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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
A M E P P Y F I E P L E H V E A A I G E P I T L Q C K V D G T P E I R I A W Y K E H T K L R S A P A Y K M Q F K N N V A S L V I N K V D H S D V G E Y T C K A E N S V G A V A S S A V L V I K E R K L P P S F A R K L K D V H E T L G F P V A F E C R I N G S E P L Q V S W Y K D G E L L K D D A N L Q T S F I H N V A T L Q I L Q T D Q S H V G Q Y N C S A S N P L G T A S S S A K L T L S E H E V P P F F D L K P V S V D L A L G E S G T F K C H V T G T A P I K I T W A K D N R E I R P G G N Y K M T L V E N T A T L T V L K V T K G D A G Q Y T C Y A S N V A G K D S C S A Q L G V Q E P P R F I K K L E P S R I V K Q D E H T R Y E C K I G G S P E I K V L W Y K D E T E I Q E S S K F R M S F V E S V A V L E M Y N L S V E D S G D Y T C E A H N A A G S A S S S T S L K V K E P P V F R K K P H P V E T L K G A D V H L E C E L Q G T P P F Q V S W H 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 S A D I G E Y Q C K A S N D V G S D T C V G S I T L K A P P R F V K K L S D I S T V V G E E V Q L Q A T I E G A E P I S V A 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 A E P A N A G K Y T C Q I K N E A G T Q E C F A T L S V L E
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 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 0.1293 None gnomAD-3.1.2 6.57E-06
8736 1 P/S 1 rs777166872 0.1293 None gnomAD-3.1.2 6.57E-06
8736 1 P/S 1 rs777166872 0.1293 None gnomAD-4.0.0 1.2548E-06
8736 1 P/T 1 rs777166872 0.1293 None gnomAD-2.1.1 1.26E-05
8736 1 P/T 1 rs777166872 0.1293 None gnomAD-4.0.0 2.77438E-06
8737 2 R/K 2 rs769711887 0.6578 None gnomAD-2.1.1 4.19E-06
8737 2 R/K 2 rs769711887 0.6578 None gnomAD-4.0.0 6.9355E-07
8738 3 F/I 3 rs1335039200 0.1653 None gnomAD-2.1.1 1.24E-05
8738 3 F/I 3 rs1335039200 0.1653 None gnomAD-3.1.2 6.57E-06
8738 3 F/I 3 rs1335039200 0.1653 None gnomAD-4.0.0 1.12549E-05
8738 3 F/S 3 rs1304792247 0.1653 None gnomAD-4.0.0 1.62391E-06
8739 4 V/L 4 None 0.3910 None gnomAD-4.0.0 1.61987E-06
8741 6 K/E 7 rs538959125 0.6411 None gnomAD-2.1.1 1.78299E-04
8741 6 K/E 7 rs538959125 0.6411 None gnomAD-3.1.2 9.2E-05
8741 6 K/E 7 rs538959125 0.6411 None 1000 genomes 3.99361E-04
8741 6 K/E 7 rs538959125 0.6411 None gnomAD-4.0.0 3.2426E-05
8741 6 K/Q 7 None 0.6411 None gnomAD-4.0.0 6.89001E-07
8742 7 L/P 8 rs1302096327 0.1752 None gnomAD-2.1.1 4.07E-06
