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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
32896 1 P/L 1 rs1335232513 0.4559 None gnomAD-3.1.2 6.57E-06
32896 1 P/L 1 rs1335232513 0.4559 None gnomAD-4.0.0 4.34111E-06
32897 2 P/R 2 None 0.1078 None gnomAD-4.0.0 1.59389E-06
32899 4 P/T 4 rs199689531 0.2811 None gnomAD-3.1.2 1.97E-05
32899 4 P/T 4 rs199689531 0.2811 None gnomAD-4.0.0 1.9713E-05
32900 5 P/R 5 rs1348881134 0.1450 None gnomAD-3.1.2 6.57E-06
32900 5 P/R 5 rs1348881134 0.1450 None gnomAD-4.0.0 6.57186E-06
32900 5 P/S 5 rs1193416365 0.1450 None gnomAD-2.1.1 4.02E-06
32900 5 P/S 5 rs1193416365 0.1450 None gnomAD-4.0.0 1.59338E-06
32901 6 S/G 6 None 0.4301 None gnomAD-4.0.0 6.84378E-07
32901 6 S/I 6 None 0.4301 None gnomAD-4.0.0 3.60097E-06
32901 6 S/R 6 rs1450732956 0.4301 None gnomAD-2.1.1 4.02E-06
32901 6 S/R 6 rs1450732956 0.4301 None gnomAD-4.0.0 6.84378E-07
32903 8 P/S 8 None 0.3784 None gnomAD-4.0.0 1.59183E-06
32904 9 P/S 9 rs1233228834 0.1522 None gnomAD-3.1.2 6.57E-06
32904 9 P/S 9 rs1233228834 0.1522 None gnomAD-4.0.0 6.57168E-06
32905 10 E/D 11 rs768468641 0.5685 None gnomAD-2.1.1 4.02E-06
32905 10 E/D 11 rs768468641 0.5685 None gnomAD-3.1.2 6.57E-06
32905 10 E/D 11 rs768468641 0.5685 None gnomAD-4.0.0 6.84273E-07
32905 10 E/G 11 None 0.5685 None gnomAD-4.0.0 1.59159E-06
32905 10 E/K 11 None 0.5685 None gnomAD-2.1.1 1.21E-05
32905 10 E/K 11 None 0.5685 None gnomAD-3.1.2 3.29E-05
32905 10 E/K 11 None 0.5685 None gnomAD-4.0.0 1.42541E-05
32905 10 E/Q 11 rs763344306 0.5685 None gnomAD-2.1.1 1.43E-05
32905 10 E/Q 11 rs763344306 0.5685 None gnomAD-3.1.2 1.31E-05
32905 10 E/Q 11 rs763344306 0.5685 None gnomAD-4.0.0 2.47897E-06
32906 11 V/I 12 rs182683829 0.3230 None gnomAD-2.1.1 5.06947E-04
32906 11 V/I 12 rs182683829 0.3230 None gnomAD-3.1.2 2.89158E-04
32906 11 V/I 12 rs182683829 0.3230 None gnomAD-4.0.0 3.46404E-04
32907 12 L/F 13 rs774926230 0.4357 None gnomAD-2.1.1 8.04E-06
32907 12 L/F 13 rs774926230 0.4357 None gnomAD-3.1.2 1.31E-05
32907 12 L/F 13 rs774926230 0.4357 None gnomAD-4.0.0 4.33797E-06
32907 12 L/V 13 rs774926230 0.4357 None gnomAD-2.1.1 8.04E-06
32907 12 L/V 13 rs774926230 0.4357 None gnomAD-4.0.0 2.73694E-06
32908 13 D/H 14 None 0.8086 None gnomAD-4.0.0 6.84248E-07
32908 13 D/N 14 rs267599023 0.8086 None gnomAD-2.1.1 1.21E-05
32908 13 D/N 14 rs267599023 0.8086 None gnomAD-4.0.0 9.57947E-06
32908 13 D/Y 14 None 0.8086 None gnomAD-4.0.0 6.84248E-07
32909 14 V/A 15 rs368877793 0.2389 None gnomAD-2.1.1 1.46317E-04
32909 14 V/A 15 rs368877793 0.2389 None gnomAD-3.1.2 2.03658E-04
