10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
V | P | S | E | P | K | N | A | R | V | T | K | V | N | K | D | C | I | F | V | A | W | D | R | P | D | S | D | G | G | S | P | I | I | G | Y | L | I | E | R | K | E | R | N | S | L | L | W | V | K | A | N | D | T | L | V | R | S | T | E | Y | P | C | A | G | L | V | E | G | L | E | Y | S | F | R | I | Y | A | L | N | K | A | G | S | S | P | P | S | K | P | T | E | Y | V | T | A | R | M |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
21660 | 2 | P/H | 2 | rs1037246417 | 0.1030 | None | gnomAD-2.1.1 | 4.04E-06 | |
21660 | 2 | P/H | 2 | rs1037246417 | 0.1030 | None | gnomAD-4.0.0 | 4.79629E-06 | |
21660 | 2 | P/T | 2 | rs2048516567 | 0.1030 | None | gnomAD-3.1.2 | 6.58E-06 | |
21660 | 2 | P/T | 2 | rs2048516567 | 0.1030 | None | gnomAD-4.0.0 | 6.57964E-06 | |
21662 | 4 | E/D | 4 | rs1368089730 | 0.4462 | None | gnomAD-2.1.1 | 8.07E-06 | |
21662 | 4 | E/D | 4 | rs1368089730 | 0.4462 | None | gnomAD-4.0.0 | 3.19107E-06 | |
21662 | 4 | E/G | 4 | None | 0.4462 | None | gnomAD-4.0.0 | 1.59544E-06 | |
21662 | 4 | E/K | 4 | rs2048514000 | 0.4462 | None | gnomAD-4.0.0 | 3.42543E-06 | |
21663 | 5 | P/S | 5 | rs779613133 | 0.1203 | None | gnomAD-2.1.1 | 1.21E-05 | |
21663 | 5 | P/S | 5 | rs779613133 | 0.1203 | None | gnomAD-3.1.2 | 2.63E-05 | |
21663 | 5 | P/S | 5 | rs779613133 | 0.1203 | None | gnomAD-4.0.0 | 1.61294E-05 | |
21664 | 6 | K/R | 6 | rs376637538 | 0.4341 | None | gnomAD-3.1.2 | 6.57E-06 | |
21664 | 6 | K/R | 6 | rs376637538 | 0.4341 | None | gnomAD-4.0.0 | 6.57436E-06 | |
21666 | 8 | A/T | 9 | rs2048511320 | 0.2281 | None | gnomAD-3.1.2 | 6.58E-06 | |
21666 | 8 | A/T | 9 | rs2048511320 | 0.2281 | None | gnomAD-4.0.0 | 6.57626E-06 | |
21666 | 8 | A/V | 9 | rs1396380194 | 0.2281 | None | gnomAD-2.1.1 | 4.03E-06 | |
21666 | 8 | A/V | 9 | rs1396380194 | 0.2281 | None | gnomAD-3.1.2 | 6.58E-06 | |
21666 | 8 | A/V | 9 | rs1396380194 | 0.2281 | None | gnomAD-4.0.0 | 4.34155E-06 | |
21667 | 9 | R/Q | 11 | rs758072872 | 0.3296 | None | gnomAD-3.1.2 | 1.97E-05 | |
21667 | 9 | R/Q | 11 | rs758072872 | 0.3296 | None | gnomAD-4.0.0 | 8.68252E-06 | |
21668 | 10 | V/L | 12 | None | 0.2827 | None | gnomAD-4.0.0 | 1.59437E-06 | |
21670 | 12 | K/R | 14 | rs1380994472 | 0.4577 | None | gnomAD-2.1.1 | 3.19E-05 | |
21670 | 12 | K/R | 14 | rs1380994472 | 0.4577 | None | gnomAD-3.1.2 | 1.32E-05 | |
21670 | 12 | K/R | 14 | rs1380994472 | 0.4577 | None | gnomAD-4.0.0 | 3.84819E-06 | |
21671 | 13 | V/I | 15 | rs764854284 | 0.2416 | None | gnomAD-2.1.1 | 1.21E-05 | |
