Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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 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 0.1989 None gnomAD-3.1.2 6.57E-06
8736 1 P/S 1 rs777166872 0.1989 None gnomAD-3.1.2 6.57E-06
8736 1 P/S 1 rs777166872 0.1989 None gnomAD-4.0.0 1.2548E-06
8736 1 P/T 1 rs777166872 0.1989 None gnomAD-2.1.1 1.26E-05
8736 1 P/T 1 rs777166872 0.1989 None gnomAD-4.0.0 2.77438E-06
8737 2 R/K 2 rs769711887 0.3980 None gnomAD-2.1.1 4.19E-06
8737 2 R/K 2 rs769711887 0.3980 None gnomAD-4.0.0 6.9355E-07
8738 3 F/I 3 rs1335039200 0.1849 None gnomAD-2.1.1 1.24E-05
8738 3 F/I 3 rs1335039200 0.1849 None gnomAD-3.1.2 6.57E-06
8738 3 F/I 3 rs1335039200 0.1849 None gnomAD-4.0.0 1.12549E-05
8738 3 F/S 3 rs1304792247 0.1849 None gnomAD-4.0.0 1.62391E-06
8739 4 V/L 4 None 0.4932 None gnomAD-4.0.0 1.61987E-06
8741 6 K/E 7 rs538959125 0.7250 None gnomAD-2.1.1 1.78299E-04
8741 6 K/E 7 rs538959125 0.7250 None gnomAD-3.1.2 9.2E-05
8741 6 K/E 7 rs538959125 0.7250 None 1000 genomes 3.99361E-04
8741 6 K/E 7 rs538959125 0.7250 None gnomAD-4.0.0 3.2426E-05
8741 6 K/Q 7 None 0.7250 None gnomAD-4.0.0 6.89001E-07
8742 7 L/P 8 rs1302096327 0.2162 None gnomAD-2.1.1 4.07E-06
8742 7 L/P 8 rs1302096327 0.2162 None gnomAD-4.0.0 7.56262E-06
8743 8 S/G 9 rs997483780 0.6297 None gnomAD-4.0.0 4.12439E-06
8743 8 S/N 9 None 0.6297 None gnomAD-4.0.0 1.60822E-06
8744 9 D/G 11 rs189391840 0.6025 None gnomAD-2.1.1 2.03E-05
8744 9 D/G 11 rs189391840 0.6025 None gnomAD-3.1.2 2.63E-05
8744 9 D/G 11 rs189391840 0.6025 None 1000 genomes 5.99042E-04
8744 9 D/G 11 rs189391840 0.6025 None gnomAD-4.0.0 4.97728E-06
8745 10 I/M 13 rs2077168515 0.3016 None gnomAD-3.1.2 6.57E-06
8745 10 I/M 13 rs2077168515 0.3016 None gnomAD-4.0.0 6.5716E-06
8745 10 I/T 13 rs1176501015 0.3016 None gnomAD-2.1.1 4.04E-06
8745 10 I/T 13 rs1176501015 0.3016 None gnomAD-4.0.0 1.5968E-06
8745 10 I/V 13 rs901437058 0.3016 None gnomAD-3.1.2 1.31E-05
8745 10 I/V 13 rs901437058 0.3016 None gnomAD-4.0.0 1.31328E-05
8746 11 S/P 14 None 0.5431 None gnomAD-4.0.0 1.59661E-06
8748 13 V/A 18 rs1362528703 0.4448 None gnomAD-2.1.1 7.16E-06
8748 13 V/A 18 rs1362528703 0.4448 None gnomAD-3.1.2 6.58E-06
8748 13 V/A 18 rs1362528703 0.4448 None gnomAD-4.0.0 3.10035E-06
8748 13 V/I 18 rs1456259621 0.4448 None gnomAD-2.1.1 4.04E-06
8748 13 V/I 18 rs1456259621 0.4448 None gnomAD-3.1.2 6.57E-06
8748 13 V/I 18 rs1456259621 0.4448 None gnomAD-4.0.0 2.56537E-06
8748 13 V/L 18 None 0.4448 None gnomAD-4.0.0 1.5936E-06
8749 14 V/A 23 rs770874023 0.5072 None gnomAD-2.1.1 3.63E-05
8749 14 V/A 23 rs770874023 0.5072 None gnomAD-3.1.2 2.63E-05
