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I | K | I | I | R | G | L | R | D | L | T | C | T | E | T | Q | N | V | V | F | E | V | E | L | S | H | S | G | I | D | V | L | W | N | F | K | D | K | E | I | K | P | S | S | K | Y | K | I | E | A | H | G | K | I | Y | K | L | T | V | L | N | M | M | K | D | D | E | G | K | Y | T | F | Y | A | G | E | N | M | T | S | G | K | L | T | V | A | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
2533 | 1 | I/M | 1 | None | 0.4992 | None | gnomAD-4.0.0 | 1.59087E-06 | |
2533 | 1 | I/N | 1 | rs1247030843 | 0.4992 | None | gnomAD-2.1.1 | 4.01E-06 | |
2533 | 1 | I/N | 1 | rs1247030843 | 0.4992 | None | gnomAD-4.0.0 | 1.59088E-06 | |
2533 | 1 | I/V | 1 | rs372407708 | 0.4992 | None | gnomAD-2.1.1 | 2.14E-05 | |
2533 | 1 | I/V | 1 | rs372407708 | 0.4992 | None | gnomAD-3.1.2 | 6.57E-05 | |
2533 | 1 | I/V | 1 | rs372407708 | 0.4992 | None | gnomAD-4.0.0 | 1.11524E-05 | |
2534 | 2 | K/E | 2 | rs767167863 | 0.7669 | None | gnomAD-2.1.1 | 1.2E-05 | |
2534 | 2 | K/E | 2 | rs767167863 | 0.7669 | None | gnomAD-4.0.0 | 6.36343E-06 | |
2536 | 4 | I/M | 4 | None | 0.4191 | None | gnomAD-4.0.0 | 6.84141E-07 | |
2536 | 4 | I/S | 4 | None | 0.4191 | None | gnomAD-4.0.0 | 1.59086E-06 | |
2537 | 5 | R/S | 5 | None | 0.4165 | None | gnomAD-4.0.0 | 6.84136E-07 | |
2538 | 6 | G/D | 7 | rs1274574174 | 0.3032 | None | gnomAD-2.1.1 | 4E-06 | |
2538 | 6 | G/D | 7 | rs1274574174 | 0.3032 | None | gnomAD-3.1.2 | 1.31E-05 | |
2538 | 6 | G/D | 7 | rs1274574174 | 0.3032 | None | gnomAD-4.0.0 | 9.29476E-06 | |
2538 | 6 | G/V | 7 | None | 0.3032 | None | gnomAD-4.0.0 | 1.36828E-06 | |
2540 | 8 | R/C | 9 | rs368574470 | 0.7294 | None | gnomAD-2.1.1 | 5.69E-05 | |
2540 | 8 | R/C | 9 | rs368574470 | 0.7294 | None | gnomAD-3.1.2 | 1.05187E-04 | |
2540 | 8 | R/C | 9 | rs368574470 | 0.7294 | None | gnomAD-4.0.0 | 1.00996E-04 | |
2540 | 8 | R/H | 9 | None | 0.7294 | None | gnomAD-2.1.1 | 4E-05 | |
2540 | 8 | R/H | 9 | None | 0.7294 | None | gnomAD-3.1.2 | 4.6E-05 | |
2540 | 8 | R/H | 9 | None | 0.7294 | None | gnomAD-4.0.0 | 1.22078E-04 | |
2540 | 8 | R/P | 9 | rs397517725 | 0.7294 | None | gnomAD-2.1.1 | 4E-06 | |
2540 | 8 | R/P | 9 | rs397517725 | 0.7294 | None | gnomAD-4.0.0 | 3.42065E-06 | |
2541 | 9 | D/E | 11 | rs2091808805 | 0.5459 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2541 | 9 | D/Y | 11 | rs1462842843 | 0.5459 | None | gnomAD-4.0.0 | 3.18167E-06 | |
2542 | 10 | L/I | 13 | rs762722498 | 0.3105 | None | gnomAD-2.1.1 | 4E-06 | |