21671 | 13 | V/I | 15 | rs764854284 | 0.2416 | None | gnomAD-4.0.0 | 1.27495E-05 | |
21672 | 14 | N/K | 16 | rs1452681242 | 0.3296 | None | gnomAD-2.1.1 | 4.03E-06 | |
21672 | 14 | N/K | 16 | rs1452681242 | 0.3296 | None | gnomAD-4.0.0 | 2.73835E-06 | |
21672 | 14 | N/S | 16 | None | 0.3296 | None | gnomAD-4.0.0 | 2.40064E-06 | |
21672 | 14 | N/Y | 16 | None | 0.3296 | None | gnomAD-4.0.0 | 1.5935E-06 | |
21673 | 15 | K/E | 17 | rs757115467 | 0.5030 | None | gnomAD-2.1.1 | 8.06E-06 | |
21673 | 15 | K/E | 17 | rs757115467 | 0.5030 | None | gnomAD-3.1.2 | 1.32E-05 | |
21673 | 15 | K/E | 17 | rs757115467 | 0.5030 | None | gnomAD-4.0.0 | 6.2E-06 | |
21673 | 15 | K/M | 17 | None | 0.5030 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21674 | 16 | D/Y | 18 | None | 0.4769 | None | gnomAD-4.0.0 | 2.73811E-06 | |
21675 | 17 | C/S | 19 | None | 0.1115 | None | gnomAD-4.0.0 | 1.59268E-06 | |
21676 | 18 | I/T | 20 | rs753882887 | 0.0689 | None | gnomAD-2.1.1 | 1.21E-05 | |
21676 | 18 | I/T | 20 | rs753882887 | 0.0689 | None | gnomAD-3.1.2 | 6.58E-06 | |
21676 | 18 | I/T | 20 | rs753882887 | 0.0689 | None | gnomAD-4.0.0 | 4.33943E-06 | |
21677 | 19 | F/S | 21 | rs760489340 | 0.3044 | None | gnomAD-2.1.1 | 4.03E-06 | |
21677 | 19 | F/S | 21 | rs760489340 | 0.3044 | None | gnomAD-4.0.0 | 3.18524E-06 | |
21678 | 20 | V/I | 22 | rs570562262 | 0.1065 | None | gnomAD-2.1.1 | 1.21E-05 | |
21678 | 20 | V/I | 22 | rs570562262 | 0.1065 | None | gnomAD-3.1.2 | 6.58E-06 | |
21678 | 20 | V/I | 22 | rs570562262 | 0.1065 | None | 1000 genomes | 1.99681E-04 | |
21678 | 20 | V/I | 22 | rs570562262 | 0.1065 | None | gnomAD-4.0.0 | 8.67933E-06 | |
21679 | 21 | A/G | 23 | None | 0.1190 | None | gnomAD-4.0.0 | 1.59257E-06 | |
21679 | 21 | A/T | 23 | None | 0.1190 | None | gnomAD-4.0.0 | 1.59257E-06 | |
21681 | 23 | D/V | 25 | rs192371243 | 0.3348 | None | gnomAD-2.1.1 | 8.06E-06 | |
21681 | 23 | D/V | 25 | rs192371243 | 0.3348 | None | gnomAD-3.1.2 | 6.58E-06 | |
21681 | 23 | D/V | 25 | rs192371243 | 0.3348 | None | 1000 genomes | 1.99681E-04 | |
21681 | 23 | D/V | 25 | rs192371243 | 0.3348 | None | gnomAD-4.0.0 | 2.47946E-06 | |
21681 | 23 | D/Y | 25 | None | 0.3348 | None | gnomAD-4.0.0 | 1.5925E-06 | |
21682 | 24 | R/K | 26 | None | 0.7596 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21682 | 24 | R/T | 26 | rs1553632377 | 0.7596 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21683 | 25 | P/L | 27 | rs1328998714 | 0.1741 | None | gnomAD-3.1.2 | 6.58E-06 | |
21683 | 25 | P/L | 27 | rs1328998714 | 0.1741 | None | gnomAD-4.0.0 | 1.2399E-06 | |
