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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
28056 2 P/A 2 None 0.1144 None gnomAD-4.0.0 1.59315E-06
28056 2 P/Q 2 None 0.1144 None gnomAD-4.0.0 1.59324E-06
28057 3 G/R 3 rs1219669291 0.2285 None gnomAD-2.1.1 4.03E-06
28057 3 G/R 3 rs1219669291 0.2285 None gnomAD-4.0.0 3.1863E-06
28058 4 P/R 4 rs1293214241 0.4150 None gnomAD-2.1.1 4.03E-06
28058 4 P/R 4 rs1293214241 0.4150 None gnomAD-4.0.0 3.18617E-06
28058 4 P/S 4 None 0.4150 None gnomAD-4.0.0 1.59313E-06
28059 5 P/A 5 rs1228328567 0.1340 None gnomAD-2.1.1 4.03E-06
28059 5 P/A 5 rs1228328567 0.1340 None gnomAD-4.0.0 3.1859E-06
28060 6 G/D 6 rs758626435 0.2488 None gnomAD-2.1.1 7.16E-06
28060 6 G/D 6 rs758626435 0.2488 None gnomAD-3.1.2 3.94E-05
28060 6 G/D 6 rs758626435 0.2488 None gnomAD-4.0.0 1.02573E-05
28061 7 P/L 7 None 0.8369 None gnomAD-4.0.0 1.36899E-06
28061 7 P/S 7 rs373806358 0.8369 None gnomAD-4.0.0 1.36898E-06
28061 7 P/T 7 rs373806358 0.8369 None gnomAD-2.1.1 4.03E-06
28061 7 P/T 7 rs373806358 0.8369 None gnomAD-3.1.2 6.57E-06
28061 7 P/T 7 rs373806358 0.8369 None gnomAD-4.0.0 3.7196E-06
28062 8 I/T 9 rs750669319 0.1637 None gnomAD-2.1.1 8.07E-06
28062 8 I/T 9 rs750669319 0.1637 None gnomAD-4.0.0 4.77742E-06
28063 9 R/C 11 rs539595292 0.6561 None gnomAD-2.1.1 2.51E-05
28063 9 R/C 11 rs539595292 0.6561 None gnomAD-3.1.2 1.97E-05
28063 9 R/C 11 rs539595292 0.6561 None 1000 genomes 1.99681E-04
28063 9 R/C 11 rs539595292 0.6561 None gnomAD-4.0.0 1.42571E-05
28063 9 R/H 11 rs570847832 0.6561 None gnomAD-2.1.1 8.47E-05
28063 9 R/H 11 rs570847832 0.6561 None gnomAD-3.1.2 3.29E-05
28063 9 R/H 11 rs570847832 0.6561 None 1000 genomes 1.99681E-04
28063 9 R/H 11 rs570847832 0.6561 None gnomAD-4.0.0 6.13723E-05
28064 10 I/T 12 rs1366264826 0.3027 None gnomAD-2.1.1 1.21E-05
28064 10 I/T 12 rs1366264826 0.3027 None gnomAD-4.0.0 3.42178E-06
28065 11 D/E 13 rs2154160302 0.4457 None gnomAD-3.1.2 6.57E-06
28065 11 D/E 13 rs2154160302 0.4457 None gnomAD-4.0.0 6.56676E-06
28065 11 D/H 13 rs764469970 0.4457 None gnomAD-2.1.1 2.82E-05
28065 11 D/H 13 rs764469970 0.4457 None gnomAD-3.1.2 6.57E-06
28065 11 D/H 13 rs764469970 0.4457 None gnomAD-4.0.0 1.91621E-05
28066 12 E/K 14 rs1703825463 0.5957 None gnomAD-4.0.0 2.05312E-06
28068 14 S/T 16 rs72648219 0.2062 None gnomAD-2.1.1 5.01E-05
28068 14 S/T 16 rs72648219 0.2062 None gnomAD-3.1.2 1.77438E-04
