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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6199 1 P/A 1 None 0.1605 None gnomAD-4.0.0 1.59492E-06
6199 1 P/L 1 rs758776829 0.1605 None gnomAD-4.0.0 1.20032E-06
6200 2 T/I 2 rs1046417798 0.5547 None gnomAD-4.0.0 1.20032E-06
6202 4 I/M 4 rs1041345186 0.4545 None gnomAD-3.1.2 6.57E-06
6202 4 I/M 4 rs1041345186 0.4545 None gnomAD-4.0.0 6.57324E-06
6202 4 I/N 4 None 0.4545 None gnomAD-4.0.0 6.84698E-07
6202 4 I/T 4 rs1298665270 0.4545 None gnomAD-2.1.1 8.07E-06
6202 4 I/T 4 rs1298665270 0.4545 None gnomAD-3.1.2 6.57E-06
6202 4 I/T 4 rs1298665270 0.4545 None gnomAD-4.0.0 6.20091E-06
6202 4 I/V 4 None 0.4545 None gnomAD-4.0.0 1.20032E-06
6203 5 R/G 5 None 0.3538 None gnomAD-4.0.0 1.59392E-06
6204 6 E/D 7 None 0.5817 None gnomAD-4.0.0 6.8457E-07
6204 6 E/G 7 None 0.5817 None gnomAD-4.0.0 1.20032E-06
6204 6 E/K 7 rs949942051 0.5817 None gnomAD-4.0.0 1.36917E-06
6206 8 K/N 9 None 0.8052 None gnomAD-4.0.0 6.8456E-07
6207 9 P/A 11 rs755803926 0.5753 None gnomAD-2.1.1 4.03E-06
6207 9 P/A 11 rs755803926 0.5753 None gnomAD-4.0.0 1.5931E-06
6207 9 P/S 11 None 0.5753 None gnomAD-4.0.0 3.18619E-06
6208 10 V/L 13 rs759379332 0.2868 None gnomAD-2.1.1 4.03E-06
6208 10 V/L 13 rs759379332 0.2868 None gnomAD-4.0.0 1.59263E-06
6208 10 V/M 13 rs759379332 0.2868 None gnomAD-2.1.1 1.21E-05
6208 10 V/M 13 rs759379332 0.2868 None gnomAD-4.0.0 1.2741E-05
6209 11 E/K 14 rs751253663 0.4039 None gnomAD-2.1.1 4.03E-06
6209 11 E/K 14 rs751253663 0.4039 None gnomAD-4.0.0 1.59212E-06
6209 11 E/Q 14 rs751253663 0.4039 None gnomAD-2.1.1 4.03E-06
6209 11 E/Q 14 rs751253663 0.4039 None gnomAD-4.0.0 1.59212E-06
6210 12 V/I 16 rs766360972 0.1587 None gnomAD-2.1.1 1.07E-05
6210 12 V/I 16 rs766360972 0.1587 None gnomAD-3.1.2 3.29E-05
6210 12 V/I 16 rs766360972 0.1587 None gnomAD-4.0.0 6.08971E-06
6211 13 V/A 18 rs773463426 0.3941 None gnomAD-2.1.1 4.03E-06
6211 13 V/A 18 rs773463426 0.3941 None gnomAD-4.0.0 1.59202E-06
6211 13 V/I 18 rs1236160546 0.3941 None gnomAD-2.1.1 3.18E-05
6211 13 V/I 18 rs1236160546 0.3941 None gnomAD-3.1.2 1.31E-05
6211 13 V/I 18 rs1236160546 0.3941 None gnomAD-4.0.0 1.31447E-05
6213 15 Y/C 24 rs1489995255 0.5545 None gnomAD-4.0.0 1.59189E-06
6213 15 Y/F 24 rs1489995255 0.5545 None gnomAD-2.1.1 4.03E-06
6213 15 Y/F 24 rs1489995255 0.5545 None gnomAD-4.0.0 1.59189E-06
