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A | E | I | K | A | F | S | T | Q | M | S | I | N | E | G | Q | R | L | V | L | K | A | N | I | A | G | A | T | D | V | K | W | V | L | N | G | V | E | L | T | N | S | E | E | Y | R | Y | G | V | S | G | S | D | Q | T | L | T | I | K | Q | A | S | H | R | D | E | G | I | L | T | C | I | S | K | T | K | E | G | I | V | K | C | Q | Y | D | L | T | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | L |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
35607 | 1 | A/D | 1 | None | 0.9972 | None | gnomAD-4.0.0 | 6.8414E-07 | |
35607 | 1 | A/V | 1 | rs377337528 | 0.9972 | None | gnomAD-2.1.1 | 1.21232E-04 | |
35607 | 1 | A/V | 1 | rs377337528 | 0.9972 | None | gnomAD-3.1.2 | 9.2E-05 | |
35607 | 1 | A/V | 1 | rs377337528 | 0.9972 | None | gnomAD-4.0.0 | 1.69162E-04 | |
35608 | 2 | E/A | 2 | None | 0.6817 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35608 | 2 | E/K | 2 | rs766501757 | 0.6817 | None | gnomAD-2.1.1 | 4.02E-06 | |
35608 | 2 | E/K | 2 | rs766501757 | 0.6817 | None | gnomAD-4.0.0 | 1.5909E-06 | |
35609 | 3 | I/M | 3 | rs727504540 | 0.3836 | None | gnomAD-2.1.1 | 3.03063E-04 | |
35609 | 3 | I/M | 3 | rs727504540 | 0.3836 | None | gnomAD-3.1.2 | 2.63E-05 | |
35609 | 3 | I/M | 3 | rs727504540 | 0.3836 | None | gnomAD-4.0.0 | 6.56804E-05 | |
35609 | 3 | I/N | 3 | None | 0.3836 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35609 | 3 | I/V | 3 | rs573508906 | 0.3836 | None | gnomAD-2.1.1 | 4.02E-06 | |
35609 | 3 | I/V | 3 | rs573508906 | 0.3836 | None | gnomAD-3.1.2 | 6.57E-06 | |
35609 | 3 | I/V | 3 | rs573508906 | 0.3836 | None | 1000 genomes | 1.99681E-04 | |
35609 | 3 | I/V | 3 | rs573508906 | 0.3836 | None | gnomAD-4.0.0 | 2.0295E-06 | |
35610 | 4 | K/E | 4 | rs753984036 | 0.9380 | None | gnomAD-2.1.1 | 1.2E-05 | |
35610 | 4 | K/E | 4 | rs753984036 | 0.9380 | None | gnomAD-3.1.2 | 1.97E-05 | |
35610 | 4 | K/E | 4 | rs753984036 | 0.9380 | None | gnomAD-4.0.0 | 3.53176E-05 | |
35611 | 5 | A/E | 5 | None | 0.4470 | None | gnomAD-4.0.0 | 6.84139E-07 | |
35611 | 5 | A/G | 5 | None | 0.4470 | None | gnomAD-4.0.0 | 6.84139E-07 | |
35611 | 5 | A/P | 5 | rs1304855425 | 0.4470 | None | gnomAD-2.1.1 | 8.03E-06 | |
35611 | 5 | A/P | 5 | rs1304855425 | 0.4470 | None | gnomAD-4.0.0 | 2.52068E-05 | |
35611 | 5 | A/V | 5 | None | 0.4470 | None | gnomAD-4.0.0 | 6.84139E-07 | |
35612 | 6 | F/S | 7 | rs762372340 | 0.8304 | None | gnomAD-2.1.1 | 4.01E-06 | |
35612 | 6 | F/S | 7 | rs762372340 | 0.8304 | None | gnomAD-3.1.2 | 1.31E-05 | |
