10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
T | P | G | P | V | V | D | L | K | V | R | S | V | S | K | S | S | C | S | I | G | W | K | K | P | H | S | D | G | G | S | R | I | I | G | Y | V | V | D | F | L | T | E | E | N | K | W | Q | R | V | M | K | S | L | S | L | Q | Y | S | A | K | D | L | T | E | G | K | E | Y | T | F | R | V | S | A | E | N | E | N | G | E | G | T | P | S | E | I | T | V | V | A | R | D |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
22452 | 2 | P/A | 2 | rs760822987 | 0.1846 | None | gnomAD-2.1.1 | 1.22E-05 | |
22452 | 2 | P/A | 2 | rs760822987 | 0.1846 | None | gnomAD-4.0.0 | 2.05388E-06 | |
22452 | 2 | P/H | 2 | rs775911087 | 0.1846 | None | gnomAD-2.1.1 | 2.03E-05 | |
22452 | 2 | P/H | 2 | rs775911087 | 0.1846 | None | gnomAD-4.0.0 | 5.57717E-05 | |
22452 | 2 | P/S | 2 | rs760822987 | 0.1846 | None | gnomAD-2.1.1 | 4.06E-06 | |
22452 | 2 | P/S | 2 | rs760822987 | 0.1846 | None | gnomAD-3.1.2 | 6.58E-06 | |
22452 | 2 | P/S | 2 | rs760822987 | 0.1846 | None | gnomAD-4.0.0 | 1.4262E-05 | |
22452 | 2 | P/T | 2 | None | 0.1846 | None | gnomAD-2.1.1 | 2.03E-05 | |
22452 | 2 | P/T | 2 | None | 0.1846 | None | gnomAD-4.0.0 | 2.39619E-05 | |
22453 | 3 | G/R | 3 | rs373706642 | 0.3224 | None | gnomAD-2.1.1 | 1.44E-05 | |
22453 | 3 | G/R | 3 | rs373706642 | 0.3224 | None | gnomAD-3.1.2 | 1.32E-05 | |
22453 | 3 | G/R | 3 | rs373706642 | 0.3224 | None | gnomAD-4.0.0 | 6.41399E-06 | |
22454 | 4 | P/A | 4 | rs1357187805 | 0.4750 | None | gnomAD-2.1.1 | 4.05E-06 | |
22454 | 4 | P/A | 4 | rs1357187805 | 0.4750 | None | gnomAD-4.0.0 | 1.59334E-06 | |
22455 | 5 | V/I | 5 | rs759848349 | 0.1762 | None | gnomAD-2.1.1 | 1.62E-05 | |
22455 | 5 | V/I | 5 | rs759848349 | 0.1762 | None | gnomAD-3.1.2 | 3.29E-05 | |
22455 | 5 | V/I | 5 | rs759848349 | 0.1762 | None | gnomAD-4.0.0 | 1.7978E-05 | |
22455 | 5 | V/L | 5 | rs759848349 | 0.1762 | None | gnomAD-2.1.1 | 4.05E-06 | |
22455 | 5 | V/L | 5 | rs759848349 | 0.1762 | None | gnomAD-3.1.2 | 6.58E-06 | |
22455 | 5 | V/L | 5 | rs759848349 | 0.1762 | None | gnomAD-4.0.0 | 3.09965E-06 | |
22456 | 6 | V/M | 6 | rs2047288544 | 0.2955 | None | gnomAD-3.1.2 | 1.97E-05 | |
22456 | 6 | V/M | 6 | rs2047288544 | 0.2955 | None | gnomAD-4.0.0 | 1.97275E-05 | |
22457 | 7 | D/A | 7 | rs1023600080 | 0.4117 | None | gnomAD-3.1.2 | 1.97E-05 | |
22457 | 7 | D/A | 7 | rs1023600080 | 0.4117 | None | gnomAD-4.0.0 | 7.43906E-06 | |
22457 | 7 | D/H | 7 | rs774749791 | 0.4117 | None | gnomAD-2.1.1 | 8.09E-06 | |
22457 | 7 | D/H | 7 | rs774749791 | 0.4117 | None | gnomAD-4.0.0 | 4.10666E-06 | |
22458 | 8 | L/P | 9 | None | 0.2551 | None | gnomAD-4.0.0 | 1.59238E-06 | |