8742 7 L/P 8 rs1302096327 0.1752 None gnomAD-4.0.0 7.56262E-06
8743 8 S/G 9 rs997483780 0.6614 None gnomAD-4.0.0 4.12439E-06
8743 8 S/N 9 None 0.6614 None gnomAD-4.0.0 1.60822E-06
8744 9 D/G 11 rs189391840 0.6929 None gnomAD-2.1.1 2.03E-05
8744 9 D/G 11 rs189391840 0.6929 None gnomAD-3.1.2 2.63E-05
8744 9 D/G 11 rs189391840 0.6929 None 1000 genomes 5.99042E-04
8744 9 D/G 11 rs189391840 0.6929 None gnomAD-4.0.0 4.97728E-06
8745 10 I/M 13 rs2077168515 0.2462 None gnomAD-3.1.2 6.57E-06
8745 10 I/M 13 rs2077168515 0.2462 None gnomAD-4.0.0 6.5716E-06
8745 10 I/T 13 rs1176501015 0.2462 None gnomAD-2.1.1 4.04E-06
8745 10 I/T 13 rs1176501015 0.2462 None gnomAD-4.0.0 1.5968E-06
8745 10 I/V 13 rs901437058 0.2462 None gnomAD-3.1.2 1.31E-05
8745 10 I/V 13 rs901437058 0.2462 None gnomAD-4.0.0 1.31328E-05
8746 11 S/P 14 None 0.4571 None gnomAD-4.0.0 1.59661E-06
8748 13 V/A 18 rs1362528703 0.6544 None gnomAD-2.1.1 7.16E-06
8748 13 V/A 18 rs1362528703 0.6544 None gnomAD-3.1.2 6.58E-06
8748 13 V/A 18 rs1362528703 0.6544 None gnomAD-4.0.0 3.10035E-06
8748 13 V/I 18 rs1456259621 0.6544 None gnomAD-2.1.1 4.04E-06
8748 13 V/I 18 rs1456259621 0.6544 None gnomAD-3.1.2 6.57E-06
8748 13 V/I 18 rs1456259621 0.6544 None gnomAD-4.0.0 2.56537E-06
8748 13 V/L 18 None 0.6544 None gnomAD-4.0.0 1.5936E-06
8749 14 V/A 23 rs770874023 0.3566 None gnomAD-2.1.1 3.63E-05
8749 14 V/A 23 rs770874023 0.3566 None gnomAD-3.1.2 2.63E-05
8749 14 V/A 23 rs770874023 0.3566 None gnomAD-4.0.0 2.72796E-05
8749 14 V/I 23 rs16866457 0.3566 None gnomAD-2.1.1 5.20363E-03
8749 14 V/I 23 rs16866457 0.3566 None gnomAD-3.1.2 1.249E-02
8749 14 V/I 23 rs16866457 0.3566 None 1000 genomes 1.61741E-02
8749 14 V/I 23 rs16866457 0.3566 None gnomAD-4.0.0 3.01617E-03
8750 15 G/C 24 rs757423560 0.2824 None gnomAD-2.1.1 4.03E-06
8750 15 G/C 24 rs757423560 0.2824 None gnomAD-4.0.0 6.84531E-07
8750 15 G/S 24 None 0.2824 None gnomAD-4.0.0 6.84531E-07
8752 17 E/A 26 None 0.6525 None gnomAD-4.0.0 1.59258E-06
8752 17 E/K 26 None 0.6525 None gnomAD-4.0.0 6.84474E-07
8753 18 V/G 28 rs867579263 0.1519 None gnomAD-4.0.0 5.4756E-06
8753 18 V/I 28 rs373070956 0.1519 None gnomAD-2.1.1 4.03E-06
8753 18 V/I 28 rs373070956 0.1519 None gnomAD-3.1.2 6.57E-06
8753 18 V/I 28 rs373070956 0.1519 None gnomAD-4.0.0 6.57367E-06
8754 19 Q/H 29 rs764746720 0.4507 None gnomAD-2.1.1 4.03E-06
8754 19 Q/H 29 rs764746720 0.4507 None gnomAD-3.1.2 6.57E-06
