10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | S | F | T | K | R | L | S | E | T | V | E | E | T | E | G | N | S | F | K | L | E | G | R | V | A | G | S | Q | P | I | T | V | A | W | Y | K | N | N | I | E | I | Q | P | T | S | N | C | E | I | T | F | K | N | N | T | L | V | L | Q | V | R | K | A | G | M | N | D | A | G | L | Y | T | C | K | V | S | N | D | A | G | S | A | L | C | T | S | S | I | V | I |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
9493 | 1 | P/R | 1 | None | 0.2593 | None | gnomAD-4.0.0 | 4.79011E-06 | |
9493 | 1 | P/S | 1 | None | 0.2593 | None | gnomAD-4.0.0 | 1.59664E-06 | |
9493 | 1 | P/T | 1 | rs778959524 | 0.2593 | None | gnomAD-2.1.1 | 4.03E-06 | |
9493 | 1 | P/T | 1 | rs778959524 | 0.2593 | None | gnomAD-4.0.0 | 3.1933E-06 | |
9494 | 2 | S/C | 2 | rs1553886767 | 0.4284 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9494 | 2 | S/N | 2 | None | 0.4284 | None | gnomAD-4.0.0 | 1.59582E-06 | |
9495 | 3 | F/L | 3 | None | 0.2749 | None | gnomAD-4.0.0 | 1.59569E-06 | |
9496 | 4 | T/N | 4 | None | 0.5316 | None | gnomAD-4.0.0 | 6.84967E-07 | |
9496 | 4 | T/P | 4 | rs1397154421 | 0.5316 | None | gnomAD-2.1.1 | 4.02E-06 | |
9496 | 4 | T/P | 4 | rs1397154421 | 0.5316 | None | gnomAD-4.0.0 | 4.79488E-06 | |
9496 | 4 | T/S | 4 | None | 0.5316 | None | gnomAD-4.0.0 | 6.84967E-07 | |
9498 | 6 | R/G | 7 | rs757471312 | 0.8330 | None | gnomAD-2.1.1 | 8.05E-06 | |
9498 | 6 | R/G | 7 | rs757471312 | 0.8330 | None | gnomAD-4.0.0 | 3.18919E-06 | |
9499 | 7 | L/F | 8 | rs1060500573 | 0.2209 | None | gnomAD-3.1.2 | 6.57E-06 | |
9499 | 7 | L/F | 8 | rs1060500573 | 0.2209 | None | gnomAD-4.0.0 | 3.10111E-06 | |
9499 | 7 | L/P | 8 | None | 0.2209 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9501 | 9 | E/D | 11 | None | 0.9555 | None | gnomAD-4.0.0 | 6.84502E-07 | |
9502 | 10 | T/A | 12 | rs368162634 | 0.4935 | None | gnomAD-3.1.2 | 6.57E-06 | |
9502 | 10 | T/A | 12 | rs368162634 | 0.4935 | None | gnomAD-4.0.0 | 3.0996E-06 | |
9503 | 11 | V/A | 13 | None | 0.3094 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9503 | 11 | V/I | 13 | rs202160275 | 0.3094 | None | gnomAD-2.1.1 | 3.42705E-04 | |
9503 | 11 | V/I | 13 | rs202160275 | 0.3094 | None | gnomAD-3.1.2 | 2.7604E-04 | |
9503 | 11 | V/I | 13 | rs202160275 | 0.3094 | None | gnomAD-4.0.0 | 2.38629E-04 | |
9504 | 12 | E/G | 14 | None | 0.5437 | None | gnomAD-4.0.0 | 1.59189E-06 | |
