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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
21064 1 P/A 1 None 0.5183 None gnomAD-4.0.0 1.73766E-06
21064 1 P/L 1 None 0.5183 None gnomAD-4.0.0 7.09846E-07
21065 2 P/A 2 None 0.1266 None gnomAD-4.0.0 1.20034E-06
21065 2 P/L 2 None 0.1266 None gnomAD-4.0.0 7.07237E-07
21065 2 P/R 2 rs2049459670 0.1266 None gnomAD-3.1.2 6.58E-06
21065 2 P/R 2 rs2049459670 0.1266 None gnomAD-4.0.0 5.1085E-06
21066 3 G/C 3 None 0.2215 None gnomAD-4.0.0 7.06061E-07
21066 3 G/D 3 None 0.2215 None gnomAD-4.0.0 1.71782E-06
21066 3 G/S 3 None 0.2215 None gnomAD-4.0.0 7.06061E-07
21067 4 P/A 4 None 0.3358 None gnomAD-4.0.0 1.40824E-06
21067 4 P/L 4 rs1479721183 0.3358 None gnomAD-2.1.1 4.49E-06
21067 4 P/L 4 rs1479721183 0.3358 None gnomAD-4.0.0 7.04641E-07
21067 4 P/R 4 None 0.3358 None gnomAD-4.0.0 7.0464E-07
21067 4 P/T 4 None 0.3358 None gnomAD-4.0.0 7.04121E-07
21068 5 P/R 5 None 0.1299 None gnomAD-4.0.0 3.41293E-06
21069 6 T/A 6 None 0.2937 None gnomAD-4.0.0 7.00326E-07
21071 8 F/L 9 None 0.1504 None gnomAD-4.0.0 1.67094E-06
21071 8 F/Y 9 rs2154182814 0.1504 None gnomAD-4.0.0 1.66884E-06
21073 10 V/M 12 rs777982485 0.2880 None gnomAD-2.1.1 8.48E-06
21073 10 V/M 12 rs777982485 0.2880 None gnomAD-4.0.0 2.09176E-06
21076 13 T/I 15 rs972090108 0.1762 None gnomAD-2.1.1 7.33E-06
21076 13 T/I 15 rs972090108 0.1762 None gnomAD-3.1.2 6.58E-06
21076 13 T/I 15 rs972090108 0.1762 None gnomAD-4.0.0 2.50761E-06
21076 13 T/R 15 rs972090108 0.1762 None gnomAD-2.1.1 4.14E-06
21076 13 T/R 15 rs972090108 0.1762 None gnomAD-3.1.2 6.58E-06
21076 13 T/R 15 rs972090108 0.1762 None gnomAD-4.0.0 1.25381E-06
21077 14 T/I 16 rs2049450214 0.2818 None gnomAD-3.1.2 6.58E-06
21077 14 T/I 16 rs2049450214 0.2818 None gnomAD-4.0.0 6.25166E-06
21077 14 T/N 16 None 0.2818 None gnomAD-4.0.0 6.90806E-07
21078 15 K/E 17 rs1559557769 0.5391 None gnomAD-2.1.1 3.19E-05
21078 15 K/E 17 rs1559557769 0.5391 None gnomAD-3.1.2 6.58E-06
21078 15 K/E 17 rs1559557769 0.5391 None gnomAD-4.0.0 4.06014E-06
21078 15 K/R 17 rs879227779 0.5391 None gnomAD-4.0.0 6.90122E-07
21078 15 K/T 17 rs879227779 0.5391 None gnomAD-2.1.1 6.9E-05
21078 15 K/T 17 rs879227779 0.5391 None gnomAD-3.1.2 1.11773E-04
21078 15 K/T 17 rs879227779 0.5391 None gnomAD-4.0.0 2.37335E-05
21079 16 H/R 18 rs2049447997 0.5139 None gnomAD-4.0.0 8.40239E-06
21080 17 S/A 19 rs769809225 0.1724 None gnomAD-2.1.1 4.08E-06
