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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
17863 2 P/S 2 rs779017618 0.2383 None gnomAD-2.1.1 1.28E-05
17863 2 P/S 2 rs779017618 0.2383 None gnomAD-3.1.2 1.32E-05
17863 2 P/S 2 rs779017618 0.2383 None gnomAD-4.0.0 4.33387E-06
17864 3 T/A 3 rs375309278 0.3622 None gnomAD-2.1.1 4.27E-05
17864 3 T/A 3 rs375309278 0.3622 None gnomAD-3.1.2 1.11824E-04
17864 3 T/A 3 rs375309278 0.3622 None 1000 genomes 1.99681E-04
17864 3 T/A 3 rs375309278 0.3622 None gnomAD-4.0.0 1.96307E-05
17864 3 T/K 3 rs373176585 0.3622 None gnomAD-4.0.0 7.25273E-07
17865 4 S/A 4 rs756689912 0.3082 None gnomAD-2.1.1 4.86E-06
17865 4 S/A 4 rs756689912 0.3082 None gnomAD-3.1.2 6.58E-06
17865 4 S/A 4 rs756689912 0.3082 None gnomAD-4.0.0 6.58042E-06
17865 4 S/C 4 rs753095229 0.3082 None gnomAD-2.1.1 4.85E-06
17865 4 S/C 4 rs753095229 0.3082 None gnomAD-4.0.0 2.16502E-06
17865 4 S/F 4 rs753095229 0.3082 None gnomAD-4.0.0 2.16502E-06
17865 4 S/T 4 rs756689912 0.3082 None gnomAD-2.1.1 9.72E-06
17865 4 S/T 4 rs756689912 0.3082 None gnomAD-3.1.2 1.97E-05
17865 4 S/T 4 rs756689912 0.3082 None gnomAD-4.0.0 1.04082E-05
17866 5 P/L 5 rs1220657053 0.1696 None gnomAD-2.1.1 4.75E-06
17866 5 P/L 5 rs1220657053 0.1696 None gnomAD-4.0.0 1.79469E-06
17866 5 P/T 5 rs897867061 0.1696 None gnomAD-2.1.1 1.42E-05
17866 5 P/T 5 rs897867061 0.1696 None gnomAD-3.1.2 1.32E-05
17866 5 P/T 5 rs897867061 0.1696 None gnomAD-4.0.0 1.12818E-05
17868 7 R/S 7 None 0.7178 None gnomAD-4.0.0 1.69458E-06
17869 8 L/R 9 None 0.2185 None gnomAD-4.0.0 1.20032E-06
17870 9 T/A 11 rs758041223 0.4951 None gnomAD-2.1.1 1.71E-05
17870 9 T/A 11 rs758041223 0.4951 None gnomAD-3.1.2 6.58E-06
17870 9 T/A 11 rs758041223 0.4951 None gnomAD-4.0.0 4.4229E-06
17870 9 T/I 11 rs1553683359 0.4951 None gnomAD-4.0.0 6.98284E-07
17870 9 T/P 11 None 0.4951 None gnomAD-4.0.0 6.98982E-07
17871 10 Y/C 12 None 0.4418 None gnomAD-4.0.0 6.97927E-07
17871 10 Y/N 12 None 0.4418 None gnomAD-4.0.0 1.20032E-06
17873 12 E/G 14 None 0.7348 None gnomAD-4.0.0 4.8694E-06
17873 12 E/Q 14 None 0.7348 None gnomAD-4.0.0 3.24992E-06
17874 13 R/T 15 None 0.2283 None gnomAD-4.0.0 1.62079E-06
17875 14 T/I 16 rs750095768 0.3270 None gnomAD-2.1.1 4.11E-06
17877 16 S/A 18 rs776123623 0.3538 None gnomAD-2.1.1 4.09E-06
17877 16 S/A 18 rs776123623 0.3538 None gnomAD-4.0.0 1.3761E-06
17877 16 S/P 18 rs776123623 0.3538 None gnomAD-2.1.1 4.09E-06
