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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6948 1 A/P 1 None 0.1339 None gnomAD-4.0.0 6.99022E-07
6948 1 A/S 1 None 0.1339 None gnomAD-4.0.0 6.99023E-07
6948 1 A/T 1 rs147210608 0.1339 None gnomAD-2.1.1 4.57E-05
6948 1 A/T 1 rs147210608 0.1339 None gnomAD-3.1.2 3.95E-05
6948 1 A/T 1 rs147210608 0.1339 None 1000 genomes 1.99681E-04
6948 1 A/T 1 rs147210608 0.1339 None gnomAD-4.0.0 2.46414E-05
6949 2 V/L 2 None 0.4461 None gnomAD-4.0.0 6.9812E-07
6950 3 I/M 3 rs772569345 0.1271 None gnomAD-2.1.1 4.17E-06
6950 3 I/T 3 rs1553914315 0.1271 None gnomAD-2.1.1 1.25E-05
6950 3 I/T 3 rs1553914315 0.1271 None gnomAD-4.0.0 4.93517E-06
6950 3 I/V 3 rs549440035 0.1271 None gnomAD-2.1.1 3.19E-05
6950 3 I/V 3 rs549440035 0.1271 None gnomAD-3.1.2 1.97E-05
6950 3 I/V 3 rs549440035 0.1271 None gnomAD-4.0.0 1.97094E-05
6951 4 V/D 4 rs1578062152 0.4604 None gnomAD-4.0.0 2.07849E-06
6951 4 V/I 4 rs907454028 0.4604 None gnomAD-2.1.1 4.17E-06
6951 4 V/I 4 rs907454028 0.4604 None gnomAD-3.1.2 6.58E-06
6951 4 V/I 4 rs907454028 0.4604 None gnomAD-4.0.0 3.93788E-06
6952 5 E/A 5 rs779587161 0.5097 None gnomAD-2.1.1 4.15E-06
6952 5 E/K 5 None 0.5097 None gnomAD-4.0.0 1.38516E-06
6953 6 K/E 7 None 0.6726 None gnomAD-4.0.0 4.15281E-06
6954 7 A/V 8 rs17355446 0.2580 None gnomAD-2.1.1 5.29469E-02
6954 7 A/V 8 rs17355446 0.2580 None gnomAD-3.1.2 3.25654E-02
6954 7 A/V 8 rs17355446 0.2580 None 1000 genomes 5.15176E-02
6954 7 A/V 8 rs17355446 0.2580 None gnomAD-4.0.0 3.16713E-02
6955 8 G/R 9 rs2079001383 0.5138 None gnomAD-4.0.0 6.89834E-07
6955 8 G/V 9 rs1030144785 0.5138 None gnomAD-2.1.1 4.1E-06
6955 8 G/V 9 rs1030144785 0.5138 None gnomAD-3.1.2 6.57E-06
6955 8 G/V 9 rs1030144785 0.5138 None gnomAD-4.0.0 1.06141E-05
6956 9 P/L 11 rs1054912076 0.7627 None gnomAD-2.1.1 3.19E-05
6956 9 P/L 11 rs1054912076 0.7627 None gnomAD-3.1.2 6.58E-06
6956 9 P/L 11 rs1054912076 0.7627 None gnomAD-4.0.0 1.87337E-06
6957 10 M/I 13 None 0.2511 None gnomAD-4.0.0 1.37525E-06
6957 10 M/L 13 rs375262781 0.2511 None gnomAD-2.1.1 2.16E-05
6957 10 M/L 13 rs375262781 0.2511 None gnomAD-3.1.2 1.31E-05
6957 10 M/L 13 rs375262781 0.2511 None gnomAD-4.0.0 2.98795E-05
6957 10 M/R 13 None 0.2511 None gnomAD-4.0.0 1.60957E-06
6957 10 M/T 13 rs754721444 0.2511 None gnomAD-2.1.1 4.06E-06
6957 10 M/T 13 rs754721444 0.2511 None gnomAD-3.1.2 6.57E-06
6957 10 M/T 13 rs754721444 0.2511 None gnomAD-4.0.0 2.58602E-06
6958 11 T/A 14 None 0.5162 None gnomAD-4.0.0 1.60919E-06
6958 11 T/M 14 rs371824963 0.5162 None gnomAD-2.1.1 2.44E-05
