gnomAD-4.0.0 | 1.57437E-05 | |
18223 | 58 | K/T | 79 | rs771180692 | 0.9855 | None | gnomAD-2.1.1 | 3.93E-05 | |
18223 | 58 | K/T | 79 | rs771180692 | 0.9855 | None | gnomAD-3.1.2 | 1.97E-05 | |
18223 | 58 | K/T | 79 | rs771180692 | 0.9855 | None | gnomAD-4.0.0 | 1.11609E-05 | |
18224 | 59 | V/A | 80 | rs749405835 | 0.5951 | None | gnomAD-2.1.1 | 4.02E-06 | |
18224 | 59 | V/A | 80 | rs749405835 | 0.5951 | None | gnomAD-4.0.0 | 9.55782E-06 | |
18225 | 60 | G/V | 81 | rs886038866 | 0.3386 | None | gnomAD-4.0.0 | 9.55773E-06 | |
18227 | 62 | K/N | 83 | rs371332455 | 1.0822 | None | gnomAD-2.1.1 | 8.04E-06 | |
18227 | 62 | K/N | 83 | rs371332455 | 1.0822 | None | gnomAD-4.0.0 | 1.59306E-06 | |
18228 | 63 | G/D | 88 | rs2154194670 | 0.2650 | None | gnomAD-3.1.2 | 6.58E-06 | |
18228 | 63 | G/D | 88 | rs2154194670 | 0.2650 | None | gnomAD-4.0.0 | 6.57592E-06 | |
18229 | 64 | V/L | 89 | rs116142642 | 0.0831 | None | gnomAD-2.1.1 | 2.01E-05 | |
18229 | 64 | V/L | 89 | rs116142642 | 0.0831 | None | gnomAD-4.0.0 | 3.4227E-06 | |
18229 | 64 | V/M | 89 | rs116142642 | 0.0831 | None | gnomAD-2.1.1 | 1.39335E-04 | |
18229 | 64 | V/M | 89 | rs116142642 | 0.0831 | None | gnomAD-3.1.2 | 1.11891E-04 | |
18229 | 64 | V/M | 89 | rs116142642 | 0.0831 | None | 1000 genomes | 5.99042E-04 | |
18229 | 64 | V/M | 89 | rs116142642 | 0.0831 | None | gnomAD-4.0.0 | 6.94407E-05 | |
18230 | 65 | E/V | 90 | None | 0.5311 | None | gnomAD-4.0.0 | 3.60097E-06 | |
18231 | 66 | F/L | 91 | None | 0.2340 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18233 | 68 | V/A | 93 | None | 0.1076 | None | gnomAD-4.0.0 | 1.5933E-06 | |
18233 | 68 | V/D | 93 | rs1060500469 | 0.1076 | None | gnomAD-3.1.2 | 6.58E-06 | |
18233 | 68 | V/D | 93 | rs1060500469 | 0.1076 | None | gnomAD-4.0.0 | 6.5825E-06 | |
18233 | 68 | V/I | 93 | rs374996996 | 0.1076 | None | gnomAD-2.1.1 | 8.05E-06 | |
18234 | 69 | P/T | 94 | rs1060500416 | 0.4080 | None | gnomAD-3.1.2 | 6.58E-06 | |
18234 | 69 | P/T | 94 | rs1060500416 | 0.4080 | None | gnomAD-4.0.0 | 6.58371E-06 | |
18235 | 70 | R/C | 96 | rs758019427 | 0.7988 | None | gnomAD-2.1.1 | 1.21E-05 | |
18235 | 70 | R/C | 96 | rs758019427 | 0.7988 | None | gnomAD-4.0.0 | 2.73845E-06 | |
18235 | 70 | R/G | 96 | rs758019427 | 0.7988 | None | gnomAD-2.1.1 | 8.05E-06 | |
18235 | 70 | R/G | 96 | rs758019427 | 0.7988 | None | gnomAD-3.1.2 | 6.59E-06 | |
18235 | 70 | R/G | 96 | rs758019427 | 0.7988 | None | gnomAD-4.0.0 | 3.10069E-06 | |
18235 | 70 | R/H | 96 | rs750125113 | 0.7988 | None | gnomAD-2.1.1 | 8.05E-06 | |
18235 | 70 | R/H | 96 | rs750125113 | 0.7988 | None | gnomAD-4.0.0 | 8.89995E-06 | |
18236 | 71 | L/F | 97 | rs1273412223 | 0.1347 | None | gnomAD-2.1.1 | 4.02E-06 | |
18236 | 71 | L/F | 97 | rs1273412223 | 0.1347 | None | gnomAD-4.0.0 | 1.59341E-06 | |
18236 | 71 | L/S | 97 | None | 0.1347 | None | gnomAD-4.0.0 | 2.05377E-06 | |
18236 | 71 | L/W | 97 | None | 0.1347 | None | gnomAD-4.0.0 | 6.84589E-07 | |