28068 14 S/T 16 rs72648219 0.2062 None gnomAD-4.0.0 2.54116E-05
28070 16 D/N 18 None 0.4893 None gnomAD-4.0.0 6.84334E-07
28071 17 S/N 19 rs1489303376 0.1460 None gnomAD-2.1.1 3.19E-05
28071 17 S/R 19 rs1169451357 0.1460 None gnomAD-2.1.1 4.03E-06
28071 17 S/R 19 rs1169451357 0.1460 None gnomAD-4.0.0 1.59194E-06
28072 18 I/K 20 rs1475606876 0.0899 None gnomAD-2.1.1 4.03E-06
28072 18 I/K 20 rs1475606876 0.0899 None gnomAD-4.0.0 1.36865E-06
28072 18 I/V 20 None 0.0899 None gnomAD-4.0.0 2.05298E-06
28074 20 I/V 22 rs1202396763 0.0910 None gnomAD-3.1.2 6.57E-06
28074 20 I/V 22 rs1202396763 0.0910 None gnomAD-4.0.0 6.57099E-06
28080 26 E/A 28 None 1.1115 None gnomAD-4.0.0 1.20032E-06
28080 26 E/Q 28 rs1198142735 1.1115 None gnomAD-3.1.2 6.57E-06
28080 26 E/Q 28 rs1198142735 1.1115 None gnomAD-4.0.0 2.5629E-06
28081 27 Y/S 29 None 0.2511 None gnomAD-4.0.0 1.59178E-06
28082 28 D/N 30 None 0.2709 None gnomAD-4.0.0 6.84315E-07
28083 29 G/S 31 None 0.0661 None gnomAD-4.0.0 4.80129E-06
28083 29 G/V 31 None 0.0661 None gnomAD-4.0.0 1.20032E-06
28084 30 G/S 32 rs547578610 0.2676 None gnomAD-2.1.1 2.42E-05
28084 30 G/S 32 rs547578610 0.2676 None gnomAD-3.1.2 1.97E-05
28084 30 G/S 32 rs547578610 0.2676 None 1000 genomes 5.99042E-04
28084 30 G/S 32 rs547578610 0.2676 None gnomAD-4.0.0 7.68748E-06
28085 31 C/R 33 rs2154160212 0.1626 None gnomAD-3.1.2 6.57E-06
28085 31 C/R 33 rs2154160212 0.1626 None gnomAD-4.0.0 6.56573E-06
28085 31 C/Y 33 None 0.1626 None gnomAD-4.0.0 1.59181E-06
28088 34 S/N 36 rs200450022 0.4159 None gnomAD-2.1.1 5.93633E-04
28088 34 S/N 36 rs200450022 0.4159 None gnomAD-3.1.2 6.11199E-04
28088 34 S/N 36 rs200450022 0.4159 None 1000 genomes 5.99042E-04
28088 34 S/N 36 rs200450022 0.4159 None gnomAD-4.0.0 1.23634E-03
28088 34 S/T 36 rs200450022 0.4159 None gnomAD-4.0.0 6.84295E-07
28089 35 N/S 37 None 0.2037 None gnomAD-4.0.0 2.40064E-06
28091 37 I/T 39 None 0.1550 None gnomAD-4.0.0 1.20032E-06
28091 37 I/V 39 rs886042615 0.1550 None gnomAD-2.1.1 4.03E-06
28091 37 I/V 39 rs886042615 0.1550 None gnomAD-3.1.2 6.57E-06
28091 37 I/V 39 rs886042615 0.1550 None gnomAD-4.0.0 3.71847E-06
28092 38 V/D 40 None 0.1026 None gnomAD-4.0.0 6.8428E-07
28092 38 V/G 40 rs761184333 0.1026 None gnomAD-2.1.1 4.03E-06
28092 38 V/G 40 rs761184333 0.1026 None gnomAD-3.1.2 1.31E-05
28092 38 V/G 40 rs761184333 0.1026 None gnomAD-4.0.0 3.09873E-06
28092 38 V/I 40 None 0.1026 None gnomAD-4.0.0 1.59168E-06
