10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
L | F | F | V | S | E | P | Q | S | I | R | V | V | E | K | T | T | A | T | F | I | A | K | V | G | G | D | P | I | P | N | V | K | W | T | K | G | K | W | R | Q | L | N | Q | G | G | R | V | F | I | H | Q | K | G | D | E | A | K | L | E | I | R | D | T | T | K | T | D | S | G | L | Y | R | C | V | A | F | N | E | H | G | E | I | E | S | N | V | N | L | Q | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
9698 | 1 | L/V | 1 | None | 0.3165 | None | gnomAD-4.0.0 | 3.18886E-06 | |
9701 | 4 | V/M | 4 | None | 0.4039 | None | gnomAD-4.0.0 | 1.36981E-06 | |
9704 | 7 | P/L | 8 | rs1344682490 | 0.1930 | None | gnomAD-3.1.2 | 6.57E-06 | |
9704 | 7 | P/L | 8 | rs1344682490 | 0.1930 | None | gnomAD-4.0.0 | 3.72096E-06 | |
9704 | 7 | P/S | 8 | rs1473433832 | 0.1930 | None | gnomAD-2.1.1 | 4.05E-06 | |
9704 | 7 | P/S | 8 | rs1473433832 | 0.1930 | None | gnomAD-4.0.0 | 1.36958E-06 | |
9705 | 8 | Q/R | 9 | None | 0.8390 | None | gnomAD-4.0.0 | 1.36967E-06 | |
9706 | 9 | S/N | 11 | None | 0.3865 | None | gnomAD-4.0.0 | 1.59501E-06 | |
9707 | 10 | I/N | 13 | rs1484487083 | 0.2083 | None | gnomAD-2.1.1 | 4.06E-06 | |
9707 | 10 | I/N | 13 | rs1484487083 | 0.2083 | None | gnomAD-4.0.0 | 6.84899E-07 | |
9707 | 10 | I/S | 13 | None | 0.2083 | None | gnomAD-4.0.0 | 6.84899E-07 | |
9707 | 10 | I/T | 13 | None | 0.2083 | None | gnomAD-4.0.0 | 6.84899E-07 | |
9708 | 11 | R/G | 14 | rs1274452311 | 0.4405 | None | gnomAD-4.0.0 | 3.42508E-06 | |
9708 | 11 | R/K | 14 | None | 0.4405 | None | gnomAD-4.0.0 | 6.84982E-07 | |
9708 | 11 | R/T | 14 | rs969965309 | 0.4405 | None | gnomAD-2.1.1 | 4.07E-06 | |
9708 | 11 | R/T | 14 | rs969965309 | 0.4405 | None | gnomAD-3.1.2 | 6.57E-06 | |
9708 | 11 | R/T | 14 | rs969965309 | 0.4405 | None | gnomAD-4.0.0 | 2.48124E-06 | |
9709 | 12 | V/I | 16 | rs369339313 | 0.1638 | None | gnomAD-2.1.1 | 1.08E-05 | |
9709 | 12 | V/I | 16 | rs369339313 | 0.1638 | None | gnomAD-3.1.2 | 2.63E-05 | |
9709 | 12 | V/I | 16 | rs369339313 | 0.1638 | None | gnomAD-4.0.0 | 1.55098E-05 | |
9709 | 12 | V/L | 16 | None | 0.1638 | None | gnomAD-4.0.0 | 6.85064E-07 | |
9710 | 13 | V/E | 18 | rs1196573815 | 0.5457 | None | gnomAD-3.1.2 | 1.31E-05 | |
9710 | 13 | V/E | 18 | rs1196573815 | 0.5457 | None | gnomAD-4.0.0 | 1.31385E-05 | |
9710 | 13 | V/I | 18 | rs72649002 | 0.5457 | None | gnomAD-2.1.1 | 1.51403E-03 | |
9710 | 13 | V/I | 18 | rs72649002 | 0.5457 | None | gnomAD-3.1.2 | 1.01852E-03 | |
9710 | 13 | V/I | 18 | rs72649002 | 0.5457 | None | 1000 genomes | 4.59265E-03 | |