17877 16 S/P 18 rs776123623 0.3538 None gnomAD-4.0.0 6.88048E-07
17878 17 T/I 19 None 0.3071 None gnomAD-4.0.0 1.60683E-06
17879 18 I/M 20 None 0.1091 None gnomAD-4.0.0 1.60561E-06
17879 18 I/T 20 rs760585965 0.1091 None gnomAD-2.1.1 1.63E-05
17879 18 I/T 20 rs760585965 0.1091 None gnomAD-3.1.2 1.32E-05
17879 18 I/T 20 rs760585965 0.1091 None gnomAD-4.0.0 4.41593E-05
17881 20 L/F 22 rs771801125 0.1283 None gnomAD-2.1.1 4.05E-06
17881 20 L/F 22 rs771801125 0.1283 None gnomAD-4.0.0 6.85953E-07
17881 20 L/V 22 rs771801125 0.1283 None gnomAD-2.1.1 8.1E-06
17881 20 L/V 22 rs771801125 0.1283 None gnomAD-3.1.2 6.58E-06
17881 20 L/V 22 rs771801125 0.1283 None gnomAD-4.0.0 8.07554E-06
17882 21 D/N 23 None 0.3030 None gnomAD-4.0.0 4.79926E-06
17883 22 W/C 24 rs774663244 0.1426 None gnomAD-2.1.1 4.04E-06
17883 22 W/C 24 rs774663244 0.1426 None gnomAD-4.0.0 1.59915E-06
17883 22 W/R 24 None 0.1426 None gnomAD-4.0.0 1.59817E-06
17885 24 E/Q 26 None 0.5813 None gnomAD-4.0.0 6.85348E-07
17887 26 R/C 28 rs771307468 0.8216 None gnomAD-4.0.0 1.5962E-06
17887 26 R/H 28 rs749310329 0.8216 None gnomAD-2.1.1 1.21E-05
17887 26 R/H 28 rs749310329 0.8216 None gnomAD-3.1.2 6.58E-06
17887 26 R/H 28 rs749310329 0.8216 None gnomAD-4.0.0 5.58507E-06
17888 27 S/N 29 rs778009539 0.3955 None gnomAD-2.1.1 4.04E-06
17888 27 S/N 29 rs778009539 0.3955 None gnomAD-4.0.0 1.61001E-06
17888 27 S/R 29 None 0.3955 None gnomAD-4.0.0 1.20032E-06
17889 28 N/H 30 None 0.3789 None gnomAD-4.0.0 1.20033E-06
17889 28 N/S 30 rs1457628589 0.3789 None gnomAD-2.1.1 4.03E-06
17889 28 N/S 30 rs1457628589 0.3789 None gnomAD-4.0.0 1.6413E-06
17890 29 G/D 31 rs756643886 0.2115 None gnomAD-2.1.1 1.21E-05
17890 29 G/D 31 rs756643886 0.2115 None gnomAD-4.0.0 7.53421E-06
17892 31 S/C 33 None 0.2347 None gnomAD-4.0.0 1.20032E-06
17892 31 S/N 33 None 0.2347 None gnomAD-4.0.0 1.59493E-06
17892 31 S/R 33 rs2154195662 0.2347 None gnomAD-4.0.0 3.60097E-06
17893 32 P/A 34 None 0.7006 None gnomAD-4.0.0 1.59511E-06
17893 32 P/H 34 None 0.7006 None gnomAD-4.0.0 6.84928E-07
17893 32 P/R 34 rs1576340594 0.7006 None gnomAD-4.0.0 6.84928E-07
17893 32 P/T 34 None 0.7006 None gnomAD-4.0.0 1.59511E-06
17894 33 I/T 35 None 0.3719 None gnomAD-4.0.0 1.59557E-06
17894 33 I/V 35 rs1200778787 0.3719 None gnomAD-2.1.1 4.03E-06
17894 33 I/V 35 rs1200778787 0.3719 None gnomAD-4.0.0 1.59461E-06
17895 34 Q/E 36 rs796463261 0.5323 None gnomAD-3.1.2 6.61E-06
