10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
E | L | D | A | E | L | R | R | T | L | V | V | R | A | G | L | S | I | R | I | F | V | P | I | K | G | R | P | A | P | E | V | T | W | T | K | D | N | I | N | L | K | N | R | A | N | I | E | N | T | E | S | F | T | L | L | I | I | P | E | C | N | R | Y | D | T | G | K | F | V | M | T | I | E | N | P | A | G | K | K | S | G | F | V | N | V | R | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
23346 | 2 | L/I | 2 | None | 0.3136 | None | gnomAD-4.0.0 | 6.84332E-07 | |
23347 | 3 | D/G | 3 | rs1484649738 | 0.7718 | None | gnomAD-3.1.2 | 6.58E-06 | |
23347 | 3 | D/G | 3 | rs1484649738 | 0.7718 | None | gnomAD-4.0.0 | 6.57626E-06 | |
23347 | 3 | D/H | 3 | rs371752797 | 0.7718 | None | gnomAD-2.1.1 | 3.57E-05 | |
23347 | 3 | D/H | 3 | rs371752797 | 0.7718 | None | gnomAD-3.1.2 | 3.29E-05 | |
23347 | 3 | D/H | 3 | rs371752797 | 0.7718 | None | gnomAD-4.0.0 | 6.13619E-05 | |
23348 | 4 | A/T | 4 | rs775146212 | 0.4986 | None | gnomAD-2.1.1 | 1.28616E-04 | |
23348 | 4 | A/T | 4 | rs775146212 | 0.4986 | None | gnomAD-3.1.2 | 7.89E-05 | |
23348 | 4 | A/T | 4 | rs775146212 | 0.4986 | None | gnomAD-4.0.0 | 3.59475E-05 | |
23349 | 5 | E/D | 5 | rs774136558 | 0.8661 | None | gnomAD-2.1.1 | 3.57E-05 | |
23349 | 5 | E/D | 5 | rs774136558 | 0.8661 | None | gnomAD-3.1.2 | 1.32E-05 | |
23349 | 5 | E/D | 5 | rs774136558 | 0.8661 | None | gnomAD-4.0.0 | 5.57836E-06 | |
23349 | 5 | E/K | 5 | rs397517682 | 0.8661 | None | gnomAD-2.1.1 | 1.07E-05 | |
23349 | 5 | E/K | 5 | rs397517682 | 0.8661 | None | gnomAD-3.1.2 | 6.58E-06 | |
23349 | 5 | E/K | 5 | rs397517682 | 0.8661 | None | gnomAD-4.0.0 | 4.95879E-06 | |
23350 | 6 | L/F | 7 | rs1390481050 | 0.2207 | None | gnomAD-2.1.1 | 4.02E-06 | |
23350 | 6 | L/F | 7 | rs1390481050 | 0.2207 | None | gnomAD-4.0.0 | 2.05299E-06 | |
23351 | 7 | R/L | 8 | rs376046188 | 0.4907 | None | gnomAD-2.1.1 | 4.02E-06 | |
23351 | 7 | R/L | 8 | rs376046188 | 0.4907 | None | gnomAD-4.0.0 | 1.36864E-06 | |
23351 | 7 | R/P | 8 | None | 0.4907 | None | gnomAD-4.0.0 | 6.84318E-07 | |
23351 | 7 | R/Q | 8 | rs376046188 | 0.4907 | None | gnomAD-2.1.1 | 2.41E-05 | |
23351 | 7 | R/Q | 8 | rs376046188 | 0.4907 | None | gnomAD-3.1.2 | 1.32E-05 | |
23351 | 7 | R/Q | 8 | rs376046188 | 0.4907 | None | gnomAD-4.0.0 | 8.6772E-06 | |
23352 | 8 | R/G | 9 | rs755983483 | 0.7810 | None | gnomAD-2.1.1 | 4.02E-06 | |
23352 | 8 | R/G | 9 | rs755983483 | 0.7810 | None | gnomAD-4.0.0 | 1.36862E-06 | |
