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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
31808 2 P/Q 2 None 0.1079 None gnomAD-4.0.0 1.20033E-06
31809 3 S/P 3 None 0.2025 None gnomAD-4.0.0 3.42417E-06
31810 4 P/T 4 None 0.3462 None gnomAD-4.0.0 1.59393E-06
31811 5 P/A 5 rs373291051 0.1388 None gnomAD-2.1.1 7.15E-06
31811 5 P/A 5 rs373291051 0.1388 None gnomAD-4.0.0 2.73856E-06
31811 5 P/S 5 rs373291051 0.1388 None gnomAD-3.1.2 6.57E-06
31811 5 P/S 5 rs373291051 0.1388 None gnomAD-4.0.0 1.86013E-06
31812 6 G/S 6 rs754416007 0.2181 None gnomAD-2.1.1 1.61E-05
31812 6 G/S 6 rs754416007 0.2181 None gnomAD-4.0.0 1.64306E-05
31814 8 P/A 9 rs370079368 0.1428 None gnomAD-2.1.1 4.02E-06
31814 8 P/R 9 None 0.1428 None gnomAD-4.0.0 1.59243E-06
31815 9 E/K 11 rs779953291 0.7479 None gnomAD-2.1.1 4.02E-06
31815 9 E/K 11 rs779953291 0.7479 None gnomAD-4.0.0 2.05303E-06
31816 10 E/K 12 None 0.3759 None gnomAD-4.0.0 1.20032E-06
31816 10 E/V 12 rs1226499081 0.3759 None gnomAD-2.1.1 4.02E-06
31816 10 E/V 12 rs1226499081 0.3759 None gnomAD-4.0.0 1.59188E-06
31817 11 V/A 13 rs758207460 0.4342 None gnomAD-2.1.1 8.44E-05
31817 11 V/A 13 rs758207460 0.4342 None gnomAD-3.1.2 1.7748E-04
31817 11 V/A 13 rs758207460 0.4342 None gnomAD-4.0.0 3.78062E-05
31817 11 V/L 13 rs1322909513 0.4342 None gnomAD-3.1.2 6.57E-06
31817 11 V/L 13 rs1322909513 0.4342 None gnomAD-4.0.0 6.57047E-06
31819 13 T/P 15 None 0.3131 None gnomAD-4.0.0 1.59158E-06
31821 15 K/R 17 rs372388579 0.3055 None gnomAD-2.1.1 2.5E-05
31821 15 K/R 17 rs372388579 0.3055 None gnomAD-3.1.2 6.57E-05
31821 15 K/R 17 rs372388579 0.3055 None gnomAD-4.0.0 1.17745E-05
31822 16 E/A 18 None 0.6552 None gnomAD-4.0.0 4.77426E-06
31822 16 E/D 18 rs1302716458 0.6552 None gnomAD-2.1.1 4.02E-06
31822 16 E/D 18 rs1302716458 0.6552 None gnomAD-4.0.0 1.59143E-06
31822 16 E/K 18 rs986919717 0.6552 None gnomAD-4.0.0 1.59144E-06
31823 17 H/R 19 rs794729539 0.2549 None gnomAD-2.1.1 8.04E-06
31823 17 H/R 19 rs794729539 0.2549 None gnomAD-3.1.2 1.97E-05
31823 17 H/R 19 rs794729539 0.2549 None gnomAD-4.0.0 2.04499E-05
31825 19 I/L 21 None 0.2029 None gnomAD-4.0.0 1.59137E-06
31825 19 I/V 21 rs1393236297 0.2029 None gnomAD-2.1.1 1.21E-05
31825 19 I/V 21 rs1393236297 0.2029 None gnomAD-4.0.0 4.77411E-06
31826 20 I/F 22 rs1441494363 0.0828 None gnomAD-2.1.1 6.37E-05
31826 20 I/F 22 rs1441494363 0.0828 None gnomAD-3.1.2 2.63E-05
