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R | P | G | P | P | V | G | P | V | S | F | D | E | V | T | K | D | Y | M | V | I | S | W | K | P | P | L | D | D | G | G | S | K | I | T | N | Y | I | I | E | K | K | E | V | G | K | D | V | W | M | P | V | T | S | A | S | A | K | T | T | C | K | V | S | K | L | L | E | G | K | D | Y | I | F | R | I | H | A | E | N | L | Y | G | I | S | D | P | L | V | S | D | S | M | K | A | K | D | R | F | R | V | P | D | A | P | D | Q | P | I | V | T | E | V | T | K | D | S | A | L | V | T | W | N | K | P | H | D | G | G | K | P | I | T | N | Y | I | L | E | K | R | E | T | M | S | K | R | W | A | R | V | T | K | D | P | I | H | P | Y | T | K | F | R | V | P | D | L | L | E | G | C | Q | Y | E | F | R | V | S | A | E | N | E | I | G | I | G | D | P | S | P | P | S | K | P | V | F | A | K | D | P |
- | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | V | P | D | A | P | D | Q | P | I | V | T | E | V | T | K | D | S | A | L | V | T | W | N | K | P | H | D | G | G | K | P | I | T | N | Y | I | L | E | K | R | E | T | M | S | K | R | W | A | R | V | T | K | D | P | I | H | P | Y | T | K | F | R | V | P | D | L | L | E | G | C | Q | Y | E | F | R | V | S | A | E | N | E | I | G | I | G | D | P | S | P | P | S | K | P | V | F | A | K | D | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
19579 | 1 | V/D | 1 | None | 0.2979 | None | gnomAD-4.0.0 | 1.37633E-06 | |
19580 | 2 | P/L | 2 | None | 0.1078 | None | gnomAD-4.0.0 | 1.60459E-06 | |
19581 | 3 | D/E | 3 | None | 0.5179 | None | gnomAD-4.0.0 | 1.37237E-06 | |
19581 | 3 | D/N | 3 | None | 0.5179 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19581 | 3 | D/V | 3 | rs1421309086 | 0.5179 | None | gnomAD-4.0.0 | 1.60233E-06 | |
19582 | 4 | A/T | 4 | None | 0.3223 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19583 | 5 | P/A | 5 | rs758600822 | 0.1400 | None | gnomAD-2.1.1 | 1.8E-05 | |
19583 | 5 | P/A | 5 | rs758600822 | 0.1400 | None | gnomAD-3.1.2 | 3.95E-05 | |
19583 | 5 | P/A | 5 | rs758600822 | 0.1400 | None | gnomAD-4.0.0 | 2.17282E-05 | |
19583 | 5 | P/L | 5 | rs1206288937 | 0.1400 | None | gnomAD-2.1.1 | 4.06E-06 | |
19583 | 5 | P/L | 5 | rs1206288937 | 0.1400 | None | gnomAD-4.0.0 | 1.59847E-06 | |
19583 | 5 | P/R | 5 | rs1206288937 | 0.1400 | None | gnomAD-2.1.1 | 3.19E-05 | |
19583 | 5 | P/R | 5 | rs1206288937 | 0.1400 | None | gnomAD-3.1.2 | 6.58E-06 | |
19583 | 5 | P/R | 5 | rs1206288937 | 0.1400 | None | gnomAD-4.0.0 | 2.57196E-06 | |
19584 | 6 | D/H | 6 | rs765734391 | 0.6920 | None | gnomAD-4.0.0 | 1.59858E-06 | |
