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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
27676 | 1 | E/K | 1 | rs1424922146 | 0.5717 | None | gnomAD-3.1.2 | 6.57E-06 | |
27676 | 1 | E/K | 1 | rs1424922146 | 0.5717 | None | gnomAD-4.0.0 | 6.57307E-06 | |
27676 | 1 | E/Q | 1 | rs1424922146 | 0.5717 | None | gnomAD-4.0.0 | 3.60097E-06 | |
27676 | 1 | E/V | 1 | rs1282696852 | 0.5717 | None | gnomAD-3.1.2 | 6.58E-06 | |
27676 | 1 | E/V | 1 | rs1282696852 | 0.5717 | None | gnomAD-4.0.0 | 6.57523E-06 | |
27677 | 2 | L/I | 2 | rs1704290061 | 0.2604 | None | gnomAD-3.1.2 | 6.57E-06 | |
27677 | 2 | L/I | 2 | rs1704290061 | 0.2604 | None | gnomAD-4.0.0 | 6.57393E-06 | |
27678 | 3 | D/N | 3 | rs781128731 | 0.7752 | None | gnomAD-2.1.1 | 3.62E-05 | |
27678 | 3 | D/N | 3 | rs781128731 | 0.7752 | None | gnomAD-4.0.0 | 1.36846E-05 | |
27679 | 4 | A/T | 4 | rs1704286522 | 0.4669 | None | gnomAD-4.0.0 | 1.59137E-06 | |
27680 | 5 | D/A | 5 | None | 0.7865 | None | gnomAD-4.0.0 | 1.59136E-06 | |
27680 | 5 | D/E | 5 | rs754885118 | 0.7865 | None | gnomAD-2.1.1 | 7.85E-05 | |
27680 | 5 | D/E | 5 | rs754885118 | 0.7865 | None | gnomAD-3.1.2 | 1.31E-05 | |
27680 | 5 | D/E | 5 | rs754885118 | 0.7865 | None | gnomAD-4.0.0 | 6.81694E-06 | |
27680 | 5 | D/G | 5 | rs1431056112 | 0.7865 | None | gnomAD-2.1.1 | 4.02E-06 | |
27680 | 5 | D/G | 5 | rs1431056112 | 0.7865 | None | gnomAD-4.0.0 | 6.36543E-06 | |
27683 | 8 | K/R | 9 | rs1198736450 | 0.6493 | None | gnomAD-2.1.1 | 4.02E-06 | |
27683 | 8 | K/R | 9 | rs1198736450 | 0.6493 | None | gnomAD-4.0.0 | 1.59135E-06 | |
27684 | 9 | V/G | 11 | None | 0.4214 | None | gnomAD-4.0.0 | 3.60097E-06 | |
27684 | 9 | V/L | 11 | rs779966248 | 0.4214 | None | gnomAD-2.1.1 | 4.02E-06 | |
27686 | 11 | V/I | 14 | rs56309296 | 0.4064 | None | gnomAD-2.1.1 | 5.99809E-03 | |
27686 | 11 | V/I | 14 | rs56309296 | 0.4064 | None | gnomAD-3.1.2 | 1.80159E-02 | |
27686 | 11 | V/I | 14 | rs56309296 | 0.4064 | None | 1000 genomes | 1.61741E-02 | |
27686 | 11 | V/I | 14 | rs56309296 | 0.4064 | None | gnomAD-4.0.0 | 3.41703E-03 | |
27687 | 12 | L/V | 16 | None | 0.2410 | None | gnomAD-4.0.0 | 6.84239E-07 | |
27688 | 13 | R/C | 18 | rs757441189 | 0.7889 | None | gnomAD-2.1.1 | 4.02E-06 | |
27688 | 13 | R/C | 18 | rs757441189 | 0.7889 | None | gnomAD-3.1.2 | 1.32E-05 | |
27688 | 13 | R/C | 18 | rs757441189 | 0.7889 | None | gnomAD-4.0.0 | 4.77432E-06 | |
27688 | 13 | R/H | 18 | rs185002960 | 0.7889 | None | gnomAD-2.1.1 | 3.72487E-03 | |
27688 | 13 | R/H | 18 | rs185002960 | 0.7889 | None | gnomAD-3.1.2 | 3.05147E-03 | |
27688 | 13 | R/H | 18 | rs185002960 | 0.7889 | None | 1000 genomes | 1.39776E-03 | |
