10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
R | P | G | P | P | V | G | P | V | S | F | D | E | V | T | K | D | Y | M | V | I | S | W | K | P | P | L | D | D | G | G | S | K | I | T | N | Y | I | I | E | K | K | E | V | G | K | D | V | W | M | P | V | T | S | A | S | A | K | T | T | C | K | V | S | K | L | L | E | G | K | D | Y | I | F | R | I | H | A | E | N | L | Y | G | I | S | D | P | L | V | S | D | S | M | K | A | K | D | R |
R | P | G | P | P | V | G | P | V | S | F | D | E | V | T | K | D | Y | M | V | I | S | W | K | P | P | L | D | D | G | G | S | K | I | T | N | Y | I | I | E | K | K | E | V | G | K | D | V | W | M | P | V | T | S | A | S | A | K | T | T | C | K | V | S | K | L | L | E | G | K | D | Y | I | F | R | I | H | A | E | N | L | Y | G | I | S | D | P | L | V | S | D | S | M | K | A | K | D | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
19479 | 1 | R/C | 1 | rs768666860 | 0.5250 | None | gnomAD-2.1.1 | 4.15E-06 | |
19479 | 1 | R/C | 1 | rs768666860 | 0.5250 | None | gnomAD-4.0.0 | 6.86725E-06 | |
19479 | 1 | R/H | 1 | rs2288569 | 0.5250 | None | gnomAD-2.1.1 | 1.74251E-01 | |
19479 | 1 | R/H | 1 | rs2288569 | 0.5250 | None | gnomAD-3.1.2 | 1.42208E-01 | |
19479 | 1 | R/H | 1 | rs2288569 | 0.5250 | None | 1000 genomes | 2.1246E-01 | |
19479 | 1 | R/H | 1 | rs2288569 | 0.5250 | None | gnomAD-4.0.0 | 1.53386E-01 | |
19479 | 1 | R/L | 1 | rs2288569 | 0.5250 | None | gnomAD-2.1.1 | 4.1E-06 | |
19479 | 1 | R/L | 1 | rs2288569 | 0.5250 | None | gnomAD-4.0.0 | 1.37171E-06 | |
19480 | 2 | P/S | 2 | None | 0.1120 | None | gnomAD-4.0.0 | 3.19982E-06 | |
19482 | 4 | P/L | 4 | rs746380279 | 0.4162 | None | gnomAD-2.1.1 | 4.12E-06 | |
19482 | 4 | P/L | 4 | rs746380279 | 0.4162 | None | gnomAD-4.0.0 | 2.05932E-06 | |
19482 | 4 | P/Q | 4 | None | 0.4162 | None | gnomAD-4.0.0 | 6.86439E-07 | |
19482 | 4 | P/S | 4 | rs758990147 | 0.4162 | None | gnomAD-2.1.1 | 4.09E-06 | |
19482 | 4 | P/S | 4 | rs758990147 | 0.4162 | None | gnomAD-3.1.2 | 1.32E-05 | |
19482 | 4 | P/S | 4 | rs758990147 | 0.4162 | None | gnomAD-4.0.0 | 1.31728E-05 | |
19483 | 5 | P/A | 5 | rs367624056 | 0.1031 | None | gnomAD-2.1.1 | 4.05E-06 | |
19483 | 5 | P/A | 5 | rs367624056 | 0.1031 | None | gnomAD-3.1.2 | 6.59E-06 | |
19483 | 5 | P/A | 5 | rs367624056 | 0.1031 | None | gnomAD-4.0.0 | 5.13346E-06 | |
19483 | 5 | P/R | 5 | rs1329556229 | 0.1031 | None | gnomAD-2.1.1 | 4.05E-06 | |
19483 | 5 | P/R | 5 | rs1329556229 | 0.1031 | None | gnomAD-4.0.0 | 4.78141E-06 | |
19483 | 5 | P/T | 5 | None | 0.1031 | None | gnomAD-2.1.1 | 4.05E-06 | |
19483 | 5 | P/T | 5 | None | 0.1031 | None | gnomAD-4.0.0 | 1.59386E-06 | |
19485 | 7 | G/R | 7 | None | 0.4461 | None | gnomAD-4.0.0 | 6.84572E-07 | |