35612 | 6 | F/S | 7 | rs762372340 | 0.8304 | None | gnomAD-4.0.0 | 3.71768E-06 | |
35613 | 7 | S/A | 8 | rs374405802 | 0.5125 | None | gnomAD-2.1.1 | 5.7E-05 | |
35613 | 7 | S/A | 8 | rs374405802 | 0.5125 | None | gnomAD-3.1.2 | 5.25E-05 | |
35613 | 7 | S/A | 8 | rs374405802 | 0.5125 | None | gnomAD-4.0.0 | 3.09802E-05 | |
35613 | 7 | S/P | 8 | rs374405802 | 0.5125 | None | gnomAD-2.1.1 | 8.03E-06 | |
35613 | 7 | S/P | 8 | rs374405802 | 0.5125 | None | gnomAD-3.1.2 | 1.97E-05 | |
35613 | 7 | S/P | 8 | rs374405802 | 0.5125 | None | gnomAD-4.0.0 | 1.97052E-05 | |
35614 | 8 | T/S | 9 | rs2154131436 | 0.4284 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35616 | 10 | M/R | 13 | None | 0.2878 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35616 | 10 | M/T | 13 | None | 0.2878 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35616 | 10 | M/V | 13 | None | 0.2878 | None | gnomAD-4.0.0 | 1.36828E-06 | |
35618 | 12 | I/M | 16 | rs1687755639 | 0.1525 | None | gnomAD-4.0.0 | 3.18176E-06 | |
35618 | 12 | I/R | 16 | None | 0.1525 | None | gnomAD-4.0.0 | 6.84139E-07 | |
35618 | 12 | I/T | 16 | rs1575194805 | 0.1525 | None | gnomAD-3.1.2 | 6.57E-06 | |
35618 | 12 | I/T | 16 | rs1575194805 | 0.1525 | None | gnomAD-4.0.0 | 2.47842E-06 | |
35619 | 13 | N/H | 18 | None | 0.3601 | None | gnomAD-4.0.0 | 2.40064E-06 | |
35619 | 13 | N/I | 18 | None | 0.3601 | None | gnomAD-4.0.0 | 6.84139E-06 | |
35619 | 13 | N/K | 18 | rs116604145 | 0.3601 | None | gnomAD-4.0.0 | 1.36828E-06 | |
35620 | 14 | E/K | 23 | rs377593605 | 0.5919 | None | gnomAD-2.1.1 | 1.61E-05 | |
35620 | 14 | E/K | 23 | rs377593605 | 0.5919 | None | gnomAD-3.1.2 | 3.94E-05 | |
35620 | 14 | E/K | 23 | rs377593605 | 0.5919 | None | 1000 genomes | 1.99681E-04 | |
35620 | 14 | E/K | 23 | rs377593605 | 0.5919 | None | gnomAD-4.0.0 | 1.48699E-05 | |
35621 | 15 | G/A | 24 | None | 0.3357 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35621 | 15 | G/D | 24 | None | 0.3357 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35622 | 16 | Q/E | 25 | rs748846449 | 0.3411 | None | gnomAD-2.1.1 | 4.02E-06 | |
35622 | 16 | Q/E | 25 | rs748846449 | 0.3411 | None | gnomAD-4.0.0 | 1.59089E-06 | |
35623 | 17 | R/I | 26 | rs777105439 | 0.6215 | None | gnomAD-2.1.1 | 8.03E-06 | |
35623 | 17 | R/S | 26 | None | 0.6215 | None | gnomAD-4.0.0 | 6.84143E-07 | |
35625 | 19 | V/L | 29 | rs1687747331 | 0.4058 | None | gnomAD-4.0.0 | 1.59091E-06 | |
35626 | 20 | L/V | 30 | rs373152640 | 0.1378 | None | gnomAD-2.1.1 | 4.64E-05 | |
35626 | 20 | L/V | 30 | rs373152640 | 0.1378 | None | gnomAD-3.1.2 | 6.57E-05 | |