23352 | 8 | R/I | 9 | None | 0.7810 | None | gnomAD-4.0.0 | 6.84313E-07 | |
23352 | 8 | R/K | 9 | rs555933077 | 0.7810 | None | gnomAD-2.1.1 | 1.61E-05 | |
23352 | 8 | R/K | 9 | rs555933077 | 0.7810 | None | gnomAD-3.1.2 | 6.58E-06 | |
23352 | 8 | R/K | 9 | rs555933077 | 0.7810 | None | 1000 genomes | 1.99681E-04 | |
23352 | 8 | R/K | 9 | rs555933077 | 0.7810 | None | gnomAD-4.0.0 | 6.15882E-06 | |
23353 | 9 | T/I | 11 | rs1709976943 | 0.3557 | None | gnomAD-3.1.2 | 6.58E-06 | |
23353 | 9 | T/I | 11 | rs1709976943 | 0.3557 | None | gnomAD-4.0.0 | 6.57678E-06 | |
23354 | 10 | L/P | 13 | None | 0.3412 | None | gnomAD-4.0.0 | 1.59181E-06 | |
23354 | 10 | L/R | 13 | None | 0.3412 | None | gnomAD-4.0.0 | 1.59181E-06 | |
23355 | 11 | V/F | 14 | rs1249051519 | 0.3588 | None | gnomAD-4.0.0 | 4.10584E-06 | |
23355 | 11 | V/I | 14 | rs1249051519 | 0.3588 | None | gnomAD-2.1.1 | 4.02E-06 | |
23355 | 11 | V/I | 14 | rs1249051519 | 0.3588 | None | gnomAD-4.0.0 | 6.84306E-07 | |
23355 | 11 | V/L | 14 | None | 0.3588 | None | gnomAD-4.0.0 | 6.84306E-07 | |
23356 | 12 | V/I | 16 | rs1207836218 | 0.1757 | None | gnomAD-2.1.1 | 4.02E-06 | |
23356 | 12 | V/I | 16 | rs1207836218 | 0.1757 | None | gnomAD-4.0.0 | 6.36697E-06 | |
23357 | 13 | R/K | 18 | rs375401995 | 0.7095 | None | gnomAD-2.1.1 | 4.02E-06 | |
23357 | 13 | R/T | 18 | rs375401995 | 0.7095 | None | gnomAD-2.1.1 | 8.05E-06 | |
23357 | 13 | R/T | 18 | rs375401995 | 0.7095 | None | gnomAD-3.1.2 | 6.58E-06 | |
23357 | 13 | R/T | 18 | rs375401995 | 0.7095 | None | gnomAD-4.0.0 | 8.05747E-06 | |
23360 | 16 | L/F | 25 | None | 0.5677 | None | gnomAD-4.0.0 | 6.84307E-06 | |
23361 | 17 | S/G | 26 | rs751707858 | 0.3338 | None | gnomAD-2.1.1 | 4.02E-06 | |
23361 | 17 | S/G | 26 | rs751707858 | 0.3338 | None | gnomAD-3.1.2 | 6.57E-06 | |
23361 | 17 | S/G | 26 | rs751707858 | 0.3338 | None | gnomAD-4.0.0 | 3.09898E-06 | |
23361 | 17 | S/N | 26 | rs1433418101 | 0.3338 | None | gnomAD-4.0.0 | 1.5918E-06 | |
23361 | 17 | S/R | 26 | None | 0.3338 | None | gnomAD-4.0.0 | 6.84312E-07 | |
23362 | 18 | I/L | 28 | rs372048460 | 0.1324 | None | gnomAD-2.1.1 | 4.02E-06 | |
23362 | 18 | I/L | 28 | rs372048460 | 0.1324 | None | gnomAD-4.0.0 | 5.47447E-06 | |
23362 | 18 | I/T | 28 | rs750943570 | 0.1324 | None | gnomAD-2.1.1 | 4.02E-06 | |
23362 | 18 | I/T | 28 | rs750943570 | 0.1324 | None | gnomAD-4.0.0 | 2.05292E-06 | |
23364 | 20 | I/L | 30 | rs1709965793 | 0.1335 | None | gnomAD-4.0.0 | 2.05294E-06 | |
