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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 90 100
V P G A P D K P T V S S V T R N S M T V N W E E P E Y D G G S P V T G Y W L E M K D T T S K R W K R V N R D P I K A M T L G V S Y K V T G L I E G S D Y Q F R V Y A I N A A G V G P A S L P S D P A T A R D

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
18884 1 V/I 1 None 0.5364 None gnomAD-4.0.0 7.20496E-07
18885 2 P/R 2 rs780890752 0.1486 None gnomAD-2.1.1 1.02E-05
18885 2 P/R 2 rs780890752 0.1486 None gnomAD-4.0.0 7.89693E-06
18885 2 P/S 2 rs747971851 0.1486 None gnomAD-2.1.1 1.03E-05
18885 2 P/S 2 rs747971851 0.1486 None gnomAD-3.1.2 6.6E-06
18885 2 P/S 2 rs747971851 0.1486 None gnomAD-4.0.0 2.07683E-05
18886 3 G/E 3 rs1421176024 0.2196 None gnomAD-2.1.1 3.19E-05
18886 3 G/R 3 None 0.2196 None gnomAD-4.0.0 7.16025E-07
18888 5 P/S 5 rs755206756 0.1500 None gnomAD-2.1.1 1.44E-05
18888 5 P/S 5 rs755206756 0.1500 None gnomAD-4.0.0 1.41814E-06
18888 5 P/T 5 None 0.1500 None gnomAD-4.0.0 7.09071E-07
18890 7 K/T 7 rs2052566882 0.3581 None gnomAD-4.0.0 5.62273E-06
18892 9 T/A 11 rs780258242 0.5718 None gnomAD-2.1.1 4.52E-06
18892 9 T/A 11 rs780258242 0.5718 None gnomAD-4.0.0 7.00877E-07
18892 9 T/I 11 None 0.5718 None gnomAD-4.0.0 6.99567E-07
18892 9 T/K 11 rs1405285641 0.5718 None gnomAD-3.1.2 6.58E-06
18892 9 T/K 11 rs1405285641 0.5718 None gnomAD-4.0.0 1.26472E-06
18892 9 T/P 11 rs780258242 0.5718 None gnomAD-2.1.1 1.81E-05
18892 9 T/P 11 rs780258242 0.5718 None gnomAD-3.1.2 1.32E-05
18892 9 T/P 11 rs780258242 0.5718 None gnomAD-4.0.0 6.33354E-06
18892 9 T/R 11 rs1405285641 0.5718 None gnomAD-2.1.1 3.19E-05
18892 9 T/R 11 rs1405285641 0.5718 None gnomAD-4.0.0 5.59653E-06
18893 10 V/A 12 rs758414408 0.3490 None gnomAD-2.1.1 4.44E-06
18893 10 V/A 12 rs758414408 0.3490 None gnomAD-4.0.0 1.67082E-06
18895 12 S/C 14 rs1289916968 0.5857 None gnomAD-2.1.1 1.31E-05
18895 12 S/C 14 rs1289916968 0.5857 None gnomAD-3.1.2 1.97E-05
18895 12 S/C 14 rs1289916968 0.5857 None gnomAD-4.0.0 6.29312E-06
18895 12 S/G 14 rs1289916968 0.5857 None gnomAD-2.1.1 4.36E-06
18895 12 S/G 14 rs1289916968 0.5857 None gnomAD-4.0.0 1.39178E-06
18895 12 S/I 14 rs2052561080 0.5857 None gnomAD-4.0.0 1.65177E-06
18895 12 S/R 14 rs375403059 0.5857 None gnomAD-2.1.1 4.33E-06
18895 12 S/R 14 rs375403059 0.5857 None gnomAD-4.0.0 6.95199E-07
18896 13 V/M 15 rs370629962 0.3862 None gnomAD-2.1.1 1.0294E-04
18896 13 V/M 15 rs370629962 0.3862 None gnomAD-3.1.2 3.29E-05
18896 13 V/M 15 rs370629962 0.3862 None gnomAD-4.0.0 5.96478E-05
