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I | A | I | L | Q | G | L | S | D | Q | K | V | C | E | G | D | I | V | Q | L | E | V | K | V | S | L | E | S | V | E | G | V | W | M | K | D | G | Q | E | V | Q | P | S | D | R | V | H | I | V | I | D | K | Q | S | H | M | L | L | I | E | D | M | T | K | E | D | A | G | N | Y | S | F | T | I | P | A | L | G | L | S | T | S | G | R | V | S | V | Y | S | V | D | V | I | T | P | L | K | D | V | N | V | I | E | G | T | K | A | V | L | E | C | K | V | S | V | P | D | V | T | S | V | K | W | Y | L | N | D | E | Q | I | K | P | D | D | R | V | Q | A | I | V | K | G | T | K | Q | R | L | V | I | N | R | T | H | A | S | D | E | G | P | Y | K | L | I | V | G | R | V | E | T | N | C | N | L | S | V | E |
I | A | I | L | Q | G | L | S | D | Q | K | V | C | E | G | D | I | V | Q | L | E | V | K | V | S | L | E | S | V | E | G | V | W | M | K | D | G | Q | E | V | Q | P | S | D | R | V | H | I | V | I | D | K | Q | S | H | M | L | L | I | E | D | M | T | K | E | D | A | G | N | Y | S | F | T | I | P | A | L | G | L | S | T | S | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
2356 | 1 | I/F | 1 | None | 0.5299 | None | gnomAD-4.0.0 | 1.59064E-06 | |
2356 | 1 | I/L | 1 | rs1561261813 | 0.5299 | None | gnomAD-2.1.1 | 4E-06 | |
2356 | 1 | I/M | 1 | None | 0.5299 | None | gnomAD-4.0.0 | 6.84097E-07 | |
2356 | 1 | I/S | 1 | rs2091912353 | 0.5299 | None | gnomAD-4.0.0 | 4.77204E-06 | |
2356 | 1 | I/T | 1 | None | 0.5299 | None | gnomAD-4.0.0 | 1.59068E-06 | |
2358 | 3 | I/L | 3 | rs1175538754 | 0.2487 | None | gnomAD-4.0.0 | 2.05229E-06 | |
2358 | 3 | I/M | 3 | rs753536718 | 0.2487 | None | gnomAD-2.1.1 | 4E-06 | |
2358 | 3 | I/M | 3 | rs753536718 | 0.2487 | None | gnomAD-4.0.0 | 1.59073E-06 | |
2358 | 3 | I/V | 3 | rs1175538754 | 0.2487 | None | gnomAD-2.1.1 | 3.99E-06 | |
2358 | 3 | I/V | 3 | rs1175538754 | 0.2487 | None | gnomAD-3.1.2 | 1.31E-05 | |
2358 | 3 | I/V | 3 | rs1175538754 | 0.2487 | None | gnomAD-4.0.0 | 1.85876E-06 | |
2359 | 4 | L/P | 4 | None | 0.5168 | None | gnomAD-4.0.0 | 2.40064E-06 | |
2360 | 5 | Q/R | 5 | rs796903749 | 0.3031 | None | gnomAD-2.1.1 | 3.99E-06 | |
2360 | 5 | Q/R | 5 | rs796903749 | 0.3031 | None | gnomAD-3.1.2 | 1.31E-05 | |
2360 | 5 | Q/R | 5 | rs796903749 | 0.3031 | None | gnomAD-4.0.0 | 3.8421E-06 | |
2361 | 6 | G/A | 7 | None | 0.3148 | None | gnomAD-4.0.0 | 1.36822E-06 | |
2361 | 6 | G/E | 7 | rs763682763 | 0.3148 | None | gnomAD-2.1.1 | 3.99E-06 | |
2361 | 6 | G/E | 7 | rs763682763 | 0.3148 | None | gnomAD-4.0.0 | 2.05232E-06 | |