9710 | 13 | V/I | 18 | rs72649002 | 0.5457 | None | gnomAD-4.0.0 | 5.45984E-04 | |
9710 | 13 | V/L | 18 | None | 0.5457 | None | gnomAD-4.0.0 | 6.85181E-07 | |
9711 | 14 | E/Q | 23 | rs2075957760 | 0.4159 | None | gnomAD-3.1.2 | 6.57E-06 | |
9711 | 14 | E/Q | 23 | rs2075957760 | 0.4159 | None | gnomAD-4.0.0 | 2.02989E-06 | |
9713 | 16 | T/A | 25 | rs763317642 | 0.3015 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9714 | 17 | T/A | 26 | None | 0.3681 | None | gnomAD-4.0.0 | 1.60692E-06 | |
9714 | 17 | T/P | 26 | None | 0.3681 | None | gnomAD-4.0.0 | 1.60692E-06 | |
9715 | 18 | A/E | 28 | None | 0.1332 | None | gnomAD-4.0.0 | 1.37373E-06 | |
9715 | 18 | A/G | 28 | rs533172128 | 0.1332 | None | gnomAD-2.1.1 | 4.06E-05 | |
9715 | 18 | A/G | 28 | rs533172128 | 0.1332 | None | gnomAD-3.1.2 | 1.32E-05 | |
9715 | 18 | A/G | 28 | rs533172128 | 0.1332 | None | gnomAD-4.0.0 | 2.86075E-05 | |
9715 | 18 | A/P | 28 | rs1359943299 | 0.1332 | None | gnomAD-2.1.1 | 4.06E-06 | |
9715 | 18 | A/P | 28 | rs1359943299 | 0.1332 | None | gnomAD-4.0.0 | 1.60532E-06 | |
9715 | 18 | A/T | 28 | None | 0.1332 | None | gnomAD-4.0.0 | 1.60532E-06 | |
9715 | 18 | A/V | 28 | rs533172128 | 0.1332 | None | gnomAD-2.1.1 | 2.44E-05 | |
9715 | 18 | A/V | 28 | rs533172128 | 0.1332 | None | gnomAD-3.1.2 | 6.58E-06 | |
9715 | 18 | A/V | 28 | rs533172128 | 0.1332 | None | gnomAD-4.0.0 | 9.32852E-06 | |
9716 | 19 | T/I | 29 | rs368642940 | 0.2915 | None | gnomAD-2.1.1 | 8.11E-06 | |
9716 | 19 | T/I | 29 | rs368642940 | 0.2915 | None | gnomAD-4.0.0 | 1.16751E-05 | |
9717 | 20 | F/S | 30 | None | 0.1079 | None | gnomAD-4.0.0 | 2.40065E-06 | |
9718 | 21 | I/F | 31 | None | 0.4176 | None | gnomAD-4.0.0 | 6.86504E-07 | |
9718 | 21 | I/S | 31 | rs4893852 | 0.4176 | None | gnomAD-2.1.1 | 1.21E-05 | |
9718 | 21 | I/S | 31 | rs4893852 | 0.4176 | None | gnomAD-3.1.2 | 3.29E-05 | |
9718 | 21 | I/S | 31 | rs4893852 | 0.4176 | None | gnomAD-4.0.0 | 2.05126E-05 | |
9718 | 21 | I/T | 31 | rs4893852 | 0.4176 | None | gnomAD-2.1.1 | 8.25144E-02 | |
9718 | 21 | I/T | 31 | rs4893852 | 0.4176 | None | gnomAD-3.1.2 | 9.38774E-02 | |
9718 | 21 | I/T | 31 | rs4893852 | 0.4176 | None | 1000 genomes | 1.27396E-01 | |
9718 | 21 | I/T | 31 | rs4893852 | 0.4176 | None | gnomAD-4.0.0 | 5.01499E-02 | |
9718 | 21 | I/V | 31 | rs748067330 | 0.4176 | None | gnomAD-2.1.1 | 1.21E-05 | |
9718 | 21 | I/V | 31 | rs748067330 | 0.4176 | None | gnomAD-4.0.0 | 2.74602E-06 | |
9719 | 22 | A/T | 33 | rs2075926309 | 0.1133 | None | gnomAD-4.0.0 | 2.05944E-06 | |
9720 | 23 | K/E | 34 | rs780071353 | 0.2316 | None | gnomAD-2.1.1 | 8.08E-06 | |
