10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | R | F | V | K | K | L | S | D | I | S | T | V | V | G | K | E | V | Q | L | Q | T | T | I | E | G | A | E | P | I | S | V | V | W | F | K | D | K | G | E | I | V | R | E | S | D | N | I | W | I | S | Y | S | E | N | I | A | T | L | Q | F | S | R | V | E | P | A | N | A | G | K | Y | T | C | Q | I | K | N | D | A | G | M | Q | E | C | F | A | T | L | S | V | L |
P | R | F | V | K | K | L | S | D | I | S | T | V | V | G | K | E | V | Q | L | Q | T | T | I | E | G | A | E | P | I | S | V | V | W | F | K | D | K | G | E | I | V | R | E | S | D | N | I | W | I | S | Y | S | E | N | I | A | T | L | Q | F | S | R | V | E | P | A | N | A | G | K | Y | T | C | Q | I | K | N | D | A | G | M | Q | E | C | F | A | T | L | S | V | - |
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 |
---|---|---|---|---|---|---|---|---|---|
8736 | 1 | P/L | 1 | rs1444367941 | 0.1964 | None | gnomAD-3.1.2 | 6.57E-06 | |
8736 | 1 | P/S | 1 | rs777166872 | 0.1964 | None | gnomAD-3.1.2 | 6.57E-06 | |
8736 | 1 | P/S | 1 | rs777166872 | 0.1964 | None | gnomAD-4.0.0 | 1.2548E-06 | |
8736 | 1 | P/T | 1 | rs777166872 | 0.1964 | None | gnomAD-2.1.1 | 1.26E-05 | |
8736 | 1 | P/T | 1 | rs777166872 | 0.1964 | None | gnomAD-4.0.0 | 2.77438E-06 | |
8737 | 2 | R/K | 2 | rs769711887 | 0.4036 | None | gnomAD-2.1.1 | 4.19E-06 | |
8737 | 2 | R/K | 2 | rs769711887 | 0.4036 | None | gnomAD-4.0.0 | 6.9355E-07 | |
8738 | 3 | F/I | 3 | rs1335039200 | 0.1633 | None | gnomAD-2.1.1 | 1.24E-05 | |
8738 | 3 | F/I | 3 | rs1335039200 | 0.1633 | None | gnomAD-3.1.2 | 6.57E-06 | |
8738 | 3 | F/I | 3 | rs1335039200 | 0.1633 | None | gnomAD-4.0.0 | 1.12549E-05 | |
8738 | 3 | F/S | 3 | rs1304792247 | 0.1633 | None | gnomAD-4.0.0 | 1.62391E-06 | |
8739 | 4 | V/L | 4 | None | 0.4068 | None | gnomAD-4.0.0 | 1.61987E-06 | |
8741 | 6 | K/E | 7 | rs538959125 | 0.7068 | None | gnomAD-2.1.1 | 1.78299E-04 | |
8741 | 6 | K/E | 7 | rs538959125 | 0.7068 | None | gnomAD-3.1.2 | 9.2E-05 | |
8741 | 6 | K/E | 7 | rs538959125 | 0.7068 | None | 1000 genomes | 3.99361E-04 | |
8741 | 6 | K/E | 7 | rs538959125 | 0.7068 | None | gnomAD-4.0.0 | 3.2426E-05 | |
8741 | 6 | K/Q | 7 | None | 0.7068 | None | gnomAD-4.0.0 | 6.89001E-07 | |
8742 | 7 | L/P | 8 | rs1302096327 | 0.2125 | None | gnomAD-2.1.1 | 4.07E-06 | |
8742 | 7 | L/P | 8 | rs1302096327 | 0.2125 | None | gnomAD-4.0.0 | 7.56262E-06 | |
8743 | 8 | S/G | 9 | rs997483780 | 0.6306 | None | gnomAD-4.0.0 | 4.12439E-06 | |
8743 | 8 | S/N | 9 | None | 0.6306 | None | gnomAD-4.0.0 | 1.60822E-06 | |
8744 | 9 | D/G | 11 | rs189391840 | 0.6077 | None | gnomAD-2.1.1 | 2.03E-05 | |
8744 | 9 | D/G | 11 | rs189391840 | 0.6077 | None | gnomAD-3.1.2 | 2.63E-05 | |
