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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
8264 | 1 | P/A | 1 | None | 0.1615 | None | gnomAD-4.0.0 | 1.63066E-06 | |
8264 | 1 | P/L | 1 | rs1235369035 | 0.1615 | None | gnomAD-2.1.1 | 8.38E-06 | |
8264 | 1 | P/L | 1 | rs1235369035 | 0.1615 | None | gnomAD-4.0.0 | 4.14748E-06 | |
8265 | 2 | Y/N | 2 | None | 0.4313 | None | gnomAD-4.0.0 | 1.6283E-06 | |
8266 | 3 | F/Y | 3 | rs768252647 | 0.2471 | None | gnomAD-2.1.1 | 8.33E-06 | |
8266 | 3 | F/Y | 3 | rs768252647 | 0.2471 | None | gnomAD-4.0.0 | 1.78772E-05 | |
8267 | 4 | I/F | 4 | rs534974639 | 0.3515 | None | gnomAD-2.1.1 | 8.33E-06 | |
8267 | 4 | I/F | 4 | rs534974639 | 0.3515 | None | gnomAD-3.1.2 | 1.97E-05 | |
8267 | 4 | I/F | 4 | rs534974639 | 0.3515 | None | 1000 genomes | 3.99361E-04 | |
8267 | 4 | I/F | 4 | rs534974639 | 0.3515 | None | gnomAD-4.0.0 | 6.87145E-06 | |
8267 | 4 | I/T | 4 | None | 0.3515 | None | gnomAD-4.0.0 | 1.62361E-06 | |
8269 | 6 | P/L | 7 | rs960099770 | 0.6471 | None | gnomAD-4.0.0 | 1.62141E-06 | |
8271 | 8 | E/K | 9 | None | 0.8988 | None | gnomAD-4.0.0 | 4.13603E-06 | |
8271 | 8 | E/Q | 9 | None | 0.8988 | None | gnomAD-4.0.0 | 6.89338E-07 | |
8272 | 9 | H/L | 11 | None | 0.6845 | None | gnomAD-4.0.0 | 6.88821E-07 | |
8272 | 9 | H/P | 11 | rs1299797032 | 0.6845 | None | gnomAD-2.1.1 | 4.13E-06 | |
8272 | 9 | H/P | 11 | rs1299797032 | 0.6845 | None | gnomAD-4.0.0 | 1.37764E-06 | |
8272 | 9 | H/Q | 11 | None | 0.6845 | None | gnomAD-4.0.0 | 1.61603E-06 | |
8272 | 9 | H/Y | 11 | None | 0.6845 | None | gnomAD-4.0.0 | 2.068E-06 | |
8273 | 10 | V/A | 13 | None | 0.3369 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8273 | 10 | V/M | 13 | None | 0.3369 | None | gnomAD-4.0.0 | 1.61611E-06 | |
8274 | 11 | E/K | 14 | rs72648981 | 0.8784 | None | gnomAD-2.1.1 | 2.30508E-03 | |
8274 | 11 | E/K | 14 | rs72648981 | 0.8784 | None | gnomAD-3.1.2 | 2.32668E-03 | |
8274 | 11 | E/K | 14 | rs72648981 | 0.8784 | None | 1000 genomes | 5.99042E-04 | |
8274 | 11 | E/K | 14 | rs72648981 | 0.8784 | None | gnomAD-4.0.0 | 2.97975E-03 | |
8275 | 12 | A/T | 16 | rs771947778 | 0.2951 | None | gnomAD-2.1.1 | 4.13E-06 | |
8275 | 12 | A/T | 16 | rs771947778 | 0.2951 | None | gnomAD-4.0.0 | 1.10167E-05 | |
8277 | 14 | I/T | 23 | rs745818162 | 0.5201 | None | gnomAD-2.1.1 | 1.1E-05 | |
8277 | 14 | I/T | 23 | rs745818162 | 0.5201 | None | gnomAD-3.1.2 | 6.57E-06 | |
8277 | 14 | I/T | 23 | rs745818162 | 0.5201 | None | gnomAD-4.0.0 | 7.7693E-06 | |
8278 | 15 | G/A | 24 | rs778611558 | 0.2866 | None | gnomAD-2.1.1 | 4.75E-05 | |