9720 | 23 | K/E | 34 | rs780071353 | 0.2316 | None | gnomAD-4.0.0 | 8.00869E-06 | |
9721 | 24 | V/F | 35 | None | 0.1527 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9722 | 25 | G/R | 38 | rs758659809 | 0.1503 | None | gnomAD-2.1.1 | 7.16E-06 | |
9722 | 25 | G/R | 38 | rs758659809 | 0.1503 | None | gnomAD-3.1.2 | 6.57E-06 | |
9722 | 25 | G/R | 38 | rs758659809 | 0.1503 | None | gnomAD-4.0.0 | 7.45356E-06 | |
9723 | 26 | G/D | 40 | rs1416686981 | 0.2443 | None | gnomAD-2.1.1 | 4.03E-06 | |
9723 | 26 | G/D | 40 | rs1416686981 | 0.2443 | None | gnomAD-4.0.0 | 1.5994E-06 | |
9724 | 27 | D/A | 41 | None | 0.8906 | None | gnomAD-4.0.0 | 1.59494E-06 | |
9724 | 27 | D/N | 41 | rs778955269 | 0.8906 | None | gnomAD-2.1.1 | 1.61E-05 | |
9724 | 27 | D/N | 41 | rs778955269 | 0.8906 | None | gnomAD-3.1.2 | 6.57E-06 | |
9724 | 27 | D/N | 41 | rs778955269 | 0.8906 | None | gnomAD-4.0.0 | 6.2033E-06 | |
9726 | 29 | I/T | 43 | None | 0.6315 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9726 | 29 | I/V | 43 | rs757364697 | 0.6315 | None | gnomAD-2.1.1 | 5E-05 | |
9726 | 29 | I/V | 43 | rs757364697 | 0.6315 | None | gnomAD-3.1.2 | 6.57E-06 | |
9726 | 29 | I/V | 43 | rs757364697 | 0.6315 | None | gnomAD-4.0.0 | 1.92384E-05 | |
9727 | 30 | P/L | 44 | None | 0.1434 | None | gnomAD-4.0.0 | 1.369E-06 | |
9727 | 30 | P/S | 44 | None | 0.1434 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9728 | 31 | N/D | 45 | rs794729400 | 0.5372 | None | gnomAD-2.1.1 | 1.43E-05 | |
9728 | 31 | N/D | 45 | rs794729400 | 0.5372 | None | gnomAD-3.1.2 | 3.94E-05 | |
9728 | 31 | N/D | 45 | rs794729400 | 0.5372 | None | gnomAD-4.0.0 | 1.61162E-05 | |
9728 | 31 | N/S | 45 | rs374981132 | 0.5372 | None | gnomAD-2.1.1 | 3.62E-05 | |
9728 | 31 | N/S | 45 | rs374981132 | 0.5372 | None | gnomAD-3.1.2 | 6.57E-06 | |
9728 | 31 | N/S | 45 | rs374981132 | 0.5372 | None | gnomAD-4.0.0 | 2.04544E-05 | |
9728 | 31 | N/Y | 45 | rs794729400 | 0.5372 | None | gnomAD-2.1.1 | 4.02E-06 | |
9728 | 31 | N/Y | 45 | rs794729400 | 0.5372 | None | gnomAD-4.0.0 | 6.84414E-07 | |
9729 | 32 | V/F | 46 | rs1060500451 | 0.2047 | None | gnomAD-3.1.2 | 6.57E-06 | |
9729 | 32 | V/F | 46 | rs1060500451 | 0.2047 | None | gnomAD-4.0.0 | 1.23966E-06 | |
9729 | 32 | V/I | 46 | rs1060500451 | 0.2047 | None | gnomAD-3.1.2 | 6.57E-06 | |
9729 | 32 | V/I | 46 | rs1060500451 | 0.2047 | None | gnomAD-4.0.0 | 1.17768E-05 | |
9731 | 34 | W/R | 48 | rs1226902114 | 0.1540 | None | gnomAD-2.1.1 | 8.03E-06 | |
9731 | 34 | W/R | 48 | rs1226902114 | 0.1540 | None | gnomAD-3.1.2 | 6.57E-06 | |
9731 | 34 | W/R | 48 | rs1226902114 | 0.1540 | None | gnomAD-4.0.0 | 3.18342E-06 | |
