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T | E | F | V | E | H | L | E | D | Q | T | V | T | E | F | D | D | A | V | F | S | C | Q | L | S | R | E | K | A | N | V | K | W | Y | R | N | G | R | E | I | K | E | G | K | K | Y | K | F | E | K | D | G | S | I | H | R | L | I | I | K | D | C | R | L | D | D | E | C | E | Y | A | C | G | V | E | D | R | K | S | R | A | R | L | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
15391 | 1 | T/I | 1 | rs775807236 | 0.3779 | None | gnomAD-2.1.1 | 4.11E-06 | |
15391 | 1 | T/I | 1 | rs775807236 | 0.3779 | None | gnomAD-4.0.0 | 6.19711E-06 | |
15391 | 1 | T/R | 1 | None | 0.3779 | None | gnomAD-4.0.0 | 1.37714E-06 | |
15393 | 3 | F/L | 3 | rs1301808455 | 0.2044 | None | gnomAD-2.1.1 | 1.25E-05 | |
15393 | 3 | F/L | 3 | rs1301808455 | 0.2044 | None | gnomAD-3.1.2 | 1.32E-05 | |
15393 | 3 | F/L | 3 | rs1301808455 | 0.2044 | None | gnomAD-4.0.0 | 6.51383E-06 | |
15393 | 3 | F/S | 3 | rs1157527811 | 0.2044 | None | gnomAD-3.1.2 | 1.32E-05 | |
15393 | 3 | F/S | 3 | rs1157527811 | 0.2044 | None | gnomAD-4.0.0 | 1.31664E-05 | |
15395 | 5 | E/G | 5 | None | 0.3947 | None | gnomAD-4.0.0 | 6.91192E-07 | |
15395 | 5 | E/K | 5 | rs771991019 | 0.3947 | None | gnomAD-2.1.1 | 4.18E-06 | |
15395 | 5 | E/K | 5 | rs771991019 | 0.3947 | None | gnomAD-4.0.0 | 4.1461E-06 | |
15396 | 6 | H/P | 7 | None | 0.5347 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15398 | 8 | E/K | 9 | rs1405135300 | 0.8399 | None | gnomAD-3.1.2 | 6.58E-06 | |
15398 | 8 | E/K | 9 | rs1405135300 | 0.8399 | None | gnomAD-4.0.0 | 2.62404E-06 | |
15398 | 8 | E/V | 9 | rs978970349 | 0.8399 | None | gnomAD-2.1.1 | 4.23E-06 | |
15398 | 8 | E/V | 9 | rs978970349 | 0.8399 | None | gnomAD-4.0.0 | 1.47524E-05 | |
15399 | 9 | D/E | 11 | rs1332002805 | 0.4194 | None | gnomAD-2.1.1 | 4.28E-06 | |
15399 | 9 | D/E | 11 | rs1332002805 | 0.4194 | None | gnomAD-4.0.0 | 1.65094E-06 | |
15399 | 9 | D/G | 11 | None | 0.4194 | None | gnomAD-4.0.0 | 1.64878E-06 | |
15400 | 10 | Q/H | 13 | rs745948750 | 0.2585 | None | gnomAD-2.1.1 | 4.31E-06 | |
15400 | 10 | Q/H | 13 | rs745948750 | 0.2585 | None | gnomAD-4.0.0 | 1.65636E-06 | |
15400 | 10 | Q/K | 13 | rs2154210935 | 0.2585 | None | gnomAD-4.0.0 | 1.39075E-06 | |
15400 | 10 | Q/L | 13 | None | 0.2585 | None | gnomAD-4.0.0 | 4.80129E-06 | |
15401 | 11 | T/I | 14 | None | 0.4632 | None | gnomAD-4.0.0 | 1.6578E-06 | |
15401 | 11 | T/R | 14 | rs2058077890 | 0.4632 | None | gnomAD-3.1.2 | 6.58E-06 | |
