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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

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
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

Map SAVs to Structure

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 0.1549 None gnomAD-3.1.2 6.57E-06
8736 1 P/S 1 rs777166872 0.1549 None gnomAD-3.1.2 6.57E-06
8736 1 P/S 1 rs777166872 0.1549 None gnomAD-4.0.0 1.2548E-06
8736 1 P/T 1 rs777166872 0.1549 None gnomAD-2.1.1 1.26E-05
8736 1 P/T 1 rs777166872 0.1549 None gnomAD-4.0.0 2.77438E-06
8737 2 R/K 2 rs769711887 0.4902 None gnomAD-2.1.1 4.19E-06
8737 2 R/K 2 rs769711887 0.4902 None gnomAD-4.0.0 6.9355E-07
8738 3 F/I 3 rs1335039200 0.1191 None gnomAD-2.1.1 1.24E-05
8738 3 F/I 3 rs1335039200 0.1191 None gnomAD-3.1.2 6.57E-06
8738 3 F/I 3 rs1335039200 0.1191 None gnomAD-4.0.0 1.12549E-05
8738 3 F/S 3 rs1304792247 0.1191 None gnomAD-4.0.0 1.62391E-06
8739 4 V/L 4 None 0.4840 None gnomAD-4.0.0 1.61987E-06
8741 6 K/E 7 rs538959125 0.5372 None gnomAD-2.1.1 1.78299E-04
8741 6 K/E 7 rs538959125 0.5372 None gnomAD-3.1.2 9.2E-05
8741 6 K/E 7 rs538959125 0.5372 None 1000 genomes 3.99361E-04
8741 6 K/E 7 rs538959125 0.5372 None gnomAD-4.0.0 3.2426E-05
8741 6 K/Q 7 None 0.5372 None gnomAD-4.0.0 6.89001E-07
8742 7 L/P 8 rs1302096327 0.2303 None gnomAD-2.1.1 4.07E-06
8742 7 L/P 8 rs1302096327 0.2303 None gnomAD-4.0.0 7.56262E-06
8743 8 S/G 9 rs997483780 0.5594 None gnomAD-4.0.0 4.12439E-06
8743 8 S/N 9 None 0.5594 None gnomAD-4.0.0 1.60822E-06
8744 9 D/G 11 rs189391840 0.9105 None gnomAD-2.1.1 2.03E-05
8744 9 D/G 11 rs189391840 0.9105 None gnomAD-3.1.2 2.63E-05
8744 9 D/G 11 rs189391840 0.9105 None 1000 genomes 5.99042E-04
8744 9 D/G 11 rs189391840 0.9105 None gnomAD-4.0.0 4.97728E-06
8745 10 I/M 13 rs2077168515 0.5884 None gnomAD-3.1.2 6.57E-06
8745 10 I/M 13 rs2077168515 0.5884 None gnomAD-4.0.0 6.5716E-06
8745 10 I/T 13 rs1176501015 0.5884 None gnomAD-2.1.1 4.04E-06
8745 10 I/T 13 rs1176501015 0.5884 None gnomAD-4.0.0 1.5968E-06
8745 10 I/V 13 rs901437058 0.5884 None gnomAD-3.1.2 1.31E-05
8745 10 I/V 13 rs901437058 0.5884 None gnomAD-4.0.0 1.31328E-05
8746 11 S/P 14 None 0.3312 None gnomAD-4.0.0 1.59661E-06
8748 13 V/A 18 rs1362528703 0.2054 None gnomAD-2.1.1 7.16E-06
8748 13 V/A 18 rs1362528703 0.2054 None gnomAD-3.1.2 6.58E-06
8748 13 V/A 18 rs1362528703 0.2054 None gnomAD-4.0.0 3.10035E-06
8748 13 V/I 18 rs1456259621 0.2054 None gnomAD-2.1.1 4.04E-06
8748 13 V/I 18 rs1456259621 0.2054 None gnomAD-3.1.2 6.57E-06
8748 13 V/I 18 rs1456259621 0.2054 None gnomAD-4.0.0 2.56537E-06
8748 13 V/L 18 None 0.2054 None gnomAD-4.0.0 1.5936E-06
