10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | 100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | P | D | P | P | I | K | L | K | I | G | L | I | T | K | N | T | V | H | L | S | W | K | P | P | K | N | D | G | G | S | P | V | T | H | Y | I | V | E | C | L | A | W | D | P | T | G | T | K | K | E | A | W | R | Q | C | N | K | R | D | V | E | E | L | Q | F | T | V | E | D | L | V | E | G | G | E | Y | E | F | R | V | K | A | V | N | A | A | G | V | S | K | P | S | A | T | V | G | P | V | T | V | K | D |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
18579 | 1 | P/S | 1 | rs912809911 | 0.5029 | None | gnomAD-2.1.1 | 5.59E-06 | |
18579 | 1 | P/S | 1 | rs912809911 | 0.5029 | None | gnomAD-4.0.0 | 7.28409E-07 | |
18579 | 1 | P/T | 1 | rs912809911 | 0.5029 | None | gnomAD-2.1.1 | 5.59E-06 | |
18579 | 1 | P/T | 1 | rs912809911 | 0.5029 | None | gnomAD-3.1.2 | 6.58E-06 | |
18579 | 1 | P/T | 1 | rs912809911 | 0.5029 | None | gnomAD-4.0.0 | 1.96747E-06 | |
18580 | 2 | P/S | 2 | rs528329600 | 0.1072 | None | gnomAD-2.1.1 | 7.18E-05 | |
18580 | 2 | P/S | 2 | rs528329600 | 0.1072 | None | gnomAD-3.1.2 | 1.32E-05 | |
18580 | 2 | P/S | 2 | rs528329600 | 0.1072 | None | 1000 genomes | 1.99681E-04 | |
18580 | 2 | P/S | 2 | rs528329600 | 0.1072 | None | gnomAD-4.0.0 | 6.87109E-05 | |
18582 | 4 | P/L | 4 | rs201194435 | 0.2468 | None | gnomAD-2.1.1 | 8.93E-05 | |
18582 | 4 | P/L | 4 | rs201194435 | 0.2468 | None | gnomAD-3.1.2 | 9.21E-05 | |
18582 | 4 | P/L | 4 | rs201194435 | 0.2468 | None | gnomAD-4.0.0 | 6.67409E-05 | |
18582 | 4 | P/S | 4 | rs1213775355 | 0.2468 | None | gnomAD-2.1.1 | 3.19E-05 | |
18582 | 4 | P/S | 4 | rs1213775355 | 0.2468 | None | gnomAD-3.1.2 | 6.58E-06 | |
18582 | 4 | P/S | 4 | rs1213775355 | 0.2468 | None | gnomAD-4.0.0 | 6.57947E-06 | |
18583 | 5 | P/L | 5 | rs1559684715 | 0.1217 | None | gnomAD-4.0.0 | 1.84121E-06 | |
18584 | 6 | I/V | 6 | rs760979964 | 0.2609 | None | gnomAD-2.1.1 | 5.29E-06 | |
18584 | 6 | I/V | 6 | rs760979964 | 0.2609 | None | gnomAD-4.0.0 | 5.03976E-06 | |
18586 | 8 | L/F | 9 | rs773983711 | 0.1717 | None | gnomAD-2.1.1 | 5.25E-06 | |
18586 | 8 | L/F | 9 | rs773983711 | 0.1717 | None | gnomAD-4.0.0 | 7.18266E-07 | |
18586 | 8 | L/I | 9 | None | 0.1717 | None | gnomAD-4.0.0 | 1.43653E-06 | |
18588 | 10 | I/M | 12 | None | 0.3244 | None | gnomAD-4.0.0 | 7.14823E-07 | |
18590 | 12 | L/I | 14 | None | 0.7335 | None | gnomAD-4.0.0 | 3.51893E-06 | |
18591 | 13 | I/V | 15 | rs890362775 | 0.2044 | None | gnomAD-2.1.1 | 9.81E-06 | |
18592 | 14 | T/A | 16 | None | 0.2272 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18593 | 15 | K/E | 17 | None | 0.5416 | None | gnomAD-4.0.0 | 1.71549E-06 | |