15401 | 11 | T/R | 14 | rs2058077890 | 0.4632 | None | gnomAD-4.0.0 | 2.64855E-06 | |
15402 | 12 | V/A | 16 | rs1559868004 | 0.1715 | None | gnomAD-2.1.1 | 4.38E-06 | |
15402 | 12 | V/A | 16 | rs1559868004 | 0.1715 | None | gnomAD-4.0.0 | 5.58645E-06 | |
15402 | 12 | V/I | 16 | None | 0.1715 | None | gnomAD-4.0.0 | 3.32775E-06 | |
15403 | 13 | T/S | 18 | None | 0.4659 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15404 | 14 | E/G | 23 | rs878854311 | 0.2700 | None | gnomAD-4.0.0 | 1.68363E-06 | |
15404 | 14 | E/K | 23 | None | 0.2700 | None | gnomAD-4.0.0 | 1.67923E-06 | |
15405 | 15 | F/L | 24 | rs779560487 | 0.4601 | None | gnomAD-3.1.2 | 6.58E-06 | |
15405 | 15 | F/L | 24 | rs779560487 | 0.4601 | None | gnomAD-4.0.0 | 6.58415E-06 | |
15406 | 16 | D/N | 25 | rs2058075487 | 0.4477 | None | gnomAD-4.0.0 | 2.8165E-06 | |
15407 | 17 | D/E | 26 | rs370808856 | 0.4804 | None | gnomAD-2.1.1 | 4.63E-06 | |
15407 | 17 | D/E | 26 | rs370808856 | 0.4804 | None | gnomAD-3.1.2 | 6.58E-06 | |
15407 | 17 | D/E | 26 | rs370808856 | 0.4804 | None | 1000 genomes | 1.99681E-04 | |
15407 | 17 | D/E | 26 | rs370808856 | 0.4804 | None | gnomAD-4.0.0 | 1.27475E-06 | |
15407 | 17 | D/G | 26 | rs375445028 | 0.4804 | None | gnomAD-2.1.1 | 9.22E-06 | |
15407 | 17 | D/G | 26 | rs375445028 | 0.4804 | None | gnomAD-3.1.2 | 6.58E-06 | |
15407 | 17 | D/G | 26 | rs375445028 | 0.4804 | None | gnomAD-4.0.0 | 1.22081E-05 | |
15408 | 18 | A/D | 28 | rs537697585 | 0.1534 | None | gnomAD-2.1.1 | 4.68E-06 | |
15408 | 18 | A/D | 28 | rs537697585 | 0.1534 | None | gnomAD-3.1.2 | 6.58E-06 | |
15408 | 18 | A/D | 28 | rs537697585 | 0.1534 | None | 1000 genomes | 1.99681E-04 | |
15408 | 18 | A/D | 28 | rs537697585 | 0.1534 | None | gnomAD-4.0.0 | 6.57756E-06 | |
15408 | 18 | A/S | 28 | rs730880239 | 0.1534 | None | gnomAD-3.1.2 | 6.58E-06 | |
15408 | 18 | A/T | 28 | rs730880239 | 0.1534 | None | gnomAD-2.1.1 | 1.59578E-04 | |
15408 | 18 | A/T | 28 | rs730880239 | 0.1534 | None | gnomAD-3.1.2 | 5.93E-05 | |
15408 | 18 | A/T | 28 | rs730880239 | 0.1534 | None | gnomAD-4.0.0 | 8.24287E-05 | |
15408 | 18 | A/V | 28 | None | 0.1534 | None | gnomAD-4.0.0 | 3.53649E-06 | |
15409 | 19 | V/A | 29 | None | 0.3814 | None | gnomAD-4.0.0 | 1.72961E-06 | |
15409 | 19 | V/I | 29 | rs2058073034 | 0.3814 | None | gnomAD-4.0.0 | 1.41639E-06 | |
15410 | 20 | F/L | 30 | rs1450114008 | 0.1160 | None | gnomAD-3.1.2 | 1.32E-05 | |
15410 | 20 | F/L | 30 | rs1450114008 | 0.1160 | None | gnomAD-4.0.0 | 1.31643E-05 | |