2542 | 10 | L/I | 13 | rs762722498 | 0.3105 | None | gnomAD-3.1.2 | 6.57E-06 | |
2542 | 10 | L/I | 13 | rs762722498 | 0.3105 | None | gnomAD-4.0.0 | 1.85896E-06 | |
2542 | 10 | L/P | 13 | None | 0.3105 | None | gnomAD-4.0.0 | 1.59082E-06 | |
2543 | 11 | T/I | 14 | rs765136135 | 0.5813 | None | gnomAD-2.1.1 | 1.07E-05 | |
2543 | 11 | T/I | 14 | rs765136135 | 0.5813 | None | gnomAD-3.1.2 | 3.94E-05 | |
2543 | 11 | T/I | 14 | rs765136135 | 0.5813 | None | gnomAD-4.0.0 | 6.19647E-06 | |
2543 | 11 | T/N | 14 | None | 0.5813 | None | gnomAD-4.0.0 | 3.42066E-06 | |
2543 | 11 | T/S | 14 | rs765136135 | 0.5813 | None | gnomAD-2.1.1 | 2.84E-05 | |
2543 | 11 | T/S | 14 | rs765136135 | 0.5813 | None | gnomAD-3.1.2 | 8.55E-05 | |
2543 | 11 | T/S | 14 | rs765136135 | 0.5813 | None | gnomAD-4.0.0 | 4.77248E-06 | |
2544 | 12 | C/Y | 16 | rs1271799350 | 0.1320 | None | gnomAD-4.0.0 | 1.59084E-06 | |
2545 | 13 | T/A | 18 | rs761827668 | 0.4516 | None | gnomAD-2.1.1 | 3.18E-05 | |
2545 | 13 | T/A | 18 | rs761827668 | 0.4516 | None | gnomAD-3.1.2 | 6.57E-06 | |
2545 | 13 | T/A | 18 | rs761827668 | 0.4516 | None | gnomAD-4.0.0 | 2.56155E-06 | |
2545 | 13 | T/I | 18 | rs1016165797 | 0.4516 | None | gnomAD-2.1.1 | 1.06E-05 | |
2545 | 13 | T/I | 18 | rs1016165797 | 0.4516 | None | gnomAD-3.1.2 | 1.97E-05 | |
2545 | 13 | T/I | 18 | rs1016165797 | 0.4516 | None | gnomAD-4.0.0 | 1.67306E-05 | |
2545 | 13 | T/R | 18 | None | 0.4516 | None | gnomAD-4.0.0 | 1.36826E-06 | |
2545 | 13 | T/S | 18 | rs761827668 | 0.4516 | None | gnomAD-2.1.1 | 3.99E-06 | |
2545 | 13 | T/S | 18 | rs761827668 | 0.4516 | None | gnomAD-4.0.0 | 1.59081E-06 | |
2546 | 14 | E/D | 23 | None | 0.2917 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2547 | 15 | T/A | 24 | rs984424988 | 0.5706 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2547 | 15 | T/I | 24 | None | 0.5706 | None | gnomAD-4.0.0 | 3.18168E-06 | |
2548 | 16 | Q/H | 25 | None | 0.3661 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2548 | 16 | Q/R | 25 | rs2091804454 | 0.3661 | None | gnomAD-4.0.0 | 2.40065E-06 | |
2549 | 17 | N/H | 26 | rs1277824720 | 0.5255 | None | gnomAD-3.1.2 | 1.31E-05 | |
2549 | 17 | N/H | 26 | rs1277824720 | 0.5255 | None | gnomAD-4.0.0 | 1.31425E-05 | |
2550 | 18 | V/M | 28 | None | 0.1823 | None | gnomAD-4.0.0 | 1.20033E-06 | |
2551 | 19 | V/L | 29 | None | 0.4108 | None | gnomAD-4.0.0 | 6.8413E-07 | |
2551 | 19 | V/M | 29 | None | 0.4108 | None | gnomAD-4.0.0 | 6.8413E-07 | |
