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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
23924 1 P/L 1 rs1283056884 0.9538 None gnomAD-3.1.2 6.58E-06
23924 1 P/L 1 rs1283056884 0.9538 None gnomAD-4.0.0 1.85937E-06
23924 1 P/S 1 None 0.9538 None gnomAD-4.0.0 1.36855E-06
23925 2 I/M 2 rs1401717606 0.1517 None gnomAD-2.1.1 4.02E-06
23925 2 I/M 2 rs1401717606 0.1517 None gnomAD-3.1.2 1.97E-05
23925 2 I/M 2 rs1401717606 0.1517 None gnomAD-4.0.0 2.10725E-05
23925 2 I/N 2 rs374887185 0.1517 None gnomAD-2.1.1 7.14E-06
23925 2 I/N 2 rs374887185 0.1517 None gnomAD-3.1.2 3.29E-05
23925 2 I/N 2 rs374887185 0.1517 None gnomAD-4.0.0 3.71871E-06
23925 2 I/T 2 rs374887185 0.1517 None gnomAD-2.1.1 1.21E-05
23925 2 I/T 2 rs374887185 0.1517 None gnomAD-4.0.0 6.84282E-06
23926 3 D/Y 3 rs755974144 0.3292 None gnomAD-2.1.1 4.02E-06
23926 3 D/Y 3 rs755974144 0.3292 None gnomAD-3.1.2 6.58E-06
23926 3 D/Y 3 rs755974144 0.3292 None gnomAD-4.0.0 6.57523E-06
23927 4 P/A 4 None 0.3744 None gnomAD-4.0.0 4.10568E-06
23927 4 P/Q 4 None 0.3744 None gnomAD-4.0.0 1.20032E-06
23928 5 P/S 5 rs1161952836 0.1650 None gnomAD-2.1.1 4.02E-06
23928 5 P/S 5 rs1161952836 0.1650 None gnomAD-4.0.0 1.36857E-06
23929 6 G/R 6 rs969302991 0.2713 None gnomAD-2.1.1 1.21E-05
23929 6 G/R 6 rs969302991 0.2713 None gnomAD-3.1.2 2.63E-05
23929 6 G/R 6 rs969302991 0.2713 None gnomAD-4.0.0 3.03713E-05
23930 7 K/I 7 rs752648041 0.3488 None gnomAD-2.1.1 6.84E-05
23930 7 K/I 7 rs752648041 0.3488 None gnomAD-3.1.2 1.97E-05
23930 7 K/I 7 rs752648041 0.3488 None gnomAD-4.0.0 4.9582E-05
23932 9 V/I 11 rs1437243224 0.5231 None gnomAD-3.1.2 6.58E-06
23932 9 V/I 11 rs1437243224 0.5231 None gnomAD-4.0.0 6.57557E-06
23934 11 L/V 13 rs1465413205 0.4472 None gnomAD-4.0.0 1.36858E-06
23940 17 T/I 19 rs1553610793 0.2883 None gnomAD-4.0.0 3.18354E-06
23940 17 T/R 19 None 0.2883 None gnomAD-4.0.0 3.18354E-06
23941 18 V/I 20 rs879251642 0.1193 None gnomAD-2.1.1 4.03E-06
23941 18 V/I 20 rs879251642 0.1193 None gnomAD-3.1.2 1.97E-05
23941 18 V/I 20 rs879251642 0.1193 None gnomAD-4.0.0 4.95845E-06
23942 19 T/I 21 None 0.1830 None gnomAD-4.0.0 6.84317E-07
23942 19 T/K 21 None 0.1830 None gnomAD-4.0.0 6.84317E-07
23944 21 K/N 23 rs1449315408 0.5104 None gnomAD-4.0.0 3.42169E-06
23945 22 W/C 24 rs1217858818 0.1327 None gnomAD-2.1.1 4.03E-06
23945 22 W/C 24 rs1217858818 0.1327 None gnomAD-4.0.0 1.592E-06