15413 | 23 | Q/R | 34 | rs878864622 | 0.2044 | None | gnomAD-4.0.0 | 2.14504E-06 | |
15414 | 24 | L/P | 35 | None | 0.1397 | None | gnomAD-4.0.0 | 7.16396E-07 | |
15416 | 26 | R/T | 40 | None | 0.6228 | None | gnomAD-4.0.0 | 2.15149E-06 | |
15417 | 27 | E/D | 42 | rs993637686 | 0.7524 | None | gnomAD-4.0.0 | 1.79013E-06 | |
15419 | 29 | A/S | 44 | rs761783891 | 0.2469 | None | gnomAD-2.1.1 | 1.04E-05 | |
15419 | 29 | A/S | 44 | rs761783891 | 0.2469 | None | gnomAD-4.0.0 | 7.19108E-07 | |
15419 | 29 | A/T | 44 | rs761783891 | 0.2469 | None | gnomAD-2.1.1 | 1.04E-05 | |
15419 | 29 | A/T | 44 | rs761783891 | 0.2469 | None | gnomAD-3.1.2 | 6.58E-06 | |
15419 | 29 | A/T | 44 | rs761783891 | 0.2469 | None | gnomAD-4.0.0 | 2.39872E-05 | |
15420 | 30 | N/D | 45 | rs2058069795 | 0.9374 | None | gnomAD-3.1.2 | 6.58E-06 | |
15420 | 30 | N/D | 45 | rs2058069795 | 0.9374 | None | gnomAD-4.0.0 | 2.82719E-06 | |
15420 | 30 | N/S | 45 | None | 0.9374 | None | gnomAD-4.0.0 | 2.15934E-06 | |
15421 | 31 | V/I | 46 | rs1182471718 | 0.3260 | None | gnomAD-2.1.1 | 5.26E-06 | |
15421 | 31 | V/I | 46 | rs1182471718 | 0.3260 | None | gnomAD-4.0.0 | 1.79914E-06 | |
15423 | 33 | W/C | 48 | rs2058068284 | 0.1312 | None | gnomAD-3.1.2 | 6.58E-06 | |
15424 | 34 | Y/H | 49 | rs1221444659 | 0.1906 | None | gnomAD-3.1.2 | 6.58E-06 | |
15426 | 36 | N/Y | 51 | rs763751237 | 0.6150 | None | gnomAD-2.1.1 | 1.06E-05 | |
15426 | 36 | N/Y | 51 | rs763751237 | 0.6150 | None | gnomAD-4.0.0 | 5.76349E-06 | |
15427 | 37 | G/E | 52 | rs775511280 | 0.4127 | None | gnomAD-2.1.1 | 5.3E-06 | |
15427 | 37 | G/E | 52 | rs775511280 | 0.4127 | None | gnomAD-4.0.0 | 1.44321E-06 | |
15427 | 37 | G/R | 52 | rs760535484 | 0.4127 | None | gnomAD-2.1.1 | 1.83E-05 | |
15427 | 37 | G/R | 52 | rs760535484 | 0.4127 | None | gnomAD-3.1.2 | 1.97E-05 | |
15427 | 37 | G/R | 52 | rs760535484 | 0.4127 | None | gnomAD-4.0.0 | 9.7598E-06 | |
15428 | 38 | R/K | 55 | rs2058065577 | 0.8096 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15432 | 42 | E/A | 70 | None | 0.3986 | None | gnomAD-4.0.0 | 6.49868E-06 | |
15432 | 42 | E/D | 70 | None | 0.3986 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15432 | 42 | E/Q | 70 | rs1319118967 | 0.3986 | None | gnomAD-3.1.2 | 6.58E-06 | |
15432 | 42 | E/Q | 70 | rs1319118967 | 0.3986 | None | gnomAD-4.0.0 | 1.95325E-06 | |
15432 | 42 | E/V | 70 | rs1202126471 | 0.3986 | None | gnomAD-3.1.2 | 1.32E-05 | |