2361 | 6 | G/V | 7 | None | 0.3148 | None | gnomAD-4.0.0 | 6.84108E-07 | |
2362 | 7 | L/F | 8 | None | 0.2080 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2364 | 9 | D/H | 11 | rs1429499866 | 0.6144 | None | gnomAD-2.1.1 | 3.19E-05 | |
2364 | 9 | D/H | 11 | rs1429499866 | 0.6144 | None | gnomAD-3.1.2 | 6.57E-06 | |
2364 | 9 | D/H | 11 | rs1429499866 | 0.6144 | None | gnomAD-4.0.0 | 6.57402E-06 | |
2364 | 9 | D/N | 11 | None | 0.6144 | None | gnomAD-4.0.0 | 1.59076E-06 | |
2365 | 10 | Q/H | 13 | rs755961734 | 0.3336 | None | gnomAD-2.1.1 | 3.99E-06 | |
2367 | 12 | V/D | 16 | rs1234347852 | 0.1522 | None | gnomAD-2.1.1 | 7.97E-06 | |
2367 | 12 | V/D | 16 | rs1234347852 | 0.1522 | None | gnomAD-4.0.0 | 1.3682E-06 | |
2368 | 13 | C/F | 18 | None | 0.1017 | None | gnomAD-4.0.0 | 1.59067E-06 | |
2368 | 13 | C/G | 18 | rs1205174155 | 0.1017 | None | gnomAD-2.1.1 | 3.99E-06 | |
2368 | 13 | C/G | 18 | rs1205174155 | 0.1017 | None | gnomAD-4.0.0 | 1.59066E-06 | |
2368 | 13 | C/W | 18 | rs1485265360 | 0.1017 | None | gnomAD-4.0.0 | 1.59065E-06 | |
2370 | 15 | G/D | 24 | rs767484363 | 0.2268 | None | gnomAD-2.1.1 | 3.99E-06 | |
2370 | 15 | G/S | 24 | rs752484533 | 0.2268 | None | gnomAD-2.1.1 | 3.99E-06 | |
2370 | 15 | G/S | 24 | rs752484533 | 0.2268 | None | gnomAD-4.0.0 | 1.59067E-06 | |
2371 | 16 | D/E | 25 | None | 0.3215 | None | gnomAD-4.0.0 | 1.59067E-06 | |
2371 | 16 | D/G | 25 | None | 0.3215 | None | gnomAD-4.0.0 | 1.59064E-06 | |
2372 | 17 | I/T | 26 | None | 0.4824 | None | gnomAD-4.0.0 | 2.40064E-06 | |
2372 | 17 | I/V | 26 | rs117777236 | 0.4824 | None | gnomAD-4.0.0 | 1.59064E-06 | |
2373 | 18 | V/F | 28 | rs759496021 | 0.1581 | None | gnomAD-2.1.1 | 1.77E-05 | |
2373 | 18 | V/F | 28 | rs759496021 | 0.1581 | None | gnomAD-3.1.2 | 3.29E-05 | |
2373 | 18 | V/F | 28 | rs759496021 | 0.1581 | None | gnomAD-4.0.0 | 1.42508E-05 | |
2373 | 18 | V/I | 28 | None | 0.1581 | None | gnomAD-4.0.0 | 6.84097E-07 | |
2373 | 18 | V/L | 28 | None | 0.1581 | None | gnomAD-4.0.0 | 6.84097E-07 | |
2374 | 19 | Q/H | 29 | rs774105753 | 0.4590 | None | gnomAD-2.1.1 | 3.98E-06 | |
2374 | 19 | Q/H | 29 | rs774105753 | 0.4590 | None | gnomAD-3.1.2 | 6.57E-06 | |
2374 | 19 | Q/H | 29 | rs774105753 | 0.4590 | None | gnomAD-4.0.0 | 7.68386E-06 | |
2375 | 20 | L/P | 30 | rs954220478 | 0.1429 | None | gnomAD-2.1.1 | 3.98E-06 | |
2375 | 20 | L/P | 30 | rs954220478 | 0.1429 | None | gnomAD-3.1.2 | 1.31E-05 | |
2375 | 20 | L/P | 30 | rs954220478 | 0.1429 | None | gnomAD-4.0.0 | 3.09795E-06 | |