19486 | 8 | P/L | 8 | None | 0.8506 | None | gnomAD-4.0.0 | 6.84566E-07 | |
19486 | 8 | P/R | 8 | None | 0.8506 | None | gnomAD-4.0.0 | 2.0537E-06 | |
19489 | 11 | F/L | 12 | rs1484820483 | 0.2810 | None | gnomAD-3.1.2 | 1.31E-05 | |
19489 | 11 | F/L | 12 | rs1484820483 | 0.2810 | None | gnomAD-4.0.0 | 3.71989E-06 | |
19490 | 12 | D/E | 13 | rs374118468 | 0.4822 | None | gnomAD-2.1.1 | 8.1E-06 | |
19490 | 12 | D/E | 13 | rs374118468 | 0.4822 | None | gnomAD-3.1.2 | 5.26E-05 | |
19490 | 12 | D/E | 13 | rs374118468 | 0.4822 | None | gnomAD-4.0.0 | 4.10718E-06 | |
19491 | 13 | E/V | 14 | rs2050771375 | 0.3984 | None | gnomAD-3.1.2 | 6.58E-06 | |
19491 | 13 | E/V | 14 | rs2050771375 | 0.3984 | None | gnomAD-4.0.0 | 6.57851E-06 | |
19492 | 14 | V/G | 15 | rs2050770436 | 0.2200 | None | gnomAD-3.1.2 | 6.58E-06 | |
19492 | 14 | V/G | 15 | rs2050770436 | 0.2200 | None | gnomAD-4.0.0 | 6.57938E-06 | |
19492 | 14 | V/L | 15 | rs1224533828 | 0.2200 | None | gnomAD-2.1.1 | 3.19E-05 | |
19492 | 14 | V/L | 15 | rs1224533828 | 0.2200 | None | gnomAD-3.1.2 | 6.58E-06 | |
19492 | 14 | V/L | 15 | rs1224533828 | 0.2200 | None | gnomAD-4.0.0 | 6.5786E-06 | |
19492 | 14 | V/M | 15 | None | 0.2200 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19494 | 16 | K/R | 17 | None | 0.3251 | None | gnomAD-4.0.0 | 1.59297E-06 | |
19496 | 18 | Y/F | 19 | None | 0.2380 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19496 | 18 | Y/S | 19 | None | 0.2380 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19497 | 19 | M/I | 20 | rs752006805 | 0.0648 | None | gnomAD-2.1.1 | 3.19E-05 | |
19497 | 19 | M/I | 20 | rs752006805 | 0.0648 | None | gnomAD-4.0.0 | 2.5327E-05 | |
19497 | 19 | M/T | 20 | rs375365886 | 0.0648 | None | gnomAD-2.1.1 | 8.09E-06 | |
19497 | 19 | M/T | 20 | rs375365886 | 0.0648 | None | gnomAD-3.1.2 | 6.58E-06 | |
19497 | 19 | M/T | 20 | rs375365886 | 0.0648 | None | gnomAD-4.0.0 | 1.30194E-05 | |
19497 | 19 | M/V | 20 | rs754532919 | 0.0648 | None | gnomAD-2.1.1 | 1.21E-05 | |
19497 | 19 | M/V | 20 | rs754532919 | 0.0648 | None | gnomAD-3.1.2 | 6.58E-06 | |
19497 | 19 | M/V | 20 | rs754532919 | 0.0648 | None | gnomAD-4.0.0 | 6.41185E-06 | |
19500 | 22 | S/F | 23 | rs1465284889 | 0.1780 | None | gnomAD-2.1.1 | 4.04E-06 | |
19500 | 22 | S/F | 23 | rs1465284889 | 0.1780 | None | gnomAD-4.0.0 | 6.8451E-07 | |
19503 | 25 | P/A | 26 | rs762898731 | 0.4541 | None | gnomAD-2.1.1 | 4.04E-06 | |
19503 | 25 | P/A | 26 | rs762898731 | 0.4541 | None | gnomAD-4.0.0 | 1.59279E-06 | |
19503 | 25 | P/L | 26 | rs2050765996 | 0.4541 | None | gnomAD-3.1.2 | 6.58E-06 | |
19503 | 25 | P/S | 26 | rs762898731 | 0.4541 | None | gnomAD-2.1.1 | 4.04E-06 | |
19503 | 25 | P/S | 26 | rs762898731 | 0.4541 | None | gnomAD-4.0.0 | 1.59279E-06 | |