17895 34 Q/E 36 rs796463261 0.5323 None gnomAD-4.0.0 1.32022E-05
17896 35 G/V 37 None 0.1424 None gnomAD-4.0.0 6.92538E-06
17897 36 Y/C 38 rs937899757 0.1381 None gnomAD-2.1.1 4.03E-06
17897 36 Y/C 38 rs937899757 0.1381 None gnomAD-3.1.2 6.58E-06
17897 36 Y/C 38 rs937899757 0.1381 None gnomAD-4.0.0 4.34204E-06
17899 38 I/T 40 rs369723141 0.0785 None gnomAD-4.0.0 1.59444E-06
17899 38 I/V 40 rs1359912614 0.0785 None gnomAD-2.1.1 3.19E-05
17899 38 I/V 40 rs1359912614 0.0785 None gnomAD-3.1.2 6.6E-06
17899 38 I/V 40 rs1359912614 0.0785 None gnomAD-4.0.0 3.85763E-06
17900 39 E/Q 41 rs1231539821 0.1454 None gnomAD-3.1.2 6.63E-06
17900 39 E/Q 41 rs1231539821 0.1454 None gnomAD-4.0.0 6.6306E-06
17901 40 K/N 42 None 0.2784 None gnomAD-4.0.0 1.20032E-06
17901 40 K/T 42 None 0.2784 None gnomAD-4.0.0 1.20032E-06
17902 41 R/Q 43 rs781600329 0.2003 None gnomAD-2.1.1 3.22E-05
17902 41 R/Q 43 rs781600329 0.2003 None gnomAD-4.0.0 8.21778E-06
17902 41 R/W 43 rs748647255 0.2003 None gnomAD-2.1.1 1.07E-05
17902 41 R/W 43 rs748647255 0.2003 None gnomAD-3.1.2 6.6E-06
17902 41 R/W 43 rs748647255 0.2003 None gnomAD-4.0.0 3.72431E-06
17903 42 R/C 44 rs1016726284 0.2686 None gnomAD-2.1.1 1.21E-05
17903 42 R/C 44 rs1016726284 0.2686 None gnomAD-3.1.2 1.98E-05
17903 42 R/C 44 rs1016726284 0.2686 None gnomAD-4.0.0 9.92555E-06
17903 42 R/G 44 rs1016726284 0.2686 None gnomAD-3.1.2 6.59E-06
17903 42 R/G 44 rs1016726284 0.2686 None gnomAD-4.0.0 6.58657E-06
17903 42 R/H 44 rs755252821 0.2686 None gnomAD-2.1.1 7.15E-06
17903 42 R/H 44 rs755252821 0.2686 None gnomAD-3.1.2 6.6E-06
17903 42 R/H 44 rs755252821 0.2686 None gnomAD-4.0.0 1.67614E-05
17904 43 H/Q 50 rs2054588188 0.7011 None gnomAD-4.0.0 1.59435E-06
17905 44 D/E 54 rs1366977449 0.4934 None gnomAD-2.1.1 3.19E-05
17905 44 D/E 54 rs1366977449 0.4934 None gnomAD-3.1.2 6.67E-06
17905 44 D/E 54 rs1366977449 0.4934 None gnomAD-4.0.0 1.92498E-06
17905 44 D/H 54 rs2054587701 0.4934 None gnomAD-4.0.0 1.61822E-06
17906 45 K/R 60 rs727503606 0.5147 None gnomAD-2.1.1 8.06E-06
17906 45 K/R 60 rs727503606 0.5147 None gnomAD-3.1.2 1.32E-05
17906 45 K/R 60 rs727503606 0.5147 None gnomAD-4.0.0 8.68364E-06
17908 47 D/N 64 rs778472800 0.6768 None gnomAD-2.1.1 4.03E-06
17909 48 F/S 65 rs1328997528 0.2255 None gnomAD-2.1.1 4.03E-06
17909 48 F/S 65 rs1328997528 0.2255 None gnomAD-4.0.0 1.59435E-06
17910 49 E/Q 66 rs966575531 0.6057 None gnomAD-4.0.0 2.10121E-06