9507 | 15 | E/Q | 23 | None | 0.4007 | None | gnomAD-4.0.0 | 2.05297E-06 | |
9510 | 18 | S/T | 26 | rs2076392914 | 0.4719 | None | gnomAD-3.1.2 | 6.57E-06 | |
9510 | 18 | S/T | 26 | rs2076392914 | 0.4719 | None | gnomAD-4.0.0 | 6.56996E-06 | |
9510 | 18 | S/Y | 26 | rs753125248 | 0.4719 | None | gnomAD-2.1.1 | 8.03E-06 | |
9510 | 18 | S/Y | 26 | rs753125248 | 0.4719 | None | gnomAD-4.0.0 | 1.16329E-05 | |
9511 | 19 | F/L | 28 | None | 0.1813 | None | gnomAD-4.0.0 | 1.59145E-06 | |
9512 | 20 | K/E | 29 | None | 0.3733 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9513 | 21 | L/F | 30 | rs143420988 | 0.1511 | None | gnomAD-3.1.2 | 6.57E-06 | |
9513 | 21 | L/F | 30 | rs143420988 | 0.1511 | None | 1000 genomes | 1.99681E-04 | |
9513 | 21 | L/F | 30 | rs143420988 | 0.1511 | None | gnomAD-4.0.0 | 6.56616E-06 | |
9516 | 24 | R/C | 34 | rs751958797 | 0.5196 | None | gnomAD-2.1.1 | 2.85E-05 | |
9516 | 24 | R/C | 34 | rs751958797 | 0.5196 | None | gnomAD-3.1.2 | 1.31E-05 | |
9516 | 24 | R/C | 34 | rs751958797 | 0.5196 | None | gnomAD-4.0.0 | 2.72679E-05 | |
9516 | 24 | R/H | 34 | rs374156904 | 0.5196 | None | gnomAD-2.1.1 | 3.99395E-04 | |
9516 | 24 | R/H | 34 | rs374156904 | 0.5196 | None | gnomAD-3.1.2 | 2.23449E-04 | |
9516 | 24 | R/H | 34 | rs374156904 | 0.5196 | None | 1000 genomes | 1.19808E-03 | |
9516 | 24 | R/H | 34 | rs374156904 | 0.5196 | None | gnomAD-4.0.0 | 2.54062E-04 | |
9517 | 25 | V/A | 35 | None | 0.1380 | None | gnomAD-4.0.0 | 2.40065E-06 | |
9517 | 25 | V/M | 35 | None | 0.1380 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9518 | 26 | A/S | 38 | None | 0.4182 | None | gnomAD-4.0.0 | 1.59125E-06 | |
9519 | 27 | G/C | 40 | None | 0.4413 | None | gnomAD-4.0.0 | 1.59123E-06 | |
9519 | 27 | G/D | 40 | rs1166241741 | 0.4413 | None | gnomAD-4.0.0 | 1.59123E-06 | |
9521 | 29 | Q/E | 42 | None | 0.4706 | None | gnomAD-4.0.0 | 6.842E-07 | |
9521 | 29 | Q/L | 42 | None | 0.4706 | None | gnomAD-4.0.0 | 1.59113E-06 | |
9521 | 29 | Q/P | 42 | rs760280055 | 0.4706 | None | gnomAD-2.1.1 | 7.13E-06 | |
9521 | 29 | Q/P | 42 | rs760280055 | 0.4706 | None | gnomAD-3.1.2 | 6.57E-06 | |
9521 | 29 | Q/P | 42 | rs760280055 | 0.4706 | None | gnomAD-4.0.0 | 6.57117E-06 | |
9522 | 30 | P/L | 43 | None | 0.6986 | None | gnomAD-4.0.0 | 6.8419E-07 | |
9522 | 30 | P/R | 43 | None | 0.6986 | None | gnomAD-4.0.0 | 2.05257E-06 | |
9522 | 30 | P/S | 43 | None | 0.6986 | None | gnomAD-4.0.0 | 6.84194E-07 | |
