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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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8736 1 P/L 1 rs1444367941 0.1346 None gnomAD-3.1.2 6.57E-06
8736 1 P/S 1 rs777166872 0.1346 None gnomAD-3.1.2 6.57E-06
8736 1 P/S 1 rs777166872 0.1346 None gnomAD-4.0.0 1.2548E-06
8736 1 P/T 1 rs777166872 0.1346 None gnomAD-2.1.1 1.26E-05
8736 1 P/T 1 rs777166872 0.1346 None gnomAD-4.0.0 2.77438E-06
8737 2 R/K 2 rs769711887 0.3866 None gnomAD-2.1.1 4.19E-06
8737 2 R/K 2 rs769711887 0.3866 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 0.3187 None gnomAD-4.0.0 1.77937E-05
8761 26 G/S 40 rs369385294 0.3167 None gnomAD-2.1.1 5.37E-05
8761 26 G/S 40 rs369385294 0.3167 None gnomAD-3.1.2 5.26E-05
8761 26 G/S 40 rs369385294 0.3167 None gnomAD-4.0.0 1.41941E-04
8762 27 A/T 41 rs1336984327 0.1926 None gnomAD-2.1.1 4.03E-06
8762 27 A/T 41 rs1336984327 0.1926 None gnomAD-3.1.2 1.32E-05
8762 27 A/T 41 rs1336984327 0.1926 None gnomAD-4.0.0 9.29769E-06
8762 27 A/V 41 None 0.1926 None gnomAD-4.0.0 1.59196E-06
8763 28 E/A 42 rs1453342840 0.4124 None gnomAD-2.1.1 6.37E-05
8763 28 E/A 42 rs1453342840 0.4124 None gnomAD-3.1.2 1.97E-05
8763 28 E/A 42 rs1453342840 0.4124 None gnomAD-4.0.0 1.97174E-05
8764 29 P/S 43 None 0.7588 None gnomAD-4.0.0 2.7373E-06
8764 29 P/T 43 None 0.7588 None gnomAD-4.0.0 6.84326E-07
8765 30 I/T 44 rs768619883 0.1173 None gnomAD-2.1.1 2.02E-05
8765 30 I/T 44 rs768619883 0.1173 None gnomAD-3.1.2 6.57E-06
8765 30 I/T 44 rs768619883 0.1173 None gnomAD-4.0.0 1.28144E-05
8765 30 I/V 44 rs776531934 0.1173 None gnomAD-2.1.1 4.03E-06
8765 30 I/V 44 rs776531934 0.1173 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 0.1347 None gnomAD-4.0.0 1.5916E-06
8814 79 D/N 162 rs1035364658 0.5010 None gnomAD-2.1.1 4.02E-06
8814 79 D/N 162 rs1035364658 0.5010 None gnomAD-4.0.0 1.59175E-06
8814 79 D/Y 162 rs1035364658 0.5010 None gnomAD-3.1.2 6.57E-06
8814 79 D/Y 162 rs1035364658 0.5010 None gnomAD-4.0.0 6.57315E-06
8815 80 A/G 163 rs1168744166 0.2864 None gnomAD-2.1.1 7.15E-06
8815 80 A/G 163 rs1168744166 0.2864 None gnomAD-3.1.2 1.31E-05
8815 80 A/G 163 rs1168744166 0.2864 None gnomAD-4.0.0 8.96895E-06
8815 80 A/V 163 rs1168744166 0.2864 None gnomAD-2.1.1 4.02E-06
8815 80 A/V 163 rs1168744166 0.2864 None gnomAD-4.0.0 3.18348E-06
8817 82 M/I 165 rs1427255919 0.4486 None gnomAD-2.1.1 8.05E-06
8817 82 M/I 165 rs1427255919 0.4486 None gnomAD-4.0.0 3.18436E-06
8817 82 M/T 165 rs1469529188 0.4486 None gnomAD-2.1.1 4.02E-06
8817 82 M/T 165 rs1469529188 0.4486 None gnomAD-4.0.0 9.58085E-06
8817 82 M/V 165 rs878856898 0.4486 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