19504 | 26 | P/L | 27 | rs1454300536 | 0.1611 | None | gnomAD-2.1.1 | 4.04E-06 | |
19504 | 26 | P/L | 27 | rs1454300536 | 0.1611 | None | gnomAD-4.0.0 | 6.84479E-07 | |
19504 | 26 | P/R | 27 | None | 0.1611 | None | gnomAD-4.0.0 | 6.84479E-07 | |
19506 | 28 | D/E | 29 | rs1238125586 | 0.6338 | None | gnomAD-2.1.1 | 1.21E-05 | |
19506 | 28 | D/E | 29 | rs1238125586 | 0.6338 | None | gnomAD-4.0.0 | 2.87473E-05 | |
19506 | 28 | D/G | 29 | None | 0.6338 | None | gnomAD-4.0.0 | 1.20037E-06 | |
19507 | 29 | D/V | 30 | rs1177368382 | 0.2645 | None | gnomAD-2.1.1 | 4.04E-06 | |
19508 | 30 | G/E | 31 | None | 0.3043 | None | gnomAD-4.0.0 | 2.40065E-06 | |
19509 | 31 | G/S | 32 | rs1251770626 | 0.5876 | None | gnomAD-2.1.1 | 4.04E-06 | |
19509 | 31 | G/S | 32 | rs1251770626 | 0.5876 | None | gnomAD-4.0.0 | 1.59255E-06 | |
19510 | 32 | S/G | 33 | None | 0.1856 | None | gnomAD-4.0.0 | 1.59249E-06 | |
19510 | 32 | S/N | 33 | rs1209004438 | 0.1856 | None | gnomAD-4.0.0 | 1.59249E-06 | |
19512 | 34 | I/T | 35 | rs1343150103 | 0.1902 | None | gnomAD-2.1.1 | 4.04E-06 | |
19512 | 34 | I/T | 35 | rs1343150103 | 0.1902 | None | gnomAD-4.0.0 | 1.59241E-06 | |
19514 | 36 | N/D | 37 | rs765019992 | 0.2562 | None | gnomAD-2.1.1 | 8.07E-06 | |
19514 | 36 | N/D | 37 | rs765019992 | 0.2562 | None | gnomAD-4.0.0 | 6.84408E-07 | |
19514 | 36 | N/H | 37 | None | 0.2562 | None | gnomAD-4.0.0 | 6.84408E-07 | |
19514 | 36 | N/S | 37 | rs761612554 | 0.2562 | None | gnomAD-2.1.1 | 4.03E-06 | |
19514 | 36 | N/S | 37 | rs761612554 | 0.2562 | None | gnomAD-4.0.0 | 2.05323E-06 | |
19515 | 37 | Y/C | 38 | rs1353143854 | 0.1073 | None | gnomAD-2.1.1 | 4.03E-06 | |
19515 | 37 | Y/C | 38 | rs1353143854 | 0.1073 | None | gnomAD-4.0.0 | 6.84406E-06 | |
19516 | 38 | I/V | 39 | rs776824040 | 0.2219 | None | gnomAD-2.1.1 | 4.03E-06 | |
19516 | 38 | I/V | 39 | rs776824040 | 0.2219 | None | gnomAD-4.0.0 | 1.59231E-06 | |
19517 | 39 | I/T | 40 | rs72646838 | 0.0728 | None | gnomAD-2.1.1 | 4.03E-06 | |
19517 | 39 | I/T | 40 | rs72646838 | 0.0728 | None | gnomAD-3.1.2 | 3.29E-05 | |
19517 | 39 | I/T | 40 | rs72646838 | 0.0728 |
ARVC |
Literature | None | |
19517 | 39 | I/T | 40 | rs72646838 | 0.0728 | None | gnomAD-4.0.0 | 1.6116E-05 | |
19518 | 40 | E/D | 41 | rs747066203 | 0.1516 | None | gnomAD-2.1.1 | 4.03E-06 | |
19518 | 40 | E/D | 41 | rs747066203 | 0.1516 | None | gnomAD-4.0.0 | 6.84383E-07 | |
19518 | 40 | E/K | 41 | rs1329313961 | 0.1516 | None | gnomAD-2.1.1 | 4.03E-06 | |
19518 | 40 | E/K | 41 | rs1329313961 | 0.1516 | None | gnomAD-4.0.0 | 1.59227E-06 | |
19519 | 41 | K/E | 42 | rs775586810 | 0.1341 | None | gnomAD-2.1.1 | 4.03E-06 | |
19519 | 41 | K/E | 42 | rs775586810 | 0.1341 | None | gnomAD-4.0.0 | 1.59218E-06 | |