28092 38 V/L 40 None 0.1026 None gnomAD-4.0.0 1.59168E-06
28094 40 K/N 42 rs746801951 0.2611 None gnomAD-2.1.1 4.03E-06
28094 40 K/N 42 rs746801951 0.2611 None gnomAD-4.0.0 1.59168E-06
28094 40 K/R 42 None 0.2611 None gnomAD-4.0.0 3.18337E-06
28097 43 T/A 50 None 0.3227 None gnomAD-4.0.0 1.20032E-06
28098 44 T/I 54 rs746141297 0.8464 None gnomAD-2.1.1 4.03E-06
28098 44 T/I 54 rs746141297 0.8464 None gnomAD-4.0.0 6.84296E-07
28098 44 T/N 54 rs746141297 0.8464 None gnomAD-2.1.1 4.03E-06
28098 44 T/N 54 rs746141297 0.8464 None gnomAD-4.0.0 1.36859E-06
28100 46 T/I 63 rs779244941 0.8896 None gnomAD-2.1.1 4.03E-06
28100 46 T/I 63 rs779244941 0.8896 None gnomAD-4.0.0 3.18338E-06
28100 46 T/K 63 None 0.8896 None gnomAD-4.0.0 1.59169E-06
28101 47 T/I 64 rs1483336920 0.5129 None gnomAD-2.1.1 3.18E-05
28101 47 T/I 64 rs1483336920 0.5129 None gnomAD-3.1.2 1.31E-05
28101 47 T/I 64 rs1483336920 0.5129 None gnomAD-4.0.0 6.40658E-06
28102 48 W/C 65 rs1338535777 0.2195 None gnomAD-4.0.0 1.59169E-06
28102 48 W/R 65 rs1553565393 0.2195 None gnomAD-4.0.0 1.59163E-06
28103 49 H/Q 66 rs749278779 0.5714 None gnomAD-2.1.1 4.03E-06
28103 49 H/Q 66 rs749278779 0.5714 None gnomAD-3.1.2 6.57E-06
28103 49 H/Q 66 rs749278779 0.5714 None gnomAD-4.0.0 3.84412E-06
28104 50 I/V 67 rs778359308 0.4772 None gnomAD-2.1.1 4.03E-06
28104 50 I/V 67 rs778359308 0.4772 None gnomAD-4.0.0 3.18337E-06
28108 54 A/P 75 None 0.6027 None gnomAD-4.0.0 6.84287E-07
28108 54 A/S 75 None 0.6027 None gnomAD-4.0.0 6.84287E-07
28109 55 V/F 77 rs1173902848 0.1368 None gnomAD-2.1.1 4.03E-06
28109 55 V/F 77 rs1173902848 0.1368 None gnomAD-4.0.0 3.18337E-06
28109 55 V/I 77 None 0.1368 None gnomAD-4.0.0 1.59168E-06
28110 56 A/S 83 None 0.6008 None gnomAD-4.0.0 1.36858E-06
28110 56 A/T 83 None 0.6008 None gnomAD-4.0.0 6.84288E-07
28111 57 R/K 88 rs1060500463 0.8003 None gnomAD-4.0.0 3.1835E-06
28112 58 T/I 89 rs1429490203 0.1902 None gnomAD-2.1.1 4.03E-06
28112 58 T/I 89 rs1429490203 0.1902 None gnomAD-3.1.2 6.57E-06
28112 58 T/I 89 rs1429490203 0.1902 None gnomAD-4.0.0 3.71853E-06
28112 58 T/K 89 None 0.1902 None gnomAD-4.0.0 6.84286E-07
28113 59 S/F 90 rs753201539 0.3224 None gnomAD-2.1.1 4.03E-06
28113 59 S/F 90 rs753201539 0.3224 None gnomAD-4.0.0 1.02644E-05
28113 59 S/T 90 None 0.3224 None gnomAD-4.0.0 1.59172E-06
28113 59 S/Y 90 rs753201539 0.3224 None gnomAD-2.1.1 4.03E-06
