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T | P | G | P | P | I | N | F | V | F | E | D | I | R | K | T | S | V | L | C | K | W | E | P | P | L | D | D | G | G | S | E | I | I | N | Y | T | L | E | K | K | D | K | T | K | P | D | S | E | W | I | V | V | T | S | T | L | R | H | C | K | Y | S | V | T | K | L | I | E | G | K | E | Y | L | F | R | V | R | A | E | N | R | F | G | P | G | P | P | C | V | S | K | P | L | V | A | K | D | P | F | G | P | P | D | A | P | D | K | P | I | V | E | D | V | T | S | N | S | M | L | V | K | W | N | E | P | K | D | N | G | S | P | I | L | G | Y | W | L | E | K | R | E | V | N | S | T | H | W | S | R | V | N | K | S | L | L | N | A | L | K | A | N | V | D | G | L | L | E | G | L | T | Y | V | F | R | V | C | A | E | N | A | A | G | P | G | K | F | S | P | P | S | D | P | K | T | A | H | D | P |
T | P | G | P | P | I | N | F | V | F | E | D | I | R | K | T | S | V | L | C | K | W | E | P | P | L | D | D | G | G | S | E | I | I | N | Y | T | L | E | K | K | D | K | T | K | P | D | S | E | W | I | V | V | T | S | T | L | R | H | C | K | Y | S | V | T | K | L | I | E | G | K | E | Y | L | F | R | V | R | A | E | N | R | F | G | P | G | P | P | C | V | S | K | P | L | V | A | K | D | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
17370 | 2 | P/A | 2 | None | 0.1278 | None | gnomAD-4.0.0 | 6.86945E-07 | |
17370 | 2 | P/L | 2 | rs773071032 | 0.1278 | None | gnomAD-2.1.1 | 1.82E-05 | |
17370 | 2 | P/L | 2 | rs773071032 | 0.1278 | None | gnomAD-3.1.2 | 6.58E-06 | |
17370 | 2 | P/L | 2 | rs773071032 | 0.1278 | None | gnomAD-4.0.0 | 1.05754E-05 | |
17371 | 3 | G/E | 3 | rs794729455 | 0.2261 | None | gnomAD-4.0.0 | 1.37356E-05 | |
17371 | 3 | G/V | 3 | None | 0.2261 | None | gnomAD-4.0.0 | 2.74713E-06 | |
17372 | 4 | P/R | 4 | None | 0.3943 | None | gnomAD-4.0.0 | 2.05925E-06 | |
17372 | 4 | P/S | 4 | rs2055579042 | 0.3943 | None | gnomAD-3.1.2 | 6.58E-06 | |
17372 | 4 | P/S | 4 | rs2055579042 | 0.3943 | None | gnomAD-4.0.0 | 6.58215E-06 | |
17372 | 4 | P/T | 4 | None | 0.3943 | None | gnomAD-4.0.0 | 1.37295E-06 | |
17375 | 7 | N/Y | 7 | rs1196364304 | 0.5261 | None | gnomAD-2.1.1 | 4.06E-06 | |
17375 | 7 | N/Y | 7 | rs1196364304 | 0.5261 | None | gnomAD-4.0.0 | 3.19963E-06 | |
17376 | 8 | F/L | 9 | rs761660658 | 0.1977 | None | gnomAD-2.1.1 | 3.19E-05 | |
17376 | 8 | F/L | 9 | rs761660658 | 0.1977 | None | gnomAD-3.1.2 | 1.32E-05 | |
