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V | P | G | P | P | G | T | P | Q | V | T | A | V | T | K | D | S | M | T | I | S | W | H | E | P | L | S | D | G | G | S | P | I | L | G | Y | H | V | E | R | K | E | R | N | G | I | L | W | Q | T | V | S | K | A | L | V | P | G | N | I | F | K | S | S | G | L | T | D | G | I | A | Y | E | F | R | V | I | A | E | N | M | A | G | K | S | K | P | S | K | P | S | E | P | M | L | A | L | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | D |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
23826 | 1 | V/F | 1 | rs377751708 | 0.4745 | None | gnomAD-2.1.1 | 8.07E-06 | |
23826 | 1 | V/F | 1 | rs377751708 | 0.4745 | None | gnomAD-4.0.0 | 2.73806E-06 | |
23826 | 1 | V/L | 1 | rs377751708 | 0.4745 | None | gnomAD-2.1.1 | 1.61E-05 | |
23826 | 1 | V/L | 1 | rs377751708 | 0.4745 | None | gnomAD-4.0.0 | 2.87496E-05 | |
23827 | 2 | P/A | 2 | None | 0.1161 | None | gnomAD-4.0.0 | 3.42253E-06 | |
23827 | 2 | P/L | 2 | None | 0.1161 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23827 | 2 | P/S | 2 | None | 0.1161 | None | gnomAD-4.0.0 | 6.84507E-07 | |
23827 | 2 | P/T | 2 | rs756520908 | 0.1161 | None | gnomAD-2.1.1 | 4.03E-06 | |
23827 | 2 | P/T | 2 | rs756520908 | 0.1161 | None | gnomAD-4.0.0 | 1.36901E-06 | |
23831 | 6 | G/C | 6 | rs1200630554 | 0.2128 | None | gnomAD-2.1.1 | 4.04E-06 | |
23831 | 6 | G/C | 6 | rs1200630554 | 0.2128 | None | gnomAD-4.0.0 | 6.84588E-07 | |
23831 | 6 | G/V | 6 | rs746618179 | 0.2128 | None | gnomAD-2.1.1 | 4.04E-06 | |
23831 | 6 | G/V | 6 | rs746618179 | 0.2128 | None | gnomAD-4.0.0 | 4.78022E-06 | |
23833 | 8 | P/L | 9 | rs746871712 | 0.1294 | None | gnomAD-2.1.1 | 4.03E-06 | |
23833 | 8 | P/L | 9 | rs746871712 | 0.1294 | None | gnomAD-4.0.0 | 2.73803E-06 | |
23834 | 9 | Q/P | 11 | rs757958768 | 0.7280 | None | gnomAD-2.1.1 | 4.03E-06 | |
23834 | 9 | Q/P | 11 | rs757958768 | 0.7280 | None | gnomAD-4.0.0 | 2.73818E-06 | |
23835 | 10 | V/L | 12 | None | 0.2680 | None | gnomAD-4.0.0 | 1.59281E-06 | |
23836 | 11 | T/S | 13 | None | 0.5042 | None | gnomAD-4.0.0 | 1.59271E-06 | |
23840 | 15 | K/Q | 17 | None | 0.4049 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23840 | 15 | K/R | 17 | None | 0.4049 | None | gnomAD-4.0.0 | 1.59235E-06 | |
23841 | 16 | D/H | 18 | rs764809055 | 0.4686 | None | gnomAD-2.1.1 | 1.21E-05 | |
23841 | 16 | D/H | 18 | rs764809055 | 0.4686 | None | gnomAD-3.1.2 | 6.58E-06 | |
23841 | 16 | D/H | 18 | rs764809055 | 0.4686 | None | gnomAD-4.0.0 | 3.7195E-06 | |