6958 11 T/M 14 rs371824963 0.5162 None gnomAD-3.1.2 6.58E-06
6958 11 T/M 14 rs371824963 0.5162 None gnomAD-4.0.0 1.05806E-05
6961 14 V/A 23 rs1213182154 0.4703 None gnomAD-2.1.1 4.04E-06
6961 14 V/A 23 rs1213182154 0.4703 None gnomAD-4.0.0 1.20032E-06
6961 14 V/G 23 rs1213182154 0.4703 None gnomAD-2.1.1 3.19E-05
6961 14 V/G 23 rs1213182154 0.4703 None gnomAD-3.1.2 6.58E-06
6961 14 V/G 23 rs1213182154 0.4703 None gnomAD-4.0.0 6.57592E-06
6961 14 V/I 23 rs1268803689 0.4703 None gnomAD-2.1.1 4.05E-06
6961 14 V/I 23 rs1268803689 0.4703 None gnomAD-4.0.0 3.20957E-06
6962 15 G/A 24 None 0.3228 None gnomAD-4.0.0 6.86412E-07
6962 15 G/E 24 rs531296995 0.3228 None gnomAD-2.1.1 4.04E-06
6962 15 G/E 24 rs531296995 0.3228 None gnomAD-3.1.2 6.58E-06
6962 15 G/E 24 rs531296995 0.3228 None 1000 genomes 1.99681E-04
6962 15 G/E 24 rs531296995 0.3228 None gnomAD-4.0.0 4.97185E-06
6962 15 G/R 24 None 0.3228 None gnomAD-4.0.0 3.20617E-06
6963 16 E/K 25 None 0.4498 None gnomAD-4.0.0 6.86362E-07
6963 16 E/Q 25 None 0.4498 None gnomAD-4.0.0 6.86362E-07
6964 17 T/M 26 rs765257439 0.3598 None gnomAD-2.1.1 6.86E-05
6964 17 T/M 26 rs765257439 0.3598 None gnomAD-3.1.2 1.32E-05
6964 17 T/M 26 rs765257439 0.3598 None gnomAD-4.0.0 3.41182E-05
6965 18 C/R 28 None 0.1248 None gnomAD-4.0.0 1.20032E-06
6965 18 C/Y 28 None 0.1248 None gnomAD-4.0.0 1.59492E-06
6966 19 T/A 29 rs764077044 0.2870 None gnomAD-2.1.1 8.06E-06
6966 19 T/A 29 rs764077044 0.2870 None gnomAD-3.1.2 1.32E-05
6966 19 T/A 29 rs764077044 0.2870 None gnomAD-4.0.0 4.34138E-06
6966 19 T/S 29 rs764077044 0.2870 None gnomAD-4.0.0 6.84777E-07
6967 20 L/V 30 None 0.1279 None gnomAD-4.0.0 1.20032E-06
6968 21 E/G 31 None 0.4270 None gnomAD-4.0.0 1.20032E-06
6969 22 C/R 33 rs368762020 0.0792 None gnomAD-2.1.1 4.43E-05
6969 22 C/R 33 rs368762020 0.0792 None gnomAD-3.1.2 1.32E-05
6969 22 C/R 33 rs368762020 0.0792 None gnomAD-4.0.0 1.36424E-05
6969 22 C/S 33 rs368762020 0.0792 None gnomAD-2.1.1 4.03E-06
6969 22 C/S 33 rs368762020 0.0792 None gnomAD-4.0.0 3.72039E-06
6970 23 K/N 34 rs2154303625 0.4111 None gnomAD-4.0.0 1.59249E-06
6971 24 V/A 35 None 0.1139 None gnomAD-4.0.0 1.59241E-06
6971 24 V/M 35 None 0.1139 None gnomAD-4.0.0 1.59247E-06
6972 25 A/S 38 None 0.3560 None gnomAD-4.0.0 4.77747E-06
6973 26 G/D 40 rs760012943 0.3165 None gnomAD-2.1.1 4.02E-06
6973 26 G/D 40 rs760012943 0.3165 None gnomAD-4.0.0 3.18492E-06
6973 26 G/S 40 rs1320591488 0.3165 None gnomAD-2.1.1 4.02E-06
6973 26 G/S 40 rs1320591488 0.3165 None gnomAD-4.0.0 1.36884E-06