21080 17 S/A 19 rs769809225 0.1724 None gnomAD-4.0.0 1.61541E-06
21081 18 I/T 20 None 0.0804 None gnomAD-4.0.0 6.88023E-07
21082 19 T/I 21 rs2049445898 0.1492 None gnomAD-4.0.0 2.75171E-06
21082 19 T/N 21 rs2049445898 0.1492 None gnomAD-3.1.2 6.58E-06
21082 19 T/N 21 rs2049445898 0.1492 None gnomAD-4.0.0 3.11402E-06
21083 20 L/P 22 rs2049444900 0.0910 None gnomAD-3.1.2 6.58E-06
21083 20 L/P 22 rs2049444900 0.0910 None gnomAD-4.0.0 6.57739E-06
21083 20 L/R 22 None 0.0910 None gnomAD-4.0.0 3.20812E-06
21084 21 G/E 23 rs1342843033 0.0987 None gnomAD-2.1.1 4.05E-06
21084 21 G/E 23 rs1342843033 0.0987 None gnomAD-4.0.0 1.60416E-06
21085 22 W/G 24 None 0.1167 None gnomAD-4.0.0 1.20039E-06
21086 23 G/R 25 rs755518802 0.1693 None gnomAD-2.1.1 4.04E-06
21086 23 G/R 25 rs755518802 0.1693 None gnomAD-4.0.0 3.20002E-06
21087 24 K/R 26 rs1395427495 0.7663 None gnomAD-3.1.2 6.58E-06
21087 24 K/R 26 rs1395427495 0.7663 None gnomAD-4.0.0 6.57523E-06
21088 25 P/Q 27 None 0.1507 None gnomAD-4.0.0 1.59881E-06
21090 27 Y/C 29 rs377480514 0.5784 None gnomAD-2.1.1 8.07E-06
21090 27 Y/C 29 rs377480514 0.5784 None gnomAD-3.1.2 6.58E-06
21090 27 Y/C 29 rs377480514 0.5784 None gnomAD-4.0.0 1.30314E-05
21090 27 Y/F 29 rs377480514 0.5784 None gnomAD-2.1.1 1.21E-05
21090 27 Y/F 29 rs377480514 0.5784 None gnomAD-4.0.0 1.43894E-05
21091 28 D/E 30 rs374168580 0.3134 None gnomAD-2.1.1 4.03E-06
21091 28 D/E 30 rs374168580 0.3134 None gnomAD-4.0.0 6.85058E-07
21091 28 D/V 30 None 0.3134 None gnomAD-4.0.0 6.85045E-07
21093 30 G/D 32 rs1400431485 0.5868 None gnomAD-2.1.1 4.03E-06
21093 30 G/D 32 rs1400431485 0.5868 None gnomAD-4.0.0 1.59395E-06
21093 30 G/S 32 rs753537435 0.5868 None gnomAD-2.1.1 4.03E-06
21093 30 G/S 32 rs753537435 0.5868 None gnomAD-4.0.0 1.594E-06
21094 31 A/T 33 rs1408476291 0.2378 None gnomAD-3.1.2 6.58E-06
21094 31 A/T 33 rs1408476291 0.2378 None gnomAD-4.0.0 5.13148E-06
21094 31 A/V 33 None 0.2378 None gnomAD-4.0.0 7.5313E-06
21095 32 P/L 34 rs538105258 0.7514 None gnomAD-2.1.1 1.21E-05
21095 32 P/L 34 rs538105258 0.7514 None gnomAD-3.1.2 1.97E-05
21095 32 P/L 34 rs538105258 0.7514 None 1000 genomes 1.99681E-04
21095 32 P/L 34 rs538105258 0.7514 None gnomAD-4.0.0 6.20087E-06
21096 33 I/N 35 rs558727238 0.2030 None gnomAD-2.1.1 1.65271E-04
21096 33 I/N 35 rs558727238 0.2030 None gnomAD-3.1.2 4.6E-05
21096 33 I/N 35 rs558727238 0.2030 None 1000 genomes 3.99361E-04
21096 33 I/N 35 rs558727238 0.2030 None gnomAD-4.0.0 7.37809E-05