23366 | 22 | V/A | 33 | rs372782502 | 0.1455 | None | gnomAD-2.1.1 | 3.01745E-04 | |
23366 | 22 | V/A | 33 | rs372782502 | 0.1455 | None | gnomAD-3.1.2 | 5.26E-05 | |
23366 | 22 | V/A | 33 | rs372782502 | 0.1455 | None | 1000 genomes | 9.98403E-04 | |
23366 | 22 | V/A | 33 | rs372782502 | 0.1455 | None | gnomAD-4.0.0 | 1.12193E-04 | |
23366 | 22 | V/E | 33 | rs372782502 | 0.1455 | None | gnomAD-2.1.1 | 3.19E-05 | |
23366 | 22 | V/E | 33 | rs372782502 | 0.1455 | None | gnomAD-3.1.2 | 6.58E-06 | |
23366 | 22 | V/E | 33 | rs372782502 | 0.1455 | None | gnomAD-4.0.0 | 1.23979E-06 | |
23366 | 22 | V/M | 33 | rs1238454141 | 0.1455 | None | gnomAD-2.1.1 | 4.02E-06 | |
23366 | 22 | V/M | 33 | rs1238454141 | 0.1455 | None | gnomAD-4.0.0 | 4.77649E-06 | |
23367 | 23 | P/L | 34 | None | 0.4004 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23368 | 24 | I/N | 35 | None | 0.1605 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23368 | 24 | I/V | 35 | rs367914610 | 0.1605 | None | gnomAD-2.1.1 | 9.65E-05 | |
23368 | 24 | I/V | 35 | rs367914610 | 0.1605 | None | gnomAD-3.1.2 | 5.26E-05 | |
23368 | 24 | I/V | 35 | rs367914610 | 0.1605 | None | gnomAD-4.0.0 | 8.98834E-05 | |
23369 | 25 | K/E | 38 | rs1277463353 | 1.0201 | None | gnomAD-4.0.0 | 1.59238E-06 | |
23370 | 26 | G/D | 40 | rs1372713604 | 0.3272 | None | gnomAD-3.1.2 | 6.58E-06 | |
23370 | 26 | G/D | 40 | rs1372713604 | 0.3272 | None | gnomAD-4.0.0 | 1.23988E-06 | |
23371 | 27 | R/C | 41 | rs56141309 | 0.6898 | None | gnomAD-2.1.1 | 8.05E-06 | |
23371 | 27 | R/C | 41 | rs56141309 | 0.6898 | None | gnomAD-3.1.2 | 6.58E-06 | |
23371 | 27 | R/C | 41 | rs56141309 | 0.6898 | None | gnomAD-4.0.0 | 6.41267E-06 | |
23371 | 27 | R/H | 41 | rs767208489 | 0.6898 | None | gnomAD-2.1.1 | 8.05E-06 | |
23371 | 27 | R/H | 41 | rs767208489 | 0.6898 | None | gnomAD-3.1.2 | 2.63E-05 | |
23371 | 27 | R/H | 41 | rs767208489 | 0.6898 | None | gnomAD-4.0.0 | 9.92059E-06 | |
23371 | 27 | R/P | 41 | rs767208489 | 0.6898 | None | gnomAD-3.1.2 | 6.58E-06 | |
23371 | 27 | R/P | 41 | rs767208489 | 0.6898 | None | gnomAD-4.0.0 | 4.96029E-06 | |
23371 | 27 | R/S | 41 | None | 0.6898 | None | gnomAD-4.0.0 | 3.18647E-06 | |
23372 | 28 | P/L | 42 | rs1709955188 | 0.4993 | None | gnomAD-4.0.0 | 1.59332E-06 | |
23373 | 29 | A/V | 43 | None | 0.4122 | None | gnomAD-4.0.0 | 2.40064E-06 | |
23374 | 30 | P/H | 44 | None | 0.2242 | None | gnomAD-4.0.0 | 2.05417E-06 | |