8754 19 Q/H 29 rs764746720 0.4507 None gnomAD-4.0.0 5.57899E-06
8755 20 L/R 30 None 0.1266 None gnomAD-4.0.0 1.59232E-06
8756 21 Q/H 31 rs776025006 0.3452 None gnomAD-2.1.1 4.03E-06
8756 21 Q/H 31 rs776025006 0.3452 None gnomAD-4.0.0 1.5923E-06
8756 21 Q/R 31 rs761090454 0.3452 None gnomAD-2.1.1 4.03E-06
8757 22 T/A 33 None 0.1049 None gnomAD-4.0.0 1.20033E-06
8757 22 T/I 33 rs1357129552 0.1049 None gnomAD-4.0.0 6.84407E-07
8757 22 T/N 33 None 0.1049 None gnomAD-4.0.0 6.84407E-07
8757 22 T/S 33 None 0.1049 None gnomAD-4.0.0 6.84407E-07
8759 24 I/M 35 None 0.1054 None gnomAD-4.0.0 1.59203E-06
8759 24 I/T 35 rs199918663 0.1054 None gnomAD-2.1.1 2.86E-05
8759 24 I/T 35 rs199918663 0.1054 None gnomAD-3.1.2 1.31E-05
8759 24 I/T 35 rs199918663 0.1054 None gnomAD-4.0.0 2.29343E-05
8759 24 I/V 35 rs1317485542 0.1054 None gnomAD-2.1.1 1.43E-05
8759 24 I/V 35 rs1317485542 0.1054 None gnomAD-3.1.2 1.31E-05
8759 24 I/V 35 rs1317485542 0.1054 None gnomAD-4.0.0 8.97144E-06
8760 25 E/K 38 rs2077161238 0.5667 None gnomAD-4.0.0 1.77937E-05
8761 26 G/S 40 rs369385294 0.3398 None gnomAD-2.1.1 5.37E-05
8761 26 G/S 40 rs369385294 0.3398 None gnomAD-3.1.2 5.26E-05
8761 26 G/S 40 rs369385294 0.3398 None gnomAD-4.0.0 1.41941E-04
8762 27 A/T 41 rs1336984327 0.1664 None gnomAD-2.1.1 4.03E-06
8762 27 A/T 41 rs1336984327 0.1664 None gnomAD-3.1.2 1.32E-05
8762 27 A/T 41 rs1336984327 0.1664 None gnomAD-4.0.0 9.29769E-06
8762 27 A/V 41 None 0.1664 None gnomAD-4.0.0 1.59196E-06
8763 28 E/A 42 rs1453342840 0.8283 None gnomAD-2.1.1 6.37E-05
8763 28 E/A 42 rs1453342840 0.8283 None gnomAD-3.1.2 1.97E-05
8763 28 E/A 42 rs1453342840 0.8283 None gnomAD-4.0.0 1.97174E-05
8764 29 P/S 43 None 0.4678 None gnomAD-4.0.0 2.7373E-06
8764 29 P/T 43 None 0.4678 None gnomAD-4.0.0 6.84326E-07
8765 30 I/T 44 rs768619883 0.2329 None gnomAD-2.1.1 2.02E-05
8765 30 I/T 44 rs768619883 0.2329 None gnomAD-3.1.2 6.57E-06
8765 30 I/T 44 rs768619883 0.2329 None gnomAD-4.0.0 1.28144E-05
8765 30 I/V 44 rs776531934 0.2329 None gnomAD-2.1.1 4.03E-06
8765 30 I/V 44 rs776531934 0.2329 None gnomAD-4.0.0 1.59174E-06
8766 31 S/L 45 rs1368458893 0.5708 None gnomAD-2.1.1 4.03E-06
8766 31 S/L 45 rs1368458893 0.5708 None gnomAD-4.0.0 1.5918E-06
8769 34 W/G 48 rs779847107 0.1677 None gnomAD-4.0.0 4.7901E-06
8770 35 F/S 49 None 0.2792 None gnomAD-4.0.0 1.59167E-06
8770 35 F/V 49 rs2077156183 0.2792 None gnomAD-3.1.2 6.57E-06
8770 35 F/V 49 rs2077156183 0.2792 None gnomAD-4.0.0 6.57324E-06
