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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
28252 1 P/S 1 rs780908799 0.4474 None gnomAD-2.1.1 4.03E-06
28252 1 P/S 1 rs780908799 0.4474 None gnomAD-4.0.0 2.73681E-06
28252 1 P/T 1 rs780908799 0.4474 None gnomAD-2.1.1 4.03E-06
28252 1 P/T 1 rs780908799 0.4474 None gnomAD-3.1.2 1.31E-05
28252 1 P/T 1 rs780908799 0.4474 None gnomAD-4.0.0 1.31499E-05
28253 2 C/R 2 None 0.1073 None gnomAD-4.0.0 1.36841E-06
28253 2 C/Y 2 rs754491290 0.1073 None gnomAD-2.1.1 8.05E-06
28253 2 C/Y 2 rs754491290 0.1073 None gnomAD-4.0.0 2.0526E-06
28254 3 D/N 3 None 0.3095 None gnomAD-4.0.0 1.20032E-06
28255 4 P/L 4 rs1703598147 0.3161 None gnomAD-4.0.0 1.20032E-06
28255 4 P/S 4 rs1703599575 0.3161 None gnomAD-3.1.2 6.58E-06
28255 4 P/S 4 rs1703599575 0.3161 None gnomAD-4.0.0 6.5799E-06
28256 5 P/A 5 None 0.1191 None gnomAD-4.0.0 1.20032E-06
28256 5 P/S 5 None 0.1191 None gnomAD-4.0.0 3.60097E-06
28256 5 P/T 5 None 0.1191 None gnomAD-4.0.0 1.20032E-06
28259 8 P/A 9 None 0.1358 None gnomAD-4.0.0 6.842E-07
28259 8 P/L 9 None 0.1358 None gnomAD-4.0.0 6.842E-07
28259 8 P/R 9 None 0.1358 None gnomAD-4.0.0 1.3684E-06
28259 8 P/S 9 rs1264580282 0.1358 None gnomAD-2.1.1 4.02E-06
28259 8 P/S 9 rs1264580282 0.1358 None gnomAD-4.0.0 6.842E-07
28259 8 P/T 9 None 0.1358 None gnomAD-4.0.0 6.842E-07
28260 9 E/D 11 rs370547473 0.7457 None gnomAD-2.1.1 4.02E-05
28260 9 E/D 11 rs370547473 0.7457 None gnomAD-3.1.2 9.2E-05
28260 9 E/D 11 rs370547473 0.7457 None gnomAD-4.0.0 1.79707E-05
28262 11 T/I 13 rs1703591532 0.4387 None gnomAD-3.1.2 6.58E-06
28262 11 T/I 13 rs1703591532 0.4387 None gnomAD-4.0.0 6.57514E-06
28263 12 N/D 14 rs762665595 0.5826 None gnomAD-4.0.0 3.60097E-06
28263 12 N/Y 14 rs762665595 0.5826 None gnomAD-2.1.1 4.02E-06
28264 13 I/N 15 None 0.1947 None gnomAD-4.0.0 1.59116E-06
28265 14 T/K 16 rs376874908 0.2917 None gnomAD-4.0.0 1.5912E-06
28268 17 S/A 19 None 0.1453 None gnomAD-4.0.0 1.59116E-06
28268 17 S/L 19 None 0.1453 None gnomAD-4.0.0 1.59118E-06
28271 20 L/F 22 None 0.0917 None gnomAD-4.0.0 2.40064E-06
28272 21 K/Q 23 rs1703583612 0.6107 None gnomAD-3.1.2 6.57E-06
28272 21 K/Q 23 rs1703583612 0.6107 None gnomAD-4.0.0 4.95747E-06
28273 22 W/C 24 rs72648222 0.1148 None gnomAD-4.0.0 2.40064E-06
28274 23 S/C 25 rs1393654285 0.4708 None gnomAD-2.1.1 4.02E-06
28274 23 S/C 25 rs1393654285 0.4708 None gnomAD-4.0.0 1.5912E-06
28275 24 K/N 26 rs765009136 0.7607 None gnomAD-2.1.1 4.02E-06