17376 | 8 | F/L | 9 | rs761660658 | 0.1977 | None | gnomAD-4.0.0 | 5.14467E-06 | |
17378 | 10 | F/L | 12 | rs776588807 | 0.2532 | None | gnomAD-2.1.1 | 4.05E-06 | |
17378 | 10 | F/L | 12 | rs776588807 | 0.2532 | None | gnomAD-4.0.0 | 6.85454E-07 | |
17378 | 10 | F/V | 12 | None | 0.2532 | None | gnomAD-4.0.0 | 6.85454E-07 | |
17378 | 10 | F/Y | 12 | rs2055574620 | 0.2532 | None | gnomAD-3.1.2 | 6.58E-06 | |
17378 | 10 | F/Y | 12 | rs2055574620 | 0.2532 | None | gnomAD-4.0.0 | 2.03025E-06 | |
17379 | 11 | E/G | 13 | rs1323809346 | 0.3769 | None | gnomAD-2.1.1 | 1.21E-05 | |
17379 | 11 | E/G | 13 | rs1323809346 | 0.3769 | None | gnomAD-3.1.2 | 6.58E-06 | |
17379 | 11 | E/G | 13 | rs1323809346 | 0.3769 | None | gnomAD-4.0.0 | 3.8559E-06 | |
17379 | 11 | E/Q | 13 | rs770795675 | 0.3769 | None | gnomAD-2.1.1 | 1.21E-05 | |
17379 | 11 | E/Q | 13 | rs770795675 | 0.3769 | None | gnomAD-3.1.2 | 6.58E-06 | |
17379 | 11 | E/Q | 13 | rs770795675 | 0.3769 | None | gnomAD-4.0.0 | 1.67598E-05 | |
17380 | 12 | D/G | 14 | rs373305248 | 0.7572 | None | gnomAD-2.1.1 | 8.09E-06 | |
17380 | 12 | D/G | 14 | rs373305248 | 0.7572 | None | gnomAD-3.1.2 | 6.58E-06 | |
17380 | 12 | D/G | 14 | rs373305248 | 0.7572 | None | gnomAD-4.0.0 | 2.48228E-06 | |
17380 | 12 | D/N | 14 | rs886042593 | 0.7572 | None | gnomAD-3.1.2 | 1.32E-05 | |
17380 | 12 | D/N | 14 | rs886042593 | 0.7572 | None | gnomAD-4.0.0 | 1.316E-05 | |
17380 | 12 | D/V | 14 | rs373305248 | 0.7572 | None | gnomAD-2.1.1 | 7.18E-05 | |
17380 | 12 | D/V | 14 | rs373305248 | 0.7572 | None | gnomAD-3.1.2 | 7.24E-05 | |
17380 | 12 | D/V | 14 | rs373305248 | 0.7572 | None | gnomAD-4.0.0 | 9.30923E-05 | |
17381 | 13 | I/M | 15 | rs2154197961 | 0.3386 | None | gnomAD-4.0.0 | 3.19387E-06 | |
17381 | 13 | I/T | 15 | rs775637498 | 0.3386 | None | gnomAD-2.1.1 | 1.44E-05 | |
17381 | 13 | I/T | 15 | rs775637498 | 0.3386 | None | gnomAD-3.1.2 | 1.97E-05 | |
17381 | 13 | I/T | 15 | rs775637498 | 0.3386 | None | gnomAD-4.0.0 | 7.4477E-06 | |
17382 | 14 | R/G | 16 | rs397517607 | 0.2858 | None | gnomAD-2.1.1 | 2.7264E-04 | |
17382 | 14 | R/G | 16 | rs397517607 | 0.2858 | None | gnomAD-3.1.2 | 3.95E-05 | |
17382 | 14 | R/G | 16 | rs397517607 | 0.2858 | None | gnomAD-4.0.0 | 1.39624E-04 | |
17382 | 14 | R/S | 16 | None | 0.2858 | None | gnomAD-4.0.0 | 1.59655E-06 | |
17383 | 15 | K/E | 17 | None | 0.3846 | None | gnomAD-4.0.0 | 6.85179E-07 | |