8749 14 V/A 23 rs770874023 0.8071 None gnomAD-2.1.1 3.63E-05
8749 14 V/A 23 rs770874023 0.8071 None gnomAD-3.1.2 2.63E-05
8749 14 V/A 23 rs770874023 0.8071 None gnomAD-4.0.0 2.72796E-05
8749 14 V/I 23 rs16866457 0.8071 None gnomAD-2.1.1 5.20363E-03
8749 14 V/I 23 rs16866457 0.8071 None gnomAD-3.1.2 1.249E-02
8749 14 V/I 23 rs16866457 0.8071 None 1000 genomes 1.61741E-02
8749 14 V/I 23 rs16866457 0.8071 None gnomAD-4.0.0 3.01617E-03
8750 15 G/C 24 rs757423560 0.3750 None gnomAD-2.1.1 4.03E-06
8750 15 G/C 24 rs757423560 0.3750 None gnomAD-4.0.0 6.84531E-07
8750 15 G/S 24 None 0.3750 None gnomAD-4.0.0 6.84531E-07
8752 17 E/A 26 None 0.4633 None gnomAD-4.0.0 1.59258E-06
8752 17 E/K 26 None 0.4633 None gnomAD-4.0.0 6.84474E-07
8753 18 V/G 28 rs867579263 0.3655 None gnomAD-4.0.0 5.4756E-06
8753 18 V/I 28 rs373070956 0.3655 None gnomAD-2.1.1 4.03E-06
8753 18 V/I 28 rs373070956 0.3655 None gnomAD-3.1.2 6.57E-06
8753 18 V/I 28 rs373070956 0.3655 None gnomAD-4.0.0 6.57367E-06
8754 19 Q/H 29 rs764746720 0.6505 None gnomAD-2.1.1 4.03E-06
8754 19 Q/H 29 rs764746720 0.6505 None gnomAD-3.1.2 6.57E-06
8754 19 Q/H 29 rs764746720 0.6505 None gnomAD-4.0.0 5.57899E-06
8755 20 L/R 30 None 0.2354 None gnomAD-4.0.0 1.59232E-06
8756 21 Q/H 31 rs776025006 0.4193 None gnomAD-2.1.1 4.03E-06
8756 21 Q/H 31 rs776025006 0.4193 None gnomAD-4.0.0 1.5923E-06
8756 21 Q/R 31 rs761090454 0.4193 None gnomAD-2.1.1 4.03E-06
8757 22 T/A 33 None 0.0923 None gnomAD-4.0.0 1.20033E-06
8757 22 T/I 33 rs1357129552 0.0923 None gnomAD-4.0.0 6.84407E-07
8757 22 T/N 33 None 0.0923 None gnomAD-4.0.0 6.84407E-07
8757 22 T/S 33 None 0.0923 None gnomAD-4.0.0 6.84407E-07
8759 24 I/M 35 None 0.0709 None gnomAD-4.0.0 1.59203E-06
8759 24 I/T 35 rs199918663 0.0709 None gnomAD-2.1.1 2.86E-05
8759 24 I/T 35 rs199918663 0.0709 None gnomAD-3.1.2 1.31E-05
8759 24 I/T 35 rs199918663 0.0709 None gnomAD-4.0.0 2.29343E-05
8759 24 I/V 35 rs1317485542 0.0709 None gnomAD-2.1.1 1.43E-05
8759 24 I/V 35 rs1317485542 0.0709 None gnomAD-3.1.2 1.31E-05
8759 24 I/V 35 rs1317485542 0.0709 None gnomAD-4.0.0 8.97144E-06
8760 25 E/K 38 rs2077161238 0.3516 None gnomAD-4.0.0 1.77937E-05
8761 26 G/S 40 rs369385294 0.3471 None gnomAD-2.1.1 5.37E-05
8761 26 G/S 40 rs369385294 0.3471 None gnomAD-3.1.2 5.26E-05
8761 26 G/S 40 rs369385294 0.3471 None gnomAD-4.0.0 1.41941E-04
8762 27 A/T 41 rs1336984327 0.5721 None gnomAD-2.1.1 4.03E-06
8762 27 A/T 41 rs1336984327 0.5721 None gnomAD-3.1.2 1.32E-05
8762 27 A/T 41 rs1336984327 0.5721 None gnomAD-4.0.0 9.29769E-06
8762 27 A/V 41 None 0.5721 None gnomAD-4.0.0 1.59196E-06
8763 28 E/A 42 rs1453342840 0.7787 None gnomAD-2.1.1 6.37E-05