27688 | 13 | R/H | 18 | rs185002960 | 0.7889 | None | gnomAD-4.0.0 | 1.95397E-03 | |
27688 | 13 | R/L | 18 | None | 0.7889 | None | gnomAD-4.0.0 | 6.84244E-07 | |
27688 | 13 | R/P | 18 | rs185002960 | 0.7889 | None | gnomAD-2.1.1 | 4.02E-06 | |
27688 | 13 | R/P | 18 | rs185002960 | 0.7889 | None | gnomAD-3.1.2 | 2.63E-05 | |
27688 | 13 | R/P | 18 | rs185002960 | 0.7889 | None | gnomAD-4.0.0 | 4.33802E-06 | |
27689 | 14 | A/S | 23 | rs761181487 | 0.3803 | None | gnomAD-3.1.2 | 6.58E-06 | |
27689 | 14 | A/S | 23 | rs761181487 | 0.3803 | None | gnomAD-4.0.0 | 1.85925E-06 | |
27689 | 14 | A/T | 23 | None | 0.3803 | None | gnomAD-2.1.1 | 4.02E-06 | |
27689 | 14 | A/T | 23 | None | 0.3803 | None | gnomAD-4.0.0 | 6.84243E-07 | |
27689 | 14 | A/V | 23 | None | 0.3803 | None | gnomAD-4.0.0 | 1.59143E-06 | |
27693 | 18 | L/V | 28 | rs1329220257 | 0.1256 | None | gnomAD-2.1.1 | 4.02E-06 | |
27693 | 18 | L/V | 28 | rs1329220257 | 0.1256 | None | gnomAD-4.0.0 | 1.59144E-06 | |
27694 | 19 | R/C | 29 | rs192360370 | 0.4445 | None | gnomAD-2.1.1 | 3.03305E-04 | |
27694 | 19 | R/C | 29 | rs192360370 | 0.4445 | None | gnomAD-3.1.2 | 1.2498E-04 | |
27694 | 19 | R/C | 29 | rs192360370 | 0.4445 | None | 1000 genomes | 5.99042E-04 | |
27694 | 19 | R/C | 29 | rs192360370 | 0.4445 | None | gnomAD-4.0.0 | 2.28682E-04 | |
27694 | 19 | R/H | 29 | rs775499341 | 0.4445 | None | gnomAD-2.1.1 | 1.71307E-04 | |
27694 | 19 | R/H | 29 | rs775499341 | 0.4445 | None | gnomAD-3.1.2 | 5.92E-05 | |
27694 | 19 | R/H | 29 | rs775499341 | 0.4445 | None | gnomAD-4.0.0 | 5.20616E-05 | |
27695 | 20 | L/I | 30 | None | 0.1278 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27695 | 20 | L/S | 30 | rs772893209 | 0.1278 | None | gnomAD-2.1.1 | 4.02E-06 | |
27695 | 20 | L/S | 30 | rs772893209 | 0.1278 | None | gnomAD-4.0.0 | 5.47399E-06 | |
27696 | 21 | F/C | 31 | rs769398545 | 0.3448 | None | gnomAD-2.1.1 | 8.04E-06 | |
27696 | 21 | F/C | 31 | rs769398545 | 0.3448 | None | gnomAD-4.0.0 | 4.1055E-06 | |
27696 | 21 | F/S | 31 | rs769398545 | 0.3448 | None | gnomAD-2.1.1 | 4.02E-06 | |
27696 | 21 | F/S | 31 | rs769398545 | 0.3448 | None | gnomAD-4.0.0 | 6.8425E-07 | |
27697 | 22 | V/A | 33 | None | 0.1035 | None | gnomAD-4.0.0 | 1.59146E-06 | |
27698 | 23 | T/A | 34 | None | 0.3001 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27699 | 24 | I/N | 35 | None | 0.1028 | None | gnomAD-4.0.0 | 6.84242E-07 | |
27699 | 24 | I/T | 35 | rs1411163896 | 0.1028 | None | gnomAD-2.1.1 | 4.02E-06 | |
27699 | 24 | I/T | 35 | rs1411163896 | 0.1028 | None | gnomAD-3.1.2 | 6.58E-06 | |
27699 | 24 | I/T | 35 | rs1411163896 | 0.1028 | None | gnomAD-4.0.0 | 1.85927E-06 | |