23841 | 16 | D/N | 18 | rs764809055 | 0.4686 | None | gnomAD-2.1.1 | 4.03E-06 | |
23841 | 16 | D/N | 18 | rs764809055 | 0.4686 | None | gnomAD-4.0.0 | 1.36887E-06 | |
23841 | 16 | D/Y | 18 | None | 0.4686 | None | gnomAD-4.0.0 | 2.73774E-06 | |
23843 | 18 | M/I | 20 | None | 0.0736 | None | gnomAD-4.0.0 | 1.36884E-06 | |
23843 | 18 | M/R | 20 | None | 0.0736 | None | gnomAD-4.0.0 | 1.59228E-06 | |
23843 | 18 | M/T | 20 | rs757085121 | 0.0736 | None | gnomAD-2.1.1 | 4.03E-06 | |
23843 | 18 | M/T | 20 | rs757085121 | 0.0736 | None | gnomAD-4.0.0 | 3.18456E-06 | |
23844 | 19 | T/K | 21 | None | 0.2242 | None | gnomAD-4.0.0 | 1.59218E-06 | |
23844 | 19 | T/P | 21 | rs753837961 | 0.2242 | None | gnomAD-2.1.1 | 4.03E-06 | |
23844 | 19 | T/P | 21 | rs753837961 | 0.2242 | None | gnomAD-4.0.0 | 3.18452E-06 | |
23845 | 20 | I/V | 22 | None | 0.0753 | None | gnomAD-4.0.0 | 1.36872E-06 | |
23846 | 21 | S/G | 23 | rs763759336 | 0.2350 | None | gnomAD-2.1.1 | 4.03E-06 | |
23846 | 21 | S/G | 23 | rs763759336 | 0.2350 | None | gnomAD-4.0.0 | 2.73745E-06 | |
23846 | 21 | S/N | 23 | rs760506346 | 0.2350 | None | gnomAD-2.1.1 | 2.82E-05 | |
23846 | 21 | S/N | 23 | rs760506346 | 0.2350 | None | gnomAD-4.0.0 | 1.43723E-05 | |
23846 | 21 | S/R | 23 | rs763759336 | 0.2350 | None | gnomAD-3.1.2 | 6.57E-06 | |
23846 | 21 | S/R | 23 | rs763759336 | 0.2350 | None | gnomAD-4.0.0 | 6.57341E-06 | |
23848 | 23 | H/N | 25 | rs1171521240 | 0.9121 | None | gnomAD-2.1.1 | 4.03E-06 | |
23848 | 23 | H/N | 25 | rs1171521240 | 0.9121 | None | gnomAD-4.0.0 | 3.1839E-06 | |
23848 | 23 | H/Q | 25 | rs1026649081 | 0.9121 | None | gnomAD-3.1.2 | 2.63E-05 | |
23848 | 23 | H/Q | 25 | rs1026649081 | 0.9121 | None | gnomAD-4.0.0 | 4.33879E-06 | |
23848 | 23 | H/R | 25 | rs775670102 | 0.9121 | None | gnomAD-2.1.1 | 8.05E-06 | |
23848 | 23 | H/R | 25 | rs775670102 | 0.9121 | None | gnomAD-4.0.0 | 3.18386E-06 | |
23849 | 24 | E/K | 26 | None | 0.5356 | None | gnomAD-4.0.0 | 1.59194E-06 | |
23850 | 25 | P/A | 27 | rs996458558 | 0.1513 | None | gnomAD-4.0.0 | 4.7903E-06 | |
23851 | 26 | L/P | 28 | None | 1.3259 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23852 | 27 | S/C | 29 | rs1177699712 | 0.4316 | None | gnomAD-2.1.1 | 4.03E-06 | |
23852 | 27 | S/C | 29 | rs1177699712 | 0.4316 | None | gnomAD-4.0.0 | 1.64235E-05 | |
23853 | 28 | D/H | 30 | None | 0.2890 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23853 | 28 | D/N | 30 | rs1387991752 | 0.2890 | None | gnomAD-3.1.2 | 6.57E-06 | |
