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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 I F R K K P H P I E T L K G A D V H L E C E L Q G T P P F H V S W Y K D K R E L R S G K K Y K I M S E N F L T S I H I L N V D A A D I G E Y Q C K A T N D V G S D T C V G S I A L K A P 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 -

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 0.1301 None gnomAD-3.1.2 6.57E-06
8736 1 P/S 1 rs777166872 0.1301 None gnomAD-3.1.2 6.57E-06
8736 1 P/S 1 rs777166872 0.1301 None gnomAD-4.0.0 1.2548E-06
8736 1 P/T 1 rs777166872 0.1301 None gnomAD-2.1.1 1.26E-05
8736 1 P/T 1 rs777166872 0.1301 None gnomAD-4.0.0 2.77438E-06
8737 2 R/K 2 rs769711887 0.5157 None gnomAD-2.1.1 4.19E-06
8737 2 R/K 2 rs769711887 0.5157 None gnomAD-4.0.0 6.9355E-07
8738 3 F/I 3 rs1335039200 0.1677 None gnomAD-2.1.1 1.24E-05
8738 3 F/I 3 rs1335039200 0.1677 None gnomAD-3.1.2 6.57E-06
8738 3 F/I 3 rs1335039200 0.1677 None gnomAD-4.0.0 1.12549E-05
8738 3 F/S 3 rs1304792247 0.1677 None gnomAD-4.0.0 1.62391E-06
8739 4 V/L 4 None 0.5136 None gnomAD-4.0.0 1.61987E-06
8741 6 K/E 7 rs538959125 0.7178 None gnomAD-2.1.1 1.78299E-04
8741 6 K/E 7 rs538959125 0.7178 None gnomAD-3.1.2 9.2E-05
8741 6 K/E 7 rs538959125 0.7178 None 1000 genomes 3.99361E-04
8741 6 K/E 7 rs538959125 0.7178 None gnomAD-4.0.0 3.2426E-05
8741 6 K/Q 7 None 0.7178 None gnomAD-4.0.0 6.89001E-07
8742 7 L/P 8 rs1302096327 0.2086 None gnomAD-2.1.1 4.07E-06
8742 7 L/P 8 rs1302096327 0.2086 None gnomAD-4.0.0 7.56262E-06
8743 8 S/G 9 rs997483780 0.6365 None gnomAD-4.0.0 4.12439E-06
8743 8 S/N 9 None 0.6365 None gnomAD-4.0.0 1.60822E-06
8744 9 D/G 11 rs189391840 0.6149 None gnomAD-2.1.1 2.03E-05
8744 9 D/G 11 rs189391840 0.6149 None gnomAD-3.1.2 2.63E-05
8744 9 D/G 11 rs189391840 0.6149 None 1000 genomes 5.99042E-04
8744 9 D/G 11 rs189391840 0.6149 None gnomAD-4.0.0 4.97728E-06
8745 10 I/M 13 rs2077168515 0.3163 None gnomAD-3.1.2 6.57E-06
8745 10 I/M 13 rs2077168515 0.3163 None gnomAD-4.0.0 6.5716E-06
8745 10 I/T 13 rs1176501015 0.3163 None gnomAD-2.1.1 4.04E-06
8745 10 I/T 13 rs1176501015 0.3163 None gnomAD-4.0.0 1.5968E-06
8745 10 I/V 13 rs901437058 0.3163 None gnomAD-3.1.2 1.31E-05
8745 10 I/V 13 rs901437058 0.3163 None gnomAD-4.0.0 1.31328E-05
8746 11 S/P 14 None 0.5655 None gnomAD-4.0.0 1.59661E-06
8748 13 V/A 18 rs1362528703 0.5374 None gnomAD-2.1.1 7.16E-06
8748 13 V/A 18 rs1362528703 0.5374 None gnomAD-3.1.2 6.58E-06
8748 13 V/A 18 rs1362528703 0.5374 None gnomAD-4.0.0 3.10035E-06
8748 13 V/I 18 rs1456259621 0.5374 None gnomAD-2.1.1 4.04E-06
8748 13 V/I 18 rs1456259621 0.5374 None gnomAD-3.1.2 6.57E-06