8744 | 9 | D/G | 11 | rs189391840 | 0.6077 | None | 1000 genomes | 5.99042E-04 | |
8744 | 9 | D/G | 11 | rs189391840 | 0.6077 | None | gnomAD-4.0.0 | 4.97728E-06 | |
8745 | 10 | I/M | 13 | rs2077168515 | 0.3055 | None | gnomAD-3.1.2 | 6.57E-06 | |
8745 | 10 | I/M | 13 | rs2077168515 | 0.3055 | None | gnomAD-4.0.0 | 6.5716E-06 | |
8745 | 10 | I/T | 13 | rs1176501015 | 0.3055 | None | gnomAD-2.1.1 | 4.04E-06 | |
8745 | 10 | I/T | 13 | rs1176501015 | 0.3055 | None | gnomAD-4.0.0 | 1.5968E-06 | |
8745 | 10 | I/V | 13 | rs901437058 | 0.3055 | None | gnomAD-3.1.2 | 1.31E-05 | |
8745 | 10 | I/V | 13 | rs901437058 | 0.3055 | None | gnomAD-4.0.0 | 1.31328E-05 | |
8746 | 11 | S/P | 14 | None | 0.5806 | None | gnomAD-4.0.0 | 1.59661E-06 | |
8748 | 13 | V/A | 18 | rs1362528703 | 0.5204 | None | gnomAD-2.1.1 | 7.16E-06 | |
8748 | 13 | V/A | 18 | rs1362528703 | 0.5204 | None | gnomAD-3.1.2 | 6.58E-06 | |
8748 | 13 | V/A | 18 | rs1362528703 | 0.5204 | None | gnomAD-4.0.0 | 3.10035E-06 | |
8748 | 13 | V/I | 18 | rs1456259621 | 0.5204 | None | gnomAD-2.1.1 | 4.04E-06 | |
8748 | 13 | V/I | 18 | rs1456259621 | 0.5204 | None | gnomAD-3.1.2 | 6.57E-06 | |
8748 | 13 | V/I | 18 | rs1456259621 | 0.5204 | None | gnomAD-4.0.0 | 2.56537E-06 | |
8748 | 13 | V/L | 18 | None | 0.5204 | None | gnomAD-4.0.0 | 1.5936E-06 | |
8749 | 14 | V/A | 23 | rs770874023 | 0.4092 | None | gnomAD-2.1.1 | 3.63E-05 | |
8749 | 14 | V/A | 23 | rs770874023 | 0.4092 | None | gnomAD-3.1.2 | 2.63E-05 | |
8749 | 14 | V/A | 23 | rs770874023 | 0.4092 | None | gnomAD-4.0.0 | 2.72796E-05 | |
8749 | 14 | V/I | 23 | rs16866457 | 0.4092 | None | gnomAD-2.1.1 | 5.20363E-03 | |
8749 | 14 | V/I | 23 | rs16866457 | 0.4092 | None | gnomAD-3.1.2 | 1.249E-02 | |
8749 | 14 | V/I | 23 | rs16866457 | 0.4092 | None | 1000 genomes | 1.61741E-02 | |
8749 | 14 | V/I | 23 | rs16866457 | 0.4092 | None | gnomAD-4.0.0 | 3.01617E-03 | |
8750 | 15 | G/C | 24 | rs757423560 | 0.3339 | None | gnomAD-2.1.1 | 4.03E-06 | |
8750 | 15 | G/C | 24 | rs757423560 | 0.3339 | None | gnomAD-4.0.0 | 6.84531E-07 | |
8750 | 15 | G/S | 24 | None | 0.3339 | None | gnomAD-4.0.0 | 6.84531E-07 | |
8752 | 17 | E/A | 26 | None | 0.4964 | None | gnomAD-4.0.0 | 1.59258E-06 | |
8752 | 17 | E/K | 26 | None | 0.4964 | None | gnomAD-4.0.0 | 6.84474E-07 | |
8753 | 18 | V/G | 28 | rs867579263 | 0.1882 | None | gnomAD-4.0.0 | 5.4756E-06 | |
8753 | 18 | V/I | 28 | rs373070956 | 0.1882 | None | gnomAD-2.1.1 | 4.03E-06 | |
8753 | 18 | V/I | 28 | rs373070956 | 0.1882 | None | gnomAD-3.1.2 | 6.57E-06 | |
8753 | 18 | V/I | 28 | rs373070956 | 0.1882 | None | gnomAD-4.0.0 | 6.57367E-06 | |