19519 | 41 | K/N | 42 | rs772071197 | 0.1341 | None | gnomAD-2.1.1 | 4.03E-06 | |
19519 | 41 | K/N | 42 | rs772071197 | 0.1341 | None | gnomAD-4.0.0 | 1.59223E-06 | |
19521 | 43 | E/D | 44 | rs1156295835 | 0.2196 | None | gnomAD-2.1.1 | 8.06E-06 | |
19521 | 43 | E/D | 44 | rs1156295835 | 0.2196 | None | gnomAD-4.0.0 | 3.18433E-06 | |
19521 | 43 | E/G | 44 | rs543122164 | 0.2196 | None | gnomAD-2.1.1 | 4.03E-06 | |
19521 | 43 | E/G | 44 | rs543122164 | 0.2196 | None | gnomAD-3.1.2 | 6.58E-06 | |
19521 | 43 | E/G | 44 | rs543122164 | 0.2196 | None | 1000 genomes | 1.99681E-04 | |
19521 | 43 | E/G | 44 | rs543122164 | 0.2196 | None | gnomAD-4.0.0 | 2.56333E-06 | |
19521 | 43 | E/K | 44 | rs746319976 | 0.2196 | None | gnomAD-2.1.1 | 2.02E-05 | |
19521 | 43 | E/K | 44 | rs746319976 | 0.2196 | None | gnomAD-3.1.2 | 1.32E-05 | |
19521 | 43 | E/K | 44 | rs746319976 | 0.2196 | None | gnomAD-4.0.0 | 5.579E-06 | |
19521 | 43 | E/V | 44 | rs543122164 | 0.2196 | None | gnomAD-2.1.1 | 4.03E-06 | |
19526 | 48 | V/F | 64 | rs377682563 | 0.7466 | None | gnomAD-2.1.1 | 4.03E-06 | |
19526 | 48 | V/F | 64 | rs377682563 | 0.7466 | None | gnomAD-4.0.0 | 6.84375E-07 | |
19526 | 48 | V/I | 64 | rs377682563 | 0.7466 | None | gnomAD-2.1.1 | 1.43085E-04 | |
19526 | 48 | V/I | 64 | rs377682563 | 0.7466 | None | gnomAD-3.1.2 | 1.90779E-04 | |
19526 | 48 | V/I | 64 | rs377682563 | 0.7466 | None | 1000 genomes | 1.99681E-04 | |
19526 | 48 | V/I | 64 | rs377682563 | 0.7466 | None | gnomAD-4.0.0 | 3.30376E-04 | |
19528 | 50 | M/T | 66 | None | 0.3924 | None | gnomAD-4.0.0 | 3.60097E-06 | |
19529 | 51 | P/S | 67 | None | 0.6684 | None | gnomAD-4.0.0 | 4.10625E-06 | |
19529 | 51 | P/T | 67 | rs878972430 | 0.6684 | None | gnomAD-2.1.1 | 3.19E-05 | |
19529 | 51 | P/T | 67 | rs878972430 | 0.6684 | None | gnomAD-3.1.2 | 2.63E-05 | |
19529 | 51 | P/T | 67 | rs878972430 | 0.6684 | None | gnomAD-4.0.0 | 3.71945E-06 | |
19530 | 52 | V/A | 68 | rs1187285216 | 0.2773 | None | gnomAD-2.1.1 | 4.03E-06 | |
19530 | 52 | V/A | 68 | rs1187285216 | 0.2773 | None | gnomAD-4.0.0 | 3.18425E-06 | |
19531 | 53 | T/I | 69 | rs1258679826 | 0.2604 | None | gnomAD-4.0.0 | 1.36873E-06 | |
19531 | 53 | T/R | 69 | rs1258679826 | 0.2604 | None | gnomAD-2.1.1 | 4.03E-06 | |
19531 | 53 | T/R | 69 | rs1258679826 | 0.2604 | None | gnomAD-4.0.0 | 6.84366E-07 | |
19533 | 55 | A/P | 75 | rs751194562 | 0.5640 | None | gnomAD-2.1.1 | 4.03E-06 | |
19533 | 55 | A/P | 75 | rs751194562 | 0.5640 | None | gnomAD-4.0.0 | 3.18433E-06 | |
19534 | 56 | S/G | 77 | None | 0.1671 | None | gnomAD-4.0.0 | 1.59211E-06 | |
19534 | 56 | S/N | 77 | rs563833549 | 0.1671 | None | gnomAD-2.1.1 | 3.22E-05 | |
19534 | 56 | S/N | 77 | rs563833549 | 0.1671 | None | gnomAD-3.1.2 | 3.29E-05 | |