8748 13 V/I 18 rs1456259621 0.5374 None gnomAD-4.0.0 2.56537E-06
8748 13 V/L 18 None 0.5374 None gnomAD-4.0.0 1.5936E-06
8749 14 V/A 23 rs770874023 0.3954 None gnomAD-2.1.1 3.63E-05
8749 14 V/A 23 rs770874023 0.3954 None gnomAD-3.1.2 2.63E-05
8749 14 V/A 23 rs770874023 0.3954 None gnomAD-4.0.0 2.72796E-05
8749 14 V/I 23 rs16866457 0.3954 None gnomAD-2.1.1 5.20363E-03
8749 14 V/I 23 rs16866457 0.3954 None gnomAD-3.1.2 1.249E-02
8749 14 V/I 23 rs16866457 0.3954 None 1000 genomes 1.61741E-02
8749 14 V/I 23 rs16866457 0.3954 None gnomAD-4.0.0 3.01617E-03
8750 15 G/C 24 rs757423560 0.3108 None gnomAD-2.1.1 4.03E-06
8750 15 G/C 24 rs757423560 0.3108 None gnomAD-4.0.0 6.84531E-07
8750 15 G/S 24 None 0.3108 None gnomAD-4.0.0 6.84531E-07
8752 17 E/A 26 None 0.5059 None gnomAD-4.0.0 1.59258E-06
8752 17 E/K 26 None 0.5059 None gnomAD-4.0.0 6.84474E-07
8753 18 V/G 28 rs867579263 0.1860 None gnomAD-4.0.0 5.4756E-06
8753 18 V/I 28 rs373070956 0.1860 None gnomAD-2.1.1 4.03E-06
8753 18 V/I 28 rs373070956 0.1860 None gnomAD-3.1.2 6.57E-06
8753 18 V/I 28 rs373070956 0.1860 None gnomAD-4.0.0 6.57367E-06
8754 19 Q/H 29 rs764746720 0.4041 None gnomAD-2.1.1 4.03E-06
8754 19 Q/H 29 rs764746720 0.4041 None gnomAD-3.1.2 6.57E-06
8754 19 Q/H 29 rs764746720 0.4041 None gnomAD-4.0.0 5.57899E-06
8755 20 L/R 30 None 0.1561 None gnomAD-4.0.0 1.59232E-06
8756 21 Q/H 31 rs776025006 0.3941 None gnomAD-2.1.1 4.03E-06
8756 21 Q/H 31 rs776025006 0.3941 None gnomAD-4.0.0 1.5923E-06
8756 21 Q/R 31 rs761090454 0.3941 None gnomAD-2.1.1 4.03E-06
8757 22 T/A 33 None 0.1048 None gnomAD-4.0.0 1.20033E-06
8757 22 T/I 33 rs1357129552 0.1048 None gnomAD-4.0.0 6.84407E-07
8757 22 T/N 33 None 0.1048 None gnomAD-4.0.0 6.84407E-07
8757 22 T/S 33 None 0.1048 None gnomAD-4.0.0 6.84407E-07
8759 24 I/M 35 None 0.0996 None gnomAD-4.0.0 1.59203E-06
8759 24 I/T 35 rs199918663 0.0996 None gnomAD-2.1.1 2.86E-05
8759 24 I/T 35 rs199918663 0.0996 None gnomAD-3.1.2 1.31E-05
8759 24 I/T 35 rs199918663 0.0996 None gnomAD-4.0.0 2.29343E-05
8759 24 I/V 35 rs1317485542 0.0996 None gnomAD-2.1.1 1.43E-05
8759 24 I/V 35 rs1317485542 0.0996 None gnomAD-3.1.2 1.31E-05
8759 24 I/V 35 rs1317485542 0.0996 None gnomAD-4.0.0 8.97144E-06
8760 25 E/K 38 rs2077161238 0.5352 None gnomAD-4.0.0 1.77937E-05
8761 26 G/S 40 rs369385294 0.3219 None gnomAD-2.1.1 5.37E-05
8761 26 G/S 40 rs369385294 0.3219 None gnomAD-3.1.2 5.26E-05
8761 26 G/S 40 rs369385294 0.3219 None gnomAD-4.0.0 1.41941E-04
8762 27 A/T 41 rs1336984327 0.2251 None gnomAD-2.1.1 4.03E-06
8762 27 A/T 41 rs1336984327 0.2251 None gnomAD-3.1.2 1.32E-05
8762 27 A/T 41 rs1336984327 0.2251 None gnomAD-4.0.0 9.29769E-06
8762 27 A/V 41 None 0.2251 None gnomAD-4.0.0 1.59196E-06