9734 | 37 | G/R | 51 | None | 0.3665 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9735 | 38 | K/N | 52 | rs760884958 | 0.9185 | None | gnomAD-2.1.1 | 4.01E-06 | |
9735 | 38 | K/N | 52 | rs760884958 | 0.9185 | None | gnomAD-4.0.0 | 6.84189E-07 | |
9736 | 39 | W/G | 53 | rs1229199576 | 1.0292 | None | gnomAD-2.1.1 | 4.01E-06 | |
9736 | 39 | W/G | 53 | rs1229199576 | 1.0292 | None | gnomAD-4.0.0 | 1.59121E-06 | |
9738 | 41 | Q/R | 56 | rs1370390355 | 0.4904 | None | gnomAD-2.1.1 | 4.01E-06 | |
9738 | 41 | Q/R | 56 | rs1370390355 | 0.4904 | None | gnomAD-4.0.0 | 1.59106E-06 | |
9739 | 42 | L/P | 58 | None | 0.2075 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9740 | 43 | N/K | 59 | rs371745586 | 0.7575 | None | gnomAD-2.1.1 | 4.01E-06 | |
9740 | 43 | N/K | 59 | rs371745586 | 0.7575 | None | gnomAD-3.1.2 | 1.31E-05 | |
9740 | 43 | N/K | 59 | rs371745586 | 0.7575 | None | gnomAD-4.0.0 | 2.05252E-06 | |
9740 | 43 | N/S | 59 | rs753121692 | 0.7575 | None | gnomAD-2.1.1 | 3.92E-05 | |
9740 | 43 | N/S | 59 | rs753121692 | 0.7575 | None | gnomAD-3.1.2 | 1.97E-05 | |
9740 | 43 | N/S | 59 | rs753121692 | 0.7575 | None | gnomAD-4.0.0 | 6.07259E-05 | |
9740 | 43 | N/T | 59 | None | 0.7575 | None | gnomAD-4.0.0 | 6.84175E-07 | |
9741 | 44 | Q/H | 70 | None | 0.7474 | None | gnomAD-4.0.0 | 1.59103E-06 | |
9741 | 44 | Q/K | 70 | rs773039731 | 0.7474 | None | gnomAD-2.1.1 | 2.14E-05 | |
9741 | 44 | Q/K | 70 | rs773039731 | 0.7474 | None | gnomAD-3.1.2 | 1.32E-05 | |
9741 | 44 | Q/K | 70 | rs773039731 | 0.7474 | None | gnomAD-4.0.0 | 8.96769E-06 | |
9742 | 45 | G/A | 73 | rs1461138247 | 0.4237 | None | gnomAD-4.0.0 | 1.59103E-06 | |
9742 | 45 | G/E | 73 | rs1461138247 | 0.4237 | None | gnomAD-2.1.1 | 7.13E-06 | |
9742 | 45 | G/E | 73 | rs1461138247 | 0.4237 | None | gnomAD-3.1.2 | 6.57E-06 | |
9742 | 45 | G/E | 73 | rs1461138247 | 0.4237 | None | gnomAD-4.0.0 | 2.5619E-06 | |
9743 | 46 | G/D | 109 | None | 0.6201 | None | gnomAD-4.0.0 | 3.18201E-06 | |
9743 | 46 | G/S | 109 | rs368073588 | 0.6201 | None | gnomAD-2.1.1 | 2.41E-05 | |
9743 | 46 | G/S | 109 | rs368073588 | 0.6201 | None | gnomAD-3.1.2 | 6.57E-06 | |
9743 | 46 | G/S | 109 | rs368073588 | 0.6201 | None | gnomAD-4.0.0 | 1.92092E-05 | |
9744 | 47 | R/C | 115 | rs375266859 | 0.2807 | None | gnomAD-2.1.1 | 5.35E-05 | |
9744 | 47 | R/C | 115 | rs375266859 | 0.2807 | None | gnomAD-3.1.2 | 5.26E-05 | |
9744 | 47 | R/C | 115 | rs375266859 | 0.2807 | None | gnomAD-4.0.0 | 4.27588E-05 | |
9744 | 47 | R/G | 115 | rs375266859 | 0.2807 | None | gnomAD-4.0.0 | 6.84162E-07 | |