23853 | 28 | D/N | 30 | rs1387991752 | 0.2890 | None | gnomAD-4.0.0 | 2.03E-06 | |
23854 | 29 | G/V | 31 | rs1472507638 | 0.4199 | None | gnomAD-2.1.1 | 4.03E-06 | |
23854 | 29 | G/V | 31 | rs1472507638 | 0.4199 | None | gnomAD-4.0.0 | 1.5918E-06 | |
23856 | 31 | S/R | 33 | rs1060500519 | 0.2262 | None | gnomAD-4.0.0 | 6.84309E-07 | |
23857 | 32 | P/L | 34 | None | 0.6891 | None | gnomAD-4.0.0 | 1.59173E-06 | |
23858 | 33 | I/V | 35 | rs1401908315 | 0.2093 | None | gnomAD-3.1.2 | 6.57E-06 | |
23858 | 33 | I/V | 35 | rs1401908315 | 0.2093 | None | gnomAD-4.0.0 | 6.57376E-06 | |
23861 | 36 | Y/C | 38 | rs2154171639 | 0.0927 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23861 | 36 | Y/H | 38 | rs759611506 | 0.0927 | None | gnomAD-2.1.1 | 1.21E-05 | |
23861 | 36 | Y/H | 38 | rs759611506 | 0.0927 | None | gnomAD-3.1.2 | 3.95E-05 | |
23861 | 36 | Y/H | 38 | rs759611506 | 0.0927 | None | gnomAD-4.0.0 | 9.29683E-06 | |
23862 | 37 | H/D | 39 | rs774224899 | 0.2705 | None | gnomAD-2.1.1 | 4.03E-06 | |
23862 | 37 | H/D | 39 | rs774224899 | 0.2705 | None | gnomAD-4.0.0 | 2.05286E-06 | |
23862 | 37 | H/Q | 39 | None | 0.2705 | None | gnomAD-4.0.0 | 1.23171E-05 | |
23862 | 37 | H/R | 39 | rs576552787 | 0.2705 | None | gnomAD-2.1.1 | 1.21E-05 | |
23862 | 37 | H/R | 39 | rs576552787 | 0.2705 | None | gnomAD-3.1.2 | 1.97E-05 | |
23862 | 37 | H/R | 39 | rs576552787 | 0.2705 | None | 1000 genomes | 1.99681E-04 | |
23862 | 37 | H/R | 39 | rs576552787 | 0.2705 | None | gnomAD-4.0.0 | 1.85918E-05 | |
23863 | 38 | V/I | 40 | rs367822322 | 0.0826 | None | gnomAD-3.1.2 | 6.57E-06 | |
23863 | 38 | V/I | 40 | rs367822322 | 0.0826 | None | gnomAD-4.0.0 | 6.57462E-06 | |
23865 | 40 | R/G | 42 | None | 0.1891 | None | gnomAD-4.0.0 | 1.59169E-06 | |
23865 | 40 | R/I | 42 | rs1255670842 | 0.1891 | None | gnomAD-2.1.1 | 4.03E-06 | |
23865 | 40 | R/I | 42 | rs1255670842 | 0.1891 | None | gnomAD-4.0.0 | 1.59167E-06 | |
23868 | 43 | R/Q | 50 | rs763316990 | 0.6069 | None | gnomAD-2.1.1 | 8.05E-06 | |
23868 | 43 | R/Q | 50 | rs763316990 | 0.6069 | None | gnomAD-4.0.0 | 7.52714E-06 | |
23869 | 44 | N/K | 54 | rs1709390965 | 0.9736 | None | gnomAD-3.1.2 | 1.32E-05 | |
23869 | 44 | N/K | 54 | rs1709390965 | 0.9736 | None | gnomAD-4.0.0 | 3.09901E-06 | |
23870 | 45 | G/C | 60 | None | 0.2629 | None | gnomAD-4.0.0 | 6.84282E-07 | |
23870 | 45 | G/S | 60 | rs727503564 | 0.2629 | None | gnomAD-2.1.1 | 1.43E-05 | |
23870 | 45 | G/S | 60 | rs727503564 | 0.2629 | None | gnomAD-3.1.2 | 1.97E-05 | |