8749 14 V/A 23 rs770874023 0.5072 None gnomAD-4.0.0 2.72796E-05
8749 14 V/I 23 rs16866457 0.5072 None gnomAD-2.1.1 5.20363E-03
8749 14 V/I 23 rs16866457 0.5072 None gnomAD-3.1.2 1.249E-02
8749 14 V/I 23 rs16866457 0.5072 None 1000 genomes 1.61741E-02
8749 14 V/I 23 rs16866457 0.5072 None gnomAD-4.0.0 3.01617E-03
8750 15 G/C 24 rs757423560 0.3417 None gnomAD-2.1.1 4.03E-06
8750 15 G/C 24 rs757423560 0.3417 None gnomAD-4.0.0 6.84531E-07
8750 15 G/S 24 None 0.3417 None gnomAD-4.0.0 6.84531E-07
8752 17 E/A 26 None 0.5107 None gnomAD-4.0.0 1.59258E-06
8752 17 E/K 26 None 0.5107 None gnomAD-4.0.0 6.84474E-07
8753 18 V/G 28 rs867579263 0.1797 None gnomAD-4.0.0 5.4756E-06
8753 18 V/I 28 rs373070956 0.1797 None gnomAD-2.1.1 4.03E-06
8753 18 V/I 28 rs373070956 0.1797 None gnomAD-3.1.2 6.57E-06
8753 18 V/I 28 rs373070956 0.1797 None gnomAD-4.0.0 6.57367E-06
8754 19 Q/H 29 rs764746720 0.4687 None gnomAD-2.1.1 4.03E-06
8754 19 Q/H 29 rs764746720 0.4687 None gnomAD-3.1.2 6.57E-06
8754 19 Q/H 29 rs764746720 0.4687 None gnomAD-4.0.0 5.57899E-06
8755 20 L/R 30 None 0.1567 None gnomAD-4.0.0 1.59232E-06
8756 21 Q/H 31 rs776025006 0.4300 None gnomAD-2.1.1 4.03E-06
8756 21 Q/H 31 rs776025006 0.4300 None gnomAD-4.0.0 1.5923E-06
8756 21 Q/R 31 rs761090454 0.4300 None gnomAD-2.1.1 4.03E-06
8757 22 T/A 33 None 0.1062 None gnomAD-4.0.0 1.20033E-06
8757 22 T/I 33 rs1357129552 0.1062 None gnomAD-4.0.0 6.84407E-07
8757 22 T/N 33 None 0.1062 None gnomAD-4.0.0 6.84407E-07
8757 22 T/S 33 None 0.1062 None gnomAD-4.0.0 6.84407E-07
8759 24 I/M 35 None 0.1110 None gnomAD-4.0.0 1.59203E-06
8759 24 I/T 35 rs199918663 0.1110 None gnomAD-2.1.1 2.86E-05
8759 24 I/T 35 rs199918663 0.1110 None gnomAD-3.1.2 1.31E-05
8759 24 I/T 35 rs199918663 0.1110 None gnomAD-4.0.0 2.29343E-05
8759 24 I/V 35 rs1317485542 0.1110 None gnomAD-2.1.1 1.43E-05
8759 24 I/V 35 rs1317485542 0.1110 None gnomAD-3.1.2 1.31E-05
8759 24 I/V 35 rs1317485542 0.1110 None gnomAD-4.0.0 8.97144E-06
8760 25 E/K 38 rs2077161238 0.3814 None gnomAD-4.0.0 1.77937E-05
8761 26 G/S 40 rs369385294 0.4749 None gnomAD-2.1.1 5.37E-05
8761 26 G/S 40 rs369385294 0.4749 None gnomAD-3.1.2 5.26E-05
8761 26 G/S 40 rs369385294 0.4749 None gnomAD-4.0.0 1.41941E-04
8762 27 A/T 41 rs1336984327 0.6282 None gnomAD-2.1.1 4.03E-06
8762 27 A/T 41 rs1336984327 0.6282 None gnomAD-3.1.2 1.32E-05
8762 27 A/T 41 rs1336984327 0.6282 None gnomAD-4.0.0 9.29769E-06
8762 27 A/V 41 None 0.6282 None gnomAD-4.0.0 1.59196E-06
8763 28 E/A 42 rs1453342840 0.4297 None gnomAD-2.1.1 6.37E-05
8763 28 E/A 42 rs1453342840 0.4297 None gnomAD-3.1.2 1.97E-05