17911 50 R/I 67 rs1576339919 0.3427 None gnomAD-4.0.0 6.86517E-07
17911 50 R/K 67 None 0.3427 None gnomAD-4.0.0 7.55169E-06
17912 51 V/F 68 None 0.2457 None gnomAD-4.0.0 4.98543E-06
17912 51 V/L 68 None 0.2457 None gnomAD-4.0.0 7.12155E-07
17913 52 N/I 69 None 0.1251 None gnomAD-4.0.0 1.20032E-06
17914 53 K/T 70 None 1.0419 None gnomAD-4.0.0 2.76429E-06
17915 54 R/L 72 None 0.9032 None gnomAD-4.0.0 1.5942E-06
17915 54 R/Q 72 rs758896047 0.9032 None gnomAD-2.1.1 1.61E-05
17915 54 R/Q 72 rs758896047 0.9032 None gnomAD-3.1.2 5.93E-05
17915 54 R/Q 72 rs758896047 0.9032 None gnomAD-4.0.0 2.56717E-05
17916 55 L/F 75 None 0.3139 None gnomAD-4.0.0 1.20032E-06
17916 55 L/R 75 rs1412322444 0.3139 None gnomAD-2.1.1 1.43E-05
17916 55 L/R 75 rs1412322444 0.3139 None gnomAD-3.1.2 3.29E-05
17916 55 L/R 75 rs1412322444 0.3139 None gnomAD-4.0.0 1.15497E-05
17918 57 P/A 83 rs763660329 0.6640 None gnomAD-2.1.1 8.06E-06
17918 57 P/A 83 rs763660329 0.6640 None gnomAD-4.0.0 3.18832E-06
17919 58 T/A 88 rs199605903 0.4977 None gnomAD-2.1.1 7.15E-06
17919 58 T/A 88 rs199605903 0.4977 None gnomAD-3.1.2 1.32E-05
17919 58 T/A 88 rs199605903 0.4977 None gnomAD-4.0.0 1.73665E-05
17919 58 T/I 88 rs1192046645 0.4977 None gnomAD-3.1.2 6.58E-06
17919 58 T/I 88 rs1192046645 0.4977 None gnomAD-4.0.0 6.58345E-06
17919 58 T/N 88 rs1192046645 0.4977 None gnomAD-3.1.2 6.58E-06
17919 58 T/N 88 rs1192046645 0.4977 None gnomAD-4.0.0 2.03044E-06
17919 58 T/S 88 None 0.4977 None gnomAD-4.0.0 6.84742E-07
17920 59 T/I 89 None 0.2284 None gnomAD-4.0.0 1.59419E-06
17920 59 T/P 89 rs2054577412 0.2284 None gnomAD-4.0.0 1.68045E-05
17923 62 L/P 92 None 0.4186 None gnomAD-4.0.0 1.59428E-06
17923 62 L/R 92 rs2054576322 0.4186 None gnomAD-4.0.0 1.11599E-05
17924 63 V/A 93 rs879168076 0.1478 None gnomAD-3.1.2 1.97E-05
17924 63 V/A 93 rs879168076 0.1478 None gnomAD-4.0.0 4.96182E-06
17924 63 V/I 93 rs886916206 0.1478 None gnomAD-2.1.1 8.06E-06
17924 63 V/I 93 rs886916206 0.1478 None gnomAD-3.1.2 6.59E-06
17924 63 V/I 93 rs886916206 0.1478 None gnomAD-4.0.0 6.82319E-06
17925 64 E/A 94 rs1488258025 0.6020 None gnomAD-3.1.2 6.58E-06
17925 64 E/A 94 rs1488258025 0.6020 None gnomAD-4.0.0 6.57903E-06
17926 65 N/D 96 None 0.8374 None gnomAD-4.0.0 1.59431E-06
17927 66 L/I 97 rs760629716 0.1288 None gnomAD-2.1.1 4.03E-06
17927 66 L/P 97 rs369678018 0.1288 None gnomAD-2.1.1 1.32377E-04
17927 66 L/P 97 rs369678018 0.1288 None gnomAD-3.1.2 8.55E-05