17384 | 16 | T/N | 18 | rs1307047586 | 0.4415 | None | gnomAD-2.1.1 | 4.04E-06 | |
17384 | 16 | T/N | 18 | rs1307047586 | 0.4415 | None | gnomAD-4.0.0 | 4.11044E-06 | |
17384 | 16 | T/S | 18 | None | 0.4415 | None | gnomAD-4.0.0 | 6.85074E-07 | |
17385 | 17 | S/L | 19 | rs749493479 | 0.2314 | None | gnomAD-2.1.1 | 8.07E-06 | |
17385 | 17 | S/L | 19 | rs749493479 | 0.2314 | None | gnomAD-4.0.0 | 3.19139E-06 | |
17386 | 18 | V/I | 20 | rs1250473011 | 0.0927 | None | gnomAD-3.1.2 | 6.58E-06 | |
17386 | 18 | V/I | 20 | rs1250473011 | 0.0927 | None | gnomAD-4.0.0 | 6.57921E-06 | |
17387 | 19 | L/H | 21 | rs2154197942 | 0.2125 | None | gnomAD-4.0.0 | 1.36983E-06 | |
17388 | 20 | C/S | 22 | None | 0.0690 | None | gnomAD-4.0.0 | 1.59485E-06 | |
17389 | 21 | K/E | 23 | rs779439447 | 0.3435 | None | gnomAD-2.1.1 | 4.03E-06 | |
17389 | 21 | K/E | 23 | rs779439447 | 0.3435 | None | gnomAD-4.0.0 | 1.5947E-06 | |
17392 | 24 | P/T | 26 | None | 0.4636 | None | gnomAD-4.0.0 | 1.36961E-06 | |
17393 | 25 | P/L | 27 | rs1470469789 | 0.1601 | None | gnomAD-4.0.0 | 1.59431E-06 | |
17393 | 25 | P/S | 27 | rs1481856511 | 0.1601 | None | gnomAD-3.1.2 | 6.58E-06 | |
17393 | 25 | P/S | 27 | rs1481856511 | 0.1601 | None | gnomAD-4.0.0 | 6.58198E-06 | |
17394 | 26 | L/P | 28 | rs727503616 | 1.0139 | None | gnomAD-3.1.2 | 6.58E-06 | |
17394 | 26 | L/P | 28 | rs727503616 | 1.0139 | None | gnomAD-4.0.0 | 2.5666E-06 | |
17395 | 27 | D/E | 29 | rs1479797110 | 0.6251 | None | gnomAD-3.1.2 | 6.58E-06 | |
17395 | 27 | D/E | 29 | rs1479797110 | 0.6251 | None | gnomAD-4.0.0 | 4.10842E-06 | |
17397 | 29 | G/D | 31 | rs2055561994 | 0.3013 | None | gnomAD-3.1.2 | 6.58E-06 | |
17397 | 29 | G/D | 31 | rs2055561994 | 0.3013 | None | gnomAD-4.0.0 | 6.58111E-06 | |
17398 | 30 | G/A | 32 | None | 0.5822 | None | gnomAD-4.0.0 | 1.59417E-06 | |
17398 | 30 | G/S | 32 | rs2055560855 | 0.5822 | None | gnomAD-3.1.2 | 6.58E-06 | |
17398 | 30 | G/S | 32 | rs2055560855 | 0.5822 | None | gnomAD-4.0.0 | 2.56651E-06 | |
17398 | 30 | G/V | 32 | rs1471268523 | 0.5822 | None | gnomAD-2.1.1 | 4.03E-06 | |
17398 | 30 | G/V | 32 | rs1471268523 | 0.5822 | None | gnomAD-3.1.2 | 6.58E-06 | |
17398 | 30 | G/V | 32 | rs1471268523 | 0.5822 | None | gnomAD-4.0.0 | 2.56661E-06 | |
17399 | 31 | S/N | 33 | rs1364503531 | 0.1531 | None | gnomAD-2.1.1 | 4.03E-06 | |
17399 | 31 | S/N | 33 | rs1364503531 | 0.1531 | None | gnomAD-4.0.0 | 3.18816E-06 | |