22460 | 10 | V/G | 12 | None | 0.3166 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22460 | 10 | V/L | 12 | rs769408902 | 0.3166 | None | gnomAD-2.1.1 | 1.21E-05 | |
22460 | 10 | V/L | 12 | rs769408902 | 0.3166 | None | gnomAD-4.0.0 | 1.36882E-06 | |
22460 | 10 | V/M | 12 | rs769408902 | 0.3166 | None | gnomAD-4.0.0 | 6.84411E-07 | |
22461 | 11 | R/K | 13 | None | 0.7031 | None | gnomAD-4.0.0 | 3.18459E-06 | |
22461 | 11 | R/W | 13 | None | 0.7031 | None | gnomAD-4.0.0 | 3.1846E-06 | |
22463 | 13 | V/L | 15 | rs1162620445 | 0.5314 | None | gnomAD-2.1.1 | 3.19E-05 | |
22463 | 13 | V/L | 15 | rs1162620445 | 0.5314 | None | gnomAD-3.1.2 | 6.58E-06 | |
22463 | 13 | V/L | 15 | rs1162620445 | 0.5314 | None | gnomAD-4.0.0 | 6.57566E-06 | |
22464 | 14 | S/P | 16 | rs1430161296 | 0.3956 | None | gnomAD-2.1.1 | 3.19E-05 | |
22464 | 14 | S/P | 16 | rs1430161296 | 0.3956 | None | gnomAD-3.1.2 | 6.58E-06 | |
22464 | 14 | S/P | 16 | rs1430161296 | 0.3956 | None | gnomAD-4.0.0 | 6.40934E-06 | |
22465 | 15 | K/T | 17 | rs761425517 | 0.7407 | None | gnomAD-2.1.1 | 4.04E-06 | |
22465 | 15 | K/T | 17 | rs761425517 | 0.7407 | None | gnomAD-4.0.0 | 1.59223E-06 | |
22467 | 17 | S/F | 19 | None | 0.3320 | None | gnomAD-4.0.0 | 1.59227E-06 | |
22467 | 17 | S/P | 19 | rs1470231213 | 0.3320 | None | gnomAD-4.0.0 | 6.8439E-07 | |
22467 | 17 | S/T | 19 | None | 0.3320 | None | gnomAD-4.0.0 | 6.8439E-07 | |
22468 | 18 | C/G | 20 | rs776356515 | 0.2544 | None | gnomAD-2.1.1 | 4.04E-06 | |
22468 | 18 | C/G | 20 | rs776356515 | 0.2544 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22468 | 18 | C/Y | 20 | rs767981131 | 0.2544 | None | gnomAD-2.1.1 | 4.04E-06 | |
22468 | 18 | C/Y | 20 | rs767981131 | 0.2544 | None | gnomAD-4.0.0 | 1.59228E-06 | |
22469 | 19 | S/R | 21 | rs753623758 | 0.2446 | None | gnomAD-2.1.1 | 4.04E-06 | |
22469 | 19 | S/R | 21 | rs753623758 | 0.2446 | None | gnomAD-3.1.2 | 6.58E-06 | |
22469 | 19 | S/R | 21 | rs753623758 | 0.2446 | None | gnomAD-4.0.0 | 3.09941E-06 | |
22470 | 20 | I/T | 22 | rs746559118 | 0.1426 | None | gnomAD-2.1.1 | 8.08E-06 | |
22470 | 20 | I/T | 22 | rs746559118 | 0.1426 | None | gnomAD-3.1.2 | 1.32E-05 | |
22470 | 20 | I/T | 22 | rs746559118 | 0.1426 | None | gnomAD-4.0.0 | 4.33923E-06 | |
22471 | 21 | G/S | 23 | None | 0.1340 | None | gnomAD-4.0.0 | 1.59234E-06 | |
22473 | 23 | K/E | 25 | rs1164219894 | 0.4384 | None | gnomAD-4.0.0 | 2.05323E-06 | |
22474 | 24 | K/N | 26 | rs780089189 | 0.6644 | None | gnomAD-2.1.1 | 8.07E-06 | |
22474 | 24 | K/N | 26 | rs780089189 | 0.6644 | None | gnomAD-4.0.0 | 1.36882E-06 | |
22476 | 26 | H/N | 28 | None | 1.0623 | None | gnomAD-4.0.0 | 1.20033E-06 | |
22476 | 26 | H/R | 28 | rs2047271045 | 1.0623 | None | gnomAD-3.1.2 | 6.58E-06 | |