8278 | 15 | G/A | 24 | rs778611558 | 0.2866 | None | gnomAD-3.1.2 | 3.29E-05 | |
8278 | 15 | G/A | 24 | rs778611558 | 0.2866 | None | gnomAD-4.0.0 | 3.36686E-05 | |
8278 | 15 | G/R | 24 | rs1406754899 | 0.2866 | None | gnomAD-2.1.1 | 4.12E-06 | |
8278 | 15 | G/R | 24 | rs1406754899 | 0.2866 | None | gnomAD-4.0.0 | 1.6128E-06 | |
8280 | 17 | P/L | 26 | rs375219172 | 0.5669 | None | gnomAD-2.1.1 | 8.23E-06 | |
8280 | 17 | P/L | 26 | rs375219172 | 0.5669 | None | gnomAD-3.1.2 | 6.57E-06 | |
8280 | 17 | P/L | 26 | rs375219172 | 0.5669 | None | gnomAD-4.0.0 | 8.09428E-06 | |
8280 | 17 | P/R | 26 | rs375219172 | 0.5669 | None | gnomAD-3.1.2 | 1.31E-05 | |
8280 | 17 | P/R | 26 | rs375219172 | 0.5669 | None | gnomAD-4.0.0 | 1.86791E-06 | |
8281 | 18 | A/E | 28 | rs1474165122 | 0.1999 | None | gnomAD-2.1.1 | 8.22E-06 | |
8281 | 18 | A/E | 28 | rs1474165122 | 0.1999 | None | gnomAD-4.0.0 | 4.83065E-06 | |
8281 | 18 | A/T | 28 | rs2077783832 | 0.1999 | None | gnomAD-4.0.0 | 1.61075E-06 | |
8282 | 19 | T/A | 29 | rs2077783131 | 0.4319 | None | gnomAD-4.0.0 | 4.80129E-06 | |
8282 | 19 | T/I | 29 | None | 0.4319 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8283 | 20 | L/F | 30 | rs1454021604 | 0.1583 | None | gnomAD-3.1.2 | 6.57E-06 | |
8283 | 20 | L/F | 30 | rs1454021604 | 0.1583 | None | gnomAD-4.0.0 | 3.73346E-06 | |
8283 | 20 | L/V | 30 | rs1408912599 | 0.1583 | None | gnomAD-3.1.2 | 6.57E-06 | |
8283 | 20 | L/V | 30 | rs1408912599 | 0.1583 | None | gnomAD-4.0.0 | 6.57151E-06 | |
8284 | 21 | Q/E | 31 | None | 0.6450 | None | gnomAD-4.0.0 | 2.40066E-06 | |
8284 | 21 | Q/L | 31 | None | 0.6450 | None | gnomAD-4.0.0 | 3.21576E-06 | |
8285 | 22 | C/G | 33 | rs757040162 | 0.1117 | None | gnomAD-2.1.1 | 4.1E-06 | |
8285 | 22 | C/R | 33 | None | 0.1117 | None | gnomAD-4.0.0 | 6.87163E-07 | |
8285 | 22 | C/S | 33 | rs757040162 | 0.1117 | None | gnomAD-2.1.1 | 4.1E-06 | |
8285 | 22 | C/S | 33 | rs757040162 | 0.1117 | None | gnomAD-4.0.0 | 1.37433E-06 | |
8286 | 23 | K/E | 34 | rs1454054276 | 0.2550 | None | gnomAD-2.1.1 | 4.1E-06 | |
8286 | 23 | K/E | 34 | rs1454054276 | 0.2550 | None | gnomAD-4.0.0 | 3.50342E-05 | |
8286 | 23 | K/Q | 34 | rs1454054276 | 0.2550 | None | gnomAD-4.0.0 | 1.37389E-06 | |
8286 | 23 | K/R | 34 | None | 0.2550 | None | gnomAD-4.0.0 | 6.86896E-07 | |
8287 | 24 | V/A | 35 | rs2077779717 | 0.1086 | None | gnomAD-4.0.0 | 1.60527E-06 | |
8288 | 25 | D/G | 38 | None | 0.3665 | None | gnomAD-4.0.0 | 1.20033E-06 | |
8288 | 25 | D/N | 38 | rs372538009 | 0.3665 | None | gnomAD-3.1.2 | 6.57E-06 | |