18898 15 R/C 17 rs893885472 0.4668 None gnomAD-2.1.1 1.12E-05
18898 15 R/C 17 rs893885472 0.4668 None gnomAD-3.1.2 6.58E-06
18898 15 R/C 17 rs893885472 0.4668 None gnomAD-4.0.0 6.88541E-06
18898 15 R/G 17 None 0.4668 None gnomAD-4.0.0 6.91713E-07
18898 15 R/H 17 rs572453785 0.4668 None gnomAD-2.1.1 5.22E-05
18898 15 R/H 17 rs572453785 0.4668 None gnomAD-3.1.2 1.11922E-04
18898 15 R/H 17 rs572453785 0.4668 None 1000 genomes 1.99681E-04
18898 15 R/H 17 rs572453785 0.4668 None gnomAD-4.0.0 8.25614E-05
18900 17 S/C 19 rs1256105535 0.1383 None gnomAD-4.0.0 3.60097E-06
18901 18 M/I 20 rs761136728 0.0860 None gnomAD-2.1.1 4.13E-06
18901 18 M/I 20 rs761136728 0.0860 None gnomAD-4.0.0 3.21836E-06
18901 18 M/L 20 None 0.0860 None gnomAD-4.0.0 1.60873E-06
18902 19 T/I 21 None 0.2037 None gnomAD-4.0.0 1.20033E-06
18903 20 V/L 22 None 0.0852 None gnomAD-4.0.0 3.20077E-06
18904 21 N/K 23 None 0.2529 None gnomAD-4.0.0 1.5988E-06
18905 22 W/R 24 rs1488040834 0.1443 None gnomAD-2.1.1 4.1E-06
18905 22 W/R 24 rs1488040834 0.1443 None gnomAD-4.0.0 3.19706E-06
18906 23 E/K 25 rs1263513465 0.7417 None gnomAD-2.1.1 4.1E-06
18906 23 E/K 25 rs1263513465 0.7417 None gnomAD-4.0.0 6.16957E-06
18907 24 E/D 26 rs1238984956 0.4994 None gnomAD-2.1.1 3.19E-05
18907 24 E/D 26 rs1238984956 0.4994 None gnomAD-3.1.2 6.58E-06
18907 24 E/D 26 rs1238984956 0.4994 None gnomAD-4.0.0 6.57886E-06
18907 24 E/G 26 rs1184443568 0.4994 None gnomAD-3.1.2 1.32E-05
18907 24 E/G 26 rs1184443568 0.4994 None gnomAD-4.0.0 1.79982E-05
18907 24 E/K 26 None 0.4994 None gnomAD-4.0.0 1.59715E-06
18908 25 P/R 27 rs1364724756 0.1946 None gnomAD-3.1.2 6.58E-06
18908 25 P/R 27 rs1364724756 0.1946 None gnomAD-4.0.0 2.03044E-06
18909 26 E/K 28 rs1224434103 1.1377 None gnomAD-2.1.1 4.09E-06
18909 26 E/K 28 rs1224434103 1.1377 None gnomAD-4.0.0 4.11078E-06
18910 27 Y/H 29 None 0.6599 None gnomAD-4.0.0 1.59601E-06
18910 27 Y/N 29 None 0.6599 None gnomAD-4.0.0 1.59601E-06
18911 28 D/E 30 rs1225577870 0.2825 None gnomAD-2.1.1 4.08E-06
18911 28 D/E 30 rs1225577870 0.2825 None gnomAD-4.0.0 6.84891E-07
18911 28 D/G 30 rs1296392570 0.2825 None gnomAD-2.1.1 4.08E-06
18911 28 D/G 30 rs1296392570 0.2825 None gnomAD-3.1.2 6.58E-06
18911 28 D/G 30 rs1296392570 0.2825 None gnomAD-4.0.0 4.34222E-06
18911 28 D/H 30 None 0.2825 None gnomAD-4.0.0 1.20034E-06
18913 30 G/D 32 rs535913207 0.6383 None gnomAD-2.1.1 4.08E-06
18913 30 G/D 32 rs535913207 0.6383 None gnomAD-3.1.2 6.58E-06
18913 30 G/D 32 rs535913207 0.6383 None 1000 genomes 1.99681E-04
18913 30 G/D 32 rs535913207 0.6383 None gnomAD-4.0.0 9.13507E-06