8763 28 E/A 42 rs1453342840 0.7787 None gnomAD-3.1.2 1.97E-05
8763 28 E/A 42 rs1453342840 0.7787 None gnomAD-4.0.0 1.97174E-05
8764 29 P/S 43 None 0.6546 None gnomAD-4.0.0 2.7373E-06
8764 29 P/T 43 None 0.6546 None gnomAD-4.0.0 6.84326E-07
8765 30 I/T 44 rs768619883 0.1538 None gnomAD-2.1.1 2.02E-05
8765 30 I/T 44 rs768619883 0.1538 None gnomAD-3.1.2 6.57E-06
8765 30 I/T 44 rs768619883 0.1538 None gnomAD-4.0.0 1.28144E-05
8765 30 I/V 44 rs776531934 0.1538 None gnomAD-2.1.1 4.03E-06
8765 30 I/V 44 rs776531934 0.1538 None gnomAD-4.0.0 1.59174E-06
8766 31 S/L 45 rs1368458893 0.4642 None gnomAD-2.1.1 4.03E-06
8766 31 S/L 45 rs1368458893 0.4642 None gnomAD-4.0.0 1.5918E-06
8769 34 W/G 48 rs779847107 0.1228 None gnomAD-4.0.0 4.7901E-06
8770 35 F/S 49 None 0.1393 None gnomAD-4.0.0 1.59167E-06
8770 35 F/V 49 rs2077156183 0.1393 None gnomAD-3.1.2 6.57E-06
8770 35 F/V 49 rs2077156183 0.1393 None gnomAD-4.0.0 6.57324E-06
8771 36 K/R 50 None 0.2510 None gnomAD-4.0.0 1.59165E-06
8772 37 D/V 51 None 0.3957 None gnomAD-4.0.0 1.20033E-06
8772 37 D/Y 51 None 0.3957 None gnomAD-4.0.0 1.20033E-06
8773 38 K/N 52 None 0.7553 None gnomAD-4.0.0 3.42147E-06
8774 39 G/E 55 None 0.2739 None gnomAD-4.0.0 6.84279E-07
8775 40 E/A 56 rs758590305 0.4034 None gnomAD-2.1.1 4.03E-06
8775 40 E/A 56 rs758590305 0.4034 None gnomAD-4.0.0 1.59164E-06
8775 40 E/D 56 None 0.4034 None gnomAD-4.0.0 1.20033E-06
8776 41 I/L 57 rs746071731 0.1580 None gnomAD-2.1.1 4.03E-06
8776 41 I/L 57 rs746071731 0.1580 None gnomAD-4.0.0 1.59158E-06
8776 41 I/M 57 None 0.1580 None gnomAD-4.0.0 6.84287E-07
8776 41 I/V 57 rs746071731 0.1580 None gnomAD-2.1.1 8.07E-06
8776 41 I/V 57 rs746071731 0.1580 None gnomAD-3.1.2 6.57E-06
8776 41 I/V 57 rs746071731 0.1580 None gnomAD-4.0.0 5.1251E-06
8777 42 V/D 58 None 0.4917 None gnomAD-4.0.0 1.59157E-06
8777 42 V/F 58 rs376823283 0.4917 None gnomAD-2.1.1 8.07E-06
8777 42 V/F 58 rs376823283 0.4917 None gnomAD-4.0.0 2.73711E-06
8777 42 V/I 58 None 0.4917 None gnomAD-2.1.1 6.8E-05
8777 42 V/I 58 None 0.4917 None gnomAD-3.1.2 1.44585E-04
8777 42 V/I 58 None 0.4917 None gnomAD-4.0.0 1.19612E-04
8777 42 V/L 58 rs376823283 0.4917 None gnomAD-3.1.2 6.57E-06
8777 42 V/L 58 rs376823283 0.4917 None gnomAD-4.0.0 1.85925E-06
8778 43 R/K 59 rs1486145907 0.8228 None gnomAD-3.1.2 1.31E-05
8778 43 R/K 59 rs1486145907 0.8228 None gnomAD-4.0.0 8.05664E-06
8778 43 R/S 59 rs754011566 0.8228 None gnomAD-2.1.1 4.03E-06
8778 43 R/T 59 rs1486145907 0.8228 None gnomAD-2.1.1 4.03E-06
8778 43 R/T 59 rs1486145907 0.8228 None gnomAD-4.0.0 6.84268E-07
8780 45 S/G 73 None 0.2531 None gnomAD-4.0.0 2.40064E-06