8763 28 E/A 42 rs1453342840 0.4297 None gnomAD-4.0.0 1.97174E-05
8764 29 P/S 43 None 0.6898 None gnomAD-4.0.0 2.7373E-06
8764 29 P/T 43 None 0.6898 None gnomAD-4.0.0 6.84326E-07
8765 30 I/T 44 rs768619883 0.1354 None gnomAD-2.1.1 2.02E-05
8765 30 I/T 44 rs768619883 0.1354 None gnomAD-3.1.2 6.57E-06
8765 30 I/T 44 rs768619883 0.1354 None gnomAD-4.0.0 1.28144E-05
8765 30 I/V 44 rs776531934 0.1354 None gnomAD-2.1.1 4.03E-06
8765 30 I/V 44 rs776531934 0.1354 None gnomAD-4.0.0 1.59174E-06
8766 31 S/L 45 rs1368458893 0.4116 None gnomAD-2.1.1 4.03E-06
8766 31 S/L 45 rs1368458893 0.4116 None gnomAD-4.0.0 1.5918E-06
8769 34 W/G 48 rs779847107 0.1449 None gnomAD-4.0.0 4.7901E-06
8770 35 F/S 49 None 0.2178 None gnomAD-4.0.0 1.59167E-06
8770 35 F/V 49 rs2077156183 0.2178 None gnomAD-3.1.2 6.57E-06
8770 35 F/V 49 rs2077156183 0.2178 None gnomAD-4.0.0 6.57324E-06
8771 36 K/R 50 None 0.1545 None gnomAD-4.0.0 1.59165E-06
8772 37 D/V 51 None 0.4805 None gnomAD-4.0.0 1.20033E-06
8772 37 D/Y 51 None 0.4805 None gnomAD-4.0.0 1.20033E-06
8773 38 K/N 52 None 1.0385 None gnomAD-4.0.0 3.42147E-06
8774 39 G/E 55 None 0.4721 None gnomAD-4.0.0 6.84279E-07
8775 40 E/A 56 rs758590305 0.6770 None gnomAD-2.1.1 4.03E-06
8775 40 E/A 56 rs758590305 0.6770 None gnomAD-4.0.0 1.59164E-06
8775 40 E/D 56 None 0.6770 None gnomAD-4.0.0 1.20033E-06
8776 41 I/L 57 rs746071731 0.4136 None gnomAD-2.1.1 4.03E-06
8776 41 I/L 57 rs746071731 0.4136 None gnomAD-4.0.0 1.59158E-06
8776 41 I/M 57 None 0.4136 None gnomAD-4.0.0 6.84287E-07
8776 41 I/V 57 rs746071731 0.4136 None gnomAD-2.1.1 8.07E-06
8776 41 I/V 57 rs746071731 0.4136 None gnomAD-3.1.2 6.57E-06
8776 41 I/V 57 rs746071731 0.4136 None gnomAD-4.0.0 5.1251E-06
8777 42 V/D 58 None 0.1858 None gnomAD-4.0.0 1.59157E-06
8777 42 V/F 58 rs376823283 0.1858 None gnomAD-2.1.1 8.07E-06
8777 42 V/F 58 rs376823283 0.1858 None gnomAD-4.0.0 2.73711E-06
8777 42 V/I 58 None 0.1858 None gnomAD-2.1.1 6.8E-05
8777 42 V/I 58 None 0.1858 None gnomAD-3.1.2 1.44585E-04
8777 42 V/I 58 None 0.1858 None gnomAD-4.0.0 1.19612E-04
8777 42 V/L 58 rs376823283 0.1858 None gnomAD-3.1.2 6.57E-06
8777 42 V/L 58 rs376823283 0.1858 None gnomAD-4.0.0 1.85925E-06
8778 43 R/K 59 rs1486145907 0.6364 None gnomAD-3.1.2 1.31E-05
8778 43 R/K 59 rs1486145907 0.6364 None gnomAD-4.0.0 8.05664E-06
8778 43 R/S 59 rs754011566 0.6364 None gnomAD-2.1.1 4.03E-06
8778 43 R/T 59 rs1486145907 0.6364 None gnomAD-2.1.1 4.03E-06
8778 43 R/T 59 rs1486145907 0.6364 None gnomAD-4.0.0 6.84268E-07
8780 45 S/G 73 None 0.3128 None gnomAD-4.0.0 2.40064E-06
8780 45 S/N 73 rs764652580 0.3128 None gnomAD-2.1.1 4.03E-06