8754 | 19 | Q/H | 29 | rs764746720 | 0.4300 | None | gnomAD-2.1.1 | 4.03E-06 | |
8754 | 19 | Q/H | 29 | rs764746720 | 0.4300 | None | gnomAD-3.1.2 | 6.57E-06 | |
8754 | 19 | Q/H | 29 | rs764746720 | 0.4300 | None | gnomAD-4.0.0 | 5.57899E-06 | |
8755 | 20 | L/R | 30 | None | 0.1507 | None | gnomAD-4.0.0 | 1.59232E-06 | |
8756 | 21 | Q/H | 31 | rs776025006 | 0.5097 | None | gnomAD-2.1.1 | 4.03E-06 | |
8756 | 21 | Q/H | 31 | rs776025006 | 0.5097 | None | gnomAD-4.0.0 | 1.5923E-06 | |
8756 | 21 | Q/R | 31 | rs761090454 | 0.5097 | None | gnomAD-2.1.1 | 4.03E-06 | |
8757 | 22 | T/A | 33 | None | 0.1160 | None | gnomAD-4.0.0 | 1.20033E-06 | |
8757 | 22 | T/I | 33 | rs1357129552 | 0.1160 | None | gnomAD-4.0.0 | 6.84407E-07 | |
8757 | 22 | T/N | 33 | None | 0.1160 | None | gnomAD-4.0.0 | 6.84407E-07 | |
8757 | 22 | T/S | 33 | None | 0.1160 | None | gnomAD-4.0.0 | 6.84407E-07 | |
8759 | 24 | I/M | 35 | None | 0.1042 | None | gnomAD-4.0.0 | 1.59203E-06 | |
8759 | 24 | I/T | 35 | rs199918663 | 0.1042 | None | gnomAD-2.1.1 | 2.86E-05 | |
8759 | 24 | I/T | 35 | rs199918663 | 0.1042 | None | gnomAD-3.1.2 | 1.31E-05 | |
8759 | 24 | I/T | 35 | rs199918663 | 0.1042 | None | gnomAD-4.0.0 | 2.29343E-05 | |
8759 | 24 | I/V | 35 | rs1317485542 | 0.1042 | None | gnomAD-2.1.1 | 1.43E-05 | |
8759 | 24 | I/V | 35 | rs1317485542 | 0.1042 | None | gnomAD-3.1.2 | 1.31E-05 | |
8759 | 24 | I/V | 35 | rs1317485542 | 0.1042 | None | gnomAD-4.0.0 | 8.97144E-06 | |
8760 | 25 | E/K | 38 | rs2077161238 | 0.3261 | None | gnomAD-4.0.0 | 1.77937E-05 | |
8761 | 26 | G/S | 40 | rs369385294 | 0.4607 | None | gnomAD-2.1.1 | 5.37E-05 | |
8761 | 26 | G/S | 40 | rs369385294 | 0.4607 | None | gnomAD-3.1.2 | 5.26E-05 | |
8761 | 26 | G/S | 40 | rs369385294 | 0.4607 | None | gnomAD-4.0.0 | 1.41941E-04 | |
8762 | 27 | A/T | 41 | rs1336984327 | 0.5835 | None | gnomAD-2.1.1 | 4.03E-06 | |
8762 | 27 | A/T | 41 | rs1336984327 | 0.5835 | None | gnomAD-3.1.2 | 1.32E-05 | |
8762 | 27 | A/T | 41 | rs1336984327 | 0.5835 | None | gnomAD-4.0.0 | 9.29769E-06 | |
8762 | 27 | A/V | 41 | None | 0.5835 | None | gnomAD-4.0.0 | 1.59196E-06 | |
8763 | 28 | E/A | 42 | rs1453342840 | 0.4321 | None | gnomAD-2.1.1 | 6.37E-05 | |
8763 | 28 | E/A | 42 | rs1453342840 | 0.4321 | None | gnomAD-3.1.2 | 1.97E-05 | |
8763 | 28 | E/A | 42 | rs1453342840 | 0.4321 | None | gnomAD-4.0.0 | 1.97174E-05 | |
8764 | 29 | P/S | 43 | None | 0.7658 | None | gnomAD-4.0.0 | 2.7373E-06 | |
8764 | 29 | P/T | 43 | None | 0.7658 | None | gnomAD-4.0.0 | 6.84326E-07 | |
8765 | 30 | I/T | 44 | rs768619883 | 0.1176 | None | gnomAD-2.1.1 | 2.02E-05 | |
8765 | 30 | I/T | 44 | rs768619883 | 0.1176 | None | gnomAD-3.1.2 | 6.57E-06 | |
8765 | 30 | I/T | 44 | rs768619883 | 0.1176 | None | gnomAD-4.0.0 | 1.28144E-05 | |