2552 | 20 | F/L | 30 | None | 0.1358 | None | gnomAD-4.0.0 | 1.59087E-06 | |
2552 | 20 | F/S | 30 | rs1308781409 | 0.1358 | None | gnomAD-2.1.1 | 3.99E-06 | |
2552 | 20 | F/S | 30 | rs1308781409 | 0.1358 | None | gnomAD-4.0.0 | 1.59086E-06 | |
2553 | 21 | E/A | 31 | rs367621583 | 0.2819 | None | gnomAD-2.1.1 | 3.99E-06 | |
2553 | 21 | E/A | 31 | rs367621583 | 0.2819 | None | gnomAD-3.1.2 | 6.57E-06 | |
2553 | 21 | E/A | 31 | rs367621583 | 0.2819 | None | gnomAD-4.0.0 | 2.5618E-06 | |
2554 | 22 | V/I | 33 | None | 0.0847 | None | gnomAD-4.0.0 | 6.84144E-07 | |
2554 | 22 | V/L | 33 | None | 0.0847 | None | gnomAD-4.0.0 | 6.84144E-07 | |
2555 | 23 | E/K | 34 | None | 0.2728 | None | gnomAD-4.0.0 | 1.20033E-06 | |
2557 | 25 | S/F | 38 | None | 0.1875 | None | gnomAD-4.0.0 | 6.84132E-07 | |
2557 | 25 | S/Y | 38 | None | 0.1875 | None | gnomAD-4.0.0 | 6.84132E-07 | |
2558 | 26 | H/R | 40 | rs1175796012 | 0.5804 | None | gnomAD-2.1.1 | 3.99E-06 | |
2558 | 26 | H/R | 40 | rs1175796012 | 0.5804 | None | gnomAD-4.0.0 | 2.05241E-06 | |
2559 | 27 | S/Y | 42 | None | 0.5639 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2561 | 29 | I/M | 44 | None | 0.2569 | None | gnomAD-4.0.0 | 1.59086E-06 | |
2561 | 29 | I/T | 44 | rs747031357 | 0.2569 | None | gnomAD-2.1.1 | 2.13E-05 | |
2561 | 29 | I/T | 44 | rs747031357 | 0.2569 | None | gnomAD-3.1.2 | 1.31E-05 | |
2561 | 29 | I/T | 44 | rs747031357 | 0.2569 | None | gnomAD-4.0.0 | 1.98277E-05 | |
2562 | 30 | D/E | 45 | None | 0.8872 | None | gnomAD-4.0.0 | 1.59088E-06 | |
2562 | 30 | D/G | 45 | rs2091799786 | 0.8872 | None | gnomAD-4.0.0 | 1.20033E-06 | |
2563 | 31 | V/D | 46 | rs775758080 | 0.1983 | None | gnomAD-2.1.1 | 7.98E-06 | |
2563 | 31 | V/D | 46 | rs775758080 | 0.1983 | None | gnomAD-4.0.0 | 3.18177E-06 | |
2566 | 34 | N/D | 49 | None | 0.1996 | None | gnomAD-4.0.0 | 1.59095E-06 | |
2568 | 36 | K/Q | 51 | rs746270312 | 0.2797 | None | gnomAD-2.1.1 | 3.18E-05 | |
2568 | 36 | K/Q | 51 | rs746270312 | 0.2797 | None | gnomAD-3.1.2 | 1.31E-05 | |
2568 | 36 | K/Q | 51 | rs746270312 | 0.2797 | None | gnomAD-4.0.0 | 3.09829E-06 | |
2568 | 36 | K/R | 51 | None | 0.2797 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2569 | 37 | D/E | 52 | rs2091797689 | 0.8628 | None | gnomAD-4.0.0 | 1.59094E-06 | |
2569 | 37 | D/V | 52 | None | 0.8628 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2570 | 38 | K/E | 55 | rs779361884 | 0.7724 | None | gnomAD-2.1.1 | 2E-05 | |