19534 | 56 | S/N | 77 | rs563833549 | 0.1671 | None | 1000 genomes | 1.99681E-04 | |
19534 | 56 | S/N | 77 | rs563833549 | 0.1671 | None | gnomAD-4.0.0 | 1.67353E-05 | |
19536 | 58 | K/E | 88 | None | 0.7674 | None | gnomAD-4.0.0 | 3.18421E-06 | |
19537 | 59 | T/R | 89 | None | 0.2245 | None | gnomAD-4.0.0 | 6.84382E-07 | |
19537 | 59 | T/S | 89 | rs750320421 | 0.2245 | None | gnomAD-2.1.1 | 4.03E-06 | |
19537 | 59 | T/S | 89 | rs750320421 | 0.2245 | None | gnomAD-3.1.2 | 1.97E-05 | |
19537 | 59 | T/S | 89 | rs750320421 | 0.2245 | None | gnomAD-4.0.0 | 5.12726E-06 | |
19538 | 60 | T/A | 90 | rs200017524 | 0.3787 | None | gnomAD-2.1.1 | 4.54308E-04 | |
19538 | 60 | T/A | 90 | rs200017524 | 0.3787 | None | gnomAD-3.1.2 | 1.40725E-03 | |
19538 | 60 | T/A | 90 | rs200017524 | 0.3787 | None | 1000 genomes | 1.19808E-03 | |
19538 | 60 | T/A | 90 | rs200017524 | 0.3787 | None | gnomAD-4.0.0 | 2.61564E-04 | |
19538 | 60 | T/I | 90 | rs370686112 | 0.3787 | None | gnomAD-3.1.2 | 6.58E-06 | |
19538 | 60 | T/I | 90 | rs370686112 | 0.3787 | None | gnomAD-4.0.0 | 6.57877E-06 | |
19538 | 60 | T/K | 90 | rs370686112 | 0.3787 | None | gnomAD-2.1.1 | 3.22E-05 | |
19538 | 60 | T/K | 90 | rs370686112 | 0.3787 | None | gnomAD-3.1.2 | 1.0526E-04 | |
19538 | 60 | T/K | 90 | rs370686112 | 0.3787 | None | gnomAD-4.0.0 | 2.54157E-05 | |
19539 | 61 | C/F | 91 | rs539868284 | 0.1504 | None | gnomAD-2.1.1 | 1.21E-05 | |
19539 | 61 | C/F | 91 | rs539868284 | 0.1504 | None | gnomAD-3.1.2 | 6.58E-06 | |
19539 | 61 | C/F | 91 | rs539868284 | 0.1504 | None | gnomAD-4.0.0 | 6.81905E-06 | |
19539 | 61 | C/R | 91 | rs753678261 | 0.1504 | None | gnomAD-2.1.1 | 2.82E-05 | |
19539 | 61 | C/R | 91 | rs753678261 | 0.1504 | None | gnomAD-3.1.2 | 1.97E-05 | |
19539 | 61 | C/R | 91 | rs753678261 | 0.1504 | None | gnomAD-4.0.0 | 1.05377E-05 | |
19539 | 61 | C/S | 91 | rs753678261 | 0.1504 | None | gnomAD-2.1.1 | 4.03E-06 | |
19539 | 61 | C/S | 91 | rs753678261 | 0.1504 | None | gnomAD-4.0.0 | 1.36875E-06 | |
19540 | 62 | K/I | 92 | rs2050741869 | 0.3578 | None | gnomAD-4.0.0 | 1.59229E-06 | |
19541 | 63 | V/A | 93 | rs760841948 | 0.1251 | None | gnomAD-2.1.1 | 4.03E-06 | |
19541 | 63 | V/A | 93 | rs760841948 | 0.1251 | None | gnomAD-4.0.0 | 1.59233E-06 | |
19542 | 64 | S/P | 94 | rs145198325 | 0.3906 | None | gnomAD-2.1.1 | 2.42E-05 | |
19542 | 64 | S/P | 94 | rs145198325 | 0.3906 | None | gnomAD-3.1.2 | 1.05213E-04 | |
19542 | 64 | S/P | 94 | rs145198325 | 0.3906 | None | 1000 genomes | 1.99681E-04 | |
19542 | 64 | S/P | 94 | rs145198325 | 0.3906 | None | gnomAD-4.0.0 | 1.98349E-05 | |
19542 | 64 | S/Y | 94 | None | 0.3906 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19543 | 65 | K/E | 96 | None | 0.8582 | None | gnomAD-4.0.0 | 1.59232E-06 | |