35626 | 20 | L/V | 30 | rs373152640 | 0.1378 | None | 1000 genomes | 5.99042E-04 | |
35626 | 20 | L/V | 30 | rs373152640 | 0.1378 | None | gnomAD-4.0.0 | 4.39903E-05 | |
35627 | 21 | K/R | 31 | rs1284079251 | 0.4515 | None | gnomAD-3.1.2 | 6.57E-06 | |
35627 | 21 | K/R | 31 | rs1284079251 | 0.4515 | None | gnomAD-4.0.0 | 6.56935E-06 | |
35628 | 22 | A/G | 33 | rs748131753 | 0.1171 | None | gnomAD-2.1.1 | 1.2E-05 | |
35628 | 22 | A/G | 33 | rs748131753 | 0.1171 | None | gnomAD-4.0.0 | 6.84145E-06 | |
35629 | 23 | N/S | 34 | rs781094190 | 0.6005 | None | gnomAD-2.1.1 | 1.61E-05 | |
35629 | 23 | N/S | 34 | rs781094190 | 0.6005 | None | gnomAD-4.0.0 | 9.57799E-06 | |
35630 | 24 | I/V | 35 | rs754830278 | 0.1867 | None | gnomAD-2.1.1 | 4.02E-06 | |
35630 | 24 | I/V | 35 | rs754830278 | 0.1867 | None | gnomAD-4.0.0 | 1.5909E-06 | |
35631 | 25 | A/T | 38 | None | 0.6747 | None | gnomAD-4.0.0 | 1.36829E-06 | |
35632 | 26 | G/D | 40 | rs1210557316 | 0.5417 | None | gnomAD-3.1.2 | 6.57E-06 | |
35632 | 26 | G/D | 40 | rs1210557316 | 0.5417 | None | gnomAD-4.0.0 | 1.23928E-06 | |
35632 | 26 | G/V | 40 | rs1210557316 | 0.5417 | None | gnomAD-4.0.0 | 6.84146E-07 | |
35633 | 27 | A/T | 41 | rs766681840 | 0.2449 | None | gnomAD-4.0.0 | 2.40064E-06 | |
35634 | 28 | T/A | 44 | None | 0.4947 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35635 | 29 | D/E | 45 | rs1255745337 | 0.5664 | None | gnomAD-2.1.1 | 4.02E-06 | |
35635 | 29 | D/E | 45 | rs1255745337 | 0.5664 | None | gnomAD-4.0.0 | 1.3683E-06 | |
35635 | 29 | D/H | 45 | None | 0.5664 | None | gnomAD-4.0.0 | 6.8415E-07 | |
35635 | 29 | D/N | 45 | None | 0.5664 | None | gnomAD-4.0.0 | 1.3683E-06 | |
35636 | 30 | V/G | 46 | rs1482221696 | 0.2951 | None | gnomAD-3.1.2 | 6.57E-06 | |
35636 | 30 | V/G | 46 | rs1482221696 | 0.2951 | None | gnomAD-4.0.0 | 6.57289E-06 | |
35636 | 30 | V/M | 46 | rs751243461 | 0.2951 | None | gnomAD-2.1.1 | 7.13E-06 | |
35636 | 30 | V/M | 46 | rs751243461 | 0.2951 | None | gnomAD-3.1.2 | 6.57E-06 | |
35636 | 30 | V/M | 46 | rs751243461 | 0.2951 | None | gnomAD-4.0.0 | 1.17727E-05 | |
35637 | 31 | K/N | 47 | rs767045071 | 0.4142 | None | gnomAD-4.0.0 | 1.91561E-05 | |
35638 | 32 | W/C | 48 | rs758497512 | 0.1176 | None | gnomAD-2.1.1 | 8.03E-06 | |
35638 | 32 | W/C | 48 | rs758497512 | 0.1176 | None | gnomAD-4.0.0 | 6.84157E-07 | |
35638 | 32 | W/R | 48 | rs1408667252 | 0.1176 | None | gnomAD-3.1.2 | 6.57E-06 | |
35638 | 32 | W/R | 48 | rs1408667252 | 0.1176 | None | gnomAD-4.0.0 | 6.84151E-07 | |
35639 | 33 | V/A | 49 | None | 0.1668 | None | gnomAD-4.0.0 | 1.59095E-06 | |