27699 | 24 | I/V | 35 | None | 0.1028 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27701 | 26 | G/S | 40 | rs1559314882 | 0.1767 | None | gnomAD-2.1.1 | 4.02E-06 | |
27701 | 26 | G/S | 40 | rs1559314882 | 0.1767 | None | gnomAD-4.0.0 | 4.77453E-06 | |
27702 | 27 | R/L | 41 | None | 0.3826 | None | gnomAD-4.0.0 | 1.36855E-06 | |
27702 | 27 | R/Q | 41 | rs776136653 | 0.3826 | None | gnomAD-2.1.1 | 2.01E-05 | |
27702 | 27 | R/Q | 41 | rs776136653 | 0.3826 | None | gnomAD-3.1.2 | 6.58E-06 | |
27702 | 27 | R/Q | 41 | rs776136653 | 0.3826 | None | gnomAD-4.0.0 | 6.19771E-06 | |
27703 | 28 | P/Q | 42 | None | 0.4300 | None | gnomAD-4.0.0 | 1.59151E-06 | |
27706 | 31 | E/K | 45 | rs72648217 | 0.8231 | None | gnomAD-2.1.1 | 2.01E-05 | |
27706 | 31 | E/K | 45 | rs72648217 | 0.8231 | None | gnomAD-3.1.2 | 2.63E-05 | |
27706 | 31 | E/K | 45 | rs72648217 | 0.8231 | None | 1000 genomes | 1.99681E-04 | |
27706 | 31 | E/K | 45 | rs72648217 | 0.8231 | None | gnomAD-4.0.0 | 2.29294E-05 | |
27707 | 32 | V/G | 46 | rs771940719 | 0.2837 | None | gnomAD-2.1.1 | 4.02E-06 | |
27707 | 32 | V/G | 46 | rs771940719 | 0.2837 | None | gnomAD-4.0.0 | 1.5915E-06 | |
27707 | 32 | V/I | 46 | None | 0.2837 | None | gnomAD-4.0.0 | 1.59148E-06 | |
27708 | 33 | K/Q | 47 | None | 0.5404 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27708 | 33 | K/T | 47 | None | 0.5404 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27709 | 34 | W/C | 48 | None | 0.1996 | None | gnomAD-4.0.0 | 1.59151E-06 | |
27710 | 35 | E/K | 49 | rs1296454749 | 0.3962 | None | gnomAD-4.0.0 | 4.78976E-06 | |
27711 | 36 | K/E | 50 | rs377621382 | 0.1581 | None | gnomAD-4.0.0 | 1.59148E-06 | |
27711 | 36 | K/T | 50 | rs1249941262 | 0.1581 | None | gnomAD-2.1.1 | 4.02E-06 | |
27711 | 36 | K/T | 50 | rs1249941262 | 0.1581 | None | gnomAD-4.0.0 | 1.59176E-06 | |
27712 | 37 | A/T | 51 | None | 0.3942 | None | gnomAD-4.0.0 | 1.59155E-06 | |
27712 | 37 | A/V | 51 | None | 0.3942 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27714 | 39 | G/D | 55 | None | 0.4295 | None | gnomAD-4.0.0 | 2.40064E-06 | |
27715 | 40 | I/S | 56 | None | 1.0474 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27717 | 42 | T/S | 69 | rs757498214 | 0.2138 | None | gnomAD-2.1.1 | 3.18E-05 | |
27717 | 42 | T/S | 69 | rs757498214 | 0.2138 | None | gnomAD-3.1.2 | 1.97E-05 | |
27717 | 42 | T/S | 69 | rs757498214 | 0.2138 | None | gnomAD-4.0.0 | 1.97161E-05 | |
27718 | 43 | D/E | 70 | rs1198738101 | 0.7804 | None | gnomAD-2.1.1 | 8.05E-06 | |
27718 | 43 | D/E | 70 | rs1198738101 | 0.7804 | None | gnomAD-4.0.0 | 3.4213E-06 | |