21096 33 I/V 35 rs568922646 0.2030 None gnomAD-2.1.1 4.03E-06
21096 33 I/V 35 rs568922646 0.2030 None gnomAD-3.1.2 1.32E-05
21096 33 I/V 35 rs568922646 0.2030 None 1000 genomes 1.99681E-04
21096 33 I/V 35 rs568922646 0.2030 None gnomAD-4.0.0 1.31422E-05
21097 34 I/T 36 rs759579228 0.3253 None gnomAD-2.1.1 8.06E-06
21097 34 I/T 36 rs759579228 0.3253 None gnomAD-4.0.0 1.27456E-05
21098 35 G/R 37 None 0.0890 None gnomAD-4.0.0 1.59318E-06
21099 36 Y/C 38 rs1180774898 0.1340 None gnomAD-2.1.1 8.06E-06
21099 36 Y/C 38 rs1180774898 0.1340 None gnomAD-4.0.0 3.18631E-06
21100 37 V/A 39 None 0.1923 None gnomAD-4.0.0 6.84561E-07
21100 37 V/I 39 rs774240012 0.1923 None gnomAD-2.1.1 4.03E-06
21100 37 V/I 39 rs774240012 0.1923 None gnomAD-4.0.0 1.36912E-06
21101 38 V/E 40 None 0.0912 None gnomAD-4.0.0 1.20039E-06
21101 38 V/M 40 None 0.0912 None gnomAD-4.0.0 1.59315E-06
21102 39 E/D 41 rs1201894498 0.1719 None gnomAD-2.1.1 4.03E-06
21102 39 E/D 41 rs1201894498 0.1719 None gnomAD-4.0.0 1.59315E-06
21102 39 E/K 41 rs1343764526 0.1719 None gnomAD-3.1.2 6.58E-06
21102 39 E/K 41 rs1343764526 0.1719 None gnomAD-4.0.0 3.10022E-06
21103 40 M/I 42 rs538999642 0.2204 None gnomAD-2.1.1 4.03E-06
21103 40 M/I 42 rs538999642 0.2204 None gnomAD-3.1.2 6.58E-06
21103 40 M/I 42 rs538999642 0.2204 None 1000 genomes 1.99681E-04
21103 40 M/I 42 rs538999642 0.2204 None gnomAD-4.0.0 6.57229E-06
21103 40 M/T 42 rs770900534 0.2204 None gnomAD-2.1.1 4.03E-06
21103 40 M/T 42 rs770900534 0.2204 None gnomAD-4.0.0 1.59315E-06
21103 40 M/V 42 rs1444195248 0.2204 None gnomAD-2.1.1 7.16E-06
21103 40 M/V 42 rs1444195248 0.2204 None gnomAD-3.1.2 6.58E-06
21103 40 M/V 42 rs1444195248 0.2204 None gnomAD-4.0.0 2.4802E-06
21105 42 P/L 44 rs773378006 0.3813 None gnomAD-2.1.1 4.03E-06
21105 42 P/L 44 rs773378006 0.3813 None gnomAD-4.0.0 4.77937E-06
21107 44 I/T 54 None 0.5938 None gnomAD-4.0.0 6.8456E-07
21108 45 A/V 55 rs769906829 0.6531 None gnomAD-2.1.1 4.03E-06
21108 45 A/V 55 rs769906829 0.6531 None gnomAD-4.0.0 2.73824E-06
21109 46 D/Y 56 None 1.1005 None gnomAD-4.0.0 1.59305E-06
21110 47 A/E 57 None 0.3191 None gnomAD-4.0.0 1.36913E-06
21110 47 A/G 57 rs370687831 0.3191 None gnomAD-2.1.1 1.43E-05
21110 47 A/G 57 rs370687831 0.3191 None gnomAD-3.1.2 6.58E-06
21110 47 A/G 57 rs370687831 0.3191 None gnomAD-4.0.0 8.06084E-06
21110 47 A/T 57 None 0.3191 None gnomAD-4.0.0 1.20032E-06
21110 47 A/V 57 rs370687831 0.3191 None gnomAD-2.1.1 1.36044E-04