21683 | 25 | P/Q | 27 | rs1328998714 | 0.1741 | None | gnomAD-4.0.0 | 2.05332E-06 | |
21683 | 25 | P/T | 27 | rs528707403 | 0.1741 | None | gnomAD-2.1.1 | 2.42E-05 | |
21683 | 25 | P/T | 27 | rs528707403 | 0.1741 | None | gnomAD-3.1.2 | 3.95E-05 | |
21683 | 25 | P/T | 27 | rs528707403 | 0.1741 | None | 1000 genomes | 1.99681E-04 | |
21683 | 25 | P/T | 27 | rs528707403 | 0.1741 | None | gnomAD-4.0.0 | 1.35759E-04 | |
21684 | 26 | D/A | 28 | rs1305056270 | 0.8543 | None | gnomAD-2.1.1 | 4.03E-06 | |
21684 | 26 | D/A | 28 | rs1305056270 | 0.8543 | None | gnomAD-4.0.0 | 1.59246E-06 | |
21684 | 26 | D/E | 28 | None | 0.8543 | None | gnomAD-4.0.0 | 1.59247E-06 | |
21684 | 26 | D/G | 28 | rs1305056270 | 0.8543 | None | gnomAD-2.1.1 | 4.03E-06 | |
21684 | 26 | D/G | 28 | rs1305056270 | 0.8543 | None | gnomAD-4.0.0 | 1.27397E-05 | |
21684 | 26 | D/V | 28 | None | 0.8543 | None | gnomAD-4.0.0 | 1.59246E-06 | |
21684 | 26 | D/Y | 28 | None | 0.8543 | None | gnomAD-4.0.0 | 1.59249E-06 | |
21685 | 27 | S/G | 29 | rs1335760990 | 0.3870 | None | gnomAD-2.1.1 | 4.03E-06 | |
21685 | 27 | S/G | 29 | rs1335760990 | 0.3870 | None | gnomAD-4.0.0 | 3.18492E-06 | |
21687 | 29 | G/V | 31 | rs771108822 | 0.4032 | None | gnomAD-2.1.1 | 4.03E-06 | |
21687 | 29 | G/V | 31 | rs771108822 | 0.4032 | None | gnomAD-3.1.2 | 6.58E-06 | |
21687 | 29 | G/V | 31 | rs771108822 | 0.4032 | None | gnomAD-4.0.0 | 2.56396E-06 | |
21688 | 30 | G/R | 32 | rs372661193 | 0.6161 | None | gnomAD-2.1.1 | 1.61E-05 | |
21688 | 30 | G/R | 32 | rs372661193 | 0.6161 | None | gnomAD-3.1.2 | 1.32E-05 | |
21688 | 30 | G/R | 32 | rs372661193 | 0.6161 | None | gnomAD-4.0.0 | 4.10652E-06 | |
21690 | 32 | P/A | 34 | None | 0.6756 | None | gnomAD-4.0.0 | 6.8442E-07 | |
21690 | 32 | P/L | 34 | rs2048495568 | 0.6756 | None | gnomAD-4.0.0 | 3.18485E-06 | |
21690 | 32 | P/S | 34 | rs2048495969 | 0.6756 | None | gnomAD-4.0.0 | 5.47536E-06 | |
21691 | 33 | I/N | 35 | None | 0.2196 | None | gnomAD-2.1.1 | 4.03E-06 | |
21691 | 33 | I/N | 35 | None | 0.2196 | None | gnomAD-3.1.2 | 1.32E-05 | |
21691 | 33 | I/N | 35 | None | 0.2196 | None | gnomAD-4.0.0 | 5.5791E-06 | |
21692 | 34 | I/V | 36 | rs758476009 | 0.3577 | None | gnomAD-2.1.1 | 1.03674E-04 | |
21692 | 34 | I/V | 36 | rs758476009 | 0.3577 | None | gnomAD-3.1.2 | 5.26E-05 | |
21692 | 34 | I/V | 36 | rs758476009 | 0.3577 | None | gnomAD-4.0.0 | 1.06004E-04 | |
21693 | 35 | G/D | 37 | None | 0.0962 | None | gnomAD-4.0.0 | 1.59242E-06 | |