8771 36 K/R 50 None 0.1502 None gnomAD-4.0.0 1.59165E-06
8772 37 D/V 51 None 0.5981 None gnomAD-4.0.0 1.20033E-06
8772 37 D/Y 51 None 0.5981 None gnomAD-4.0.0 1.20033E-06
8773 38 K/N 52 None 0.9622 None gnomAD-4.0.0 3.42147E-06
8774 39 G/E 55 None 0.2256 None gnomAD-4.0.0 6.84279E-07
8775 40 E/A 56 rs758590305 0.6148 None gnomAD-2.1.1 4.03E-06
8775 40 E/A 56 rs758590305 0.6148 None gnomAD-4.0.0 1.59164E-06
8775 40 E/D 56 None 0.6148 None gnomAD-4.0.0 1.20033E-06
8776 41 I/L 57 rs746071731 0.2183 None gnomAD-2.1.1 4.03E-06
8776 41 I/L 57 rs746071731 0.2183 None gnomAD-4.0.0 1.59158E-06
8776 41 I/M 57 None 0.2183 None gnomAD-4.0.0 6.84287E-07
8776 41 I/V 57 rs746071731 0.2183 None gnomAD-2.1.1 8.07E-06
8776 41 I/V 57 rs746071731 0.2183 None gnomAD-3.1.2 6.57E-06
8776 41 I/V 57 rs746071731 0.2183 None gnomAD-4.0.0 5.1251E-06
8777 42 V/D 58 None 0.7681 None gnomAD-4.0.0 1.59157E-06
8777 42 V/F 58 rs376823283 0.7681 None gnomAD-2.1.1 8.07E-06
8777 42 V/F 58 rs376823283 0.7681 None gnomAD-4.0.0 2.73711E-06
8777 42 V/I 58 None 0.7681 None gnomAD-2.1.1 6.8E-05
8777 42 V/I 58 None 0.7681 None gnomAD-3.1.2 1.44585E-04
8777 42 V/I 58 None 0.7681 None gnomAD-4.0.0 1.19612E-04
8777 42 V/L 58 rs376823283 0.7681 None gnomAD-3.1.2 6.57E-06
8777 42 V/L 58 rs376823283 0.7681 None gnomAD-4.0.0 1.85925E-06
8778 43 R/K 59 rs1486145907 0.3212 None gnomAD-3.1.2 1.31E-05
8778 43 R/K 59 rs1486145907 0.3212 None gnomAD-4.0.0 8.05664E-06
8778 43 R/S 59 rs754011566 0.3212 None gnomAD-2.1.1 4.03E-06
8778 43 R/T 59 rs1486145907 0.3212 None gnomAD-2.1.1 4.03E-06
8778 43 R/T 59 rs1486145907 0.3212 None gnomAD-4.0.0 6.84268E-07
8780 45 S/G 73 None 0.3015 None gnomAD-4.0.0 2.40064E-06
8780 45 S/N 73 rs764652580 0.3015 None gnomAD-2.1.1 4.03E-06
8780 45 S/N 73 rs764652580 0.3015 None gnomAD-4.0.0 1.77904E-05
8780 45 S/R 73 rs756708089 0.3015 None gnomAD-2.1.1 4.03E-06
8780 45 S/R 73 rs756708089 0.3015 None gnomAD-4.0.0 1.59146E-06
8781 46 D/A 111 rs2077152071 0.5849 None gnomAD-3.1.2 6.57E-06
8781 46 D/A 111 rs2077152071 0.5849 None gnomAD-4.0.0 6.57168E-06
8781 46 D/N 111 None 0.5849 None gnomAD-4.0.0 6.00161E-06
8782 47 N/S 115 rs727504895 0.1281 None gnomAD-4.0.0 1.36848E-06
8782 47 N/Y 115 rs1017848590 0.1281 None gnomAD-3.1.2 1.31E-05
8782 47 N/Y 115 rs1017848590 0.1281 None gnomAD-4.0.0 9.29567E-06
8783 48 I/K 121 rs1226202295 0.1209 None gnomAD-3.1.2 6.57E-06