31826 20 I/F 22 rs1441494363 0.0828 None gnomAD-4.0.0 2.62784E-05
31826 20 I/V 22 rs1441494363 0.0828 None gnomAD-4.0.0 1.36846E-06
31829 23 T/R 25 rs762048345 0.6793 None gnomAD-2.1.1 8.03E-06
31829 23 T/R 25 rs762048345 0.6793 None gnomAD-3.1.2 6.57E-06
31829 23 T/R 25 rs762048345 0.6793 None gnomAD-4.0.0 6.40628E-06
31832 26 E/A 28 None 1.0267 None gnomAD-4.0.0 1.36847E-06
31832 26 E/K 28 rs753982218 1.0267 None gnomAD-2.1.1 8.03E-06
31832 26 E/K 28 rs753982218 1.0267 None gnomAD-3.1.2 6.57E-06
31832 26 E/K 28 rs753982218 1.0267 None gnomAD-4.0.0 6.40579E-06
31832 26 E/V 28 None 1.0267 None gnomAD-4.0.0 6.84233E-06
31833 27 S/T 29 rs764271138 0.4052 None gnomAD-2.1.1 1.61E-05
31833 27 S/T 29 rs764271138 0.4052 None gnomAD-3.1.2 6.57E-06
31833 27 S/T 29 rs764271138 0.4052 None gnomAD-4.0.0 5.57753E-06
31834 28 D/A 30 rs902706151 0.3262 None gnomAD-2.1.1 7.13E-06
31834 28 D/A 30 rs902706151 0.3262 None gnomAD-3.1.2 1.31E-05
31834 28 D/A 30 rs902706151 0.3262 None gnomAD-4.0.0 3.84336E-06
31834 28 D/H 30 None 0.3262 None gnomAD-4.0.0 1.5914E-06
31834 28 D/Y 30 rs1696707547 0.3262 None gnomAD-4.0.0 1.5914E-06
31835 29 G/D 31 rs760663349 0.3969 None gnomAD-2.1.1 4.02E-06
31835 29 G/R 31 None 0.3969 None gnomAD-4.0.0 1.20032E-06
31836 30 G/D 32 None 0.6198 None gnomAD-4.0.0 1.59139E-06
31837 31 N/S 33 None 0.4947 None gnomAD-4.0.0 1.20032E-06
31838 32 E/G 34 rs1196738790 0.9119 None gnomAD-2.1.1 4.02E-06
31838 32 E/G 34 rs1196738790 0.9119 None gnomAD-4.0.0 2.73693E-06
31838 32 E/V 34 None 0.9119 None gnomAD-4.0.0 1.36847E-06
31840 34 S/N 36 rs1696700303 0.3032 None gnomAD-3.1.2 6.57E-06
31840 34 S/N 36 rs1696700303 0.3032 None gnomAD-4.0.0 6.57194E-06
31841 35 N/D 37 rs794729540 0.1674 None gnomAD-2.1.1 3.19E-05
31841 35 N/D 37 rs794729540 0.1674 None gnomAD-3.1.2 1.97E-05
31841 35 N/D 37 rs794729540 0.1674 None gnomAD-4.0.0 1.6732E-05
31841 35 N/Y 37 None 0.1674 None gnomAD-4.0.0 6.84233E-07
31842 36 Y/D 38 rs1452962684 0.1140 None gnomAD-2.1.1 4.02E-06
31842 36 Y/D 38 rs1452962684 0.1140 None gnomAD-4.0.0 1.36847E-06
31843 37 L/P 39 rs1696696732 0.1797 None gnomAD-3.1.2 6.57E-06
31843 37 L/P 39 rs1696696732 0.1797 None gnomAD-4.0.0 6.57376E-06
31843 37 L/R 39 None 0.1797 None gnomAD-4.0.0 1.5914E-06
31844 38 V/A 40 rs776197188 0.0942 None gnomAD-2.1.1 1.07E-05
31844 38 V/A 40 rs776197188 0.0942 None gnomAD-3.1.2 1.32E-05