9522 | 30 | P/T | 43 | None | 0.6986 | None | gnomAD-4.0.0 | 6.84195E-07 | |
9523 | 31 | I/L | 44 | rs775239068 | 0.1325 | None | gnomAD-2.1.1 | 4.01E-06 | |
9523 | 31 | I/T | 44 | rs2076388321 | 0.1325 | None | gnomAD-3.1.2 | 6.57E-06 | |
9523 | 31 | I/T | 44 | rs2076388321 | 0.1325 | None | gnomAD-4.0.0 | 6.40462E-06 | |
9523 | 31 | I/V | 44 | rs775239068 | 0.1325 | None | gnomAD-4.0.0 | 1.59108E-06 | |
9527 | 35 | W/G | 48 | None | 0.1328 | None | gnomAD-4.0.0 | 1.59106E-06 | |
9528 | 36 | Y/H | 49 | None | 0.1937 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9529 | 37 | K/N | 50 | rs876658049 | 0.1627 | None | gnomAD-4.0.0 | 2.40064E-06 | |
9531 | 39 | N/T | 52 | rs537464608 | 0.8725 | None | gnomAD-3.1.2 | 6.57E-06 | |
9531 | 39 | N/T | 52 | rs537464608 | 0.8725 | None | gnomAD-4.0.0 | 2.56183E-06 | |
9532 | 40 | I/M | 55 | rs749485243 | 0.7422 | None | gnomAD-2.1.1 | 4.01E-06 | |
9532 | 40 | I/M | 55 | rs749485243 | 0.7422 | None | gnomAD-4.0.0 | 6.84176E-07 | |
9532 | 40 | I/T | 55 | None | 0.7422 | None | gnomAD-4.0.0 | 2.05252E-06 | |
9532 | 40 | I/V | 55 | rs770782767 | 0.7422 | None | gnomAD-2.1.1 | 2.85E-05 | |
9532 | 40 | I/V | 55 | rs770782767 | 0.7422 | None | gnomAD-3.1.2 | 1.97E-05 | |
9532 | 40 | I/V | 55 | rs770782767 | 0.7422 | None | gnomAD-4.0.0 | 4.70932E-05 | |
9534 | 42 | I/L | 58 | rs1364084001 | 0.1794 | None | gnomAD-3.1.2 | 6.57E-06 | |
9534 | 42 | I/L | 58 | rs1364084001 | 0.1794 | None | gnomAD-4.0.0 | 6.57151E-06 | |
9534 | 42 | I/M | 58 | None | 0.1794 | None | gnomAD-4.0.0 | 6.84169E-07 | |
9534 | 42 | I/T | 58 | rs1420735083 | 0.1794 | None | gnomAD-2.1.1 | 4.01E-06 | |
9534 | 42 | I/T | 58 | rs1420735083 | 0.1794 | None | gnomAD-4.0.0 | 1.59106E-06 | |
9534 | 42 | I/V | 58 | None | 0.1794 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9535 | 43 | Q/K | 59 | rs778021049 | 0.5658 | None | gnomAD-2.1.1 | 1.2E-05 | |
9535 | 43 | Q/K | 59 | rs778021049 | 0.5658 | None | gnomAD-4.0.0 | 2.73669E-06 | |
9536 | 44 | P/L | 70 | None | 0.5322 | None | gnomAD-4.0.0 | 2.40064E-06 | |
9536 | 44 | P/T | 70 | rs201121983 | 0.5322 | None | gnomAD-2.1.1 | 2.01E-05 | |
9536 | 44 | P/T | 70 | rs201121983 | 0.5322 | None | gnomAD-3.1.2 | 3.94E-05 | |
9536 | 44 | P/T | 70 | rs201121983 | 0.5322 | None | 1000 genomes | 5.99042E-04 | |
9536 | 44 | P/T | 70 | rs201121983 | 0.5322 | None | gnomAD-4.0.0 | 3.96552E-05 | |
9537 | 45 | T/I | 73 | None | 0.4259 | None | gnomAD-4.0.0 | 2.40064E-06 | |