6974 27 T/P 41 None 0.7682 None gnomAD-4.0.0 3.60097E-06
6974 27 T/S 41 rs774828625 0.7682 None gnomAD-2.1.1 4.02E-06
6975 28 P/L 42 rs374493881 0.5475 None gnomAD-2.1.1 2.82E-05
6975 28 P/L 42 rs374493881 0.5475 None gnomAD-3.1.2 6.58E-05
6975 28 P/L 42 rs374493881 0.5475 None gnomAD-4.0.0 2.54156E-05
6977 30 L/H 44 None 0.2101 None gnomAD-4.0.0 3.60097E-06
6977 30 L/P 44 rs1201922048 0.2101 None gnomAD-2.1.1 3.19E-05
6977 30 L/P 44 rs1201922048 0.2101 None gnomAD-3.1.2 6.58E-06
6977 30 L/P 44 rs1201922048 0.2101 None gnomAD-4.0.0 6.57583E-06
6979 32 V/A 46 None 0.2738 None gnomAD-4.0.0 1.5922E-06
6979 32 V/F 46 None 0.2738 None gnomAD-4.0.0 6.84378E-07
6979 32 V/I 46 rs768060617 0.2738 None gnomAD-2.1.1 4.02E-06
6979 32 V/I 46 rs768060617 0.2738 None gnomAD-3.1.2 6.57E-06
6979 32 V/I 46 rs768060617 0.2738 None gnomAD-4.0.0 3.09916E-06
6979 32 V/L 46 None 0.2738 None gnomAD-4.0.0 6.84378E-07
6981 34 W/C 48 rs746471698 0.0983 None gnomAD-2.1.1 1.61E-05
6981 34 W/C 48 rs746471698 0.0983 None gnomAD-3.1.2 6.57E-06
6981 34 W/C 48 rs746471698 0.0983 None gnomAD-4.0.0 2.47937E-06
6983 36 K/R 50 rs2078983149 0.1403 None gnomAD-3.1.2 6.57E-06
6983 36 K/R 50 rs2078983149 0.1403 None gnomAD-4.0.0 6.57177E-06
6984 37 D/N 51 None 0.5309 None gnomAD-4.0.0 1.59206E-06
6985 38 G/E 52 None 0.4693 None gnomAD-4.0.0 1.20032E-06
6985 38 G/R 52 rs1451519377 0.4693 None gnomAD-2.1.1 4.02E-06
6985 38 G/R 52 rs1451519377 0.4693 None gnomAD-4.0.0 1.59207E-06
6986 39 K/N 55 rs779709860 0.8028 None gnomAD-2.1.1 4.02E-06
6986 39 K/N 55 rs779709860 0.8028 None gnomAD-3.1.2 1.31E-05
6986 39 K/N 55 rs779709860 0.8028 None gnomAD-4.0.0 6.84348E-07
6987 40 L/P 56 rs375676942 0.3813 None gnomAD-2.1.1 1.43E-05
6987 40 L/P 56 rs375676942 0.3813 None gnomAD-3.1.2 3.94E-05
6987 40 L/P 56 rs375676942 0.3813 None gnomAD-4.0.0 3.94348E-05
6988 41 L/S 58 rs1159385830 0.1490 None gnomAD-3.1.2 2.63E-05
6988 41 L/S 58 rs1159385830 0.1490 None gnomAD-4.0.0 2.62905E-05
6989 42 T/S 59 rs1228987960 0.7075 None gnomAD-2.1.1 3.19E-05
6989 42 T/S 59 rs1228987960 0.7075 None gnomAD-3.1.2 6.57E-06
6989 42 T/S 59 rs1228987960 0.7075 None gnomAD-4.0.0 6.57333E-06
6990 43 S/G 70 rs1467185474 0.5336 None gnomAD-2.1.1 4.02E-06
6990 43 S/G 70 rs1467185474 0.5336 None gnomAD-4.0.0 3.18377E-06
6991 44 S/I 73 rs373585016 0.2557 None gnomAD-2.1.1 4.02E-06
6991 44 S/I 73 rs373585016 0.2557 None gnomAD-4.0.0 2.7373E-06
6991 44 S/N 73 rs373585016 0.2557 None gnomAD-2.1.1 8.04E-06
6991 44 S/N 73 rs373585016 0.2557 None gnomAD-3.1.2 6.57E-06