19544 | 66 | L/P | 97 | rs373353480 | 0.1132 | None | gnomAD-3.1.2 | 1.31E-05 | |
19544 | 66 | L/P | 97 | rs373353480 | 0.1132 | None | gnomAD-4.0.0 | 8.97355E-06 | |
19544 | 66 | L/V | 97 | rs772132591 | 0.1132 | None | gnomAD-2.1.1 | 4.03E-06 | |
19544 | 66 | L/V | 97 | rs772132591 | 0.1132 | None | gnomAD-4.0.0 | 4.1066E-06 | |
19546 | 68 | E/Q | 99 | rs201840554 | 0.4781 | None | gnomAD-2.1.1 | 9.91836E-04 | |
19546 | 68 | E/Q | 99 | rs201840554 | 0.4781 | None | gnomAD-3.1.2 | 2.93355E-03 | |
19546 | 68 | E/Q | 99 | rs201840554 | 0.4781 | None | 1000 genomes | 2.19649E-03 | |
19546 | 68 | E/Q | 99 | rs201840554 | 0.4781 | None | gnomAD-4.0.0 | 5.47979E-04 | |
19547 | 69 | G/E | 100 | rs374713701 | 0.2984 | None | gnomAD-2.1.1 | 8.07E-06 | |
19547 | 69 | G/E | 100 | rs374713701 | 0.2984 | None | gnomAD-4.0.0 | 1.57427E-05 | |
19547 | 69 | G/R | 100 | rs886055260 | 0.2984 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19547 | 69 | G/V | 100 | rs374713701 | 0.2984 | None | gnomAD-2.1.1 | 4.03E-06 | |
19547 | 69 | G/V | 100 | rs374713701 | 0.2984 | None | gnomAD-3.1.2 | 2.63E-05 | |
19547 | 69 | G/V | 100 | rs374713701 | 0.2984 | None | gnomAD-4.0.0 | 2.6303E-05 | |
19549 | 71 | D/Y | 103 | rs1472080899 | 0.2773 | None | gnomAD-2.1.1 | 8.07E-06 | |
19549 | 71 | D/Y | 103 | rs1472080899 | 0.2773 | None | gnomAD-3.1.2 | 6.58E-06 | |
19549 | 71 | D/Y | 103 | rs1472080899 | 0.2773 | None | gnomAD-4.0.0 | 4.33978E-06 | |
19550 | 72 | Y/C | 104 | rs770314252 | 0.1103 | None | gnomAD-2.1.1 | 7.17E-06 | |
19550 | 72 | Y/C | 104 | rs770314252 | 0.1103 | None | gnomAD-3.1.2 | 6.57E-06 | |
19550 | 72 | Y/C | 104 | rs770314252 | 0.1103 | None | gnomAD-4.0.0 | 1.17788E-05 | |
19550 | 72 | Y/D | 104 | None | 0.1103 | None | gnomAD-4.0.0 | 1.59279E-06 | |
19550 | 72 | Y/H | 104 | rs2154186587 | 0.1103 | None | gnomAD-3.1.2 | 6.57E-06 | |
19550 | 72 | Y/H | 104 | rs2154186587 | 0.1103 | None | gnomAD-4.0.0 | 2.56394E-06 | |
19551 | 73 | I/V | 105 | rs1264084790 | 0.1920 | None | gnomAD-4.0.0 | 3.18563E-06 | |
19553 | 75 | R/G | 107 | None | 0.1566 | None | gnomAD-2.1.1 | 4.04E-06 | |
19553 | 75 | R/G | 107 | None | 0.1566 | None | gnomAD-3.1.2 | 6.58E-06 | |
19553 | 75 | R/G | 107 | None | 0.1566 | None | gnomAD-4.0.0 | 3.10014E-06 | |
19553 | 75 | R/P | 107 | None | 0.1566 | None | gnomAD-4.0.0 | 3.42273E-06 | |
19553 | 75 | R/Q | 107 | rs543279513 | 0.1566 | None | gnomAD-2.1.1 | 1.08E-05 | |
19553 | 75 | R/Q | 107 | rs543279513 | 0.1566 | None | gnomAD-3.1.2 | 1.97E-05 | |
19553 | 75 | R/Q | 107 | rs543279513 | 0.1566 | None | 1000 genomes | 3.99361E-04 | |
19553 | 75 | R/Q | 107 | rs543279513 | 0.1566 | None | gnomAD-4.0.0 | 7.43962E-06 | |