8765 | 30 | I/V | 44 | rs776531934 | 0.1176 | None | gnomAD-2.1.1 | 4.03E-06 | |
8765 | 30 | I/V | 44 | rs776531934 | 0.1176 | None | gnomAD-4.0.0 | 1.59174E-06 | |
8766 | 31 | S/L | 45 | rs1368458893 | 0.3681 | None | gnomAD-2.1.1 | 4.03E-06 | |
8766 | 31 | S/L | 45 | rs1368458893 | 0.3681 | None | gnomAD-4.0.0 | 1.5918E-06 | |
8769 | 34 | W/G | 48 | rs779847107 | 0.1333 | None | gnomAD-4.0.0 | 4.7901E-06 | |
8770 | 35 | F/S | 49 | None | 0.1883 | None | gnomAD-4.0.0 | 1.59167E-06 | |
8770 | 35 | F/V | 49 | rs2077156183 | 0.1883 | None | gnomAD-3.1.2 | 6.57E-06 | |
8770 | 35 | F/V | 49 | rs2077156183 | 0.1883 | None | gnomAD-4.0.0 | 6.57324E-06 | |
8771 | 36 | K/R | 50 | None | 0.1444 | None | gnomAD-4.0.0 | 1.59165E-06 | |
8772 | 37 | D/V | 51 | None | 0.4381 | None | gnomAD-4.0.0 | 1.20033E-06 | |
8772 | 37 | D/Y | 51 | None | 0.4381 | None | gnomAD-4.0.0 | 1.20033E-06 | |
8773 | 38 | K/N | 52 | None | 1.1096 | None | gnomAD-4.0.0 | 3.42147E-06 | |
8774 | 39 | G/E | 55 | None | 0.3416 | None | gnomAD-4.0.0 | 6.84279E-07 | |
8775 | 40 | E/A | 56 | rs758590305 | 0.6298 | None | gnomAD-2.1.1 | 4.03E-06 | |
8775 | 40 | E/A | 56 | rs758590305 | 0.6298 | None | gnomAD-4.0.0 | 1.59164E-06 | |
8775 | 40 | E/D | 56 | None | 0.6298 | None | gnomAD-4.0.0 | 1.20033E-06 | |
8776 | 41 | I/L | 57 | rs746071731 | 0.3851 | None | gnomAD-2.1.1 | 4.03E-06 | |
8776 | 41 | I/L | 57 | rs746071731 | 0.3851 | None | gnomAD-4.0.0 | 1.59158E-06 | |
8776 | 41 | I/M | 57 | None | 0.3851 | None | gnomAD-4.0.0 | 6.84287E-07 | |
8776 | 41 | I/V | 57 | rs746071731 | 0.3851 | None | gnomAD-2.1.1 | 8.07E-06 | |
8776 | 41 | I/V | 57 | rs746071731 | 0.3851 | None | gnomAD-3.1.2 | 6.57E-06 | |
8776 | 41 | I/V | 57 | rs746071731 | 0.3851 | None | gnomAD-4.0.0 | 5.1251E-06 | |
8777 | 42 | V/D | 58 | None | 0.1831 | None | gnomAD-4.0.0 | 1.59157E-06 | |
8777 | 42 | V/F | 58 | rs376823283 | 0.1831 | None | gnomAD-2.1.1 | 8.07E-06 | |
8777 | 42 | V/F | 58 | rs376823283 | 0.1831 | None | gnomAD-4.0.0 | 2.73711E-06 | |
8777 | 42 | V/I | 58 | None | 0.1831 | None | gnomAD-2.1.1 | 6.8E-05 | |
8777 | 42 | V/I | 58 | None | 0.1831 | None | gnomAD-3.1.2 | 1.44585E-04 | |
8777 | 42 | V/I | 58 | None | 0.1831 | None | gnomAD-4.0.0 | 1.19612E-04 | |
8777 | 42 | V/L | 58 | rs376823283 | 0.1831 | None | gnomAD-3.1.2 | 6.57E-06 | |
8777 | 42 | V/L | 58 | rs376823283 | 0.1831 | None | gnomAD-4.0.0 | 1.85925E-06 | |
8778 | 43 | R/K | 59 | rs1486145907 | 0.5390 | None | gnomAD-3.1.2 | 1.31E-05 | |
8778 | 43 | R/K | 59 | rs1486145907 | 0.5390 | None | gnomAD-4.0.0 | 8.05664E-06 | |
8778 | 43 | R/S | 59 | rs754011566 | 0.5390 | None | gnomAD-2.1.1 | 4.03E-06 | |