32909 14 V/A 15 rs368877793 0.2389 None gnomAD-4.0.0 2.69567E-04
32909 14 V/I 15 rs1161873728 0.2389 None gnomAD-2.1.1 3.18E-05
32909 14 V/I 15 rs1161873728 0.2389 None gnomAD-4.0.0 3.18283E-06
32911 16 K/T 17 None 0.5463 None gnomAD-4.0.0 1.59138E-06
32912 17 S/G 18 None 0.3365 None gnomAD-4.0.0 1.20032E-06
32912 17 S/N 18 None 0.3365 None gnomAD-4.0.0 1.20032E-06
32912 17 S/R 18 None 0.3365 None gnomAD-4.0.0 1.20032E-06
32913 18 S/F 19 None 0.1906 None gnomAD-4.0.0 1.36845E-06
32913 18 S/Y 19 rs749035234 0.1906 None gnomAD-2.1.1 4.02E-06
32913 18 S/Y 19 rs749035234 0.1906 None gnomAD-4.0.0 6.84224E-07
32914 19 V/L 20 None 0.1020 None gnomAD-4.0.0 3.60097E-06
32915 20 S/C 21 rs760917372 0.1900 None gnomAD-2.1.1 4.02E-06
32915 20 S/C 21 rs760917372 0.1900 None gnomAD-4.0.0 1.36843E-06
32915 20 S/G 21 rs760917372 0.1900 None gnomAD-2.1.1 8.04E-06
32915 20 S/G 21 rs760917372 0.1900 None gnomAD-3.1.2 6.57E-06
32915 20 S/G 21 rs760917372 0.1900 None gnomAD-4.0.0 8.67571E-06
32915 20 S/R 21 None 0.1900 None gnomAD-4.0.0 3.60097E-06
32916 21 L/F 22 None 0.1024 None gnomAD-4.0.0 2.05265E-06
32917 22 S/F 23 rs561932256 0.2181 None gnomAD-2.1.1 2.81E-05
32917 22 S/F 23 rs561932256 0.2181 None gnomAD-3.1.2 3.94E-05
32917 22 S/F 23 rs561932256 0.2181 None 1000 genomes 1.99681E-04
32917 22 S/F 23 rs561932256 0.2181 None gnomAD-4.0.0 1.73505E-05
32918 23 W/C 24 rs1428429290 0.1482 None gnomAD-2.1.1 4.02E-06
32919 24 S/C 25 None 0.4277 None gnomAD-4.0.0 1.59129E-06
32919 24 S/F 25 None 0.4277 None gnomAD-4.0.0 1.59129E-06
32920 25 R/Q 26 rs752015224 0.6513 None gnomAD-2.1.1 6.42E-05
32920 25 R/Q 26 rs752015224 0.6513 None gnomAD-3.1.2 3.29E-05
32920 25 R/Q 26 rs752015224 0.6513 None gnomAD-4.0.0 3.84243E-05
32920 25 R/W 26 rs755031142 0.6513 None gnomAD-2.1.1 4.02E-06
32920 25 R/W 26 rs755031142 0.6513 None gnomAD-4.0.0 6.15791E-06
32923 28 D/G 29 None 0.4839 None gnomAD-4.0.0 6.84209E-07
32925 30 G/D 31 rs763528740 0.3437 None gnomAD-2.1.1 1.21E-05
32925 30 G/D 31 rs763528740 0.3437 None gnomAD-3.1.2 1.97E-05
32925 30 G/D 31 rs763528740 0.3437 None gnomAD-4.0.0 6.81688E-06
32926 31 G/C 32 rs1693158118 0.6349 None gnomAD-4.0.0 2.40064E-06
32926 31 G/D 32 None 0.6349 None gnomAD-4.0.0 1.59128E-06
32927 32 S/C 33 rs1559083914 0.2127 None gnomAD-2.1.1 4.02E-06
32927 32 S/C 33 rs1559083914 0.2127 None gnomAD-4.0.0 1.36843E-06
32928 33 R/G 34 rs1490449415 0.7179 None gnomAD-2.1.1 4.02E-06
32928 33 R/G 34 rs1490449415 0.7179 None gnomAD-3.1.2 1.31E-05
32928 33 R/G 34 rs1490449415 0.7179 None gnomAD-4.0.0 3.8433E-06