9538 | 46 | S/C | 102 | None | 0.8353 | None | gnomAD-4.0.0 | 1.59107E-06 | |
9538 | 46 | S/P | 102 | None | 0.8353 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9540 | 48 | C/W | 121 | None | 0.1623 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9540 | 48 | C/Y | 121 | rs1427971848 | 0.1623 | None | gnomAD-4.0.0 | 2.40064E-06 | |
9541 | 49 | E/K | 122 | rs2076382239 | 0.4769 | None | gnomAD-4.0.0 | 1.5911E-06 | |
9542 | 50 | I/V | 123 | rs1474085210 | 0.2442 | None | gnomAD-2.1.1 | 1.61E-05 | |
9542 | 50 | I/V | 123 | rs1474085210 | 0.2442 | None | gnomAD-3.1.2 | 3.94E-05 | |
9542 | 50 | I/V | 123 | rs1474085210 | 0.2442 | None | gnomAD-4.0.0 | 9.91435E-06 | |
9543 | 51 | T/I | 125 | rs752853962 | 0.4791 | None | gnomAD-2.1.1 | 8.03E-06 | |
9543 | 51 | T/I | 125 | rs752853962 | 0.4791 | None | gnomAD-4.0.0 | 4.10506E-06 | |
9546 | 54 | N/K | 131 | None | 0.8043 | None | gnomAD-4.0.0 | 2.40064E-06 | |
9546 | 54 | N/S | 131 | None | 0.8043 | None | gnomAD-4.0.0 | 1.59105E-06 | |
9546 | 54 | N/Y | 131 | None | 0.8043 | None | gnomAD-4.0.0 | 4.80129E-06 | |
9547 | 55 | N/K | 134 | rs727505185 | 0.4665 | None | gnomAD-2.1.1 | 4.01E-06 | |
9547 | 55 | N/K | 134 | rs727505185 | 0.4665 | None | gnomAD-4.0.0 | 1.59109E-06 | |
9548 | 56 | T/K | 135 | rs752064053 | 0.2140 | None | gnomAD-2.1.1 | 1.2E-05 | |
9548 | 56 | T/K | 135 | rs752064053 | 0.2140 | None | gnomAD-4.0.0 | 1.29993E-05 | |
9548 | 56 | T/M | 135 | rs752064053 | 0.2140 | None | gnomAD-2.1.1 | 2.85E-05 | |
9548 | 56 | T/M | 135 | rs752064053 | 0.2140 | None | gnomAD-3.1.2 | 2.63E-05 | |
9548 | 56 | T/M | 135 | rs752064053 | 0.2140 | None | gnomAD-4.0.0 | 9.29502E-06 | |
9549 | 57 | L/S | 136 | rs763448983 | 0.1081 | None | gnomAD-2.1.1 | 4.01E-06 | |
9549 | 57 | L/S | 136 | rs763448983 | 0.1081 | None | gnomAD-4.0.0 | 1.59108E-06 | |
9549 | 57 | L/V | 136 | None | 0.1081 | None | gnomAD-4.0.0 | 4.80129E-06 | |
9550 | 58 | V/L | 137 | rs879094573 | 0.1730 | None | gnomAD-2.1.1 | 4.01E-06 | |
9550 | 58 | V/L | 137 | rs879094573 | 0.1730 | None | gnomAD-4.0.0 | 2.05252E-06 | |
9550 | 58 | V/M | 137 | rs879094573 | 0.1730 | None | gnomAD-3.1.2 | 6.57E-06 | |
9550 | 58 | V/M | 137 | rs879094573 | 0.1730 | None | gnomAD-4.0.0 | 6.19653E-06 | |
9551 | 59 | L/P | 138 | None | 0.0888 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9553 | 61 | V/I | 140 | rs763879363 | 0.1022 | None | gnomAD-4.0.0 | 2.7367E-06 | |