22476 | 26 | H/R | 28 | rs2047271045 | 1.0623 | None | gnomAD-4.0.0 | 6.57609E-06 | |
22479 | 29 | G/A | 31 | None | 0.3835 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22479 | 29 | G/D | 31 | rs2047268988 | 0.3835 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22479 | 29 | G/S | 31 | rs1195666746 | 0.3835 | None | gnomAD-2.1.1 | 4.04E-06 | |
22479 | 29 | G/S | 31 | rs1195666746 | 0.3835 | None | gnomAD-4.0.0 | 3.1845E-06 | |
22480 | 30 | G/R | 32 | rs778919674 | 0.6717 | None | gnomAD-4.0.0 | 1.59229E-06 | |
22481 | 31 | S/R | 33 | rs1268356218 | 0.2471 | None | gnomAD-2.1.1 | 4.03E-06 | |
22481 | 31 | S/R | 33 | rs1268356218 | 0.2471 | None | gnomAD-4.0.0 | 1.59227E-06 | |
22482 | 32 | R/L | 34 | None | 0.9104 | None | gnomAD-4.0.0 | 2.05321E-06 | |
22482 | 32 | R/Q | 34 | rs200146608 | 0.9104 | None | gnomAD-2.1.1 | 1.61177E-04 | |
22482 | 32 | R/Q | 34 | rs200146608 | 0.9104 | None | gnomAD-3.1.2 | 1.1843E-04 | |
22482 | 32 | R/Q | 34 | rs200146608 | 0.9104 | None | 1000 genomes | 3.99361E-04 | |
22482 | 32 | R/Q | 34 | rs200146608 | 0.9104 | None | gnomAD-4.0.0 | 1.05378E-04 | |
22482 | 32 | R/W | 34 | rs563233842 | 0.9104 | None | gnomAD-2.1.1 | 4.47743E-04 | |
22482 | 32 | R/W | 34 | rs563233842 | 0.9104 | None | gnomAD-3.1.2 | 1.77732E-04 | |
22482 | 32 | R/W | 34 | rs563233842 | 0.9104 | None | 1000 genomes | 1.39776E-03 | |
22482 | 32 | R/W | 34 | rs563233842 | 0.9104 | None | gnomAD-4.0.0 | 2.16965E-04 | |
22483 | 33 | I/V | 35 | rs1291879446 | 0.2040 | None | gnomAD-2.1.1 | 4.03E-06 | |
22483 | 33 | I/V | 35 | rs1291879446 | 0.2040 | None | gnomAD-4.0.0 | 1.59227E-06 | |
22484 | 34 | I/L | 36 | None | 0.4303 | None | gnomAD-4.0.0 | 6.84401E-07 | |
22484 | 34 | I/T | 36 | rs903308296 | 0.4303 | None | gnomAD-2.1.1 | 4.03E-06 | |
22484 | 34 | I/T | 36 | rs903308296 | 0.4303 | None | gnomAD-3.1.2 | 6.58E-06 | |
22484 | 34 | I/T | 36 | rs903308296 | 0.4303 | None | gnomAD-4.0.0 | 2.16964E-05 | |
22484 | 34 | I/V | 36 | None | 0.4303 | None | gnomAD-4.0.0 | 6.84401E-07 | |
22487 | 37 | V/A | 39 | rs879097484 | 0.1198 | None | gnomAD-4.0.0 | 2.05323E-06 | |
22488 | 38 | V/I | 40 | rs1553622498 | 0.0857 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22489 | 39 | D/H | 41 | None | 0.1283 | None | gnomAD-4.0.0 | 1.59238E-06 | |
22490 | 40 | F/I | 42 | rs924529776 | 0.2180 | None | gnomAD-2.1.1 | 4.03E-06 | |
22490 | 40 | F/I | 42 | rs924529776 | 0.2180 | None | gnomAD-3.1.2 | 6.58E-06 | |
22490 | 40 | F/I | 42 | rs924529776 | 0.2180 | None | gnomAD-4.0.0 | 6.57722E-06 | |
22492 | 42 | T/N | 44 | rs1268182721 | 0.1506 | None | gnomAD-2.1.1 | 4.03E-06 | |
22492 | 42 | T/S | 44 | None | 0.1506 | None | gnomAD-4.0.0 | 2.05322E-06 | |
22495 | 45 | N/S | 63 | None | 0.7669 | None | gnomAD-4.0.0 | 2.05318E-06 | |