8783 48 I/K 121 rs1226202295 0.1209 None gnomAD-4.0.0 6.57082E-06
8783 48 I/L 121 None 0.1209 None gnomAD-4.0.0 6.84237E-07
8783 48 I/M 121 rs767996372 0.1209 None gnomAD-2.1.1 4.03E-06
8783 48 I/M 121 rs767996372 0.1209 None gnomAD-4.0.0 6.15819E-06
8783 48 I/T 121 rs1226202295 0.1209 None gnomAD-2.1.1 4.03E-06
8783 48 I/T 121 rs1226202295 0.1209 None gnomAD-4.0.0 1.36848E-06
8783 48 I/V 121 rs2077150875 0.1209 None gnomAD-4.0.0 4.78966E-06
8784 49 W/R 122 rs375067750 0.4602 None gnomAD-2.1.1 1.21E-05
8784 49 W/R 122 rs375067750 0.4602 None gnomAD-3.1.2 1.97E-05
8784 49 W/R 122 rs375067750 0.4602 None gnomAD-4.0.0 1.30137E-05
8785 50 I/F 123 rs2077149198 0.2892 None gnomAD-4.0.0 3.18283E-06
8786 51 S/A 125 None 0.3350 None gnomAD-4.0.0 1.20032E-06
8787 52 Y/C 127 rs1365431842 0.3264 None gnomAD-2.1.1 8.07E-06
8787 52 Y/C 127 rs1365431842 0.3264 None gnomAD-4.0.0 2.05272E-06
8787 52 Y/F 127 None 0.3264 None gnomAD-4.0.0 6.8424E-07
8790 55 N/D 134 rs772728050 0.4971 None gnomAD-2.1.1 2.15E-05
8790 55 N/D 134 rs772728050 0.4971 None gnomAD-3.1.2 6.57E-06
8790 55 N/D 134 rs772728050 0.4971 None gnomAD-4.0.0 2.47876E-06
8791 56 I/F 135 None 0.2260 None gnomAD-4.0.0 1.20032E-06
8792 57 A/E 136 rs761198294 0.1036 None gnomAD-2.1.1 4.03E-06
8792 57 A/E 136 rs761198294 0.1036 None gnomAD-3.1.2 2.63E-05
8792 57 A/E 136 rs761198294 0.1036 None gnomAD-4.0.0 4.33802E-06
8792 57 A/S 136 rs764989717 0.1036 None gnomAD-2.1.1 4.03E-06
8792 57 A/S 136 rs764989717 0.1036 None gnomAD-3.1.2 6.57E-06
8792 57 A/S 136 rs764989717 0.1036 None gnomAD-4.0.0 2.5623E-06
8793 58 T/A 137 rs776154251 0.1975 None gnomAD-2.1.1 5.37E-05
8793 58 T/A 137 rs776154251 0.1975 None gnomAD-3.1.2 1.97E-05
8793 58 T/A 137 rs776154251 0.1975 None gnomAD-4.0.0 1.54926E-05
8794 59 L/I 138 None 0.0771 None gnomAD-2.1.1 4.03E-06
8794 59 L/I 138 None 0.0771 None gnomAD-3.1.2 1.97E-05
8794 59 L/I 138 None 0.0771 None gnomAD-4.0.0 3.09861E-06
8794 59 L/V 138 rs372229450 0.0771 None gnomAD-2.1.1 2.5E-05
8794 59 L/V 138 rs372229450 0.0771 None gnomAD-3.1.2 1.97E-05
8794 59 L/V 138 rs372229450 0.0771 None 1000 genomes 1.99681E-04
8794 59 L/V 138 rs372229450 0.0771 None gnomAD-4.0.0 1.79706E-05
8795 60 Q/E 139 None 0.2854 None gnomAD-4.0.0 1.20032E-06
8795 60 Q/R 139 None 0.2854 None gnomAD-4.0.0 1.59134E-06
8796 61 F/C 140 None 0.1078 None gnomAD-4.0.0 3.42113E-06
8796 61 F/L 140 rs1193918191 0.1078 None gnomAD-2.1.1 4.03E-06