23870 | 45 | G/S | 60 | rs727503564 | 0.2629 | None | gnomAD-4.0.0 | 1.30159E-05 | |
23870 | 45 | G/V | 60 | rs1709389326 | 0.2629 | None | gnomAD-4.0.0 | 3.42141E-06 | |
23871 | 46 | I/T | 63 | rs770250820 | 1.0105 | None | gnomAD-2.1.1 | 4.02E-06 | |
23871 | 46 | I/T | 63 | rs770250820 | 1.0105 | None | gnomAD-4.0.0 | 1.59163E-06 | |
23873 | 48 | W/C | 65 | None | 0.2336 | None | gnomAD-4.0.0 | 1.59166E-06 | |
23873 | 48 | W/R | 65 | rs748571909 | 0.2336 | None | gnomAD-2.1.1 | 4.02E-06 | |
23873 | 48 | W/R | 65 | rs748571909 | 0.2336 | None | gnomAD-4.0.0 | 1.36856E-06 | |
23874 | 49 | Q/E | 66 | None | 0.6817 | None | gnomAD-4.0.0 | 1.59168E-06 | |
23874 | 49 | Q/H | 66 | rs779839196 | 0.6817 | None | gnomAD-2.1.1 | 4.02E-06 | |
23874 | 49 | Q/H | 66 | rs779839196 | 0.6817 | None | gnomAD-4.0.0 | 1.59166E-06 | |
23874 | 49 | Q/R | 66 | None | 0.6817 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23875 | 50 | T/A | 67 | None | 0.4159 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23875 | 50 | T/N | 67 | rs771783837 | 0.4159 | None | gnomAD-2.1.1 | 2.82E-05 | |
23875 | 50 | T/N | 67 | rs771783837 | 0.4159 | None | gnomAD-3.1.2 | 6.57E-06 | |
23875 | 50 | T/N | 67 | rs771783837 | 0.4159 | None | gnomAD-4.0.0 | 1.73538E-05 | |
23875 | 50 | T/S | 67 | None | 0.4159 | None | gnomAD-4.0.0 | 6.84281E-07 | |
23877 | 52 | S/N | 69 | rs1239475601 | 0.1551 | None | gnomAD-2.1.1 | 6.37E-05 | |
23877 | 52 | S/N | 69 | rs1239475601 | 0.1551 | None | gnomAD-3.1.2 | 1.97E-05 | |
23877 | 52 | S/N | 69 | rs1239475601 | 0.1551 | None | gnomAD-4.0.0 | 5.12552E-06 | |
23879 | 54 | A/P | 72 | rs778238304 | 0.5958 | None | gnomAD-2.1.1 | 4.02E-06 | |
23879 | 54 | A/P | 72 | rs778238304 | 0.5958 | None | gnomAD-4.0.0 | 2.05279E-06 | |
23879 | 54 | A/T | 72 | rs778238304 | 0.5958 | None | gnomAD-2.1.1 | 8.05E-06 | |
23879 | 54 | A/T | 72 | rs778238304 | 0.5958 | None | gnomAD-3.1.2 | 6.57E-06 | |
23879 | 54 | A/T | 72 | rs778238304 | 0.5958 | None | gnomAD-4.0.0 | 3.16072E-05 | |
23879 | 54 | A/V | 72 | rs566803857 | 0.5958 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23880 | 55 | L/S | 75 | None | 0.3233 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23881 | 56 | V/A | 77 | None | 0.1469 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23882 | 57 | P/A | 83 | None | 0.8262 | None | gnomAD-4.0.0 | 1.36852E-06 | |
23882 | 57 | P/R | 83 | rs1709373981 | 0.8262 | None | gnomAD-3.1.2 | 6.58E-06 | |
23882 | 57 | P/R | 83 | rs1709373981 | 0.8262 | None | gnomAD-4.0.0 | 6.5754E-06 | |