17400 | 32 | E/A | 34 | rs773027240 | 0.7918 | None | gnomAD-2.1.1 | 2.86E-05 | |
17400 | 32 | E/A | 34 | rs773027240 | 0.7918 | None | gnomAD-3.1.2 | 5.26E-05 | |
17400 | 32 | E/A | 34 | rs773027240 | 0.7918 | None | gnomAD-4.0.0 | 1.2217E-04 | |
17401 | 33 | I/T | 35 | rs1410389607 | 0.1950 | None | gnomAD-3.1.2 | 6.58E-06 | |
17401 | 33 | I/T | 35 | rs1410389607 | 0.1950 | None | gnomAD-4.0.0 | 6.58146E-06 | |
17403 | 35 | N/H | 37 | rs778111199 | 0.1931 | None | gnomAD-2.1.1 | 4.03E-06 | |
17403 | 35 | N/K | 37 | None | 0.1931 | None | gnomAD-4.0.0 | 2.40064E-06 | |
17404 | 36 | Y/C | 38 | rs2055555146 | 0.1254 | None | gnomAD-3.1.2 | 6.58E-06 | |
17404 | 36 | Y/C | 38 | rs2055555146 | 0.1254 | None | gnomAD-4.0.0 | 6.57834E-06 | |
17404 | 36 | Y/N | 38 | rs754650111 | 0.1254 | None | gnomAD-2.1.1 | 4.03E-06 | |
17404 | 36 | Y/N | 38 | rs754650111 | 0.1254 | None | gnomAD-4.0.0 | 1.36936E-06 | |
17406 | 38 | L/S | 40 | rs1370237214 | 0.0863 | None | gnomAD-4.0.0 | 2.40065E-06 | |
17407 | 39 | E/G | 41 | None | 0.0941 | None | gnomAD-4.0.0 | 1.59376E-06 | |
17408 | 40 | K/N | 42 | rs751225383 | 0.2517 | None | gnomAD-2.1.1 | 4.03E-06 | |
17408 | 40 | K/N | 42 | rs751225383 | 0.2517 | None | gnomAD-4.0.0 | 4.78188E-06 | |
17408 | 40 | K/T | 42 | rs876658066 | 0.2517 | None | gnomAD-2.1.1 | 1.21E-05 | |
17408 | 40 | K/T | 42 | rs876658066 | 0.2517 | None | gnomAD-4.0.0 | 1.43439E-05 | |
17409 | 41 | K/E | 43 | rs1203045644 | 0.1578 | None | gnomAD-2.1.1 | 4.03E-06 | |
17409 | 41 | K/E | 43 | rs1203045644 | 0.1578 | None | gnomAD-4.0.0 | 3.18747E-06 | |
17410 | 42 | D/G | 44 | rs757885544 | 0.1780 | None | gnomAD-2.1.1 | 1.21E-05 | |
17410 | 42 | D/G | 44 | rs757885544 | 0.1780 | None | gnomAD-4.0.0 | 4.78126E-06 | |
17410 | 42 | D/H | 44 | None | 0.1780 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17410 | 42 | D/V | 44 | rs757885544 | 0.1780 | None | gnomAD-2.1.1 | 3.19E-05 | |
17410 | 42 | D/V | 44 | rs757885544 | 0.1780 | None | gnomAD-3.1.2 | 6.58E-06 | |
17410 | 42 | D/V | 44 | rs757885544 | 0.1780 | None | gnomAD-4.0.0 | 6.5786E-06 | |
17411 | 43 | K/E | 50 | rs1243357204 | 0.3067 | None | gnomAD-2.1.1 | 4.03E-06 | |
17411 | 43 | K/E | 50 | rs1243357204 | 0.3067 | None | gnomAD-4.0.0 | 1.59381E-06 | |
17411 | 43 | K/M | 50 | rs1381230857 | 0.3067 | None | gnomAD-2.1.1 | 4.03E-06 | |
17411 | 43 | K/M | 50 | rs1381230857 | 0.3067 | None | gnomAD-4.0.0 | 1.36935E-06 | |