8288 | 25 | D/N | 38 | rs372538009 | 0.3665 | None | gnomAD-4.0.0 | 2.57995E-06 | |
8290 | 27 | T/N | 41 | None | 0.4903 | None | gnomAD-4.0.0 | 1.6026E-06 | |
8291 | 28 | P/T | 42 | None | 0.3990 | None | gnomAD-4.0.0 | 1.60168E-06 | |
8292 | 29 | E/Q | 43 | rs778030351 | 0.9755 | None | gnomAD-2.1.1 | 8.13E-06 | |
8292 | 29 | E/Q | 43 | rs778030351 | 0.9755 | None | gnomAD-4.0.0 | 4.80143E-06 | |
8294 | 31 | R/G | 45 | rs72648982 | 0.3805 | None | gnomAD-2.1.1 | 2.17258E-02 | |
8294 | 31 | R/G | 45 | rs72648982 | 0.3805 | None | gnomAD-3.1.2 | 2.06025E-02 | |
8294 | 31 | R/G | 45 | rs72648982 | 0.3805 | None | 1000 genomes | 1.21805E-02 | |
8294 | 31 | R/G | 45 | rs72648982 | 0.3805 | None | gnomAD-4.0.0 | 2.73513E-02 | |
8295 | 32 | I/N | 46 | rs752786293 | 0.2340 | None | gnomAD-2.1.1 | 8.09E-06 | |
8295 | 32 | I/N | 46 | rs752786293 | 0.2340 | None | gnomAD-4.0.0 | 6.38857E-06 | |
8296 | 33 | S/P | 47 | None | 0.2072 | None | gnomAD-4.0.0 | 6.85202E-07 | |
8296 | 33 | S/T | 47 | rs767731986 | 0.2072 | None | gnomAD-2.1.1 | 1.21E-05 | |
8296 | 33 | S/T | 47 | rs767731986 | 0.2072 | None | gnomAD-3.1.2 | 6.57E-06 | |
8296 | 33 | S/T | 47 | rs767731986 | 0.2072 | None | gnomAD-4.0.0 | 2.48203E-06 | |
8297 | 34 | W/C | 48 | rs727504205 | 0.1277 | None | gnomAD-4.0.0 | 2.05508E-06 | |
8299 | 36 | K/E | 50 | rs2077774413 | 0.1223 | None | gnomAD-3.1.2 | 6.57E-06 | |
8299 | 36 | K/E | 50 | rs2077774413 | 0.1223 | None | gnomAD-4.0.0 | 6.57255E-06 | |
8299 | 36 | K/R | 50 | None | 0.1223 | None | gnomAD-4.0.0 | 1.36967E-06 | |
8300 | 37 | E/D | 51 | rs1438429191 | 0.4828 | None | gnomAD-2.1.1 | 4.03E-06 | |
8300 | 37 | E/D | 51 | rs1438429191 | 0.4828 | None | gnomAD-4.0.0 | 6.8472E-07 | |
8300 | 37 | E/K | 51 | rs1300968279 | 0.4828 | None | gnomAD-3.1.2 | 6.58E-06 | |
8300 | 37 | E/K | 51 | rs1300968279 | 0.4828 | None | gnomAD-4.0.0 | 6.57583E-06 | |
8300 | 37 | E/Q | 51 | rs1300968279 | 0.4828 | None | gnomAD-2.1.1 | 4.03E-06 | |
8300 | 37 | E/Q | 51 | rs1300968279 | 0.4828 | None | gnomAD-3.1.2 | 6.58E-06 | |
8300 | 37 | E/Q | 51 | rs1300968279 | 0.4828 | None | gnomAD-4.0.0 | 5.13343E-06 | |
8301 | 38 | H/L | 52 | rs763397399 | 0.9696 | None | gnomAD-2.1.1 | 4.03E-06 | |
8301 | 38 | H/L | 52 | rs763397399 | 0.9696 | None | gnomAD-4.0.0 | 1.59372E-06 | |
8301 | 38 | H/N | 52 | rs375389220 | 0.9696 | None | gnomAD-3.1.2 | 6.57E-06 | |
8301 | 38 | H/N | 52 | rs375389220 | 0.9696 | None | 1000 genomes | 1.99681E-04 | |
8301 | 38 | H/N | 52 | rs375389220 | 0.9696 | None | gnomAD-4.0.0 | 6.56901E-06 | |