2570 | 38 | K/E | 55 | rs779361884 | 0.7724 | None | gnomAD-4.0.0 | 6.84154E-06 | |
2570 | 38 | K/M | 55 | None | 0.7724 | None | gnomAD-4.0.0 | 1.20033E-06 | |
2570 | 38 | K/Q | 55 | rs779361884 | 0.7724 | None | gnomAD-4.0.0 | 6.84154E-07 | |
2571 | 39 | E/K | 56 | rs149660690 | 0.4999 | None | gnomAD-2.1.1 | 5.68E-05 | |
2571 | 39 | E/K | 56 | rs149660690 | 0.4999 | None | gnomAD-3.1.2 | 1.6442E-04 | |
2571 | 39 | E/K | 56 | rs149660690 | 0.4999 | None | 1000 genomes | 1.19808E-03 | |
2571 | 39 | E/K | 56 | rs149660690 | 0.4999 | None | gnomAD-4.0.0 | 3.34608E-05 | |
2571 | 39 | E/V | 56 | None | 0.4999 | None | gnomAD-4.0.0 | 1.59096E-06 | |
2572 | 40 | I/M | 58 | rs749818939 | 0.1286 | None | gnomAD-2.1.1 | 3.99E-06 | |
2572 | 40 | I/M | 58 | rs749818939 | 0.1286 | None | gnomAD-4.0.0 | 3.42082E-06 | |
2573 | 41 | K/N | 59 | rs2091795391 | 0.5943 | None | gnomAD-4.0.0 | 6.84166E-07 | |
2573 | 41 | K/R | 59 | rs113405975 | 0.5943 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2575 | 43 | S/C | 73 | rs1469009599 | 0.2695 | None | gnomAD-2.1.1 | 3.18E-05 | |
2575 | 43 | S/C | 73 | rs1469009599 | 0.2695 | None | gnomAD-3.1.2 | 6.57E-06 | |
2575 | 43 | S/C | 73 | rs1469009599 | 0.2695 | None | gnomAD-4.0.0 | 6.57117E-06 | |
2575 | 43 | S/G | 73 | None | 0.2695 | None | gnomAD-4.0.0 | 1.591E-06 | |
2576 | 44 | S/P | 111 | rs1192243429 | 0.8644 | None | gnomAD-3.1.2 | 6.57E-06 | |
2576 | 44 | S/P | 111 | rs1192243429 | 0.8644 | None | gnomAD-4.0.0 | 6.57376E-06 | |
2576 | 44 | S/Y | 111 | rs1420811529 | 0.8644 | None | gnomAD-4.0.0 | 1.20033E-06 | |
2577 | 45 | K/Q | 115 | None | 0.1597 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2577 | 45 | K/R | 115 | rs1312348465 | 0.1597 | None | gnomAD-2.1.1 | 7.99E-06 | |
2577 | 45 | K/R | 115 | rs1312348465 | 0.1597 | None | gnomAD-4.0.0 | 9.54651E-06 | |
2578 | 46 | Y/D | 121 | None | 0.2199 | None | gnomAD-4.0.0 | 6.84179E-07 | |
2578 | 46 | Y/H | 121 | rs754592016 | 0.2199 | None | gnomAD-2.1.1 | 2.8E-05 | |
2578 | 46 | Y/H | 121 | rs754592016 | 0.2199 | None | gnomAD-4.0.0 | 8.21015E-06 | |
2579 | 47 | K/E | 122 | None | 0.4622 | None | gnomAD-4.0.0 | 2.05255E-06 | |
2579 | 47 | K/R | 122 | rs1222416655 | 0.4622 | None | gnomAD-2.1.1 | 4E-06 | |
2579 | 47 | K/R | 122 | rs1222416655 | 0.4622 | None | gnomAD-4.0.0 | 1.36836E-06 | |
2580 | 48 | I/M | 123 | rs146590898 | 0.2869 | None | gnomAD-2.1.1 | 1.13649E-03 | |