8763 28 E/A 42 rs1453342840 0.4610 None gnomAD-2.1.1 6.37E-05
8763 28 E/A 42 rs1453342840 0.4610 None gnomAD-3.1.2 1.97E-05
8763 28 E/A 42 rs1453342840 0.4610 None gnomAD-4.0.0 1.97174E-05
8764 29 P/S 43 None 0.7750 None gnomAD-4.0.0 2.7373E-06
8764 29 P/T 43 None 0.7750 None gnomAD-4.0.0 6.84326E-07
8765 30 I/T 44 rs768619883 0.1264 None gnomAD-2.1.1 2.02E-05
8765 30 I/T 44 rs768619883 0.1264 None gnomAD-3.1.2 6.57E-06
8765 30 I/T 44 rs768619883 0.1264 None gnomAD-4.0.0 1.28144E-05
8765 30 I/V 44 rs776531934 0.1264 None gnomAD-2.1.1 4.03E-06
8765 30 I/V 44 rs776531934 0.1264 None gnomAD-4.0.0 1.59174E-06
8766 31 S/L 45 rs1368458893 0.3196 None gnomAD-2.1.1 4.03E-06
8766 31 S/L 45 rs1368458893 0.3196 None gnomAD-4.0.0 1.5918E-06
8769 34 W/G 48 rs779847107 0.1302 None gnomAD-4.0.0 4.7901E-06
8770 35 F/S 49 None 0.1741 None gnomAD-4.0.0 1.59167E-06
8770 35 F/V 49 rs2077156183 0.1741 None gnomAD-3.1.2 6.57E-06
8770 35 F/V 49 rs2077156183 0.1741 None gnomAD-4.0.0 6.57324E-06
8771 36 K/R 50 None 0.1637 None gnomAD-4.0.0 1.59165E-06
8772 37 D/V 51 None 0.4190 None gnomAD-4.0.0 1.20033E-06
8772 37 D/Y 51 None 0.4190 None gnomAD-4.0.0 1.20033E-06
8773 38 K/N 52 None 1.1489 None gnomAD-4.0.0 3.42147E-06
8774 39 G/E 55 None 0.3116 None gnomAD-4.0.0 6.84279E-07
8775 40 E/A 56 rs758590305 0.6302 None gnomAD-2.1.1 4.03E-06
8775 40 E/A 56 rs758590305 0.6302 None gnomAD-4.0.0 1.59164E-06
8775 40 E/D 56 None 0.6302 None gnomAD-4.0.0 1.20033E-06
8776 41 I/L 57 rs746071731 0.4122 None gnomAD-2.1.1 4.03E-06
8776 41 I/L 57 rs746071731 0.4122 None gnomAD-4.0.0 1.59158E-06
8776 41 I/M 57 None 0.4122 None gnomAD-4.0.0 6.84287E-07
8776 41 I/V 57 rs746071731 0.4122 None gnomAD-2.1.1 8.07E-06
8776 41 I/V 57 rs746071731 0.4122 None gnomAD-3.1.2 6.57E-06
8776 41 I/V 57 rs746071731 0.4122 None gnomAD-4.0.0 5.1251E-06
8777 42 V/D 58 None 0.1751 None gnomAD-4.0.0 1.59157E-06
8777 42 V/F 58 rs376823283 0.1751 None gnomAD-2.1.1 8.07E-06
8777 42 V/F 58 rs376823283 0.1751 None gnomAD-4.0.0 2.73711E-06
8777 42 V/I 58 None 0.1751 None gnomAD-2.1.1 6.8E-05
8777 42 V/I 58 None 0.1751 None gnomAD-3.1.2 1.44585E-04
8777 42 V/I 58 None 0.1751 None gnomAD-4.0.0 1.19612E-04
8777 42 V/L 58 rs376823283 0.1751 None gnomAD-3.1.2 6.57E-06
8777 42 V/L 58 rs376823283 0.1751 None gnomAD-4.0.0 1.85925E-06
8778 43 R/K 59 rs1486145907 0.7360 None gnomAD-3.1.2 1.31E-05
8778 43 R/K 59 rs1486145907 0.7360 None gnomAD-4.0.0 8.05664E-06
8778 43 R/S 59 rs754011566 0.7360 None gnomAD-2.1.1 4.03E-06
8778 43 R/T 59 rs1486145907 0.7360 None gnomAD-2.1.1 4.03E-06
8778 43 R/T 59 rs1486145907 0.7360 None gnomAD-4.0.0 6.84268E-07