6215 17 D/A 26 rs1267800654 0.4080 None gnomAD-2.1.1 8.05E-06
6215 17 D/A 26 rs1267800654 0.4080 None gnomAD-4.0.0 3.18369E-06
6216 18 V/M 28 rs369242073 0.1682 None gnomAD-2.1.1 8.05E-06
6216 18 V/M 28 rs369242073 0.1682 None gnomAD-3.1.2 2.63E-05
6216 18 V/M 28 rs369242073 0.1682 None gnomAD-4.0.0 1.54952E-05
6217 19 E/G 29 None 0.6490 None gnomAD-4.0.0 1.36862E-06
6218 20 L/R 30 rs727505193 0.1403 None gnomAD-2.1.1 1.43E-05
6218 20 L/R 30 rs727505193 0.1403 None gnomAD-3.1.2 4.6E-05
6218 20 L/R 30 rs727505193 0.1403 None gnomAD-4.0.0 1.11563E-05
6219 21 E/D 31 rs1282711943 0.2972 None gnomAD-2.1.1 4.03E-06
6219 21 E/D 31 rs1282711943 0.2972 None gnomAD-4.0.0 6.84296E-07
6219 21 E/K 31 rs72648948 0.2972 None gnomAD-2.1.1 5.72E-05
6219 21 E/K 31 rs72648948 0.2972 None gnomAD-3.1.2 2.16917E-04
6219 21 E/K 31 rs72648948 0.2972 None gnomAD-4.0.0 3.03693E-05
6219 21 E/Q 31 rs72648948 0.2972 None gnomAD-2.1.1 3.19E-05
6219 21 E/Q 31 rs72648948 0.2972 None gnomAD-3.1.2 1.97E-05
6219 21 E/Q 31 rs72648948 0.2972 None gnomAD-4.0.0 3.71869E-06
6219 21 E/V 31 rs2080005563 0.2972 None gnomAD-4.0.0 1.59174E-06
6220 22 C/G 33 rs935844203 0.0922 None gnomAD-4.0.0 6.84301E-07
6220 22 C/R 33 None 0.0922 None gnomAD-4.0.0 1.3686E-06
6220 22 C/S 33 rs191692293 0.0922 None gnomAD-2.1.1 5.28881E-04
6220 22 C/S 33 rs191692293 0.0922 None gnomAD-3.1.2 1.72212E-03
6220 22 C/S 33 rs191692293 0.0922 None 1000 genomes 1.99681E-03
6220 22 C/S 33 rs191692293 0.0922 None gnomAD-4.0.0 6.84301E-07
6220 22 C/Y 33 rs191692293 0.0922 None gnomAD-4.0.0 6.84301E-07
6221 23 E/D 34 rs369544339 0.2383 None gnomAD-2.1.1 8.58E-05
6221 23 E/D 34 rs369544339 0.2383 None gnomAD-3.1.2 1.05162E-04
6221 23 E/D 34 rs369544339 0.2383 None 1000 genomes 1.99681E-04
6221 23 E/D 34 rs369544339 0.2383 None gnomAD-4.0.0 1.11549E-04
6221 23 E/G 34 rs1365356147 0.2383 None gnomAD-4.0.0 1.5917E-06
6222 24 V/A 35 None 0.0874 None gnomAD-4.0.0 1.20032E-06
6223 25 T/M 38 rs794727817 0.4424 None gnomAD-2.1.1 8.05E-06
6223 25 T/M 38 rs794727817 0.4424 None gnomAD-4.0.0 1.50547E-05
6224 26 G/E 40 rs1168353457 0.3189 None gnomAD-2.1.1 8.05E-06
6224 26 G/E 40 rs1168353457 0.3189 None gnomAD-4.0.0 1.59173E-06
6224 26 G/R 40 rs2154307306 0.3189 None gnomAD-4.0.0 1.59172E-06
6225 27 T/A 41 rs794727818 0.7454 None gnomAD-4.0.0 1.36859E-06