18237 | 72 | L/P | 98 | rs201412693 | 0.7161 | None | gnomAD-2.1.1 | 6.42972E-04 | |
18237 | 72 | L/P | 98 | rs201412693 | 0.7161 | None | gnomAD-3.1.2 | 6.12076E-04 | |
18237 | 72 | L/P | 98 | rs201412693 | 0.7161 | None | 1000 genomes | 7.98722E-04 | |
18237 | 72 | L/P | 98 | rs201412693 | 0.7161 |
CNM |
Literature | None | |
18237 | 72 | L/P | 98 | rs201412693 | 0.7161 | None | gnomAD-4.0.0 | 9.12083E-04 | |
18237 | 72 | L/R | 98 | rs201412693 | 0.7161 | None | gnomAD-2.1.1 | 4.02E-06 | |
18237 | 72 | L/R | 98 | rs201412693 | 0.7161 | None | gnomAD-4.0.0 | 1.1638E-05 | |
18238 | 73 | E/Q | 99 | None | 0.5447 | None | gnomAD-4.0.0 | 1.59345E-06 | |
18240 | 75 | V/I | 102 | rs375141729 | 0.2101 | None | gnomAD-2.1.1 | 4.64E-05 | |
18240 | 75 | V/I | 102 | rs375141729 | 0.2101 | None | gnomAD-3.1.2 | 1.84327E-04 | |
18240 | 75 | V/I | 102 | rs375141729 | 0.2101 | None | gnomAD-4.0.0 | 5.20872E-05 | |
18243 | 78 | Q/E | 105 | rs372447571 | 0.1481 | None | gnomAD-2.1.1 | 4.02E-06 | |
18243 | 78 | Q/E | 105 | rs372447571 | 0.1481 | None | gnomAD-4.0.0 | 2.05395E-06 | |
18243 | 78 | Q/H | 105 | rs548723690 | 0.1481 | None | gnomAD-2.1.1 | 8.05E-06 | |
18243 | 78 | Q/H | 105 | rs548723690 | 0.1481 | None | gnomAD-3.1.2 | 1.32E-05 | |
18243 | 78 | Q/H | 105 | rs548723690 | 0.1481 | None | 1000 genomes | 1.99681E-04 | |
18243 | 78 | Q/H | 105 | rs548723690 | 0.1481 | None | gnomAD-4.0.0 | 2.4804E-06 | |
18244 | 79 | F/L | 106 | rs1301615048 | 0.1200 | None | gnomAD-2.1.1 | 1.07E-05 | |
18244 | 79 | F/L | 106 | rs1301615048 | 0.1200 | None | gnomAD-3.1.2 | 1.97E-05 | |
18244 | 79 | F/L | 106 | rs1301615048 | 0.1200 | None | gnomAD-4.0.0 | 6.41513E-06 | |
18245 | 80 | R/G | 107 | rs2054149835 | 0.1836 | None | gnomAD-3.1.2 | 6.58E-06 | |
18245 | 80 | R/G | 107 | rs2054149835 | 0.1836 | None | gnomAD-4.0.0 | 6.58085E-06 | |
18245 | 80 | R/K | 107 | None | 0.1836 | None | gnomAD-4.0.0 | 2.05397E-06 | |
18245 | 80 | R/T | 107 | None | 0.1836 | None | gnomAD-4.0.0 | 1.36931E-06 | |
18247 | 82 | M/I | 109 | rs368858337 | 0.1502 | None | gnomAD-2.1.1 | 1.21E-05 | |
18247 | 82 | M/I | 109 | rs368858337 | 0.1502 | None | gnomAD-3.1.2 | 6.58E-06 | |
18247 | 82 | M/I | 109 | rs368858337 | 0.1502 | None | gnomAD-4.0.0 | 1.61261E-05 | |
18247 | 82 | M/T | 109 | rs200585270 | 0.1502 | None | gnomAD-2.1.1 | 2.93098E-04 | |
18247 | 82 | M/T | 109 | rs200585270 | 0.1502 | None | gnomAD-3.1.2 | 1.51348E-04 | |
18247 | 82 | M/T | 109 | rs200585270 | 0.1502 | None | gnomAD-4.0.0 | 1.27761E-04 | |
18251 | 86 | A/T | 113 | None | 0.6348 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18252 | 87 | A/V | 114 | rs551602191 | 0.4812 | None | gnomAD-2.1.1 | 4.03E-06 | |
18252 | 87 | A/V | 114 | rs551602191 | 0.4812 | None | gnomAD-3.1.2 | 6.58E-06 | |
18252 | 87 | A/V | 114 | rs551602191 | 0.4812 | None | gnomAD-4.0.0 | 1.2837E-05 | |
18253 | 88 | G/A | 115 | None | 0.2081 | None | gnomAD-4.0.0 | 1.59524E-06 | |
18253 | 88 | G/R | 115 | None | 0.2081 | None | gnomAD-4.0.0 | 1.5949E-06 | |