23378 | 34 | W/R | 48 | rs1709952392 | 0.1820 | None | gnomAD-4.0.0 | 6.84881E-07 | |
23378 | 34 | W/S | 48 | rs1172742481 | 0.1820 | None | gnomAD-2.1.1 | 4.03E-06 | |
23378 | 34 | W/S | 48 | rs1172742481 | 0.1820 | None | gnomAD-4.0.0 | 1.59514E-06 | |
23379 | 35 | T/A | 49 | None | 0.2479 | None | gnomAD-4.0.0 | 1.59481E-06 | |
23379 | 35 | T/I | 49 | rs773975500 | 0.2479 | None | gnomAD-2.1.1 | 2.42E-05 | |
23379 | 35 | T/I | 49 | rs773975500 | 0.2479 | None | gnomAD-4.0.0 | 6.84935E-06 | |
23380 | 36 | K/R | 50 | None | 0.1414 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23381 | 37 | D/N | 51 | rs1559456668 | 0.6228 | None | gnomAD-4.0.0 | 3.19209E-06 | |
23382 | 38 | N/D | 52 | None | 0.9738 | None | gnomAD-4.0.0 | 1.59643E-06 | |
23383 | 39 | I/M | 55 | None | 0.6696 | None | gnomAD-4.0.0 | 1.59681E-06 | |
23383 | 39 | I/N | 55 | rs1197503879 | 0.6696 | None | gnomAD-3.1.2 | 6.58E-06 | |
23383 | 39 | I/N | 55 | rs1197503879 | 0.6696 | None | gnomAD-4.0.0 | 1.24111E-06 | |
23383 | 39 | I/T | 55 | None | 0.6696 | None | gnomAD-4.0.0 | 6.85202E-07 | |
23383 | 39 | I/V | 55 | rs773301754 | 0.6696 | None | gnomAD-2.1.1 | 8.05E-06 | |
23383 | 39 | I/V | 55 | rs773301754 | 0.6696 | None | gnomAD-4.0.0 | 3.19286E-06 | |
23385 | 41 | L/M | 58 | rs769672151 | 0.1481 | None | gnomAD-2.1.1 | 4.02E-06 | |
23385 | 41 | L/M | 58 | rs769672151 | 0.1481 | None | gnomAD-4.0.0 | 6.85221E-07 | |
23385 | 41 | L/P | 58 | rs747995899 | 0.1481 | None | gnomAD-2.1.1 | 4.02E-06 | |
23385 | 41 | L/P | 58 | rs747995899 | 0.1481 | None | gnomAD-4.0.0 | 2.74122E-06 | |
23385 | 41 | L/V | 58 | rs769672151 | 0.1481 | None | gnomAD-2.1.1 | 4.02E-06 | |
23385 | 41 | L/V | 58 | rs769672151 | 0.1481 | None | gnomAD-4.0.0 | 1.37044E-06 | |
23387 | 43 | N/K | 70 | None | 1.0655 | None | gnomAD-4.0.0 | 4.79114E-06 | |
23388 | 44 | R/G | 73 | rs781540455 | 0.2744 | None | gnomAD-2.1.1 | 7.15E-06 | |
23388 | 44 | R/G | 73 | rs781540455 | 0.2744 | None | gnomAD-3.1.2 | 1.97E-05 | |
23388 | 44 | R/G | 73 | rs781540455 | 0.2744 | None | gnomAD-4.0.0 | 6.20683E-06 | |
23388 | 44 | R/Q | 73 | rs55853138 | 0.2744 | None | gnomAD-2.1.1 | 6.07E-05 | |
23388 | 44 | R/Q | 73 | rs55853138 | 0.2744 | None | gnomAD-3.1.2 | 7.23E-05 | |
23388 | 44 | R/Q | 73 | rs55853138 | 0.2744 | None | gnomAD-4.0.0 | 6.33061E-05 | |
23389 | 45 | A/G | 121 | rs1194442496 | 0.1289 | None | gnomAD-3.1.2 | 1.32E-05 | |
