10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
I | P | S | P | P | G | I | P | E | E | V | G | T | G | K | E | H | I | I | I | Q | W | T | K | P | E | S | D | G | G | N | E | I | S | N | Y | L | V | D | K | R | E | K | K | S | L | R | W | T | R | V | N | K | D | Y | V | V | Y | D | T | R | L | K | V | T | S | L | M | E | G | C | D | Y | Q | F | R | V | T | A | V | N | A | A | G | N | S | E | P | S | E | A | S | N | F | I | S | C | R | E | P |
I | P | S | P | P | G | I | P | E | E | V | G | T | G | K | E | H | I | I | I | Q | W | T | K | P | E | S | D | G | G | N | E | I | S | N | Y | L | V | D | K | R | E | K | K | S | L | R | W | T | R | V | N | K | D | Y | V | V | Y | D | T | R | L | K | V | T | S | L | M | E | G | C | D | Y | Q | F | R | V | T | A | V | N | A | A | G | N | S | E | P | S | E | A | S | N | F | I | S | C | R | E | - |
The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
31808 | 2 | P/Q | 2 | None | 0.1123 | None | gnomAD-4.0.0 | 1.20033E-06 | |
31809 | 3 | S/P | 3 | None | 0.1906 | None | gnomAD-4.0.0 | 3.42417E-06 | |
31810 | 4 | P/T | 4 | None | 0.3487 | None | gnomAD-4.0.0 | 1.59393E-06 | |
31811 | 5 | P/A | 5 | rs373291051 | 0.1368 | None | gnomAD-2.1.1 | 7.15E-06 | |
31811 | 5 | P/A | 5 | rs373291051 | 0.1368 | None | gnomAD-4.0.0 | 2.73856E-06 | |
31811 | 5 | P/S | 5 | rs373291051 | 0.1368 | None | gnomAD-3.1.2 | 6.57E-06 | |
31811 | 5 | P/S | 5 | rs373291051 | 0.1368 | None | gnomAD-4.0.0 | 1.86013E-06 | |
31812 | 6 | G/S | 6 | rs754416007 | 0.2211 | None | gnomAD-2.1.1 | 1.61E-05 | |
31812 | 6 | G/S | 6 | rs754416007 | 0.2211 | None | gnomAD-4.0.0 | 1.64306E-05 | |
31814 | 8 | P/A | 9 | rs370079368 | 0.1424 | None | gnomAD-2.1.1 | 4.02E-06 | |
31814 | 8 | P/R | 9 | None | 0.1424 | None | gnomAD-4.0.0 | 1.59243E-06 | |
31815 | 9 | E/K | 11 | rs779953291 | 0.7533 | None | gnomAD-2.1.1 | 4.02E-06 | |
31815 | 9 | E/K | 11 | rs779953291 | 0.7533 | None | gnomAD-4.0.0 | 2.05303E-06 | |
31816 | 10 | E/K | 12 | None | 0.3790 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31816 | 10 | E/V | 12 | rs1226499081 | 0.3790 | None | gnomAD-2.1.1 | 4.02E-06 | |
31816 | 10 | E/V | 12 | rs1226499081 | 0.3790 | None | gnomAD-4.0.0 | 1.59188E-06 | |
31817 | 11 | V/A | 13 | rs758207460 | 0.4296 | None | gnomAD-2.1.1 | 8.44E-05 | |
31817 | 11 | V/A | 13 | rs758207460 | 0.4296 | None | gnomAD-3.1.2 | 1.7748E-04 | |
31817 | 11 | V/A | 13 | rs758207460 | 0.4296 | None | gnomAD-4.0.0 | 3.78062E-05 | |