2375 | 20 | L/V | 30 | None | 0.1429 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2376 | 21 | E/K | 31 | rs1299039335 | 0.2331 | None | gnomAD-2.1.1 | 3.98E-06 | |
2376 | 21 | E/K | 31 | rs1299039335 | 0.2331 | None | gnomAD-4.0.0 | 3.60097E-06 | |
2378 | 23 | K/R | 34 | rs727503690 | 0.2366 | None | gnomAD-2.1.1 | 3.98E-06 | |
2378 | 23 | K/R | 34 | rs727503690 | 0.2366 | None | gnomAD-4.0.0 | 6.36256E-06 | |
2379 | 24 | V/L | 35 | None | 0.1246 | None | gnomAD-4.0.0 | 4.10452E-06 | |
2382 | 27 | E/G | 41 | rs773495315 | 0.4935 | None | gnomAD-2.1.1 | 8.15E-05 | |
2382 | 27 | E/G | 41 | rs773495315 | 0.4935 | None | gnomAD-3.1.2 | 8.54E-05 | |
2382 | 27 | E/G | 41 | rs773495315 | 0.4935 | None | gnomAD-4.0.0 | 2.47837E-05 | |
2383 | 28 | S/I | 43 | None | 0.8766 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2383 | 28 | S/N | 43 | rs2091903578 | 0.8766 | None | gnomAD-3.1.2 | 6.57E-06 | |
2383 | 28 | S/N | 43 | rs2091903578 | 0.8766 | None | gnomAD-4.0.0 | 2.02979E-06 | |
2383 | 28 | S/R | 43 | rs770123979 | 0.8766 | None | gnomAD-2.1.1 | 7.97E-06 | |
2383 | 28 | S/R | 43 | rs770123979 | 0.8766 | None | gnomAD-3.1.2 | 1.97E-05 | |
2383 | 28 | S/R | 43 | rs770123979 | 0.8766 | None | gnomAD-4.0.0 | 6.81487E-06 | |
2385 | 30 | E/G | 45 | rs1409894500 | 1.0082 | None | gnomAD-2.1.1 | 3.98E-06 | |
2385 | 30 | E/G | 45 | rs1409894500 | 1.0082 | None | gnomAD-4.0.0 | 1.59058E-06 | |
2385 | 30 | E/K | 45 | rs762331136 | 1.0082 | None | gnomAD-2.1.1 | 3.98E-06 | |
2385 | 30 | E/K | 45 | rs762331136 | 1.0082 | None | gnomAD-4.0.0 | 8.40225E-06 | |
2385 | 30 | E/V | 45 | rs1409894500 | 1.0082 | None | gnomAD-3.1.2 | 6.57E-06 | |
2385 | 30 | E/V | 45 | rs1409894500 | 1.0082 | None | gnomAD-4.0.0 | 6.57022E-06 | |
2386 | 31 | G/D | 46 | rs142926566 | 0.2479 | None | gnomAD-2.1.1 | 3.54E-05 | |
2386 | 31 | G/D | 46 | rs142926566 | 0.2479 | None | gnomAD-3.1.2 | 7.89E-05 | |
2386 | 31 | G/D | 46 | rs142926566 | 0.2479 | None | gnomAD-4.0.0 | 2.16843E-05 | |
2386 | 31 | G/S | 46 | rs777101912 | 0.2479 | None | gnomAD-2.1.1 | 8.5E-05 | |
2386 | 31 | G/S | 46 | rs777101912 | 0.2479 | None | gnomAD-3.1.2 | 6.57E-06 | |
2386 | 31 | G/S | 46 | rs777101912 | 0.2479 | None | gnomAD-4.0.0 | 1.23918E-05 | |
2387 | 32 | V/I | 47 | rs377691143 | 0.3643 | None | gnomAD-2.1.1 | 3.19E-05 | |
2387 | 32 | V/I | 47 | rs377691143 | 0.3643 | None | gnomAD-3.1.2 | 3.29E-05 | |
2387 | 32 | V/I | 47 | rs377691143 | 0.3643 | None | gnomAD-4.0.0 | 1.85877E-05 | |
2389 | 34 | M/K | 49 | rs748735241 | 0.2194 | None | gnomAD-2.1.1 | 7.97E-06 | |
2389 | 34 | M/K | 49 | rs748735241 | 0.2194 | None | gnomAD-3.1.2 | 6.57E-06 | |