18594 | 16 | N/H | 18 | None | 0.4302 | None | gnomAD-4.0.0 | 1.70542E-06 | |
18595 | 17 | T/P | 19 | None | 0.2146 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18595 | 17 | T/R | 19 | rs770499179 | 0.2146 | None | gnomAD-2.1.1 | 4.49E-05 | |
18595 | 17 | T/R | 19 | rs770499179 | 0.2146 | None | gnomAD-3.1.2 | 5.92E-05 | |
18595 | 17 | T/R | 19 | rs770499179 | 0.2146 | None | gnomAD-4.0.0 | 1.9058E-05 | |
18596 | 18 | V/L | 20 | rs777489999 | 0.0958 | None | gnomAD-2.1.1 | 4.54E-06 | |
18596 | 18 | V/L | 20 | rs777489999 | 0.0958 | None | gnomAD-4.0.0 | 1.67899E-06 | |
18596 | 18 | V/M | 20 | rs777489999 | 0.0958 | None | gnomAD-2.1.1 | 4.54E-06 | |
18596 | 18 | V/M | 20 | rs777489999 | 0.0958 | None | gnomAD-4.0.0 | 1.67899E-06 | |
18597 | 19 | H/P | 21 | None | 0.5075 | None | gnomAD-2.1.1 | 4.41E-06 | |
18597 | 19 | H/P | 21 | None | 0.5075 | None | gnomAD-4.0.0 | 1.65553E-06 | |
18597 | 19 | H/Q | 21 | None | 0.5075 | None | gnomAD-4.0.0 | 6.94644E-07 | |
18597 | 19 | H/R | 21 | rs748143013 | 0.5075 | None | gnomAD-2.1.1 | 8.82E-06 | |
18597 | 19 | H/R | 21 | rs748143013 | 0.5075 | None | gnomAD-4.0.0 | 3.31106E-06 | |
18597 | 19 | H/Y | 21 | rs1285092776 | 0.5075 | None | gnomAD-2.1.1 | 4.41E-06 | |
18597 | 19 | H/Y | 21 | rs1285092776 | 0.5075 | None | gnomAD-4.0.0 | 4.96806E-06 | |
18602 | 24 | P/H | 26 | rs559554374 | 0.4015 | None | gnomAD-2.1.1 | 8.41E-06 | |
18602 | 24 | P/H | 26 | rs559554374 | 0.4015 | None | gnomAD-3.1.2 | 6.58E-06 | |
18602 | 24 | P/H | 26 | rs559554374 | 0.4015 | None | 1000 genomes | 1.99681E-04 | |
18602 | 24 | P/H | 26 | rs559554374 | 0.4015 | None | gnomAD-4.0.0 | 2.60146E-06 | |
18602 | 24 | P/S | 26 | rs781300931 | 0.4015 | None | gnomAD-3.1.2 | 1.97E-05 | |
18602 | 24 | P/S | 26 | rs781300931 | 0.4015 | None | gnomAD-4.0.0 | 5.61931E-06 | |
18602 | 24 | P/T | 26 | rs781300931 | 0.4015 | None | gnomAD-2.1.1 | 8.42E-06 | |
18602 | 24 | P/T | 26 | rs781300931 | 0.4015 | None | gnomAD-3.1.2 | 6.58E-06 | |
18602 | 24 | P/T | 26 | rs781300931 | 0.4015 | None | gnomAD-4.0.0 | 1.8731E-06 | |
18603 | 25 | P/L | 27 | rs531760043 | 0.1624 | None | gnomAD-2.1.1 | 2.09E-05 | |
18603 | 25 | P/L | 27 | rs531760043 | 0.1624 | None | gnomAD-4.0.0 | 9.64776E-06 | |
18603 | 25 | P/S | 27 | None | 0.1624 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18605 | 27 | N/T | 29 | None | 0.5406 | None | gnomAD-4.0.0 | 1.61138E-06 | |
18606 | 28 | D/N | 30 | None | 0.2824 | None | gnomAD-4.0.0 | 2.40065E-06 | |
18606 | 28 | D/V | 30 | None | 0.2824 | None | gnomAD-4.0.0 | 1.20033E-06 | |