31817 | 11 | V/L | 13 | rs1322909513 | 0.4296 | None | gnomAD-3.1.2 | 6.57E-06 | |
31817 | 11 | V/L | 13 | rs1322909513 | 0.4296 | None | gnomAD-4.0.0 | 6.57047E-06 | |
31819 | 13 | T/P | 15 | None | 0.2434 | None | gnomAD-4.0.0 | 1.59158E-06 | |
31821 | 15 | K/R | 17 | rs372388579 | 0.3490 | None | gnomAD-2.1.1 | 2.5E-05 | |
31821 | 15 | K/R | 17 | rs372388579 | 0.3490 | None | gnomAD-3.1.2 | 6.57E-05 | |
31821 | 15 | K/R | 17 | rs372388579 | 0.3490 | None | gnomAD-4.0.0 | 1.17745E-05 | |
31822 | 16 | E/A | 18 | None | 0.6731 | None | gnomAD-4.0.0 | 4.77426E-06 | |
31822 | 16 | E/D | 18 | rs1302716458 | 0.6731 | None | gnomAD-2.1.1 | 4.02E-06 | |
31822 | 16 | E/D | 18 | rs1302716458 | 0.6731 | None | gnomAD-4.0.0 | 1.59143E-06 | |
31822 | 16 | E/K | 18 | rs986919717 | 0.6731 | None | gnomAD-4.0.0 | 1.59144E-06 | |
31823 | 17 | H/R | 19 | rs794729539 | 0.2644 | None | gnomAD-2.1.1 | 8.04E-06 | |
31823 | 17 | H/R | 19 | rs794729539 | 0.2644 | None | gnomAD-3.1.2 | 1.97E-05 | |
31823 | 17 | H/R | 19 | rs794729539 | 0.2644 | None | gnomAD-4.0.0 | 2.04499E-05 | |
31825 | 19 | I/L | 21 | None | 0.2082 | None | gnomAD-4.0.0 | 1.59137E-06 | |
31825 | 19 | I/V | 21 | rs1393236297 | 0.2082 | None | gnomAD-2.1.1 | 1.21E-05 | |
31825 | 19 | I/V | 21 | rs1393236297 | 0.2082 | None | gnomAD-4.0.0 | 4.77411E-06 | |
31826 | 20 | I/F | 22 | rs1441494363 | 0.0876 | None | gnomAD-2.1.1 | 6.37E-05 | |
31826 | 20 | I/F | 22 | rs1441494363 | 0.0876 | None | gnomAD-3.1.2 | 2.63E-05 | |
31826 | 20 | I/F | 22 | rs1441494363 | 0.0876 | None | gnomAD-4.0.0 | 2.62784E-05 | |
31826 | 20 | I/V | 22 | rs1441494363 | 0.0876 | None | gnomAD-4.0.0 | 1.36846E-06 | |
31829 | 23 | T/R | 25 | rs762048345 | 0.6799 | None | gnomAD-2.1.1 | 8.03E-06 | |
31829 | 23 | T/R | 25 | rs762048345 | 0.6799 | None | gnomAD-3.1.2 | 6.57E-06 | |
31829 | 23 | T/R | 25 | rs762048345 | 0.6799 | None | gnomAD-4.0.0 | 6.40628E-06 | |
31832 | 26 | E/A | 28 | None | 1.0239 | None | gnomAD-4.0.0 | 1.36847E-06 | |
31832 | 26 | E/K | 28 | rs753982218 | 1.0239 | None | gnomAD-2.1.1 | 8.03E-06 | |
31832 | 26 | E/K | 28 | rs753982218 | 1.0239 | None | gnomAD-3.1.2 | 6.57E-06 | |
31832 | 26 | E/K | 28 | rs753982218 | 1.0239 | None | gnomAD-4.0.0 | 6.40579E-06 | |
31832 | 26 | E/V | 28 | None | 1.0239 | None | gnomAD-4.0.0 | 6.84233E-06 | |
31833 | 27 | S/T | 29 | rs764271138 | 0.3733 | None | gnomAD-2.1.1 | 1.61E-05 | |
31833 | 27 | S/T | 29 | rs764271138 | 0.3733 | None | gnomAD-3.1.2 | 6.57E-06 | |