27718 | 43 | D/N | 70 | None | 0.7804 | None | gnomAD-4.0.0 | 1.59152E-06 | |
27719 | 44 | R/G | 73 | rs929458467 | 0.2907 | None | gnomAD-4.0.0 | 2.40064E-06 | |
27719 | 44 | R/S | 73 | rs1342825597 | 0.2907 | None | gnomAD-2.1.1 | 4.03E-06 | |
27719 | 44 | R/S | 73 | rs1342825597 | 0.2907 | None | gnomAD-4.0.0 | 1.59155E-06 | |
27720 | 45 | A/D | 102 | rs753972441 | 0.2032 | None | gnomAD-2.1.1 | 4.03E-06 | |
27720 | 45 | A/D | 102 | rs753972441 | 0.2032 | None | gnomAD-4.0.0 | 6.84259E-07 | |
27720 | 45 | A/S | 102 | None | 0.2032 | None | gnomAD-4.0.0 | 1.59151E-06 | |
27720 | 45 | A/V | 102 | rs753972441 | 0.2032 | None | gnomAD-4.0.0 | 2.05278E-06 | |
27721 | 46 | Q/H | 122 | None | 0.7009 | None | gnomAD-4.0.0 | 1.59152E-06 | |
27721 | 46 | Q/L | 122 | None | 0.7009 | None | gnomAD-4.0.0 | 1.59152E-06 | |
27722 | 47 | I/M | 123 | None | 0.3467 | None | gnomAD-4.0.0 | 1.59152E-06 | |
27722 | 47 | I/R | 123 | rs794729515 | 0.3467 | None | gnomAD-4.0.0 | 6.84253E-07 | |
27722 | 47 | I/T | 123 | None | 0.3467 | None | gnomAD-4.0.0 | 2.73701E-06 | |
27722 | 47 | I/V | 123 | None | 0.3467 | None | gnomAD-4.0.0 | 2.40064E-06 | |
27723 | 48 | E/D | 125 | rs547706181 | 0.4575 | None | gnomAD-2.1.1 | 4.03E-06 | |
27723 | 48 | E/D | 125 | rs547706181 | 0.4575 | None | gnomAD-3.1.2 | 6.57E-06 | |
27723 | 48 | E/D | 125 | rs547706181 | 0.4575 | None | 1000 genomes | 1.99681E-04 | |
27723 | 48 | E/D | 125 | rs547706181 | 0.4575 | None | gnomAD-4.0.0 | 2.05278E-06 | |
27723 | 48 | E/K | 125 | None | 0.4575 | None | gnomAD-4.0.0 | 1.59157E-06 | |
27723 | 48 | E/Q | 125 | rs1223945642 | 0.4575 | None | gnomAD-2.1.1 | 4.03E-06 | |
27723 | 48 | E/Q | 125 | rs1223945642 | 0.4575 | None | gnomAD-4.0.0 | 3.18313E-06 | |
27724 | 49 | V/G | 127 | rs201896662 | 0.3882 | None | gnomAD-2.1.1 | 5.07516E-04 | |
27724 | 49 | V/G | 127 | rs201896662 | 0.3882 | None | gnomAD-3.1.2 | 5.25928E-04 | |
27724 | 49 | V/G | 127 | rs201896662 | 0.3882 | None | gnomAD-4.0.0 | 3.34047E-04 | |
27726 | 51 | S/G | 131 | None | 0.5482 | None | gnomAD-4.0.0 | 8.89541E-06 | |
27726 | 51 | S/R | 131 | rs1704233145 | 0.5482 | None | gnomAD-3.1.2 | 6.57E-06 | |
27726 | 51 | S/R | 131 | rs1704233145 | 0.5482 | None | gnomAD-4.0.0 | 6.57436E-06 | |
27729 | 54 | T/I | 136 | rs753299607 | 0.0843 | None | gnomAD-2.1.1 | 4.03E-06 | |
27729 | 54 | T/I | 136 | rs753299607 | 0.0843 | None | gnomAD-4.0.0 | 1.59161E-06 | |
27730 | 55 | M/I | 137 | rs1229835465 | 0.2060 | None | gnomAD-2.1.1 | 4.03E-06 | |
27730 | 55 | M/I | 137 | rs1229835465 | 0.2060 | None | gnomAD-4.0.0 | 6.8427E-07 | |
27730 | 55 | M/T | 137 | None | 0.2060 | None | gnomAD-4.0.0 | 1.59161E-06 | |