35639 | 33 | V/I | 49 | rs557752216 | 0.1668 | None | gnomAD-4.0.0 | 1.3683E-06 | |
35639 | 33 | V/L | 49 | rs557752216 | 0.1668 | None | 1000 genomes | 1.99681E-04 | |
35639 | 33 | V/L | 49 | rs557752216 | 0.1668 | None | gnomAD-4.0.0 | 2.05245E-06 | |
35640 | 34 | L/P | 50 | rs750550267 | 0.1642 | None | gnomAD-2.1.1 | 1.07E-05 | |
35640 | 34 | L/P | 50 | rs750550267 | 0.1642 | None | gnomAD-4.0.0 | 2.05246E-06 | |
35640 | 34 | L/R | 50 | rs750550267 | 0.1642 | None | gnomAD-2.1.1 | 1.21E-05 | |
35640 | 34 | L/R | 50 | rs750550267 | 0.1642 | None | gnomAD-4.0.0 | 2.73662E-06 | |
35641 | 35 | N/H | 51 | None | 0.5099 | None | gnomAD-4.0.0 | 2.73661E-06 | |
35641 | 35 | N/K | 51 | None | 0.5099 | None | gnomAD-4.0.0 | 4.80129E-06 | |
35642 | 36 | G/D | 52 | rs1553480410 | 0.4975 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35643 | 37 | V/A | 55 | rs1339468653 | 0.6242 | None | gnomAD-2.1.1 | 7.14E-06 | |
35643 | 37 | V/A | 55 | rs1339468653 | 0.6242 | None | gnomAD-3.1.2 | 6.57E-06 | |
35643 | 37 | V/A | 55 | rs1339468653 | 0.6242 | None | gnomAD-4.0.0 | 1.85898E-06 | |
35643 | 37 | V/I | 55 | rs754459138 | 0.6242 | None | gnomAD-2.1.1 | 6.07E-05 | |
35643 | 37 | V/I | 55 | rs754459138 | 0.6242 | None | gnomAD-3.1.2 | 3.94E-05 | |
35643 | 37 | V/I | 55 | rs754459138 | 0.6242 |
HCM |
Literature | None | |
35643 | 37 | V/I | 55 | rs754459138 | 0.6242 | None | gnomAD-4.0.0 | 9.85272E-05 | |
35646 | 40 | T/A | 59 | rs1558970634 | 0.7390 | None | gnomAD-2.1.1 | 4.02E-06 | |
35646 | 40 | T/A | 59 | rs1558970634 | 0.7390 | None | gnomAD-4.0.0 | 1.59133E-06 | |
35647 | 41 | N/S | 70 | None | 0.4772 | None | gnomAD-4.0.0 | 2.05272E-06 | |
35648 | 42 | S/P | 73 | None | 0.2149 | None | gnomAD-4.0.0 | 2.05272E-06 | |
35649 | 43 | E/D | 111 | rs764693838 | 0.6798 | None | gnomAD-2.1.1 | 4.02E-06 | |
35652 | 46 | R/G | 122 | rs565675340 | 0.5488 | None | gnomAD-2.1.1 | 4.02E-06 | |
35652 | 46 | R/G | 122 | rs565675340 | 0.5488 | None | gnomAD-4.0.0 | 1.369E-06 | |
35652 | 46 | R/Q | 122 | rs200497615 | 0.5488 | None | gnomAD-2.1.1 | 1.64394E-04 | |
35652 | 46 | R/Q | 122 | rs200497615 | 0.5488 | None | gnomAD-3.1.2 | 1.70862E-04 | |
35652 | 46 | R/Q | 122 | rs200497615 | 0.5488 | None | gnomAD-4.0.0 | 3.97383E-04 | |
35653 | 47 | Y/D | 123 | rs886042500 | 0.3269 | None | gnomAD-2.1.1 | 4.02E-06 | |
35653 | 47 | Y/D | 123 | rs886042500 | 0.3269 | None | gnomAD-3.1.2 | 6.57E-06 | |
35653 | 47 | Y/D | 123 | rs886042500 | 0.3269 | None | gnomAD-4.0.0 | 2.05115E-05 | |