8780 45 S/N 73 rs764652580 0.3128 None gnomAD-4.0.0 1.77904E-05
8780 45 S/R 73 rs756708089 0.3128 None gnomAD-2.1.1 4.03E-06
8780 45 S/R 73 rs756708089 0.3128 None gnomAD-4.0.0 1.59146E-06
8781 46 D/A 111 rs2077152071 1.1994 None gnomAD-3.1.2 6.57E-06
8781 46 D/A 111 rs2077152071 1.1994 None gnomAD-4.0.0 6.57168E-06
8781 46 D/N 111 None 1.1994 None gnomAD-4.0.0 6.00161E-06
8782 47 N/S 115 rs727504895 0.2894 None gnomAD-4.0.0 1.36848E-06
8782 47 N/Y 115 rs1017848590 0.2894 None gnomAD-3.1.2 1.31E-05
8782 47 N/Y 115 rs1017848590 0.2894 None gnomAD-4.0.0 9.29567E-06
8783 48 I/K 121 rs1226202295 0.1909 None gnomAD-3.1.2 6.57E-06
8783 48 I/K 121 rs1226202295 0.1909 None gnomAD-4.0.0 6.57082E-06
8783 48 I/L 121 None 0.1909 None gnomAD-4.0.0 6.84237E-07
8783 48 I/M 121 rs767996372 0.1909 None gnomAD-2.1.1 4.03E-06
8783 48 I/M 121 rs767996372 0.1909 None gnomAD-4.0.0 6.15819E-06
8783 48 I/T 121 rs1226202295 0.1909 None gnomAD-2.1.1 4.03E-06
8783 48 I/T 121 rs1226202295 0.1909 None gnomAD-4.0.0 1.36848E-06
8783 48 I/V 121 rs2077150875 0.1909 None gnomAD-4.0.0 4.78966E-06
8784 49 W/R 122 rs375067750 0.7740 None gnomAD-2.1.1 1.21E-05
8784 49 W/R 122 rs375067750 0.7740 None gnomAD-3.1.2 1.97E-05
8784 49 W/R 122 rs375067750 0.7740 None gnomAD-4.0.0 1.30137E-05
8785 50 I/F 123 rs2077149198 0.2095 None gnomAD-4.0.0 3.18283E-06
8786 51 S/A 125 None 0.3360 None gnomAD-4.0.0 1.20032E-06
8787 52 Y/C 127 rs1365431842 0.3597 None gnomAD-2.1.1 8.07E-06
8787 52 Y/C 127 rs1365431842 0.3597 None gnomAD-4.0.0 2.05272E-06
8787 52 Y/F 127 None 0.3597 None gnomAD-4.0.0 6.8424E-07
8790 55 N/D 134 rs772728050 0.5479 None gnomAD-2.1.1 2.15E-05
8790 55 N/D 134 rs772728050 0.5479 None gnomAD-3.1.2 6.57E-06
8790 55 N/D 134 rs772728050 0.5479 None gnomAD-4.0.0 2.47876E-06
8791 56 I/F 135 None 0.3178 None gnomAD-4.0.0 1.20032E-06
8792 57 A/E 136 rs761198294 0.1031 None gnomAD-2.1.1 4.03E-06
8792 57 A/E 136 rs761198294 0.1031 None gnomAD-3.1.2 2.63E-05
8792 57 A/E 136 rs761198294 0.1031 None gnomAD-4.0.0 4.33802E-06
8792 57 A/S 136 rs764989717 0.1031 None gnomAD-2.1.1 4.03E-06
8792 57 A/S 136 rs764989717 0.1031 None gnomAD-3.1.2 6.57E-06
8792 57 A/S 136 rs764989717 0.1031 None gnomAD-4.0.0 2.5623E-06
8793 58 T/A 137 rs776154251 0.1899 None gnomAD-2.1.1 5.37E-05
8793 58 T/A 137 rs776154251 0.1899 None gnomAD-3.1.2 1.97E-05
8793 58 T/A 137 rs776154251 0.1899 None gnomAD-4.0.0 1.54926E-05
8794 59 L/I 138 None 0.0739 None gnomAD-2.1.1 4.03E-06
8794 59 L/I 138 None 0.0739 None gnomAD-3.1.2 1.97E-05
8794 59 L/I 138 None 0.0739 None gnomAD-4.0.0 3.09861E-06
8794 59 L/V 138 rs372229450 0.0739 None gnomAD-2.1.1 2.5E-05