22496 | 46 | K/R | 64 | rs397517669 | 0.4696 | None | gnomAD-2.1.1 | 1.61E-05 | |
22496 | 46 | K/R | 64 | rs397517669 | 0.4696 | None | gnomAD-4.0.0 | 1.43722E-05 | |
22497 | 47 | W/R | 65 | rs1282105128 | 0.3162 | None | gnomAD-2.1.1 | 4.03E-06 | |
22497 | 47 | W/R | 65 | rs1282105128 | 0.3162 | None | gnomAD-4.0.0 | 1.59225E-06 | |
22499 | 49 | R/G | 67 | rs574660186 | 0.3095 | None | gnomAD-4.0.0 | 3.42206E-06 | |
22499 | 49 | R/Q | 67 | rs767993624 | 0.3095 | None | gnomAD-2.1.1 | 3.94E-05 | |
22499 | 49 | R/Q | 67 | rs767993624 | 0.3095 | None | gnomAD-3.1.2 | 1.97E-05 | |
22499 | 49 | R/Q | 67 | rs767993624 | 0.3095 | None | gnomAD-4.0.0 | 1.23986E-05 | |
22500 | 50 | V/G | 68 | rs760079543 | 0.2228 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22501 | 51 | M/I | 69 | rs751903421 | 0.1937 | None | gnomAD-2.1.1 | 8.06E-06 | |
22501 | 51 | M/I | 69 | rs751903421 | 0.1937 | None | gnomAD-4.0.0 | 1.77943E-05 | |
22501 | 51 | M/L | 69 | None | 0.1937 | None | gnomAD-4.0.0 | 1.59229E-06 | |
22501 | 51 | M/T | 69 | rs2047253613 | 0.1937 | None | gnomAD-4.0.0 | 2.73757E-06 | |
22501 | 51 | M/V | 69 | None | 0.1937 | None | gnomAD-4.0.0 | 1.59229E-06 | |
22502 | 52 | K/N | 70 | None | 0.4307 | None | gnomAD-4.0.0 | 1.59224E-06 | |
22503 | 53 | S/F | 72 | None | 0.2982 | None | gnomAD-4.0.0 | 6.84396E-07 | |
22503 | 53 | S/P | 72 | None | 0.2982 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22503 | 53 | S/Y | 72 | None | 0.2982 | None | gnomAD-4.0.0 | 2.73758E-06 | |
22505 | 55 | S/R | 88 | None | 0.2462 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22506 | 56 | L/P | 89 | None | 0.2470 | None | gnomAD-4.0.0 | 1.59225E-06 | |
22507 | 57 | Q/H | 90 | None | 0.5985 | None | gnomAD-4.0.0 | 1.5922E-06 | |
22508 | 58 | Y/D | 91 | rs763377678 | 0.2781 | None | gnomAD-2.1.1 | 1.21E-05 | |
22508 | 58 | Y/D | 91 | rs763377678 | 0.2781 | None | gnomAD-4.0.0 | 3.18439E-06 | |
22508 | 58 | Y/F | 91 | None | 0.2781 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22508 | 58 | Y/N | 91 | None | 0.2781 | None | gnomAD-2.1.1 | 7.15E-06 | |
22508 | 58 | Y/N | 91 | None | 0.2781 | None | gnomAD-3.1.2 | 6.58E-06 | |
22508 | 58 | Y/N | 91 | None | 0.2781 | None | gnomAD-4.0.0 | 6.57652E-06 | |
22509 | 59 | S/P | 92 | None | 0.4313 | None | gnomAD-4.0.0 | 1.59222E-06 | |
22510 | 60 | A/T | 93 | rs1394859997 | 0.2362 | None | gnomAD-2.1.1 | 4.03E-06 | |
22511 | 61 | K/R | 94 | rs368046394 | 0.8183 | None | gnomAD-2.1.1 | 8.06E-06 | |
22511 | 61 | K/R | 94 | rs368046394 | 0.8183 | None | gnomAD-4.0.0 | 2.05314E-06 | |
22512 | 62 | D/E | 96 | rs760531418 | 0.8281 | None | gnomAD-4.0.0 | 1.08029E-05 | |