32929 34 V/A 35 None 0.2040 None gnomAD-4.0.0 1.20032E-06
32929 34 V/I 35 rs2154139645 0.2040 None gnomAD-4.0.0 1.20032E-06
32930 35 T/K 36 rs796822435 0.2632 None gnomAD-2.1.1 4.02E-06
32930 35 T/K 36 rs796822435 0.2632 None gnomAD-4.0.0 1.5913E-06
32931 36 G/S 37 rs765688561 0.0919 None gnomAD-2.1.1 3.21E-05
32931 36 G/S 37 rs765688561 0.0919 None gnomAD-3.1.2 6.57E-06
32931 36 G/S 37 rs765688561 0.0919 None gnomAD-4.0.0 8.67604E-06
32932 37 Y/S 38 None 0.1096 None gnomAD-4.0.0 1.20033E-06
32933 38 Y/H 39 rs775150547 0.1529 None gnomAD-2.1.1 1.07E-05
32933 38 Y/H 39 rs775150547 0.1529 None gnomAD-3.1.2 3.29E-05
32933 38 Y/H 39 rs775150547 0.1529 None gnomAD-4.0.0 7.68699E-06
32934 39 I/L 40 rs915727477 0.0979 None gnomAD-3.1.2 6.57E-06
32934 39 I/L 40 rs915727477 0.0979 None gnomAD-4.0.0 6.57315E-06
32934 39 I/M 40 rs1273309840 0.0979 None gnomAD-2.1.1 4.02E-06
32934 39 I/M 40 rs1273309840 0.0979 None gnomAD-4.0.0 6.84226E-07
32934 39 I/V 40 rs915727477 0.0979 None gnomAD-4.0.0 8.40229E-06
32935 40 E/G 41 rs879037584 0.1718 None gnomAD-4.0.0 3.18265E-06
32935 40 E/K 41 rs1407053984 0.1718 None gnomAD-2.1.1 4.02E-06
32935 40 E/K 41 rs1407053984 0.1718 None gnomAD-3.1.2 1.97E-05
32935 40 E/K 41 rs1407053984 0.1718 None gnomAD-4.0.0 1.11555E-05
32936 41 R/C 42 rs764276622 0.3456 None gnomAD-2.1.1 2.01E-05
32936 41 R/C 42 rs764276622 0.3456 None gnomAD-4.0.0 2.12111E-05
32936 41 R/H 42 rs774296358 0.3456 None gnomAD-2.1.1 5E-05
32936 41 R/H 42 rs774296358 0.3456 None gnomAD-3.1.2 9.21E-05
32936 41 R/H 42 rs774296358 0.3456 None gnomAD-4.0.0 3.84239E-05
32936 41 R/S 42 None 0.3456 None gnomAD-4.0.0 6.84229E-07
32937 42 K/E 43 rs200544701 0.1296 None gnomAD-2.1.1 1.96287E-04
32937 42 K/E 43 rs200544701 0.1296 None gnomAD-3.1.2 1.05169E-04
32937 42 K/E 43 rs200544701 0.1296 None gnomAD-4.0.0 9.17171E-05
32938 43 E/Q 44 rs1170456580 0.2844 None gnomAD-2.1.1 4.02E-06
32938 43 E/Q 44 rs1170456580 0.2844 None gnomAD-4.0.0 1.5913E-06
32939 44 T/I 50 rs1559083229 0.2942 None gnomAD-2.1.1 4.02E-06
32939 44 T/I 50 rs1559083229 0.2942 None gnomAD-4.0.0 2.73686E-06
32939 44 T/R 50 None 0.2942 None gnomAD-4.0.0 6.84215E-07
32940 45 S/C 54 None 0.5315 None gnomAD-4.0.0 1.20032E-06
32942 47 D/E 63 rs190967471 1.0450 None gnomAD-2.1.1 9.28E-05
32942 47 D/E 63 rs190967471 1.0450 None gnomAD-3.1.2 1.97231E-04
32942 47 D/E 63 rs190967471 1.0450 None 1000 genomes 3.99361E-04
32942 47 D/E 63 rs190967471 1.0450 None gnomAD-4.0.0 3.59412E-05
32942 47 D/N 63 None 1.0450 None gnomAD-4.0.0 3.18261E-06
32945 50 V/L 66 None 0.4233 None gnomAD-4.0.0 1.20032E-06