9744 | 47 | R/H | 115 | rs760305440 | 0.2807 | None | gnomAD-2.1.1 | 1.78E-05 | |
9744 | 47 | R/H | 115 | rs760305440 | 0.2807 | None | gnomAD-3.1.2 | 5.26E-05 | |
9744 | 47 | R/H | 115 | rs760305440 | 0.2807 |
HCM |
Literature | None | |
9744 | 47 | R/H | 115 | rs760305440 | 0.2807 | None | gnomAD-4.0.0 | 5.26723E-05 | |
9745 | 48 | V/I | 121 | rs879159098 | 0.2268 | None | gnomAD-4.0.0 | 1.36833E-06 | |
9746 | 49 | F/S | 122 | None | 0.3519 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9748 | 51 | H/N | 125 | None | 0.5908 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9750 | 53 | K/N | 130 | None | 0.8143 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9751 | 54 | G/V | 131 | rs779884658 | 0.3635 | None | gnomAD-2.1.1 | 1.2E-05 | |
9751 | 54 | G/V | 131 | rs779884658 | 0.3635 | None | gnomAD-4.0.0 | 8.89413E-06 | |
9752 | 55 | D/E | 134 | None | 0.3720 | None | gnomAD-4.0.0 | 6.84157E-07 | |
9752 | 55 | D/N | 134 | rs1420103092 | 0.3720 | None | gnomAD-2.1.1 | 6.37E-05 | |
9752 | 55 | D/N | 134 | rs1420103092 | 0.3720 | None | gnomAD-3.1.2 | 3.29E-05 | |
9752 | 55 | D/N | 134 | rs1420103092 | 0.3720 | None | gnomAD-4.0.0 | 1.61111E-05 | |
9752 | 55 | D/Y | 134 | None | 0.3720 | None | gnomAD-4.0.0 | 6.84159E-07 | |
9753 | 56 | E/D | 135 | None | 0.3871 | None | gnomAD-4.0.0 | 1.59096E-06 | |
9755 | 58 | K/Q | 137 | None | 0.2909 | None | gnomAD-4.0.0 | 1.59098E-06 | |
9757 | 60 | E/Q | 139 | None | 0.2342 | None | gnomAD-4.0.0 | 1.59097E-06 | |
9758 | 61 | I/S | 140 | None | 0.1342 | None | gnomAD-4.0.0 | 2.05247E-06 | |
9758 | 61 | I/V | 140 | None | 0.1342 | None | gnomAD-4.0.0 | 1.59097E-06 | |
9760 | 63 | D/H | 143 | rs372537023 | 0.6238 | None | gnomAD-2.1.1 | 1.2E-05 | |
9760 | 63 | D/H | 143 | rs372537023 | 0.6238 | None | gnomAD-3.1.2 | 6.57E-06 | |
9760 | 63 | D/H | 143 | rs372537023 | 0.6238 | None | gnomAD-4.0.0 | 1.05344E-05 | |
9760 | 63 | D/N | 143 | rs372537023 | 0.6238 | None | gnomAD-2.1.1 | 8.02E-06 | |
9760 | 63 | D/N | 143 | rs372537023 | 0.6238 | None | gnomAD-4.0.0 | 8.20987E-06 | |
9760 | 63 | D/Y | 143 | None | 0.6238 | None | gnomAD-4.0.0 | 8.89402E-06 | |
9761 | 64 | T/A | 144 | rs757275707 | 0.0912 | None | gnomAD-2.1.1 | 4.01E-06 | |
9761 | 64 | T/A | 144 | rs757275707 | 0.0912 | None | gnomAD-4.0.0 | 1.59097E-06 | |
9761 | 64 | T/S | 144 | rs753921516 | 0.0912 | None | gnomAD-2.1.1 | 8.02E-06 | |
9761 | 64 | T/S | 144 | rs753921516 | 0.0912 | None | gnomAD-4.0.0 | 3.18199E-06 | |
9762 | 65 | T/I | 145 | rs1347223686 | 0.2676 | None | gnomAD-2.1.1 | 1.2E-05 | |
9762 | 65 | T/I | 145 | rs1347223686 | 0.2676 | None | gnomAD-4.0.0 | 2.73664E-06 | |