23389 | 45 | A/G | 121 | rs1194442496 | 0.1289 | None | gnomAD-4.0.0 | 1.31543E-05 | |
23389 | 45 | A/T | 121 | rs1709937178 | 0.1289 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23390 | 46 | N/H | 122 | None | 0.7445 | None | gnomAD-4.0.0 | 1.59651E-06 | |
23390 | 46 | N/S | 122 | rs747202126 | 0.7445 | None | gnomAD-2.1.1 | 4.02E-06 | |
23390 | 46 | N/S | 122 | rs747202126 | 0.7445 | None | gnomAD-4.0.0 | 2.05553E-06 | |
23391 | 47 | I/M | 123 | rs1376271320 | 0.2705 | None | gnomAD-2.1.1 | 3.19E-05 | |
23391 | 47 | I/M | 123 | rs1376271320 | 0.2705 | None | gnomAD-4.0.0 | 1.59691E-06 | |
23391 | 47 | I/N | 123 | None | 0.2705 | None | gnomAD-4.0.0 | 6.85241E-07 | |
23391 | 47 | I/T | 123 | rs375202101 | 0.2705 | None | gnomAD-2.1.1 | 2.5E-05 | |
23391 | 47 | I/T | 123 | rs375202101 | 0.2705 | None | gnomAD-3.1.2 | 5.92E-05 | |
23391 | 47 | I/T | 123 | rs375202101 | 0.2705 | None | gnomAD-4.0.0 | 2.29615E-05 | |
23393 | 49 | N/K | 127 | rs1040909022 | 0.4871 | None | gnomAD-4.0.0 | 1.59653E-06 | |
23393 | 49 | N/T | 127 | rs1709929760 | 0.4871 | None | gnomAD-3.1.2 | 1.31E-05 | |
23393 | 49 | N/T | 127 | rs1709929760 | 0.4871 | None | gnomAD-4.0.0 | 1.31463E-05 | |
23394 | 50 | T/A | 130 | None | 0.2812 | None | gnomAD-4.0.0 | 1.59623E-06 | |
23394 | 50 | T/M | 130 | rs397517683 | 0.2812 | None | gnomAD-2.1.1 | 2.41E-05 | |
23394 | 50 | T/M | 130 | rs397517683 | 0.2812 | None | gnomAD-3.1.2 | 1.32E-05 | |
23394 | 50 | T/M | 130 | rs397517683 | 0.2812 | None | gnomAD-4.0.0 | 3.16485E-05 | |
23397 | 53 | F/C | 135 | rs1409813527 | 0.2127 | None | gnomAD-4.0.0 | 7.53357E-06 | |
23397 | 53 | F/L | 135 | rs1445569607 | 0.2127 | None | gnomAD-2.1.1 | 4.02E-06 | |
23397 | 53 | F/L | 135 | rs1445569607 | 0.2127 | None | gnomAD-4.0.0 | 1.59584E-06 | |
23398 | 54 | T/N | 136 | None | 0.1017 | None | gnomAD-4.0.0 | 6.84825E-07 | |
23398 | 54 | T/S | 136 | rs1709923349 | 0.1017 | None | gnomAD-4.0.0 | 1.36965E-06 | |
23402 | 58 | I/T | 140 | None | 0.0901 | None | gnomAD-4.0.0 | 2.73739E-06 | |
23403 | 59 | P/S | 141 | rs1399743496 | 0.4462 | None | gnomAD-4.0.0 | 1.59203E-06 | |
23405 | 61 | C/S | 144 | rs1709915221 | 0.0787 | None | gnomAD-3.1.2 | 6.58E-06 | |
23405 | 61 | C/S | 144 | rs1709915221 | 0.0787 | None | gnomAD-4.0.0 | 6.57523E-06 | |
23406 | 62 | N/K | 145 | rs757600380 | 0.3024 | None | gnomAD-4.0.0 | 1.59168E-06 | |
23407 | 63 | R/K | 146 | rs1417805989 | 0.6289 | None | gnomAD-2.1.1 | 4.02E-06 | |