31844 38 V/A 40 rs776197188 0.0942 None gnomAD-4.0.0 4.33817E-06
31844 38 V/I 40 None 0.0942 None gnomAD-4.0.0 2.40064E-06
31845 39 D/N 41 rs772648821 0.1528 None gnomAD-2.1.1 4.02E-06
31846 40 K/R 42 rs759982252 0.1993 None gnomAD-2.1.1 1.2E-05
31846 40 K/R 42 rs759982252 0.1993 None gnomAD-3.1.2 2.63E-05
31846 40 K/R 42 rs759982252 0.1993 None gnomAD-4.0.0 8.96817E-06
31847 41 R/C 43 rs774814532 0.2184 None gnomAD-2.1.1 2.41E-05
31847 41 R/C 43 rs774814532 0.2184 None gnomAD-3.1.2 6.57E-06
31847 41 R/C 43 rs774814532 0.2184 None gnomAD-4.0.0 1.36341E-05
31847 41 R/H 43 rs771179752 0.2184 None gnomAD-2.1.1 4.02E-05
31847 41 R/H 43 rs771179752 0.2184 None gnomAD-3.1.2 1.31E-05
31847 41 R/H 43 rs771179752 0.2184 None gnomAD-4.0.0 4.46199E-05
31847 41 R/P 43 rs771179752 0.2184 MmD
Literature None
31847 41 R/P 43 rs771179752 0.2184 None gnomAD-4.0.0 6.84237E-07
31851 45 S/N 60 rs746468000 0.2925 None gnomAD-2.1.1 4.02E-06
31851 45 S/N 60 rs746468000 0.2925 None gnomAD-3.1.2 6.57E-06
31851 45 S/N 60 rs746468000 0.2925 None gnomAD-4.0.0 1.23945E-06
31852 46 L/P 63 rs62621206 1.2305 None gnomAD-2.1.1 1.08384E-02
31852 46 L/P 63 rs62621206 1.2305 None gnomAD-3.1.2 1.12135E-02
31852 46 L/P 63 rs62621206 1.2305 None 1000 genomes 5.59105E-03
31852 46 L/P 63 rs62621206 1.2305 None gnomAD-4.0.0 1.51072E-02
31852 46 L/Q 63 None 1.2305 None gnomAD-2.1.1 4.02E-06
31852 46 L/Q 63 None 1.2305 None gnomAD-4.0.0 1.36847E-06
31852 46 L/R 63 rs62621206 1.2305 None gnomAD-2.1.1 4.02E-06
31853 47 R/C 64 rs727503542 0.7851 None gnomAD-2.1.1 1.78E-05
31853 47 R/C 64 rs727503542 0.7851 None gnomAD-3.1.2 3.29E-05
31853 47 R/C 64 rs727503542 0.7851 None gnomAD-4.0.0 3.78017E-05
31853 47 R/H 64 rs754151944 0.7851 None gnomAD-2.1.1 8.2E-05
31853 47 R/H 64 rs754151944 0.7851 None gnomAD-3.1.2 1.05161E-04
31853 47 R/H 64 rs754151944 0.7851 None gnomAD-4.0.0 2.29298E-05
31853 47 R/S 64 rs727503542 0.7851 None gnomAD-4.0.0 6.84242E-07
31854 48 W/C 65 rs752756889 0.2582 None gnomAD-2.1.1 1.2E-05
31854 48 W/C 65 rs752756889 0.2582 None gnomAD-3.1.2 6.57E-06
31854 48 W/C 65 rs752756889 0.2582 None gnomAD-4.0.0 8.96879E-06
31855 49 T/I 66 rs1696674198 0.4357 None gnomAD-3.1.2 6.57E-06
31855 49 T/I 66 rs1696674198 0.4357 None gnomAD-4.0.0 2.56253E-06
31856 50 R/C 67 rs72648261 0.2517 None gnomAD-2.1.1 2.14E-05
31856 50 R/C 67 rs72648261 0.2517 None gnomAD-3.1.2 3.94E-05