18915 32 P/L 34 rs2052547885 0.6682 None gnomAD-3.1.2 6.58E-06
18915 32 P/L 34 rs2052547885 0.6682 None gnomAD-4.0.0 6.58007E-06
18916 33 V/E 35 rs1296926879 0.2083 None gnomAD-2.1.1 1.44E-05
18916 33 V/E 35 rs1296926879 0.2083 None gnomAD-3.1.2 6.58E-06
18916 33 V/E 35 rs1296926879 0.2083 None gnomAD-4.0.0 9.30197E-06
18917 34 T/K 36 rs370348484 0.4517 None gnomAD-4.0.0 1.59383E-06
18918 35 G/A 37 rs772925562 0.0856 None gnomAD-2.1.1 4.07E-06
18918 35 G/A 37 rs772925562 0.0856 None gnomAD-4.0.0 2.73864E-06
18918 35 G/W 37 rs762541850 0.0856 None gnomAD-2.1.1 4.07E-06
18918 35 G/W 37 rs762541850 0.0856 None gnomAD-4.0.0 1.5938E-06
18920 37 W/R 39 rs1425662810 0.1873 None gnomAD-2.1.1 4.06E-06
18920 37 W/R 39 rs1425662810 0.1873 None gnomAD-4.0.0 1.59347E-06
18921 38 L/P 40 rs2052542764 0.0815 None gnomAD-3.1.2 6.58E-06
18921 38 L/P 40 rs2052542764 0.0815 None gnomAD-4.0.0 3.0454E-06
18922 39 E/D 41 rs776653576 0.1158 None gnomAD-4.0.0 1.59327E-06
18922 39 E/G 41 rs761707154 0.1158 None gnomAD-4.0.0 7.65409E-05
18923 40 M/I 42 rs2052539328 0.1805 None gnomAD-3.1.2 6.58E-06
18923 40 M/I 42 rs2052539328 0.1805 None gnomAD-4.0.0 6.09062E-06
18927 44 T/A 54 rs937956129 0.6919 None gnomAD-2.1.1 4.05E-06
18927 44 T/A 54 rs937956129 0.6919 None gnomAD-4.0.0 1.36903E-06
18927 44 T/N 54 rs1432586088 0.6919 None gnomAD-2.1.1 4.05E-06
18927 44 T/N 54 rs1432586088 0.6919 None gnomAD-4.0.0 1.5929E-06
18929 46 K/E 63 None 1.0661 None gnomAD-4.0.0 3.18554E-06
18930 47 R/G 64 rs727503595 0.7721 None gnomAD-4.0.0 6.84471E-06
18930 47 R/K 64 rs746833235 0.7721 None gnomAD-2.1.1 4.04E-06
18931 48 W/R 65 None 0.2247 None gnomAD-4.0.0 2.40065E-06
18931 48 W/S 65 None 0.2247 None gnomAD-4.0.0 1.20033E-06
18933 50 R/G 67 rs780239769 0.3601 None gnomAD-4.0.0 3.42228E-06
18933 50 R/I 67 None 0.3601 None gnomAD-4.0.0 1.59263E-06
18934 51 V/L 68 rs772344497 0.2083 None gnomAD-2.1.1 1.43E-05
18934 51 V/L 68 rs772344497 0.2083 None gnomAD-3.1.2 4.61E-05
18934 51 V/L 68 rs772344497 0.2083 None gnomAD-4.0.0 1.28221E-05
18936 53 R/Q 70 rs745914315 0.8411 None gnomAD-2.1.1 3.58E-05
18936 53 R/Q 70 rs745914315 0.8411 None gnomAD-3.1.2 1.97E-05
18936 53 R/Q 70 rs745914315 0.8411 None gnomAD-4.0.0 2.47986E-05
18937 54 D/G 72 None 0.6012 None gnomAD-4.0.0 1.20032E-06
18937 54 D/H 72 rs779010234 0.6012 None gnomAD-2.1.1 4.04E-06
18937 54 D/H 72 rs779010234 0.6012 None gnomAD-4.0.0 1.59249E-06
18938 55 P/S 75 None 0.3088 None gnomAD-4.0.0 6.84429E-07
18939 56 I/M 77 rs757376568 0.1220 None gnomAD-4.0.0 4.77715E-06