19584 | 6 | D/Y | 6 | rs765734391 | 0.6920 | None | gnomAD-2.1.1 | 8.13E-06 | |
19584 | 6 | D/Y | 6 | rs765734391 | 0.6920 | None | gnomAD-4.0.0 | 3.19718E-06 | |
19585 | 7 | Q/E | 7 | None | 0.4464 | None | gnomAD-4.0.0 | 3.60097E-06 | |
19586 | 8 | P/S | 9 | None | 0.1458 | None | gnomAD-4.0.0 | 2.40064E-06 | |
19587 | 9 | I/V | 11 | rs916546048 | 0.7232 | None | gnomAD-4.0.0 | 1.36952E-06 | |
19588 | 10 | V/G | 12 | rs762211011 | 0.2285 | None | gnomAD-2.1.1 | 4.04E-06 | |
19588 | 10 | V/G | 12 | rs762211011 | 0.2285 | None | gnomAD-4.0.0 | 1.59383E-06 | |
19588 | 10 | V/I | 12 | rs2050676034 | 0.2285 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19589 | 11 | T/K | 13 | None | 0.3913 | None | gnomAD-4.0.0 | 1.36923E-05 | |
19589 | 11 | T/R | 13 | None | 0.3913 | None | gnomAD-4.0.0 | 6.84614E-07 | |
19590 | 12 | E/A | 14 | rs2050672836 | 0.4572 | None | gnomAD-4.0.0 | 1.59332E-06 | |
19590 | 12 | E/Q | 14 | None | 0.4572 | None | gnomAD-4.0.0 | 1.59333E-06 | |
19591 | 13 | V/I | 15 | rs776808469 | 0.2343 | None | gnomAD-2.1.1 | 4.43E-05 | |
19591 | 13 | V/I | 15 | rs776808469 | 0.2343 | None | gnomAD-3.1.2 | 6.58E-06 | |
19591 | 13 | V/I | 15 | rs776808469 | 0.2343 | None | gnomAD-4.0.0 | 2.54215E-05 | |
19592 | 14 | T/A | 16 | rs769094173 | 0.2007 | None | gnomAD-2.1.1 | 8.06E-06 | |
19592 | 14 | T/A | 16 | rs769094173 | 0.2007 | None | gnomAD-4.0.0 | 1.02683E-05 | |
19592 | 14 | T/I | 16 | rs745441183 | 0.2007 | None | gnomAD-2.1.1 | 4.03E-06 | |
19592 | 14 | T/I | 16 | rs745441183 | 0.2007 | None | gnomAD-4.0.0 | 6.84572E-07 | |
19592 | 14 | T/N | 16 | rs745441183 | 0.2007 | None | gnomAD-4.0.0 | 3.42286E-06 | |
19593 | 15 | K/E | 17 | rs1465047978 | 0.3586 | None | gnomAD-4.0.0 | 3.42245E-06 | |
19593 | 15 | K/N | 17 | None | 0.3586 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19594 | 16 | D/G | 18 | None | 0.4150 | None | gnomAD-4.0.0 | 1.5927E-06 | |
19594 | 16 | D/N | 18 | rs2050669783 | 0.4150 | None | gnomAD-3.1.2 | 6.58E-06 | |
19594 | 16 | D/N | 18 | rs2050669783 | 0.4150 | None | gnomAD-4.0.0 | 6.57601E-06 | |
19595 | 17 | S/F | 19 | rs1354326243 | 0.1239 | None | gnomAD-2.1.1 | 3.19E-05 | |
19595 | 17 | S/F | 19 | rs1354326243 | 0.1239 | None | gnomAD-3.1.2 | 6.57E-06 | |
19595 | 17 | S/F | 19 | rs1354326243 | 0.1239 | None | gnomAD-4.0.0 | 5.12789E-06 | |
19597 | 19 | L/S | 21 | rs777654240 | 0.1869 | None | gnomAD-2.1.1 | 4.02E-06 | |
19597 | 19 | L/S | 21 | rs777654240 | 0.1869 | None | gnomAD-4.0.0 | 1.59238E-06 | |