8780 45 S/G 73 None 0.3151 None gnomAD-4.0.0 2.40064E-06
8780 45 S/N 73 rs764652580 0.3151 None gnomAD-2.1.1 4.03E-06
8780 45 S/N 73 rs764652580 0.3151 None gnomAD-4.0.0 1.77904E-05
8780 45 S/R 73 rs756708089 0.3151 None gnomAD-2.1.1 4.03E-06
8780 45 S/R 73 rs756708089 0.3151 None gnomAD-4.0.0 1.59146E-06
8781 46 D/A 111 rs2077152071 1.1775 None gnomAD-3.1.2 6.57E-06
8781 46 D/A 111 rs2077152071 1.1775 None gnomAD-4.0.0 6.57168E-06
8781 46 D/N 111 None 1.1775 None gnomAD-4.0.0 6.00161E-06
8782 47 N/S 115 rs727504895 0.2773 None gnomAD-4.0.0 1.36848E-06
8782 47 N/Y 115 rs1017848590 0.2773 None gnomAD-3.1.2 1.31E-05
8782 47 N/Y 115 rs1017848590 0.2773 None gnomAD-4.0.0 9.29567E-06
8783 48 I/K 121 rs1226202295 0.1844 None gnomAD-3.1.2 6.57E-06
8783 48 I/K 121 rs1226202295 0.1844 None gnomAD-4.0.0 6.57082E-06
8783 48 I/L 121 None 0.1844 None gnomAD-4.0.0 6.84237E-07
8783 48 I/M 121 rs767996372 0.1844 None gnomAD-2.1.1 4.03E-06
8783 48 I/M 121 rs767996372 0.1844 None gnomAD-4.0.0 6.15819E-06
8783 48 I/T 121 rs1226202295 0.1844 None gnomAD-2.1.1 4.03E-06
8783 48 I/T 121 rs1226202295 0.1844 None gnomAD-4.0.0 1.36848E-06
8783 48 I/V 121 rs2077150875 0.1844 None gnomAD-4.0.0 4.78966E-06
8784 49 W/R 122 rs375067750 0.6966 None gnomAD-2.1.1 1.21E-05
8784 49 W/R 122 rs375067750 0.6966 None gnomAD-3.1.2 1.97E-05
8784 49 W/R 122 rs375067750 0.6966 None gnomAD-4.0.0 1.30137E-05
8785 50 I/F 123 rs2077149198 0.1893 None gnomAD-4.0.0 3.18283E-06
8786 51 S/A 125 None 0.2981 None gnomAD-4.0.0 1.20032E-06
8787 52 Y/C 127 rs1365431842 0.3172 None gnomAD-2.1.1 8.07E-06
8787 52 Y/C 127 rs1365431842 0.3172 None gnomAD-4.0.0 2.05272E-06
8787 52 Y/F 127 None 0.3172 None gnomAD-4.0.0 6.8424E-07
8790 55 N/D 134 rs772728050 0.4873 None gnomAD-2.1.1 2.15E-05
8790 55 N/D 134 rs772728050 0.4873 None gnomAD-3.1.2 6.57E-06
8790 55 N/D 134 rs772728050 0.4873 None gnomAD-4.0.0 2.47876E-06
8791 56 I/F 135 None 0.3002 None gnomAD-4.0.0 1.20032E-06
8792 57 A/E 136 rs761198294 0.0956 None gnomAD-2.1.1 4.03E-06
8792 57 A/E 136 rs761198294 0.0956 None gnomAD-3.1.2 2.63E-05
8792 57 A/E 136 rs761198294 0.0956 None gnomAD-4.0.0 4.33802E-06
8792 57 A/S 136 rs764989717 0.0956 None gnomAD-2.1.1 4.03E-06
8792 57 A/S 136 rs764989717 0.0956 None gnomAD-3.1.2 6.57E-06
8792 57 A/S 136 rs764989717 0.0956 None gnomAD-4.0.0 2.5623E-06
8793 58 T/A 137 rs776154251 0.1660 None gnomAD-2.1.1 5.37E-05
8793 58 T/A 137 rs776154251 0.1660 None gnomAD-3.1.2 1.97E-05
8793 58 T/A 137 rs776154251 0.1660 None gnomAD-4.0.0 1.54926E-05
8794 59 L/I 138 None 0.0726 None gnomAD-2.1.1 4.03E-06
8794 59 L/I 138 None 0.0726 None gnomAD-3.1.2 1.97E-05
8794 59 L/I 138 None 0.0726 None gnomAD-4.0.0 3.09861E-06