32946 51 R/G 67 None 0.3130 None gnomAD-4.0.0 1.20032E-06
32950 55 T/I 72 None 0.7823 None gnomAD-4.0.0 1.59131E-06
32952 57 I/F 77 rs977201230 0.0884 None gnomAD-2.1.1 8.04E-06
32952 57 I/F 77 rs977201230 0.0884 None gnomAD-4.0.0 4.77394E-06
32953 58 T/A 83 rs1179770836 0.6909 None gnomAD-2.1.1 4.02E-06
32953 58 T/A 83 rs1179770836 0.6909 None gnomAD-3.1.2 6.57E-06
32953 58 T/A 83 rs1179770836 0.6909 None gnomAD-4.0.0 7.43657E-06
32953 58 T/I 83 None 0.6909 None gnomAD-4.0.0 1.20032E-06
32954 59 T/I 88 rs372126622 0.4783 None gnomAD-2.1.1 4.02E-05
32954 59 T/I 88 rs372126622 0.4783 None gnomAD-3.1.2 1.97E-05
32954 59 T/I 88 rs372126622 0.4783 None gnomAD-4.0.0 4.02813E-05
32955 60 T/A 89 None 0.2874 None gnomAD-4.0.0 2.40064E-06
32956 61 M/K 90 None 0.6112 None gnomAD-4.0.0 6.8422E-07
32956 61 M/R 90 None 0.6112 None gnomAD-4.0.0 1.36844E-06
32956 61 M/T 90 rs727504962 0.6112 None gnomAD-3.1.2 6.57E-06
32956 61 M/T 90 rs727504962 0.6112 None gnomAD-4.0.0 9.2957E-06
32956 61 M/V 90 rs727503538 0.6112 None gnomAD-2.1.1 1.43E-05
32956 61 M/V 90 rs727503538 0.6112 None gnomAD-3.1.2 3.94E-05
32956 61 M/V 90 rs727503538 0.6112 None gnomAD-4.0.0 1.85901E-05
32957 62 Y/C 91 rs545990990 0.3527 None gnomAD-3.1.2 6.57E-06
32957 62 Y/C 91 rs545990990 0.3527 None 1000 genomes 1.99681E-04
32957 62 Y/C 91 rs545990990 0.3527 None gnomAD-4.0.0 6.56814E-06
32957 62 Y/H 91 rs1267513093 0.3527 None gnomAD-2.1.1 3.19E-05
32957 62 Y/H 91 rs1267513093 0.3527 None gnomAD-3.1.2 6.57E-06
32957 62 Y/H 91 rs1267513093 0.3527 None gnomAD-4.0.0 6.57341E-06
32957 62 Y/N 91 None 0.3527 None gnomAD-4.0.0 1.20032E-06
32958 63 T/I 92 rs1441902743 0.3591 None gnomAD-2.1.1 4.02E-06
32958 63 T/I 92 rs1441902743 0.3591 None gnomAD-4.0.0 1.36844E-06
32958 63 T/S 92 rs1441902743 0.3591 None gnomAD-3.1.2 6.58E-06
32958 63 T/S 92 rs1441902743 0.3591 None gnomAD-4.0.0 6.8422E-07
32959 64 V/L 93 None 0.0968 None gnomAD-4.0.0 8.40225E-06
32961 66 G/E 96 rs1225559660 0.5429 None gnomAD-2.1.1 4.02E-06
32961 66 G/E 96 rs1225559660 0.5429 None gnomAD-4.0.0 3.18268E-06
32963 68 V/A 98 rs762929989 0.5069 None gnomAD-2.1.1 4.02E-06
32963 68 V/A 98 rs762929989 0.5069 None gnomAD-4.0.0 1.32035E-05
32963 68 V/I 98 rs745608832 0.5069 None gnomAD-4.0.0 1.36845E-06
32964 69 P/A 99 rs750948702 0.4156 None gnomAD-4.0.0 1.16318E-05
32964 69 P/S 99 rs750948702 0.4156 None gnomAD-2.1.1 8.04E-06
32964 69 P/S 99 rs750948702 0.4156 None gnomAD-4.0.0 2.7369E-06
32965 70 D/G 100 rs767147750 0.8553 None gnomAD-2.1.1 4.02E-06
32965 70 D/G 100 rs767147750 0.8553 None gnomAD-4.0.0 1.59137E-06