23882 | 57 | P/S | 83 | None | 0.8262 | None | gnomAD-4.0.0 | 2.05279E-06 | |
23883 | 58 | G/S | 88 | None | 0.2602 | None | gnomAD-4.0.0 | 3.60097E-06 | |
23884 | 59 | N/K | 89 | None | 0.1714 | None | gnomAD-4.0.0 | 7.20193E-06 | |
23888 | 63 | S/P | 93 | None | 0.1228 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23891 | 66 | L/F | 97 | None | 0.1271 | None | gnomAD-4.0.0 | 3.18331E-06 | |
23891 | 66 | L/P | 97 | None | 0.1271 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23893 | 68 | D/E | 99 | rs777818650 | 0.5060 | None | gnomAD-2.1.1 | 4.02E-06 | |
23893 | 68 | D/E | 99 | rs777818650 | 0.5060 | None | gnomAD-3.1.2 | 6.57E-06 | |
23893 | 68 | D/E | 99 | rs777818650 | 0.5060 | None | gnomAD-4.0.0 | 1.05362E-05 | |
23893 | 68 | D/N | 99 | rs753690633 | 0.5060 | None | gnomAD-2.1.1 | 1.61E-05 | |
23893 | 68 | D/N | 99 | rs753690633 | 0.5060 | None | gnomAD-3.1.2 | 1.31E-05 | |
23893 | 68 | D/N | 99 | rs753690633 | 0.5060 | None | gnomAD-4.0.0 | 1.54942E-05 | |
23893 | 68 | D/V | 99 | rs1449843654 | 0.5060 | None | gnomAD-2.1.1 | 4.02E-06 | |
23893 | 68 | D/V | 99 | rs1449843654 | 0.5060 | None | gnomAD-4.0.0 | 8.21141E-06 | |
23894 | 69 | G/C | 100 | None | 0.2785 | None | gnomAD-4.0.0 | 6.84289E-06 | |
23895 | 70 | I/N | 102 | rs1208236175 | 0.3069 | None | gnomAD-2.1.1 | 3.19E-05 | |
23895 | 70 | I/N | 102 | rs1208236175 | 0.3069 | None | gnomAD-3.1.2 | 6.57E-06 | |
23895 | 70 | I/N | 102 | rs1208236175 | 0.3069 | None | gnomAD-4.0.0 | 1.23954E-06 | |
23895 | 70 | I/T | 102 | None | 0.3069 | None | gnomAD-4.0.0 | 2.05283E-06 | |
23897 | 72 | Y/C | 104 | None | 0.1063 | None | gnomAD-4.0.0 | 3.18341E-06 | |
23897 | 72 | Y/F | 104 | rs1457146309 | 0.1063 | None | gnomAD-2.1.1 | 4.02E-06 | |
23897 | 72 | Y/F | 104 | rs1457146309 | 0.1063 | None | gnomAD-4.0.0 | 1.5917E-06 | |
23897 | 72 | Y/N | 104 | rs1338027065 | 0.1063 | None | gnomAD-2.1.1 | 4.02E-06 | |
23897 | 72 | Y/S | 104 | rs1457146309 | 0.1063 | None | gnomAD-2.1.1 | 4.02E-06 | |
23897 | 72 | Y/S | 104 | rs1457146309 | 0.1063 | None | gnomAD-4.0.0 | 3.18341E-06 | |
23898 | 73 | E/G | 105 | None | 0.1475 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23899 | 74 | F/L | 106 | None | 0.1276 | None | gnomAD-4.0.0 | 2.40064E-06 | |
23900 | 75 | R/P | 107 | None | 0.1444 | None | gnomAD-4.0.0 | 6.84325E-07 | |
23900 | 75 | R/Q | 107 | rs369292052 | 0.1444 | None | gnomAD-2.1.1 | 2.86E-05 | |
23900 | 75 | R/Q | 107 | rs369292052 | 0.1444 | None | gnomAD-3.1.2 | 5.26E-05 | |