15432 | 42 | E/V | 70 | rs1202126471 | 0.3986 | None | gnomAD-4.0.0 | 1.31626E-05 | |
15433 | 43 | G/C | 73 | None | 0.3827 | None | gnomAD-4.0.0 | 7.22964E-07 | |
15433 | 43 | G/D | 73 | rs1553715070 | 0.3827 | None | gnomAD-2.1.1 | 5.36E-06 | |
15433 | 43 | G/D | 73 | rs1553715070 | 0.3827 | None | gnomAD-4.0.0 | 1.81664E-06 | |
15436 | 46 | Y/C | 121 | None | 0.2002 | None | gnomAD-4.0.0 | 1.60326E-06 | |
15436 | 46 | Y/H | 121 | rs748548136 | 0.2002 | None | gnomAD-2.1.1 | 4.09E-06 | |
15436 | 46 | Y/H | 121 | rs748548136 | 0.2002 | None | gnomAD-3.1.2 | 1.98E-05 | |
15436 | 46 | Y/H | 121 | rs748548136 | 0.2002 | None | gnomAD-4.0.0 | 5.59456E-06 | |
15436 | 46 | Y/N | 121 | rs748548136 | 0.2002 | None | gnomAD-2.1.1 | 4.09E-06 | |
15436 | 46 | Y/N | 121 | rs748548136 | 0.2002 | None | gnomAD-3.1.2 | 6.58E-06 | |
15436 | 46 | Y/N | 121 | rs748548136 | 0.2002 | None | gnomAD-4.0.0 | 3.10809E-06 | |
15437 | 47 | K/T | 122 | rs552087956 | 0.3904 | None | gnomAD-2.1.1 | 4.1E-06 | |
15437 | 47 | K/T | 122 | rs552087956 | 0.3904 | None | gnomAD-3.1.2 | 6.58E-06 | |
15437 | 47 | K/T | 122 | rs552087956 | 0.3904 | None | 1000 genomes | 1.99681E-04 | |
15437 | 47 | K/T | 122 | rs552087956 | 0.3904 | None | gnomAD-4.0.0 | 6.57895E-06 | |
15439 | 49 | E/G | 125 | None | 0.4144 | None | gnomAD-4.0.0 | 1.60193E-06 | |
15439 | 49 | E/K | 125 | None | 0.4144 | None | gnomAD-4.0.0 | 1.37266E-06 | |
15439 | 49 | E/Q | 125 | rs758101152 | 0.4144 | None | gnomAD-2.1.1 | 4.11E-06 | |
15439 | 49 | E/Q | 125 | rs758101152 | 0.4144 | None | gnomAD-3.1.2 | 6.59E-06 | |
15439 | 49 | E/Q | 125 | rs758101152 | 0.4144 | None | gnomAD-4.0.0 | 1.24315E-06 | |
15440 | 50 | K/R | 127 | None | 0.3423 | None | gnomAD-4.0.0 | 1.60166E-06 | |
15442 | 52 | G/A | 131 | rs749908018 | 0.2855 | None | gnomAD-2.1.1 | 8.18E-06 | |
15442 | 52 | G/A | 131 | rs749908018 | 0.2855 | None | gnomAD-3.1.2 | 6.59E-06 | |
15442 | 52 | G/A | 131 | rs749908018 | 0.2855 | None | gnomAD-4.0.0 | 3.10578E-06 | |
15444 | 54 | I/V | 135 | rs1333036641 | 0.2400 | None | gnomAD-2.1.1 | 4.07E-06 | |
15444 | 54 | I/V | 135 | rs1333036641 | 0.2400 | None | gnomAD-4.0.0 | 1.59876E-06 | |
15445 | 55 | H/R | 136 | None | 0.1628 | None | gnomAD-4.0.0 | 1.59675E-06 | |
15445 | 55 | H/Y | 136 | rs1295193843 | 0.1628 | None | gnomAD-2.1.1 | 4.05E-06 | |
15445 | 55 | H/Y | 136 | rs1295193843 | 0.1628 | None | gnomAD-4.0.0 | 1.59686E-06 | |
15447 | 57 | L/F | 138 | None | 0.0686 | None | gnomAD-4.0.0 | 1.59565E-06 | |