9555 | 63 | K/T | 143 | rs760060633 | 0.7277 | None | gnomAD-2.1.1 | 4.01E-06 | |
9555 | 63 | K/T | 143 | rs760060633 | 0.7277 | None | gnomAD-4.0.0 | 1.59112E-06 | |
9556 | 64 | A/G | 144 | rs1060500482 | 0.1146 | None | gnomAD-2.1.1 | 4.01E-06 | |
9556 | 64 | A/G | 144 | rs1060500482 | 0.1146 | None | gnomAD-4.0.0 | 6.84186E-07 | |
9556 | 64 | A/T | 144 | rs1381808931 | 0.1146 | None | gnomAD-2.1.1 | 4.01E-06 | |
9556 | 64 | A/T | 144 | rs1381808931 | 0.1146 | None | gnomAD-4.0.0 | 1.36836E-06 | |
9556 | 64 | A/V | 144 | rs1060500482 | 0.1146 | None | gnomAD-2.1.1 | 4.01E-06 | |
9556 | 64 | A/V | 144 | rs1060500482 | 0.1146 | None | gnomAD-4.0.0 | 5.47349E-06 | |
9557 | 65 | G/D | 145 | None | 0.1924 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9557 | 65 | G/R | 145 | rs1560553033 | 0.1924 | None | gnomAD-2.1.1 | 4.01E-06 | |
9557 | 65 | G/R | 145 | rs1560553033 | 0.1924 | None | gnomAD-4.0.0 | 3.42091E-06 | |
9558 | 66 | M/I | 146 | rs868771235 | 0.3599 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9558 | 66 | M/V | 146 | None | 0.3599 | None | gnomAD-4.0.0 | 1.59111E-06 | |
9559 | 67 | N/D | 148 | None | 0.9112 | None | gnomAD-4.0.0 | 1.5911E-06 | |
9559 | 67 | N/K | 148 | None | 0.9112 | None | gnomAD-4.0.0 | 6.84181E-07 | |
9560 | 68 | D/E | 149 | rs377713076 | 0.2220 | None | gnomAD-2.1.1 | 4.01E-06 | |
9560 | 68 | D/E | 149 | rs377713076 | 0.2220 | None | gnomAD-4.0.0 | 6.84179E-07 | |
9560 | 68 | D/H | 149 | rs771843862 | 0.2220 | None | gnomAD-2.1.1 | 6.37E-05 | |
9560 | 68 | D/H | 149 | rs771843862 | 0.2220 | None | gnomAD-3.1.2 | 1.31E-05 | |
9560 | 68 | D/H | 149 | rs771843862 | 0.2220 | None | gnomAD-4.0.0 | 1.85897E-06 | |
9560 | 68 | D/N | 149 | rs771843862 | 0.2220 | None | gnomAD-2.1.1 | 1.3648E-04 | |
9560 | 68 | D/N | 149 | rs771843862 | 0.2220 | None | gnomAD-3.1.2 | 1.31E-05 | |
9560 | 68 | D/N | 149 | rs771843862 | 0.2220 | None | gnomAD-4.0.0 | 7.62176E-05 | |
9561 | 69 | A/T | 151 | rs373380202 | 0.2420 | None | gnomAD-2.1.1 | 3.57E-05 | |
9561 | 69 | A/T | 151 | rs373380202 | 0.2420 | None | gnomAD-3.1.2 | 1.11697E-04 | |
9561 | 69 | A/T | 151 | rs373380202 | 0.2420 | None | 1000 genomes | 1.99681E-04 | |
9561 | 69 | A/T | 151 | rs373380202 | 0.2420 | None | gnomAD-4.0.0 | 2.23061E-05 | |
9562 | 70 | G/S | 152 | rs1445369813 | 0.2157 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9563 | 71 | L/S | 153 | None | 0.5256 | None | gnomAD-4.0.0 | 6.84185E-07 | |