31833 | 27 | S/T | 29 | rs764271138 | 0.3733 | None | gnomAD-4.0.0 | 5.57753E-06 | |
31834 | 28 | D/A | 30 | rs902706151 | 0.2936 | None | gnomAD-2.1.1 | 7.13E-06 | |
31834 | 28 | D/A | 30 | rs902706151 | 0.2936 | None | gnomAD-3.1.2 | 1.31E-05 | |
31834 | 28 | D/A | 30 | rs902706151 | 0.2936 | None | gnomAD-4.0.0 | 3.84336E-06 | |
31834 | 28 | D/H | 30 | None | 0.2936 | None | gnomAD-4.0.0 | 1.5914E-06 | |
31834 | 28 | D/Y | 30 | rs1696707547 | 0.2936 | None | gnomAD-4.0.0 | 1.5914E-06 | |
31835 | 29 | G/D | 31 | rs760663349 | 0.3875 | None | gnomAD-2.1.1 | 4.02E-06 | |
31835 | 29 | G/R | 31 | None | 0.3875 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31836 | 30 | G/D | 32 | None | 0.6004 | None | gnomAD-4.0.0 | 1.59139E-06 | |
31837 | 31 | N/S | 33 | None | 0.3911 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31838 | 32 | E/G | 34 | rs1196738790 | 0.7988 | None | gnomAD-2.1.1 | 4.02E-06 | |
31838 | 32 | E/G | 34 | rs1196738790 | 0.7988 | None | gnomAD-4.0.0 | 2.73693E-06 | |
31838 | 32 | E/V | 34 | None | 0.7988 | None | gnomAD-4.0.0 | 1.36847E-06 | |
31840 | 34 | S/N | 36 | rs1696700303 | 0.3331 | None | gnomAD-3.1.2 | 6.57E-06 | |
31840 | 34 | S/N | 36 | rs1696700303 | 0.3331 | None | gnomAD-4.0.0 | 6.57194E-06 | |
31841 | 35 | N/D | 37 | rs794729540 | 0.1861 | None | gnomAD-2.1.1 | 3.19E-05 | |
31841 | 35 | N/D | 37 | rs794729540 | 0.1861 | None | gnomAD-3.1.2 | 1.97E-05 | |
31841 | 35 | N/D | 37 | rs794729540 | 0.1861 | None | gnomAD-4.0.0 | 1.6732E-05 | |
31841 | 35 | N/Y | 37 | None | 0.1861 | None | gnomAD-4.0.0 | 6.84233E-07 | |
31842 | 36 | Y/D | 38 | rs1452962684 | 0.1128 | None | gnomAD-2.1.1 | 4.02E-06 | |
31842 | 36 | Y/D | 38 | rs1452962684 | 0.1128 | None | gnomAD-4.0.0 | 1.36847E-06 | |
31843 | 37 | L/P | 39 | rs1696696732 | 0.2061 | None | gnomAD-3.1.2 | 6.57E-06 | |
31843 | 37 | L/P | 39 | rs1696696732 | 0.2061 | None | gnomAD-4.0.0 | 6.57376E-06 | |
31843 | 37 | L/R | 39 | None | 0.2061 | None | gnomAD-4.0.0 | 1.5914E-06 | |
31844 | 38 | V/A | 40 | rs776197188 | 0.1047 | None | gnomAD-2.1.1 | 1.07E-05 | |
31844 | 38 | V/A | 40 | rs776197188 | 0.1047 | None | gnomAD-3.1.2 | 1.32E-05 | |
31844 | 38 | V/A | 40 | rs776197188 | 0.1047 | None | gnomAD-4.0.0 | 4.33817E-06 | |
31844 | 38 | V/I | 40 | None | 0.1047 | None | gnomAD-4.0.0 | 2.40064E-06 | |
31845 | 39 | D/N | 41 | rs772648821 | 0.1530 | None | gnomAD-2.1.1 | 4.02E-06 | |
31846 | 40 | K/R | 42 | rs759982252 | 0.1988 | None | gnomAD-2.1.1 | 1.2E-05 | |