28114 60 I/V 91 rs1703767853 0.2083 None gnomAD-3.1.2 6.57E-06
28114 60 I/V 91 rs1703767853 0.2083 None gnomAD-4.0.0 3.09873E-06
28116 62 I/T 93 rs1468127080 0.1134 None gnomAD-2.1.1 4.03E-06
28116 62 I/T 93 rs1468127080 0.1134 None gnomAD-3.1.2 6.57E-06
28116 62 I/T 93 rs1468127080 0.1134 None gnomAD-4.0.0 5.57783E-06
28117 63 V/A 94 None 0.4613 None gnomAD-4.0.0 1.5917E-06
28117 63 V/F 94 None 0.4613 None gnomAD-4.0.0 1.20032E-06
28118 64 R/C 96 rs56057221 0.8362 None gnomAD-2.1.1 6.02293E-03
28118 64 R/C 96 rs56057221 0.8362 None gnomAD-3.1.2 1.80138E-02
28118 64 R/C 96 rs56057221 0.8362 None 1000 genomes 1.61741E-02
28118 64 R/C 96 rs56057221 0.8362 None gnomAD-4.0.0 3.41543E-03
28118 64 R/G 96 None 0.8362 None gnomAD-4.0.0 3.42152E-06
28118 64 R/H 96 rs72648220 0.8362 None gnomAD-2.1.1 3.63E-05
28118 64 R/H 96 rs72648220 0.8362 None gnomAD-3.1.2 5.26E-05
28118 64 R/H 96 rs72648220 0.8362 None 1000 genomes 1.99681E-04
28118 64 R/H 96 rs72648220 0.8362 DCM
Literature None
28118 64 R/H 96 rs72648220 0.8362 None gnomAD-4.0.0 1.85924E-05
28118 64 R/L 96 rs72648220 0.8362 None gnomAD-2.1.1 2.15E-05
28118 64 R/L 96 rs72648220 0.8362 None gnomAD-3.1.2 2.63E-05
28118 64 R/L 96 rs72648220 0.8362 None gnomAD-4.0.0 1.23959E-05
28118 64 R/P 96 None 0.8362 None gnomAD-4.0.0 6.84312E-07
28119 65 L/P 97 rs1461216101 0.1374 None gnomAD-2.1.1 4.03E-06
28119 65 L/P 97 rs1461216101 0.1374 None gnomAD-4.0.0 1.59173E-06
28120 66 T/I 98 None 0.5839 None gnomAD-4.0.0 1.36861E-06
28120 66 T/K 98 rs1261670625 0.5839 None gnomAD-2.1.1 4.03E-06
28120 66 T/K 98 rs1261670625 0.5839 None gnomAD-4.0.0 2.60035E-05
28121 67 T/I 99 None 0.4291 None gnomAD-4.0.0 6.843E-07
28121 67 T/K 99 rs397517726 0.4291 None gnomAD-2.1.1 2.15E-05
28121 67 T/K 99 rs397517726 0.4291 None gnomAD-3.1.2 4.6E-05
28121 67 T/K 99 rs397517726 0.4291 None gnomAD-4.0.0 1.05359E-05
28121 67 T/R 99 rs397517726 0.4291 None gnomAD-2.1.1 4.03E-06
28121 67 T/R 99 rs397517726 0.4291 None gnomAD-3.1.2 6.57E-06
28121 67 T/R 99 rs397517726 0.4291 None gnomAD-4.0.0 1.23942E-06
28122 68 G/R 100 rs371768793 0.4541 None gnomAD-2.1.1 4.03E-06
28122 68 G/R 100 rs371768793 0.4541 None gnomAD-3.1.2 6.57E-06
28122 68 G/R 100 rs371768793 0.4541 None gnomAD-4.0.0 1.20032E-06
28122 68 G/V 100 rs1340329525 0.4541 None gnomAD-2.1.1 3.19E-05
28122 68 G/V 100 rs1340329525 0.4541 None gnomAD-3.1.2 6.57E-06
28122 68 G/V 100 rs1340329525 0.4541 None gnomAD-4.0.0 6.5716E-06