21694 | 36 | Y/H | 38 | rs369058733 | 0.1132 | None | gnomAD-2.1.1 | 1.61E-05 | |
21694 | 36 | Y/H | 38 | rs369058733 | 0.1132 | None | gnomAD-3.1.2 | 2.63E-05 | |
21694 | 36 | Y/H | 38 | rs369058733 | 0.1132 | None | gnomAD-4.0.0 | 5.57923E-06 | |
21695 | 37 | L/R | 39 | rs1174402887 | 0.2666 | None | gnomAD-2.1.1 | 4.03E-06 | |
21695 | 37 | L/R | 39 | rs1174402887 | 0.2666 | None | gnomAD-4.0.0 | 1.59233E-06 | |
21697 | 39 | E/G | 41 | rs1469687198 | 0.1279 | None | gnomAD-4.0.0 | 1.59232E-06 | |
21697 | 39 | E/K | 41 | None | 0.1279 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21698 | 40 | R/C | 42 | rs72646861 | 0.3154 | None | gnomAD-2.1.1 | 7.59038E-03 | |
21698 | 40 | R/C | 42 | rs72646861 | 0.3154 | None | gnomAD-3.1.2 | 3.48657E-03 | |
21698 | 40 | R/C | 42 | rs72646861 | 0.3154 | None | 1000 genomes | 1.29792E-02 | |
21698 | 40 | R/C | 42 | rs72646861 | 0.3154 | None | gnomAD-4.0.0 | 4.37747E-03 | |
21698 | 40 | R/H | 42 | rs371581072 | 0.3154 | None | gnomAD-2.1.1 | 8.05E-06 | |
21698 | 40 | R/H | 42 | rs371581072 | 0.3154 | None | gnomAD-4.0.0 | 2.25854E-05 | |
21698 | 40 | R/L | 42 | rs371581072 | 0.3154 | None | gnomAD-2.1.1 | 3.93E-05 | |
21698 | 40 | R/L | 42 | rs371581072 | 0.3154 | None | gnomAD-3.1.2 | 5.92E-05 | |
21698 | 40 | R/L | 42 | rs371581072 | 0.3154 | None | gnomAD-4.0.0 | 1.15303E-04 | |
21700 | 42 | E/G | 44 | rs2048488125 | 0.1329 | None | gnomAD-3.1.2 | 6.58E-06 | |
21700 | 42 | E/G | 44 | rs2048488125 | 0.1329 | None | gnomAD-4.0.0 | 6.57678E-06 | |
21701 | 43 | R/I | 50 | rs756852802 | 0.2484 | None | gnomAD-2.1.1 | 4.03E-06 | |
21701 | 43 | R/I | 50 | rs756852802 | 0.2484 | None | gnomAD-4.0.0 | 6.84401E-07 | |
21701 | 43 | R/T | 50 | rs756852802 | 0.2484 | None | gnomAD-2.1.1 | 4.03E-06 | |
21701 | 43 | R/T | 50 | rs756852802 | 0.2484 | None | gnomAD-4.0.0 | 1.3688E-06 | |
21702 | 44 | N/K | 54 | rs753302897 | 0.6955 | None | gnomAD-2.1.1 | 4.03E-06 | |
21702 | 44 | N/K | 54 | rs753302897 | 0.6955 | None | gnomAD-4.0.0 | 1.5923E-06 | |
21703 | 45 | S/G | 60 | rs938258873 | 0.2208 | None | gnomAD-2.1.1 | 6.38E-05 | |
21703 | 45 | S/G | 60 | rs938258873 | 0.2208 | None | gnomAD-3.1.2 | 1.32E-05 | |
21703 | 45 | S/G | 60 | rs938258873 | 0.2208 | None | gnomAD-4.0.0 | 1.31517E-05 | |
21703 | 45 | S/N | 60 | None | 0.2208 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21704 | 46 | L/F | 63 | None | 1.0627 | None | gnomAD-4.0.0 | 3.42198E-06 | |
21705 | 47 | L/Q | 64 | rs2154179812 | 0.8735 | None | gnomAD-4.0.0 | 1.50565E-05 | |
21709 | 51 | A/P | 68 | rs549711049 | 0.2095 | None | gnomAD-2.1.1 | 5.24E-05 | |