6991 44 S/N 73 rs373585016 0.2557 None gnomAD-4.0.0 1.05364E-05
6991 44 S/R 73 rs778559152 0.2557 None gnomAD-2.1.1 2.14E-05
6991 44 S/R 73 rs778559152 0.2557 None gnomAD-3.1.2 1.97E-05
6991 44 S/R 73 rs778559152 0.2557 None gnomAD-4.0.0 1.02529E-05
6995 48 K/E 122 None 0.2657 None gnomAD-4.0.0 6.84322E-07
6996 49 F/C 123 rs2078977093 0.3541 None gnomAD-4.0.0 2.40064E-06
6996 49 F/L 123 rs753725329 0.3541 None gnomAD-2.1.1 1.21E-05
6996 49 F/L 123 rs753725329 0.3541 None gnomAD-4.0.0 3.18377E-06
6997 50 S/I 125 rs1003049715 0.4746 None gnomAD-2.1.1 4.02E-06
6997 50 S/I 125 rs1003049715 0.4746 None gnomAD-4.0.0 7.95938E-06
6997 50 S/N 125 None 0.4746 None gnomAD-4.0.0 4.77563E-06
6998 51 F/I 127 rs2078975916 0.3475 None gnomAD-4.0.0 4.10594E-06
6999 52 Y/C 130 rs1343770232 0.8664 None gnomAD-2.1.1 4.02E-06
6999 52 Y/C 130 rs1343770232 0.8664 None gnomAD-4.0.0 6.84326E-06
7000 53 N/D 131 rs1173819966 0.7206 None gnomAD-3.1.2 6.57E-06
7000 53 N/D 131 rs1173819966 0.7206 None gnomAD-4.0.0 2.56303E-06
7000 53 N/I 131 rs764035021 0.7206 None gnomAD-2.1.1 4.02E-06
7000 53 N/I 131 rs764035021 0.7206 None gnomAD-3.1.2 6.57E-06
7000 53 N/I 131 rs764035021 0.7206 None gnomAD-4.0.0 1.85939E-06
7000 53 N/S 131 rs764035021 0.7206 None gnomAD-2.1.1 9.25E-05
7000 53 N/S 131 rs764035021 0.7206 None gnomAD-3.1.2 6.57E-05
7000 53 N/S 131 rs764035021 0.7206 None gnomAD-4.0.0 6.136E-05
7001 54 K/R 134 rs200594798 0.2966 None gnomAD-2.1.1 2.46363E-04
7001 54 K/R 134 rs200594798 0.2966 None gnomAD-3.1.2 6.44152E-04
7001 54 K/R 134 rs200594798 0.2966 None 1000 genomes 1.99681E-04
7001 54 K/R 134 rs200594798 0.2966 None gnomAD-4.0.0 1.33867E-04
7002 55 I/L 135 rs2078973512 0.3183 None gnomAD-3.1.2 6.57E-06
7002 55 I/L 135 rs2078973512 0.3183 None gnomAD-4.0.0 6.57402E-06
7002 55 I/M 135 rs759813012 0.3183 None gnomAD-2.1.1 4.02E-06
7002 55 I/M 135 rs759813012 0.3183 None gnomAD-4.0.0 1.36865E-06
7003 56 S/A 136 None 0.0796 None gnomAD-4.0.0 1.36862E-06
7003 56 S/P 136 None 0.0796 None gnomAD-4.0.0 6.84311E-07
7004 57 S/F 137 None 0.1639 None gnomAD-4.0.0 6.84325E-07
7004 57 S/Y 137 None 0.1639 None gnomAD-4.0.0 6.84325E-07
7005 58 L/F 138 None 0.0635 None gnomAD-4.0.0 1.59181E-06
7006 59 R/K 139 rs771200026 0.5160 None gnomAD-2.1.1 8.04E-06
7006 59 R/K 139 rs771200026 0.5160 None gnomAD-3.1.2 1.31E-05
7006 59 R/K 139 rs771200026 0.5160 None gnomAD-4.0.0 5.12608E-06
7007 60 I/F 140 rs114626713 0.0978 None gnomAD-2.1.1 1.52088E-03
7007 60 I/F 140 rs114626713 0.0978 None gnomAD-3.1.2 4.51493E-03
7007 60 I/F 140 rs114626713 0.0978 None 1000 genomes 3.99361E-03