18939 56 I/N 77 None 0.1220 None gnomAD-4.0.0 6.00161E-06
18940 57 K/E 83 None 0.8926 None gnomAD-4.0.0 1.20032E-06
18940 57 K/N 83 None 0.8926 None gnomAD-4.0.0 1.20032E-06
18941 58 A/V 84 rs754264431 0.3403 None gnomAD-2.1.1 4.3E-05
18941 58 A/V 84 rs754264431 0.3403 None gnomAD-3.1.2 3.29E-05
18941 58 A/V 84 rs754264431 0.3403 None gnomAD-4.0.0 2.85171E-05
18942 59 M/T 85 None 0.7155 None gnomAD-4.0.0 1.20032E-06
18943 60 T/A 86 None 1.0224 None gnomAD-4.0.0 1.5923E-06
18943 60 T/N 86 None 1.0224 None gnomAD-4.0.0 4.77683E-06
18944 61 L/F 87 rs778351310 1.1404 None gnomAD-2.1.1 8.06E-06
18944 61 L/F 87 rs778351310 1.1404 None gnomAD-3.1.2 6.58E-06
18944 61 L/F 87 rs778351310 1.1404 None gnomAD-4.0.0 6.19929E-06
18944 61 L/S 87 None 1.1404 None gnomAD-4.0.0 1.59225E-06
18945 62 G/S 88 None 0.3391 None gnomAD-4.0.0 1.59226E-06
18946 63 V/A 89 None 0.1300 None gnomAD-4.0.0 1.59226E-06
18947 64 S/A 90 rs1357569723 0.4358 None gnomAD-2.1.1 3.19E-05
18949 66 K/E 92 None 0.4590 None gnomAD-4.0.0 1.5922E-06
18951 68 T/I 94 None 0.5870 None gnomAD-4.0.0 1.36877E-06
18951 68 T/N 94 rs2052524114 0.5870 None gnomAD-3.1.2 6.58E-06
18951 68 T/N 94 rs2052524114 0.5870 None gnomAD-4.0.0 1.85971E-06
18952 69 G/S 96 rs766126662 0.5031 None gnomAD-2.1.1 3.22E-05
18952 69 G/S 96 rs766126662 0.5031 None gnomAD-4.0.0 4.79067E-06
18952 69 G/V 96 rs762735652 0.5031 None gnomAD-2.1.1 4.03E-06
18952 69 G/V 96 rs762735652 0.5031 None gnomAD-4.0.0 1.02657E-05
18953 70 L/I 97 rs879079168 0.1250 None gnomAD-3.1.2 6.58E-06
18953 70 L/I 97 rs879079168 0.1250 None gnomAD-4.0.0 6.57999E-06
18953 70 L/P 97 rs749931527 0.1250 None gnomAD-2.1.1 4.03E-06
18953 70 L/P 97 rs749931527 0.1250 None gnomAD-3.1.2 6.58E-06
18953 70 L/P 97 rs749931527 0.1250 None gnomAD-4.0.0 2.56329E-06
18953 70 L/V 97 None 0.1250 None gnomAD-4.0.0 1.5922E-06
18954 71 I/T 98 rs1411922083 0.6158 None gnomAD-2.1.1 4.03E-06
18954 71 I/T 98 rs1411922083 0.6158 None gnomAD-3.1.2 6.58E-06
18954 71 I/T 98 rs1411922083 0.6158 None gnomAD-4.0.0 4.33902E-06
18956 73 G/D 100 rs764791747 0.4302 None gnomAD-3.1.2 6.58E-06
18956 73 G/D 100 rs764791747 0.4302 None gnomAD-4.0.0 6.57255E-06
18956 73 G/V 100 rs764791747 0.4302 None gnomAD-2.1.1 4.03E-06
18956 73 G/V 100 rs764791747 0.4302 None gnomAD-3.1.2 6.58E-06
18956 73 G/V 100 rs764791747 0.4302 None gnomAD-4.0.0 6.57765E-06
18957 74 S/F 102 None 0.1583 None gnomAD-4.0.0 1.59227E-06
18958 75 D/E 103 None 0.3716 None gnomAD-4.0.0 2.40064E-06
18958 75 D/H 103 rs576158850 0.3716 None gnomAD-2.1.1 4.03E-06