31846 | 40 | K/R | 42 | rs759982252 | 0.1988 | None | gnomAD-3.1.2 | 2.63E-05 | |
31846 | 40 | K/R | 42 | rs759982252 | 0.1988 | None | gnomAD-4.0.0 | 8.96817E-06 | |
31847 | 41 | R/C | 43 | rs774814532 | 0.2357 | None | gnomAD-2.1.1 | 2.41E-05 | |
31847 | 41 | R/C | 43 | rs774814532 | 0.2357 | None | gnomAD-3.1.2 | 6.57E-06 | |
31847 | 41 | R/C | 43 | rs774814532 | 0.2357 | None | gnomAD-4.0.0 | 1.36341E-05 | |
31847 | 41 | R/H | 43 | rs771179752 | 0.2357 | None | gnomAD-2.1.1 | 4.02E-05 | |
31847 | 41 | R/H | 43 | rs771179752 | 0.2357 | None | gnomAD-3.1.2 | 1.31E-05 | |
31847 | 41 | R/H | 43 | rs771179752 | 0.2357 | None | gnomAD-4.0.0 | 4.46199E-05 | |
31847 | 41 | R/P | 43 | rs771179752 | 0.2357 |
MmD |
Literature | None | |
31847 | 41 | R/P | 43 | rs771179752 | 0.2357 | None | gnomAD-4.0.0 | 6.84237E-07 | |
31851 | 45 | S/N | 60 | rs746468000 | 0.2805 | None | gnomAD-2.1.1 | 4.02E-06 | |
31851 | 45 | S/N | 60 | rs746468000 | 0.2805 | None | gnomAD-3.1.2 | 6.57E-06 | |
31851 | 45 | S/N | 60 | rs746468000 | 0.2805 | None | gnomAD-4.0.0 | 1.23945E-06 | |
31852 | 46 | L/P | 63 | rs62621206 | 1.2272 | None | gnomAD-2.1.1 | 1.08384E-02 | |
31852 | 46 | L/P | 63 | rs62621206 | 1.2272 | None | gnomAD-3.1.2 | 1.12135E-02 | |
31852 | 46 | L/P | 63 | rs62621206 | 1.2272 | None | 1000 genomes | 5.59105E-03 | |
31852 | 46 | L/P | 63 | rs62621206 | 1.2272 | None | gnomAD-4.0.0 | 1.51072E-02 | |
31852 | 46 | L/Q | 63 | None | 1.2272 | None | gnomAD-2.1.1 | 4.02E-06 | |
31852 | 46 | L/Q | 63 | None | 1.2272 | None | gnomAD-4.0.0 | 1.36847E-06 | |
31852 | 46 | L/R | 63 | rs62621206 | 1.2272 | None | gnomAD-2.1.1 | 4.02E-06 | |
31853 | 47 | R/C | 64 | rs727503542 | 0.7595 | None | gnomAD-2.1.1 | 1.78E-05 | |
31853 | 47 | R/C | 64 | rs727503542 | 0.7595 | None | gnomAD-3.1.2 | 3.29E-05 | |
31853 | 47 | R/C | 64 | rs727503542 | 0.7595 | None | gnomAD-4.0.0 | 3.78017E-05 | |
31853 | 47 | R/H | 64 | rs754151944 | 0.7595 | None | gnomAD-2.1.1 | 8.2E-05 | |
31853 | 47 | R/H | 64 | rs754151944 | 0.7595 | None | gnomAD-3.1.2 | 1.05161E-04 | |
31853 | 47 | R/H | 64 | rs754151944 | 0.7595 | None | gnomAD-4.0.0 | 2.29298E-05 | |
31853 | 47 | R/S | 64 | rs727503542 | 0.7595 | None | gnomAD-4.0.0 | 6.84242E-07 | |
31854 | 48 | W/C | 65 | rs752756889 | 0.2637 | None | gnomAD-2.1.1 | 1.2E-05 | |
31854 | 48 | W/C | 65 | rs752756889 | 0.2637 | None | gnomAD-3.1.2 | 6.57E-06 | |
31854 | 48 | W/C | 65 | rs752756889 | 0.2637 | None | gnomAD-4.0.0 | 8.96879E-06 | |