32965 70 D/H 100 rs186405108 0.8553 None gnomAD-2.1.1 2.10666E-04
32965 70 D/H 100 rs186405108 0.8553 None gnomAD-3.1.2 2.03754E-04
32965 70 D/H 100 rs186405108 0.8553 None gnomAD-4.0.0 3.56337E-04
32965 70 D/N 100 rs186405108 0.8553 None gnomAD-2.1.1 5.71E-05
32965 70 D/N 100 rs186405108 0.8553 None gnomAD-3.1.2 1.70891E-04
32965 70 D/N 100 rs186405108 0.8553 None 1000 genomes 1.99681E-04
32965 70 D/N 100 rs186405108 0.8553 None gnomAD-4.0.0 3.34623E-05
32966 71 A/S 102 None 0.1461 None gnomAD-4.0.0 6.84234E-07
32966 71 A/T 102 rs1338187239 0.1461 None gnomAD-2.1.1 4.02E-06
32966 71 A/T 102 rs1338187239 0.1461 None gnomAD-4.0.0 2.0527E-06
32966 71 A/V 102 rs759090913 0.1461 None gnomAD-2.1.1 4.02E-06
32967 72 E/K 103 rs540132942 0.2651 None gnomAD-2.1.1 1.21E-05
32967 72 E/K 103 rs540132942 0.2651 None gnomAD-3.1.2 1.97E-05
32967 72 E/K 103 rs540132942 0.2651 None 1000 genomes 1.99681E-04
32967 72 E/K 103 rs540132942 0.2651 None gnomAD-4.0.0 7.68559E-06
32968 73 Y/C 104 rs1575348383 0.1230 None gnomAD-4.0.0 1.59137E-06
32969 74 Q/H 105 rs1018386868 0.1944 None gnomAD-2.1.1 8.04E-06
32969 74 Q/H 105 rs1018386868 0.1944 None gnomAD-3.1.2 6.57E-06
32969 74 Q/H 105 rs1018386868 0.1944 None gnomAD-4.0.0 1.42531E-05
32969 74 Q/K 105 None 0.1944 None gnomAD-4.0.0 3.18276E-06
32969 74 Q/R 105 rs727504185 0.1944 None gnomAD-2.1.1 4.02E-06
32969 74 Q/R 105 rs727504185 0.1944 None gnomAD-4.0.0 1.36846E-06
32970 75 F/L 106 rs574423649 0.1170 None gnomAD-2.1.1 2.01E-05
32970 75 F/L 106 rs574423649 0.1170 None gnomAD-3.1.2 6.57E-06
32970 75 F/L 106 rs574423649 0.1170 None 1000 genomes 1.99681E-04
32970 75 F/L 106 rs574423649 0.1170 None gnomAD-4.0.0 5.57701E-06
32971 76 R/C 107 rs765870426 0.1450 None gnomAD-2.1.1 8.04E-06
32971 76 R/C 107 rs765870426 0.1450 None gnomAD-4.0.0 5.47395E-06
32971 76 R/H 107 rs4894028 0.1450 None gnomAD-2.1.1 6.94271E-02
32971 76 R/H 107 rs4894028 0.1450 None gnomAD-3.1.2 4.45315E-02
32971 76 R/H 107 rs4894028 0.1450 None 1000 genomes 7.6877E-02
32971 76 R/H 107 rs4894028 0.1450 None gnomAD-4.0.0 4.52256E-02
32971 76 R/S 107 None 0.1450 None gnomAD-4.0.0 6.84244E-07
32972 77 I/T 108 None 0.0710 None gnomAD-4.0.0 1.5914E-06
32972 77 I/V 108 None 0.0710 None gnomAD-4.0.0 1.36846E-06
32973 78 I/S 109 None 0.1584 None gnomAD-4.0.0 1.59141E-06
32973 78 I/V 109 rs773080115 0.1584 None gnomAD-2.1.1 4.02E-06
32973 78 I/V 109 rs773080115 0.1584 None gnomAD-3.1.2 1.31E-05
32973 78 I/V 109 rs773080115 0.1584 None gnomAD-4.0.0 3.09852E-06
32974 79 A/T 110 rs374454949 0.0854 None gnomAD-2.1.1 4.02E-05