8780 45 S/N 73 rs764652580 0.2531 None gnomAD-2.1.1 4.03E-06
8780 45 S/N 73 rs764652580 0.2531 None gnomAD-4.0.0 1.77904E-05
8780 45 S/R 73 rs756708089 0.2531 None gnomAD-2.1.1 4.03E-06
8780 45 S/R 73 rs756708089 0.2531 None gnomAD-4.0.0 1.59146E-06
8781 46 D/A 111 rs2077152071 0.6046 None gnomAD-3.1.2 6.57E-06
8781 46 D/A 111 rs2077152071 0.6046 None gnomAD-4.0.0 6.57168E-06
8781 46 D/N 111 None 0.6046 None gnomAD-4.0.0 6.00161E-06
8782 47 N/S 115 rs727504895 0.3130 None gnomAD-4.0.0 1.36848E-06
8782 47 N/Y 115 rs1017848590 0.3130 None gnomAD-3.1.2 1.31E-05
8782 47 N/Y 115 rs1017848590 0.3130 None gnomAD-4.0.0 9.29567E-06
8783 48 I/K 121 rs1226202295 0.0825 None gnomAD-3.1.2 6.57E-06
8783 48 I/K 121 rs1226202295 0.0825 None gnomAD-4.0.0 6.57082E-06
8783 48 I/L 121 None 0.0825 None gnomAD-4.0.0 6.84237E-07
8783 48 I/M 121 rs767996372 0.0825 None gnomAD-2.1.1 4.03E-06
8783 48 I/M 121 rs767996372 0.0825 None gnomAD-4.0.0 6.15819E-06
8783 48 I/T 121 rs1226202295 0.0825 None gnomAD-2.1.1 4.03E-06
8783 48 I/T 121 rs1226202295 0.0825 None gnomAD-4.0.0 1.36848E-06
8783 48 I/V 121 rs2077150875 0.0825 None gnomAD-4.0.0 4.78966E-06
8784 49 W/R 122 rs375067750 0.7364 None gnomAD-2.1.1 1.21E-05
8784 49 W/R 122 rs375067750 0.7364 None gnomAD-3.1.2 1.97E-05
8784 49 W/R 122 rs375067750 0.7364 None gnomAD-4.0.0 1.30137E-05
8785 50 I/F 123 rs2077149198 0.2581 None gnomAD-4.0.0 3.18283E-06
8786 51 S/A 125 None 0.3621 None gnomAD-4.0.0 1.20032E-06
8787 52 Y/C 127 rs1365431842 0.2777 None gnomAD-2.1.1 8.07E-06
8787 52 Y/C 127 rs1365431842 0.2777 None gnomAD-4.0.0 2.05272E-06
8787 52 Y/F 127 None 0.2777 None gnomAD-4.0.0 6.8424E-07
8790 55 N/D 134 rs772728050 0.5289 None gnomAD-2.1.1 2.15E-05
8790 55 N/D 134 rs772728050 0.5289 None gnomAD-3.1.2 6.57E-06
8790 55 N/D 134 rs772728050 0.5289 None gnomAD-4.0.0 2.47876E-06
8791 56 I/F 135 None 0.1420 None gnomAD-4.0.0 1.20032E-06
8792 57 A/E 136 rs761198294 0.0711 None gnomAD-2.1.1 4.03E-06
8792 57 A/E 136 rs761198294 0.0711 None gnomAD-3.1.2 2.63E-05
8792 57 A/E 136 rs761198294 0.0711 None gnomAD-4.0.0 4.33802E-06
8792 57 A/S 136 rs764989717 0.0711 None gnomAD-2.1.1 4.03E-06
8792 57 A/S 136 rs764989717 0.0711 None gnomAD-3.1.2 6.57E-06
8792 57 A/S 136 rs764989717 0.0711 None gnomAD-4.0.0 2.5623E-06
8793 58 T/A 137 rs776154251 0.2091 None gnomAD-2.1.1 5.37E-05
8793 58 T/A 137 rs776154251 0.2091 None gnomAD-3.1.2 1.97E-05
8793 58 T/A 137 rs776154251 0.2091 None gnomAD-4.0.0 1.54926E-05
8794 59 L/I 138 None 0.0562 None gnomAD-2.1.1 4.03E-06
8794 59 L/I 138 None 0.0562 None gnomAD-3.1.2 1.97E-05
8794 59 L/I 138 None 0.0562 None gnomAD-4.0.0 3.09861E-06
8794 59 L/V 138 rs372229450 0.0562 None gnomAD-2.1.1 2.5E-05