31855 | 49 | T/I | 66 | rs1696674198 | 0.3851 | None | gnomAD-3.1.2 | 6.57E-06 | |
31855 | 49 | T/I | 66 | rs1696674198 | 0.3851 | None | gnomAD-4.0.0 | 2.56253E-06 | |
31856 | 50 | R/C | 67 | rs72648261 | 0.2361 | None | gnomAD-2.1.1 | 2.14E-05 | |
31856 | 50 | R/C | 67 | rs72648261 | 0.2361 | None | gnomAD-3.1.2 | 3.94E-05 | |
31856 | 50 | R/C | 67 | rs72648261 | 0.2361 | None | gnomAD-4.0.0 | 1.30146E-05 | |
31856 | 50 | R/G | 67 | rs72648261 | 0.2361 | None | gnomAD-3.1.2 | 6.57E-06 | |
31856 | 50 | R/G | 67 | rs72648261 | 0.2361 | None | gnomAD-4.0.0 | 1.23949E-06 | |
31856 | 50 | R/H | 67 | rs876658093 | 0.2361 | None | gnomAD-2.1.1 | 1.21E-05 | |
31856 | 50 | R/H | 67 | rs876658093 | 0.2361 | None | gnomAD-4.0.0 | 1.43691E-05 | |
31856 | 50 | R/L | 67 | None | 0.2361 | None | gnomAD-4.0.0 | 6.84244E-07 | |
31856 | 50 | R/P | 67 | None | 0.2361 | None | gnomAD-4.0.0 | 1.36849E-06 | |
31856 | 50 | R/S | 67 | None | 0.2361 | None | gnomAD-2.1.1 | 4.02E-06 | |
31857 | 51 | V/A | 68 | rs1696670937 | 0.1937 | None | gnomAD-3.1.2 | 6.57E-06 | |
31857 | 51 | V/A | 68 | rs1696670937 | 0.1937 | None | gnomAD-4.0.0 | 3.8438E-06 | |
31857 | 51 | V/I | 68 | None | 0.1937 | None | gnomAD-4.0.0 | 1.59146E-06 | |
31858 | 52 | N/S | 69 | rs771395028 | 0.1251 | None | gnomAD-2.1.1 | 4.02E-05 | |
31858 | 52 | N/S | 69 | rs771395028 | 0.1251 | None | gnomAD-3.1.2 | 3.29E-05 | |
31858 | 52 | N/S | 69 | rs771395028 | 0.1251 | None | gnomAD-4.0.0 | 1.85912E-05 | |
31860 | 54 | D/E | 72 | None | 0.8725 | None | gnomAD-4.0.0 | 6.84255E-07 | |
31861 | 55 | Y/C | 73 | rs59148238 | 0.3805 | None | gnomAD-2.1.1 | 2.8891E-04 | |
31861 | 55 | Y/C | 73 | rs59148238 | 0.3805 | None | gnomAD-3.1.2 | 8.28152E-04 | |
31861 | 55 | Y/C | 73 | rs59148238 | 0.3805 | None | 1000 genomes | 1.19808E-03 | |
31861 | 55 | Y/C | 73 | rs59148238 | 0.3805 | None | gnomAD-4.0.0 | 1.87768E-04 | |
31862 | 56 | V/A | 75 | None | 0.3475 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31863 | 57 | V/A | 77 | None | 0.1210 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31863 | 57 | V/L | 77 | None | 0.1210 | None | gnomAD-4.0.0 | 1.59153E-06 | |
31863 | 57 | V/M | 77 | rs1261237419 | 0.1210 | None | gnomAD-2.1.1 | 4.02E-06 | |
31864 | 58 | Y/C | 83 | None | 0.6397 | None | gnomAD-4.0.0 | 5.47409E-06 | |
31864 | 58 | Y/F | 83 | None | 0.6397 | None | gnomAD-4.0.0 | 6.84261E-07 | |
31864 | 58 | Y/H | 83 | None | 0.6397 | None | gnomAD-4.0.0 | 3.18308E-06 | |