28275 24 K/N 26 rs765009136 0.7607 None gnomAD-4.0.0 1.3684E-06
28275 24 K/Q 26 None 0.7607 None gnomAD-4.0.0 1.20033E-06
28276 25 P/L 27 None 0.1548 None gnomAD-4.0.0 1.59123E-06
28278 27 Y/D 29 rs1336515508 0.3431 None gnomAD-2.1.1 4.02E-06
28278 27 Y/D 29 rs1336515508 0.3431 None gnomAD-3.1.2 6.57E-06
28278 27 Y/D 29 rs1336515508 0.3431 None gnomAD-4.0.0 2.56221E-06
28280 29 G/D 31 None 0.0877 None gnomAD-4.0.0 1.20032E-05
28280 29 G/V 31 rs771907926 0.0877 None gnomAD-4.0.0 1.80048E-05
28282 31 A/P 33 None 0.1494 None gnomAD-4.0.0 6.84212E-07
28282 31 A/T 33 rs1703576117 0.1494 None gnomAD-3.1.2 6.57E-06
28282 31 A/T 33 rs1703576117 0.1494 None gnomAD-4.0.0 1.23941E-06
28283 32 K/N 34 None 0.7671 None gnomAD-4.0.0 1.59124E-06
28283 32 K/R 34 rs545841306 0.7671 None gnomAD-2.1.1 3.19E-05
28283 32 K/R 34 rs545841306 0.7671 None gnomAD-3.1.2 4.6E-05
28283 32 K/R 34 rs545841306 0.7671 None 1000 genomes 1.99681E-04
28283 32 K/R 34 rs545841306 0.7671 None gnomAD-4.0.0 8.11853E-06
28284 33 I/T 35 rs1462392007 0.1641 None gnomAD-4.0.0 1.59128E-06
28284 33 I/V 35 rs1408628454 0.1641 None gnomAD-4.0.0 3.18249E-06
28285 34 T/I 36 None 0.3102 None gnomAD-4.0.0 1.59127E-06
28285 34 T/S 36 rs577272800 0.3102 None gnomAD-2.1.1 4.02E-06
28285 34 T/S 36 rs577272800 0.3102 None gnomAD-3.1.2 6.57E-06
28285 34 T/S 36 rs577272800 0.3102 None 1000 genomes 1.99681E-04
28285 34 T/S 36 rs577272800 0.3102 None gnomAD-4.0.0 6.56659E-06
28286 35 G/R 37 rs553949797 0.0974 None gnomAD-2.1.1 2.5E-05
28286 35 G/R 37 rs553949797 0.0974 None gnomAD-3.1.2 5.26E-05
28286 35 G/R 37 rs553949797 0.0974 None 1000 genomes 1.99681E-04
28286 35 G/R 37 rs553949797 0.0974 None gnomAD-4.0.0 2.04952E-05
28287 36 Y/F 38 rs1559296734 0.1191 None gnomAD-4.0.0 3.42107E-06
28287 36 Y/H 38 rs1406227768 0.1191 None gnomAD-4.0.0 1.59128E-06
28287 36 Y/N 38 None 0.1191 None gnomAD-4.0.0 1.59128E-06
28288 37 I/L 39 None 0.1927 None gnomAD-4.0.0 6.84213E-07
28288 37 I/N 39 None 0.1927 None gnomAD-4.0.0 6.84225E-07
28288 37 I/T 39 None 0.1927 None gnomAD-4.0.0 4.10535E-06
28288 37 I/V 39 rs775883370 0.1927 None gnomAD-2.1.1 4.02E-06
28288 37 I/V 39 rs775883370 0.1927 None gnomAD-4.0.0 8.89476E-06
28289 38 V/A 40 rs534008710 0.0861 None gnomAD-2.1.1 1.21E-05
28289 38 V/A 40 rs534008710 0.0861 None 1000 genomes 1.99681E-04
28289 38 V/A 40 rs534008710 0.0861 None gnomAD-4.0.0 4.78954E-06
28290 39 E/Q 41 None 0.1228 None gnomAD-4.0.0 1.36846E-06
28291 40 R/C 42 rs192152102 0.2932 None gnomAD-2.1.1 7.14276E-04