8794 59 L/V 138 rs372229450 0.0726 None gnomAD-2.1.1 2.5E-05
8794 59 L/V 138 rs372229450 0.0726 None gnomAD-3.1.2 1.97E-05
8794 59 L/V 138 rs372229450 0.0726 None 1000 genomes 1.99681E-04
8794 59 L/V 138 rs372229450 0.0726 None gnomAD-4.0.0 1.79706E-05
8795 60 Q/E 139 None 0.2414 None gnomAD-4.0.0 1.20032E-06
8795 60 Q/R 139 None 0.2414 None gnomAD-4.0.0 1.59134E-06
8796 61 F/C 140 None 0.1156 None gnomAD-4.0.0 3.42113E-06
8796 61 F/L 140 rs1193918191 0.1156 None gnomAD-2.1.1 4.03E-06
8796 61 F/L 140 rs1193918191 0.1156 None gnomAD-4.0.0 1.59133E-06
8797 62 S/A 141 None 0.4101 None gnomAD-4.0.0 1.20032E-06
8798 63 R/K 143 None 0.7113 None gnomAD-4.0.0 6.84225E-07
8798 63 R/T 143 rs771748059 0.7113 None gnomAD-2.1.1 3.22E-05
8798 63 R/T 143 rs771748059 0.7113 None gnomAD-3.1.2 6.57E-06
8798 63 R/T 143 rs771748059 0.7113 None gnomAD-4.0.0 3.03658E-05
8799 64 V/M 144 rs1560601919 0.1083 None gnomAD-4.0.0 6.15807E-06
8801 66 P/A 146 rs1220132171 0.5431 None gnomAD-2.1.1 4.03E-06
8801 66 P/A 146 rs1220132171 0.5431 None gnomAD-4.0.0 3.18267E-06
8801 66 P/L 146 rs778967914 0.5431 None gnomAD-2.1.1 8.05E-06
8801 66 P/L 146 rs778967914 0.5431 None gnomAD-4.0.0 4.10536E-06
8801 66 P/T 146 None 0.5431 None gnomAD-4.0.0 3.18267E-06
8802 67 A/D 148 rs1292226345 0.4842 None gnomAD-2.1.1 4.03E-06
8802 67 A/D 148 rs1292226345 0.4842 None gnomAD-4.0.0 1.59134E-06
8803 68 N/S 149 rs12693164 0.2144 None gnomAD-2.1.1 1.77519E-01
8803 68 N/S 149 rs12693164 0.2144 None gnomAD-3.1.2 1.68341E-01
8803 68 N/S 149 rs12693164 0.2144 None 1000 genomes 2.47005E-01
8803 68 N/S 149 rs12693164 0.2144 None gnomAD-4.0.0 1.64667E-01
8804 69 A/P 151 rs778012263 0.2344 None gnomAD-3.1.2 6.57E-06
8804 69 A/P 151 rs778012263 0.2344 None gnomAD-4.0.0 1.85913E-06
8804 69 A/S 151 rs778012263 0.2344 None gnomAD-2.1.1 4.03E-06
8805 70 G/R 152 rs756620595 0.1770 None gnomAD-2.1.1 4.03E-06
8805 70 G/R 152 rs756620595 0.1770 None gnomAD-4.0.0 1.59136E-06
8808 73 T/A 155 None 0.1811 None gnomAD-4.0.0 1.20033E-06
8809 74 C/R 156 rs753253530 0.0664 None gnomAD-2.1.1 4.02E-06
8810 75 Q/H 157 rs781752797 0.1804 None gnomAD-2.1.1 8.05E-06
8810 75 Q/H 157 rs781752797 0.1804 None gnomAD-4.0.0 9.57938E-06
8810 75 Q/L 157 rs934473433 0.1804 None gnomAD-2.1.1 4.02E-06
8810 75 Q/L 157 rs934473433 0.1804 None gnomAD-3.1.2 6.57E-06
8810 75 Q/L 157 rs934473433 0.1804 None gnomAD-4.0.0 5.12471E-06
8811 76 I/V 158 rs1346764958 0.0642 None gnomAD-2.1.1 4.02E-06
8811 76 I/V 158 rs1346764958 0.0642 None gnomAD-4.0.0 4.8013E-06
8813 78 N/S 161 rs2077136991 0.1164 None gnomAD-4.0.0 1.5916E-06
8814 79 D/N 162 rs1035364658 0.5045 None gnomAD-2.1.1 4.02E-06