8778 | 43 | R/T | 59 | rs1486145907 | 0.5390 | None | gnomAD-2.1.1 | 4.03E-06 | |
8778 | 43 | R/T | 59 | rs1486145907 | 0.5390 | None | gnomAD-4.0.0 | 6.84268E-07 | |
8780 | 45 | S/G | 73 | None | 0.3266 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8780 | 45 | S/N | 73 | rs764652580 | 0.3266 | None | gnomAD-2.1.1 | 4.03E-06 | |
8780 | 45 | S/N | 73 | rs764652580 | 0.3266 | None | gnomAD-4.0.0 | 1.77904E-05 | |
8780 | 45 | S/R | 73 | rs756708089 | 0.3266 | None | gnomAD-2.1.1 | 4.03E-06 | |
8780 | 45 | S/R | 73 | rs756708089 | 0.3266 | None | gnomAD-4.0.0 | 1.59146E-06 | |
8781 | 46 | D/A | 111 | rs2077152071 | 1.2210 | None | gnomAD-3.1.2 | 6.57E-06 | |
8781 | 46 | D/A | 111 | rs2077152071 | 1.2210 | None | gnomAD-4.0.0 | 6.57168E-06 | |
8781 | 46 | D/N | 111 | None | 1.2210 | None | gnomAD-4.0.0 | 6.00161E-06 | |
8782 | 47 | N/S | 115 | rs727504895 | 0.3026 | None | gnomAD-4.0.0 | 1.36848E-06 | |
8782 | 47 | N/Y | 115 | rs1017848590 | 0.3026 | None | gnomAD-3.1.2 | 1.31E-05 | |
8782 | 47 | N/Y | 115 | rs1017848590 | 0.3026 | None | gnomAD-4.0.0 | 9.29567E-06 | |
8783 | 48 | I/K | 121 | rs1226202295 | 0.1991 | None | gnomAD-3.1.2 | 6.57E-06 | |
8783 | 48 | I/K | 121 | rs1226202295 | 0.1991 | None | gnomAD-4.0.0 | 6.57082E-06 | |
8783 | 48 | I/L | 121 | None | 0.1991 | None | gnomAD-4.0.0 | 6.84237E-07 | |
8783 | 48 | I/M | 121 | rs767996372 | 0.1991 | None | gnomAD-2.1.1 | 4.03E-06 | |
8783 | 48 | I/M | 121 | rs767996372 | 0.1991 | None | gnomAD-4.0.0 | 6.15819E-06 | |
8783 | 48 | I/T | 121 | rs1226202295 | 0.1991 | None | gnomAD-2.1.1 | 4.03E-06 | |
8783 | 48 | I/T | 121 | rs1226202295 | 0.1991 | None | gnomAD-4.0.0 | 1.36848E-06 | |
8783 | 48 | I/V | 121 | rs2077150875 | 0.1991 | None | gnomAD-4.0.0 | 4.78966E-06 | |
8784 | 49 | W/R | 122 | rs375067750 | 0.8739 | None | gnomAD-2.1.1 | 1.21E-05 | |
8784 | 49 | W/R | 122 | rs375067750 | 0.8739 | None | gnomAD-3.1.2 | 1.97E-05 | |
8784 | 49 | W/R | 122 | rs375067750 | 0.8739 | None | gnomAD-4.0.0 | 1.30137E-05 | |
8785 | 50 | I/F | 123 | rs2077149198 | 0.2100 | None | gnomAD-4.0.0 | 3.18283E-06 | |
8786 | 51 | S/A | 125 | None | 0.3312 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8787 | 52 | Y/C | 127 | rs1365431842 | 0.3378 | None | gnomAD-2.1.1 | 8.07E-06 | |
8787 | 52 | Y/C | 127 | rs1365431842 | 0.3378 | None | gnomAD-4.0.0 | 2.05272E-06 | |
8787 | 52 | Y/F | 127 | None | 0.3378 | None | gnomAD-4.0.0 | 6.8424E-07 | |
8790 | 55 | N/D | 134 | rs772728050 | 0.5157 | None | gnomAD-2.1.1 | 2.15E-05 | |
8790 | 55 | N/D | 134 | rs772728050 | 0.5157 | None | gnomAD-3.1.2 | 6.57E-06 | |
8790 | 55 | N/D | 134 | rs772728050 | 0.5157 | None | gnomAD-4.0.0 | 2.47876E-06 | |