21110 47 A/V 57 rs370687831 0.3191 None gnomAD-3.1.2 8.56E-05
21110 47 A/V 57 rs370687831 0.3191 None 1000 genomes 1.99681E-04
21110 47 A/V 57 rs370687831 0.3191 None gnomAD-4.0.0 1.22144E-04
21111 48 S/F 58 rs547033801 0.3636 None gnomAD-2.1.1 4.03E-06
21111 48 S/F 58 rs547033801 0.3636 None gnomAD-3.1.2 1.32E-05
21111 48 S/F 58 rs547033801 0.3636 None 1000 genomes 1.99681E-04
21111 48 S/F 58 rs547033801 0.3636 None gnomAD-4.0.0 4.33986E-06
21112 49 P/L 59 rs758801950 0.6782 None gnomAD-2.1.1 1.21E-05
21112 49 P/L 59 rs758801950 0.6782 None gnomAD-4.0.0 4.79173E-05
21113 50 D/A 60 rs748932912 0.7750 None gnomAD-2.1.1 1.21E-05
21113 50 D/A 60 rs748932912 0.7750 None gnomAD-4.0.0 6.16069E-06
21115 52 G/R 64 None 0.4005 None gnomAD-4.0.0 1.59294E-06
21115 52 G/S 64 rs1559556478 0.4005 None gnomAD-4.0.0 4.77882E-06
21116 53 W/C 65 rs1224580080 0.2089 None gnomAD-3.1.2 6.58E-06
21116 53 W/C 65 rs1224580080 0.2089 None gnomAD-4.0.0 6.57834E-06
21117 54 K/E 66 rs1400590737 0.7005 None gnomAD-2.1.1 4.03E-06
21117 54 K/E 66 rs1400590737 0.7005 None gnomAD-4.0.0 1.59297E-06
21117 54 K/Q 66 None 0.7005 None gnomAD-4.0.0 1.59297E-06
21118 55 R/G 67 None 0.3071 None gnomAD-4.0.0 6.84526E-07
21118 55 R/Q 67 rs755796313 0.3071 None gnomAD-2.1.1 8.07E-06
21118 55 R/Q 67 rs755796313 0.3071 None gnomAD-3.1.2 6.58E-06
21118 55 R/Q 67 rs755796313 0.3071 None gnomAD-4.0.0 1.11605E-05
21118 55 R/W 67 rs200726948 0.3071 None gnomAD-2.1.1 2.90054E-04
21118 55 R/W 67 rs200726948 0.3071 None gnomAD-3.1.2 1.77695E-04
21118 55 R/W 67 rs200726948 0.3071 None gnomAD-4.0.0 1.7113E-04
21119 56 C/S 68 None 0.1823 None gnomAD-4.0.0 1.20032E-06
21119 56 C/Y 68 rs577266000 0.1823 None gnomAD-2.1.1 4.03E-06
21119 56 C/Y 68 rs577266000 0.1823 None gnomAD-3.1.2 6.58E-06
21119 56 C/Y 68 rs577266000 0.1823 None gnomAD-4.0.0 1.116E-05
21122 59 A/T 72 rs377528392 0.9009 None gnomAD-2.1.1 4.03E-06
21122 59 A/T 72 rs377528392 0.9009 None gnomAD-3.1.2 6.58E-06
21122 59 A/T 72 rs377528392 0.9009 None gnomAD-4.0.0 2.56477E-06
21123 60 A/T 74 rs754944741 0.5815 None gnomAD-2.1.1 4.03E-06
21123 60 A/T 74 rs754944741 0.5815 None gnomAD-4.0.0 1.59292E-06
21125 62 L/F 77 rs1040226223 0.1270 None gnomAD-2.1.1 4.04E-06
21125 62 L/F 77 rs1040226223 0.1270 None gnomAD-4.0.0 1.59301E-06
21125 62 L/I 77 None 0.1270 None gnomAD-4.0.0 1.59301E-06
21126 63 V/I 83 rs2049411703 0.6346 None gnomAD-3.1.2 6.58E-06
21126 63 V/I 83 rs2049411703 0.6346 None gnomAD-4.0.0 2.03014E-06