23407 | 63 | R/K | 146 | rs1417805989 | 0.6289 | None | gnomAD-4.0.0 | 3.18337E-06 | |
23408 | 64 | Y/C | 148 | None | 0.7597 | None | gnomAD-4.0.0 | 1.59164E-06 | |
23408 | 64 | Y/H | 148 | rs754261585 | 0.7597 | None | gnomAD-2.1.1 | 4.02E-06 | |
23408 | 64 | Y/H | 148 | rs754261585 | 0.7597 | None | gnomAD-4.0.0 | 2.05284E-06 | |
23409 | 65 | D/G | 149 | rs1709909119 | 0.1420 | None | gnomAD-4.0.0 | 1.7107E-05 | |
23410 | 66 | T/N | 151 | rs1473979874 | 0.3304 | None | gnomAD-2.1.1 | 4.02E-06 | |
23410 | 66 | T/N | 151 | rs1473979874 | 0.3304 | None | gnomAD-4.0.0 | 1.36855E-06 | |
23411 | 67 | G/S | 152 | rs767075037 | 0.2150 | None | gnomAD-2.1.1 | 8.04E-06 | |
23411 | 67 | G/S | 152 | rs767075037 | 0.2150 | None | gnomAD-3.1.2 | 6.58E-06 | |
23411 | 67 | G/S | 152 | rs767075037 | 0.2150 | None | gnomAD-4.0.0 | 9.29723E-06 | |
23414 | 70 | V/F | 155 | rs759158138 | 0.2490 | None | gnomAD-2.1.1 | 1.21E-05 | |
23414 | 70 | V/F | 155 | rs759158138 | 0.2490 | None | gnomAD-4.0.0 | 4.77493E-06 | |
23415 | 71 | M/L | 156 | rs200029470 | 0.1324 | None | gnomAD-2.1.1 | 8.04E-06 | |
23415 | 71 | M/L | 156 | rs200029470 | 0.1324 | None | gnomAD-3.1.2 | 1.97E-05 | |
23415 | 71 | M/L | 156 | rs200029470 | 0.1324 | None | gnomAD-4.0.0 | 1.05354E-05 | |
23415 | 71 | M/T | 156 | rs765861604 | 0.1324 | None | gnomAD-2.1.1 | 4.02E-06 | |
23415 | 71 | M/T | 156 | rs765861604 | 0.1324 | None | gnomAD-4.0.0 | 4.7749E-06 | |
23416 | 72 | T/N | 157 | rs762398059 | 0.2121 | None | gnomAD-2.1.1 | 4.02E-06 | |
23416 | 72 | T/N | 157 | rs762398059 | 0.2121 | None | gnomAD-4.0.0 | 1.59168E-06 | |
23417 | 73 | I/T | 158 | rs201836227 | 0.2459 | None | gnomAD-2.1.1 | 3.14059E-04 | |
23417 | 73 | I/T | 158 | rs201836227 | 0.2459 | None | gnomAD-3.1.2 | 7.43382E-04 | |
23417 | 73 | I/T | 158 | rs201836227 | 0.2459 | None | 1000 genomes | 3.99361E-04 | |
23417 | 73 | I/T | 158 | rs201836227 | 0.2459 | None | gnomAD-4.0.0 | 1.58661E-04 | |
23418 | 74 | E/K | 159 | None | 0.3831 | None | gnomAD-4.0.0 | 2.05285E-06 | |
23419 | 75 | N/H | 161 | None | 0.1952 | None | gnomAD-4.0.0 | 2.40064E-06 | |
23419 | 75 | N/I | 161 | None | 0.1952 | None | gnomAD-4.0.0 | 1.59169E-06 | |
23419 | 75 | N/K | 161 | rs374496130 | 0.1952 | None | gnomAD-4.0.0 | 6.84284E-07 | |
23420 | 76 | P/L | 162 | rs776633672 | 0.7071 | None | gnomAD-2.1.1 | 3.22E-05 | |
23420 | 76 | P/L | 162 | rs776633672 | 0.7071 | None | gnomAD-3.1.2 | 1.97E-05 | |
23420 | 76 | P/L | 162 | rs776633672 | 0.7071 | None | gnomAD-4.0.0 | 1.17766E-05 | |