31865 | 59 | D/A | 88 | None | 0.5761 | None | gnomAD-4.0.0 | 1.59155E-06 | |
31865 | 59 | D/E | 88 | rs745843064 | 0.5761 | None | gnomAD-2.1.1 | 4.02E-06 | |
31865 | 59 | D/H | 88 | rs1696661402 | 0.5761 | None | gnomAD-3.1.2 | 6.57E-06 | |
31865 | 59 | D/H | 88 | rs1696661402 | 0.5761 | None | gnomAD-4.0.0 | 3.84385E-06 | |
31866 | 60 | T/A | 89 | rs1559138864 | 0.1449 | None | gnomAD-2.1.1 | 4.02E-06 | |
31866 | 60 | T/A | 89 | rs1559138864 | 0.1449 | None | gnomAD-4.0.0 | 3.1831E-06 | |
31867 | 61 | R/G | 90 | rs778708400 | 0.4456 | None | gnomAD-4.0.0 | 3.42136E-06 | |
31867 | 61 | R/S | 90 | None | 0.4456 | None | gnomAD-4.0.0 | 2.40064E-06 | |
31868 | 62 | L/M | 91 | None | 0.1881 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31868 | 62 | L/Q | 91 | rs1559138758 | 0.1881 | None | gnomAD-2.1.1 | 4.02E-06 | |
31868 | 62 | L/Q | 91 | rs1559138758 | 0.1881 | None | gnomAD-4.0.0 | 1.59163E-06 | |
31872 | 66 | S/G | 96 | None | 0.6828 | None | gnomAD-4.0.0 | 1.59171E-06 | |
31872 | 66 | S/R | 96 | rs757129504 | 0.6828 | None | gnomAD-2.1.1 | 1.61E-05 | |
31872 | 66 | S/R | 96 | rs757129504 | 0.6828 | None | gnomAD-3.1.2 | 1.31E-05 | |
31872 | 66 | S/R | 96 | rs757129504 | 0.6828 | None | gnomAD-4.0.0 | 6.01193E-05 | |
31872 | 66 | S/T | 96 | rs1696652076 | 0.6828 | None | gnomAD-3.1.2 | 6.57E-06 | |
31872 | 66 | S/T | 96 | rs1696652076 | 0.6828 | None | gnomAD-4.0.0 | 6.57168E-06 | |
31873 | 67 | L/M | 97 | rs748974241 | 0.0948 | None | gnomAD-2.1.1 | 8.04E-06 | |
31873 | 67 | L/M | 97 | rs748974241 | 0.0948 | None | gnomAD-4.0.0 | 1.59174E-06 | |
31873 | 67 | L/R | 97 | rs778060662 | 0.0948 | None | gnomAD-2.1.1 | 2.01E-05 | |
31873 | 67 | L/R | 97 | rs778060662 | 0.0948 | None | gnomAD-3.1.2 | 1.31E-05 | |
31873 | 67 | L/R | 97 | rs778060662 | 0.0948 | None | gnomAD-4.0.0 | 1.23955E-05 | |
31874 | 68 | M/R | 98 | rs1405952396 | 0.4772 | None | gnomAD-2.1.1 | 4.02E-06 | |
31874 | 68 | M/T | 98 | None | 0.4772 | None | gnomAD-4.0.0 | 1.59179E-06 | |
31875 | 69 | E/K | 99 | rs371534086 | 0.4271 | None | gnomAD-3.1.2 | 6.57E-06 | |
31875 | 69 | E/K | 99 | rs371534086 | 0.4271 | None | gnomAD-4.0.0 | 1.85935E-06 | |
31877 | 71 | C/Y | 102 | rs1335546534 | 0.2149 | None | gnomAD-2.1.1 | 3.19E-05 | |
31877 | 71 | C/Y | 102 | rs1335546534 | 0.2149 | None | gnomAD-3.1.2 | 6.57E-06 | |
31877 | 71 | C/Y | 102 | rs1335546534 | 0.2149 | None | gnomAD-4.0.0 | 6.57142E-06 | |
31878 | 72 | D/N | 103 | rs752844593 | 0.2598 | None | gnomAD-2.1.1 | 1.21E-05 | |