7007 60 I/F 140 rs114626713 0.0978 None gnomAD-4.0.0 8.13706E-04
7007 60 I/T 140 rs773611280 0.0978 None gnomAD-2.1.1 1.43E-05
7007 60 I/T 140 rs773611280 0.0978 None gnomAD-3.1.2 1.97E-05
7007 60 I/T 140 rs773611280 0.0978 None gnomAD-4.0.0 2.60315E-05
7008 61 L/F 141 rs770243060 0.3402 None gnomAD-3.1.2 6.57E-06
7008 61 L/F 141 rs770243060 0.3402 None gnomAD-4.0.0 6.57212E-06
7008 61 L/I 141 rs770243060 0.3402 None gnomAD-2.1.1 1.21E-05
7008 61 L/I 141 rs770243060 0.3402 None gnomAD-4.0.0 4.10588E-06
7010 63 V/A 144 rs2078969051 0.1005 None gnomAD-4.0.0 1.59182E-06
7010 63 V/F 144 None 0.1005 None gnomAD-4.0.0 6.84316E-07
7010 63 V/I 144 rs564660466 0.1005 None gnomAD-2.1.1 4.42E-05
7010 63 V/I 144 rs564660466 0.1005 None gnomAD-3.1.2 1.31E-05
7010 63 V/I 144 rs564660466 0.1005 None 1000 genomes 1.99681E-04
7010 63 V/I 144 rs564660466 0.1005 None gnomAD-4.0.0 1.23948E-05
7012 65 R/S 146 rs1024577519 0.8726 None gnomAD-2.1.1 2.14E-05
7012 65 R/S 146 rs1024577519 0.8726 None gnomAD-3.1.2 5.92E-05
7012 65 R/S 146 rs1024577519 0.8726 None gnomAD-4.0.0 1.85937E-05
7013 66 Q/K 148 rs1191869265 0.6300 None gnomAD-2.1.1 4.02E-06
7013 66 Q/K 148 rs1191869265 0.6300 None gnomAD-4.0.0 1.59183E-06
7014 67 D/N 149 rs1256056605 0.1683 None gnomAD-4.0.0 1.36862E-06
7014 67 D/V 149 rs1484212258 0.1683 None gnomAD-3.1.2 6.57E-06
7014 67 D/V 149 rs1484212258 0.1683 None gnomAD-4.0.0 6.57125E-06
7015 68 A/T 151 rs779515185 0.2555 None gnomAD-2.1.1 4.02E-06
7015 68 A/T 151 rs779515185 0.2555 None gnomAD-4.0.0 1.59182E-06
7015 68 A/V 151 rs72648960 0.2555 None gnomAD-2.1.1 1.59927E-02
7015 68 A/V 151 rs72648960 0.2555 None gnomAD-3.1.2 8.9011E-03
7015 68 A/V 151 rs72648960 0.2555 None 1000 genomes 3.57428E-02
7015 68 A/V 151 rs72648960 0.2555 None gnomAD-4.0.0 8.21613E-03
7016 69 G/S 152 rs2078965197 0.1912 None gnomAD-3.1.2 6.57E-06
7016 69 G/S 152 rs2078965197 0.1912 None gnomAD-4.0.0 2.56295E-06
7017 70 T/A 153 rs1483904842 0.3821 None gnomAD-2.1.1 4.02E-06
7017 70 T/A 153 rs1483904842 0.3821 None gnomAD-4.0.0 1.59184E-06
7017 70 T/I 153 rs893338987 0.3821 None gnomAD-2.1.1 1.07E-05
7017 70 T/I 153 rs893338987 0.3821 None gnomAD-3.1.2 1.97E-05
7017 70 T/I 153 rs893338987 0.3821 None gnomAD-4.0.0 6.8176E-06
7019 72 T/P 155 rs1310121479 0.2196 None gnomAD-2.1.1 3.19E-05
7019 72 T/P 155 rs1310121479 0.2196 None gnomAD-3.1.2 6.57E-06
7019 72 T/P 155 rs1310121479 0.2196 None gnomAD-4.0.0 1.2396E-06
7019 72 T/S 155 rs1310121479 0.2196 None gnomAD-2.1.1 8.04E-06
7019 72 T/S 155 rs1310121479 0.2196 None gnomAD-4.0.0 1.36866E-06