35654 | 48 | G/S | 125 | None | 0.3437 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35656 | 50 | S/L | 130 | None | 0.5129 | None | gnomAD-4.0.0 | 1.5942E-06 | |
35657 | 51 | G/D | 131 | None | 0.6029 | None | gnomAD-4.0.0 | 1.59445E-06 | |
35657 | 51 | G/S | 131 | rs2154131322 | 0.6029 | None | gnomAD-4.0.0 | 1.59416E-06 | |
35658 | 52 | S/N | 134 | rs772898540 | 0.3467 | None | gnomAD-2.1.1 | 8.06E-06 | |
35658 | 52 | S/N | 134 | rs772898540 | 0.3467 | None | gnomAD-4.0.0 | 2.05438E-06 | |
35659 | 53 | D/N | 135 | rs878992336 | 0.2217 | None | gnomAD-2.1.1 | 1.43E-05 | |
35659 | 53 | D/N | 135 | rs878992336 | 0.2217 | None | gnomAD-3.1.2 | 3.94E-05 | |
35659 | 53 | D/N | 135 | rs878992336 | 0.2217 | None | gnomAD-4.0.0 | 7.44257E-06 | |
35659 | 53 | D/Y | 135 | None | 0.2217 | None | gnomAD-4.0.0 | 6.84829E-07 | |
35660 | 54 | Q/H | 136 | None | 0.1963 | None | gnomAD-4.0.0 | 2.40064E-06 | |
35660 | 54 | Q/R | 136 | rs1258652838 | 0.1963 | None | gnomAD-2.1.1 | 4.03E-06 | |
35660 | 54 | Q/R | 136 | rs1258652838 | 0.1963 | None | gnomAD-4.0.0 | 1.59397E-06 | |
35661 | 55 | T/I | 137 | rs747649004 | 0.1626 | None | gnomAD-2.1.1 | 8.06E-06 | |
35661 | 55 | T/I | 137 | rs747649004 | 0.1626 | None | gnomAD-3.1.2 | 6.57E-06 | |
35661 | 55 | T/I | 137 | rs747649004 | 0.1626 | None | gnomAD-4.0.0 | 6.57462E-06 | |
35662 | 56 | L/P | 138 | None | 0.0836 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35663 | 57 | T/S | 139 | None | 0.2199 | None | gnomAD-4.0.0 | 4.80129E-06 | |
35664 | 58 | I/F | 140 | rs781108499 | 0.1627 | None | gnomAD-2.1.1 | 4.03E-06 | |
35664 | 58 | I/F | 140 | rs781108499 | 0.1627 | None | gnomAD-4.0.0 | 6.84571E-07 | |
35664 | 58 | I/S | 140 | rs1060500501 | 0.1627 | None | gnomAD-2.1.1 | 4.03E-06 | |
35664 | 58 | I/S | 140 | rs1060500501 | 0.1627 | None | gnomAD-4.0.0 | 6.84664E-07 | |
35664 | 58 | I/T | 140 | None | 0.1627 | None | gnomAD-4.0.0 | 6.84664E-07 | |
35664 | 58 | I/V | 140 | rs781108499 | 0.1627 | None | gnomAD-2.1.1 | 1.21E-05 | |
35664 | 58 | I/V | 140 | rs781108499 | 0.1627 | None | gnomAD-4.0.0 | 1.71143E-05 | |
35665 | 59 | K/R | 141 | rs746841189 | 0.2985 | None | gnomAD-2.1.1 | 7.16E-06 | |
35665 | 59 | K/R | 141 | rs746841189 | 0.2985 | None | gnomAD-3.1.2 | 1.97E-05 | |
35665 | 59 | K/R | 141 | rs746841189 | 0.2985 | None | gnomAD-4.0.0 | 5.12888E-06 | |
35666 | 60 | Q/E | 143 | rs750660824 | 0.6831 | None | gnomAD-2.1.1 | 1.44E-05 | |
35666 | 60 | Q/E | 143 | rs750660824 | 0.6831 | None | gnomAD-3.1.2 | 3.29E-05 | |
35666 | 60 | Q/E | 143 | rs750660824 | 0.6831 | None | gnomAD-4.0.0 | 1.30299E-05 | |
35666 | 60 | Q/K | 143 | None | 0.6831 | None | gnomAD-3.1.2 | 2.63E-05 | |