23945 22 W/R 24 rs553796385 0.1327 None gnomAD-2.1.1 1.61E-05
23945 22 W/R 24 rs553796385 0.1327 None gnomAD-3.1.2 1.31E-05
23945 22 W/R 24 rs553796385 0.1327 None 1000 genomes 1.99681E-04
23945 22 W/R 24 rs553796385 0.1327 None gnomAD-4.0.0 5.578E-06
23946 23 A/D 25 rs1709305155 0.4388 None gnomAD-3.1.2 6.58E-06
23946 23 A/D 25 rs1709305155 0.4388 None gnomAD-4.0.0 1.2397E-06
23946 23 A/G 25 rs1709305155 0.4388 None gnomAD-4.0.0 1.36871E-06
23946 23 A/T 25 rs372001011 0.4388 None gnomAD-4.0.0 6.8436E-07
23946 23 A/V 25 None 0.4388 None gnomAD-4.0.0 6.84357E-07
23947 24 K/N 26 rs56019808 0.7472 None gnomAD-2.1.1 1.78941E-04
23947 24 K/N 26 rs56019808 0.7472 None gnomAD-3.1.2 5.52203E-04
23947 24 K/N 26 rs56019808 0.7472 None 1000 genomes 5.99042E-04
23947 24 K/N 26 rs56019808 0.7472 None gnomAD-4.0.0 9.17307E-05
23948 25 P/H 27 rs762929729 0.1702 None gnomAD-2.1.1 4.03E-06
23948 25 P/H 27 rs762929729 0.1702 None gnomAD-4.0.0 1.59212E-06
23948 25 P/L 27 None 0.1702 None gnomAD-4.0.0 1.59212E-06
23948 25 P/T 27 None 0.1702 None gnomAD-4.0.0 1.59209E-06
23949 26 E/K 28 rs866868965 0.9819 None gnomAD-2.1.1 4.03E-06
23949 26 E/K 28 rs866868965 0.9819 None gnomAD-3.1.2 1.32E-05
23949 26 E/K 28 rs866868965 0.9819 None gnomAD-4.0.0 3.09957E-06
23951 28 T/A 30 None 0.2508 None gnomAD-4.0.0 3.60097E-06
23951 28 T/P 30 rs1709298098 0.2508 None gnomAD-3.1.2 6.57E-06
23951 28 T/P 30 rs1709298098 0.2508 None gnomAD-4.0.0 6.57358E-06
23951 28 T/S 30 None 0.2508 None gnomAD-4.0.0 1.59267E-06
23953 30 G/C 32 rs992436361 0.3456 None gnomAD-2.1.1 4.04E-06
23953 30 G/C 32 rs992436361 0.3456 None gnomAD-4.0.0 2.73805E-06
23953 30 G/D 32 rs1272483888 0.3456 None gnomAD-2.1.1 8.07E-06
23953 30 G/D 32 rs1272483888 0.3456 None gnomAD-4.0.0 6.37564E-06
23953 30 G/S 32 None 0.3456 None gnomAD-4.0.0 6.84513E-07
23954 31 F/L 33 rs1415995155 0.4616 None gnomAD-2.1.1 3.19E-05
23954 31 F/L 33 rs1415995155 0.4616 None gnomAD-3.1.2 6.57E-06
23954 31 F/L 33 rs1415995155 0.4616 None gnomAD-4.0.0 6.57445E-06
23955 32 K/N 34 None 0.6649 None gnomAD-4.0.0 6.84658E-07
23955 32 K/Q 34 None 0.6649 None gnomAD-4.0.0 1.20032E-06
23956 33 I/M 35 rs778594459 0.1502 None gnomAD-2.1.1 4.04E-06
23957 34 T/I 36 None 0.2759 None gnomAD-4.0.0 6.8468E-07
23957 34 T/N 36 None 0.2759 None gnomAD-4.0.0 6.8468E-07
23957 34 T/S 36 rs1330924504 0.2759 None gnomAD-2.1.1 4.04E-06
23957 34 T/S 36 rs1330924504 0.2759 None gnomAD-4.0.0 1.36936E-06