18609 | 31 | S/F | 33 | None | 0.2521 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18609 | 31 | S/Y | 33 | None | 0.2521 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18610 | 32 | P/S | 34 | rs1053494929 | 0.6604 | None | gnomAD-2.1.1 | 4.08E-06 | |
18610 | 32 | P/S | 34 | rs1053494929 | 0.6604 | None | gnomAD-3.1.2 | 6.58E-06 | |
18610 | 32 | P/S | 34 | rs1053494929 | 0.6604 | None | gnomAD-4.0.0 | 1.86341E-06 | |
18611 | 33 | V/L | 35 | None | 0.2276 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18612 | 34 | T/I | 36 | None | 0.3899 | None | gnomAD-4.0.0 | 1.37032E-06 | |
18612 | 34 | T/N | 36 | rs765352575 | 0.3899 | None | gnomAD-2.1.1 | 4.06E-06 | |
18612 | 34 | T/N | 36 | rs765352575 | 0.3899 | None | gnomAD-4.0.0 | 1.37032E-06 | |
18613 | 35 | H/D | 37 | None | 0.2286 | None | gnomAD-4.0.0 | 1.59674E-06 | |
18613 | 35 | H/P | 37 | None | 0.2286 | None | gnomAD-4.0.0 | 1.59553E-06 | |
18614 | 36 | Y/C | 38 | None | 0.1187 | None | gnomAD-4.0.0 | 1.59422E-06 | |
18615 | 37 | I/S | 39 | rs1474944420 | 0.2442 | None | gnomAD-2.1.1 | 4.04E-06 | |
18615 | 37 | I/S | 39 | rs1474944420 | 0.2442 | None | gnomAD-4.0.0 | 3.42349E-06 | |
18616 | 38 | V/A | 40 | rs2053304882 | 0.0867 | None | gnomAD-4.0.0 | 1.5935E-06 | |
18617 | 39 | E/D | 41 | rs878854316 | 0.1426 | None | gnomAD-2.1.1 | 4.04E-06 | |
18617 | 39 | E/D | 41 | rs878854316 | 0.1426 | None | gnomAD-4.0.0 | 2.0537E-06 | |
18617 | 39 | E/G | 41 | None | 0.1426 | None | gnomAD-4.0.0 | 3.60097E-06 | |
18617 | 39 | E/V | 41 | None | 0.1426 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18618 | 40 | C/F | 42 | None | 0.1294 | None | gnomAD-4.0.0 | 1.59314E-06 | |
18618 | 40 | C/G | 42 | None | 0.1294 | None | gnomAD-4.0.0 | 2.73822E-06 | |
18618 | 40 | C/R | 42 | rs369260968 | 0.1294 | None | gnomAD-2.1.1 | 6.45E-05 | |
18618 | 40 | C/R | 42 | rs369260968 | 0.1294 | None | gnomAD-3.1.2 | 1.90913E-04 | |
18618 | 40 | C/R | 42 | rs369260968 | 0.1294 | None | gnomAD-4.0.0 | 3.2244E-05 | |
18619 | 41 | L/P | 43 | rs1375513422 | 0.0844 | None | gnomAD-3.1.2 | 6.58E-06 | |
18619 | 41 | L/P | 43 | rs1375513422 | 0.0844 | None | gnomAD-4.0.0 | 6.58077E-06 | |
18620 | 42 | A/G | 44 | rs549301447 | 0.2006 | None | gnomAD-2.1.1 | 8.07E-06 | |
18620 | 42 | A/G | 44 | rs549301447 | 0.2006 | None | gnomAD-4.0.0 | 3.42264E-06 | |
18620 | 42 | A/V | 44 | rs549301447 | 0.2006 | None | gnomAD-3.1.2 | 6.58E-06 | |
18620 | 42 | A/V | 44 | rs549301447 | 0.2006 | None | 1000 genomes | 1.99681E-04 | |
18620 | 42 | A/V | 44 | rs549301447 | 0.2006 | None | gnomAD-4.0.0 | 1.85999E-06 | |