27732 | 57 | V/L | 139 | None | 0.1781 | None | gnomAD-4.0.0 | 1.36856E-06 | |
27732 | 57 | V/M | 139 | rs1332933880 | 0.1781 | None | gnomAD-2.1.1 | 8.05E-06 | |
27732 | 57 | V/M | 139 | rs1332933880 | 0.1781 | None | gnomAD-3.1.2 | 6.57E-06 | |
27732 | 57 | V/M | 139 | rs1332933880 | 0.1781 | None | gnomAD-4.0.0 | 1.42547E-05 | |
27733 | 58 | I/F | 140 | rs1393748586 | 0.1103 | None | gnomAD-2.1.1 | 4.03E-06 | |
27733 | 58 | I/F | 140 | rs1393748586 | 0.1103 | None | gnomAD-4.0.0 | 1.59169E-06 | |
27733 | 58 | I/L | 140 | None | 0.1103 | None | gnomAD-4.0.0 | 1.59169E-06 | |
27733 | 58 | I/T | 140 | rs759928014 | 0.1103 | None | gnomAD-2.1.1 | 2.01E-05 | |
27733 | 58 | I/T | 140 | rs759928014 | 0.1103 | None | gnomAD-4.0.0 | 3.48986E-05 | |
27734 | 59 | D/N | 141 | None | 0.5521 | None | gnomAD-4.0.0 | 1.59171E-06 | |
27735 | 60 | N/I | 143 | None | 0.6618 | None | gnomAD-4.0.0 | 6.8429E-07 | |
27735 | 60 | N/K | 143 | None | 0.6618 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27735 | 60 | N/T | 143 | None | 0.6618 | None | gnomAD-4.0.0 | 6.8429E-07 | |
27736 | 61 | V/A | 144 | rs1370518448 | 0.0836 | None | gnomAD-3.1.2 | 6.57E-06 | |
27736 | 61 | V/A | 144 | rs1370518448 | 0.0836 | None | gnomAD-4.0.0 | 2.56282E-06 | |
27736 | 61 | V/F | 144 | rs373638788 | 0.0836 | None | gnomAD-2.1.1 | 8.05E-06 | |
27736 | 61 | V/F | 144 | rs373638788 | 0.0836 | None | gnomAD-4.0.0 | 2.73718E-06 | |
27736 | 61 | V/I | 144 | rs373638788 | 0.0836 | None | gnomAD-2.1.1 | 3.19E-05 | |
27736 | 61 | V/I | 144 | rs373638788 | 0.0836 | None | gnomAD-3.1.2 | 6.57E-06 | |
27736 | 61 | V/I | 144 | rs373638788 | 0.0836 | None | gnomAD-4.0.0 | 6.19775E-06 | |
27736 | 61 | V/L | 144 | None | 0.0836 | None | gnomAD-4.0.0 | 1.36859E-06 | |
27737 | 62 | T/A | 145 | rs764871079 | 0.2801 | None | gnomAD-2.1.1 | 1.61E-05 | |
27737 | 62 | T/A | 145 | rs764871079 | 0.2801 | None | gnomAD-4.0.0 | 7.95874E-06 | |
27737 | 62 | T/N | 145 | None | 0.2801 | None | gnomAD-4.0.0 | 1.59178E-06 | |
27738 | 63 | R/G | 146 | None | 0.6042 | None | gnomAD-4.0.0 | 6.84305E-07 | |
27738 | 63 | R/K | 146 | None | 0.6042 | None | gnomAD-4.0.0 | 1.59179E-06 | |
27739 | 64 | F/I | 148 | rs886042186 | 0.7225 | None | gnomAD-2.1.1 | 3.19E-05 | |
27739 | 64 | F/I | 148 | rs886042186 | 0.7225 | None | gnomAD-3.1.2 | 6.57E-06 | |
27739 | 64 | F/I | 148 | rs886042186 | 0.7225 | None | gnomAD-4.0.0 | 7.43747E-06 | |
27740 | 65 | D/E | 149 | rs1364251085 | 0.1670 | None | gnomAD-4.0.0 | 1.59192E-06 | |
27740 | 65 | D/N | 149 | rs776130801 | 0.1670 | None | gnomAD-2.1.1 | 4.03E-06 | |
27740 | 65 | D/N | 149 | rs776130801 | 0.1670 | None | gnomAD-3.1.2 | 6.57E-06 | |