31878 | 72 | D/N | 103 | rs752844593 | 0.2598 | None | gnomAD-4.0.0 | 3.62726E-05 | |
31881 | 75 | F/I | 106 | None | 0.1138 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31881 | 75 | F/L | 106 | rs1157557986 | 0.1138 | None | gnomAD-2.1.1 | 4.03E-06 | |
31881 | 75 | F/L | 106 | rs1157557986 | 0.1138 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31882 | 76 | R/Q | 107 | rs767746607 | 0.1960 | None | gnomAD-2.1.1 | 1.79E-05 | |
31882 | 76 | R/Q | 107 | rs767746607 | 0.1960 | None | gnomAD-3.1.2 | 1.31E-05 | |
31882 | 76 | R/Q | 107 | rs767746607 | 0.1960 | None | gnomAD-4.0.0 | 7.44054E-06 | |
31882 | 76 | R/W | 107 | rs745999245 | 0.1960 | None | gnomAD-2.1.1 | 4.03E-06 | |
31882 | 76 | R/W | 107 | rs745999245 | 0.1960 | None | gnomAD-4.0.0 | 9.58388E-06 | |
31883 | 77 | V/M | 108 | rs72648262 | 0.0769 | None | gnomAD-2.1.1 | 1.61E-05 | |
31883 | 77 | V/M | 108 | rs72648262 | 0.0769 | None | gnomAD-3.1.2 | 3.29E-05 | |
31883 | 77 | V/M | 108 | rs72648262 | 0.0769 | None | gnomAD-4.0.0 | 2.43639E-05 | |
31884 | 78 | T/I | 109 | rs977811552 | 0.1254 | None | gnomAD-2.1.1 | 8.07E-06 | |
31884 | 78 | T/I | 109 | rs977811552 | 0.1254 | None | gnomAD-4.0.0 | 6.38457E-06 | |
31885 | 79 | A/S | 110 | rs72648263 | 0.0759 | None | gnomAD-2.1.1 | 4.04E-06 | |
31885 | 79 | A/S | 110 | rs72648263 | 0.0759 | None | gnomAD-3.1.2 | 1.31E-05 | |
31885 | 79 | A/S | 110 | rs72648263 | 0.0759 | None | gnomAD-4.0.0 | 1.862E-06 | |
31885 | 79 | A/T | 110 | rs72648263 | 0.0759 | None | gnomAD-2.1.1 | 6.92029E-04 | |
31885 | 79 | A/T | 110 | rs72648263 | 0.0759 | None | gnomAD-3.1.2 | 6.37504E-04 | |
31885 | 79 | A/T | 110 | rs72648263 | 0.0759 | None | gnomAD-4.0.0 | 1.00292E-03 | |
31885 | 79 | A/V | 110 | rs1307812044 | 0.0759 | None | gnomAD-3.1.2 | 6.57E-06 | |
31885 | 79 | A/V | 110 | rs1307812044 | 0.0759 | None | gnomAD-4.0.0 | 6.20499E-06 | |
31887 | 81 | N/I | 112 | None | 0.1262 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31889 | 83 | A/T | 114 | rs1025105445 | 0.5425 | None | gnomAD-3.1.2 | 1.31E-05 | |
31889 | 83 | A/T | 114 | rs1025105445 | 0.5425 | None | gnomAD-4.0.0 | 3.04476E-06 | |
31890 | 84 | G/V | 115 | rs763832653 | 0.2084 | None | gnomAD-2.1.1 | 1.22E-05 | |
31890 | 84 | G/V | 115 | rs763832653 | 0.2084 | None | gnomAD-3.1.2 | 6.57E-06 | |
31890 | 84 | G/V | 115 | rs763832653 | 0.2084 | None | gnomAD-4.0.0 | 2.57948E-06 | |
31891 | 85 | N/D | 117 | rs1351753792 | 0.5393 | None | gnomAD-2.1.1 | 8.1E-06 | |