9563 | 71 | L/W | 153 | rs770692880 | 0.5256 | None | gnomAD-2.1.1 | 3.21E-05 | |
9563 | 71 | L/W | 153 | rs770692880 | 0.5256 | None | gnomAD-3.1.2 | 1.31E-05 | |
9563 | 71 | L/W | 153 | rs770692880 | 0.5256 | None | gnomAD-4.0.0 | 3.71786E-06 | |
9564 | 72 | Y/C | 154 | rs2076368966 | 0.1170 | None | gnomAD-3.1.2 | 6.57E-06 | |
9564 | 72 | Y/C | 154 | rs2076368966 | 0.1170 | None | gnomAD-4.0.0 | 6.5684E-06 | |
9565 | 73 | T/I | 155 | rs1423863240 | 0.2183 | None | gnomAD-2.1.1 | 6.37E-05 | |
9565 | 73 | T/I | 155 | rs1423863240 | 0.2183 | None | gnomAD-3.1.2 | 1.97E-05 | |
9565 | 73 | T/I | 155 | rs1423863240 | 0.2183 | None | gnomAD-4.0.0 | 3.71794E-06 | |
9565 | 73 | T/S | 155 | rs368995369 | 0.2183 | None | gnomAD-2.1.1 | 4.02E-06 | |
9565 | 73 | T/S | 155 | rs368995369 | 0.2183 | None | gnomAD-3.1.2 | 1.31E-05 | |
9565 | 73 | T/S | 155 | rs368995369 | 0.2183 | None | gnomAD-4.0.0 | 3.84266E-06 | |
9566 | 74 | C/R | 156 | None | 0.0644 | None | gnomAD-4.0.0 | 6.15772E-06 | |
9566 | 74 | C/S | 156 | None | 0.0644 | None | gnomAD-4.0.0 | 6.84191E-07 | |
9567 | 75 | K/N | 157 | rs2076366428 | 0.4104 | None | gnomAD-4.0.0 | 3.42098E-06 | |
9567 | 75 | K/T | 157 | rs770062038 | 0.4104 | None | gnomAD-2.1.1 | 4.02E-06 | |
9568 | 76 | V/A | 158 | None | 0.1068 | None | gnomAD-4.0.0 | 1.59133E-06 | |
9568 | 76 | V/L | 158 | rs1187950337 | 0.1068 | None | gnomAD-2.1.1 | 4.02E-06 | |
9568 | 76 | V/L | 158 | rs1187950337 | 0.1068 | None | gnomAD-4.0.0 | 1.59121E-06 | |
9570 | 78 | N/D | 161 | rs748118078 | 0.2091 | None | gnomAD-2.1.1 | 4.02E-06 | |
9570 | 78 | N/D | 161 | rs748118078 | 0.2091 | None | gnomAD-4.0.0 | 1.59131E-06 | |
9570 | 78 | N/S | 161 | rs727503641 | 0.2091 | None | gnomAD-2.1.1 | 8.04E-06 | |
9570 | 78 | N/S | 161 | rs727503641 | 0.2091 | None | gnomAD-3.1.2 | 1.31E-05 | |
9570 | 78 | N/S | 161 | rs727503641 | 0.2091 | None | gnomAD-4.0.0 | 1.30131E-05 | |
9572 | 80 | A/S | 163 | rs2076363568 | 0.8039 | None | gnomAD-4.0.0 | 6.84279E-07 | |
9572 | 80 | A/V | 163 | None | 0.8039 | None | gnomAD-4.0.0 | 1.59165E-06 | |
9574 | 82 | S/C | 165 | rs376276989 | 0.5419 | None | gnomAD-2.1.1 | 4.02E-06 | |
9574 | 82 | S/C | 165 | rs376276989 | 0.5419 | None | gnomAD-3.1.2 | 6.57E-06 | |
9574 | 82 | S/C | 165 | rs376276989 | 0.5419 | None | gnomAD-4.0.0 | 2.02972E-06 | |
9574 | 82 | S/F | 165 | rs376276989 | 0.5419 | None | gnomAD-4.0.0 | 2.40064E-06 | |
9576 | 84 | L/P | 168 | None | 0.6557 | None | gnomAD-4.0.0 | 6.84753E-07 | |