23958 35 S/R 37 rs372289212 0.1607 None gnomAD-2.1.1 1.43E-05
23958 35 S/R 37 rs372289212 0.1607 None gnomAD-3.1.2 4.6E-05
23958 35 S/R 37 rs372289212 0.1607 None gnomAD-4.0.0 1.15428E-05
23959 36 Y/H 38 None 0.1166 None gnomAD-4.0.0 3.60097E-06
23960 37 I/M 39 rs1366447660 0.3534 None gnomAD-2.1.1 4.04E-06
23960 37 I/M 39 rs1366447660 0.3534 None gnomAD-3.1.2 1.32E-05
23960 37 I/M 39 rs1366447660 0.3534 None gnomAD-4.0.0 3.10035E-06
23960 37 I/T 39 rs568223521 0.3534 None gnomAD-2.1.1 1.43E-05
23960 37 I/T 39 rs568223521 0.3534 None gnomAD-3.1.2 2.63E-05
23960 37 I/T 39 rs568223521 0.3534 None 1000 genomes 1.99681E-04
23960 37 I/T 39 rs568223521 0.3534 None gnomAD-4.0.0 2.62771E-05
23960 37 I/V 39 rs1198927435 0.3534 None gnomAD-3.1.2 6.57E-06
23960 37 I/V 39 rs1198927435 0.3534 None gnomAD-4.0.0 2.02992E-06
23961 38 V/A 40 rs886042407 0.1004 None gnomAD-2.1.1 4.04E-06
23961 38 V/A 40 rs886042407 0.1004 None gnomAD-3.1.2 1.32E-05
23961 38 V/A 40 rs886042407 0.1004 None gnomAD-4.0.0 2.91428E-05
23961 38 V/I 40 rs397517690 0.1004 None gnomAD-2.1.1 1.69564E-04
23961 38 V/I 40 rs397517690 0.1004 None gnomAD-3.1.2 6.58E-05
23961 38 V/I 40 rs397517690 0.1004 None 1000 genomes 5.99042E-04
23961 38 V/I 40 rs397517690 0.1004 None gnomAD-4.0.0 6.94406E-05
23961 38 V/L 40 rs397517690 0.1004 None gnomAD-2.1.1 4.04E-06
23962 39 E/Q 41 rs1188261866 0.1901 None gnomAD-2.1.1 4.04E-06
23962 39 E/Q 41 rs1188261866 0.1901 None gnomAD-4.0.0 1.59284E-06
23963 40 K/N 42 rs1475718239 0.2433 None gnomAD-2.1.1 3.19E-05
23963 40 K/N 42 rs1475718239 0.2433 None gnomAD-3.1.2 6.57E-06
23963 40 K/N 42 rs1475718239 0.2433 None gnomAD-4.0.0 6.57358E-06
23963 40 K/R 42 None 0.2433 None gnomAD-4.0.0 1.59279E-06
23964 41 R/K 43 rs770679732 0.2804 None gnomAD-2.1.1 4.04E-06
23964 41 R/K 43 rs770679732 0.2804 None gnomAD-4.0.0 1.59287E-06
23965 42 D/E 44 rs772655984 0.4389 None gnomAD-2.1.1 4.04E-06
23965 42 D/E 44 rs772655984 0.4389 None gnomAD-3.1.2 6.58E-06
23965 42 D/E 44 rs772655984 0.4389 None gnomAD-4.0.0 3.71956E-06
23965 42 D/Y 44 rs1709278719 0.4389 None gnomAD-3.1.2 1.31E-05
23965 42 D/Y 44 rs1709278719 0.4389 None gnomAD-4.0.0 2.47968E-06
23966 43 L/P 50 None 0.3715 None gnomAD-4.0.0 1.59242E-06
23968 45 N/T 60 rs769320596 0.9292 None gnomAD-2.1.1 2.02E-05
23968 45 N/T 60 rs769320596 0.9292 None gnomAD-3.1.2 1.97E-05