8301 | 38 | H/Y | 52 | rs375389220 | 0.9696 | None | gnomAD-2.1.1 | 4.03E-06 | |
8301 | 38 | H/Y | 52 | rs375389220 | 0.9696 | None | gnomAD-4.0.0 | 2.05425E-06 | |
8302 | 39 | T/A | 55 | None | 0.5550 | None | gnomAD-4.0.0 | 6.84604E-07 | |
8302 | 39 | T/K | 55 | rs549604128 | 0.5550 | None | gnomAD-2.1.1 | 8.94E-05 | |
8302 | 39 | T/K | 55 | rs549604128 | 0.5550 | None | gnomAD-3.1.2 | 5.26E-05 | |
8302 | 39 | T/K | 55 | rs549604128 | 0.5550 | None | 1000 genomes | 3.99361E-04 | |
8302 | 39 | T/K | 55 | rs549604128 | 0.5550 | None | gnomAD-4.0.0 | 2.23197E-05 | |
8302 | 39 | T/S | 55 | None | 0.5550 | None | gnomAD-4.0.0 | 6.84604E-07 | |
8305 | 42 | R/Q | 59 | rs759985618 | 0.9014 | None | gnomAD-2.1.1 | 5.23E-05 | |
8305 | 42 | R/Q | 59 | rs759985618 | 0.9014 | None | gnomAD-3.1.2 | 6.58E-06 | |
8305 | 42 | R/Q | 59 | rs759985618 | 0.9014 | None | gnomAD-4.0.0 | 3.34745E-05 | |
8306 | 43 | S/L | 70 | rs776712129 | 0.8530 | None | gnomAD-2.1.1 | 4.02E-06 | |
8306 | 43 | S/L | 70 | rs776712129 | 0.8530 | None | gnomAD-3.1.2 | 6.57E-06 | |
8306 | 43 | S/L | 70 | rs776712129 | 0.8530 | None | gnomAD-4.0.0 | 1.36365E-05 | |
8307 | 44 | A/G | 73 | rs2077769834 | 0.3041 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8308 | 45 | P/S | 102 | rs373770383 | 0.9168 | None | gnomAD-2.1.1 | 4.64E-05 | |
8308 | 45 | P/S | 102 | rs373770383 | 0.9168 | None | gnomAD-3.1.2 | 1.38053E-04 | |
8308 | 45 | P/S | 102 | rs373770383 | 0.9168 | None | gnomAD-4.0.0 | 2.23131E-05 | |
8309 | 46 | A/E | 115 | rs186598275 | 0.2554 | None | gnomAD-2.1.1 | 4.02E-06 | |
8309 | 46 | A/E | 115 | rs186598275 | 0.2554 | None | gnomAD-3.1.2 | 6.57E-06 | |
8309 | 46 | A/E | 115 | rs186598275 | 0.2554 | None | gnomAD-4.0.0 | 6.5678E-06 | |
8309 | 46 | A/V | 115 | rs186598275 | 0.2554 | None | gnomAD-2.1.1 | 4.02E-06 | |
8309 | 46 | A/V | 115 | rs186598275 | 0.2554 | None | gnomAD-3.1.2 | 6.57E-06 | |
8309 | 46 | A/V | 115 | rs186598275 | 0.2554 | None | gnomAD-4.0.0 | 6.5678E-06 | |
8310 | 47 | Y/C | 121 | rs879064808 | 0.3000 | None | gnomAD-2.1.1 | 4.02E-06 | |
8310 | 47 | Y/C | 121 | rs879064808 | 0.3000 | None | gnomAD-4.0.0 | 3.42137E-06 | |
8310 | 47 | Y/H | 121 | None | 0.3000 | None | gnomAD-4.0.0 | 6.84287E-07 | |
8310 | 47 | Y/N | 121 | rs397517511 | 0.3000 | None | gnomAD-2.1.1 | 1.21E-05 | |
8310 | 47 | Y/N | 121 | rs397517511 | 0.3000 | None | gnomAD-3.1.2 | 1.31E-05 | |
8310 | 47 | Y/N | 121 | rs397517511 | 0.3000 | None | gnomAD-4.0.0 | 4.33831E-06 | |
8311 | 48 | K/N | 122 | rs749075617 | 0.5573 | None | gnomAD-2.1.1 | 4.02E-06 | |