23422 | 78 | G/R | 164 | rs780170483 | 0.3528 | None | gnomAD-2.1.1 | 4.02E-06 | |
23422 | 78 | G/R | 164 | rs780170483 | 0.3528 | None | gnomAD-3.1.2 | 6.58E-06 | |
23422 | 78 | G/R | 164 | rs780170483 | 0.3528 | None | gnomAD-4.0.0 | 6.57609E-06 | |
23423 | 79 | K/R | 165 | None | 0.4933 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23424 | 80 | K/T | 166 | None | 0.7922 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23425 | 81 | S/C | 168 | rs566232507 | 0.5062 | None | gnomAD-2.1.1 | 4.02E-06 | |
23425 | 81 | S/C | 168 | rs566232507 | 0.5062 | None | gnomAD-3.1.2 | 6.58E-06 | |
23425 | 81 | S/C | 168 | rs566232507 | 0.5062 | None | 1000 genomes | 1.99681E-04 | |
23425 | 81 | S/C | 168 | rs566232507 | 0.5062 | None | gnomAD-4.0.0 | 3.84388E-06 | |
23425 | 81 | S/I | 168 | rs980974415 | 0.5062 | None | gnomAD-3.1.2 | 6.58E-06 | |
23425 | 81 | S/I | 168 | rs980974415 | 0.5062 | None | gnomAD-4.0.0 | 6.57523E-06 | |
23425 | 81 | S/N | 168 | None | 0.5062 | None | gnomAD-4.0.0 | 1.59167E-06 | |
23425 | 81 | S/T | 168 | rs980974415 | 0.5062 | None | gnomAD-4.0.0 | 1.11417E-05 | |
23426 | 82 | G/A | 169 | None | 0.3048 | None | gnomAD-4.0.0 | 1.59168E-06 | |
23426 | 82 | G/V | 169 | None | 0.3048 | None | gnomAD-4.0.0 | 1.59168E-06 | |
23427 | 83 | F/S | 171 | None | 0.4822 | None | gnomAD-4.0.0 | 1.5917E-06 | |
23427 | 83 | F/Y | 171 | rs779382645 | 0.4822 | None | gnomAD-2.1.1 | 4.02E-06 | |
23428 | 84 | V/L | 172 | rs794729486 | 0.1497 | None | gnomAD-2.1.1 | 3.19E-05 | |
23428 | 84 | V/L | 172 | rs794729486 | 0.1497 | None | gnomAD-3.1.2 | 6.57E-06 | |
23428 | 84 | V/L | 172 | rs794729486 | 0.1497 | None | gnomAD-4.0.0 | 3.04504E-06 | |
23429 | 85 | N/I | 173 | None | 0.3906 | None | gnomAD-4.0.0 | 1.20032E-06 | |
23429 | 85 | N/Y | 173 | None | 0.3906 | None | gnomAD-4.0.0 | 2.73717E-06 | |
23430 | 86 | V/F | 174 | rs549709481 | 0.1127 | None | gnomAD-2.1.1 | 4.02E-06 | |
23430 | 86 | V/F | 174 | rs549709481 | 0.1127 | None | gnomAD-4.0.0 | 2.73721E-06 | |
23430 | 86 | V/I | 174 | rs549709481 | 0.1127 | None | gnomAD-2.1.1 | 3.93E-05 | |
23430 | 86 | V/I | 174 | rs549709481 | 0.1127 | None | gnomAD-3.1.2 | 5.92E-05 | |
23430 | 86 | V/I | 174 | rs549709481 | 0.1127 | None | 1000 genomes | 1.99681E-04 | |
23430 | 86 | V/I | 174 | rs549709481 | 0.1127 | None | gnomAD-4.0.0 | 4.71014E-05 | |
23432 | 88 | V/G | 177 | None | 0.1496 | None | gnomAD-4.0.0 | 1.20032E-06 |