2389 | 34 | M/K | 49 | rs748735241 | 0.2194 | None | gnomAD-4.0.0 | 7.68366E-06 | |
2389 | 34 | M/R | 49 | None | 0.2194 | None | gnomAD-4.0.0 | 6.36231E-06 | |
2390 | 35 | K/R | 50 | rs777470064 | 0.1678 | None | gnomAD-2.1.1 | 3.98E-06 | |
2390 | 35 | K/R | 50 | rs777470064 | 0.1678 | None | gnomAD-4.0.0 | 3.1811E-06 | |
2392 | 37 | G/S | 52 | rs4894048 | 0.4956 | None | gnomAD-2.1.1 | 6.77589E-02 | |
2392 | 37 | G/S | 52 | rs4894048 | 0.4956 | None | gnomAD-3.1.2 | 5.95038E-02 | |
2392 | 37 | G/S | 52 | rs4894048 | 0.4956 | None | 1000 genomes | 8.74601E-02 | |
2392 | 37 | G/S | 52 | rs4894048 | 0.4956 | None | gnomAD-4.0.0 | 4.05323E-02 | |
2393 | 38 | Q/R | 55 | rs754687695 | 0.7965 | None | gnomAD-2.1.1 | 1.2E-05 | |
2393 | 38 | Q/R | 55 | rs754687695 | 0.7965 | None | gnomAD-4.0.0 | 1.16293E-05 | |
2394 | 39 | E/Q | 56 | rs537269762 | 0.4994 | None | gnomAD-2.1.1 | 3.98E-06 | |
2394 | 39 | E/Q | 56 | rs537269762 | 0.4994 | None | gnomAD-3.1.2 | 4.6E-05 | |
2394 | 39 | E/Q | 56 | rs537269762 | 0.4994 | None | 1000 genomes | 1.99681E-04 | |
2394 | 39 | E/Q | 56 | rs537269762 | 0.4994 | None | gnomAD-4.0.0 | 1.53653E-05 | |
2394 | 39 | E/V | 56 | rs929251010 | 0.4994 | None | gnomAD-4.0.0 | 1.59055E-06 | |
2395 | 40 | V/A | 58 | None | 0.2070 | None | gnomAD-4.0.0 | 6.84081E-07 | |
2395 | 40 | V/E | 58 | rs1193803834 | 0.2070 | None | gnomAD-4.0.0 | 2.73632E-06 | |
2396 | 41 | Q/L | 59 | None | 0.4926 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2397 | 42 | P/L | 70 | None | 0.5615 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2397 | 42 | P/R | 70 | None | 0.5615 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2398 | 43 | S/I | 73 | rs766170235 | 0.2896 | None | gnomAD-2.1.1 | 3.98E-06 | |
2398 | 43 | S/I | 73 | rs766170235 | 0.2896 | None | gnomAD-3.1.2 | 6.57E-06 | |
2398 | 43 | S/I | 73 | rs766170235 | 0.2896 | None | gnomAD-4.0.0 | 3.84197E-06 | |
2399 | 44 | D/G | 109 | rs750522225 | 1.0963 | None | gnomAD-2.1.1 | 3.98E-06 | |
2399 | 44 | D/G | 109 | rs750522225 | 1.0963 | None | gnomAD-4.0.0 | 3.18106E-06 | |
2399 | 44 | D/N | 109 | rs763147469 | 1.0963 | None | gnomAD-2.1.1 | 3.98E-06 | |
2399 | 44 | D/N | 109 | rs763147469 | 1.0963 | None | gnomAD-4.0.0 | 1.59058E-06 | |
2400 | 45 | R/G | 115 | rs765593704 | 0.2842 | None | gnomAD-2.1.1 | 3.98E-06 | |
2400 | 45 | R/G | 115 | rs765593704 | 0.2842 | None | gnomAD-4.0.0 | 3.1811E-06 | |
2400 | 45 | R/K | 115 | None | 0.2842 | None | gnomAD-4.0.0 | 3.18109E-06 | |
2400 | 45 | R/S | 115 | None | 0.2842 | None | gnomAD-4.0.0 | 1.59056E-06 | |