8311 | 48 | K/N | 122 | rs749075617 | 0.5573 | None | gnomAD-4.0.0 | 1.59155E-06 | |
8312 | 49 | M/I | 123 | None | 0.2475 | None | gnomAD-4.0.0 | 1.59157E-06 | |
8312 | 49 | M/T | 123 | rs756314449 | 0.2475 | None | gnomAD-2.1.1 | 4.02E-06 | |
8312 | 49 | M/T | 123 | rs756314449 | 0.2475 | None | gnomAD-3.1.2 | 6.57E-06 | |
8312 | 49 | M/T | 123 | rs756314449 | 0.2475 | None | gnomAD-4.0.0 | 5.12522E-06 | |
8312 | 49 | M/V | 123 | rs777456359 | 0.2475 | None | gnomAD-2.1.1 | 4.02E-06 | |
8312 | 49 | M/V | 123 | rs777456359 | 0.2475 | None | gnomAD-4.0.0 | 1.59155E-06 | |
8314 | 51 | F/L | 127 | rs570367600 | 0.3424 | None | gnomAD-2.1.1 | 1.61E-05 | |
8314 | 51 | F/L | 127 | rs570367600 | 0.3424 | None | gnomAD-3.1.2 | 6.57E-06 | |
8314 | 51 | F/L | 127 | rs570367600 | 0.3424 | None | 1000 genomes | 1.99681E-04 | |
8314 | 51 | F/L | 127 | rs570367600 | 0.3424 | None | gnomAD-4.0.0 | 1.11405E-05 | |
8317 | 54 | N/I | 134 | rs1278554973 | 0.3471 | None | gnomAD-2.1.1 | 4.02E-06 | |
8317 | 54 | N/I | 134 | rs1278554973 | 0.3471 | None | gnomAD-4.0.0 | 4.10542E-06 | |
8317 | 54 | N/K | 134 | rs370154022 | 0.3471 | None | gnomAD-2.1.1 | 1.61E-05 | |
8317 | 54 | N/K | 134 | rs370154022 | 0.3471 | None | gnomAD-3.1.2 | 7.89E-05 | |
8317 | 54 | N/K | 134 | rs370154022 | 0.3471 | None | gnomAD-4.0.0 | 1.11553E-05 | |
8318 | 55 | V/I | 135 | rs200103997 | 0.2863 | None | gnomAD-2.1.1 | 5.74659E-04 | |
8318 | 55 | V/I | 135 | rs200103997 | 0.2863 | None | gnomAD-3.1.2 | 5.45572E-04 | |
8318 | 55 | V/I | 135 | rs200103997 | 0.2863 | None | 1000 genomes | 1.99681E-04 | |
8318 | 55 | V/I | 135 | rs200103997 | 0.2863 | None | gnomAD-4.0.0 | 7.49198E-04 | |
8319 | 56 | A/P | 136 | None | 0.0945 | None | gnomAD-4.0.0 | 4.80129E-06 | |
8319 | 56 | A/T | 136 | rs2077763797 | 0.0945 | None | gnomAD-3.1.2 | 6.57E-06 | |
8319 | 56 | A/T | 136 | rs2077763797 | 0.0945 | None | gnomAD-4.0.0 | 6.57263E-06 | |
8319 | 56 | A/V | 136 | None | 0.0945 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8320 | 57 | S/C | 137 | rs1374151646 | 0.2293 | None | gnomAD-3.1.2 | 1.31E-05 | |
8320 | 57 | S/C | 137 | rs1374151646 | 0.2293 | None | gnomAD-4.0.0 | 1.31377E-05 | |
8320 | 57 | S/F | 137 | rs1374151646 | 0.2293 | None | gnomAD-2.1.1 | 4.02E-06 | |
8320 | 57 | S/F | 137 | rs1374151646 | 0.2293 | None | gnomAD-4.0.0 | 4.77415E-06 | |
8322 | 59 | V/A | 139 | None | 0.2489 | None | gnomAD-4.0.0 | 4.77412E-06 | |
8322 | 59 | V/I | 139 | rs201571580 | 0.2489 | None | gnomAD-2.1.1 | 4.02E-06 | |