28291 40 R/C 42 rs192152102 0.2932 None gnomAD-3.1.2 4.34033E-04
28291 40 R/C 42 rs192152102 0.2932 None 1000 genomes 3.99361E-04
28291 40 R/C 42 rs192152102 0.2932 None gnomAD-4.0.0 5.85006E-04
28291 40 R/H 42 rs774924903 0.2932 None gnomAD-2.1.1 3.21E-05
28291 40 R/H 42 rs774924903 0.2932 None gnomAD-3.1.2 1.97E-05
28291 40 R/H 42 rs774924903 0.2932 None gnomAD-4.0.0 3.40863E-05
28291 40 R/S 42 None 0.2932 None gnomAD-4.0.0 6.84238E-07
28293 42 E/G 44 rs879026651 0.2689 None gnomAD-4.0.0 1.59137E-06
28294 43 L/V 50 rs747855990 0.2309 None gnomAD-2.1.1 4.02E-06
28294 43 L/V 50 rs747855990 0.2309 None gnomAD-4.0.0 1.59139E-06
28295 44 P/L 54 rs1414095201 0.6953 None gnomAD-2.1.1 3.19E-05
28295 44 P/L 54 rs1414095201 0.6953 None gnomAD-3.1.2 6.58E-06
28295 44 P/L 54 rs1414095201 0.6953 None gnomAD-4.0.0 6.57523E-06
28297 46 G/D 63 rs1200686560 0.2934 None gnomAD-2.1.1 4.02E-06
28297 46 G/D 63 rs1200686560 0.2934 None gnomAD-4.0.0 1.59146E-06
28297 46 G/S 63 rs780963952 0.2934 None gnomAD-2.1.1 4.02E-06
28297 46 G/S 63 rs780963952 0.2934 None gnomAD-4.0.0 2.40064E-06
28298 47 R/L 64 rs187270666 0.7246 None gnomAD-3.1.2 6.57E-06
28298 47 R/L 64 rs187270666 0.7246 None gnomAD-4.0.0 1.23952E-06
28298 47 R/Q 64 None 0.7246 None gnomAD-2.1.1 1.44735E-03
28298 47 R/Q 64 None 0.7246 None gnomAD-3.1.2 1.1505E-03
28298 47 R/Q 64 None 0.7246 None 1000 genomes 5.99042E-04
28298 47 R/Q 64 None 0.7246 None gnomAD-4.0.0 6.59377E-04
28298 47 R/W 64 rs779581886 0.7246 None gnomAD-2.1.1 2.01E-05
28298 47 R/W 64 rs779581886 0.7246 None gnomAD-3.1.2 6.58E-06
28298 47 R/W 64 rs779581886 0.7246 None gnomAD-4.0.0 9.9164E-06
28300 49 L/P 66 rs1703551325 0.4346 None gnomAD-3.1.2 6.57E-06
28300 49 L/P 66 rs1703551325 0.4346 None gnomAD-4.0.0 6.57246E-06
28301 50 K/R 67 rs779856458 0.3191 None gnomAD-2.1.1 4.03E-06
28301 50 K/R 67 rs779856458 0.3191 None gnomAD-4.0.0 1.59164E-06
28301 50 K/T 67 None 0.3191 None gnomAD-4.0.0 1.59164E-06
28302 51 C/S 68 None 0.1630 None gnomAD-4.0.0 1.20032E-06
28303 52 N/Y 69 rs1314927590 0.1222 None gnomAD-2.1.1 4.03E-06
28303 52 N/Y 69 rs1314927590 0.1222 None gnomAD-3.1.2 6.57E-06
28303 52 N/Y 69 rs1314927590 0.1222 None gnomAD-4.0.0 6.5722E-06
28305 54 T/I 72 None 0.7968 None gnomAD-4.0.0 2.73733E-06
28305 54 T/S 72 None 0.7968 None gnomAD-4.0.0 6.84332E-07
28306 55 N/D 75 rs758424234 0.5127 None gnomAD-2.1.1 7.65E-05
28306 55 N/D 75 rs758424234 0.5127 None gnomAD-4.0.0 3.48997E-05