9762 | 65 | T/K | 145 | None | 0.2676 | None | gnomAD-4.0.0 | 1.36832E-06 | |
9762 | 65 | T/R | 145 | None | 0.2676 | None | gnomAD-4.0.0 | 6.84159E-07 | |
9763 | 66 | K/E | 146 | rs1414221406 | 0.8707 | None | gnomAD-4.0.0 | 1.59099E-06 | |
9763 | 66 | K/N | 146 | rs1301356747 | 0.8707 | None | gnomAD-2.1.1 | 4.01E-06 | |
9763 | 66 | K/N | 146 | rs1301356747 | 0.8707 | None | gnomAD-4.0.0 | 3.18214E-06 | |
9764 | 67 | T/I | 148 | None | 0.6655 | None | gnomAD-4.0.0 | 2.40064E-06 | |
9764 | 67 | T/S | 148 | None | 0.6655 | None | gnomAD-4.0.0 | 1.36834E-06 | |
9765 | 68 | D/G | 149 | None | 0.1755 | None | gnomAD-4.0.0 | 1.591E-06 | |
9766 | 69 | S/Y | 151 | rs879033462 | 0.2112 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9767 | 70 | G/R | 152 | None | 0.2276 | None | gnomAD-4.0.0 | 1.59098E-06 | |
9767 | 70 | G/V | 152 | rs2075906507 | 0.2276 | None | gnomAD-3.1.2 | 6.58E-06 | |
9767 | 70 | G/V | 152 | rs2075906507 | 0.2276 | None | gnomAD-4.0.0 | 6.57678E-06 | |
9768 | 71 | L/F | 153 | None | 0.4601 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9769 | 72 | Y/H | 154 | rs778087108 | 0.1254 | None | gnomAD-2.1.1 | 1.07E-05 | |
9769 | 72 | Y/H | 154 | rs778087108 | 0.1254 | None | gnomAD-3.1.2 | 6.57E-06 | |
9769 | 72 | Y/H | 154 | rs778087108 | 0.1254 | None | gnomAD-4.0.0 | 3.09822E-06 | |
9770 | 73 | R/L | 155 | None | 0.2930 | None | gnomAD-4.0.0 | 6.84163E-07 | |
9770 | 73 | R/Q | 155 | rs368309068 | 0.2930 | None | gnomAD-2.1.1 | 5.22E-05 | |
9770 | 73 | R/Q | 155 | rs368309068 | 0.2930 | None | gnomAD-3.1.2 | 6.57E-05 | |
9770 | 73 | R/Q | 155 | rs368309068 | 0.2930 | None | gnomAD-4.0.0 | 8.05513E-05 | |
9772 | 75 | V/A | 157 | None | 0.1747 | None | gnomAD-4.0.0 | 6.84163E-07 | |
9772 | 75 | V/E | 157 | rs1430077040 | 0.1747 | None | gnomAD-2.1.1 | 4.01E-06 | |
9772 | 75 | V/E | 157 | rs1430077040 | 0.1747 | None | gnomAD-4.0.0 | 6.84163E-07 | |
9772 | 75 | V/M | 157 | rs563073635 | 0.1747 | None | gnomAD-2.1.1 | 5.7E-05 | |
9772 | 75 | V/M | 157 | rs563073635 | 0.1747 | None | gnomAD-3.1.2 | 6.57E-05 | |
9772 | 75 | V/M | 157 | rs563073635 | 0.1747 | None | 1000 genomes | 3.99361E-04 | |
9772 | 75 | V/M | 157 | rs563073635 | 0.1747 | None | gnomAD-4.0.0 | 4.89506E-05 | |
9773 | 76 | A/S | 158 | None | 0.0900 | None | gnomAD-4.0.0 | 6.84166E-07 | |
9773 | 76 | A/T | 158 | rs371163094 | 0.0900 | None | gnomAD-2.1.1 | 8.55E-05 | |
9773 | 76 | A/T | 158 | rs371163094 | 0.0900 | None | gnomAD-3.1.2 | 8.55E-05 | |
9773 | 76 | A/T | 158 | rs371163094 | 0.0900 | None | gnomAD-4.0.0 | 3.01159E-04 | |