22512 | 62 | D/G | 96 | None | 0.8281 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22512 | 62 | D/Y | 96 | rs786205540 | 0.8281 | None | gnomAD-4.0.0 | 3.18433E-06 | |
22513 | 63 | L/M | 97 | None | 0.1844 | None | gnomAD-4.0.0 | 6.84372E-07 | |
22514 | 64 | T/I | 98 | rs544847834 | 0.5609 | None | gnomAD-2.1.1 | 1.21E-05 | |
22514 | 64 | T/I | 98 | rs544847834 | 0.5609 | None | gnomAD-3.1.2 | 1.32E-05 | |
22514 | 64 | T/I | 98 | rs544847834 | 0.5609 | None | 1000 genomes | 3.99361E-04 | |
22514 | 64 | T/I | 98 | rs544847834 | 0.5609 | None | gnomAD-4.0.0 | 4.33885E-06 | |
22514 | 64 | T/S | 98 | rs561270636 | 0.5609 | None | gnomAD-2.1.1 | 8.05E-06 | |
22514 | 64 | T/S | 98 | rs561270636 | 0.5609 | None | gnomAD-3.1.2 | 6.58E-06 | |
22514 | 64 | T/S | 98 | rs561270636 | 0.5609 | None | 1000 genomes | 1.99681E-04 | |
22514 | 64 | T/S | 98 | rs561270636 | 0.5609 | None | gnomAD-4.0.0 | 3.09914E-06 | |
22516 | 66 | G/R | 100 | rs1199563785 | 0.7306 | None | gnomAD-2.1.1 | 4.03E-06 | |
22516 | 66 | G/R | 100 | rs1199563785 | 0.7306 | None | gnomAD-4.0.0 | 1.59214E-06 | |
22517 | 67 | K/R | 102 | None | 0.4062 | None | gnomAD-4.0.0 | 2.40078E-06 | |
22518 | 68 | E/K | 103 | rs371063328 | 0.6611 | None | gnomAD-2.1.1 | 8.05E-06 | |
22518 | 68 | E/K | 103 | rs371063328 | 0.6611 | None | gnomAD-3.1.2 | 1.32E-05 | |
22518 | 68 | E/K | 103 | rs371063328 | 0.6611 | None | gnomAD-4.0.0 | 1.31543E-05 | |
22518 | 68 | E/Q | 103 | None | 0.6611 | None | gnomAD-4.0.0 | 2.40078E-06 | |
22519 | 69 | Y/D | 104 | rs779007987 | 0.3275 | None | gnomAD-2.1.1 | 4.03E-06 | |
22519 | 69 | Y/D | 104 | rs779007987 | 0.3275 | None | gnomAD-4.0.0 | 6.15957E-06 | |
22522 | 72 | R/K | 107 | None | 0.1726 | None | gnomAD-4.0.0 | 4.79053E-06 | |
22522 | 72 | R/T | 107 | rs1221271318 | 0.1726 | None | gnomAD-2.1.1 | 4.03E-06 | |
22522 | 72 | R/T | 107 | rs1221271318 | 0.1726 | None | gnomAD-4.0.0 | 1.36872E-06 | |
22523 | 73 | V/G | 108 | rs1274914285 | 0.1062 | None | gnomAD-2.1.1 | 4.03E-06 | |
22524 | 74 | S/N | 109 | rs397517670 | 0.1650 | None | gnomAD-2.1.1 | 2.01E-05 | |
22524 | 74 | S/N | 109 | rs397517670 | 0.1650 | None | gnomAD-3.1.2 | 1.32E-05 | |
22524 | 74 | S/N | 109 | rs397517670 | 0.1650 | None | gnomAD-4.0.0 | 2.16952E-05 | |
22525 | 75 | A/D | 110 | None | 0.1306 | None | gnomAD-4.0.0 | 1.36873E-06 | |
22525 | 75 | A/V | 110 | rs781320550 | 0.1306 | None | gnomAD-2.1.1 | 4.03E-06 | |
22525 | 75 | A/V | 110 | rs781320550 | 0.1306 | None | gnomAD-4.0.0 | 2.73746E-06 | |
22526 | 76 | E/D | 111 | rs751993220 | 0.1801 | None | gnomAD-2.1.1 | 1.61E-05 | |
22526 | 76 | E/D | 111 | rs751993220 | 0.1801 | None | gnomAD-4.0.0 | 6.36831E-06 | |
22528 | 78 | E/K | 113 | rs1416365418 | 0.5633 | None | gnomAD-2.1.1 | 4.03E-06 | |