19597 | 19 | L/V | 21 | rs201013593 | 0.1869 | None | gnomAD-2.1.1 | 5.63E-05 | |
19597 | 19 | L/V | 21 | rs201013593 | 0.1869 | None | gnomAD-4.0.0 | 1.1635E-05 | |
19598 | 20 | V/I | 22 | rs1375428423 | 0.0829 | None | gnomAD-4.0.0 | 1.59235E-06 | |
19598 | 20 | V/L | 22 | rs1375428423 | 0.0829 | None | gnomAD-3.1.2 | 1.97E-05 | |
19598 | 20 | V/L | 22 | rs1375428423 | 0.0829 | None | gnomAD-4.0.0 | 6.40953E-06 | |
19599 | 21 | T/I | 23 | rs367816473 | 0.2912 | None | gnomAD-2.1.1 | 4.29E-05 | |
19599 | 21 | T/I | 23 | rs367816473 | 0.2912 | None | gnomAD-3.1.2 | 1.71012E-04 | |
19599 | 21 | T/I | 23 | rs367816473 | 0.2912 | None | gnomAD-4.0.0 | 2.78956E-05 | |
19600 | 22 | W/C | 24 | rs2050664676 | 0.1295 | None | gnomAD-4.0.0 | 2.73762E-06 | |
19601 | 23 | N/S | 25 | None | 0.7095 | None | gnomAD-4.0.0 | 1.59227E-06 | |
19602 | 24 | K/T | 26 | None | 0.6133 | None | gnomAD-4.0.0 | 1.59228E-06 | |
19604 | 26 | H/R | 29 | rs754807338 | 0.5953 | None | gnomAD-2.1.1 | 1.21E-05 | |
19604 | 26 | H/R | 29 | rs754807338 | 0.5953 | None | gnomAD-4.0.0 | 1.43301E-05 | |
19604 | 26 | H/Y | 29 | rs780811337 | 0.5953 | None | gnomAD-2.1.1 | 4.02E-06 | |
19604 | 26 | H/Y | 29 | rs780811337 | 0.5953 | None | gnomAD-4.0.0 | 1.59225E-06 | |
19605 | 27 | D/G | 30 | None | 0.2591 | None | gnomAD-4.0.0 | 1.59223E-06 | |
19605 | 27 | D/N | 30 | rs374833667 | 0.2591 | None | gnomAD-2.1.1 | 1.61E-05 | |
19605 | 27 | D/N | 30 | rs374833667 | 0.2591 | None | gnomAD-3.1.2 | 1.97E-05 | |
19605 | 27 | D/N | 30 | rs374833667 | 0.2591 | None | gnomAD-4.0.0 | 2.72742E-05 | |
19606 | 28 | G/R | 31 | rs1432502770 | 0.1360 | None | gnomAD-2.1.1 | 3.19E-05 | |
19606 | 28 | G/R | 31 | rs1432502770 | 0.1360 | None | gnomAD-3.1.2 | 6.58E-06 | |
19606 | 28 | G/R | 31 | rs1432502770 | 0.1360 | None | gnomAD-4.0.0 | 3.84581E-06 | |
19607 | 29 | G/R | 32 | rs758551992 | 0.2492 | None | gnomAD-2.1.1 | 1.61E-05 | |
19607 | 29 | G/R | 32 | rs758551992 | 0.2492 | None | gnomAD-3.1.2 | 6.58E-06 | |
19607 | 29 | G/R | 32 | rs758551992 | 0.2492 | None | gnomAD-4.0.0 | 7.69146E-06 | |
19610 | 32 | I/M | 35 | None | 0.1133 | None | gnomAD-4.0.0 | 1.59212E-06 | |
19611 | 33 | T/K | 36 | None | 0.3033 | None | gnomAD-4.0.0 | 1.20034E-06 | |
19612 | 34 | N/I | 37 | None | 0.1893 | None | gnomAD-4.0.0 | 1.5921E-06 | |
19614 | 36 | I/T | 39 | rs199933004 | 0.2046 | None | gnomAD-2.1.1 | 8.04E-05 | |
19614 | 36 | I/T | 39 | rs199933004 | 0.2046 | None | gnomAD-3.1.2 | 4.61E-05 | |
19614 | 36 | I/T | 39 | rs199933004 | 0.2046 | None | gnomAD-4.0.0 | 4.52525E-05 | |