21709 | 51 | A/P | 68 | rs549711049 | 0.2095 | None | gnomAD-3.1.2 | 1.97E-05 | |
21709 | 51 | A/P | 68 | rs549711049 | 0.2095 | None | 1000 genomes | 1.99681E-04 | |
21709 | 51 | A/P | 68 | rs549711049 | 0.2095 | None | gnomAD-4.0.0 | 2.23145E-05 | |
21710 | 52 | N/K | 69 | None | 0.1291 | None | gnomAD-4.0.0 | 1.16347E-05 | |
21710 | 52 | N/S | 69 | rs756152181 | 0.1291 | None | gnomAD-2.1.1 | 4.03E-06 | |
21710 | 52 | N/S | 69 | rs756152181 | 0.1291 | None | gnomAD-4.0.0 | 3.1845E-06 | |
21711 | 53 | D/A | 70 | None | 1.0247 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21712 | 54 | T/A | 72 | rs1278321308 | 0.8090 | None | gnomAD-2.1.1 | 4.03E-06 | |
21712 | 54 | T/A | 72 | rs1278321308 | 0.8090 | None | gnomAD-4.0.0 | 1.59226E-06 | |
21712 | 54 | T/N | 72 | rs767459998 | 0.8090 | None | gnomAD-2.1.1 | 4.03E-06 | |
21712 | 54 | T/N | 72 | rs767459998 | 0.8090 | None | gnomAD-4.0.0 | 1.59227E-06 | |
21713 | 55 | L/F | 75 | rs759672249 | 0.5095 | None | gnomAD-2.1.1 | 8.06E-06 | |
21713 | 55 | L/F | 75 | rs759672249 | 0.5095 | None | gnomAD-4.0.0 | 1.59227E-06 | |
21714 | 56 | V/G | 77 | rs751864769 | 0.1220 | None | gnomAD-2.1.1 | 8.06E-06 | |
21714 | 56 | V/G | 77 | rs751864769 | 0.1220 | None | gnomAD-4.0.0 | 1.59221E-06 | |
21715 | 57 | R/L | 83 | rs368450785 | 0.8723 | None | gnomAD-2.1.1 | 6.8E-05 | |
21715 | 57 | R/L | 83 | rs368450785 | 0.8723 | None | gnomAD-3.1.2 | 5.26E-05 | |
21715 | 57 | R/L | 83 | rs368450785 | 0.8723 | None | gnomAD-4.0.0 | 8.05896E-05 | |
21715 | 57 | R/Q | 83 | rs368450785 | 0.8723 | None | gnomAD-2.1.1 | 4.83E-05 | |
21715 | 57 | R/Q | 83 | rs368450785 | 0.8723 | None | gnomAD-3.1.2 | 3.29E-05 | |
21715 | 57 | R/Q | 83 | rs368450785 | 0.8723 | None | gnomAD-4.0.0 | 4.02948E-05 | |
21715 | 57 | R/W | 83 | rs766522121 | 0.8723 | None | gnomAD-2.1.1 | 2.15E-05 | |
21715 | 57 | R/W | 83 | rs766522121 | 0.8723 | None | gnomAD-3.1.2 | 5.26E-05 | |
21715 | 57 | R/W | 83 | rs766522121 | 0.8723 | None | gnomAD-4.0.0 | 2.47961E-05 | |
21716 | 58 | S/L | 88 | rs13021201 | 0.3024 | None | gnomAD-2.1.1 | 2.45023E-02 | |
21716 | 58 | S/L | 88 | rs13021201 | 0.3024 | None | gnomAD-3.1.2 | 2.32567E-02 | |
21716 | 58 | S/L | 88 | rs13021201 | 0.3024 | None | 1000 genomes | 1.07827E-02 | |
21716 | 58 | S/L | 88 | rs13021201 | 0.3024 | None | gnomAD-4.0.0 | 3.66102E-02 | |
21719 | 61 | Y/C | 91 | rs762352911 | 0.1901 | None | gnomAD-2.1.1 | 4.03E-06 | |
21719 | 61 | Y/C | 91 | rs762352911 | 0.1901 | None | gnomAD-4.0.0 | 6.36898E-06 | |