22528 | 78 | E/K | 113 | rs1416365418 | 0.5633 | None | gnomAD-3.1.2 | 6.58E-06 | |
22528 | 78 | E/K | 113 | rs1416365418 | 0.5633 | None | gnomAD-4.0.0 | 3.84521E-06 | |
22529 | 79 | N/S | 114 | None | 0.6392 | None | gnomAD-4.0.0 | 4.1062E-06 | |
22530 | 80 | G/A | 115 | rs1198096692 | 0.2257 | None | gnomAD-2.1.1 | 4.03E-06 | |
22530 | 80 | G/A | 115 | rs1198096692 | 0.2257 | None | gnomAD-4.0.0 | 1.59211E-06 | |
22530 | 80 | G/V | 115 | rs1198096692 | 0.2257 | None | gnomAD-3.1.2 | 6.58E-06 | |
22530 | 80 | G/V | 115 | rs1198096692 | 0.2257 | None | gnomAD-4.0.0 | 6.57739E-06 | |
22531 | 81 | E/D | 117 | None | 0.4389 | None | gnomAD-4.0.0 | 6.84367E-07 | |
22531 | 81 | E/V | 117 | None | 0.4389 | None | gnomAD-4.0.0 | 6.84363E-07 | |
22533 | 83 | T/I | 119 | rs2047233269 | 0.6024 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22535 | 85 | S/N | 121 | rs375676529 | 0.3339 | None | gnomAD-2.1.1 | 7.88E-05 | |
22535 | 85 | S/N | 121 | rs375676529 | 0.3339 | None | gnomAD-3.1.2 | 1.24969E-04 | |
22535 | 85 | S/N | 121 | rs375676529 | 0.3339 | None | gnomAD-4.0.0 | 1.20259E-04 | |
22535 | 85 | S/R | 121 | rs750847940 | 0.3339 | None | gnomAD-2.1.1 | 8.07E-06 | |
22535 | 85 | S/R | 121 | rs750847940 | 0.3339 | None | gnomAD-3.1.2 | 6.58E-06 | |
22535 | 85 | S/R | 121 | rs750847940 | 0.3339 | None | gnomAD-4.0.0 | 6.84406E-07 | |
22536 | 86 | E/K | 122 | rs371105318 | 0.4213 | None | gnomAD-2.1.1 | 2.15E-05 | |
22536 | 86 | E/K | 122 | rs371105318 | 0.4213 | None | gnomAD-3.1.2 | 5.92E-05 | |
22536 | 86 | E/K | 122 | rs371105318 | 0.4213 | None | gnomAD-4.0.0 | 3.78144E-05 | |
22537 | 87 | I/F | 123 | None | 0.2408 | None | gnomAD-4.0.0 | 6.84391E-07 | |
22537 | 87 | I/L | 123 | rs2047230730 | 0.2408 | None | gnomAD-4.0.0 | 2.05317E-06 | |
22537 | 87 | I/T | 123 | None | 0.2408 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22539 | 89 | V/A | 127 | rs1553622176 | 0.5796 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22539 | 89 | V/F | 127 | rs558955595 | 0.5796 | None | gnomAD-2.1.1 | 4.04E-06 | |
22539 | 89 | V/F | 127 | rs558955595 | 0.5796 | None | gnomAD-4.0.0 | 6.84421E-07 | |
22539 | 89 | V/I | 127 | rs558955595 | 0.5796 | None | gnomAD-2.1.1 | 2.87E-05 | |
22539 | 89 | V/I | 127 | rs558955595 | 0.5796 | None | gnomAD-3.1.2 | 7.89E-05 | |
22539 | 89 | V/I | 127 | rs558955595 | 0.5796 | None | 1000 genomes | 1.99681E-04 | |
22539 | 89 | V/I | 127 | rs558955595 | 0.5796 | None | gnomAD-4.0.0 | 1.54964E-05 | |
22540 | 90 | V/L | 129 | None | 1.0736 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22543 | 93 | D/N | 132 | rs1283302985 | 1.1594 | None | gnomAD-3.1.2 | 6.58E-06 | |
22543 | 93 | D/N | 132 | rs1283302985 | 1.1594 | None | gnomAD-4.0.0 | 6.5767E-06 |