31891 | 85 | N/D | 117 | rs1351753792 | 0.5393 | None | gnomAD-3.1.2 | 6.57E-06 | |
31891 | 85 | N/D | 117 | rs1351753792 | 0.5393 | None | gnomAD-4.0.0 | 6.57039E-06 | |
31892 | 86 | S/G | 118 | None | 0.0885 | None | gnomAD-4.0.0 | 3.60097E-06 | |
31892 | 86 | S/I | 118 | rs186675165 | 0.0885 | None | gnomAD-2.1.1 | 4.06E-06 | |
31892 | 86 | S/I | 118 | rs186675165 | 0.0885 | None | gnomAD-3.1.2 | 6.57E-06 | |
31892 | 86 | S/I | 118 | rs186675165 | 0.0885 | None | 1000 genomes | 1.99681E-04 | |
31892 | 86 | S/I | 118 | rs186675165 | 0.0885 | None | gnomAD-4.0.0 | 2.02959E-06 | |
31893 | 87 | E/K | 119 | rs1241275942 | 0.6098 | None | gnomAD-2.1.1 | 4.07E-06 | |
31893 | 87 | E/K | 119 | rs1241275942 | 0.6098 | None | gnomAD-4.0.0 | 3.23073E-06 | |
31895 | 89 | S/G | 121 | rs775090787 | 0.1236 | None | gnomAD-2.1.1 | 8.2E-06 | |
31895 | 89 | S/G | 121 | rs775090787 | 0.1236 | None | gnomAD-3.1.2 | 6.57E-06 | |
31895 | 89 | S/G | 121 | rs775090787 | 0.1236 | None | gnomAD-4.0.0 | 2.49938E-06 | |
31895 | 89 | S/R | 121 | rs771633297 | 0.1236 | None | gnomAD-2.1.1 | 4.11E-06 | |
31895 | 89 | S/R | 121 | rs771633297 | 0.1236 | None | gnomAD-4.0.0 | 4.147E-06 | |
31896 | 90 | E/K | 122 | rs745365163 | 0.8125 | None | gnomAD-2.1.1 | 5.12E-05 | |
31896 | 90 | E/K | 122 | rs745365163 | 0.8125 | None | gnomAD-3.1.2 | 1.31E-05 | |
31896 | 90 | E/K | 122 | rs745365163 | 0.8125 | None | gnomAD-4.0.0 | 1.68914E-05 | |
31896 | 90 | E/V | 122 | rs774355988 | 0.8125 | None | gnomAD-2.1.1 | 5.37E-05 | |
31896 | 90 | E/V | 122 | rs774355988 | 0.8125 | None | gnomAD-4.0.0 | 2.00499E-05 | |
31897 | 91 | A/T | 123 | rs2555815 | 0.2556 | None | gnomAD-3.1.2 | 6.57E-06 | |
31897 | 91 | A/T | 123 | rs2555815 | 0.2556 | None | gnomAD-4.0.0 | 2.63723E-06 | |
31899 | 93 | N/S | 125 | None | 0.9316 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31902 | 96 | S/L | 129 | rs770705757 | 0.3029 | None | gnomAD-2.1.1 | 8.65E-06 | |
31902 | 96 | S/L | 129 | rs770705757 | 0.3029 | None | gnomAD-4.0.0 | 1.05005E-05 | |
31903 | 97 | C/F | 130 | rs1417379558 | 0.0704 | None | gnomAD-2.1.1 | 4.37E-06 | |
31903 | 97 | C/F | 130 | rs1417379558 | 0.0704 | None | gnomAD-4.0.0 | 3.37457E-06 | |
31903 | 97 | C/R | 130 | None | 0.0704 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31905 | 99 | E/Q | 132 | rs777381153 | 0.5242 | None | gnomAD-2.1.1 | 4.5E-06 | |
31905 | 99 | E/Q | 132 | rs777381153 | 0.5242 | None | gnomAD-4.0.0 | 2.11808E-06 |