21720 | 62 | P/T | 92 | rs776953525 | 0.2808 | None | gnomAD-2.1.1 | 2.42E-05 | |
21720 | 62 | P/T | 92 | rs776953525 | 0.2808 | None | gnomAD-3.1.2 | 1.97E-05 | |
21720 | 62 | P/T | 92 | rs776953525 | 0.2808 | None | gnomAD-4.0.0 | 1.15367E-05 | |
21721 | 63 | C/G | 93 | rs745497694 | 0.0937 | None | gnomAD-2.1.1 | 4.03E-06 | |
21721 | 63 | C/G | 93 | rs745497694 | 0.0937 | None | gnomAD-4.0.0 | 6.84395E-07 | |
21721 | 63 | C/R | 93 | rs745497694 | 0.0937 | None | gnomAD-2.1.1 | 4.65E-05 | |
21721 | 63 | C/R | 93 | rs745497694 | 0.0937 | None | gnomAD-3.1.2 | 3.95E-05 | |
21721 | 63 | C/R | 93 | rs745497694 | 0.0937 | None | gnomAD-4.0.0 | 9.2981E-06 | |
21721 | 63 | C/Y | 93 | rs778573828 | 0.0937 | None | gnomAD-2.1.1 | 4.03E-06 | |
21721 | 63 | C/Y | 93 | rs778573828 | 0.0937 | None | gnomAD-4.0.0 | 1.5923E-06 | |
21723 | 65 | G/D | 96 | rs371802736 | 0.5005 | None | gnomAD-2.1.1 | 4.03E-06 | |
21723 | 65 | G/D | 96 | rs371802736 | 0.5005 | None | gnomAD-3.1.2 | 1.32E-05 | |
21723 | 65 | G/D | 96 | rs371802736 | 0.5005 | None | gnomAD-4.0.0 | 6.19899E-06 | |
21725 | 67 | V/A | 98 | rs543828787 | 0.5129 | None | gnomAD-2.1.1 | 1.20937E-04 | |
21725 | 67 | V/A | 98 | rs543828787 | 0.5129 | None | gnomAD-3.1.2 | 2.63E-05 | |
21725 | 67 | V/A | 98 | rs543828787 | 0.5129 | None | 1000 genomes | 1.99681E-04 | |
21725 | 67 | V/A | 98 | rs543828787 | 0.5129 | None | gnomAD-4.0.0 | 6.07453E-05 | |
21725 | 67 | V/I | 98 | rs368716894 | 0.5129 | None | gnomAD-2.1.1 | 2.86E-05 | |
21725 | 67 | V/I | 98 | rs368716894 | 0.5129 | None | gnomAD-3.1.2 | 3.95E-05 | |
21725 | 67 | V/I | 98 | rs368716894 | 0.5129 | None | gnomAD-4.0.0 | 7.19086E-05 | |
21725 | 67 | V/L | 98 | rs368716894 | 0.5129 | None | gnomAD-4.0.0 | 3.4221E-06 | |
21727 | 69 | G/D | 100 | rs752748458 | 0.3606 | None | gnomAD-2.1.1 | 4.03E-06 | |
21727 | 69 | G/D | 100 | rs752748458 | 0.3606 | None | gnomAD-3.1.2 | 6.58E-06 | |
21727 | 69 | G/D | 100 | rs752748458 | 0.3606 | None | gnomAD-4.0.0 | 6.57592E-06 | |
21727 | 69 | G/S | 100 | rs756099303 | 0.3606 | None | gnomAD-2.1.1 | 2.42E-05 | |
21727 | 69 | G/S | 100 | rs756099303 | 0.3606 | None | gnomAD-3.1.2 | 1.32E-05 | |
21727 | 69 | G/S | 100 | rs756099303 | 0.3606 | None | gnomAD-4.0.0 | 1.48781E-05 | |
21727 | 69 | G/V | 100 | rs752748458 | 0.3606 | None | gnomAD-2.1.1 | 8.06E-06 | |
21727 | 69 | G/V | 100 | rs752748458 | 0.3606 | None | gnomAD-4.0.0 | 2.73772E-06 | |
21728 | 70 | L/V | 102 | rs781121273 | 0.3593 | None | gnomAD-2.1.1 | 1.79E-05 | |
21728 | 70 | L/V | 102 | rs781121273 | 0.3593 | None | gnomAD-3.1.2 | 1.32E-05 | |