19553 | 75 | R/W | 107 | rs372959465 | 0.1566 | None | gnomAD-2.1.1 | 1.43E-05 | |
19553 | 75 | R/W | 107 | rs372959465 | 0.1566 | None | gnomAD-3.1.2 | 1.97E-05 | |
19553 | 75 | R/W | 107 | rs372959465 | 0.1566 | None | gnomAD-4.0.0 | 1.30206E-05 | |
19554 | 76 | I/L | 108 | rs879139698 | 0.0577 | None | gnomAD-4.0.0 | 2.40064E-06 | |
19554 | 76 | I/T | 108 | rs974431132 | 0.0577 | None | gnomAD-2.1.1 | 4.04E-06 | |
19554 | 76 | I/T | 108 | rs974431132 | 0.0577 | None | gnomAD-4.0.0 | 3.18593E-06 | |
19555 | 77 | H/R | 109 | None | 0.1784 | None | gnomAD-4.0.0 | 1.59301E-06 | |
19555 | 77 | H/Y | 109 | rs1289211242 | 0.1784 | None | gnomAD-2.1.1 | 4.04E-06 | |
19555 | 77 | H/Y | 109 | rs1289211242 | 0.1784 | None | gnomAD-4.0.0 | 6.84543E-06 | |
19557 | 79 | E/K | 111 | None | 0.2705 | None | gnomAD-4.0.0 | 2.40065E-06 | |
19558 | 80 | N/K | 112 | rs1455635388 | 0.0979 | None | gnomAD-3.1.2 | 6.57E-06 | |
19558 | 80 | N/K | 112 | rs1455635388 | 0.0979 | None | gnomAD-4.0.0 | 6.57445E-06 | |
19558 | 80 | N/S | 112 | rs369224233 | 0.0979 | None | gnomAD-2.1.1 | 7.18E-06 | |
19558 | 80 | N/S | 112 | rs369224233 | 0.0979 | None | gnomAD-3.1.2 | 1.31E-05 | |
19558 | 80 | N/S | 112 | rs369224233 | 0.0979 | None | gnomAD-4.0.0 | 3.84724E-06 | |
19559 | 81 | L/M | 113 | None | 0.7447 | None | gnomAD-4.0.0 | 6.84595E-07 | |
19559 | 81 | L/Q | 113 | rs76604657 | 0.7447 | None | gnomAD-2.1.1 | 1.43533E-04 | |
19559 | 81 | L/Q | 113 | rs76604657 | 0.7447 | None | gnomAD-3.1.2 | 1.18315E-04 | |
19559 | 81 | L/Q | 113 | rs76604657 | 0.7447 | None | 1000 genomes | 5.99042E-04 | |
19559 | 81 | L/Q | 113 | rs76604657 | 0.7447 | None | gnomAD-4.0.0 | 1.76068E-04 | |
19559 | 81 | L/V | 113 | None | 0.7447 | None | gnomAD-4.0.0 | 6.84595E-07 | |
19561 | 83 | G/A | 115 | rs372491628 | 0.1993 | None | gnomAD-2.1.1 | 4.05E-06 | |
19561 | 83 | G/A | 115 | rs372491628 | 0.1993 | None | gnomAD-3.1.2 | 6.58E-06 | |
19561 | 83 | G/A | 115 | rs372491628 | 0.1993 | None | gnomAD-4.0.0 | 4.34038E-06 | |
19561 | 83 | G/E | 115 | rs372491628 | 0.1993 | None | gnomAD-2.1.1 | 4.05E-06 | |
19561 | 83 | G/R | 115 | rs760399687 | 0.1993 | None | gnomAD-2.1.1 | 4.05E-06 | |
19561 | 83 | G/R | 115 | rs760399687 | 0.1993 | None | gnomAD-3.1.2 | 6.58E-06 | |
19561 | 83 | G/R | 115 | rs760399687 | 0.1993 | None | gnomAD-4.0.0 | 5.1307E-06 | |
19562 | 84 | I/L | 117 | rs397517637 | 0.4633 | None | gnomAD-2.1.1 | 7.18E-06 | |
19562 | 84 | I/L | 117 | rs397517637 | 0.4633 | None | gnomAD-3.1.2 | 6.57E-06 | |
19562 | 84 | I/L | 117 | rs397517637 | 0.4633 | None | gnomAD-4.0.0 | 6.57272E-06 | |
19562 | 84 | I/R | 117 | None | 0.4633 | None | gnomAD-4.0.0 | 4.80129E-06 | |
19562 | 84 | I/V | 117 | rs397517637 | 0.4633 | None | gnomAD-4.0.0 | 6.00164E-06 | |