19616 | 38 | E/K | 41 | None | 0.1498 | None | gnomAD-4.0.0 | 3.60098E-06 | |
19617 | 39 | K/M | 42 | rs777196126 | 0.1856 | None | gnomAD-2.1.1 | 8.04E-06 | |
19617 | 39 | K/M | 42 | rs777196126 | 0.1856 | None | gnomAD-4.0.0 | 4.77626E-06 | |
19617 | 39 | K/R | 42 | rs777196126 | 0.1856 | None | gnomAD-3.1.2 | 6.58E-06 | |
19617 | 39 | K/R | 42 | rs777196126 | 0.1856 | None | gnomAD-4.0.0 | 6.40897E-06 | |
19618 | 40 | R/K | 43 | None | 0.2067 | None | gnomAD-4.0.0 | 1.36874E-06 | |
19618 | 40 | R/T | 43 | None | 0.2067 | None | gnomAD-4.0.0 | 1.36874E-06 | |
19619 | 41 | E/D | 44 | rs368026488 | 0.3837 | None | gnomAD-2.1.1 | 4.28E-05 | |
19619 | 41 | E/D | 44 | rs368026488 | 0.3837 | None | gnomAD-3.1.2 | 8.55E-05 | |
19619 | 41 | E/D | 44 | rs368026488 | 0.3837 | None | gnomAD-4.0.0 | 1.3637E-05 | |
19619 | 41 | E/Q | 44 | rs2050656359 | 0.3837 | None | gnomAD-4.0.0 | 1.44039E-05 | |
19620 | 42 | T/A | 50 | rs1215190215 | 0.2745 | None | gnomAD-2.1.1 | 8.04E-06 | |
19620 | 42 | T/A | 50 | rs1215190215 | 0.2745 | None | gnomAD-3.1.2 | 1.32E-05 | |
19620 | 42 | T/A | 50 | rs1215190215 | 0.2745 | None | gnomAD-4.0.0 | 3.71926E-06 | |
19620 | 42 | T/P | 50 | None | 0.2745 | None | gnomAD-4.0.0 | 1.36873E-06 | |
19620 | 42 | T/S | 50 | None | 0.2745 | None | gnomAD-4.0.0 | 3.18425E-06 | |
19621 | 43 | M/T | 54 | None | 0.8363 | None | gnomAD-4.0.0 | 3.60097E-06 | |
19621 | 43 | M/V | 54 | None | 0.8363 | None | gnomAD-4.0.0 | 1.59208E-06 | |
19622 | 44 | S/F | 60 | None | 0.2517 | None | gnomAD-4.0.0 | 6.84368E-07 | |
19622 | 44 | S/Y | 60 | rs144576333 | 0.2517 | None | 1000 genomes | 1.99681E-04 | |
19622 | 44 | S/Y | 60 | rs144576333 | 0.2517 | None | gnomAD-4.0.0 | 6.84368E-07 | |
19624 | 46 | R/L | 64 | None | 0.8177 | None | gnomAD-4.0.0 | 6.84365E-07 | |
19624 | 46 | R/P | 64 | None | 0.8177 | None | gnomAD-4.0.0 | 6.84365E-07 | |
19624 | 46 | R/Q | 64 | rs1224706842 | 0.8177 | None | gnomAD-2.1.1 | 4.02E-06 | |
19624 | 46 | R/Q | 64 | rs1224706842 | 0.8177 | None | gnomAD-4.0.0 | 6.15929E-06 | |
19625 | 47 | W/R | 65 | rs1396400309 | 0.2290 | None | gnomAD-2.1.1 | 3.19E-05 | |
19625 | 47 | W/R | 65 | rs1396400309 | 0.2290 | None | gnomAD-3.1.2 | 1.97E-05 | |
19625 | 47 | W/R | 65 | rs1396400309 | 0.2290 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19626 | 48 | A/T | 66 | rs371278320 | 0.3261 | None | gnomAD-2.1.1 | 1.21E-05 | |
19626 | 48 | A/T | 66 | rs371278320 | 0.3261 | None | gnomAD-3.1.2 | 2.63E-05 | |
19626 | 48 | A/T | 66 | rs371278320 | 0.3261 | None | gnomAD-4.0.0 | 3.34718E-05 | |