18958 75 D/H 103 rs576158850 0.3716 None gnomAD-4.0.0 6.84403E-07
18958 75 D/N 103 rs576158850 0.3716 None gnomAD-2.1.1 4.43E-05
18958 75 D/N 103 rs576158850 0.3716 None gnomAD-3.1.2 5.92E-05
18958 75 D/N 103 rs576158850 0.3716 None 1000 genomes 1.99681E-04
18958 75 D/N 103 rs576158850 0.3716 None gnomAD-4.0.0 5.64075E-05
18958 75 D/V 103 rs2052516508 0.3716 None gnomAD-3.1.2 6.58E-06
18958 75 D/V 103 rs2052516508 0.3716 None gnomAD-4.0.0 6.57843E-06
18959 76 Y/C 104 rs775301931 0.1139 None gnomAD-2.1.1 8.06E-06
18959 76 Y/C 104 rs775301931 0.1139 None gnomAD-4.0.0 3.18448E-06
18959 76 Y/D 104 rs753144774 0.1139 None gnomAD-2.1.1 4.03E-06
18959 76 Y/N 104 rs753144774 0.1139 None gnomAD-2.1.1 7.15E-06
18959 76 Y/N 104 rs753144774 0.1139 None gnomAD-3.1.2 5.26E-05
18959 76 Y/N 104 rs753144774 0.1139 None gnomAD-4.0.0 6.13665E-05
18960 77 Q/H 105 rs377413828 0.1857 None gnomAD-2.1.1 4.03E-06
18960 77 Q/H 105 rs377413828 0.1857 None gnomAD-3.1.2 6.58E-06
18960 77 Q/H 105 rs377413828 0.1857 None gnomAD-4.0.0 2.56365E-06
18960 77 Q/R 105 rs1250731428 0.1857 None gnomAD-2.1.1 8.06E-06
18960 77 Q/R 105 rs1250731428 0.1857 None gnomAD-3.1.2 1.32E-05
18960 77 Q/R 105 rs1250731428 0.1857 None gnomAD-4.0.0 1.42571E-05
18961 78 F/L 106 None 0.1148 None gnomAD-4.0.0 2.40064E-06
18962 79 R/Q 107 rs141399146 0.1392 None gnomAD-2.1.1 2.01E-05
18962 79 R/Q 107 rs141399146 0.1392 None gnomAD-3.1.2 1.97E-05
18962 79 R/Q 107 rs141399146 0.1392 None 1000 genomes 3.99361E-04
18962 79 R/Q 107 rs141399146 0.1392 None gnomAD-4.0.0 2.10745E-05
18962 79 R/W 107 rs556286196 0.1392 None gnomAD-2.1.1 8.06E-06
18962 79 R/W 107 rs556286196 0.1392 None gnomAD-3.1.2 3.95E-05
18962 79 R/W 107 rs556286196 0.1392 None 1000 genomes 1.99681E-04
18962 79 R/W 107 rs556286196 0.1392 None gnomAD-4.0.0 1.23969E-05
18964 81 Y/C 109 rs770854579 0.2093 None gnomAD-2.1.1 1.07E-05
18964 81 Y/C 109 rs770854579 0.2093 None gnomAD-3.1.2 6.58E-06
18964 81 Y/C 109 rs770854579 0.2093 None gnomAD-4.0.0 2.56372E-06
18964 81 Y/H 109 None 0.2093 None gnomAD-4.0.0 1.20032E-06
18966 83 I/M 111 rs749403840 0.1014 None gnomAD-2.1.1 8.06E-06
18966 83 I/M 111 rs749403840 0.1014 None gnomAD-4.0.0 1.59215E-06
18967 84 N/K 112 rs1224594831 0.1135 None gnomAD-2.1.1 4.03E-06
18967 84 N/K 112 rs1224594831 0.1135 None gnomAD-4.0.0 1.59212E-06
18967 84 N/S 112 rs727503594 0.1135 None gnomAD-2.1.1 7.15E-06
18967 84 N/S 112 rs727503594 0.1135 None gnomAD-3.1.2 1.97E-05
18967 84 N/S 112 rs727503594 0.1135 None gnomAD-4.0.0 4.33898E-06
18969 86 A/G 114 None 0.5590 None gnomAD-4.0.0 2.05308E-06