35666 | 60 | Q/K | 143 | None | 0.6831 | None | gnomAD-4.0.0 | 2.35783E-05 | |
35666 | 60 | Q/R | 143 | None | 0.6831 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35668 | 62 | S/N | 145 | rs1687674300 | 0.1918 | None | gnomAD-4.0.0 | 3.18635E-06 | |
35668 | 62 | S/R | 145 | rs779265208 | 0.1918 | None | gnomAD-2.1.1 | 2.82E-05 | |
35668 | 62 | S/R | 145 | rs779265208 | 0.1918 | None | gnomAD-4.0.0 | 4.10724E-06 | |
35670 | 64 | R/G | 148 | None | 0.7047 | None | gnomAD-4.0.0 | 1.59281E-06 | |
35670 | 64 | R/T | 148 | rs534961012 | 0.7047 | None | gnomAD-2.1.1 | 3.58E-05 | |
35670 | 64 | R/T | 148 | rs534961012 | 0.7047 | None | gnomAD-3.1.2 | 3.94E-05 | |
35670 | 64 | R/T | 148 | rs534961012 | 0.7047 | None | 1000 genomes | 3.99361E-04 | |
35670 | 64 | R/T | 148 | rs534961012 | 0.7047 | None | gnomAD-4.0.0 | 3.34728E-05 | |
35671 | 65 | D/N | 149 | rs1397922467 | 0.2126 | None | gnomAD-2.1.1 | 4.03E-06 | |
35671 | 65 | D/N | 149 | rs1397922467 | 0.2126 | None | gnomAD-4.0.0 | 2.05345E-06 | |
35672 | 66 | E/D | 151 | rs753906444 | 0.3848 | None | gnomAD-2.1.1 | 4.03E-06 | |
35672 | 66 | E/D | 151 | rs753906444 | 0.3848 | None | gnomAD-4.0.0 | 1.59256E-06 | |
35672 | 66 | E/K | 151 | None | 0.3848 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35673 | 67 | G/R | 152 | rs786205290 | 0.2013 | None | gnomAD-4.0.0 | 6.84448E-07 | |
35673 | 67 | G/V | 152 | None | 0.2013 | None | gnomAD-4.0.0 | 1.59261E-06 | |
35675 | 69 | L/P | 154 | None | 0.0979 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35676 | 70 | T/I | 155 | rs764714213 | 0.2152 | None | gnomAD-2.1.1 | 1.61E-05 | |
35676 | 70 | T/I | 155 | rs764714213 | 0.2152 | None | gnomAD-4.0.0 | 6.36772E-06 | |
35677 | 71 | C/R | 156 | None | 0.0864 | None | gnomAD-4.0.0 | 3.42172E-06 | |
35678 | 72 | I/K | 157 | rs1558969484 | 0.3120 | None | gnomAD-2.1.1 | 4.03E-06 | |
35678 | 72 | I/K | 157 | rs1558969484 | 0.3120 | None | gnomAD-4.0.0 | 2.73723E-06 | |
35678 | 72 | I/M | 157 | None | 0.3120 | None | gnomAD-4.0.0 | 1.59179E-06 | |
35678 | 72 | I/T | 157 | None | 0.3120 | None | gnomAD-4.0.0 | 6.84307E-07 | |
35678 | 72 | I/V | 157 | rs1404746485 | 0.3120 | None | gnomAD-2.1.1 | 4.03E-06 | |
35678 | 72 | I/V | 157 | rs1404746485 | 0.3120 | None | gnomAD-4.0.0 | 1.59176E-06 | |
35679 | 73 | S/G | 158 | rs2154131258 | 0.1205 | None | gnomAD-4.0.0 | 1.59189E-06 | |
35679 | 73 | S/N | 158 | None | 0.1205 | None | gnomAD-4.0.0 | 1.59199E-06 | |
35681 | 75 | T/S | 161 | None | 0.2352 | None | gnomAD-4.0.0 | 2.40064E-06 | |