18621 | 43 | W/R | 45 | rs969457022 | 0.3417 | None | gnomAD-2.1.1 | 4.04E-06 | |
18621 | 43 | W/R | 45 | rs969457022 | 0.3417 | None | gnomAD-4.0.0 | 3.1859E-06 | |
18622 | 44 | D/G | 46 | None | 0.2285 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18622 | 44 | D/N | 46 | rs377683368 | 0.2285 | None | gnomAD-3.1.2 | 6.58E-06 | |
18622 | 44 | D/N | 46 | rs377683368 | 0.2285 | None | gnomAD-4.0.0 | 2.03039E-06 | |
18623 | 45 | P/R | 47 | rs764593028 | 0.8397 | None | gnomAD-2.1.1 | 8.07E-06 | |
18623 | 45 | P/R | 47 | rs764593028 | 0.8397 | None | gnomAD-3.1.2 | 1.32E-05 | |
18623 | 45 | P/R | 47 | rs764593028 | 0.8397 | None | gnomAD-4.0.0 | 5.5801E-06 | |
18623 | 45 | P/S | 47 | rs754308357 | 0.8397 | None | gnomAD-2.1.1 | 4.04E-06 | |
18623 | 45 | P/S | 47 | rs754308357 | 0.8397 | None | gnomAD-4.0.0 | 1.59287E-06 | |
18624 | 46 | T/A | 48 | rs775771274 | 0.5068 | None | gnomAD-2.1.1 | 4.03E-06 | |
18624 | 46 | T/A | 48 | rs775771274 | 0.5068 | None | gnomAD-4.0.0 | 2.05349E-06 | |
18624 | 46 | T/P | 48 | None | 0.5068 | None | gnomAD-4.0.0 | 1.36899E-06 | |
18626 | 48 | T/P | 50 | rs762549682 | 0.6028 | None | gnomAD-2.1.1 | 8.07E-06 | |
18626 | 48 | T/P | 50 | rs762549682 | 0.6028 | None | gnomAD-3.1.2 | 6.58E-06 | |
18626 | 48 | T/P | 50 | rs762549682 | 0.6028 | None | gnomAD-4.0.0 | 2.56465E-06 | |
18626 | 48 | T/S | 50 | None | 0.6028 | None | gnomAD-4.0.0 | 1.59276E-06 | |
18627 | 49 | K/T | 54 | rs727503597 | 0.8077 | None | gnomAD-3.1.2 | 6.58E-06 | |
18627 | 49 | K/T | 54 | rs727503597 | 0.8077 | None | gnomAD-4.0.0 | 1.42123E-05 | |
18628 | 50 | K/E | 62 | rs781398210 | 0.3819 | None | gnomAD-2.1.1 | 1.21E-05 | |
18628 | 50 | K/E | 62 | rs781398210 | 0.3819 | None | gnomAD-4.0.0 | 2.46413E-05 | |
18628 | 50 | K/R | 62 | rs747690782 | 0.3819 | None | gnomAD-2.1.1 | 1.61E-05 | |
18628 | 50 | K/R | 62 | rs747690782 | 0.3819 | None | gnomAD-4.0.0 | 4.79132E-06 | |
18628 | 50 | K/T | 62 | None | 0.3819 | None | gnomAD-4.0.0 | 6.84475E-07 | |
18630 | 52 | A/V | 64 | None | 0.6266 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18631 | 53 | W/C | 65 | None | 0.2713 | None | gnomAD-4.0.0 | 1.59261E-06 | |
18632 | 54 | R/S | 66 | rs563589789 | 0.7803 | None | gnomAD-2.1.1 | 4.03E-06 | |
18632 | 54 | R/S | 66 | rs563589789 | 0.7803 | None | gnomAD-3.1.2 | 2.63E-05 | |
18632 | 54 | R/S | 66 | rs563589789 | 0.7803 | None | 1000 genomes | 1.99681E-04 | |
18632 | 54 | R/S | 66 | rs563589789 | 0.7803 | None | gnomAD-4.0.0 | 2.6304E-05 | |
18632 | 54 | R/T | 66 | None | 0.7803 | None | gnomAD-4.0.0 | 2.73784E-06 | |
18633 | 55 | Q/H | 67 | None | 0.3831 | None | gnomAD-4.0.0 | 6.84467E-07 | |