18969 86 A/V 114 rs2052509018 0.5590 None gnomAD-3.1.2 6.58E-06
18969 86 A/V 114 rs2052509018 0.5590 None gnomAD-4.0.0 6.57601E-06
18971 88 V/M 116 rs373153121 0.3511 None gnomAD-2.1.1 5.72E-05
18971 88 V/M 116 rs373153121 0.3511 None gnomAD-3.1.2 5.26E-05
18971 88 V/M 116 rs373153121 0.3511 None gnomAD-4.0.0 3.71923E-05
18972 89 G/A 118 rs755417012 0.1903 None gnomAD-2.1.1 4.03E-06
18972 89 G/A 118 rs755417012 0.1903 None gnomAD-4.0.0 1.59208E-06
18974 91 A/V 120 rs1336627311 0.2405 None gnomAD-2.1.1 4.03E-06
18974 91 A/V 120 rs1336627311 0.2405 None gnomAD-4.0.0 1.59207E-06
18976 93 L/M 122 rs1333698664 0.8066 None gnomAD-2.1.1 4.03E-06
18976 93 L/M 122 rs1333698664 0.8066 None gnomAD-4.0.0 1.36874E-06
18976 93 L/R 122 None 0.8066 None gnomAD-4.0.0 1.59214E-06
18977 94 P/S 123 rs750056302 0.3530 None gnomAD-2.1.1 4.03E-06
18977 94 P/S 123 rs750056302 0.3530 None gnomAD-4.0.0 1.59221E-06
18979 96 D/E 125 rs761214924 0.7026 None gnomAD-2.1.1 4.03E-06
18979 96 D/H 125 None 0.7026 None gnomAD-4.0.0 1.20032E-06
18980 97 P/L 126 rs753452704 0.5452 None gnomAD-2.1.1 3.19E-05
18980 97 P/L 126 rs753452704 0.5452 None gnomAD-3.1.2 6.58E-06
18980 97 P/L 126 rs753452704 0.5452 None gnomAD-4.0.0 6.57644E-06
18980 97 P/S 126 None 0.5452 None gnomAD-4.0.0 1.20032E-06
18981 98 A/E 127 None 0.2595 None gnomAD-4.0.0 1.36902E-06
18981 98 A/P 127 rs760651904 0.2595 None gnomAD-2.1.1 4.03E-06
18981 98 A/P 127 rs760651904 0.2595 None gnomAD-4.0.0 6.84439E-07
18981 98 A/T 127 rs760651904 0.2595 None gnomAD-2.1.1 4.03E-06
18981 98 A/T 127 rs760651904 0.2595 None gnomAD-3.1.2 6.58E-06
18981 98 A/T 127 rs760651904 0.2595 None gnomAD-4.0.0 3.09957E-06
18981 98 A/V 127 rs397517627 0.2595 None gnomAD-2.1.1 1.1101E-04
18981 98 A/V 127 rs397517627 0.2595 None gnomAD-3.1.2 1.31529E-04
18981 98 A/V 127 rs397517627 0.2595 None gnomAD-4.0.0 2.38073E-04
18983 100 A/T 130 rs377000174 0.0686 None gnomAD-2.1.1 9.32E-05
18983 100 A/T 130 rs377000174 0.0686 None gnomAD-3.1.2 6.57E-05
18983 100 A/T 130 rs377000174 0.0686 MD
Literature None
18983 100 A/T 130 rs377000174 0.0686 None gnomAD-4.0.0 1.0293E-04
18983 100 A/V 130 rs774502532 0.0686 None gnomAD-2.1.1 3.23E-05
18983 100 A/V 130 rs774502532 0.0686 None gnomAD-4.0.0 1.23232E-05
18984 101 R/G 131 None 0.6557 None gnomAD-4.0.0 6.85385E-07
18984 101 R/T 131 None 0.6557 None gnomAD-4.0.0 2.0539E-06
18985 102 D/N 132 rs1244503464 0.4436 None gnomAD-2.1.1 4.04E-06
18985 102 D/N 132 rs1244503464 0.4436 None gnomAD-4.0.0 2.05416E-06
18985 102 D/V 132 None 0.4436 None gnomAD-4.0.0 1.59483E-06