23968 45 N/T 60 rs769320596 0.9292 None gnomAD-4.0.0 2.6655E-05
23968 45 N/Y 60 None 0.9292 None gnomAD-4.0.0 1.20032E-06
23970 47 R/Q 64 rs727503563 0.7110 None gnomAD-2.1.1 4.03E-06
23970 47 R/Q 64 rs727503563 0.7110 None gnomAD-3.1.2 6.58E-06
23970 47 R/Q 64 rs727503563 0.7110 None gnomAD-4.0.0 7.43857E-06
23970 47 R/W 64 rs748041610 0.7110 None gnomAD-2.1.1 2.87E-05
23970 47 R/W 64 rs748041610 0.7110 None gnomAD-3.1.2 2.63E-05
23970 47 R/W 64 rs748041610 0.7110 None gnomAD-4.0.0 2.10762E-05
23971 48 W/C 65 rs746880378 0.2648 None gnomAD-2.1.1 8.07E-06
23971 48 W/C 65 rs746880378 0.2648 None gnomAD-3.1.2 1.31E-05
23971 48 W/C 65 rs746880378 0.2648 None gnomAD-4.0.0 3.84543E-06
23971 48 W/L 65 None 0.2648 None gnomAD-4.0.0 1.20032E-06
23971 48 W/R 65 rs373717147 0.2648 None gnomAD-2.1.1 5.73E-05
23971 48 W/R 65 rs373717147 0.2648 None gnomAD-3.1.2 1.11763E-04
23971 48 W/R 65 rs373717147 0.2648 None gnomAD-4.0.0 2.04553E-05
23972 49 L/P 66 None 0.4293 None gnomAD-4.0.0 1.59211E-06
23972 49 L/Q 66 None 0.4293 None gnomAD-4.0.0 1.59211E-06
23973 50 K/E 67 rs1709270995 0.3859 None gnomAD-4.0.0 3.60097E-06
23973 50 K/N 67 rs758579992 0.3859 None gnomAD-2.1.1 4.03E-06
23973 50 K/N 67 rs758579992 0.3859 None gnomAD-4.0.0 1.59217E-06
23973 50 K/R 67 rs1709269471 0.3859 None gnomAD-4.0.0 1.36875E-06
23973 50 K/T 67 rs1709269471 0.3859 None gnomAD-4.0.0 2.05313E-06
23974 51 A/G 68 rs1344955826 0.1789 None gnomAD-2.1.1 4.03E-06
23977 54 S/G 72 None 0.5614 None gnomAD-4.0.0 9.60257E-06
23977 54 S/N 72 rs750632838 0.5614 None gnomAD-2.1.1 8.07E-06
23977 54 S/N 72 rs750632838 0.5614 None gnomAD-4.0.0 7.96026E-06
23978 55 N/H 75 rs1346537219 0.8785 None gnomAD-2.1.1 4.03E-06
23978 55 N/H 75 rs1346537219 0.8785 None gnomAD-4.0.0 1.59203E-06
23979 56 I/L 77 None 0.0825 None gnomAD-4.0.0 1.20032E-06
23979 56 I/V 77 rs2154171370 0.0825 None gnomAD-4.0.0 1.20032E-06
23981 58 E/D 88 rs1559434457 0.6275 None gnomAD-2.1.1 4.03E-06
23981 58 E/D 88 rs1559434457 0.6275 None gnomAD-4.0.0 1.59188E-06
23981 58 E/Q 88 rs794729246 0.6275 None gnomAD-3.1.2 6.57E-06
23981 58 E/Q 88 rs794729246 0.6275 None gnomAD-4.0.0 6.57436E-06
23982 59 N/D 89 rs199755820 0.2354 None gnomAD-2.1.1 8.23E-05
23982 59 N/D 89 rs199755820 0.2354 None gnomAD-3.1.2 7.23E-05
23982 59 N/D 89 rs199755820 0.2354 None gnomAD-4.0.0 1.05367E-04
23983 60 E/G 90 rs1299777918 0.3557 None gnomAD-3.1.2 1.97E-05
23983 60 E/G 90 rs1299777918 0.3557 None gnomAD-4.0.0 6.40763E-06