17413 | 45 | K/N | 60 | rs749984408 | 0.6536 | None | gnomAD-4.0.0 | 3.18786E-06 | |
17414 | 46 | P/L | 61 | rs2154197858 | 0.6542 | None | gnomAD-3.1.2 | 6.58E-06 | |
17414 | 46 | P/L | 61 | rs2154197858 | 0.6542 | None | gnomAD-4.0.0 | 6.57791E-06 | |
17415 | 47 | D/E | 62 | rs2055542542 | 0.8662 | None | gnomAD-4.0.0 | 1.5939E-06 | |
17415 | 47 | D/N | 62 | rs397517609 | 0.8662 | None | gnomAD-2.1.1 | 4.84E-05 | |
17415 | 47 | D/N | 62 | rs397517609 | 0.8662 | None | gnomAD-3.1.2 | 1.32E-05 | |
17415 | 47 | D/N | 62 | rs397517609 | 0.8662 | None | gnomAD-4.0.0 | 1.3024E-05 | |
17415 | 47 | D/Y | 62 | rs397517609 | 0.8662 | None | gnomAD-4.0.0 | 6.84709E-07 | |
17417 | 49 | E/G | 64 | rs1316644497 | 0.8786 | None | gnomAD-2.1.1 | 4.03E-06 | |
17417 | 49 | E/G | 64 | rs1316644497 | 0.8786 | None | gnomAD-4.0.0 | 1.59375E-06 | |
17418 | 50 | W/C | 65 | rs536554790 | 0.2706 | None | gnomAD-3.1.2 | 6.58E-06 | |
17418 | 50 | W/C | 65 | rs536554790 | 0.2706 | None | 1000 genomes | 1.99681E-04 | |
17418 | 50 | W/C | 65 | rs536554790 | 0.2706 | None | gnomAD-4.0.0 | 1.86033E-06 | |
17418 | 50 | W/G | 65 | rs553106785 | 0.2706 | None | gnomAD-2.1.1 | 4.03E-06 | |
17418 | 50 | W/G | 65 | rs553106785 | 0.2706 | None | gnomAD-4.0.0 | 1.59377E-06 | |
17418 | 50 | W/R | 65 | rs553106785 | 0.2706 | None | gnomAD-3.1.2 | 6.58E-06 | |
17418 | 50 | W/R | 65 | rs553106785 | 0.2706 | None | 1000 genomes | 1.99681E-04 | |
17418 | 50 | W/R | 65 | rs553106785 | 0.2706 | None | gnomAD-4.0.0 | 6.57549E-06 | |
17419 | 51 | I/T | 66 | rs1162756483 | 0.5668 | None | gnomAD-2.1.1 | 1.07E-05 | |
17419 | 51 | I/T | 66 | rs1162756483 | 0.5668 | None | gnomAD-3.1.2 | 1.32E-05 | |
17419 | 51 | I/T | 66 | rs1162756483 | 0.5668 | None | gnomAD-4.0.0 | 5.58129E-06 | |
17420 | 52 | V/A | 67 | rs1295267229 | 0.4674 | None | gnomAD-4.0.0 | 2.054E-06 | |
17420 | 52 | V/F | 67 | rs1215579052 | 0.4674 | None | gnomAD-3.1.2 | 6.58E-06 | |
17420 | 52 | V/F | 67 | rs1215579052 | 0.4674 | None | gnomAD-4.0.0 | 6.58077E-06 | |
17420 | 52 | V/G | 67 | None | 0.4674 | None | gnomAD-4.0.0 | 1.36934E-06 | |
17421 | 53 | V/F | 68 | rs1340432964 | 0.2179 | None | gnomAD-3.1.2 | 6.58E-06 | |
17421 | 53 | V/F | 68 | rs1340432964 | 0.2179 | None | gnomAD-4.0.0 | 8.06204E-06 | |
17423 | 55 | S/P | 70 | None | 0.4411 | None | gnomAD-4.0.0 | 1.59378E-06 | |
17424 | 56 | T/I | 75 | rs1559751874 | 0.7665 | None | gnomAD-2.1.1 | 4.03E-06 | |