17927 66 L/P 97 rs369678018 0.1288 None gnomAD-4.0.0 1.60638E-04
17927 66 L/V 97 None 0.1288 None gnomAD-4.0.0 1.36955E-06
17928 67 D/G 98 None 0.4346 None gnomAD-4.0.0 1.20032E-06
17929 68 E/G 99 None 0.2799 None gnomAD-4.0.0 1.59432E-06
17929 68 E/K 99 rs201052994 0.2799 None gnomAD-2.1.1 8.06E-06
17929 68 E/K 99 rs201052994 0.2799 None gnomAD-3.1.2 1.98E-05
17929 68 E/K 99 rs201052994 0.2799 None gnomAD-4.0.0 1.0544E-05
17930 69 H/Q 100 rs1211145414 0.6137 None gnomAD-2.1.1 3.19E-05
17930 69 H/Q 100 rs1211145414 0.6137 None gnomAD-3.1.2 1.32E-05
17930 69 H/Q 100 rs1211145414 0.6137 None gnomAD-4.0.0 3.72164E-06
17931 70 Q/E 102 rs759208053 0.3634 None gnomAD-2.1.1 1.43E-05
17931 70 Q/E 102 rs759208053 0.3634 None gnomAD-3.1.2 3.95E-05
17931 70 Q/E 102 rs759208053 0.3634 None gnomAD-4.0.0 6.20302E-06
17932 71 M/I 103 rs1195735577 0.2834 None gnomAD-4.0.0 1.20032E-06
17932 71 M/T 103 None 0.2834 None gnomAD-4.0.0 6.8479E-07
17933 72 Y/C 104 rs1271497242 0.1157 None gnomAD-4.0.0 3.18885E-06
17934 73 E/K 105 rs774287393 0.1598 None gnomAD-2.1.1 4.03E-06
17934 73 E/K 105 rs774287393 0.1598 None gnomAD-4.0.0 1.59461E-06
17936 75 R/C 107 rs763337826 0.1859 None gnomAD-2.1.1 4.03E-06
17936 75 R/C 107 rs763337826 0.1859 None gnomAD-3.1.2 6.59E-06
17936 75 R/C 107 rs763337826 0.1859 None gnomAD-4.0.0 2.56818E-06
17936 75 R/H 107 rs727503604 0.1859 None gnomAD-2.1.1 8.95E-05
17936 75 R/H 107 rs727503604 0.1859 None gnomAD-3.1.2 6.59E-05
17936 75 R/H 107 rs727503604 0.1859 None gnomAD-4.0.0 6.1421E-05
17936 75 R/S 107 rs763337826 0.1859 None gnomAD-2.1.1 1.07E-05
17936 75 R/S 107 rs763337826 0.1859 None gnomAD-3.1.2 5.93E-05
17936 75 R/S 107 rs763337826 0.1859 None gnomAD-4.0.0 1.79773E-05
17937 76 V/D 108 rs1559723150 0.0961 None gnomAD-2.1.1 4.03E-06
17937 76 V/D 108 rs1559723150 0.0961 None gnomAD-4.0.0 1.59467E-06
17938 77 K/R 109 None 0.2572 None gnomAD-4.0.0 1.59491E-06
17939 78 A/P 110 None 0.1219 None gnomAD-4.0.0 1.59524E-06
17939 78 A/V 110 None 0.1219 None gnomAD-4.0.0 1.20032E-06
17940 79 V/A 111 None 0.2013 None gnomAD-4.0.0 2.40064E-06
17940 79 V/I 111 None 0.2013 None gnomAD-4.0.0 1.59576E-06
17941 80 N/D 112 None 0.1082 None gnomAD-4.0.0 1.59558E-06
17941 80 N/I 112 rs75257026 0.1082 None gnomAD-2.1.1 4.04E-06
17941 80 N/I 112 rs75257026 0.1082 None gnomAD-4.0.0 1.5956E-06
17941 80 N/K 112 None 0.1082 None gnomAD-4.0.0 1.20032E-06