21127 64 R/C 88 rs751590336 0.8323 None gnomAD-2.1.1 1.08E-05
21127 64 R/C 88 rs751590336 0.8323 None gnomAD-4.0.0 7.52999E-06
21127 64 R/H 88 rs201226615 0.8323 None gnomAD-2.1.1 1.21E-05
21127 64 R/H 88 rs201226615 0.8323 None gnomAD-3.1.2 1.32E-05
21127 64 R/H 88 rs201226615 0.8323 None gnomAD-4.0.0 1.11597E-05
21127 64 R/L 88 rs201226615 0.8323 None gnomAD-4.0.0 2.05363E-06
21128 65 K/E 89 rs2049409571 0.4292 None gnomAD-4.0.0 2.05362E-06
21129 66 E/K 90 rs2049409124 0.4533 None gnomAD-4.0.0 1.59314E-06
21130 67 F/L 91 rs1389556175 0.1988 None gnomAD-4.0.0 2.05369E-06
21133 70 T/A 94 rs766276741 0.5383 None gnomAD-2.1.1 1.21E-05
21133 70 T/A 94 rs766276741 0.5383 None gnomAD-3.1.2 6.58E-06
21133 70 T/A 94 rs766276741 0.5383 None gnomAD-4.0.0 3.10019E-06
21133 70 T/I 94 rs1576043145 0.5383 None gnomAD-4.0.0 1.36918E-06
21134 71 S/I 96 None 0.7623 None gnomAD-4.0.0 1.59341E-06
21134 71 S/N 96 None 0.7623 None gnomAD-4.0.0 1.59341E-06
21135 72 L/V 97 rs1218574817 0.1104 None gnomAD-2.1.1 4.04E-06
21135 72 L/V 97 rs1218574817 0.1104 None gnomAD-4.0.0 4.78037E-06
21136 73 D/E 98 rs1047829961 0.4191 None gnomAD-4.0.0 6.8466E-07
21136 73 D/G 98 rs773075736 0.4191 None gnomAD-2.1.1 8.09E-06
21136 73 D/G 98 rs773075736 0.4191 None gnomAD-4.0.0 4.78097E-06
21136 73 D/N 98 rs762901628 0.4191 None gnomAD-2.1.1 4.04E-06
21136 73 D/N 98 rs762901628 0.4191 None gnomAD-3.1.2 6.58E-06
21136 73 D/N 98 rs762901628 0.4191 None gnomAD-4.0.0 1.24021E-06
21139 76 Q/R 102 rs1576042907 0.2685 None gnomAD-4.0.0 1.20032E-06
21140 77 E/K 103 rs765307639 0.3549 None gnomAD-3.1.2 6.58E-06
21140 77 E/K 103 rs765307639 0.3549 None gnomAD-4.0.0 1.86058E-06
21140 77 E/Q 103 rs765307639 0.3549 None gnomAD-2.1.1 4.05E-06
21140 77 E/Q 103 rs765307639 0.3549 None gnomAD-3.1.2 6.58E-06
21140 77 E/Q 103 rs765307639 0.3549 None gnomAD-4.0.0 1.86058E-06
21141 78 Y/C 104 rs762123565 0.1228 None gnomAD-2.1.1 8.1E-06
21141 78 Y/C 104 rs762123565 0.1228 None gnomAD-4.0.0 3.18897E-06
21143 80 F/L 106 None 0.1099 None gnomAD-4.0.0 1.20032E-06
21143 80 F/S 106 None 0.1099 None gnomAD-4.0.0 1.595E-06
21145 82 V/A 108 None 0.0596 None gnomAD-4.0.0 1.20033E-06
21145 82 V/L 108 None 0.0596 None gnomAD-4.0.0 6.85038E-07
21145 82 V/M 108 rs768769006 0.0596 None gnomAD-2.1.1 4.07E-06
21145 82 V/M 108 rs768769006 0.0596 None gnomAD-3.1.2 6.58E-06
21145 82 V/M 108 rs768769006 0.0596 None gnomAD-4.0.0 3.10217E-06
21146 83 C/Y 109 rs373360112 0.1156 None gnomAD-2.1.1 1.22E-05