17424 | 56 | T/I | 75 | rs1559751874 | 0.7665 | None | gnomAD-3.1.2 | 6.58E-06 | |
17424 | 56 | T/I | 75 | rs1559751874 | 0.7665 | None | gnomAD-4.0.0 | 2.48061E-06 | |
17425 | 57 | L/F | 77 | None | 0.1304 | None | gnomAD-4.0.0 | 3.42336E-06 | |
17425 | 57 | L/I | 77 | rs764049705 | 0.1304 | None | gnomAD-2.1.1 | 4.03E-06 | |
17425 | 57 | L/I | 77 | rs764049705 | 0.1304 | None | gnomAD-3.1.2 | 6.58E-06 | |
17425 | 57 | L/I | 77 | rs764049705 | 0.1304 | None | gnomAD-4.0.0 | 3.72086E-06 | |
17426 | 58 | R/T | 83 | None | 0.8063 | None | gnomAD-4.0.0 | 1.59378E-06 | |
17427 | 59 | H/R | 88 | rs1387146828 | 0.7674 | None | gnomAD-2.1.1 | 4.03E-06 | |
17427 | 59 | H/R | 88 | rs1387146828 | 0.7674 | None | gnomAD-4.0.0 | 1.59384E-06 | |
17428 | 60 | C/G | 89 | rs2055534842 | 0.1284 | None | gnomAD-4.0.0 | 3.18769E-06 | |
17435 | 67 | L/Q | 97 | rs1060500542 | 0.1311 | None | gnomAD-2.1.1 | 1.21E-05 | |
17435 | 67 | L/Q | 97 | rs1060500542 | 0.1311 | None | gnomAD-4.0.0 | 3.42372E-06 | |
17435 | 67 | L/V | 97 | None | 0.1311 | None | gnomAD-4.0.0 | 6.84748E-07 | |
17436 | 68 | I/M | 98 | None | 0.5086 | None | gnomAD-4.0.0 | 6.84743E-07 | |
17436 | 68 | I/T | 98 | rs774439701 | 0.5086 | None | gnomAD-2.1.1 | 4.04E-06 | |
17436 | 68 | I/T | 98 | rs774439701 | 0.5086 | None | gnomAD-4.0.0 | 9.58649E-06 | |
17436 | 68 | I/V | 98 | None | 0.5086 | None | gnomAD-4.0.0 | 1.59418E-06 | |
17438 | 70 | G/E | 100 | rs1356720044 | 0.4456 | None | gnomAD-2.1.1 | 8.09E-06 | |
17438 | 70 | G/E | 100 | rs1356720044 | 0.4456 | None | gnomAD-3.1.2 | 6.58E-06 | |
17438 | 70 | G/E | 100 | rs1356720044 | 0.4456 | None | gnomAD-4.0.0 | 5.58221E-06 | |
17438 | 70 | G/R | 100 | None | 0.4456 | None | gnomAD-4.0.0 | 2.7391E-06 | |
17439 | 71 | K/N | 102 | None | 0.2286 | None | gnomAD-4.0.0 | 1.23264E-05 | |
17439 | 71 | K/T | 102 | rs1293294438 | 0.2286 | None | gnomAD-2.1.1 | 4.04E-06 | |
17439 | 71 | K/T | 102 | rs1293294438 | 0.2286 | None | gnomAD-4.0.0 | 1.59437E-06 | |
17440 | 72 | E/G | 103 | rs2055527887 | 0.1989 | None | gnomAD-3.1.2 | 6.58E-06 | |
17440 | 72 | E/G | 103 | rs2055527887 | 0.1989 | None | gnomAD-4.0.0 | 2.5668E-06 | |
17440 | 72 | E/K | 103 | None | 0.1989 | None | gnomAD-4.0.0 | 1.59447E-06 | |
17441 | 73 | Y/H | 104 | None | 0.1235 | None | gnomAD-4.0.0 | 1.59462E-06 | |
17442 | 74 | L/V | 105 | rs2055526499 | 0.2092 | None | gnomAD-3.1.2 | 6.58E-06 | |