2401 | 46 | V/F | 121 | rs762102248 | 0.1553 | None | gnomAD-2.1.1 | 3.99E-06 | |
2401 | 46 | V/F | 121 | rs762102248 | 0.1553 | None | gnomAD-4.0.0 | 3.18112E-06 | |
2401 | 46 | V/I | 121 | rs762102248 | 0.1553 | None | gnomAD-2.1.1 | 3.99E-06 | |
2401 | 46 | V/I | 121 | rs762102248 | 0.1553 | None | gnomAD-4.0.0 | 4.77168E-06 | |
2402 | 47 | H/L | 122 | rs776956593 | 0.3525 | None | gnomAD-2.1.1 | 3.98E-06 | |
2402 | 47 | H/L | 122 | rs776956593 | 0.3525 | None | gnomAD-4.0.0 | 1.59055E-06 | |
2403 | 48 | I/T | 123 | rs760895168 | 0.3415 | None | gnomAD-2.1.1 | 3.98E-06 | |
2403 | 48 | I/T | 123 | rs760895168 | 0.3415 | None | gnomAD-4.0.0 | 9.57706E-06 | |
2403 | 48 | I/V | 123 | rs1415643045 | 0.3415 | None | gnomAD-2.1.1 | 3.98E-06 | |
2403 | 48 | I/V | 123 | rs1415643045 | 0.3415 | None | gnomAD-4.0.0 | 1.36815E-06 | |
2405 | 50 | I/M | 127 | None | 0.5230 | None | gnomAD-4.0.0 | 1.59053E-06 | |
2405 | 50 | I/T | 127 | rs776126188 | 0.5230 | None | gnomAD-2.1.1 | 3.99E-06 | |
2405 | 50 | I/T | 127 | rs776126188 | 0.5230 | None | gnomAD-4.0.0 | 4.10443E-06 | |
2405 | 50 | I/V | 127 | rs1055161708 | 0.5230 | None | gnomAD-4.0.0 | 1.36814E-06 | |
2406 | 51 | D/E | 130 | rs772454567 | 0.6241 | None | gnomAD-2.1.1 | 3.99E-06 | |
2406 | 51 | D/E | 130 | rs772454567 | 0.6241 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2406 | 51 | D/G | 130 | rs2091891924 | 0.6241 | None | gnomAD-3.1.2 | 6.57E-06 | |
2406 | 51 | D/G | 130 | rs2091891924 | 0.6241 | None | gnomAD-4.0.0 | 2.56126E-06 | |
2406 | 51 | D/N | 130 | None | 0.6241 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2407 | 52 | K/E | 131 | None | 0.5542 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2407 | 52 | K/R | 131 | rs748869225 | 0.5542 | None | gnomAD-2.1.1 | 1.2E-05 | |
2407 | 52 | K/R | 131 | rs748869225 | 0.5542 | None | gnomAD-4.0.0 | 2.73629E-06 | |
2408 | 53 | Q/R | 134 | rs777244038 | 0.2966 | None | gnomAD-2.1.1 | 5.18E-05 | |
2408 | 53 | Q/R | 134 | rs777244038 | 0.2966 | None | gnomAD-3.1.2 | 6.57E-06 | |
2408 | 53 | Q/R | 134 | rs777244038 | 0.2966 | None | gnomAD-4.0.0 | 3.09798E-05 | |
2409 | 54 | S/C | 135 | rs769246937 | 0.1804 | None | gnomAD-2.1.1 | 3.99E-06 | |
2409 | 54 | S/C | 135 | rs769246937 | 0.1804 | None | gnomAD-4.0.0 | 6.84073E-07 | |
2409 | 54 | S/Y | 135 | rs769246937 | 0.1804 | None | gnomAD-2.1.1 | 3.99E-06 | |
2409 | 54 | S/Y | 135 | rs769246937 | 0.1804 | None | gnomAD-4.0.0 | 6.84073E-06 | |
2410 | 55 | H/R | 136 | rs747828487 | 0.1703 | None | gnomAD-2.1.1 | 7.97E-06 | |
2410 | 55 | H/R | 136 | rs747828487 | 0.1703 | None | gnomAD-3.1.2 | 1.32E-05 | |