9773 | 76 | A/V | 158 | None | 0.0900 | None | gnomAD-4.0.0 | 2.73667E-06 | |
9774 | 77 | F/C | 159 | rs2075902617 | 0.2424 | None | gnomAD-3.1.2 | 6.58E-06 | |
9774 | 77 | F/C | 159 | rs2075902617 | 0.2424 | None | gnomAD-4.0.0 | 6.57575E-06 | |
9776 | 79 | E/D | 162 | None | 0.6198 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9776 | 79 | E/K | 162 | rs143477225 | 0.6198 | None | gnomAD-2.1.1 | 3.61E-05 | |
9776 | 79 | E/K | 162 | rs143477225 | 0.6198 | None | 1000 genomes | 1.99681E-04 | |
9776 | 79 | E/K | 162 | rs143477225 | 0.6198 | None | gnomAD-4.0.0 | 2.16879E-05 | |
9776 | 79 | E/Q | 162 | None | 0.6198 | None | gnomAD-4.0.0 | 6.84195E-07 | |
9777 | 80 | H/R | 163 | rs776520121 | 0.7168 | None | gnomAD-2.1.1 | 4.01E-06 | |
9777 | 80 | H/R | 163 | rs776520121 | 0.7168 | None | gnomAD-4.0.0 | 6.1577E-06 | |
9778 | 81 | G/A | 164 | rs775854531 | 0.3175 | None | gnomAD-2.1.1 | 2.81E-05 | |
9778 | 81 | G/A | 164 | rs775854531 | 0.3175 | None | gnomAD-4.0.0 | 4.78931E-06 | |
9778 | 81 | G/D | 164 | rs775854531 | 0.3175 | None | gnomAD-2.1.1 | 1.2E-05 | |
9778 | 81 | G/D | 164 | rs775854531 | 0.3175 | None | gnomAD-3.1.2 | 6.57E-06 | |
9778 | 81 | G/D | 164 | rs775854531 | 0.3175 | None | gnomAD-4.0.0 | 2.045E-05 | |
9778 | 81 | G/S | 164 | rs1181765627 | 0.3175 | None | gnomAD-2.1.1 | 4.01E-06 | |
9778 | 81 | G/S | 164 | rs1181765627 | 0.3175 | None | gnomAD-4.0.0 | 6.84173E-06 | |
9780 | 83 | I/F | 166 | rs916661752 | 0.1935 | None | gnomAD-4.0.0 | 3.18216E-06 | |
9780 | 83 | I/T | 166 | None | 0.1935 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9783 | 86 | N/I | 171 | rs1254488322 | 0.4349 | None | gnomAD-2.1.1 | 4.01E-06 | |
9783 | 86 | N/I | 171 | rs1254488322 | 0.4349 | None | gnomAD-4.0.0 | 1.36835E-06 | |
9783 | 86 | N/K | 171 | rs1183091830 | 0.4349 | None | gnomAD-3.1.2 | 6.57E-06 | |
9783 | 86 | N/K | 171 | rs1183091830 | 0.4349 | None | gnomAD-4.0.0 | 6.19684E-06 | |
9784 | 87 | V/I | 172 | rs2075899130 | 0.1084 | None | gnomAD-4.0.0 | 2.05255E-06 | |
9786 | 89 | L/F | 174 | rs2075898399 | 0.0970 | None | gnomAD-3.1.2 | 6.57E-06 | |
9786 | 89 | L/F | 174 | rs2075898399 | 0.0970 | None | gnomAD-4.0.0 | 6.57082E-06 | |
9787 | 90 | Q/R | 175 | None | 0.2766 | None | gnomAD-4.0.0 | 1.59115E-06 | |
9788 | 91 | V/G | 177 | rs776218040 | 0.1315 | None | gnomAD-2.1.1 | 4.02E-06 | |
9788 | 91 | V/G | 177 | rs776218040 | 0.1315 | None | gnomAD-3.1.2 | 6.58E-06 | |
9788 | 91 | V/G | 177 | rs776218040 | 0.1315 | None | gnomAD-4.0.0 | 2.5627E-06 | |
9788 | 91 | V/M | 177 | rs2075898063 | 0.1315 | None | gnomAD-4.0.0 | 1.59116E-06 |