8794 59 L/V 138 rs372229450 0.0562 None gnomAD-3.1.2 1.97E-05
8794 59 L/V 138 rs372229450 0.0562 None 1000 genomes 1.99681E-04
8794 59 L/V 138 rs372229450 0.0562 None gnomAD-4.0.0 1.79706E-05
8795 60 Q/E 139 None 0.5322 None gnomAD-4.0.0 1.20032E-06
8795 60 Q/R 139 None 0.5322 None gnomAD-4.0.0 1.59134E-06
8796 61 F/C 140 None 0.1576 None gnomAD-4.0.0 3.42113E-06
8796 61 F/L 140 rs1193918191 0.1576 None gnomAD-2.1.1 4.03E-06
8796 61 F/L 140 rs1193918191 0.1576 None gnomAD-4.0.0 1.59133E-06
8797 62 S/A 141 None 0.2623 None gnomAD-4.0.0 1.20032E-06
8798 63 R/K 143 None 0.8256 None gnomAD-4.0.0 6.84225E-07
8798 63 R/T 143 rs771748059 0.8256 None gnomAD-2.1.1 3.22E-05
8798 63 R/T 143 rs771748059 0.8256 None gnomAD-3.1.2 6.57E-06
8798 63 R/T 143 rs771748059 0.8256 None gnomAD-4.0.0 3.03658E-05
8799 64 V/M 144 rs1560601919 0.1336 None gnomAD-4.0.0 6.15807E-06
8801 66 P/A 146 rs1220132171 0.5299 None gnomAD-2.1.1 4.03E-06
8801 66 P/A 146 rs1220132171 0.5299 None gnomAD-4.0.0 3.18267E-06
8801 66 P/L 146 rs778967914 0.5299 None gnomAD-2.1.1 8.05E-06
8801 66 P/L 146 rs778967914 0.5299 None gnomAD-4.0.0 4.10536E-06
8801 66 P/T 146 None 0.5299 None gnomAD-4.0.0 3.18267E-06
8802 67 A/D 148 rs1292226345 0.3668 None gnomAD-2.1.1 4.03E-06
8802 67 A/D 148 rs1292226345 0.3668 None gnomAD-4.0.0 1.59134E-06
8803 68 N/S 149 rs12693164 0.2328 None gnomAD-2.1.1 1.77519E-01
8803 68 N/S 149 rs12693164 0.2328 None gnomAD-3.1.2 1.68341E-01
8803 68 N/S 149 rs12693164 0.2328 None 1000 genomes 2.47005E-01
8803 68 N/S 149 rs12693164 0.2328 None gnomAD-4.0.0 1.64667E-01
8804 69 A/P 151 rs778012263 0.2411 None gnomAD-3.1.2 6.57E-06
8804 69 A/P 151 rs778012263 0.2411 None gnomAD-4.0.0 1.85913E-06
8804 69 A/S 151 rs778012263 0.2411 None gnomAD-2.1.1 4.03E-06
8805 70 G/R 152 rs756620595 0.1962 None gnomAD-2.1.1 4.03E-06
8805 70 G/R 152 rs756620595 0.1962 None gnomAD-4.0.0 1.59136E-06
8808 73 T/A 155 None 0.1269 None gnomAD-4.0.0 1.20033E-06
8809 74 C/R 156 rs753253530 0.0638 None gnomAD-2.1.1 4.02E-06
8810 75 Q/H 157 rs781752797 0.2519 None gnomAD-2.1.1 8.05E-06
8810 75 Q/H 157 rs781752797 0.2519 None gnomAD-4.0.0 9.57938E-06
8810 75 Q/L 157 rs934473433 0.2519 None gnomAD-2.1.1 4.02E-06
8810 75 Q/L 157 rs934473433 0.2519 None gnomAD-3.1.2 6.57E-06
8810 75 Q/L 157 rs934473433 0.2519 None gnomAD-4.0.0 5.12471E-06
8811 76 I/V 158 rs1346764958 0.0417 None gnomAD-2.1.1 4.02E-06
8811 76 I/V 158 rs1346764958 0.0417 None gnomAD-4.0.0 4.8013E-06
8813 78 N/S 161 rs2077136991 0.1610 None gnomAD-4.0.0 1.5916E-06
8814 79 D/N 162 rs1035364658 0.7902 None gnomAD-2.1.1 4.02E-06
8814 79 D/N 162 rs1035364658 0.7902 None gnomAD-4.0.0 1.59175E-06