31856 50 R/C 67 rs72648261 0.2517 None gnomAD-4.0.0 1.30146E-05
31856 50 R/G 67 rs72648261 0.2517 None gnomAD-3.1.2 6.57E-06
31856 50 R/G 67 rs72648261 0.2517 None gnomAD-4.0.0 1.23949E-06
31856 50 R/H 67 rs876658093 0.2517 None gnomAD-2.1.1 1.21E-05
31856 50 R/H 67 rs876658093 0.2517 None gnomAD-4.0.0 1.43691E-05
31856 50 R/L 67 None 0.2517 None gnomAD-4.0.0 6.84244E-07
31856 50 R/P 67 None 0.2517 None gnomAD-4.0.0 1.36849E-06
31856 50 R/S 67 None 0.2517 None gnomAD-2.1.1 4.02E-06
31857 51 V/A 68 rs1696670937 0.1831 None gnomAD-3.1.2 6.57E-06
31857 51 V/A 68 rs1696670937 0.1831 None gnomAD-4.0.0 3.8438E-06
31857 51 V/I 68 None 0.1831 None gnomAD-4.0.0 1.59146E-06
31858 52 N/S 69 rs771395028 0.1204 None gnomAD-2.1.1 4.02E-05
31858 52 N/S 69 rs771395028 0.1204 None gnomAD-3.1.2 3.29E-05
31858 52 N/S 69 rs771395028 0.1204 None gnomAD-4.0.0 1.85912E-05
31860 54 D/E 72 None 0.9171 None gnomAD-4.0.0 6.84255E-07
31861 55 Y/C 73 rs59148238 0.3620 None gnomAD-2.1.1 2.8891E-04
31861 55 Y/C 73 rs59148238 0.3620 None gnomAD-3.1.2 8.28152E-04
31861 55 Y/C 73 rs59148238 0.3620 None 1000 genomes 1.19808E-03
31861 55 Y/C 73 rs59148238 0.3620 None gnomAD-4.0.0 1.87768E-04
31862 56 V/A 75 None 0.3263 None gnomAD-4.0.0 1.20032E-06
31863 57 V/A 77 None 0.1130 None gnomAD-4.0.0 1.20032E-06
31863 57 V/L 77 None 0.1130 None gnomAD-4.0.0 1.59153E-06
31863 57 V/M 77 rs1261237419 0.1130 None gnomAD-2.1.1 4.02E-06
31864 58 Y/C 83 None 0.6122 None gnomAD-4.0.0 5.47409E-06
31864 58 Y/F 83 None 0.6122 None gnomAD-4.0.0 6.84261E-07
31864 58 Y/H 83 None 0.6122 None gnomAD-4.0.0 3.18308E-06
31865 59 D/A 88 None 0.6425 None gnomAD-4.0.0 1.59155E-06
31865 59 D/E 88 rs745843064 0.6425 None gnomAD-2.1.1 4.02E-06
31865 59 D/H 88 rs1696661402 0.6425 None gnomAD-3.1.2 6.57E-06
31865 59 D/H 88 rs1696661402 0.6425 None gnomAD-4.0.0 3.84385E-06
31866 60 T/A 89 rs1559138864 0.1915 None gnomAD-2.1.1 4.02E-06
31866 60 T/A 89 rs1559138864 0.1915 None gnomAD-4.0.0 3.1831E-06
31867 61 R/G 90 rs778708400 0.4781 None gnomAD-4.0.0 3.42136E-06
31867 61 R/S 90 None 0.4781 None gnomAD-4.0.0 2.40064E-06
31868 62 L/M 91 None 0.1700 None gnomAD-4.0.0 1.20032E-06
31868 62 L/Q 91 rs1559138758 0.1700 None gnomAD-2.1.1 4.02E-06
31868 62 L/Q 91 rs1559138758 0.1700 None gnomAD-4.0.0 1.59163E-06
31872 66 S/G 96 None 0.6968 None gnomAD-4.0.0 1.59171E-06
31872 66 S/R 96 rs757129504 0.6968 None gnomAD-2.1.1 1.61E-05