8796 61 F/L 140 rs1193918191 0.1078 None gnomAD-4.0.0 1.59133E-06
8797 62 S/A 141 None 0.2825 None gnomAD-4.0.0 1.20032E-06
8798 63 R/K 143 None 0.7380 None gnomAD-4.0.0 6.84225E-07
8798 63 R/T 143 rs771748059 0.7380 None gnomAD-2.1.1 3.22E-05
8798 63 R/T 143 rs771748059 0.7380 None gnomAD-3.1.2 6.57E-06
8798 63 R/T 143 rs771748059 0.7380 None gnomAD-4.0.0 3.03658E-05
8799 64 V/M 144 rs1560601919 0.1289 None gnomAD-4.0.0 6.15807E-06
8801 66 P/A 146 rs1220132171 0.4756 None gnomAD-2.1.1 4.03E-06
8801 66 P/A 146 rs1220132171 0.4756 None gnomAD-4.0.0 3.18267E-06
8801 66 P/L 146 rs778967914 0.4756 None gnomAD-2.1.1 8.05E-06
8801 66 P/L 146 rs778967914 0.4756 None gnomAD-4.0.0 4.10536E-06
8801 66 P/T 146 None 0.4756 None gnomAD-4.0.0 3.18267E-06
8802 67 A/D 148 rs1292226345 0.5607 None gnomAD-2.1.1 4.03E-06
8802 67 A/D 148 rs1292226345 0.5607 None gnomAD-4.0.0 1.59134E-06
8803 68 N/S 149 rs12693164 0.2129 None gnomAD-2.1.1 1.77519E-01
8803 68 N/S 149 rs12693164 0.2129 None gnomAD-3.1.2 1.68341E-01
8803 68 N/S 149 rs12693164 0.2129 None 1000 genomes 2.47005E-01
8803 68 N/S 149 rs12693164 0.2129 None gnomAD-4.0.0 1.64667E-01
8804 69 A/P 151 rs778012263 0.2836 None gnomAD-3.1.2 6.57E-06
8804 69 A/P 151 rs778012263 0.2836 None gnomAD-4.0.0 1.85913E-06
8804 69 A/S 151 rs778012263 0.2836 None gnomAD-2.1.1 4.03E-06
8805 70 G/R 152 rs756620595 0.1942 None gnomAD-2.1.1 4.03E-06
8805 70 G/R 152 rs756620595 0.1942 None gnomAD-4.0.0 1.59136E-06
8808 73 T/A 155 None 0.2063 None gnomAD-4.0.0 1.20033E-06
8809 74 C/R 156 rs753253530 0.0868 None gnomAD-2.1.1 4.02E-06
8810 75 Q/H 157 rs781752797 0.2381 None gnomAD-2.1.1 8.05E-06
8810 75 Q/H 157 rs781752797 0.2381 None gnomAD-4.0.0 9.57938E-06
8810 75 Q/L 157 rs934473433 0.2381 None gnomAD-2.1.1 4.02E-06
8810 75 Q/L 157 rs934473433 0.2381 None gnomAD-3.1.2 6.57E-06
8810 75 Q/L 157 rs934473433 0.2381 None gnomAD-4.0.0 5.12471E-06
8811 76 I/V 158 rs1346764958 0.0773 None gnomAD-2.1.1 4.02E-06
8811 76 I/V 158 rs1346764958 0.0773 None gnomAD-4.0.0 4.8013E-06
8813 78 N/S 161 rs2077136991 0.1434 None gnomAD-4.0.0 1.5916E-06
8814 79 D/N 162 rs1035364658 0.5808 None gnomAD-2.1.1 4.02E-06
8814 79 D/N 162 rs1035364658 0.5808 None gnomAD-4.0.0 1.59175E-06
8814 79 D/Y 162 rs1035364658 0.5808 None gnomAD-3.1.2 6.57E-06
8814 79 D/Y 162 rs1035364658 0.5808 None gnomAD-4.0.0 6.57315E-06
8815 80 A/G 163 rs1168744166 0.3037 None gnomAD-2.1.1 7.15E-06