7020 73 F/L 156 None 0.0684 None gnomAD-4.0.0 1.20032E-06
7020 73 F/S 156 rs1377671005 0.0684 None gnomAD-3.1.2 6.57E-06
7020 73 F/S 156 rs1377671005 0.0684 None gnomAD-4.0.0 6.08958E-06
7021 74 Q/H 157 rs757015621 0.2651 None gnomAD-2.1.1 1.61E-05
7021 74 Q/H 157 rs757015621 0.2651 None gnomAD-4.0.0 1.30028E-05
7023 76 Q/P 159 rs753621469 0.4209 None gnomAD-2.1.1 7.14E-06
7023 76 Q/P 159 rs753621469 0.4209 None gnomAD-3.1.2 6.57E-06
7023 76 Q/P 159 rs753621469 0.4209 None gnomAD-4.0.0 5.57834E-06
7024 77 N/S 161 None 0.1600 None gnomAD-4.0.0 1.5921E-06
7025 78 N/S 162 rs2078960594 0.7150 None gnomAD-3.1.2 6.57E-06
7025 78 N/S 162 rs2078960594 0.7150 None gnomAD-4.0.0 6.57324E-06
7025 78 N/Y 162 None 0.7150 None gnomAD-4.0.0 1.20032E-06
7026 79 V/A 163 None 0.8068 None gnomAD-4.0.0 3.60097E-06
7027 80 G/E 164 rs2078958911 0.2442 None gnomAD-3.1.2 6.57E-06
7027 80 G/E 164 rs2078958911 0.2442 None gnomAD-4.0.0 5.12718E-06
7027 80 G/R 164 rs1237624593 0.2442 None gnomAD-2.1.1 3.19E-05
7027 80 G/R 164 rs1237624593 0.2442 None gnomAD-3.1.2 6.57E-06
7027 80 G/R 164 rs1237624593 0.2442 None gnomAD-4.0.0 6.5716E-06
7029 82 S/N 166 rs1371527659 0.1835 None gnomAD-2.1.1 4.03E-06
7029 82 S/N 166 rs1371527659 0.1835 None gnomAD-4.0.0 1.59236E-06
7031 84 C/Y 169 rs1312705676 0.1537 None gnomAD-2.1.1 4.03E-06
7031 84 C/Y 169 rs1312705676 0.1537 None gnomAD-4.0.0 1.59275E-06
7032 85 T/R 171 rs1361147832 0.5891 None gnomAD-2.1.1 4.03E-06
7032 85 T/R 171 rs1361147832 0.5891 None gnomAD-4.0.0 4.7913E-06
7033 86 A/D 172 rs1176798251 0.1527 None gnomAD-2.1.1 4.03E-06
7033 86 A/D 172 rs1176798251 0.1527 None gnomAD-3.1.2 6.57E-06
7033 86 A/D 172 rs1176798251 0.1527 None gnomAD-4.0.0 6.57117E-06
7034 87 V/E 173 rs1409920305 0.4519 None gnomAD-2.1.1 4.03E-06
7034 87 V/E 173 rs1409920305 0.4519 None gnomAD-4.0.0 1.59352E-06
7035 88 V/I 174 rs1553913782 0.1387 None gnomAD-4.0.0 8.21593E-06
7036 89 D/A 175 None 0.5387 None gnomAD-4.0.0 6.85038E-07
7036 89 D/G 175 rs767695386 0.5387 None gnomAD-2.1.1 4.04E-06
7036 89 D/N 175 rs72648962 0.5387 None gnomAD-2.1.1 5.53642E-03
7036 89 D/N 175 rs72648962 0.5387 None gnomAD-3.1.2 1.57967E-02
7036 89 D/N 175 rs72648962 0.5387 None 1000 genomes 1.55751E-02
7036 89 D/N 175 rs72648962 0.5387 None gnomAD-4.0.0 3.23053E-03
7036 89 D/V 175 rs767695386 0.5387 None gnomAD-2.1.1 2.02E-05
7036 89 D/V 175 rs767695386 0.5387 None gnomAD-3.1.2 6.57E-06
7036 89 D/V 175 rs767695386 0.5387 None gnomAD-4.0.0 1.17869E-05
7037 90 V/I 176 None 0.2288 None gnomAD-4.0.0 1.59646E-06