18634 | 56 | C/R | 68 | rs2154192588 | 0.1833 | None | gnomAD-4.0.0 | 3.18529E-06 | |
18635 | 57 | N/K | 69 | None | 0.1438 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18635 | 57 | N/S | 69 | None | 0.1438 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18637 | 59 | R/C | 72 | rs374151130 | 0.8897 | None | gnomAD-2.1.1 | 4.03E-06 | |
18637 | 59 | R/C | 72 | rs374151130 | 0.8897 | None | gnomAD-3.1.2 | 6.58E-06 | |
18637 | 59 | R/C | 72 | rs374151130 | 0.8897 | None | gnomAD-4.0.0 | 5.14614E-05 | |
18637 | 59 | R/H | 72 | rs758627195 | 0.8897 | None | gnomAD-2.1.1 | 1.61E-05 | |
18637 | 59 | R/H | 72 | rs758627195 | 0.8897 | None | gnomAD-3.1.2 | 1.97E-05 | |
18637 | 59 | R/H | 72 | rs758627195 | 0.8897 | None | gnomAD-4.0.0 | 1.79789E-05 | |
18637 | 59 | R/L | 72 | rs758627195 | 0.8897 | None | gnomAD-4.0.0 | 6.84463E-07 | |
18637 | 59 | R/S | 72 | rs374151130 | 0.8897 | None | gnomAD-2.1.1 | 3.23E-05 | |
18637 | 59 | R/S | 72 | rs374151130 | 0.8897 | None | gnomAD-3.1.2 | 6.58E-06 | |
18637 | 59 | R/S | 72 | rs374151130 | 0.8897 | None | gnomAD-4.0.0 | 1.48804E-05 | |
18638 | 60 | D/A | 75 | rs746044045 | 0.6359 | None | gnomAD-2.1.1 | 4.03E-06 | |
18638 | 60 | D/A | 75 | rs746044045 | 0.6359 | None | gnomAD-4.0.0 | 6.8448E-07 | |
18638 | 60 | D/G | 75 | None | 0.6359 | None | gnomAD-4.0.0 | 6.8448E-07 | |
18639 | 61 | V/A | 77 | rs368701590 | 0.1172 | None | gnomAD-2.1.1 | 4.03E-06 | |
18639 | 61 | V/A | 77 | rs368701590 | 0.1172 | None | gnomAD-3.1.2 | 6.58E-06 | |
18639 | 61 | V/A | 77 | rs368701590 | 0.1172 | None | gnomAD-4.0.0 | 3.84667E-06 | |
18639 | 61 | V/M | 77 | rs727503596 | 0.1172 | None | gnomAD-2.1.1 | 8.06E-06 | |
18639 | 61 | V/M | 77 | rs727503596 | 0.1172 | None | gnomAD-3.1.2 | 3.95E-05 | |
18639 | 61 | V/M | 77 | rs727503596 | 0.1172 | None | gnomAD-4.0.0 | 6.81981E-06 | |
18641 | 63 | E/K | 88 | None | 0.6736 | None | gnomAD-4.0.0 | 6.84482E-07 | |
18642 | 64 | L/Q | 89 | rs140714512 | 0.2542 | None | gnomAD-2.1.1 | 4.83133E-04 | |
18642 | 64 | L/Q | 89 | rs140714512 | 0.2542 | None | gnomAD-3.1.2 | 4.67228E-04 | |
18642 | 64 | L/Q | 89 | rs140714512 | 0.2542 | None | 1000 genomes | 1.99681E-04 | |
18642 | 64 | L/Q | 89 | rs140714512 | 0.2542 | None | gnomAD-4.0.0 | 3.50269E-04 | |
18644 | 66 | F/L | 91 | rs2154192554 | 0.1952 | None | gnomAD-3.1.2 | 6.58E-06 | |
18644 | 66 | F/L | 91 | rs2154192554 | 0.1952 | None | gnomAD-4.0.0 | 6.578E-06 | |
18644 | 66 | F/Y | 91 | rs879101964 | 0.1952 | None | gnomAD-2.1.1 | 3.19E-05 | |
18644 | 66 | F/Y | 91 | rs879101964 | 0.1952 | None | gnomAD-3.1.2 | 6.58E-06 | |