8794 59 L/V 138 rs372229450 0.0739 None gnomAD-3.1.2 1.97E-05
8794 59 L/V 138 rs372229450 0.0739 None 1000 genomes 1.99681E-04
8794 59 L/V 138 rs372229450 0.0739 None gnomAD-4.0.0 1.79706E-05
8795 60 Q/E 139 None 0.2962 None gnomAD-4.0.0 1.20032E-06
8795 60 Q/R 139 None 0.2962 None gnomAD-4.0.0 1.59134E-06
8796 61 F/C 140 None 0.1231 None gnomAD-4.0.0 3.42113E-06
8796 61 F/L 140 rs1193918191 0.1231 None gnomAD-2.1.1 4.03E-06
8796 61 F/L 140 rs1193918191 0.1231 None gnomAD-4.0.0 1.59133E-06
8797 62 S/A 141 None 0.3823 None gnomAD-4.0.0 1.20032E-06
8798 63 R/K 143 None 0.7198 None gnomAD-4.0.0 6.84225E-07
8798 63 R/T 143 rs771748059 0.7198 None gnomAD-2.1.1 3.22E-05
8798 63 R/T 143 rs771748059 0.7198 None gnomAD-3.1.2 6.57E-06
8798 63 R/T 143 rs771748059 0.7198 None gnomAD-4.0.0 3.03658E-05
8799 64 V/M 144 rs1560601919 0.1061 None gnomAD-4.0.0 6.15807E-06
8801 66 P/A 146 rs1220132171 0.5871 None gnomAD-2.1.1 4.03E-06
8801 66 P/A 146 rs1220132171 0.5871 None gnomAD-4.0.0 3.18267E-06
8801 66 P/L 146 rs778967914 0.5871 None gnomAD-2.1.1 8.05E-06
8801 66 P/L 146 rs778967914 0.5871 None gnomAD-4.0.0 4.10536E-06
8801 66 P/T 146 None 0.5871 None gnomAD-4.0.0 3.18267E-06
8802 67 A/D 148 rs1292226345 0.5041 None gnomAD-2.1.1 4.03E-06
8802 67 A/D 148 rs1292226345 0.5041 None gnomAD-4.0.0 1.59134E-06
8803 68 N/S 149 rs12693164 0.2142 None gnomAD-2.1.1 1.77519E-01
8803 68 N/S 149 rs12693164 0.2142 None gnomAD-3.1.2 1.68341E-01
8803 68 N/S 149 rs12693164 0.2142 None 1000 genomes 2.47005E-01
8803 68 N/S 149 rs12693164 0.2142 None gnomAD-4.0.0 1.64667E-01
8804 69 A/P 151 rs778012263 0.2667 None gnomAD-3.1.2 6.57E-06
8804 69 A/P 151 rs778012263 0.2667 None gnomAD-4.0.0 1.85913E-06
8804 69 A/S 151 rs778012263 0.2667 None gnomAD-2.1.1 4.03E-06
8805 70 G/R 152 rs756620595 0.1938 None gnomAD-2.1.1 4.03E-06
8805 70 G/R 152 rs756620595 0.1938 None gnomAD-4.0.0 1.59136E-06
8808 73 T/A 155 None 0.1908 None gnomAD-4.0.0 1.20033E-06
8809 74 C/R 156 rs753253530 0.0747 None gnomAD-2.1.1 4.02E-06
8810 75 Q/H 157 rs781752797 0.2262 None gnomAD-2.1.1 8.05E-06
8810 75 Q/H 157 rs781752797 0.2262 None gnomAD-4.0.0 9.57938E-06
8810 75 Q/L 157 rs934473433 0.2262 None gnomAD-2.1.1 4.02E-06
8810 75 Q/L 157 rs934473433 0.2262 None gnomAD-3.1.2 6.57E-06
8810 75 Q/L 157 rs934473433 0.2262 None gnomAD-4.0.0 5.12471E-06
8811 76 I/V 158 rs1346764958 0.0680 None gnomAD-2.1.1 4.02E-06
8811 76 I/V 158 rs1346764958 0.0680 None gnomAD-4.0.0 4.8013E-06
8813 78 N/S 161 rs2077136991 0.1949 None gnomAD-4.0.0 1.5916E-06
8814 79 D/N 162 rs1035364658 1.0982 None gnomAD-2.1.1 4.02E-06
8814 79 D/N 162 rs1035364658 1.0982 None gnomAD-4.0.0 1.59175E-06