32974 79 A/T 110 rs374454949 0.0854 None gnomAD-3.1.2 1.97E-05
32974 79 A/T 110 rs374454949 0.0854 None 1000 genomes 1.99681E-04
32974 79 A/T 110 rs374454949 0.0854 None gnomAD-4.0.0 3.28439E-05
32975 80 Q/L 111 rs776743138 0.2709 None gnomAD-2.1.1 4.02E-05
32975 80 Q/L 111 rs776743138 0.2709 None gnomAD-3.1.2 1.31E-05
32975 80 Q/L 111 rs776743138 0.2709 None gnomAD-4.0.0 2.7267E-05
32976 81 N/K 112 rs768961283 0.0881 None gnomAD-2.1.1 4.02E-06
32976 81 N/K 112 rs768961283 0.0881 None gnomAD-4.0.0 1.59152E-06
32978 83 V/A 114 rs1190695147 0.5939 None gnomAD-3.1.2 6.57E-06
32978 83 V/A 114 rs1190695147 0.5939 None gnomAD-4.0.0 3.71836E-06
32978 83 V/D 114 None 0.5939 None gnomAD-4.0.0 3.42129E-06
32980 85 L/P 117 None 0.4445 None gnomAD-4.0.0 4.77789E-06
32981 86 S/C 118 rs1316479565 0.1106 None gnomAD-2.1.1 4.03E-06
32981 86 S/C 118 rs1316479565 0.1106 None gnomAD-4.0.0 1.59265E-06
32981 86 S/G 118 None 0.1106 None gnomAD-4.0.0 1.59265E-06
32982 87 E/Q 119 None 0.7039 None gnomAD-4.0.0 1.59312E-06
32984 89 S/R 121 None 0.1156 None gnomAD-4.0.0 6.84894E-07
32985 90 P/H 122 rs1387380794 0.3294 None gnomAD-2.1.1 4.03E-06
32985 90 P/H 122 rs1387380794 0.3294 None gnomAD-3.1.2 2.63E-05
32985 90 P/H 122 rs1387380794 0.3294 None gnomAD-4.0.0 1.30277E-05
32987 92 S/F 124 rs746380940 0.1265 None gnomAD-2.1.1 8.96E-05
32987 92 S/F 124 rs746380940 0.1265 None gnomAD-3.1.2 1.44585E-04
32987 92 S/F 124 rs746380940 0.1265 None gnomAD-4.0.0 1.29149E-04
32987 92 S/P 124 rs758494581 0.1265 None gnomAD-2.1.1 8.96E-05
32987 92 S/P 124 rs758494581 0.1265 None gnomAD-3.1.2 1.44549E-04
32987 92 S/P 124 rs758494581 0.1265 None gnomAD-4.0.0 1.29121E-04
32988 93 E/D 125 rs1358375083 0.7109 None gnomAD-3.1.2 6.57E-06
32988 93 E/D 125 rs1358375083 0.7109 None gnomAD-4.0.0 6.57108E-06
32989 94 P/A 126 rs779521662 0.3688 None gnomAD-2.1.1 3.18E-05
32989 94 P/A 126 rs779521662 0.3688 None gnomAD-3.1.2 6.57E-06
32989 94 P/A 126 rs779521662 0.3688 None gnomAD-4.0.0 6.57384E-06
32989 94 P/L 126 rs757583081 0.3688 None gnomAD-2.1.1 1.21E-05
32989 94 P/L 126 rs757583081 0.3688 None gnomAD-4.0.0 2.95234E-05
32989 94 P/R 126 None 0.3688 None gnomAD-4.0.0 6.86591E-07
32989 94 P/S 126 rs779521662 0.3688 None gnomAD-2.1.1 4.04E-06
32989 94 P/S 126 rs779521662 0.3688 None gnomAD-3.1.2 1.31E-05
32989 94 P/S 126 rs779521662 0.3688 None gnomAD-4.0.0 3.86311E-06
32991 96 V/I 129 rs1416459734 0.3413 None gnomAD-4.0.0 3.2118E-06
32992 97 C/S 130 rs754280430 0.0874 None gnomAD-4.0.0 1.60819E-06
32994 99 D/E 132 None 0.5501 None gnomAD-4.0.0 1.20032E-06