17941 80 N/S 112 None 0.1082 None gnomAD-4.0.0 1.5956E-06
17942 81 E/K 113 rs2054564830 0.6862 None gnomAD-3.1.2 6.58E-06
17942 81 E/K 113 rs2054564830 0.6862 None gnomAD-4.0.0 2.48192E-06
17943 82 I/S 114 None 0.5876 None gnomAD-4.0.0 6.85078E-07
17943 82 I/T 114 rs769817623 0.5876 None gnomAD-2.1.1 8.08E-06
17943 82 I/T 114 rs769817623 0.5876 None gnomAD-4.0.0 7.53586E-06
17944 83 G/S 115 rs1242126329 0.2680 None gnomAD-2.1.1 4.04E-06
17944 83 G/S 115 rs1242126329 0.2680 None gnomAD-4.0.0 1.59684E-06
17945 84 E/D 117 rs556413709 0.6059 None gnomAD-2.1.1 2.83E-05
17945 84 E/D 117 rs556413709 0.6059 None gnomAD-3.1.2 6.58E-06
17945 84 E/D 117 rs556413709 0.6059 None 1000 genomes 1.99681E-04
17945 84 E/D 117 rs556413709 0.6059 None gnomAD-4.0.0 4.34399E-06
17946 85 S/N 118 rs1283273656 0.1365 None gnomAD-2.1.1 4.05E-06
17946 85 S/T 118 rs1283273656 0.1365 None gnomAD-2.1.1 8.1E-06
17946 85 S/T 118 rs1283273656 0.1365 None gnomAD-4.0.0 1.59761E-06
17947 86 E/K 119 rs1445321949 0.6456 None gnomAD-2.1.1 8.1E-06
17947 86 E/K 119 rs1445321949 0.6456 None gnomAD-3.1.2 6.58E-06
17947 86 E/K 119 rs1445321949 0.6456 None gnomAD-4.0.0 1.98681E-05
17948 87 P/L 120 None 0.3510 None gnomAD-4.0.0 6.8575E-07
17948 87 P/Q 120 rs781513071 0.3510 None gnomAD-2.1.1 4.05E-06
17948 87 P/Q 120 rs781513071 0.3510 None gnomAD-4.0.0 2.743E-06
17948 87 P/T 120 rs2054560822 0.3510 None gnomAD-4.0.0 2.74208E-06
17950 89 L/R 122 rs2054558907 1.0871 None gnomAD-4.0.0 1.60013E-06
17951 90 P/R 123 None 0.5035 None gnomAD-4.0.0 1.60174E-06
17952 91 L/I 124 None 0.2022 None gnomAD-4.0.0 1.60772E-06
17952 91 L/R 124 rs1419642739 0.2022 None gnomAD-2.1.1 4.08E-06
17952 91 L/R 124 rs1419642739 0.2022 None gnomAD-3.1.2 1.32E-05
17952 91 L/R 124 rs1419642739 0.2022 None gnomAD-4.0.0 1.31605E-05
17953 92 N/D 125 None 0.5980 None gnomAD-4.0.0 6.87557E-07
17953 92 N/K 125 rs769210939 0.5980 None gnomAD-2.1.1 2.86E-05
17953 92 N/K 125 rs769210939 0.5980 None gnomAD-4.0.0 4.12561E-06
17953 92 N/S 125 rs2054557053 0.5980 None gnomAD-4.0.0 1.20033E-06
17953 92 N/Y 125 None 0.5980 None gnomAD-4.0.0 6.87557E-07
17955 94 V/A 127 rs747319436 0.3657 None gnomAD-3.1.2 6.58E-06
17955 94 V/A 127 rs747319436 0.3657 None gnomAD-4.0.0 3.91004E-06
17956 95 I/V 129 None 0.0813 None gnomAD-4.0.0 1.20032E-06
17957 96 Q/K 130 rs2054555102 0.3673 None gnomAD-4.0.0 6.90983E-07
17958 97 D/Y 131 None 0.6550 None gnomAD-4.0.0 1.65127E-06