8322 | 59 | V/I | 139 | rs201571580 | 0.2489 | None | gnomAD-4.0.0 | 6.84232E-07 | |
8322 | 59 | V/L | 139 | rs201571580 | 0.2489 | None | gnomAD-2.1.1 | 5.88962E-04 | |
8322 | 59 | V/L | 139 | rs201571580 | 0.2489 | None | gnomAD-3.1.2 | 4.86349E-04 | |
8322 | 59 | V/L | 139 | rs201571580 | 0.2489 | None | gnomAD-4.0.0 | 6.38259E-04 | |
8324 | 61 | N/K | 141 | rs879030954 | 0.4542 | None | gnomAD-4.0.0 | 4.10537E-06 | |
8325 | 62 | K/E | 143 | rs72648984 | 0.6059 | None | gnomAD-2.1.1 | 5.58292E-03 | |
8325 | 62 | K/E | 143 | rs72648984 | 0.6059 | None | gnomAD-3.1.2 | 4.66442E-03 | |
8325 | 62 | K/E | 143 | rs72648984 | 0.6059 | None | 1000 genomes | 1.59744E-03 | |
8325 | 62 | K/E | 143 | rs72648984 | 0.6059 | None | gnomAD-4.0.0 | 5.69265E-03 | |
8325 | 62 | K/N | 143 | rs373995644 | 0.6059 | None | gnomAD-2.1.1 | 4.02E-06 | |
8327 | 64 | D/V | 145 | None | 0.4082 | None | gnomAD-4.0.0 | 1.5914E-06 | |
8328 | 65 | H/N | 146 | rs767212475 | 0.4720 | None | gnomAD-2.1.1 | 4.02E-06 | |
8329 | 66 | S/G | 148 | None | 0.4583 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8329 | 66 | S/N | 148 | None | 0.4583 | None | gnomAD-4.0.0 | 4.78965E-06 | |
8330 | 67 | D/H | 149 | None | 0.1338 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8331 | 68 | V/E | 151 | rs773888026 | 0.2673 | None | gnomAD-2.1.1 | 4.02E-06 | |
8331 | 68 | V/E | 151 | rs773888026 | 0.2673 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8332 | 69 | G/E | 152 | rs2077756630 | 0.1506 | None | gnomAD-3.1.2 | 6.57E-06 | |
8332 | 69 | G/E | 152 | rs2077756630 | 0.1506 | None | gnomAD-4.0.0 | 6.57212E-06 | |
8333 | 70 | E/D | 153 | rs1438182051 | 0.3938 | None | gnomAD-2.1.1 | 3.18E-05 | |
8333 | 70 | E/D | 153 | rs1438182051 | 0.3938 | None | gnomAD-3.1.2 | 6.57E-06 | |
8333 | 70 | E/D | 153 | rs1438182051 | 0.3938 | None | gnomAD-4.0.0 | 2.56224E-06 | |
8333 | 70 | E/G | 153 | rs770811407 | 0.3938 | None | gnomAD-2.1.1 | 4.02E-06 | |
8333 | 70 | E/G | 153 | rs770811407 | 0.3938 | None | gnomAD-4.0.0 | 7.95689E-06 | |
8335 | 72 | S/A | 155 | rs773006091 | 0.1896 | None | gnomAD-2.1.1 | 4.02E-06 | |
8335 | 72 | S/A | 155 | rs773006091 | 0.1896 | None | gnomAD-4.0.0 | 6.84237E-07 | |
8335 | 72 | S/T | 155 | None | 0.1896 | None | gnomAD-4.0.0 | 6.84237E-07 | |
8336 | 73 | C/G | 156 | None | 0.0908 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8336 | 73 | C/S | 156 | None | 0.0908 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8339 | 76 | D/E | 159 | rs1283273345 | 0.2298 | None | gnomAD-2.1.1 | 4.02E-06 | |