8791 | 56 | I/F | 135 | None | 0.3193 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8792 | 57 | A/E | 136 | rs761198294 | 0.1051 | None | gnomAD-2.1.1 | 4.03E-06 | |
8792 | 57 | A/E | 136 | rs761198294 | 0.1051 | None | gnomAD-3.1.2 | 2.63E-05 | |
8792 | 57 | A/E | 136 | rs761198294 | 0.1051 | None | gnomAD-4.0.0 | 4.33802E-06 | |
8792 | 57 | A/S | 136 | rs764989717 | 0.1051 | None | gnomAD-2.1.1 | 4.03E-06 | |
8792 | 57 | A/S | 136 | rs764989717 | 0.1051 | None | gnomAD-3.1.2 | 6.57E-06 | |
8792 | 57 | A/S | 136 | rs764989717 | 0.1051 | None | gnomAD-4.0.0 | 2.5623E-06 | |
8793 | 58 | T/A | 137 | rs776154251 | 0.1775 | None | gnomAD-2.1.1 | 5.37E-05 | |
8793 | 58 | T/A | 137 | rs776154251 | 0.1775 | None | gnomAD-3.1.2 | 1.97E-05 | |
8793 | 58 | T/A | 137 | rs776154251 | 0.1775 | None | gnomAD-4.0.0 | 1.54926E-05 | |
8794 | 59 | L/I | 138 | None | 0.0728 | None | gnomAD-2.1.1 | 4.03E-06 | |
8794 | 59 | L/I | 138 | None | 0.0728 | None | gnomAD-3.1.2 | 1.97E-05 | |
8794 | 59 | L/I | 138 | None | 0.0728 | None | gnomAD-4.0.0 | 3.09861E-06 | |
8794 | 59 | L/V | 138 | rs372229450 | 0.0728 | None | gnomAD-2.1.1 | 2.5E-05 | |
8794 | 59 | L/V | 138 | rs372229450 | 0.0728 | None | gnomAD-3.1.2 | 1.97E-05 | |
8794 | 59 | L/V | 138 | rs372229450 | 0.0728 | None | 1000 genomes | 1.99681E-04 | |
8794 | 59 | L/V | 138 | rs372229450 | 0.0728 | None | gnomAD-4.0.0 | 1.79706E-05 | |
8795 | 60 | Q/E | 139 | None | 0.2630 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8795 | 60 | Q/R | 139 | None | 0.2630 | None | gnomAD-4.0.0 | 1.59134E-06 | |
8796 | 61 | F/C | 140 | None | 0.1213 | None | gnomAD-4.0.0 | 3.42113E-06 | |
8796 | 61 | F/L | 140 | rs1193918191 | 0.1213 | None | gnomAD-2.1.1 | 4.03E-06 | |
8796 | 61 | F/L | 140 | rs1193918191 | 0.1213 | None | gnomAD-4.0.0 | 1.59133E-06 | |
8797 | 62 | S/A | 141 | None | 0.3964 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8798 | 63 | R/K | 143 | None | 0.6918 | None | gnomAD-4.0.0 | 6.84225E-07 | |
8798 | 63 | R/T | 143 | rs771748059 | 0.6918 | None | gnomAD-2.1.1 | 3.22E-05 | |
8798 | 63 | R/T | 143 | rs771748059 | 0.6918 | None | gnomAD-3.1.2 | 6.57E-06 | |
8798 | 63 | R/T | 143 | rs771748059 | 0.6918 | None | gnomAD-4.0.0 | 3.03658E-05 | |
8799 | 64 | V/M | 144 | rs1560601919 | 0.1077 | None | gnomAD-4.0.0 | 6.15807E-06 | |
8801 | 66 | P/A | 146 | rs1220132171 | 0.5515 | None | gnomAD-2.1.1 | 4.03E-06 | |
8801 | 66 | P/A | 146 | rs1220132171 | 0.5515 | None | gnomAD-4.0.0 | 3.18267E-06 | |
8801 | 66 | P/L | 146 | rs778967914 | 0.5515 | None | gnomAD-2.1.1 | 8.05E-06 | |
8801 | 66 | P/L | 146 | rs778967914 | 0.5515 | None | gnomAD-4.0.0 | 4.10536E-06 | |
8801 | 66 | P/T | 146 | None | 0.5515 | None | gnomAD-4.0.0 | 3.18267E-06 | |