8814 79 D/N 162 rs1035364658 0.5045 None gnomAD-4.0.0 1.59175E-06
8814 79 D/Y 162 rs1035364658 0.5045 None gnomAD-3.1.2 6.57E-06
8814 79 D/Y 162 rs1035364658 0.5045 None gnomAD-4.0.0 6.57315E-06
8815 80 A/G 163 rs1168744166 0.2713 None gnomAD-2.1.1 7.15E-06
8815 80 A/G 163 rs1168744166 0.2713 None gnomAD-3.1.2 1.31E-05
8815 80 A/G 163 rs1168744166 0.2713 None gnomAD-4.0.0 8.96895E-06
8815 80 A/V 163 rs1168744166 0.2713 None gnomAD-2.1.1 4.02E-06
8815 80 A/V 163 rs1168744166 0.2713 None gnomAD-4.0.0 3.18348E-06
8817 82 M/I 165 rs1427255919 0.3211 None gnomAD-2.1.1 8.05E-06
8817 82 M/I 165 rs1427255919 0.3211 None gnomAD-4.0.0 3.18436E-06
8817 82 M/T 165 rs1469529188 0.3211 None gnomAD-2.1.1 4.02E-06
8817 82 M/T 165 rs1469529188 0.3211 None gnomAD-4.0.0 9.58085E-06
8817 82 M/V 165 rs878856898 0.3211 None gnomAD-4.0.0 1.5918E-06
8818 83 Q/K 166 rs2077133872 0.3911 None gnomAD-3.1.2 6.58E-06
8818 83 Q/K 166 rs2077133872 0.3911 None gnomAD-4.0.0 2.56377E-06
8819 84 E/D 168 rs1242327696 0.3874 None gnomAD-2.1.1 1.91058E-04
8819 84 E/D 168 rs1242327696 0.3874 None gnomAD-3.1.2 4.6E-05
8819 84 E/D 168 rs1242327696 0.3874 None gnomAD-4.0.0 4.60109E-05
8819 84 E/K 168 rs1452521377 0.3874 None gnomAD-4.0.0 2.73754E-06
8820 85 C/G 169 rs1193461740 0.1003 None gnomAD-3.1.2 6.58E-06
8820 85 C/G 169 rs1193461740 0.1003 None gnomAD-4.0.0 6.57592E-06
8820 85 C/Y 169 rs778500616 0.1003 None gnomAD-2.1.1 4.02E-06
8820 85 C/Y 169 rs778500616 0.1003 None gnomAD-4.0.0 1.59325E-06
8822 87 A/S 172 None 0.1136 None gnomAD-4.0.0 2.73873E-06
8822 87 A/T 172 rs184883436 0.1136 None gnomAD-2.1.1 9.29E-05
8822 87 A/T 172 rs184883436 0.1136 None gnomAD-3.1.2 4.6E-05
8822 87 A/T 172 rs184883436 0.1136 None gnomAD-4.0.0 5.76658E-05
8822 87 A/V 172 rs753291479 0.1136 None gnomAD-2.1.1 4.02E-06
8822 87 A/V 172 rs753291479 0.1136 None gnomAD-4.0.0 1.57463E-05
8823 88 T/K 173 rs368151971 0.3508 None gnomAD-2.1.1 4.03E-06
8823 88 T/K 173 rs368151971 0.3508 None gnomAD-4.0.0 6.84809E-07
8823 88 T/M 173 rs368151971 0.3508 None gnomAD-2.1.1 2.01E-05
8823 88 T/M 173 rs368151971 0.3508 None gnomAD-3.1.2 5.92E-05
8823 88 T/M 173 rs368151971 0.3508 None 1000 genomes 1.99681E-04
8823 88 T/M 173 rs368151971 0.3508 None gnomAD-4.0.0 1.98452E-05
8823 88 T/R 173 None 0.3508 None gnomAD-4.0.0 6.84809E-07
8824 89 L/I 174 rs1322441627 0.1238 None gnomAD-2.1.1 3.19E-05
8824 89 L/I 174 rs1322441627 0.1238 None gnomAD-3.1.2 6.57E-06
8824 89 L/I 174 rs1322441627 0.1238 None gnomAD-4.0.0 6.57263E-06
8825 90 S/F 175 rs2077128629 0.3474 None gnomAD-4.0.0 1.59566E-06
8826 91 V/I 178 rs200116046 0.2039 None gnomAD-2.1.1 4.03E-06
8826 91 V/I 178 rs200116046 0.2039 None gnomAD-4.0.0 2.74088E-06