18644 | 66 | F/Y | 91 | rs879101964 | 0.1952 | None | gnomAD-4.0.0 | 2.56481E-06 | |
18646 | 68 | V/A | 93 | rs2053262199 | 0.1183 | None | gnomAD-4.0.0 | 3.4224E-06 | |
18647 | 69 | E/G | 94 | rs2053260795 | 0.5966 | None | gnomAD-3.1.2 | 6.58E-06 | |
18647 | 69 | E/G | 94 | rs2053260795 | 0.5966 | None | gnomAD-4.0.0 | 2.47995E-06 | |
18650 | 72 | V/A | 98 | rs1459999072 | 0.6243 | None | gnomAD-3.1.2 | 6.58E-06 | |
18650 | 72 | V/A | 98 | rs1459999072 | 0.6243 | None | gnomAD-4.0.0 | 1.24003E-06 | |
18650 | 72 | V/E | 98 | rs1459999072 | 0.6243 | None | gnomAD-4.0.0 | 6.84505E-07 | |
18651 | 73 | E/G | 99 | rs876658067 | 0.5003 | None | gnomAD-2.1.1 | 4.03E-06 | |
18651 | 73 | E/G | 99 | rs876658067 | 0.5003 | None | gnomAD-4.0.0 | 8.214E-06 | |
18651 | 73 | E/K | 99 | None | 0.5003 | None | gnomAD-4.0.0 | 1.59289E-06 | |
18652 | 74 | G/D | 100 | rs1368338710 | 0.4151 | None | gnomAD-2.1.1 | 4.03E-06 | |
18652 | 74 | G/D | 100 | rs1368338710 | 0.4151 | None | gnomAD-4.0.0 | 3.18586E-06 | |
18653 | 75 | G/R | 102 | rs367780800 | 0.1608 | None | gnomAD-2.1.1 | 8.06E-06 | |
18653 | 75 | G/R | 102 | rs367780800 | 0.1608 | None | gnomAD-4.0.0 | 1.5929E-06 | |
18654 | 76 | E/D | 103 | rs2053252489 | 0.3730 | None | gnomAD-3.1.2 | 6.58E-06 | |
18654 | 76 | E/D | 103 | rs2053252489 | 0.3730 | None | gnomAD-4.0.0 | 6.57869E-06 | |
18654 | 76 | E/K | 103 | rs879244493 | 0.3730 | None | gnomAD-3.1.2 | 6.58E-06 | |
18654 | 76 | E/K | 103 | rs879244493 | 0.3730 | None | gnomAD-4.0.0 | 6.57981E-06 | |
18654 | 76 | E/V | 103 | None | 0.3730 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18655 | 77 | Y/C | 104 | rs1391393842 | 0.1486 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18656 | 78 | E/G | 105 | None | 0.1147 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18657 | 79 | F/S | 106 | rs1309684601 | 0.1005 | None | gnomAD-2.1.1 | 4.03E-06 | |
18657 | 79 | F/S | 106 | rs1309684601 | 0.1005 | None | gnomAD-4.0.0 | 1.59296E-06 | |
18658 | 80 | R/Q | 107 | rs370888932 | 0.1228 | None | gnomAD-2.1.1 | 5.01E-05 | |
18658 | 80 | R/Q | 107 | rs370888932 | 0.1228 | None | gnomAD-3.1.2 | 5.26E-05 | |
18658 | 80 | R/Q | 107 | rs370888932 | 0.1228 | None | 1000 genomes | 3.99361E-04 | |
18658 | 80 | R/Q | 107 | rs370888932 | 0.1228 | None | gnomAD-4.0.0 | 3.71866E-05 | |
18659 | 81 | V/I | 108 | None | 0.0786 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18660 | 82 | K/N | 109 | rs776347511 | 0.1922 | None | gnomAD-4.0.0 | 6.84524E-07 | |
18661 | 83 | A/V | 110 | rs370732855 | 0.0757 | None | gnomAD-2.1.1 | 7.15E-06 | |
18661 | 83 | A/V | 110 | rs370732855 | 0.0757 | None | gnomAD-3.1.2 | 6.58E-06 | |