19626 | 48 | A/V | 66 | None | 0.3261 | None | gnomAD-4.0.0 | 1.59203E-06 | |
19627 | 49 | R/G | 67 | rs1416921994 | 0.5715 | None | gnomAD-2.1.1 | 4.02E-06 | |
19627 | 49 | R/G | 67 | rs1416921994 | 0.5715 | None | gnomAD-4.0.0 | 1.59201E-06 | |
19627 | 49 | R/S | 67 | rs748773320 | 0.5715 | None | gnomAD-2.1.1 | 4.02E-06 | |
19628 | 50 | V/A | 68 | None | 0.1885 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19628 | 50 | V/I | 68 | rs772550095 | 0.1885 | None | gnomAD-2.1.1 | 1.61E-05 | |
19628 | 50 | V/I | 68 | rs772550095 | 0.1885 | None | gnomAD-4.0.0 | 6.15913E-06 | |
19629 | 51 | T/A | 69 | None | 0.2644 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19629 | 51 | T/S | 69 | rs1417896313 | 0.2644 | None | gnomAD-2.1.1 | 4.02E-06 | |
19629 | 51 | T/S | 69 | rs1417896313 | 0.2644 | None | gnomAD-4.0.0 | 1.3687E-06 | |
19630 | 52 | K/R | 70 | None | 1.0327 | None | gnomAD-4.0.0 | 1.59197E-06 | |
19630 | 52 | K/T | 70 | rs534551882 | 1.0327 | None | gnomAD-2.1.1 | 4.02E-06 | |
19630 | 52 | K/T | 70 | rs534551882 | 1.0327 | None | gnomAD-3.1.2 | 6.58E-06 | |
19630 | 52 | K/T | 70 | rs534551882 | 1.0327 | None | 1000 genomes | 1.99681E-04 | |
19630 | 52 | K/T | 70 | rs534551882 | 1.0327 | None | gnomAD-4.0.0 | 6.57376E-06 | |
19631 | 53 | D/H | 75 | None | 0.7496 | None | gnomAD-4.0.0 | 1.36872E-06 | |
19631 | 53 | D/Y | 75 | rs565837633 | 0.7496 | None | gnomAD-2.1.1 | 1.21E-05 | |
19631 | 53 | D/Y | 75 | rs565837633 | 0.7496 | None | gnomAD-3.1.2 | 1.32E-05 | |
19631 | 53 | D/Y | 75 | rs565837633 | 0.7496 | None | 1000 genomes | 1.99681E-04 | |
19631 | 53 | D/Y | 75 | rs565837633 | 0.7496 | None | gnomAD-4.0.0 | 4.33893E-06 | |
19633 | 55 | I/L | 77 | None | 0.0919 | None | gnomAD-4.0.0 | 2.40065E-06 | |
19633 | 55 | I/N | 77 | None | 0.0919 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19633 | 55 | I/T | 77 | None | 0.0919 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19634 | 56 | H/Q | 82 | rs397517639 | 0.3453 | None | gnomAD-2.1.1 | 4.02E-06 | |
19634 | 56 | H/Q | 82 | rs397517639 | 0.3453 | None | gnomAD-4.0.0 | 1.59196E-06 | |
19635 | 57 | P/R | 83 | None | 0.4214 | None | gnomAD-4.0.0 | 1.59202E-06 | |
19636 | 58 | Y/C | 88 | None | 0.6707 | None | gnomAD-4.0.0 | 1.592E-06 | |
19636 | 58 | Y/H | 88 | None | 0.6707 | None | gnomAD-4.0.0 | 1.20034E-06 | |
19637 | 59 | T/A | 89 | rs780393880 | 0.2564 | None | gnomAD-2.1.1 | 4.02E-06 | |
19637 | 59 | T/S | 89 | rs780393880 | 0.2564 | None | gnomAD-2.1.1 | 2.81E-05 | |