21728 | 70 | L/V | 102 | rs781121273 | 0.3593 | None | gnomAD-4.0.0 | 1.79779E-05 | |
21729 | 71 | E/G | 103 | rs1317452229 | 0.2127 | None | gnomAD-3.1.2 | 6.58E-06 | |
21729 | 71 | E/G | 103 | rs1317452229 | 0.2127 | None | gnomAD-4.0.0 | 6.57531E-06 | |
21729 | 71 | E/K | 103 | rs375439506 | 0.2127 | None | gnomAD-2.1.1 | 4.03E-06 | |
21729 | 71 | E/K | 103 | rs375439506 | 0.2127 | None | gnomAD-3.1.2 | 1.32E-05 | |
21729 | 71 | E/K | 103 | rs375439506 | 0.2127 | None | gnomAD-4.0.0 | 4.33928E-06 | |
21729 | 71 | E/Q | 103 | rs375439506 | 0.2127 | None | gnomAD-3.1.2 | 6.58E-06 | |
21729 | 71 | E/Q | 103 | rs375439506 | 0.2127 | None | gnomAD-4.0.0 | 2.47959E-06 | |
21732 | 74 | F/C | 106 | None | 0.1173 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21732 | 74 | F/L | 106 | rs397517661 | 0.1173 | None | gnomAD-2.1.1 | 2.62376E-04 | |
21732 | 74 | F/L | 106 | rs397517661 | 0.1173 | None | gnomAD-3.1.2 | 3.29E-05 | |
21732 | 74 | F/L | 106 | rs397517661 | 0.1173 | None | gnomAD-4.0.0 | 1.06018E-04 | |
21733 | 75 | R/G | 107 | None | 0.1257 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21733 | 75 | R/I | 107 | None | 0.1257 | None | gnomAD-4.0.0 | 2.73851E-06 | |
21734 | 76 | I/M | 108 | rs765344234 | 0.0625 | None | gnomAD-2.1.1 | 4.04E-06 | |
21734 | 76 | I/M | 108 | rs765344234 | 0.0625 | None | gnomAD-3.1.2 | 6.58E-06 | |
21734 | 76 | I/M | 108 | rs765344234 | 0.0625 | None | gnomAD-4.0.0 | 2.4807E-06 | |
21735 | 77 | Y/C | 109 | rs1430331721 | 0.1438 | None | gnomAD-2.1.1 | 4.04E-06 | |
21736 | 78 | A/S | 110 | rs1320436212 | 0.0753 | None | gnomAD-2.1.1 | 4.04E-06 | |
21736 | 78 | A/S | 110 | rs1320436212 | 0.0753 | None | gnomAD-4.0.0 | 1.59544E-06 | |
21737 | 79 | L/V | 111 | rs2048461875 | 0.2059 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21739 | 81 | K/N | 113 | rs1457832691 | 0.9165 | None | gnomAD-2.1.1 | 4.06E-06 | |
21739 | 81 | K/N | 113 | rs1457832691 | 0.9165 | None | gnomAD-4.0.0 | 1.60857E-06 | |
21740 | 82 | A/G | 114 | rs2048460076 | 0.5431 | None | gnomAD-3.1.2 | 6.58E-06 | |
21740 | 82 | A/G | 114 | rs2048460076 | 0.5431 | None | gnomAD-4.0.0 | 6.57756E-06 | |
21740 | 82 | A/T | 114 | rs2048460520 | 0.5431 | None | gnomAD-3.1.2 | 6.58E-06 | |
21740 | 82 | A/T | 114 | rs2048460520 | 0.5431 | None | gnomAD-4.0.0 | 6.46404E-06 | |
21741 | 83 | G/E | 115 | None | 0.2194 | None | gnomAD-4.0.0 | 6.8842E-07 | |
21741 | 83 | G/R | 115 | None | 0.2194 | None | gnomAD-4.0.0 | 6.88514E-07 | |