8802 | 67 | A/D | 148 | rs1292226345 | 0.5075 | None | gnomAD-2.1.1 | 4.03E-06 | |
8802 | 67 | A/D | 148 | rs1292226345 | 0.5075 | None | gnomAD-4.0.0 | 1.59134E-06 | |
8803 | 68 | N/S | 149 | rs12693164 | 0.2195 | None | gnomAD-2.1.1 | 1.77519E-01 | |
8803 | 68 | N/S | 149 | rs12693164 | 0.2195 | None | gnomAD-3.1.2 | 1.68341E-01 | |
8803 | 68 | N/S | 149 | rs12693164 | 0.2195 | None | 1000 genomes | 2.47005E-01 | |
8803 | 68 | N/S | 149 | rs12693164 | 0.2195 | None | gnomAD-4.0.0 | 1.64667E-01 | |
8804 | 69 | A/P | 151 | rs778012263 | 0.2415 | None | gnomAD-3.1.2 | 6.57E-06 | |
8804 | 69 | A/P | 151 | rs778012263 | 0.2415 | None | gnomAD-4.0.0 | 1.85913E-06 | |
8804 | 69 | A/S | 151 | rs778012263 | 0.2415 | None | gnomAD-2.1.1 | 4.03E-06 | |
8805 | 70 | G/R | 152 | rs756620595 | 0.1725 | None | gnomAD-2.1.1 | 4.03E-06 | |
8805 | 70 | G/R | 152 | rs756620595 | 0.1725 | None | gnomAD-4.0.0 | 1.59136E-06 | |
8808 | 73 | T/A | 155 | None | 0.1743 | None | gnomAD-4.0.0 | 1.20033E-06 | |
8809 | 74 | C/R | 156 | rs753253530 | 0.0682 | None | gnomAD-2.1.1 | 4.02E-06 | |
8810 | 75 | Q/H | 157 | rs781752797 | 0.2059 | None | gnomAD-2.1.1 | 8.05E-06 | |
8810 | 75 | Q/H | 157 | rs781752797 | 0.2059 | None | gnomAD-4.0.0 | 9.57938E-06 | |
8810 | 75 | Q/L | 157 | rs934473433 | 0.2059 | None | gnomAD-2.1.1 | 4.02E-06 | |
8810 | 75 | Q/L | 157 | rs934473433 | 0.2059 | None | gnomAD-3.1.2 | 6.57E-06 | |
8810 | 75 | Q/L | 157 | rs934473433 | 0.2059 | None | gnomAD-4.0.0 | 5.12471E-06 | |
8811 | 76 | I/V | 158 | rs1346764958 | 0.0700 | None | gnomAD-2.1.1 | 4.02E-06 | |
8811 | 76 | I/V | 158 | rs1346764958 | 0.0700 | None | gnomAD-4.0.0 | 4.8013E-06 | |
8813 | 78 | N/S | 161 | rs2077136991 | 0.1796 | None | gnomAD-4.0.0 | 1.5916E-06 | |
8814 | 79 | D/N | 162 | rs1035364658 | 0.9465 | None | gnomAD-2.1.1 | 4.02E-06 | |
8814 | 79 | D/N | 162 | rs1035364658 | 0.9465 | None | gnomAD-4.0.0 | 1.59175E-06 | |
8814 | 79 | D/Y | 162 | rs1035364658 | 0.9465 | None | gnomAD-3.1.2 | 6.57E-06 | |
8814 | 79 | D/Y | 162 | rs1035364658 | 0.9465 | None | gnomAD-4.0.0 | 6.57315E-06 | |
8815 | 80 | A/G | 163 | rs1168744166 | 0.6753 | None | gnomAD-2.1.1 | 7.15E-06 | |
8815 | 80 | A/G | 163 | rs1168744166 | 0.6753 | None | gnomAD-3.1.2 | 1.31E-05 | |
8815 | 80 | A/G | 163 | rs1168744166 | 0.6753 | None | gnomAD-4.0.0 | 8.96895E-06 | |
8815 | 80 | A/V | 163 | rs1168744166 | 0.6753 | None | gnomAD-2.1.1 | 4.02E-06 | |
8815 | 80 | A/V | 163 | rs1168744166 | 0.6753 | None | gnomAD-4.0.0 | 3.18348E-06 | |
8817 | 82 | M/I | 165 | rs1427255919 | 0.4506 | None | gnomAD-2.1.1 | 8.05E-06 | |
8817 | 82 | M/I | 165 | rs1427255919 | 0.4506 | None | gnomAD-4.0.0 | 3.18436E-06 | |