19563 | 85 | S/N | 118 | rs759628569 | 0.0857 | None | gnomAD-2.1.1 | 8.09E-06 | |
19563 | 85 | S/N | 118 | rs759628569 | 0.0857 | None | gnomAD-3.1.2 | 1.97E-05 | |
19563 | 85 | S/N | 118 | rs759628569 | 0.0857 | None | gnomAD-4.0.0 | 1.79818E-05 | |
19564 | 86 | D/E | 119 | rs1236959839 | 0.6103 | None | gnomAD-2.1.1 | 3.19E-05 | |
19564 | 86 | D/E | 119 | rs1236959839 | 0.6103 | None | gnomAD-3.1.2 | 6.57E-06 | |
19564 | 86 | D/E | 119 | rs1236959839 | 0.6103 | None | gnomAD-4.0.0 | 6.08982E-06 | |
19564 | 86 | D/N | 119 | rs182400450 | 0.6103 | None | gnomAD-2.1.1 | 4.05E-06 | |
19564 | 86 | D/N | 119 | rs182400450 | 0.6103 | None | gnomAD-3.1.2 | 6.57E-06 | |
19564 | 86 | D/N | 119 | rs182400450 | 0.6103 | None | 1000 genomes | 1.99681E-04 | |
19564 | 86 | D/N | 119 | rs182400450 | 0.6103 | None | gnomAD-4.0.0 | 6.56961E-06 | |
19564 | 86 | D/Y | 119 | None | 0.6103 | None | gnomAD-4.0.0 | 3.18728E-06 | |
19565 | 87 | P/H | 120 | None | 0.3359 | None | gnomAD-4.0.0 | 2.40065E-06 | |
19565 | 87 | P/L | 120 | rs878880222 | 0.3359 | None | gnomAD-2.1.1 | 3.19E-05 | |
19565 | 87 | P/L | 120 | rs878880222 | 0.3359 | None | gnomAD-3.1.2 | 1.97E-05 | |
19565 | 87 | P/L | 120 | rs878880222 | 0.3359 | None | gnomAD-4.0.0 | 1.97306E-05 | |
19567 | 89 | V/A | 122 | rs763514219 | 0.3777 | None | gnomAD-2.1.1 | 4.05E-06 | |
19567 | 89 | V/A | 122 | rs763514219 | 0.3777 | None | gnomAD-4.0.0 | 1.02704E-05 | |
19567 | 89 | V/L | 122 | None | 0.3777 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19567 | 89 | V/M | 122 | rs1448926202 | 0.3777 | None | gnomAD-2.1.1 | 3.19E-05 | |
19567 | 89 | V/M | 122 | rs1448926202 | 0.3777 | None | gnomAD-3.1.2 | 1.32E-05 | |
19567 | 89 | V/M | 122 | rs1448926202 | 0.3777 | None | gnomAD-4.0.0 | 1.31544E-05 | |
19568 | 90 | S/C | 123 | rs1465396608 | 0.1440 | None | gnomAD-2.1.1 | 4.05E-06 | |
19568 | 90 | S/C | 123 | rs1465396608 | 0.1440 | None | gnomAD-4.0.0 | 1.59417E-06 | |
19569 | 91 | D/N | 125 | rs397517638 | 0.9253 | None | gnomAD-2.1.1 | 8.11E-06 | |
19569 | 91 | D/N | 125 | rs397517638 | 0.9253 | None | gnomAD-3.1.2 | 6.58E-06 | |
19569 | 91 | D/N | 125 | rs397517638 | 0.9253 | None | gnomAD-4.0.0 | 1.86072E-06 | |
19571 | 93 | M/V | 127 | rs770228515 | 0.1882 | None | gnomAD-2.1.1 | 8.11E-06 | |
19571 | 93 | M/V | 127 | rs770228515 | 0.1882 | None | gnomAD-4.0.0 | 8.90388E-06 | |
19574 | 96 | K/E | 131 | rs1032128606 | 0.6722 | None | gnomAD-3.1.2 | 6.57E-06 | |
19574 | 96 | K/E | 131 | rs1032128606 | 0.6722 | None | gnomAD-4.0.0 | 6.57376E-06 | |
19575 | 97 | D/Y | 132 | rs748522705 | 0.4854 | None | gnomAD-2.1.1 | 4.07E-06 | |
19575 | 97 | D/Y | 132 | rs748522705 | 0.4854 | None | gnomAD-4.0.0 | 1.5961E-06 |