23900 | 75 | R/Q | 107 | rs369292052 | 0.1444 | None | gnomAD-4.0.0 | 5.08248E-05 | |
23900 | 75 | R/W | 107 | rs755894115 | 0.1444 | None | gnomAD-2.1.1 | 1.79E-05 | |
23900 | 75 | R/W | 107 | rs755894115 | 0.1444 | None | gnomAD-3.1.2 | 6.58E-06 | |
23900 | 75 | R/W | 107 | rs755894115 | 0.1444 | None | gnomAD-4.0.0 | 6.19835E-06 | |
23901 | 76 | V/M | 108 | None | 0.0713 | None | gnomAD-4.0.0 | 1.36861E-06 | |
23902 | 77 | I/T | 109 | rs55837610 | 0.1351 | None | gnomAD-2.1.1 | 2.16956E-03 | |
23902 | 77 | I/T | 109 | rs55837610 | 0.1351 | None | gnomAD-3.1.2 | 2.01189E-03 | |
23902 | 77 | I/T | 109 | rs55837610 | 0.1351 | None | 1000 genomes | 5.99042E-04 | |
23902 | 77 | I/T | 109 | rs55837610 | 0.1351 | None | gnomAD-4.0.0 | 2.89115E-03 | |
23902 | 77 | I/V | 109 | rs1160675688 | 0.1351 | None | gnomAD-2.1.1 | 4.03E-06 | |
23902 | 77 | I/V | 109 | rs1160675688 | 0.1351 | None | gnomAD-4.0.0 | 2.05294E-06 | |
23903 | 78 | A/E | 110 | None | 0.0748 | None | gnomAD-4.0.0 | 6.84317E-07 | |
23903 | 78 | A/G | 110 | rs759693046 | 0.0748 | None | gnomAD-2.1.1 | 8.05E-06 | |
23903 | 78 | A/G | 110 | rs759693046 | 0.0748 | None | gnomAD-4.0.0 | 1.36863E-06 | |
23903 | 78 | A/T | 110 | rs767300259 | 0.0748 | None | gnomAD-2.1.1 | 2.5E-05 | |
23903 | 78 | A/T | 110 | rs767300259 | 0.0748 | None | gnomAD-3.1.2 | 4.6E-05 | |
23903 | 78 | A/T | 110 | rs767300259 | 0.0748 | None | gnomAD-4.0.0 | 6.19834E-06 | |
23903 | 78 | A/V | 110 | None | 0.0748 | None | gnomAD-4.0.0 | 1.36863E-06 | |
23904 | 79 | E/K | 111 | rs267599038 | 0.2080 | None | gnomAD-4.0.0 | 3.18367E-06 | |
23906 | 81 | M/I | 113 | None | 0.7601 | None | gnomAD-4.0.0 | 6.84324E-07 | |
23906 | 81 | M/T | 113 | None | 0.7601 | None | gnomAD-4.0.0 | 5.47444E-06 | |
23907 | 82 | A/T | 114 | rs1309139547 | 0.4854 | None | gnomAD-2.1.1 | 3.19E-05 | |
23908 | 83 | G/D | 115 | rs540161344 | 0.1833 | None | gnomAD-2.1.1 | 7.15E-05 | |
23908 | 83 | G/D | 115 | rs540161344 | 0.1833 | None | gnomAD-3.1.2 | 1.97322E-04 | |
23908 | 83 | G/D | 115 | rs540161344 | 0.1833 | None | 1000 genomes | 3.99361E-04 | |
23908 | 83 | G/D | 115 | rs540161344 | 0.1833 | None | gnomAD-4.0.0 | 5.5108E-05 | |
23908 | 83 | G/R | 115 | rs1417810577 | 0.1833 | None | gnomAD-3.1.2 | 6.57E-06 | |
23908 | 83 | G/R | 115 | rs1417810577 | 0.1833 | None | gnomAD-4.0.0 | 6.57462E-06 | |
23909 | 84 | K/E | 117 | rs557406526 | 0.3767 | None | gnomAD-2.1.1 | 4.03E-06 | |
23909 | 84 | K/E | 117 | rs557406526 | 0.3767 | None | gnomAD-4.0.0 | 1.59184E-06 | |