17442 | 74 | L/V | 105 | rs2055526499 | 0.2092 | None | gnomAD-4.0.0 | 6.20279E-06 | |
17443 | 75 | F/S | 106 | None | 0.0982 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17444 | 76 | R/C | 107 | rs778094750 | 0.1300 | None | gnomAD-2.1.1 | 1.22E-05 | |
17444 | 76 | R/C | 107 | rs778094750 | 0.1300 | None | gnomAD-4.0.0 | 8.21883E-06 | |
17444 | 76 | R/H | 107 | rs376080116 | 0.1300 | None | gnomAD-2.1.1 | 2.73399E-04 | |
17444 | 76 | R/H | 107 | rs376080116 | 0.1300 | None | gnomAD-3.1.2 | 1.25026E-04 | |
17444 | 76 | R/H | 107 | rs376080116 | 0.1300 | None | gnomAD-4.0.0 | 8.31262E-05 | |
17444 | 76 | R/S | 107 | None | 0.1300 | None | gnomAD-4.0.0 | 6.84902E-07 | |
17445 | 77 | V/I | 108 | rs1323206460 | 0.0695 | None | gnomAD-2.1.1 | 4.06E-06 | |
17445 | 77 | V/I | 108 | rs1323206460 | 0.0695 | None | gnomAD-4.0.0 | 1.91776E-05 | |
17446 | 78 | R/K | 109 | None | 0.3108 | None | gnomAD-4.0.0 | 4.10947E-06 | |
17447 | 79 | A/D | 110 | None | 0.1043 | None | gnomAD-4.0.0 | 5.47962E-06 | |
17447 | 79 | A/G | 110 | rs758092362 | 0.1043 | None | gnomAD-2.1.1 | 1.22E-05 | |
17447 | 79 | A/G | 110 | rs758092362 | 0.1043 | None | gnomAD-3.1.2 | 6.58E-06 | |
17447 | 79 | A/G | 110 | rs758092362 | 0.1043 | None | gnomAD-4.0.0 | 6.20359E-06 | |
17447 | 79 | A/T | 110 | rs1367567526 | 0.1043 | None | gnomAD-2.1.1 | 4.06E-06 | |
17447 | 79 | A/T | 110 | rs1367567526 | 0.1043 | None | gnomAD-4.0.0 | 7.20193E-06 | |
17448 | 80 | E/A | 111 | None | 0.2511 | None | gnomAD-4.0.0 | 3.60097E-06 | |
17448 | 80 | E/K | 111 | rs749894582 | 0.2511 | None | gnomAD-2.1.1 | 4.06E-06 | |
17448 | 80 | E/K | 111 | rs749894582 | 0.2511 | None | gnomAD-4.0.0 | 4.10979E-06 | |
17448 | 80 | E/Q | 111 | rs749894582 | 0.2511 | None | gnomAD-2.1.1 | 4.06E-06 | |
17448 | 80 | E/Q | 111 | rs749894582 | 0.2511 | None | gnomAD-4.0.0 | 6.84965E-07 | |
17449 | 81 | N/K | 112 | rs1165942763 | 0.0950 | None | gnomAD-2.1.1 | 1.62E-05 | |
17449 | 81 | N/K | 112 | rs1165942763 | 0.0950 | None | gnomAD-3.1.2 | 1.32E-05 | |
17449 | 81 | N/K | 112 | rs1165942763 | 0.0950 | None | gnomAD-4.0.0 | 7.70394E-06 | |
17450 | 82 | R/K | 113 | rs778572247 | 0.4854 | None | gnomAD-2.1.1 | 1.22E-05 | |
17450 | 82 | R/K | 113 | rs778572247 | 0.4854 | None | gnomAD-3.1.2 | 6.58E-06 | |
17450 | 82 | R/K | 113 | rs778572247 | 0.4854 | None | gnomAD-4.0.0 | 9.92525E-06 | |