31872 66 S/R 96 rs757129504 0.6968 None gnomAD-3.1.2 1.31E-05
31872 66 S/R 96 rs757129504 0.6968 None gnomAD-4.0.0 6.01193E-05
31872 66 S/T 96 rs1696652076 0.6968 None gnomAD-3.1.2 6.57E-06
31872 66 S/T 96 rs1696652076 0.6968 None gnomAD-4.0.0 6.57168E-06
31873 67 L/M 97 rs748974241 0.0929 None gnomAD-2.1.1 8.04E-06
31873 67 L/M 97 rs748974241 0.0929 None gnomAD-4.0.0 1.59174E-06
31873 67 L/R 97 rs778060662 0.0929 None gnomAD-2.1.1 2.01E-05
31873 67 L/R 97 rs778060662 0.0929 None gnomAD-3.1.2 1.31E-05
31873 67 L/R 97 rs778060662 0.0929 None gnomAD-4.0.0 1.23955E-05
31874 68 M/R 98 rs1405952396 0.5384 None gnomAD-2.1.1 4.02E-06
31874 68 M/T 98 None 0.5384 None gnomAD-4.0.0 1.59179E-06
31875 69 E/K 99 rs371534086 0.5015 None gnomAD-3.1.2 6.57E-06
31875 69 E/K 99 rs371534086 0.5015 None gnomAD-4.0.0 1.85935E-06
31877 71 C/Y 102 rs1335546534 0.2053 None gnomAD-2.1.1 3.19E-05
31877 71 C/Y 102 rs1335546534 0.2053 None gnomAD-3.1.2 6.57E-06
31877 71 C/Y 102 rs1335546534 0.2053 None gnomAD-4.0.0 6.57142E-06
31878 72 D/N 103 rs752844593 0.2932 None gnomAD-2.1.1 1.21E-05
31878 72 D/N 103 rs752844593 0.2932 None gnomAD-4.0.0 3.62726E-05
31881 75 F/I 106 None 0.1085 None gnomAD-4.0.0 1.20032E-06
31881 75 F/L 106 rs1157557986 0.1085 None gnomAD-2.1.1 4.03E-06
31881 75 F/L 106 rs1157557986 0.1085 None gnomAD-4.0.0 1.20032E-06
31882 76 R/Q 107 rs767746607 0.1767 None gnomAD-2.1.1 1.79E-05
31882 76 R/Q 107 rs767746607 0.1767 None gnomAD-3.1.2 1.31E-05
31882 76 R/Q 107 rs767746607 0.1767 None gnomAD-4.0.0 7.44054E-06
31882 76 R/W 107 rs745999245 0.1767 None gnomAD-2.1.1 4.03E-06
31882 76 R/W 107 rs745999245 0.1767 None gnomAD-4.0.0 9.58388E-06
31883 77 V/M 108 rs72648262 0.0715 None gnomAD-2.1.1 1.61E-05
31883 77 V/M 108 rs72648262 0.0715 None gnomAD-3.1.2 3.29E-05
31883 77 V/M 108 rs72648262 0.0715 None gnomAD-4.0.0 2.43639E-05
31884 78 T/I 109 rs977811552 0.1213 None gnomAD-2.1.1 8.07E-06
31884 78 T/I 109 rs977811552 0.1213 None gnomAD-4.0.0 6.38457E-06
31885 79 A/S 110 rs72648263 0.0684 None gnomAD-2.1.1 4.04E-06
31885 79 A/S 110 rs72648263 0.0684 None gnomAD-3.1.2 1.31E-05
31885 79 A/S 110 rs72648263 0.0684 None gnomAD-4.0.0 1.862E-06
31885 79 A/T 110 rs72648263 0.0684 None gnomAD-2.1.1 6.92029E-04
31885 79 A/T 110 rs72648263 0.0684 None gnomAD-3.1.2 6.37504E-04
31885 79 A/T 110 rs72648263 0.0684 None gnomAD-4.0.0 1.00292E-03
31885 79 A/V 110 rs1307812044 0.0684 None gnomAD-3.1.2 6.57E-06