18254 | 89 | I/F | 117 | rs766737617 | 0.4156 | None | gnomAD-2.1.1 | 1.21E-05 | |
18254 | 89 | I/F | 117 | rs766737617 | 0.4156 | None | gnomAD-3.1.2 | 6.58E-06 | |
18254 | 89 | I/F | 117 | rs766737617 | 0.4156 | None | gnomAD-4.0.0 | 1.36479E-05 | |
18254 | 89 | I/T | 117 | rs1356331923 | 0.4156 | None | gnomAD-2.1.1 | 4.03E-06 | |
18254 | 89 | I/T | 117 | rs1356331923 | 0.4156 | None | gnomAD-4.0.0 | 3.42479E-06 | |
18255 | 90 | G/A | 118 | None | 0.1773 | None | gnomAD-4.0.0 | 6.85044E-07 | |
18255 | 90 | G/S | 118 | rs762872466 | 0.1773 | None | gnomAD-2.1.1 | 4.03E-06 | |
18255 | 90 | G/S | 118 | rs762872466 | 0.1773 | None | gnomAD-4.0.0 | 1.59559E-06 | |
18257 | 92 | P/L | 120 | rs1429008245 | 0.4042 | None | gnomAD-4.0.0 | 1.59652E-06 | |
18258 | 93 | S/N | 121 | None | 0.1110 | None | gnomAD-4.0.0 | 6.85289E-07 | |
18258 | 93 | S/T | 121 | rs770198717 | 0.1110 | None | gnomAD-2.1.1 | 4.03E-06 | |
18259 | 94 | E/K | 122 | None | 0.6126 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18260 | 95 | P/T | 123 | None | 0.3228 | None | gnomAD-4.0.0 | 1.59858E-06 | |
18261 | 96 | S/P | 124 | None | 0.1098 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18262 | 97 | D/G | 125 | None | 0.6614 | None | gnomAD-4.0.0 | 1.6019E-06 | |
18263 | 98 | P/A | 126 | None | 0.2863 | None | gnomAD-4.0.0 | 1.60278E-06 | |
18263 | 98 | P/L | 126 | None | 0.2863 | None | gnomAD-4.0.0 | 6.86437E-07 | |
18264 | 99 | E/A | 127 | None | 0.3248 | None | gnomAD-4.0.0 | 1.60669E-06 | |
18264 | 99 | E/K | 127 | rs1253287416 | 0.3248 | None | gnomAD-2.1.1 | 4.04E-06 | |
18264 | 99 | E/K | 127 | rs1253287416 | 0.3248 | None | gnomAD-4.0.0 | 4.12128E-06 | |
18264 | 99 | E/Q | 127 | rs1253287416 | 0.3248 | None | gnomAD-4.0.0 | 2.74752E-06 | |
18265 | 100 | V/A | 129 | rs2054138018 | 0.3493 | None | gnomAD-3.1.2 | 6.58E-06 | |
18265 | 100 | V/A | 129 | rs2054138018 | 0.3493 | None | gnomAD-4.0.0 | 3.91767E-06 | |
18265 | 100 | V/I | 129 | rs397517621 | 0.3493 | None | gnomAD-4.0.0 | 1.61921E-06 | |
18266 | 101 | A/S | 130 | rs199837769 | 0.1009 | None | gnomAD-2.1.1 | 1.15539E-04 | |
18266 | 101 | A/S | 130 | rs199837769 | 0.1009 | None | gnomAD-3.1.2 | 1.1844E-04 | |
18266 | 101 | A/S | 130 | rs199837769 | 0.1009 | None | gnomAD-4.0.0 | 1.40839E-04 | |
18266 | 101 | A/T | 130 | None | 0.1009 | None | gnomAD-4.0.0 | 1.38351E-06 | |
18267 | 102 | G/E | 131 | rs878876923 | 0.1798 | None | gnomAD-3.1.2 | 6.58E-06 | |
18267 | 102 | G/E | 131 | rs878876923 | 0.1798 | None | gnomAD-4.0.0 | 2.61866E-06 | |
18268 | 103 | D/H | 132 | rs776957882 | 0.6925 | None | gnomAD-2.1.1 | 4.11E-06 | |
18268 | 103 | D/H | 132 | rs776957882 | 0.6925 | None | gnomAD-4.0.0 | 1.67442E-06 | |
18268 | 103 | D/N | 132 | None | 0.6925 | None | gnomAD-3.1.2 | 6.58E-06 | |
18268 | 103 | D/N | 132 | None | 0.6925 | None | gnomAD-4.0.0 | 2.66966E-06 | |
18268 | 103 | D/Y | 132 | rs776957882 | 0.6925 | None | gnomAD-4.0.0 | 1.67442E-06 |