28123 69 S/N 102 rs1703752029 0.2378 None gnomAD-4.0.0 6.84307E-07
28124 70 E/K 103 rs1295072546 0.3040 None gnomAD-2.1.1 3.19E-05
28124 70 E/K 103 rs1295072546 0.3040 None gnomAD-4.0.0 1.36864E-06
28125 71 Y/C 104 rs763653948 0.1447 None gnomAD-2.1.1 4.03E-06
28125 71 Y/C 104 rs763653948 0.1447 None gnomAD-4.0.0 1.59183E-06
28128 74 R/C 107 rs1375604948 0.1181 None gnomAD-3.1.2 6.57E-06
28128 74 R/C 107 rs1375604948 0.1181 None gnomAD-4.0.0 1.23969E-05
28128 74 R/G 107 rs1375604948 0.1181 None gnomAD-2.1.1 4.03E-06
28128 74 R/G 107 rs1375604948 0.1181 None gnomAD-4.0.0 6.84391E-07
28128 74 R/H 107 rs367596354 0.1181 None gnomAD-2.1.1 8.07E-06
28128 74 R/H 107 rs367596354 0.1181 None gnomAD-3.1.2 4.6E-05
28128 74 R/H 107 rs367596354 0.1181 None gnomAD-4.0.0 1.05377E-05
28129 75 V/D 108 None 0.0759 None gnomAD-4.0.0 1.59238E-06
28129 75 V/F 108 rs752974639 0.0759 None gnomAD-2.1.1 4.3E-05
28129 75 V/F 108 rs752974639 0.0759 None gnomAD-3.1.2 3.28E-05
28129 75 V/F 108 rs752974639 0.0759 None gnomAD-4.0.0 7.06613E-05
28130 76 C/R 109 None 0.0759 None gnomAD-4.0.0 1.20032E-06
28130 76 C/W 109 None 0.0759 None gnomAD-4.0.0 6.84538E-07
28131 77 A/T 110 None 0.0883 None gnomAD-4.0.0 6.84604E-07
28133 79 N/S 112 rs727505053 0.0965 None gnomAD-2.1.1 7.17E-06
28133 79 N/S 112 rs727505053 0.0965 None gnomAD-3.1.2 6.57E-06
28133 79 N/S 112 rs727505053 0.0965 None gnomAD-4.0.0 9.92366E-06
28134 80 R/C 113 rs771002170 0.6055 None gnomAD-2.1.1 3.94E-05
28134 80 R/C 113 rs771002170 0.6055 None gnomAD-3.1.2 1.31E-05
28134 80 R/C 113 rs771002170 0.6055 None gnomAD-4.0.0 1.67469E-05
28134 80 R/H 113 rs777785413 0.6055 None gnomAD-2.1.1 1.21E-05
28134 80 R/H 113 rs777785413 0.6055 None gnomAD-3.1.2 6.57E-06
28134 80 R/H 113 rs777785413 0.6055 None gnomAD-4.0.0 6.82345E-06
28134 80 R/L 113 rs777785413 0.6055 None gnomAD-2.1.1 8.08E-06
28134 80 R/L 113 rs777785413 0.6055 None gnomAD-3.1.2 6.57E-06
28134 80 R/L 113 rs777785413 0.6055 None gnomAD-4.0.0 5.58282E-06
28135 81 Y/C 114 None 0.3300 None gnomAD-4.0.0 1.20032E-06
28136 82 G/R 115 rs879234686 0.2030 None gnomAD-2.1.1 3.18E-05
28136 82 G/R 115 rs879234686 0.2030 None gnomAD-3.1.2 1.31E-05
28136 82 G/R 115 rs879234686 0.2030 None gnomAD-4.0.0 1.31427E-05
28137 83 K/E 117 None 0.4617 None gnomAD-4.0.0 2.04055E-05
28137 83 K/M 117 None 0.4617 None gnomAD-4.0.0 1.20032E-06