15448 | 58 | I/L | 139 | None | 0.2086 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15451 | 61 | D/Y | 143 | rs1576541228 | 0.4610 | None | gnomAD-4.0.0 | 4.10974E-06 | |
15452 | 62 | C/G | 144 | rs2058039119 | 0.0892 | None | gnomAD-4.0.0 | 1.36991E-06 | |
15452 | 62 | C/R | 144 | None | 0.0892 | None | gnomAD-4.0.0 | 6.84955E-07 | |
15452 | 62 | C/S | 144 | rs2058039119 | 0.0892 | None | gnomAD-3.1.2 | 6.58E-06 | |
15452 | 62 | C/S | 144 | rs2058039119 | 0.0892 | None | gnomAD-4.0.0 | 6.58475E-06 | |
15453 | 63 | R/S | 145 | rs1553714751 | 0.1967 | None | gnomAD-4.0.0 | 6.84947E-07 | |
15453 | 63 | R/T | 145 | rs1325948079 | 0.1967 | None | gnomAD-2.1.1 | 4.05E-06 | |
15453 | 63 | R/T | 145 | rs1325948079 | 0.1967 | None | gnomAD-4.0.0 | 1.59522E-06 | |
15455 | 65 | D/N | 148 | rs370813526 | 0.7241 | None | gnomAD-2.1.1 | 5.67E-05 | |
15455 | 65 | D/N | 148 | rs370813526 | 0.7241 | None | gnomAD-3.1.2 | 4.61E-05 | |
15455 | 65 | D/N | 148 | rs370813526 | 0.7241 | None | gnomAD-4.0.0 | 9.11989E-05 | |
15456 | 66 | D/N | 149 | None | 0.1909 | None | gnomAD-4.0.0 | 1.59515E-06 | |
15457 | 67 | E/D | 151 | rs764100235 | 0.4750 | None | gnomAD-2.1.1 | 4.05E-06 | |
15457 | 67 | E/D | 151 | rs764100235 | 0.4750 | None | gnomAD-3.1.2 | 6.59E-06 | |
15457 | 67 | E/D | 151 | rs764100235 | 0.4750 | None | gnomAD-4.0.0 | 1.86118E-06 | |
15457 | 67 | E/K | 151 | rs753664074 | 0.4750 | None | gnomAD-2.1.1 | 4.45E-05 | |
15457 | 67 | E/K | 151 | rs753664074 | 0.4750 | None | gnomAD-3.1.2 | 6.58E-06 | |
15457 | 67 | E/K | 151 | rs753664074 | 0.4750 | None | gnomAD-4.0.0 | 1.24077E-05 | |
15458 | 68 | C/R | 152 | rs2058036083 | 0.1144 | None | gnomAD-3.1.2 | 6.59E-06 | |
15458 | 68 | C/R | 152 | rs2058036083 | 0.1144 | None | gnomAD-4.0.0 | 6.58588E-06 | |
15458 | 68 | C/Y | 152 | rs377564388 | 0.1144 | None | gnomAD-2.1.1 | 2.16E-05 | |
15458 | 68 | C/Y | 152 | rs377564388 | 0.1144 | None | gnomAD-3.1.2 | 1.98E-05 | |
15458 | 68 | C/Y | 152 | rs377564388 | 0.1144 | None | gnomAD-4.0.0 | 5.64553E-05 | |
15459 | 69 | E/Q | 153 | rs752596345 | 0.3262 | None | gnomAD-2.1.1 | 4.05E-06 | |
15459 | 69 | E/Q | 153 | rs752596345 | 0.3262 | None | gnomAD-4.0.0 | 1.59515E-06 | |
15462 | 72 | C/W | 156 | None | 0.0910 | None | gnomAD-4.0.0 | 6.84994E-07 | |
15463 | 73 | G/R | 157 | rs200042932 | 0.1383 | None | gnomAD-2.1.1 | 2.98514E-04 | |
15463 | 73 | G/R | 157 | rs200042932 | 0.1383 | None | gnomAD-3.1.2 | 2.63584E-04 | |
15463 | 73 | G/R | 157 | rs200042932 | 0.1383 | None | 1000 genomes | 3.99361E-04 | |