27740 | 65 | D/N | 149 | rs776130801 | 0.1670 | None | gnomAD-4.0.0 | 6.57471E-06 | |
27741 | 66 | S/G | 151 | rs1368077967 | 0.2271 | None | gnomAD-2.1.1 | 4.03E-06 | |
27741 | 66 | S/G | 151 | rs1368077967 | 0.2271 | None | gnomAD-3.1.2 | 6.57E-06 | |
27741 | 66 | S/G | 151 | rs1368077967 | 0.2271 | None | gnomAD-4.0.0 | 5.12601E-06 | |
27741 | 66 | S/N | 151 | None | 0.2271 | None | gnomAD-4.0.0 | 1.59189E-06 | |
27741 | 66 | S/R | 151 | rs1368077967 | 0.2271 | None | gnomAD-3.1.2 | 6.57E-06 | |
27741 | 66 | S/R | 151 | rs1368077967 | 0.2271 | None | gnomAD-4.0.0 | 6.40751E-06 | |
27743 | 68 | R/L | 153 | None | 0.2615 | None | gnomAD-4.0.0 | 6.84351E-07 | |
27743 | 68 | R/Q | 153 | rs768262273 | 0.2615 | None | gnomAD-2.1.1 | 2.42E-05 | |
27743 | 68 | R/Q | 153 | rs768262273 | 0.2615 | None | gnomAD-3.1.2 | 6.58E-06 | |
27743 | 68 | R/Q | 153 | rs768262273 | 0.2615 | None | gnomAD-4.0.0 | 1.30171E-05 | |
27743 | 68 | R/W | 153 | rs1185542536 | 0.2615 | None | gnomAD-2.1.1 | 8.06E-06 | |
27743 | 68 | R/W | 153 | rs1185542536 | 0.2615 | None | gnomAD-3.1.2 | 6.58E-06 | |
27743 | 68 | R/W | 153 | rs1185542536 | 0.2615 | None | gnomAD-4.0.0 | 7.43828E-06 | |
27744 | 69 | Y/H | 154 | None | 0.1284 | None | gnomAD-4.0.0 | 1.59196E-06 | |
27745 | 70 | N/S | 155 | None | 0.2279 | None | gnomAD-4.0.0 | 1.59207E-06 | |
27746 | 71 | L/V | 156 | rs1018294368 | 0.0798 | None | gnomAD-2.1.1 | 4.03E-06 | |
27746 | 71 | L/V | 156 | rs1018294368 | 0.0798 | None | gnomAD-3.1.2 | 6.57E-06 | |
27746 | 71 | L/V | 156 | rs1018294368 | 0.0798 | None | gnomAD-4.0.0 | 6.57479E-06 | |
27748 | 73 | L/S | 158 | rs760072489 | 0.0888 | None | gnomAD-2.1.1 | 4.03E-06 | |
27748 | 73 | L/S | 158 | rs760072489 | 0.0888 | None | gnomAD-4.0.0 | 2.05315E-06 | |
27748 | 73 | L/V | 158 | None | 0.0888 | None | gnomAD-4.0.0 | 1.59219E-06 | |
27749 | 74 | E/G | 159 | None | 0.5581 | None | gnomAD-4.0.0 | 1.59228E-06 | |
27751 | 76 | N/S | 162 | rs775527437 | 0.9634 | None | gnomAD-2.1.1 | 8.08E-06 | |
27751 | 76 | N/S | 162 | rs775527437 | 0.9634 | None | gnomAD-4.0.0 | 4.77742E-06 | |
27752 | 77 | S/C | 163 | None | 0.3050 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27752 | 77 | S/G | 163 | None | 0.3050 | None | gnomAD-4.0.0 | 6.00161E-06 | |
27752 | 77 | S/R | 163 | rs1704199409 | 0.3050 | None | gnomAD-3.1.2 | 6.57E-06 | |
27752 | 77 | S/R | 163 | rs1704199409 | 0.3050 | None | gnomAD-4.0.0 | 6.57324E-06 | |
27753 | 78 | G/C | 164 | None | 0.2657 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27753 | 78 | G/V | 164 | None | 0.2657 | None | gnomAD-4.0.0 | 2.40064E-06 | |
27754 | 79 | S/F | 165 | rs1383167179 | 0.4501 | None | gnomAD-4.0.0 | 1.59294E-06 | |