19637 | 59 | T/S | 89 | rs780393880 | 0.2564 | None | gnomAD-4.0.0 | 1.20034E-06 | |
19638 | 60 | K/I | 90 | rs1257692385 | 0.6187 | None | gnomAD-2.1.1 | 4.02E-06 | |
19638 | 60 | K/I | 90 | rs1257692385 | 0.6187 | None | gnomAD-4.0.0 | 1.59197E-06 | |
19640 | 62 | R/G | 92 | rs758745272 | 0.3350 | None | gnomAD-2.1.1 | 1.07E-05 | |
19640 | 62 | R/G | 92 | rs758745272 | 0.3350 | None | gnomAD-3.1.2 | 1.32E-05 | |
19640 | 62 | R/G | 92 | rs758745272 | 0.3350 | None | gnomAD-4.0.0 | 8.97192E-06 | |
19641 | 63 | V/A | 93 | None | 0.0816 | None | gnomAD-4.0.0 | 1.20036E-06 | |
19643 | 65 | D/G | 96 | rs2050641106 | 0.7538 | None | gnomAD-3.1.2 | 6.58E-06 | |
19643 | 65 | D/G | 96 | rs2050641106 | 0.7538 | None | gnomAD-4.0.0 | 6.57696E-06 | |
19643 | 65 | D/H | 96 | rs794729464 | 0.7538 | None | gnomAD-2.1.1 | 8.05E-06 | |
19643 | 65 | D/H | 96 | rs794729464 | 0.7538 | None | gnomAD-4.0.0 | 3.18394E-06 | |
19644 | 66 | L/I | 97 | rs1173341921 | 0.1047 | None | gnomAD-4.0.0 | 3.18397E-06 | |
19644 | 66 | L/P | 97 | rs750702045 | 0.1047 | None | gnomAD-2.1.1 | 4.02E-06 | |
19644 | 66 | L/P | 97 | rs750702045 | 0.1047 | None | gnomAD-4.0.0 | 2.05305E-06 | |
19644 | 66 | L/R | 97 | rs750702045 | 0.1047 | None | gnomAD-4.0.0 | 6.84349E-07 | |
19645 | 67 | L/I | 98 | None | 0.6945 | None | gnomAD-4.0.0 | 6.84357E-07 | |
19646 | 68 | E/Q | 99 | None | 0.5761 | None | gnomAD-4.0.0 | 1.59197E-06 | |
19647 | 69 | G/E | 100 | rs1559611400 | 0.3924 | None | gnomAD-2.1.1 | 4.02E-06 | |
19647 | 69 | G/E | 100 | rs1559611400 | 0.3924 | None | gnomAD-4.0.0 | 2.05306E-06 | |
19647 | 69 | G/R | 100 | rs201430346 | 0.3924 | None | gnomAD-2.1.1 | 2.86E-05 | |
19647 | 69 | G/R | 100 | rs201430346 | 0.3924 | None | gnomAD-3.1.2 | 3.29E-05 | |
19647 | 69 | G/R | 100 | rs201430346 | 0.3924 | None | gnomAD-4.0.0 | 4.27709E-05 | |
19648 | 70 | C/R | 102 | rs375814269 | 0.1826 | None | gnomAD-2.1.1 | 4.02E-06 | |
19648 | 70 | C/R | 102 | rs375814269 | 0.1826 | None | gnomAD-4.0.0 | 1.59197E-06 | |
19648 | 70 | C/W | 102 | rs764728016 | 0.1826 | None | gnomAD-2.1.1 | 2.01E-05 | |
19648 | 70 | C/W | 102 | rs764728016 | 0.1826 | None | gnomAD-4.0.0 | 7.9597E-06 | |
19648 | 70 | C/Y | 102 | rs2050636382 | 0.1826 | None | gnomAD-4.0.0 | 1.20041E-06 | |
19649 | 71 | Q/H | 103 | rs886038922 | 0.2082 | None | gnomAD-3.1.2 | 6.58E-06 | |
19649 | 71 | Q/H | 103 | rs886038922 | 0.2082 | None | gnomAD-4.0.0 | 4.95879E-06 | |
19651 | 73 | E/K | 105 | rs1442747427 | 0.1533 | None | gnomAD-4.0.0 | 3.18392E-06 | |
19653 | 75 | R/Q | 107 | rs1398360418 | 0.1505 | None | gnomAD-2.1.1 | 8.05E-06 | |