23983 60 E/K 90 None 0.3557 None gnomAD-4.0.0 1.36864E-06
23985 62 T/I 92 None 0.3356 None gnomAD-4.0.0 2.73727E-06
23985 62 T/R 92 None 0.3356 None gnomAD-4.0.0 6.84318E-07
23986 63 V/I 93 rs754373279 0.1466 None gnomAD-2.1.1 4.03E-06
23986 63 V/I 93 rs754373279 0.1466 None gnomAD-4.0.0 1.16334E-05
23986 63 V/L 93 rs754373279 0.1466 None gnomAD-2.1.1 4.03E-06
23986 63 V/L 93 rs754373279 0.1466 None gnomAD-4.0.0 4.10592E-06
23987 64 S/T 94 rs764752985 0.6176 None gnomAD-2.1.1 4.03E-06
23988 65 G/D 96 rs1320505610 0.5544 None gnomAD-3.1.2 6.58E-06
23988 65 G/D 96 rs1320505610 0.5544 None gnomAD-4.0.0 6.57514E-06
23990 67 T/R 98 rs540800852 0.5601 None gnomAD-2.1.1 4.03E-06
23990 67 T/R 98 rs540800852 0.5601 None gnomAD-4.0.0 1.59173E-06
23991 68 E/G 99 None 0.4436 None gnomAD-4.0.0 1.59171E-06
23992 69 D/A 100 rs767782229 0.7966 None gnomAD-2.1.1 4.03E-06
23992 69 D/A 100 rs767782229 0.7966 None gnomAD-4.0.0 1.36858E-06
23992 69 D/Y 100 rs775852603 0.7966 None gnomAD-2.1.1 4.03E-06
23992 69 D/Y 100 rs775852603 0.7966 None gnomAD-4.0.0 1.36858E-06
23993 70 A/V 102 rs2154171336 0.1819 None gnomAD-3.1.2 6.57E-06
23993 70 A/V 102 rs2154171336 0.1819 None gnomAD-4.0.0 6.56883E-06
23994 71 A/T 103 rs2154171332 0.2131 None gnomAD-4.0.0 2.40064E-06
23994 71 A/V 103 rs772886864 0.2131 None gnomAD-2.1.1 3.22E-05
23994 71 A/V 103 rs772886864 0.2131 None gnomAD-3.1.2 2.63E-05
23994 71 A/V 103 rs772886864 0.2131 None gnomAD-4.0.0 1.67338E-05
23995 72 Y/H 104 None 0.1273 None gnomAD-4.0.0 1.59169E-06
23996 73 E/A 105 rs769265681 0.1813 None gnomAD-2.1.1 4.03E-06
23996 73 E/A 105 rs769265681 0.1813 None gnomAD-4.0.0 1.59168E-06
23997 74 F/L 106 rs1709236478 0.1203 None gnomAD-4.0.0 4.77509E-06
23998 75 R/C 107 None 0.1768 None gnomAD-4.0.0 1.59171E-06
23998 75 R/H 107 rs10164753 0.1768 None gnomAD-2.1.1 7.63289E-02
23998 75 R/H 107 rs10164753 0.1768 None gnomAD-3.1.2 6.35507E-02
23998 75 R/H 107 rs10164753 0.1768 None 1000 genomes 9.78435E-02
23998 75 R/H 107 rs10164753 0.1768 None gnomAD-4.0.0 4.89895E-02
23998 75 R/L 107 None 0.1768 None gnomAD-4.0.0 6.84299E-07
23998 75 R/P 107 None 0.1768 None gnomAD-4.0.0 6.84299E-07
24000 77 I/S 109 rs1053083187 0.2018 None gnomAD-3.1.2 6.57E-06
24000 77 I/S 109 rs1053083187 0.2018 None gnomAD-4.0.0 6.57376E-06
24001 78 A/S 110 None 0.1089 None gnomAD-4.0.0 6.84309E-07