8815 80 A/G 163 rs1168744166 0.3037 None gnomAD-3.1.2 1.31E-05
8815 80 A/G 163 rs1168744166 0.3037 None gnomAD-4.0.0 8.96895E-06
8815 80 A/V 163 rs1168744166 0.3037 None gnomAD-2.1.1 4.02E-06
8815 80 A/V 163 rs1168744166 0.3037 None gnomAD-4.0.0 3.18348E-06
8817 82 M/I 165 rs1427255919 0.5346 None gnomAD-2.1.1 8.05E-06
8817 82 M/I 165 rs1427255919 0.5346 None gnomAD-4.0.0 3.18436E-06
8817 82 M/T 165 rs1469529188 0.5346 None gnomAD-2.1.1 4.02E-06
8817 82 M/T 165 rs1469529188 0.5346 None gnomAD-4.0.0 9.58085E-06
8817 82 M/V 165 rs878856898 0.5346 None gnomAD-4.0.0 1.5918E-06
8818 83 Q/K 166 rs2077133872 0.3218 None gnomAD-3.1.2 6.58E-06
8818 83 Q/K 166 rs2077133872 0.3218 None gnomAD-4.0.0 2.56377E-06
8819 84 E/D 168 rs1242327696 0.4752 None gnomAD-2.1.1 1.91058E-04
8819 84 E/D 168 rs1242327696 0.4752 None gnomAD-3.1.2 4.6E-05
8819 84 E/D 168 rs1242327696 0.4752 None gnomAD-4.0.0 4.60109E-05
8819 84 E/K 168 rs1452521377 0.4752 None gnomAD-4.0.0 2.73754E-06
8820 85 C/G 169 rs1193461740 0.1054 None gnomAD-3.1.2 6.58E-06
8820 85 C/G 169 rs1193461740 0.1054 None gnomAD-4.0.0 6.57592E-06
8820 85 C/Y 169 rs778500616 0.1054 None gnomAD-2.1.1 4.02E-06
8820 85 C/Y 169 rs778500616 0.1054 None gnomAD-4.0.0 1.59325E-06
8822 87 A/S 172 None 0.1162 None gnomAD-4.0.0 2.73873E-06
8822 87 A/T 172 rs184883436 0.1162 None gnomAD-2.1.1 9.29E-05
8822 87 A/T 172 rs184883436 0.1162 None gnomAD-3.1.2 4.6E-05
8822 87 A/T 172 rs184883436 0.1162 None gnomAD-4.0.0 5.76658E-05
8822 87 A/V 172 rs753291479 0.1162 None gnomAD-2.1.1 4.02E-06
8822 87 A/V 172 rs753291479 0.1162 None gnomAD-4.0.0 1.57463E-05
8823 88 T/K 173 rs368151971 0.3665 None gnomAD-2.1.1 4.03E-06
8823 88 T/K 173 rs368151971 0.3665 None gnomAD-4.0.0 6.84809E-07
8823 88 T/M 173 rs368151971 0.3665 None gnomAD-2.1.1 2.01E-05
8823 88 T/M 173 rs368151971 0.3665 None gnomAD-3.1.2 5.92E-05
8823 88 T/M 173 rs368151971 0.3665 None 1000 genomes 1.99681E-04
8823 88 T/M 173 rs368151971 0.3665 None gnomAD-4.0.0 1.98452E-05
8823 88 T/R 173 None 0.3665 None gnomAD-4.0.0 6.84809E-07
8824 89 L/I 174 rs1322441627 0.1098 None gnomAD-2.1.1 3.19E-05
8824 89 L/I 174 rs1322441627 0.1098 None gnomAD-3.1.2 6.57E-06
8824 89 L/I 174 rs1322441627 0.1098 None gnomAD-4.0.0 6.57263E-06
8825 90 S/F 175 rs2077128629 0.2992 None gnomAD-4.0.0 1.59566E-06
8826 91 V/I 178 rs200116046 0.2114 None gnomAD-2.1.1 4.03E-06
8826 91 V/I 178 rs200116046 0.2114 None gnomAD-4.0.0 2.74088E-06