2580 | 48 | I/M | 123 | rs146590898 | 0.2869 | None | gnomAD-3.1.2 | 3.47131E-03 | |
2580 | 48 | I/M | 123 | rs146590898 | 0.2869 | None | 1000 genomes | 3.59425E-03 | |
2580 | 48 | I/M | 123 | rs146590898 | 0.2869 | None | gnomAD-4.0.0 | 6.33899E-04 | |
2580 | 48 | I/T | 123 | rs1554000030 | 0.2869 | None | gnomAD-4.0.0 | 3.18219E-06 | |
2580 | 48 | I/V | 123 | rs753963679 | 0.2869 | None | gnomAD-3.1.2 | 6.57E-06 | |
2580 | 48 | I/V | 123 | rs753963679 | 0.2869 | None | gnomAD-4.0.0 | 8.67537E-06 | |
2582 | 50 | A/G | 127 | rs2091790916 | 0.3895 | None | gnomAD-4.0.0 | 6.842E-07 | |
2582 | 50 | A/T | 127 | rs1060500576 | 0.3895 | None | gnomAD-4.0.0 | 2.40066E-06 | |
2582 | 50 | A/V | 127 | None | 0.3895 | None | gnomAD-4.0.0 | 5.4736E-06 | |
2583 | 51 | H/R | 130 | rs2091790336 | 0.6914 | None | gnomAD-4.0.0 | 1.36838E-06 | |
2583 | 51 | H/Y | 130 | rs367582681 | 0.6914 | None | gnomAD-2.1.1 | 7.99E-06 | |
2583 | 51 | H/Y | 130 | rs367582681 | 0.6914 | None | gnomAD-3.1.2 | 6.58E-06 | |
2583 | 51 | H/Y | 130 | rs367582681 | 0.6914 | None | gnomAD-4.0.0 | 3.09888E-06 | |
2584 | 52 | G/E | 131 | None | 0.4585 | None | gnomAD-4.0.0 | 1.59125E-06 | |
2585 | 53 | K/N | 134 | rs2091789577 | 0.3501 | None | gnomAD-3.1.2 | 6.57E-06 | |
2585 | 53 | K/N | 134 | rs2091789577 | 0.3501 | None | gnomAD-4.0.0 | 6.57177E-06 | |
2586 | 54 | I/L | 135 | None | 0.3036 | None | gnomAD-4.0.0 | 1.59126E-06 | |
2586 | 54 | I/M | 135 | rs556000493 | 0.3036 | None | gnomAD-2.1.1 | 2.95773E-04 | |
2586 | 54 | I/M | 135 | rs556000493 | 0.3036 | None | gnomAD-3.1.2 | 5.91E-05 | |
2586 | 54 | I/M | 135 | rs556000493 | 0.3036 | None | 1000 genomes | 7.98722E-04 | |
2586 | 54 | I/M | 135 | rs556000493 | 0.3036 | None | gnomAD-4.0.0 | 1.25169E-04 | |
2586 | 54 | I/V | 135 | rs2091789026 | 0.3036 | None | gnomAD-3.1.2 | 6.57E-06 | |
2586 | 54 | I/V | 135 | rs2091789026 | 0.3036 | None | gnomAD-4.0.0 | 6.57091E-06 | |
2587 | 55 | Y/C | 136 | rs375047082 | 0.1480 | None | gnomAD-2.1.1 | 1.2E-05 | |
2587 | 55 | Y/C | 136 | rs375047082 | 0.1480 | None | gnomAD-3.1.2 | 1.31E-05 | |
2587 | 55 | Y/C | 136 | rs375047082 | 0.1480 | None | gnomAD-4.0.0 | 5.57716E-06 | |
2588 | 56 | K/N | 137 | rs1361032185 | 0.2886 | None | gnomAD-3.1.2 | 6.57E-06 | |
2588 | 56 | K/N | 137 | rs1361032185 | 0.2886 | None | gnomAD-4.0.0 | 6.57142E-06 | |
2589 | 57 | L/F | 138 | rs372080212 | 0.0693 | None | gnomAD-2.1.1 | 5.33E-05 | |
2589 | 57 | L/F | 138 | rs372080212 | 0.0693 | None | gnomAD-3.1.2 | 1.05193E-04 | |