8817 | 82 | M/T | 165 | rs1469529188 | 0.4506 | None | gnomAD-2.1.1 | 4.02E-06 | |
8817 | 82 | M/T | 165 | rs1469529188 | 0.4506 | None | gnomAD-4.0.0 | 9.58085E-06 | |
8817 | 82 | M/V | 165 | rs878856898 | 0.4506 | None | gnomAD-4.0.0 | 1.5918E-06 | |
8818 | 83 | Q/K | 166 | rs2077133872 | 0.3659 | None | gnomAD-3.1.2 | 6.58E-06 | |
8818 | 83 | Q/K | 166 | rs2077133872 | 0.3659 | None | gnomAD-4.0.0 | 2.56377E-06 | |
8819 | 84 | E/D | 168 | rs1242327696 | 0.4452 | None | gnomAD-2.1.1 | 1.91058E-04 | |
8819 | 84 | E/D | 168 | rs1242327696 | 0.4452 | None | gnomAD-3.1.2 | 4.6E-05 | |
8819 | 84 | E/D | 168 | rs1242327696 | 0.4452 | None | gnomAD-4.0.0 | 4.60109E-05 | |
8819 | 84 | E/K | 168 | rs1452521377 | 0.4452 | None | gnomAD-4.0.0 | 2.73754E-06 | |
8820 | 85 | C/G | 169 | rs1193461740 | 0.1036 | None | gnomAD-3.1.2 | 6.58E-06 | |
8820 | 85 | C/G | 169 | rs1193461740 | 0.1036 | None | gnomAD-4.0.0 | 6.57592E-06 | |
8820 | 85 | C/Y | 169 | rs778500616 | 0.1036 | None | gnomAD-2.1.1 | 4.02E-06 | |
8820 | 85 | C/Y | 169 | rs778500616 | 0.1036 | None | gnomAD-4.0.0 | 1.59325E-06 | |
8822 | 87 | A/S | 172 | None | 0.1113 | None | gnomAD-4.0.0 | 2.73873E-06 | |
8822 | 87 | A/T | 172 | rs184883436 | 0.1113 | None | gnomAD-2.1.1 | 9.29E-05 | |
8822 | 87 | A/T | 172 | rs184883436 | 0.1113 | None | gnomAD-3.1.2 | 4.6E-05 | |
8822 | 87 | A/T | 172 | rs184883436 | 0.1113 | None | gnomAD-4.0.0 | 5.76658E-05 | |
8822 | 87 | A/V | 172 | rs753291479 | 0.1113 | None | gnomAD-2.1.1 | 4.02E-06 | |
8822 | 87 | A/V | 172 | rs753291479 | 0.1113 | None | gnomAD-4.0.0 | 1.57463E-05 | |
8823 | 88 | T/K | 173 | rs368151971 | 0.3497 | None | gnomAD-2.1.1 | 4.03E-06 | |
8823 | 88 | T/K | 173 | rs368151971 | 0.3497 | None | gnomAD-4.0.0 | 6.84809E-07 | |
8823 | 88 | T/M | 173 | rs368151971 | 0.3497 | None | gnomAD-2.1.1 | 2.01E-05 | |
8823 | 88 | T/M | 173 | rs368151971 | 0.3497 | None | gnomAD-3.1.2 | 5.92E-05 | |
8823 | 88 | T/M | 173 | rs368151971 | 0.3497 | None | 1000 genomes | 1.99681E-04 | |
8823 | 88 | T/M | 173 | rs368151971 | 0.3497 | None | gnomAD-4.0.0 | 1.98452E-05 | |
8823 | 88 | T/R | 173 | None | 0.3497 | None | gnomAD-4.0.0 | 6.84809E-07 | |
8824 | 89 | L/I | 174 | rs1322441627 | 0.1242 | None | gnomAD-2.1.1 | 3.19E-05 | |
8824 | 89 | L/I | 174 | rs1322441627 | 0.1242 | None | gnomAD-3.1.2 | 6.57E-06 | |
8824 | 89 | L/I | 174 | rs1322441627 | 0.1242 | None | gnomAD-4.0.0 | 6.57263E-06 | |
8825 | 90 | S/F | 175 | rs2077128629 | 0.3495 | None | gnomAD-4.0.0 | 1.59566E-06 | |
8826 | 91 | V/I | 178 | rs200116046 | 0.2142 | None | gnomAD-2.1.1 | 4.03E-06 | |
8826 | 91 | V/I | 178 | rs200116046 | 0.2142 | None | gnomAD-4.0.0 | 2.74088E-06 |