8814 79 D/Y 162 rs1035364658 1.0982 None gnomAD-3.1.2 6.57E-06
8814 79 D/Y 162 rs1035364658 1.0982 None gnomAD-4.0.0 6.57315E-06
8815 80 A/G 163 rs1168744166 0.7515 None gnomAD-2.1.1 7.15E-06
8815 80 A/G 163 rs1168744166 0.7515 None gnomAD-3.1.2 1.31E-05
8815 80 A/G 163 rs1168744166 0.7515 None gnomAD-4.0.0 8.96895E-06
8815 80 A/V 163 rs1168744166 0.7515 None gnomAD-2.1.1 4.02E-06
8815 80 A/V 163 rs1168744166 0.7515 None gnomAD-4.0.0 3.18348E-06
8817 82 M/I 165 rs1427255919 0.4802 None gnomAD-2.1.1 8.05E-06
8817 82 M/I 165 rs1427255919 0.4802 None gnomAD-4.0.0 3.18436E-06
8817 82 M/T 165 rs1469529188 0.4802 None gnomAD-2.1.1 4.02E-06
8817 82 M/T 165 rs1469529188 0.4802 None gnomAD-4.0.0 9.58085E-06
8817 82 M/V 165 rs878856898 0.4802 None gnomAD-4.0.0 1.5918E-06
8818 83 Q/K 166 rs2077133872 0.4286 None gnomAD-3.1.2 6.58E-06
8818 83 Q/K 166 rs2077133872 0.4286 None gnomAD-4.0.0 2.56377E-06
8819 84 E/D 168 rs1242327696 0.4819 None gnomAD-2.1.1 1.91058E-04
8819 84 E/D 168 rs1242327696 0.4819 None gnomAD-3.1.2 4.6E-05
8819 84 E/D 168 rs1242327696 0.4819 None gnomAD-4.0.0 4.60109E-05
8819 84 E/K 168 rs1452521377 0.4819 None gnomAD-4.0.0 2.73754E-06
8820 85 C/G 169 rs1193461740 0.1063 None gnomAD-3.1.2 6.58E-06
8820 85 C/G 169 rs1193461740 0.1063 None gnomAD-4.0.0 6.57592E-06
8820 85 C/Y 169 rs778500616 0.1063 None gnomAD-2.1.1 4.02E-06
8820 85 C/Y 169 rs778500616 0.1063 None gnomAD-4.0.0 1.59325E-06
8822 87 A/S 172 None 0.1154 None gnomAD-4.0.0 2.73873E-06
8822 87 A/T 172 rs184883436 0.1154 None gnomAD-2.1.1 9.29E-05
8822 87 A/T 172 rs184883436 0.1154 None gnomAD-3.1.2 4.6E-05
8822 87 A/T 172 rs184883436 0.1154 None gnomAD-4.0.0 5.76658E-05
8822 87 A/V 172 rs753291479 0.1154 None gnomAD-2.1.1 4.02E-06
8822 87 A/V 172 rs753291479 0.1154 None gnomAD-4.0.0 1.57463E-05
8823 88 T/K 173 rs368151971 0.3426 None gnomAD-2.1.1 4.03E-06
8823 88 T/K 173 rs368151971 0.3426 None gnomAD-4.0.0 6.84809E-07
8823 88 T/M 173 rs368151971 0.3426 None gnomAD-2.1.1 2.01E-05
8823 88 T/M 173 rs368151971 0.3426 None gnomAD-3.1.2 5.92E-05
8823 88 T/M 173 rs368151971 0.3426 None 1000 genomes 1.99681E-04
8823 88 T/M 173 rs368151971 0.3426 None gnomAD-4.0.0 1.98452E-05
8823 88 T/R 173 None 0.3426 None gnomAD-4.0.0 6.84809E-07
8824 89 L/I 174 rs1322441627 0.1290 None gnomAD-2.1.1 3.19E-05
8824 89 L/I 174 rs1322441627 0.1290 None gnomAD-3.1.2 6.57E-06
8824 89 L/I 174 rs1322441627 0.1290 None gnomAD-4.0.0 6.57263E-06
8825 90 S/F 175 rs2077128629 0.3432 None gnomAD-4.0.0 1.59566E-06
8826 91 V/I 178 rs200116046 0.2366 None gnomAD-2.1.1 4.03E-06
8826 91 V/I 178 rs200116046 0.2366 None gnomAD-4.0.0 2.74088E-06