2589 | 57 | L/F | 138 | rs372080212 | 0.0693 | None | gnomAD-4.0.0 | 1.92124E-05 | |
2590 | 58 | T/I | 139 | rs761445567 | 0.2378 | None | gnomAD-2.1.1 | 1.42E-05 | |
2590 | 58 | T/I | 139 | rs761445567 | 0.2378 | None | gnomAD-3.1.2 | 6.58E-06 | |
2590 | 58 | T/I | 139 | rs761445567 | 0.2378 | None | gnomAD-4.0.0 | 6.1976E-06 | |
2591 | 59 | V/I | 140 | None | 0.0974 | None | gnomAD-4.0.0 | 1.36848E-06 | |
2592 | 60 | L/I | 141 | None | 0.4165 | None | gnomAD-4.0.0 | 1.59125E-06 | |
2593 | 61 | N/S | 143 | None | 0.6564 | None | gnomAD-4.0.0 | 1.59114E-06 | |
2594 | 62 | M/T | 144 | rs764016233 | 0.0823 | None | gnomAD-2.1.1 | 7.99E-06 | |
2594 | 62 | M/T | 144 | rs764016233 | 0.0823 | None | gnomAD-4.0.0 | 2.05273E-06 | |
2594 | 62 | M/V | 144 | rs913684550 | 0.0823 | None | gnomAD-3.1.2 | 6.57E-06 | |
2594 | 62 | M/V | 144 | rs913684550 | 0.0823 | None | gnomAD-4.0.0 | 3.09849E-06 | |
2595 | 63 | M/V | 145 | rs760786665 | 0.4223 | None | gnomAD-2.1.1 | 2.4E-05 | |
2595 | 63 | M/V | 145 | rs760786665 | 0.4223 | None | gnomAD-3.1.2 | 1.31E-05 | |
2595 | 63 | M/V | 145 | rs760786665 | 0.4223 | None | gnomAD-4.0.0 | 3.20247E-05 | |
2598 | 66 | D/V | 149 | None | 0.1838 | None | gnomAD-4.0.0 | 8.4028E-06 | |
2599 | 67 | E/G | 151 | rs2091784595 | 0.2541 | None | gnomAD-3.1.2 | 6.57E-06 | |
2599 | 67 | E/G | 151 | rs2091784595 | 0.2541 | None | gnomAD-4.0.0 | 3.04488E-06 | |
2599 | 67 | E/V | 151 | rs2091784595 | 0.2541 | None | gnomAD-3.1.2 | 6.57E-06 | |
2599 | 67 | E/V | 151 | rs2091784595 | 0.2541 | None | gnomAD-4.0.0 | 6.56996E-06 | |
2600 | 68 | G/A | 152 | rs1574610507 | 0.1637 | None | gnomAD-4.0.0 | 6.84257E-07 | |
2600 | 68 | G/R | 152 | None | 0.1637 | None | gnomAD-4.0.0 | 1.20039E-06 | |
2601 | 69 | K/N | 153 | rs988264686 | 0.4366 | None | gnomAD-2.1.1 | 3.99E-06 | |
2601 | 69 | K/N | 153 | rs988264686 | 0.4366 | None | gnomAD-4.0.0 | 1.59113E-06 | |
2602 | 70 | Y/C | 154 | None | 0.0988 | None | gnomAD-4.0.0 | 1.59112E-06 | |
2603 | 71 | T/A | 155 | rs775528928 | 0.1423 | None | gnomAD-2.1.1 | 3.99E-06 | |
2603 | 71 | T/A | 155 | rs775528928 | 0.1423 | None | gnomAD-4.0.0 | 1.0263E-05 | |
2603 | 71 | T/I | 155 | None | 0.1423 | None | gnomAD-4.0.0 | 1.59113E-06 | |
2604 | 72 | F/S | 156 | rs772001227 | 0.0770 | None | gnomAD-2.1.1 | 3.99E-06 | |
2604 | 72 | F/S | 156 | rs772001227 | 0.0770 | None | gnomAD-4.0.0 | 1.59108E-06 | |
2605 | 73 | Y/H | 157 | None | 0.3440 | None | gnomAD-4.0.0 | 1.20033E-06 | |