35683 | 77 | E/K | 163 | None | 0.8583 | None | gnomAD-4.0.0 | 1.5918E-06 | |
35684 | 78 | G/E | 164 | None | 0.2327 | None | gnomAD-4.0.0 | 1.59186E-06 | |
35684 | 78 | G/R | 164 | rs761040950 | 0.2327 | None | gnomAD-2.1.1 | 2.02E-05 | |
35684 | 78 | G/R | 164 | rs761040950 | 0.2327 | None | gnomAD-3.1.2 | 1.31E-05 | |
35684 | 78 | G/R | 164 | rs761040950 | 0.2327 | None | gnomAD-4.0.0 | 1.05364E-05 | |
35685 | 79 | I/F | 165 | None | 0.5377 | None | gnomAD-4.0.0 | 1.59179E-06 | |
35686 | 80 | V/G | 166 | None | 0.2170 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35686 | 80 | V/I | 166 | rs751581732 | 0.2170 | None | gnomAD-2.1.1 | 2.42E-05 | |
35686 | 80 | V/I | 166 | rs751581732 | 0.2170 | None | gnomAD-3.1.2 | 1.97E-05 | |
35686 | 80 | V/I | 166 | rs751581732 | 0.2170 | None | gnomAD-4.0.0 | 3.59507E-05 | |
35687 | 81 | K/N | 168 | rs113190638 | 0.4051 | None | gnomAD-2.1.1 | 4.03E-06 | |
35687 | 81 | K/N | 168 | rs113190638 | 0.4051 | None | gnomAD-4.0.0 | 3.42177E-06 | |
35687 | 81 | K/R | 168 | rs764684882 | 0.4051 | None | gnomAD-2.1.1 | 7.16E-06 | |
35687 | 81 | K/R | 168 | rs764684882 | 0.4051 | None | gnomAD-3.1.2 | 1.97E-05 | |
35687 | 81 | K/R | 168 | rs764684882 | 0.4051 | None | gnomAD-4.0.0 | 1.98331E-05 | |
35688 | 82 | C/S | 169 | rs878952929 | 0.1789 | None | gnomAD-2.1.1 | 4.03E-06 | |
35688 | 82 | C/S | 169 | rs878952929 | 0.1789 | None | gnomAD-4.0.0 | 1.59203E-06 | |
35689 | 83 | Q/R | 171 | rs1451601178 | 0.3227 | None | gnomAD-2.1.1 | 4.03E-06 | |
35689 | 83 | Q/R | 171 | rs1451601178 | 0.3227 | None | gnomAD-4.0.0 | 1.36872E-05 | |
35690 | 84 | Y/C | 172 | rs759928440 | 0.1438 | None | gnomAD-2.1.1 | 4.03E-06 | |
35690 | 84 | Y/C | 172 | rs759928440 | 0.1438 | None | gnomAD-4.0.0 | 1.59206E-06 | |
35690 | 84 | Y/H | 172 | rs879023680 | 0.1438 | None | gnomAD-3.1.2 | 6.57E-06 | |
35690 | 84 | Y/H | 172 | rs879023680 | 0.1438 | None | gnomAD-4.0.0 | 6.57056E-06 | |
35690 | 84 | Y/N | 172 | None | 0.1438 | None | gnomAD-4.0.0 | 1.59207E-06 | |
35693 | 87 | T/K | 175 | None | 0.3833 | None | gnomAD-4.0.0 | 3.18511E-06 | |
35693 | 87 | T/P | 175 | None | 0.3833 | None | gnomAD-4.0.0 | 1.59245E-06 | |
35694 | 88 | L/P | 176 | rs761325938 | 0.6253 | None | gnomAD-2.1.1 | 8.08E-06 | |
35694 | 88 | L/P | 176 | rs761325938 | 0.6253 | None | gnomAD-4.0.0 | 6.36961E-06 | |
35694 | 88 | L/V | 176 | rs769369764 | 0.6253 | None | gnomAD-2.1.1 | 7.89E-05 | |
35694 | 88 | L/V | 176 | rs769369764 | 0.6253 | None | gnomAD-3.1.2 | 5.26E-05 | |
35694 | 88 | L/V | 176 | rs769369764 | 0.6253 | None | gnomAD-4.0.0 | 4.40085E-05 |