28306 55 N/H 75 None 0.5127 None gnomAD-4.0.0 6.84308E-07
28307 56 I/T 77 rs1224788527 0.0896 None gnomAD-3.1.2 1.31E-05
28307 56 I/T 77 rs1224788527 0.0896 None gnomAD-4.0.0 3.71872E-06
28307 56 I/V 77 None 0.0896 None gnomAD-4.0.0 1.20033E-06
28308 57 Q/K 83 rs794729516 0.7808 None gnomAD-2.1.1 4.03E-06
28308 57 Q/K 83 rs794729516 0.7808 None gnomAD-4.0.0 1.09496E-05
28308 57 Q/P 83 rs201674674 0.7808 None gnomAD-2.1.1 2.03909E-04
28308 57 Q/P 83 rs201674674 0.7808 None gnomAD-3.1.2 2.23446E-04
28308 57 Q/P 83 rs201674674 0.7808 None 1000 genomes 1.99681E-04
28308 57 Q/P 83 rs201674674 0.7808 None gnomAD-4.0.0 2.60909E-04
28309 58 E/K 88 rs1383001734 0.7595 None gnomAD-2.1.1 4.03E-06
28310 59 T/I 89 rs765062342 0.2220 None gnomAD-2.1.1 8.06E-06
28310 59 T/I 89 rs765062342 0.2220 None gnomAD-4.0.0 3.18382E-06
28311 60 Y/C 90 None 0.3468 None gnomAD-4.0.0 1.20033E-06
28312 61 F/C 91 rs1703534719 0.1751 None gnomAD-4.0.0 1.59178E-06
28313 62 E/G 92 rs896539539 0.3484 None gnomAD-4.0.0 1.59184E-06
28314 63 V/A 93 rs1442636431 0.1142 None gnomAD-2.1.1 4.03E-06
28314 63 V/A 93 rs1442636431 0.1142 None gnomAD-4.0.0 1.36862E-06
28314 63 V/E 93 rs1442636431 0.1142 None gnomAD-4.0.0 6.84309E-07
28314 63 V/I 93 rs754089695 0.1142 None gnomAD-2.1.1 4.03E-06
28314 63 V/I 93 rs754089695 0.1142 None gnomAD-4.0.0 5.47458E-06
28315 64 T/S 94 rs1369979989 0.4657 None gnomAD-2.1.1 4.03E-06
28315 64 T/S 94 rs1369979989 0.4657 None gnomAD-3.1.2 1.31E-05
28315 64 T/S 94 rs1369979989 0.4657 None gnomAD-4.0.0 7.43744E-06
28316 65 E/K 96 None 0.7989 None gnomAD-4.0.0 6.84317E-07
28316 65 E/Q 96 rs183238138 0.7989 None gnomAD-2.1.1 3.58E-05
28316 65 E/Q 96 rs183238138 0.7989 None gnomAD-3.1.2 9.86E-05
28316 65 E/Q 96 rs183238138 0.7989 None 1000 genomes 1.99681E-04
28316 65 E/Q 96 rs183238138 0.7989 None gnomAD-4.0.0 1.79727E-05
28317 66 L/F 97 None 0.1029 None gnomAD-4.0.0 1.20032E-06
28317 66 L/I 97 rs1167807939 0.1029 None gnomAD-3.1.2 6.57E-06
28317 66 L/I 97 rs1167807939 0.1029 None gnomAD-4.0.0 6.57324E-06
28319 68 E/A 99 rs903892310 0.3788 None gnomAD-2.1.1 4.03E-06
28319 68 E/A 99 rs903892310 0.3788 None gnomAD-4.0.0 6.36685E-06
28319 68 E/D 99 None 0.3788 None gnomAD-4.0.0 1.20032E-06
28319 68 E/K 99 None 0.3788 None gnomAD-4.0.0 1.59175E-06
28320 69 D/N 100 rs767491713 0.7110 None gnomAD-2.1.1 8.06E-06
28320 69 D/N 100 rs767491713 0.7110 None gnomAD-4.0.0 5.47424E-06
28321 70 Q/R 102 rs760149145 0.2087 None gnomAD-2.1.1 8.06E-06