24001 78 A/T 110 rs180828370 0.1089 None gnomAD-2.1.1 1.75285E-04
24001 78 A/T 110 rs180828370 0.1089 None gnomAD-3.1.2 2.82783E-04
24001 78 A/T 110 rs180828370 0.1089 None 1000 genomes 3.99361E-04
24001 78 A/T 110 rs180828370 0.1089 None gnomAD-4.0.0 6.19768E-05
24003 80 N/T 112 None 0.0931 None gnomAD-4.0.0 1.59174E-06
24006 83 G/A 115 None 0.3873 None gnomAD-4.0.0 1.20032E-06
24006 83 G/D 115 rs779849818 0.3873 None gnomAD-2.1.1 4.03E-06
24008 85 I/V 117 rs1288081911 0.6042 None gnomAD-2.1.1 8.05E-06
24008 85 I/V 117 rs1288081911 0.6042 None gnomAD-4.0.0 3.18329E-06
24009 86 S/N 118 rs188711353 0.1415 None gnomAD-2.1.1 4.03E-06
24009 86 S/N 118 rs188711353 0.1415 None gnomAD-4.0.0 1.59166E-06
24009 86 S/T 118 rs188711353 0.1415 None 1000 genomes 1.99681E-04
24009 86 S/T 118 rs188711353 0.1415 None gnomAD-4.0.0 1.59166E-06
24010 87 P/Q 119 None 0.4184 None gnomAD-4.0.0 6.84288E-07
24010 87 P/T 119 None 0.4184 None gnomAD-4.0.0 6.84281E-07
24011 88 P/S 120 rs746055019 0.4524 None gnomAD-2.1.1 1.79E-05
24011 88 P/S 120 rs746055019 0.4524 None gnomAD-3.1.2 1.97E-05
24011 88 P/S 120 rs746055019 0.4524 None gnomAD-4.0.0 7.4376E-06
24013 90 E/D 122 rs529670209 0.6453 None gnomAD-2.1.1 3.93E-05
24013 90 E/D 122 rs529670209 0.6453 None gnomAD-3.1.2 1.97E-05
24013 90 E/D 122 rs529670209 0.6453 None 1000 genomes 1.99681E-04
24013 90 E/D 122 rs529670209 0.6453 None gnomAD-4.0.0 9.91653E-06
24014 91 P/L 123 None 0.3282 None gnomAD-4.0.0 1.20032E-06
24014 91 P/S 123 rs754034457 0.3282 None gnomAD-2.1.1 4.03E-06
24014 91 P/S 123 rs754034457 0.3282 None gnomAD-3.1.2 6.58E-06
24014 91 P/S 123 rs754034457 0.3282 None gnomAD-4.0.0 2.60331E-05
24016 93 D/V 125 rs1709212928 0.7745 None gnomAD-3.1.2 6.58E-06
24016 93 D/V 125 rs1709212928 0.7745 None gnomAD-4.0.0 2.47932E-06
24017 94 A/P 126 rs1459331119 0.4771 None gnomAD-2.1.1 3.19E-05
24017 94 A/P 126 rs1459331119 0.4771 None gnomAD-3.1.2 6.58E-06
24017 94 A/P 126 rs1459331119 0.4771 None gnomAD-4.0.0 6.57618E-06
24018 95 I/S 127 None 0.1794 None gnomAD-4.0.0 1.59218E-06
24018 95 I/T 127 rs753170264 0.1794 None gnomAD-2.1.1 8.05E-06
24018 95 I/T 127 rs753170264 0.1794 None gnomAD-4.0.0 1.59218E-06
24018 95 I/V 127 None 0.1794 None gnomAD-4.0.0 1.36874E-06
24020 97 C/F 130 None 0.0826 None gnomAD-4.0.0 4.10624E-06
24021 98 R/K 131 rs1709204833 0.7248 None gnomAD-4.0.0 1.59209E-06
24022 99 D/N 132 rs767886519 0.5585 None gnomAD-2.1.1 3.22E-05