27755 | 80 | K/N | 166 | None | 0.2800 | None | gnomAD-4.0.0 | 1.59287E-06 | |
27755 | 80 | K/Q | 166 | None | 0.2800 | None | gnomAD-4.0.0 | 1.59297E-06 | |
27756 | 81 | T/I | 168 | rs745672935 | 0.4260 | None | gnomAD-2.1.1 | 1.22E-05 | |
27756 | 81 | T/I | 168 | rs745672935 | 0.4260 | None | gnomAD-4.0.0 | 3.42274E-06 | |
27757 | 82 | A/V | 169 | None | 0.2116 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27758 | 83 | F/C | 171 | None | 0.4426 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27758 | 83 | F/L | 171 | rs188323108 | 0.4426 | None | gnomAD-2.1.1 | 3.4155E-04 | |
27758 | 83 | F/L | 171 | rs188323108 | 0.4426 | None | gnomAD-3.1.2 | 7.23E-05 | |
27758 | 83 | F/L | 171 | rs188323108 | 0.4426 | None | 1000 genomes | 3.99361E-04 | |
27758 | 83 | F/L | 171 | rs188323108 | 0.4426 | None | gnomAD-4.0.0 | 6.07534E-05 | |
27758 | 83 | F/S | 171 | None | 0.4426 | None | gnomAD-4.0.0 | 1.20032E-06 | |
27759 | 84 | V/I | 172 | rs749582041 | 0.1416 | None | gnomAD-2.1.1 | 1.08E-05 | |
27759 | 84 | V/I | 172 | rs749582041 | 0.1416 | None | gnomAD-3.1.2 | 3.29E-05 | |
27759 | 84 | V/I | 172 | rs749582041 | 0.1416 | None | gnomAD-4.0.0 | 4.96027E-06 | |
27760 | 85 | N/I | 173 | rs200714263 | 0.4001 | None | gnomAD-2.1.1 | 2.88E-05 | |
27760 | 85 | N/I | 173 | rs200714263 | 0.4001 | None | gnomAD-3.1.2 | 5.92E-05 | |
27760 | 85 | N/I | 173 | rs200714263 | 0.4001 | None | gnomAD-4.0.0 | 3.34766E-05 | |
27761 | 86 | V/I | 174 | rs371788070 | 0.1116 | None | gnomAD-2.1.1 | 1.62027E-04 | |
27761 | 86 | V/I | 174 | rs371788070 | 0.1116 | None | gnomAD-3.1.2 | 1.90692E-04 | |
27761 | 86 | V/I | 174 | rs371788070 | 0.1116 | None | 1000 genomes | 1.99681E-04 | |
27761 | 86 | V/I | 174 | rs371788070 | 0.1116 | None | gnomAD-4.0.0 | 3.53407E-04 | |
27761 | 86 | V/L | 174 | rs371788070 | 0.1116 | None | gnomAD-2.1.1 | 8.28E-05 | |
27761 | 86 | V/L | 174 | rs371788070 | 0.1116 | None | gnomAD-3.1.2 | 5.92E-05 | |
27761 | 86 | V/L | 174 | rs371788070 | 0.1116 | None | gnomAD-4.0.0 | 1.32692E-04 | |
27762 | 87 | R/T | 175 | rs562523414 | 0.5775 | None | gnomAD-3.1.2 | 6.58E-06 | |
27762 | 87 | R/T | 175 | rs562523414 | 0.5775 | None | 1000 genomes | 1.99681E-04 | |
27762 | 87 | R/T | 175 | rs562523414 | 0.5775 | None | gnomAD-4.0.0 | 4.0596E-06 | |
27763 | 88 | V/A | 177 | rs1161650945 | 0.1557 | None | gnomAD-2.1.1 | 4.06E-06 | |
27763 | 88 | V/A | 177 | rs1161650945 | 0.1557 | None | gnomAD-4.0.0 | 1.59317E-06 | |
27763 | 88 | V/I | 177 | rs1390356312 | 0.1557 | None | gnomAD-2.1.1 | 4.06E-06 | |
27763 | 88 | V/I | 177 | rs1390356312 | 0.1557 | None | gnomAD-4.0.0 | 1.36917E-06 |