2410 | 55 | H/R | 136 | rs747828487 | 0.1703 | None | gnomAD-4.0.0 | 4.96938E-06 | |
2411 | 56 | M/V | 137 | rs1333177270 | 0.2161 | None | gnomAD-2.1.1 | 3.99E-06 | |
2411 | 56 | M/V | 137 | rs1333177270 | 0.2161 | None | gnomAD-4.0.0 | 1.36815E-06 | |
2412 | 57 | L/M | 138 | None | 0.0889 | None | gnomAD-4.0.0 | 1.59053E-06 | |
2412 | 57 | L/R | 138 | None | 0.0889 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2413 | 58 | L/F | 139 | rs780754758 | 0.3114 | None | gnomAD-2.1.1 | 3.99E-06 | |
2413 | 58 | L/F | 139 | rs780754758 | 0.3114 | None | gnomAD-4.0.0 | 1.36815E-06 | |
2414 | 59 | I/L | 140 | rs754815454 | 0.1272 | None | gnomAD-2.1.1 | 7.98E-06 | |
2414 | 59 | I/L | 140 | rs754815454 | 0.1272 | None | gnomAD-4.0.0 | 1.36816E-06 | |
2414 | 59 | I/V | 140 | None | 0.1272 | None | gnomAD-4.0.0 | 4.10447E-06 | |
2415 | 60 | E/D | 141 | None | 0.4313 | None | gnomAD-4.0.0 | 3.18109E-06 | |
2415 | 60 | E/V | 141 | rs1462312746 | 0.4313 | None | gnomAD-3.1.2 | 1.31E-05 | |
2415 | 60 | E/V | 141 | rs1462312746 | 0.4313 | None | gnomAD-4.0.0 | 4.95669E-06 | |
2416 | 61 | D/G | 143 | rs780102382 | 0.4443 | None | gnomAD-2.1.1 | 3.99E-06 | |
2416 | 61 | D/G | 143 | rs780102382 | 0.4443 | None | gnomAD-4.0.0 | 2.7363E-06 | |
2416 | 61 | D/N | 143 | rs1383990376 | 0.4443 | None | gnomAD-2.1.1 | 3.99E-06 | |
2416 | 61 | D/N | 143 | rs1383990376 | 0.4443 | None | gnomAD-3.1.2 | 6.57E-06 | |
2416 | 61 | D/N | 143 | rs1383990376 | 0.4443 | None | gnomAD-4.0.0 | 3.84175E-06 | |
2417 | 62 | M/I | 144 | rs765426928 | 0.0791 | None | gnomAD-2.1.1 | 3.99E-06 | |
2417 | 62 | M/I | 144 | rs765426928 | 0.0791 | None | gnomAD-4.0.0 | 1.59057E-06 | |
2417 | 62 | M/T | 144 | rs758233166 | 0.0791 | None | gnomAD-2.1.1 | 3.99E-06 | |
2418 | 63 | T/A | 145 | None | 0.2225 | None | gnomAD-4.0.0 | 1.59055E-06 | |
2420 | 65 | E/G | 148 | None | 0.8602 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2421 | 66 | D/G | 149 | rs1181070487 | 0.1851 | None | gnomAD-2.1.1 | 3.18E-05 | |
2421 | 66 | D/G | 149 | rs1181070487 | 0.1851 | None | gnomAD-3.1.2 | 6.57E-06 | |
2421 | 66 | D/G | 149 | rs1181070487 | 0.1851 | None | gnomAD-4.0.0 | 2.02981E-06 | |
2422 | 67 | A/V | 151 | rs1365893831 | 0.2417 | None | gnomAD-3.1.2 | 6.57E-06 | |
2422 | 67 | A/V | 151 | rs1365893831 | 0.2417 | None | gnomAD-4.0.0 | 6.57376E-06 | |
2423 | 68 | G/A | 152 | None | 0.1797 | None | gnomAD-4.0.0 | 1.5906E-06 | |
2423 | 68 | G/R | 152 | None | 0.1797 | None | gnomAD-4.0.0 | 2.40064E-06 | |
2424 | 69 | N/D | 153 | None | 0.4238 | None | gnomAD-4.0.0 | 1.36816E-06 | |