21741 | 83 | G/V | 115 | rs1389298806 | 0.2194 | None | gnomAD-2.1.1 | 4.07E-06 | |
21741 | 83 | G/V | 115 | rs1389298806 | 0.2194 | None | gnomAD-4.0.0 | 6.8842E-07 | |
21743 | 85 | S/T | 118 | None | 0.0918 | None | gnomAD-4.0.0 | 6.89624E-07 | |
21745 | 87 | P/L | 120 | rs2048457148 | 0.2504 | None | gnomAD-3.1.2 | 6.58E-06 | |
21745 | 87 | P/L | 120 | rs2048457148 | 0.2504 | None | gnomAD-4.0.0 | 3.04538E-06 | |
21745 | 87 | P/T | 120 | rs777182534 | 0.2504 | None | gnomAD-2.1.1 | 8.23E-06 | |
21745 | 87 | P/T | 120 | rs777182534 | 0.2504 | None | gnomAD-3.1.2 | 1.32E-05 | |
21745 | 87 | P/T | 120 | rs777182534 | 0.2504 | None | gnomAD-4.0.0 | 1.81222E-05 | |
21746 | 88 | S/R | 121 | None | 0.1239 | None | gnomAD-4.0.0 | 8.16716E-06 | |
21748 | 90 | P/H | 123 | None | 0.4210 | None | gnomAD-4.0.0 | 1.63916E-06 | |
21748 | 90 | P/L | 123 | rs1419714561 | 0.4210 | None | gnomAD-2.1.1 | 4.18E-06 | |
21748 | 90 | P/L | 123 | rs1419714561 | 0.4210 | None | gnomAD-4.0.0 | 6.55662E-06 | |
21748 | 90 | P/S | 123 | rs202009606 | 0.4210 | None | gnomAD-3.1.2 | 6.58E-06 | |
21748 | 90 | P/S | 123 | rs202009606 | 0.4210 | None | gnomAD-4.0.0 | 1.87987E-06 | |
21749 | 91 | T/I | 124 | rs557155501 | 0.1562 | None | gnomAD-3.1.2 | 6.58E-06 | |
21749 | 91 | T/I | 124 | rs557155501 | 0.1562 | None | gnomAD-4.0.0 | 3.14023E-06 | |
21750 | 92 | E/A | 125 | rs761034547 | 0.8082 | None | gnomAD-2.1.1 | 4.24E-06 | |
21750 | 92 | E/A | 125 | rs761034547 | 0.8082 | None | gnomAD-4.0.0 | 1.64996E-06 | |
21750 | 92 | E/K | 125 | None | 0.8082 | None | gnomAD-4.0.0 | 6.59988E-06 | |
21751 | 93 | Y/F | 126 | rs770569025 | 0.3024 | None | gnomAD-2.1.1 | 1.72E-05 | |
21751 | 93 | Y/F | 126 | rs770569025 | 0.3024 | None | gnomAD-4.0.0 | 3.97688E-05 | |
21751 | 93 | Y/H | 126 | rs775750677 | 0.3024 | None | gnomAD-2.1.1 | 1.28E-05 | |
21751 | 93 | Y/H | 126 | rs775750677 | 0.3024 | None | gnomAD-4.0.0 | 8.2971E-06 | |
21752 | 94 | V/L | 127 | None | 0.2309 | None | gnomAD-4.0.0 | 1.04784E-05 | |
21753 | 95 | T/I | 129 | rs748999109 | 0.2558 | None | gnomAD-2.1.1 | 9.01E-06 | |
21753 | 95 | T/I | 129 | rs748999109 | 0.2558 | None | gnomAD-3.1.2 | 6.58E-06 | |
21753 | 95 | T/I | 129 | rs748999109 | 0.2558 | None | gnomAD-4.0.0 | 4.07279E-06 | |
21754 | 96 | A/P | 130 | rs1463700856 | 0.0670 | None | gnomAD-3.1.2 | 6.58E-06 | |
21754 | 96 | A/P | 130 | rs1463700856 | 0.0670 | None | gnomAD-4.0.0 | 2.74205E-06 | |
21754 | 96 | A/S | 130 | None | 0.0670 | None | gnomAD-4.0.0 | 1.73204E-06 | |
21756 | 98 | M/I | 132 | None | 0.6516 | None | gnomAD-4.0.0 | 7.13598E-07 |