21146 83 C/Y 109 rs373360112 0.1156 None gnomAD-4.0.0 4.11121E-06
21147 84 A/S 110 None 0.0920 None gnomAD-4.0.0 1.37062E-06
21147 84 A/T 110 rs72646853 0.0920 None gnomAD-2.1.1 5.39335E-04
21147 84 A/T 110 rs72646853 0.0920 None gnomAD-3.1.2 3.15698E-04
21147 84 A/T 110 rs72646853 0.0920 None 1000 genomes 7.98722E-04
21147 84 A/T 110 rs72646853 0.0920 ARVC
Literature None
21147 84 A/T 110 rs72646853 0.0920 None gnomAD-4.0.0 4.20144E-04
21148 85 Q/H 111 None 0.2535 None gnomAD-4.0.0 1.59737E-06
21150 87 Q/H 113 None 0.7447 None gnomAD-4.0.0 6.85493E-07
21151 88 V/A 114 None 0.6531 None gnomAD-4.0.0 2.74231E-06
21151 88 V/I 114 rs1407254321 0.6531 None gnomAD-2.1.1 8.2E-06
21151 88 V/I 114 rs1407254321 0.6531 None gnomAD-4.0.0 3.1974E-06
21152 89 G/V 115 None 0.1954 None gnomAD-4.0.0 2.0573E-06
21153 90 I/T 117 rs772411127 0.5069 None gnomAD-2.1.1 4.38E-05
21153 90 I/T 117 rs772411127 0.5069 None gnomAD-3.1.2 3.29E-05
21153 90 I/T 117 rs772411127 0.5069 None gnomAD-4.0.0 1.86321E-05
21155 92 R/C 119 rs374727686 0.6760 None gnomAD-2.1.1 2.95E-05
21155 92 R/C 119 rs374727686 0.6760 None gnomAD-3.1.2 4.61E-05
21155 92 R/C 119 rs374727686 0.6760 None gnomAD-4.0.0 3.54365E-05
21155 92 R/H 119 rs373169150 0.6760 None gnomAD-2.1.1 4.8E-05
21155 92 R/H 119 rs373169150 0.6760 None gnomAD-3.1.2 5.26E-05
21155 92 R/H 119 rs373169150 0.6760 None gnomAD-4.0.0 6.03448E-05
21155 92 R/L 119 None 0.6760 None gnomAD-4.0.0 6.87085E-07
21156 93 P/S 120 None 0.3843 None gnomAD-4.0.0 1.60695E-06
21157 94 A/T 121 rs1195739289 0.1162 None gnomAD-4.0.0 1.60837E-06
21158 95 E/K 122 None 0.4206 None gnomAD-4.0.0 1.37511E-06
21159 96 L/P 123 None 0.2224 None gnomAD-4.0.0 1.20032E-06
21159 96 L/V 123 rs1218951803 0.2224 None gnomAD-2.1.1 4.23E-06
21159 96 L/V 123 rs1218951803 0.2224 None gnomAD-4.0.0 1.61256E-06
21161 98 E/G 125 rs765979598 0.8346 None gnomAD-4.0.0 1.37998E-06
21161 98 E/K 125 rs753274370 0.8346 None gnomAD-2.1.1 1.13E-05
21161 98 E/K 125 rs753274370 0.8346 None gnomAD-3.1.2 1.32E-05
21161 98 E/K 125 rs753274370 0.8346 None gnomAD-4.0.0 2.99388E-05
21162 99 A/P 126 None 0.2117 None gnomAD-4.0.0 2.76471E-06
21165 102 P/L 130 None 0.1074 None gnomAD-4.0.0 2.77185E-06
21165 102 P/R 130 None 0.1074 None gnomAD-4.0.0 6.92963E-07
21166 103 K/T 131 rs1315515272 0.7607 None gnomAD-2.1.1 4.42E-06
21166 103 K/T 131 rs1315515272 0.7607 None gnomAD-3.1.2 6.58E-06
21166 103 K/T 131 rs1315515272 0.7607 None gnomAD-4.0.0 6.57834E-06