17450 | 82 | R/T | 113 | None | 0.4854 | None | gnomAD-4.0.0 | 6.84963E-07 | |
17452 | 84 | G/R | 115 | rs777777062 | 0.2130 | None | gnomAD-4.0.0 | 3.19082E-06 | |
17452 | 84 | G/V | 115 | None | 0.2130 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17453 | 85 | P/S | 117 | None | 0.5466 | None | gnomAD-4.0.0 | 1.59554E-06 | |
17454 | 86 | G/D | 118 | None | 0.1953 | None | gnomAD-4.0.0 | 3.60097E-06 | |
17455 | 87 | P/A | 119 | rs757257344 | 0.4285 | None | gnomAD-2.1.1 | 4.07E-06 | |
17455 | 87 | P/A | 119 | rs757257344 | 0.4285 | None | gnomAD-4.0.0 | 1.59575E-06 | |
17455 | 87 | P/L | 119 | rs1489703004 | 0.4285 | None | gnomAD-2.1.1 | 4.07E-06 | |
17455 | 87 | P/L | 119 | rs1489703004 | 0.4285 | None | gnomAD-4.0.0 | 4.11029E-06 | |
17456 | 88 | P/Q | 120 | None | 0.3943 | None | gnomAD-4.0.0 | 1.5959E-06 | |
17457 | 89 | C/Y | 121 | rs368055091 | 0.1495 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17458 | 90 | V/A | 122 | rs760430370 | 0.4003 | None | gnomAD-2.1.1 | 1.81E-05 | |
17458 | 90 | V/A | 122 | rs760430370 | 0.4003 | None | gnomAD-3.1.2 | 1.97E-05 | |
17458 | 90 | V/A | 122 | rs760430370 | 0.4003 | None | gnomAD-4.0.0 | 3.47506E-05 | |
17458 | 90 | V/I | 122 | rs763928739 | 0.4003 | None | gnomAD-2.1.1 | 4.08E-06 | |
17458 | 90 | V/I | 122 | rs763928739 | 0.4003 | None | gnomAD-4.0.0 | 4.78947E-06 | |
17461 | 93 | P/S | 126 | rs2055511936 | 0.3820 | None | gnomAD-4.0.0 | 1.59742E-06 | |
17462 | 94 | L/F | 127 | None | 0.1370 | None | gnomAD-4.0.0 | 3.19535E-06 | |
17462 | 94 | L/P | 127 | rs1216814159 | 0.1370 | None | gnomAD-2.1.1 | 4.09E-06 | |
17462 | 94 | L/P | 127 | rs1216814159 | 0.1370 | None | gnomAD-3.1.2 | 6.58E-06 | |
17462 | 94 | L/P | 127 | rs1216814159 | 0.1370 | None | gnomAD-4.0.0 | 8.06969E-06 | |
17463 | 95 | V/A | 128 | rs2055509870 | 0.4152 | None | gnomAD-3.1.2 | 6.58E-06 | |
17463 | 95 | V/A | 128 | rs2055509870 | 0.4152 | None | gnomAD-4.0.0 | 6.57713E-06 | |
17463 | 95 | V/M | 128 | None | 0.4152 | None | gnomAD-4.0.0 | 1.20032E-06 | |
17464 | 96 | A/P | 130 | None | 0.0981 | None | gnomAD-4.0.0 | 1.59904E-06 | |
17464 | 96 | A/T | 130 | rs2055509243 | 0.0981 | None | gnomAD-3.1.2 | 6.58E-06 | |
17464 | 96 | A/T | 130 | rs2055509243 | 0.0981 | None | gnomAD-4.0.0 | 3.85911E-06 | |
17464 | 96 | A/V | 130 | None | 0.0981 | None | gnomAD-4.0.0 | 1.37143E-06 | |
17466 | 98 | D/G | 132 | rs377156953 | 0.2519 | None | gnomAD-3.1.2 | 6.58E-06 |