19653 | 75 | R/Q | 107 | rs1398360418 | 0.1505 | None | gnomAD-3.1.2 | 6.58E-06 | |
19653 | 75 | R/Q | 107 | rs1398360418 | 0.1505 | None | gnomAD-4.0.0 | 7.69136E-06 | |
19653 | 75 | R/W | 107 | rs149325705 | 0.1505 | None | gnomAD-2.1.1 | 2.42E-05 | |
19653 | 75 | R/W | 107 | rs149325705 | 0.1505 | None | gnomAD-3.1.2 | 1.32E-05 | |
19653 | 75 | R/W | 107 | rs149325705 | 0.1505 | None | 1000 genomes | 1.99681E-04 | |
19653 | 75 | R/W | 107 | rs149325705 | 0.1505 | None | gnomAD-4.0.0 | 1.36363E-05 | |
19654 | 76 | V/I | 108 | None | 0.0802 | None | gnomAD-4.0.0 | 3.18396E-06 | |
19655 | 77 | S/P | 109 | None | 0.1311 | None | gnomAD-4.0.0 | 1.20033E-06 | |
19656 | 78 | A/T | 110 | None | 0.0971 | None | gnomAD-4.0.0 | 6.84362E-07 | |
19657 | 79 | E/D | 111 | rs200728232 | 0.2548 | None | gnomAD-2.1.1 | 5.72E-05 | |
19657 | 79 | E/D | 111 | rs200728232 | 0.2548 | None | gnomAD-3.1.2 | 1.51184E-04 | |
19657 | 79 | E/D | 111 | rs200728232 | 0.2548 | None | gnomAD-4.0.0 | 2.91313E-05 | |
19657 | 79 | E/K | 111 | None | 0.2548 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19658 | 80 | N/S | 112 | rs767889522 | 0.0788 | None | gnomAD-2.1.1 | 1.21E-05 | |
19658 | 80 | N/S | 112 | rs767889522 | 0.0788 | None | gnomAD-3.1.2 | 6.57E-06 | |
19658 | 80 | N/S | 112 | rs767889522 | 0.0788 | None | gnomAD-4.0.0 | 9.91725E-06 | |
19659 | 81 | E/D | 113 | None | 0.6072 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19659 | 81 | E/K | 113 | rs2050629562 | 0.6072 | None | gnomAD-3.1.2 | 6.57E-06 | |
19659 | 81 | E/K | 113 | rs2050629562 | 0.6072 | None | gnomAD-4.0.0 | 7.10514E-06 | |
19659 | 81 | E/Q | 113 | None | 0.6072 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19660 | 82 | I/M | 114 | rs762554922 | 0.3144 | None | gnomAD-2.1.1 | 4.03E-06 | |
19660 | 82 | I/M | 114 | rs762554922 | 0.3144 | None | gnomAD-3.1.2 | 3.29E-05 | |
19660 | 82 | I/M | 114 | rs762554922 | 0.3144 | None | gnomAD-4.0.0 | 1.42106E-05 | |
19660 | 82 | I/T | 114 | rs759613472 | 0.3144 | None | gnomAD-4.0.0 | 1.59203E-06 | |
19661 | 83 | G/D | 115 | rs397517640 | 0.1758 | None | gnomAD-2.1.1 | 2.86E-05 | |
19661 | 83 | G/D | 115 | rs397517640 | 0.1758 | None | gnomAD-3.1.2 | 3.95E-05 | |
19661 | 83 | G/D | 115 | rs397517640 | 0.1758 | None | gnomAD-4.0.0 | 1.85957E-05 | |
19661 | 83 | G/S | 115 | None | 0.1758 | None | gnomAD-4.0.0 | 3.18415E-06 | |
19662 | 84 | I/T | 117 | None | 0.4320 | None | gnomAD-4.0.0 | 1.20033E-06 | |
19662 | 84 | I/V | 117 | rs886055259 | 0.4320 | None | gnomAD-3.1.2 | 6.57E-06 | |