18661 | 83 | A/V | 110 | rs370732855 | 0.0757 | None | gnomAD-4.0.0 | 2.56494E-06 | |
18662 | 84 | V/L | 111 | rs746969341 | 0.1380 | None | gnomAD-3.1.2 | 6.58E-06 | |
18662 | 84 | V/L | 111 | rs746969341 | 0.1380 | None | gnomAD-4.0.0 | 2.56482E-06 | |
18663 | 85 | N/H | 112 | rs1425177371 | 0.1179 | None | gnomAD-2.1.1 | 4.02E-06 | |
18663 | 85 | N/H | 112 | rs1425177371 | 0.1179 | None | gnomAD-4.0.0 | 1.59298E-06 | |
18663 | 85 | N/S | 112 | rs368350844 | 0.1179 | None | gnomAD-2.1.1 | 2.86E-05 | |
18663 | 85 | N/S | 112 | rs368350844 | 0.1179 | None | gnomAD-3.1.2 | 3.29E-05 | |
18663 | 85 | N/S | 112 | rs368350844 | 0.1179 | None | gnomAD-4.0.0 | 5.26996E-05 | |
18665 | 87 | A/V | 114 | None | 0.4682 | None | gnomAD-4.0.0 | 6.84532E-07 | |
18666 | 88 | G/E | 115 | rs757529178 | 0.1951 | None | gnomAD-2.1.1 | 4.02E-06 | |
18666 | 88 | G/R | 115 | rs779053249 | 0.1951 | None | gnomAD-2.1.1 | 4.02E-06 | |
18666 | 88 | G/R | 115 | rs779053249 | 0.1951 | None | gnomAD-4.0.0 | 2.73814E-06 | |
18668 | 90 | S/R | 118 | None | 0.0992 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18669 | 91 | K/E | 119 | rs749362468 | 0.8560 | None | gnomAD-2.1.1 | 4.02E-06 | |
18669 | 91 | K/E | 119 | rs749362468 | 0.8560 | None | gnomAD-4.0.0 | 1.36911E-06 | |
18669 | 91 | K/N | 119 | None | 0.8560 | None | gnomAD-4.0.0 | 1.59328E-06 | |
18670 | 92 | P/S | 120 | rs777752824 | 0.3324 | None | gnomAD-2.1.1 | 4.02E-06 | |
18670 | 92 | P/S | 120 | rs777752824 | 0.3324 | None | gnomAD-3.1.2 | 6.58E-06 | |
18670 | 92 | P/S | 120 | rs777752824 | 0.3324 | None | gnomAD-4.0.0 | 5.07557E-06 | |
18672 | 94 | A/S | 122 | None | 0.6339 | None | gnomAD-4.0.0 | 1.59331E-06 | |
18674 | 96 | V/I | 124 | None | 0.1777 | None | gnomAD-4.0.0 | 2.05385E-06 | |
18674 | 96 | V/L | 124 | rs753094651 | 0.1777 | None | gnomAD-2.1.1 | 4.02E-06 | |
18675 | 97 | G/C | 125 | rs1478453765 | 0.3835 | None | gnomAD-2.1.1 | 6.38E-05 | |
18675 | 97 | G/C | 125 | rs1478453765 | 0.3835 | None | gnomAD-3.1.2 | 2.63E-05 | |
18675 | 97 | G/C | 125 | rs1478453765 | 0.3835 | None | gnomAD-4.0.0 | 2.63186E-05 | |
18677 | 99 | V/M | 127 | rs2053234064 | 0.2087 | None | gnomAD-4.0.0 | 1.59354E-06 | |
18678 | 100 | T/I | 129 | None | 0.3544 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18678 | 100 | T/N | 129 | rs2053232530 | 0.3544 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18679 | 101 | V/I | 130 | None | 0.0696 | None | gnomAD-4.0.0 | 1.56042E-05 | |
18680 | 102 | K/E | 131 | None | 0.5216 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18681 | 103 | D/Y | 132 | None | 0.6325 | None | gnomAD-4.0.0 | 1.59355E-06 |