15463 | 73 | G/R | 157 | rs200042932 | 0.1383 | None | gnomAD-4.0.0 | 2.73992E-06 | |
15464 | 74 | V/A | 158 | rs1191623943 | 0.1715 | None | gnomAD-2.1.1 | 8.11E-06 | |
15464 | 74 | V/A | 158 | rs1191623943 | 0.1715 | None | gnomAD-3.1.2 | 6.59E-06 | |
15464 | 74 | V/A | 158 | rs1191623943 | 0.1715 | None | gnomAD-4.0.0 | 7.70634E-06 | |
15464 | 74 | V/I | 158 | rs763137958 | 0.1715 | None | gnomAD-2.1.1 | 4.05E-06 | |
15464 | 74 | V/L | 158 | rs763137958 | 0.1715 | None | gnomAD-2.1.1 | 4.05E-06 | |
15464 | 74 | V/L | 158 | rs763137958 | 0.1715 | None | gnomAD-4.0.0 | 1.59548E-06 | |
15465 | 75 | E/G | 159 | rs773523242 | 0.6087 | None | gnomAD-2.1.1 | 4.06E-06 | |
15465 | 75 | E/G | 159 | rs773523242 | 0.6087 | None | gnomAD-4.0.0 | 1.59546E-06 | |
15466 | 76 | D/H | 161 | rs758950651 | 0.8122 | None | gnomAD-2.1.1 | 4.06E-06 | |
15466 | 76 | D/Y | 161 | None | 0.8122 | None | gnomAD-4.0.0 | 2.40064E-06 | |
15467 | 77 | R/S | 162 | rs1467418331 | 0.3685 | None | gnomAD-2.1.1 | 1.62E-05 | |
15467 | 77 | R/S | 162 | rs1467418331 | 0.3685 | None | gnomAD-3.1.2 | 6.59E-06 | |
15467 | 77 | R/S | 162 | rs1467418331 | 0.3685 | None | gnomAD-4.0.0 | 4.3438E-06 | |
15469 | 79 | S/F | 164 | rs376373678 | 0.1083 | None | gnomAD-2.1.1 | 1.63E-05 | |
15469 | 79 | S/F | 164 | rs376373678 | 0.1083 | None | gnomAD-3.1.2 | 2.64E-05 | |
15469 | 79 | S/F | 164 | rs376373678 | 0.1083 | None | gnomAD-4.0.0 | 3.78731E-05 | |
15470 | 80 | R/C | 165 | rs373502448 | 0.5433 | None | gnomAD-2.1.1 | 8.16E-06 | |
15470 | 80 | R/C | 165 | rs373502448 | 0.5433 | None | gnomAD-4.0.0 | 1.44039E-05 | |
15470 | 80 | R/H | 165 | rs769044716 | 0.5433 | None | gnomAD-2.1.1 | 2.04E-05 | |
15470 | 80 | R/H | 165 | rs769044716 | 0.5433 | None | gnomAD-3.1.2 | 1.98E-05 | |
15470 | 80 | R/H | 165 | rs769044716 | 0.5433 | None | gnomAD-4.0.0 | 1.1177E-05 | |
15471 | 81 | A/T | 166 | None | 0.0983 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15471 | 81 | A/V | 166 | rs1268534567 | 0.0983 | None | gnomAD-2.1.1 | 4.08E-06 | |
15471 | 81 | A/V | 166 | rs1268534567 | 0.0983 | None | gnomAD-3.1.2 | 6.59E-06 | |
15471 | 81 | A/V | 166 | rs1268534567 | 0.0983 | None | gnomAD-4.0.0 | 2.57302E-06 | |
15472 | 82 | R/I | 168 | None | 0.4687 | None | gnomAD-4.0.0 | 6.85722E-07 | |
15472 | 82 | R/T | 168 | rs2058028450 | 0.4687 | None | gnomAD-3.1.2 | 6.59E-06 | |
15472 | 82 | R/T | 168 | rs2058028450 | 0.4687 | None | gnomAD-4.0.0 | 5.58954E-06 |