28138 84 S/N 118 rs975160153 0.1226 None gnomAD-2.1.1 8.1E-06
28138 84 S/N 118 rs975160153 0.1226 None gnomAD-4.0.0 4.79356E-06
28140 86 Y/C 120 None 0.3774 None gnomAD-4.0.0 1.20032E-06
28140 86 Y/H 120 rs1703729439 0.3774 None gnomAD-4.0.0 1.59848E-06
28141 87 S/G 121 None 0.1694 None gnomAD-4.0.0 2.74299E-06
28141 87 S/I 121 rs748707866 0.1694 None gnomAD-3.1.2 6.57E-06
28141 87 S/I 121 rs748707866 0.1694 None gnomAD-4.0.0 6.57022E-06
28141 87 S/R 121 None 0.1694 None gnomAD-4.0.0 1.60286E-06
28141 87 S/T 121 rs748707866 0.1694 None gnomAD-2.1.1 1.62E-05
28141 87 S/T 121 rs748707866 0.1694 None gnomAD-4.0.0 6.40158E-06
28143 89 S/F 123 rs878971321 0.1717 None gnomAD-3.1.2 6.57E-06
28143 89 S/F 123 rs878971321 0.1717 None gnomAD-4.0.0 6.57039E-06
28145 91 A/V 126 rs765357961 0.3507 None gnomAD-2.1.1 4.07E-06
28145 91 A/V 126 rs765357961 0.3507 None gnomAD-3.1.2 2.63E-05
28145 91 A/V 126 rs765357961 0.3507 None gnomAD-4.0.0 2.23817E-05
28146 92 V/A 127 rs755354570 0.2052 None gnomAD-2.1.1 1.09E-05
28146 92 V/A 127 rs755354570 0.2052 None gnomAD-3.1.2 2.63E-05
28146 92 V/A 127 rs755354570 0.2052 None gnomAD-4.0.0 3.29632E-05
28146 92 V/I 127 rs371366196 0.2052 None gnomAD-2.1.1 4.7E-05
28146 92 V/I 127 rs371366196 0.2052 None gnomAD-3.1.2 5.26E-05
28146 92 V/I 127 rs371366196 0.2052 None gnomAD-4.0.0 7.02819E-05
28147 93 V/A 128 rs1285081649 0.3664 None gnomAD-2.1.1 4.08E-06
28147 93 V/A 128 rs1285081649 0.3664 None gnomAD-4.0.0 2.0612E-06
28147 93 V/F 128 rs1318887192 0.3664 None gnomAD-2.1.1 4.09E-06
28147 93 V/F 128 rs1318887192 0.3664 None gnomAD-4.0.0 1.60743E-06
28147 93 V/L 128 None 0.3664 None gnomAD-4.0.0 1.60743E-06
28148 94 A/G 130 rs751860205 0.0904 None gnomAD-2.1.1 8.18E-06
28148 94 A/G 130 rs751860205 0.0904 None gnomAD-3.1.2 6.57E-06
28148 94 A/G 130 rs751860205 0.0904 None gnomAD-4.0.0 4.35482E-06
28148 94 A/T 130 rs1703714627 0.0904 None gnomAD-4.0.0 1.60799E-06
28148 94 A/V 130 rs751860205 0.0904 None gnomAD-2.1.1 3.18E-05
28148 94 A/V 130 rs751860205 0.0904 None gnomAD-3.1.2 6.57E-06
28148 94 A/V 130 rs751860205 0.0904 None gnomAD-4.0.0 6.57117E-06
28150 96 Y/C 132 None 0.9331 None gnomAD-4.0.0 1.60752E-06
28150 96 Y/H 132 rs397517727 0.9331 None gnomAD-2.1.1 9.83E-05
28150 96 Y/H 132 rs397517727 0.9331 None gnomAD-3.1.2 1.31E-05
28150 96 Y/H 132 rs397517727 0.9331 None 1000 genomes 3.99361E-04
28150 96 Y/H 132 rs397517727 0.9331 None gnomAD-4.0.0 3.73312E-05