28321 70 Q/R 102 rs760149145 0.2087 None gnomAD-4.0.0 3.42139E-06
28322 71 R/C 103 rs774978209 0.4261 None gnomAD-2.1.1 2.42E-05
28322 71 R/C 103 rs774978209 0.4261 None gnomAD-3.1.2 3.94E-05
28322 71 R/C 103 rs774978209 0.4261 None gnomAD-4.0.0 2.72708E-05
28322 71 R/H 103 rs373532064 0.4261 None gnomAD-2.1.1 5.36E-05
28322 71 R/H 103 rs373532064 0.4261 None gnomAD-3.1.2 8.54E-05
28322 71 R/H 103 rs373532064 0.4261 None gnomAD-4.0.0 1.13414E-04
28323 72 Y/F 104 rs1285180382 0.0901 None gnomAD-2.1.1 2.82E-05
28323 72 Y/F 104 rs1285180382 0.0901 None gnomAD-3.1.2 1.64286E-04
28323 72 Y/F 104 rs1285180382 0.0901 None gnomAD-4.0.0 2.04511E-05
28324 73 E/K 105 None 0.1364 None gnomAD-4.0.0 1.59155E-06
28326 75 R/G 107 rs749633038 0.1165 None gnomAD-2.1.1 4.03E-06
28326 75 R/G 107 rs749633038 0.1165 None gnomAD-4.0.0 6.84265E-07
28326 75 R/P 107 rs200843338 0.1165 None gnomAD-2.1.1 4.03E-06
28326 75 R/P 107 rs200843338 0.1165 None gnomAD-4.0.0 1.36851E-06
28326 75 R/Q 107 rs200843338 0.1165 None gnomAD-2.1.1 2.43132E-04
28326 75 R/Q 107 rs200843338 0.1165 None gnomAD-3.1.2 1.31496E-04
28326 75 R/Q 107 rs200843338 0.1165 None 1000 genomes 1.99681E-04
28326 75 R/Q 107 rs200843338 0.1165 None gnomAD-4.0.0 2.00167E-04
28326 75 R/W 107 rs749633038 0.1165 None gnomAD-2.1.1 3.22E-05
28326 75 R/W 107 rs749633038 0.1165 None gnomAD-3.1.2 1.97E-05
28326 75 R/W 107 rs749633038 0.1165 None gnomAD-4.0.0 2.16923E-05
28327 76 V/I 108 None 0.0698 None gnomAD-4.0.0 1.20032E-06
28328 77 F/L 109 rs1703507521 0.1288 None gnomAD-4.0.0 1.20032E-06
28329 78 A/E 110 rs1208499717 0.0913 None gnomAD-4.0.0 3.18282E-06
28329 78 A/S 110 None 0.0913 None gnomAD-4.0.0 1.59137E-06
28329 78 A/T 110 rs1330177891 0.0913 None gnomAD-2.1.1 3.19E-05
28329 78 A/T 110 rs1330177891 0.0913 None gnomAD-3.1.2 6.57E-06
28329 78 A/T 110 rs1330177891 0.0913 None gnomAD-4.0.0 6.57479E-06
28332 81 A/V 113 None 0.4055 None gnomAD-4.0.0 3.60097E-06
28333 82 A/T 114 None 0.3770 None gnomAD-3.1.2 6.57E-06
28333 82 A/T 114 None 0.3770 None gnomAD-4.0.0 6.57419E-06
28333 82 A/V 114 rs886042586 0.3770 None gnomAD-2.1.1 1.07E-05
28333 82 A/V 114 rs886042586 0.3770 None gnomAD-3.1.2 1.97E-05
28333 82 A/V 114 rs886042586 0.3770 None gnomAD-4.0.0 6.19718E-06
28334 83 D/N 115 None 0.8313 None gnomAD-4.0.0 6.84207E-07
28334 83 D/Y 115 None 0.8313 None gnomAD-4.0.0 6.84207E-07
28335 84 S/A 116 rs147895770 0.2625 None gnomAD-2.1.1 4.02E-06
28335 84 S/A 116 rs147895770 0.2625 None gnomAD-3.1.2 4.6E-05