8339 | 76 | D/E | 159 | rs1283273345 | 0.2298 | None | gnomAD-4.0.0 | 4.77458E-06 | |
8340 | 77 | N/S | 161 | None | 0.1205 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8341 | 78 | S/R | 162 | rs1221926854 | 0.5669 | None | gnomAD-2.1.1 | 4.02E-06 | |
8341 | 78 | S/R | 162 | rs1221926854 | 0.5669 | None | gnomAD-4.0.0 | 6.84318E-07 | |
8343 | 80 | G/A | 164 | rs1288642142 | 0.2411 | None | gnomAD-2.1.1 | 4.02E-06 | |
8343 | 80 | G/A | 164 | rs1288642142 | 0.2411 | None | gnomAD-4.0.0 | 1.59204E-06 | |
8344 | 81 | A/E | 165 | rs748045267 | 0.4350 | None | gnomAD-2.1.1 | 4.03E-06 | |
8344 | 81 | A/E | 165 | rs748045267 | 0.4350 | None | gnomAD-4.0.0 | 1.59253E-06 | |
8344 | 81 | A/T | 165 | rs2077751372 | 0.4350 | None | gnomAD-4.0.0 | 1.36876E-06 | |
8345 | 82 | V/A | 166 | None | 0.2824 | None | gnomAD-4.0.0 | 6.37397E-06 | |
8346 | 83 | A/T | 168 | rs755302381 | 0.3723 | None | gnomAD-2.1.1 | 2.01E-05 | |
8346 | 83 | A/T | 168 | rs755302381 | 0.3723 | None | gnomAD-3.1.2 | 1.31E-05 | |
8346 | 83 | A/T | 168 | rs755302381 | 0.3723 | None | gnomAD-4.0.0 | 8.06179E-06 | |
8346 | 83 | A/V | 168 | rs747055472 | 0.3723 | None | gnomAD-2.1.1 | 4.03E-06 | |
8346 | 83 | A/V | 168 | rs747055472 | 0.3723 | None | gnomAD-4.0.0 | 1.5941E-06 | |
8347 | 84 | S/P | 169 | rs1345180729 | 0.2094 | None | gnomAD-2.1.1 | 4.03E-06 | |
8347 | 84 | S/P | 169 | rs1345180729 | 0.2094 | None | gnomAD-4.0.0 | 1.59401E-06 | |
8349 | 86 | A/G | 172 | rs397517513 | 0.1021 | None | gnomAD-2.1.1 | 1.79E-05 | |
8349 | 86 | A/G | 172 | rs397517513 | 0.1021 | None | gnomAD-3.1.2 | 1.97E-05 | |
8349 | 86 | A/G | 172 | rs397517513 | 0.1021 | None | gnomAD-4.0.0 | 3.597E-05 | |
8349 | 86 | A/P | 172 | rs1459194268 | 0.1021 | None | gnomAD-2.1.1 | 4.03E-06 | |
8349 | 86 | A/P | 172 | rs1459194268 | 0.1021 | None | gnomAD-4.0.0 | 1.59459E-06 | |
8349 | 86 | A/V | 172 | rs397517513 | 0.1021 | None | gnomAD-3.1.2 | 1.97E-05 | |
8349 | 86 | A/V | 172 | rs397517513 | 0.1021 | None | gnomAD-4.0.0 | 1.9714E-05 | |
8350 | 87 | V/A | 173 | rs915984764 | 0.3124 | None | gnomAD-4.0.0 | 2.0553E-06 | |
8350 | 87 | V/M | 173 | None | 0.3124 | None | gnomAD-3.1.2 | 6.57E-06 | |
8350 | 87 | V/M | 173 | None | 0.3124 | None | gnomAD-4.0.0 | 6.5722E-06 | |
8352 | 89 | V/L | 175 | rs750897859 | 0.5516 | None | gnomAD-2.1.1 | 4.04E-06 | |
8352 | 89 | V/L | 175 | rs750897859 | 0.5516 | None | gnomAD-4.0.0 | 9.58653E-06 | |
8353 | 90 | I/N | 177 | None | 0.2489 | None | gnomAD-4.0.0 | 1.59872E-06 | |
8353 | 90 | I/V | 177 | None | 0.2489 | None | gnomAD-4.0.0 | 1.37112E-06 |