9576 | 84 | L/V | 168 | rs780753483 | 0.6557 | None | gnomAD-2.1.1 | 1.21E-05 | |
9576 | 84 | L/V | 168 | rs780753483 | 0.6557 | None | gnomAD-4.0.0 | 4.77628E-06 | |
9577 | 85 | C/G | 169 | rs1476712853 | 0.1388 | None | gnomAD-2.1.1 | 3.18E-05 | |
9577 | 85 | C/G | 169 | rs1476712853 | 0.1388 | None | gnomAD-3.1.2 | 6.57E-06 | |
9577 | 85 | C/G | 169 | rs1476712853 | 0.1388 | None | gnomAD-4.0.0 | 2.02974E-06 | |
9578 | 86 | T/A | 171 | rs1370314453 | 0.5137 | None | gnomAD-2.1.1 | 4.03E-06 | |
9578 | 86 | T/A | 171 | rs1370314453 | 0.5137 | None | gnomAD-4.0.0 | 1.59847E-06 | |
9578 | 86 | T/K | 171 | None | 0.5137 | None | gnomAD-4.0.0 | 6.85554E-07 | |
9578 | 86 | T/M | 171 | rs184923756 | 0.5137 | None | gnomAD-2.1.1 | 1.53731E-04 | |
9578 | 86 | T/M | 171 | rs184923756 | 0.5137 | None | gnomAD-3.1.2 | 2.62826E-04 | |
9578 | 86 | T/M | 171 | rs184923756 | 0.5137 | None | 1000 genomes | 1.99681E-04 | |
9578 | 86 | T/M | 171 | rs184923756 | 0.5137 | None | gnomAD-4.0.0 | 1.85601E-04 | |
9579 | 87 | S/P | 172 | None | 0.1232 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9580 | 88 | S/L | 173 | rs375212459 | 0.2969 | None | gnomAD-2.1.1 | 4.03E-06 | |
9580 | 88 | S/L | 173 | rs375212459 | 0.2969 | None | gnomAD-4.0.0 | 1.61279E-06 | |
9581 | 89 | I/T | 174 | None | 0.0840 | None | gnomAD-4.0.0 | 1.61211E-06 | |
9581 | 89 | I/V | 174 | rs371826762 | 0.0840 | None | gnomAD-2.1.1 | 1.64695E-04 | |
9581 | 89 | I/V | 174 | rs371826762 | 0.0840 | None | gnomAD-3.1.2 | 1.77342E-04 | |
9581 | 89 | I/V | 174 | rs371826762 | 0.0840 | None | gnomAD-4.0.0 | 1.79959E-04 | |
9582 | 90 | V/F | 175 | rs537805395 | 0.3702 | None | gnomAD-3.1.2 | 6.57E-06 | |
9582 | 90 | V/F | 175 | rs537805395 | 0.3702 | None | 1000 genomes | 1.99681E-04 | |
9582 | 90 | V/F | 175 | rs537805395 | 0.3702 | None | gnomAD-4.0.0 | 6.56806E-06 | |
9582 | 90 | V/I | 175 | rs537805395 | 0.3702 | None | gnomAD-2.1.1 | 1.62E-05 | |
9582 | 90 | V/I | 175 | rs537805395 | 0.3702 | None | gnomAD-4.0.0 | 1.58394E-05 | |
9583 | 91 | I/F | 177 | None | 0.1397 | None | gnomAD-4.0.0 | 6.89341E-07 | |
9583 | 91 | I/L | 177 | None | 0.1397 | None | gnomAD-4.0.0 | 6.89341E-07 | |
9583 | 91 | I/M | 177 | rs1219437440 | 0.1397 | None | gnomAD-2.1.1 | 3.18E-05 | |
9583 | 91 | I/M | 177 | rs1219437440 | 0.1397 | None | gnomAD-3.1.2 | 6.57E-06 | |
9583 | 91 | I/M | 177 | rs1219437440 | 0.1397 | None | gnomAD-4.0.0 | 6.56953E-06 |