31885 79 A/V 110 rs1307812044 0.0684 None gnomAD-4.0.0 6.20499E-06
31887 81 N/I 112 None 0.1213 None gnomAD-4.0.0 1.20032E-06
31889 83 A/T 114 rs1025105445 0.5132 None gnomAD-3.1.2 1.31E-05
31889 83 A/T 114 rs1025105445 0.5132 None gnomAD-4.0.0 3.04476E-06
31890 84 G/V 115 rs763832653 0.2043 None gnomAD-2.1.1 1.22E-05
31890 84 G/V 115 rs763832653 0.2043 None gnomAD-3.1.2 6.57E-06
31890 84 G/V 115 rs763832653 0.2043 None gnomAD-4.0.0 2.57948E-06
31891 85 N/D 117 rs1351753792 0.4976 None gnomAD-2.1.1 8.1E-06
31891 85 N/D 117 rs1351753792 0.4976 None gnomAD-3.1.2 6.57E-06
31891 85 N/D 117 rs1351753792 0.4976 None gnomAD-4.0.0 6.57039E-06
31892 86 S/G 118 None 0.0895 None gnomAD-4.0.0 3.60097E-06
31892 86 S/I 118 rs186675165 0.0895 None gnomAD-2.1.1 4.06E-06
31892 86 S/I 118 rs186675165 0.0895 None gnomAD-3.1.2 6.57E-06
31892 86 S/I 118 rs186675165 0.0895 None 1000 genomes 1.99681E-04
31892 86 S/I 118 rs186675165 0.0895 None gnomAD-4.0.0 2.02959E-06
31893 87 E/K 119 rs1241275942 0.6252 None gnomAD-2.1.1 4.07E-06
31893 87 E/K 119 rs1241275942 0.6252 None gnomAD-4.0.0 3.23073E-06
31895 89 S/G 121 rs775090787 0.1191 None gnomAD-2.1.1 8.2E-06
31895 89 S/G 121 rs775090787 0.1191 None gnomAD-3.1.2 6.57E-06
31895 89 S/G 121 rs775090787 0.1191 None gnomAD-4.0.0 2.49938E-06
31895 89 S/R 121 rs771633297 0.1191 None gnomAD-2.1.1 4.11E-06
31895 89 S/R 121 rs771633297 0.1191 None gnomAD-4.0.0 4.147E-06
31896 90 E/K 122 rs745365163 0.7175 None gnomAD-2.1.1 5.12E-05
31896 90 E/K 122 rs745365163 0.7175 None gnomAD-3.1.2 1.31E-05
31896 90 E/K 122 rs745365163 0.7175 None gnomAD-4.0.0 1.68914E-05
31896 90 E/V 122 rs774355988 0.7175 None gnomAD-2.1.1 5.37E-05
31896 90 E/V 122 rs774355988 0.7175 None gnomAD-4.0.0 2.00499E-05
31897 91 A/T 123 rs2555815 0.2513 None gnomAD-3.1.2 6.57E-06
31897 91 A/T 123 rs2555815 0.2513 None gnomAD-4.0.0 2.63723E-06
31899 93 N/S 125 None 0.9295 None gnomAD-4.0.0 1.20032E-06
31902 96 S/L 129 rs770705757 0.3316 None gnomAD-2.1.1 8.65E-06
31902 96 S/L 129 rs770705757 0.3316 None gnomAD-4.0.0 1.05005E-05
31903 97 C/F 130 rs1417379558 0.0699 None gnomAD-2.1.1 4.37E-06
31903 97 C/F 130 rs1417379558 0.0699 None gnomAD-4.0.0 3.37457E-06
31903 97 C/R 130 None 0.0699 None gnomAD-4.0.0 1.20032E-06
31905 99 E/Q 132 rs777381153 0.3945 None gnomAD-2.1.1 4.5E-06
31905 99 E/Q 132 rs777381153 0.3945 None gnomAD-4.0.0 2.11808E-06