2424 | 69 | N/S | 153 | rs927165447 | 0.4238 | None | gnomAD-2.1.1 | 3.99E-06 | |
2424 | 69 | N/S | 153 | rs927165447 | 0.4238 | None | gnomAD-4.0.0 | 3.18114E-06 | |
2426 | 71 | S/C | 155 | None | 0.2096 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2428 | 73 | T/A | 157 | None | 0.2688 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2428 | 73 | T/I | 157 | rs1372427640 | 0.2688 | None | gnomAD-2.1.1 | 3.99E-06 | |
2428 | 73 | T/I | 157 | rs1372427640 | 0.2688 | None | gnomAD-3.1.2 | 6.57E-06 | |
2428 | 73 | T/I | 157 | rs1372427640 | 0.2688 | None | gnomAD-4.0.0 | 3.842E-06 | |
2428 | 73 | T/N | 157 | None | 0.2688 | None | gnomAD-3.1.2 | 6.57E-06 | |
2428 | 73 | T/N | 157 | None | 0.2688 | None | gnomAD-4.0.0 | 6.57272E-06 | |
2429 | 74 | I/L | 158 | None | 0.1285 | None | gnomAD-4.0.0 | 1.59059E-06 | |
2429 | 74 | I/S | 158 | None | 0.1285 | None | gnomAD-4.0.0 | 1.59059E-06 | |
2429 | 74 | I/T | 158 | rs148266341 | 0.1285 | None | gnomAD-4.0.0 | 1.59059E-06 | |
2430 | 75 | P/L | 159 | rs775687221 | 0.5449 | None | gnomAD-2.1.1 | 7.99E-06 | |
2430 | 75 | P/L | 159 | rs775687221 | 0.5449 | None | gnomAD-4.0.0 | 6.36227E-06 | |
2430 | 75 | P/S | 159 | rs761169279 | 0.5449 | None | gnomAD-2.1.1 | 3.99E-06 | |
2430 | 75 | P/S | 159 | rs761169279 | 0.5449 | None | gnomAD-4.0.0 | 1.36816E-06 | |
2430 | 75 | P/T | 159 | rs761169279 | 0.5449 | None | gnomAD-2.1.1 | 1.06E-05 | |
2430 | 75 | P/T | 159 | rs761169279 | 0.5449 | None | gnomAD-3.1.2 | 1.31E-05 | |
2430 | 75 | P/T | 159 | rs761169279 | 0.5449 | None | gnomAD-4.0.0 | 2.47831E-06 | |
2431 | 76 | A/S | 161 | None | 0.6021 | None | gnomAD-4.0.0 | 1.36816E-06 | |
2432 | 77 | L/F | 162 | rs571572592 | 0.4429 | None | gnomAD-2.1.1 | 7.99E-06 | |
2432 | 77 | L/F | 162 | rs571572592 | 0.4429 | None | 1000 genomes | 1.99681E-04 | |
2432 | 77 | L/F | 162 | rs571572592 | 0.4429 | None | gnomAD-4.0.0 | 6.56694E-06 | |
2434 | 79 | L/H | 164 | rs774798625 | 0.3460 | None | gnomAD-2.1.1 | 3.99E-06 | |
2434 | 79 | L/H | 164 | rs774798625 | 0.3460 | None | gnomAD-4.0.0 | 3.42042E-06 | |
2434 | 79 | L/R | 164 | rs774798625 | 0.3460 | None | gnomAD-2.1.1 | 7.99E-06 | |
2434 | 79 | L/R | 164 | rs774798625 | 0.3460 | None | gnomAD-3.1.2 | 1.31E-05 | |
2434 | 79 | L/R | 164 | rs774798625 | 0.3460 | None | gnomAD-4.0.0 | 4.33712E-06 | |
2436 | 81 | T/I | 168 | rs769296240 | 0.1786 | None | gnomAD-2.1.1 | 7.99E-06 | |
2436 | 81 | T/I | 168 | rs769296240 | 0.1786 | None | gnomAD-4.0.0 | 4.7718E-06 | |
2437 | 82 | S/T | 169 | None | 0.4746 | None | gnomAD-4.0.0 | 1.59061E-06 |