19662 | 84 | I/V | 117 | rs886055259 | 0.4320 | None | gnomAD-4.0.0 | 1.79432E-05 | |
19663 | 85 | G/E | 118 | None | 0.1548 | None | gnomAD-4.0.0 | 1.20034E-06 | |
19664 | 86 | D/E | 119 | rs769129424 | 0.8567 | None | gnomAD-2.1.1 | 2.15E-05 | |
19664 | 86 | D/E | 119 | rs769129424 | 0.8567 | None | gnomAD-3.1.2 | 1.97E-05 | |
19664 | 86 | D/E | 119 | rs769129424 | 0.8567 | None | gnomAD-4.0.0 | 2.2934E-05 | |
19664 | 86 | D/N | 119 | rs921886474 | 0.8567 | None | gnomAD-4.0.0 | 6.84362E-07 | |
19666 | 88 | S/G | 121 | rs776432732 | 0.0976 | None | gnomAD-2.1.1 | 4.03E-06 | |
19666 | 88 | S/R | 121 | rs776432732 | 0.0976 | None | gnomAD-2.1.1 | 4.03E-06 | |
19666 | 88 | S/T | 121 | None | 0.0976 | None | gnomAD-4.0.0 | 1.59211E-06 | |
19668 | 90 | P/L | 123 | rs794729465 | 0.3377 | None | gnomAD-2.1.1 | 4.03E-06 | |
19668 | 90 | P/L | 123 | rs794729465 | 0.3377 | None | gnomAD-3.1.2 | 6.58E-06 | |
19668 | 90 | P/L | 123 | rs794729465 | 0.3377 | None | gnomAD-4.0.0 | 2.23151E-05 | |
19668 | 90 | P/Q | 123 | rs794729465 | 0.3377 | None | gnomAD-4.0.0 | 2.73751E-06 | |
19668 | 90 | P/S | 123 | None | 0.3377 | None | gnomAD-4.0.0 | 1.36875E-06 | |
19669 | 91 | S/P | 124 | None | 0.1197 | None | gnomAD-4.0.0 | 1.5921E-06 | |
19670 | 92 | K/N | 125 | rs2050621372 | 0.9153 | None | gnomAD-4.0.0 | 1.59217E-06 | |
19671 | 93 | P/A | 126 | rs1426333344 | 0.4020 | None | gnomAD-4.0.0 | 6.84381E-07 | |
19671 | 93 | P/S | 126 | rs1426333344 | 0.4020 | None | gnomAD-2.1.1 | 7.15E-06 | |
19671 | 93 | P/S | 126 | rs1426333344 | 0.4020 | None | gnomAD-3.1.2 | 6.58E-06 | |
19671 | 93 | P/S | 126 | rs1426333344 | 0.4020 | None | gnomAD-4.0.0 | 1.23974E-06 | |
19672 | 94 | V/A | 127 | rs1263299073 | 0.2191 | None | gnomAD-2.1.1 | 4.03E-06 | |
19672 | 94 | V/A | 127 | rs1263299073 | 0.2191 | None | gnomAD-4.0.0 | 1.59233E-06 | |
19672 | 94 | V/D | 127 | None | 0.2191 | None | gnomAD-4.0.0 | 1.59233E-06 | |
19674 | 96 | A/D | 130 | rs746781472 | 0.0756 | None | gnomAD-2.1.1 | 4.03E-06 | |
19674 | 96 | A/D | 130 | rs746781472 | 0.0756 | None | gnomAD-4.0.0 | 1.59241E-06 | |
19676 | 98 | D/E | 132 | None | 0.4660 | None | gnomAD-4.0.0 | 1.20035E-06 | |
19676 | 98 | D/Y | 132 | rs186215280 | 0.4660 | None | gnomAD-2.1.1 | 5.24E-05 | |
19676 | 98 | D/Y | 132 | rs186215280 | 0.4660 | None | gnomAD-3.1.2 | 2.03795E-04 | |
19676 | 98 | D/Y | 132 | rs186215280 | 0.4660 | None | 1000 genomes | 1.99681E-04 | |
19676 | 98 | D/Y | 132 | rs186215280 | 0.4660 | None | gnomAD-4.0.0 | 6.28081E-05 |