23910 | 85 | S/N | 118 | rs1060500509 | 0.1041 | None | gnomAD-2.1.1 | 4.03E-06 | |
23910 | 85 | S/N | 118 | rs1060500509 | 0.1041 | None | gnomAD-3.1.2 | 6.57E-06 | |
23910 | 85 | S/N | 118 | rs1060500509 | 0.1041 | None | gnomAD-4.0.0 | 2.4792E-06 | |
23911 | 86 | K/E | 119 | rs763131148 | 0.8649 | None | gnomAD-2.1.1 | 8.05E-06 | |
23911 | 86 | K/E | 119 | rs763131148 | 0.8649 | None | gnomAD-3.1.2 | 3.29E-05 | |
23911 | 86 | K/E | 119 | rs763131148 | 0.8649 | None | gnomAD-4.0.0 | 3.03697E-05 | |
23911 | 86 | K/Q | 119 | None | 0.8649 | None | gnomAD-3.1.2 | 6.57E-06 | |
23911 | 86 | K/Q | 119 | None | 0.8649 | None | gnomAD-4.0.0 | 6.57307E-06 | |
23911 | 86 | K/R | 119 | rs570788965 | 0.8649 | None | gnomAD-3.1.2 | 1.31E-05 | |
23911 | 86 | K/R | 119 | rs570788965 | 0.8649 | None | 1000 genomes | 3.99361E-04 | |
23911 | 86 | K/R | 119 | rs570788965 | 0.8649 | None | gnomAD-4.0.0 | 3.84378E-06 | |
23912 | 87 | P/A | 120 | rs773568399 | 0.3257 | None | gnomAD-3.1.2 | 6.58E-06 | |
23912 | 87 | P/A | 120 | rs773568399 | 0.3257 | None | gnomAD-4.0.0 | 1.23964E-06 | |
23912 | 87 | P/T | 120 | None | 0.3257 | None | gnomAD-2.1.1 | 1.43E-05 | |
23912 | 87 | P/T | 120 | None | 0.3257 | None | gnomAD-3.1.2 | 1.32E-05 | |
23912 | 87 | P/T | 120 | None | 0.3257 | None | gnomAD-4.0.0 | 1.0537E-05 | |
23913 | 88 | S/N | 121 | rs1709335824 | 0.1042 | None | gnomAD-4.0.0 | 1.59182E-06 | |
23915 | 90 | P/T | 123 | None | 0.3548 | None | gnomAD-4.0.0 | 1.59179E-06 | |
23916 | 91 | S/L | 124 | rs1283305854 | 0.1279 | None | gnomAD-2.1.1 | 7.14E-06 | |
23916 | 91 | S/L | 124 | rs1283305854 | 0.1279 | None | gnomAD-3.1.2 | 6.58E-06 | |
23916 | 91 | S/L | 124 | rs1283305854 | 0.1279 | None | gnomAD-4.0.0 | 5.12584E-06 | |
23919 | 94 | M/R | 127 | rs769164762 | 0.3740 | None | gnomAD-2.1.1 | 4.02E-06 | |
23919 | 94 | M/T | 127 | None | 0.3740 | None | gnomAD-4.0.0 | 2.40064E-06 | |
23919 | 94 | M/V | 127 | rs777077373 | 0.3740 | None | gnomAD-2.1.1 | 1.21E-05 | |
23919 | 94 | M/V | 127 | rs777077373 | 0.3740 | None | gnomAD-4.0.0 | 3.42137E-06 | |
23920 | 95 | L/S | 129 | None | 0.3863 | None | gnomAD-4.0.0 | 1.59159E-06 | |
23921 | 96 | A/P | 130 | rs369272565 | 0.0653 | None | gnomAD-3.1.2 | 1.32E-05 | |
23921 | 96 | A/P | 130 | rs369272565 | 0.0653 | None | gnomAD-4.0.0 | 1.3155E-05 | |
23921 | 96 | A/V | 130 | rs745468509 | 0.0653 | None | gnomAD-2.1.1 | 8.04E-06 | |
23921 | 96 | A/V | 130 | rs745468509 | 0.0653 | None | gnomAD-4.0.0 | 3.18319E-06 |