28335 84 S/A 116 rs147895770 0.2625 None 1000 genomes 1.99681E-04
28335 84 S/A 116 rs147895770 0.2625 None gnomAD-4.0.0 4.21361E-05
28335 84 S/L 116 rs1703498485 0.2625 None gnomAD-3.1.2 6.58E-06
28335 84 S/L 116 rs1703498485 0.2625 None gnomAD-4.0.0 6.57505E-06
28336 85 V/G 117 None 0.3454 None gnomAD-4.0.0 3.60097E-06
28336 85 V/L 117 rs375593513 0.3454 None gnomAD-2.1.1 8.05E-06
28336 85 V/L 117 rs375593513 0.3454 None gnomAD-3.1.2 1.31E-05
28336 85 V/L 117 rs375593513 0.3454 None gnomAD-4.0.0 3.09842E-05
28337 86 S/C 118 None 0.0984 None gnomAD-4.0.0 1.59119E-06
28337 86 S/G 118 rs1703494767 0.0984 None gnomAD-3.1.2 6.57E-06
28337 86 S/G 118 rs1703494767 0.0984 None gnomAD-4.0.0 6.57073E-06
28337 86 S/I 118 None 0.0984 None gnomAD-4.0.0 2.73678E-06
28337 86 S/T 118 None 0.0984 None gnomAD-4.0.0 6.84194E-07
28338 87 E/D 119 None 0.5939 None gnomAD-4.0.0 1.59116E-06
28342 91 S/P 123 None 0.2284 None gnomAD-4.0.0 1.59116E-06
28343 92 T/N 124 None 0.2172 None gnomAD-4.0.0 1.20032E-06
28343 92 T/S 124 rs1703488961 0.2172 None gnomAD-4.0.0 1.20032E-06
28344 93 G/R 125 rs757065143 0.2567 None gnomAD-2.1.1 4.02E-06
28344 93 G/R 125 rs757065143 0.2567 None gnomAD-3.1.2 6.57E-06
28344 93 G/R 125 rs757065143 0.2567 None gnomAD-4.0.0 6.57307E-06
28345 94 P/L 126 rs1453883691 0.4855 None gnomAD-2.1.1 1.21E-05
28345 94 P/L 126 rs1453883691 0.4855 None gnomAD-4.0.0 6.36456E-06
28346 95 I/L 127 rs912296403 0.1992 None gnomAD-3.1.2 6.57E-06
28346 95 I/L 127 rs912296403 0.1992 None gnomAD-4.0.0 2.02992E-06
28346 95 I/N 127 None 0.1992 None gnomAD-4.0.0 1.59113E-06
28347 96 I/R 129 rs397517731 0.4461 None gnomAD-2.1.1 4.02E-06
28347 96 I/R 129 rs397517731 0.4461 None gnomAD-3.1.2 1.31E-05
28347 96 I/R 129 rs397517731 0.4461 None gnomAD-4.0.0 1.85899E-06
28347 96 I/T 129 rs397517731 0.4461 None gnomAD-2.1.1 1.61E-05
28347 96 I/T 129 rs397517731 0.4461 None gnomAD-3.1.2 6.57E-06
28347 96 I/T 129 rs397517731 0.4461 None gnomAD-4.0.0 2.04489E-05
28347 96 I/V 129 rs1553563774 0.4461 None gnomAD-4.0.0 2.05256E-06
28348 97 V/I 130 rs546413805 0.0724 None gnomAD-2.1.1 4.02E-06
28348 97 V/I 130 rs546413805 0.0724 None gnomAD-3.1.2 1.31E-05
28348 97 V/I 130 rs546413805 0.0724 None 1000 genomes 3.99361E-04
28348 97 V/I 130 rs546413805 0.0724 None gnomAD-4.0.0 3.09812E-06
28350 99 D/N 132 rs1337835797 1.0856 None gnomAD-2.1.1 4.02E-06
28350 99 D/N 132 rs1337835797 1.0856 None gnomAD-3.1.2 6.57E-06
28350 99 D/N 132 rs1337835797 1.0856 None gnomAD-4.0.0 6.57168E-06