2606 | 74 | A/G | 158 | None | 0.1576 | None | gnomAD-4.0.0 | 6.8419E-07 | |
2606 | 74 | A/T | 158 | rs375286376 | 0.1576 | None | gnomAD-2.1.1 | 3.55E-05 | |
2606 | 74 | A/T | 158 | rs375286376 | 0.1576 | None | gnomAD-3.1.2 | 4.6E-05 | |
2606 | 74 | A/T | 158 | rs375286376 | 0.1576 | None | gnomAD-4.0.0 | 6.87847E-05 | |
2606 | 74 | A/V | 158 | rs370857722 | 0.1576 | None | gnomAD-2.1.1 | 6.74E-05 | |
2606 | 74 | A/V | 158 | rs370857722 | 0.1576 | None | gnomAD-3.1.2 | 7.23E-05 | |
2606 | 74 | A/V | 158 | rs370857722 | 0.1576 | None | gnomAD-4.0.0 | 6.75444E-05 | |
2607 | 75 | G/R | 159 | rs1214151889 | 0.4992 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2609 | 77 | N/D | 162 | None | 0.4357 | None | gnomAD-4.0.0 | 1.59106E-06 | |
2610 | 78 | M/I | 163 | rs56142888 | 0.4761 | None | gnomAD-2.1.1 | 7.52578E-02 | |
2610 | 78 | M/I | 163 | rs56142888 | 0.4761 | None | gnomAD-3.1.2 | 4.98239E-02 | |
2610 | 78 | M/I | 163 | rs56142888 | 0.4761 | None | 1000 genomes | 7.54792E-02 | |
2610 | 78 | M/I | 163 | rs56142888 | 0.4761 | None | gnomAD-4.0.0 | 5.24191E-02 | |
2610 | 78 | M/L | 163 | None | 0.4761 | None | gnomAD-4.0.0 | 6.84169E-07 | |
2610 | 78 | M/V | 163 | rs1331698925 | 0.4761 | None | gnomAD-2.1.1 | 3.99E-06 | |
2610 | 78 | M/V | 163 | rs1331698925 | 0.4761 | None | gnomAD-3.1.2 | 6.57E-06 | |
2610 | 78 | M/V | 163 | rs1331698925 | 0.4761 | None | gnomAD-4.0.0 | 1.85878E-06 | |
2612 | 80 | S/F | 171 | rs770391975 | 0.3325 | None | gnomAD-2.1.1 | 3.99E-06 | |
2612 | 80 | S/F | 171 | rs770391975 | 0.3325 | None | gnomAD-4.0.0 | 4.10506E-06 | |
2612 | 80 | S/P | 171 | rs558027818 | 0.3325 | None | gnomAD-3.1.2 | 6.57E-06 | |
2612 | 80 | S/P | 171 | rs558027818 | 0.3325 | None | 1000 genomes | 1.99681E-04 | |
2612 | 80 | S/P | 171 | rs558027818 | 0.3325 | None | gnomAD-4.0.0 | 6.56737E-06 | |
2613 | 81 | G/E | 172 | None | 0.1484 | None | gnomAD-4.0.0 | 1.20033E-06 | |
2614 | 82 | K/N | 173 | rs535026241 | 0.5046 | None | gnomAD-2.1.1 | 3.99E-06 | |
2614 | 82 | K/N | 173 | rs535026241 | 0.5046 | None | gnomAD-3.1.2 | 6.57E-06 | |
2614 | 82 | K/N | 173 | rs535026241 | 0.5046 | None | 1000 genomes | 1.99681E-04 | |
2614 | 82 | K/N | 173 | rs535026241 | 0.5046 | None | gnomAD-4.0.0 | 6.56478E-06 | |
2616 | 84 | T/A | 175 | None | 0.3302 | None | gnomAD-4.0.0 | 1.59109E-06 | |
2616 | 84 | T/I | 175 | None | 0.3302 | None | gnomAD-4.0.0 | 1.59113E-06 | |
2616 | 84 | T/P | 175 | None | 0.3302 | None | gnomAD-4.0.0 | 1.59109E-06 |