8814 79 D/Y 162 rs1035364658 0.7902 None gnomAD-3.1.2 6.57E-06
8814 79 D/Y 162 rs1035364658 0.7902 None gnomAD-4.0.0 6.57315E-06
8815 80 A/G 163 rs1168744166 0.5762 None gnomAD-2.1.1 7.15E-06
8815 80 A/G 163 rs1168744166 0.5762 None gnomAD-3.1.2 1.31E-05
8815 80 A/G 163 rs1168744166 0.5762 None gnomAD-4.0.0 8.96895E-06
8815 80 A/V 163 rs1168744166 0.5762 None gnomAD-2.1.1 4.02E-06
8815 80 A/V 163 rs1168744166 0.5762 None gnomAD-4.0.0 3.18348E-06
8817 82 M/I 165 rs1427255919 0.5214 None gnomAD-2.1.1 8.05E-06
8817 82 M/I 165 rs1427255919 0.5214 None gnomAD-4.0.0 3.18436E-06
8817 82 M/T 165 rs1469529188 0.5214 None gnomAD-2.1.1 4.02E-06
8817 82 M/T 165 rs1469529188 0.5214 None gnomAD-4.0.0 9.58085E-06
8817 82 M/V 165 rs878856898 0.5214 None gnomAD-4.0.0 1.5918E-06
8818 83 Q/K 166 rs2077133872 0.3440 None gnomAD-3.1.2 6.58E-06
8818 83 Q/K 166 rs2077133872 0.3440 None gnomAD-4.0.0 2.56377E-06
8819 84 E/D 168 rs1242327696 0.2231 None gnomAD-2.1.1 1.91058E-04
8819 84 E/D 168 rs1242327696 0.2231 None gnomAD-3.1.2 4.6E-05
8819 84 E/D 168 rs1242327696 0.2231 None gnomAD-4.0.0 4.60109E-05
8819 84 E/K 168 rs1452521377 0.2231 None gnomAD-4.0.0 2.73754E-06
8820 85 C/G 169 rs1193461740 0.1057 None gnomAD-3.1.2 6.58E-06
8820 85 C/G 169 rs1193461740 0.1057 None gnomAD-4.0.0 6.57592E-06
8820 85 C/Y 169 rs778500616 0.1057 None gnomAD-2.1.1 4.02E-06
8820 85 C/Y 169 rs778500616 0.1057 None gnomAD-4.0.0 1.59325E-06
8822 87 A/S 172 None 0.1575 None gnomAD-4.0.0 2.73873E-06
8822 87 A/T 172 rs184883436 0.1575 None gnomAD-2.1.1 9.29E-05
8822 87 A/T 172 rs184883436 0.1575 None gnomAD-3.1.2 4.6E-05
8822 87 A/T 172 rs184883436 0.1575 None gnomAD-4.0.0 5.76658E-05
8822 87 A/V 172 rs753291479 0.1575 None gnomAD-2.1.1 4.02E-06
8822 87 A/V 172 rs753291479 0.1575 None gnomAD-4.0.0 1.57463E-05
8823 88 T/K 173 rs368151971 0.3539 None gnomAD-2.1.1 4.03E-06
8823 88 T/K 173 rs368151971 0.3539 None gnomAD-4.0.0 6.84809E-07
8823 88 T/M 173 rs368151971 0.3539 None gnomAD-2.1.1 2.01E-05
8823 88 T/M 173 rs368151971 0.3539 None gnomAD-3.1.2 5.92E-05
8823 88 T/M 173 rs368151971 0.3539 None 1000 genomes 1.99681E-04
8823 88 T/M 173 rs368151971 0.3539 None gnomAD-4.0.0 1.98452E-05
8823 88 T/R 173 None 0.3539 None gnomAD-4.0.0 6.84809E-07
8824 89 L/I 174 rs1322441627 0.2169 None gnomAD-2.1.1 3.19E-05
8824 89 L/I 174 rs1322441627 0.2169 None gnomAD-3.1.2 6.57E-06
8824 89 L/I 174 rs1322441627 0.2169 None gnomAD-4.0.0 6.57263E-06
8825 90 S/F 175 rs2077128629 0.3264 None gnomAD-4.0.0 1.59566E-06
8826 91 V/I 178 rs200116046 0.2751 None gnomAD-2.1.1 4.03E-06
8826 91 V/I 178 rs200116046 0.2751 None gnomAD-4.0.0 2.74088E-06