6225 27 T/K 41 None 0.7454 None gnomAD-4.0.0 1.59172E-06
6225 27 T/S 41 None 0.7454 None gnomAD-4.0.0 6.84296E-07
6226 28 P/H 42 rs746345160 0.4432 None gnomAD-3.1.2 1.97E-05
6226 28 P/H 42 rs746345160 0.4432 None gnomAD-4.0.0 1.9728E-05
6226 28 P/L 42 rs746345160 0.4432 None gnomAD-2.1.1 8.05E-06
6226 28 P/L 42 rs746345160 0.4432 None gnomAD-3.1.2 6.58E-06
6226 28 P/L 42 rs746345160 0.4432 None gnomAD-4.0.0 8.05745E-06
6226 28 P/S 42 rs1466849790 0.4432 None gnomAD-2.1.1 4.02E-06
6226 28 P/S 42 rs1466849790 0.4432 None gnomAD-4.0.0 2.05288E-06
6226 28 P/T 42 rs1466849790 0.4432 None gnomAD-4.0.0 6.84292E-07
6227 29 P/L 43 rs376846228 0.7805 None gnomAD-2.1.1 1.43E-05
6227 29 P/L 43 rs376846228 0.7805 None gnomAD-3.1.2 3.29E-05
6227 29 P/L 43 rs376846228 0.7805 None gnomAD-4.0.0 8.05746E-06
6228 30 F/S 44 rs1192303175 0.1925 None gnomAD-2.1.1 4.03E-06
6228 30 F/S 44 rs1192303175 0.1925 None gnomAD-4.0.0 1.59172E-06
6229 31 E/D 45 rs376583582 0.7701 None gnomAD-3.1.2 1.31E-05
6229 31 E/D 45 rs376583582 0.7701 None gnomAD-4.0.0 3.84422E-06
6229 31 E/G 45 None 0.7701 None gnomAD-4.0.0 1.36858E-06
6230 32 V/I 46 None 0.2562 None gnomAD-4.0.0 1.20032E-06
6231 33 T/A 47 None 0.4146 None gnomAD-4.0.0 1.36857E-06
6233 35 L/P 49 None 0.2105 None gnomAD-4.0.0 1.20032E-06
6234 36 K/Q 50 None 0.1290 None gnomAD-4.0.0 1.59168E-06
6235 37 N/K 51 rs766055257 0.4853 None gnomAD-2.1.1 4.03E-06
6235 37 N/K 51 rs766055257 0.4853 None gnomAD-3.1.2 6.58E-06
6235 37 N/K 51 rs766055257 0.4853 None gnomAD-4.0.0 3.71877E-06
6235 37 N/S 51 rs2079993234 0.4853 None gnomAD-3.1.2 6.57E-06
6235 37 N/S 51 rs2079993234 0.4853 None gnomAD-4.0.0 2.56265E-06
6235 37 N/Y 51 None 0.4853 None gnomAD-4.0.0 2.05287E-06
6236 38 N/D 52 rs758455641 0.9127 None gnomAD-2.1.1 2.01E-05
6236 38 N/D 52 rs758455641 0.9127 None gnomAD-3.1.2 6.57E-06
6236 38 N/D 52 rs758455641 0.9127 None gnomAD-4.0.0 1.02511E-05
6237 39 R/G 55 None 0.7633 None gnomAD-4.0.0 1.59166E-06
6237 39 R/W 55 rs750368911 0.7633 None gnomAD-2.1.1 1.21E-05
6237 39 R/W 55 rs750368911 0.7633 None gnomAD-4.0.0 6.36663E-06
6239 41 I/M 58 None 0.1371 None gnomAD-4.0.0 1.59165E-06
6239 41 I/S 58 rs1221710663 0.1371 None gnomAD-2.1.1 4.03E-06
6239 41 I/S 58 rs1221710663 0.1371 None gnomAD-4.0.0 1.59163E-06
6240 42 R/L 59 rs761993856 0.6629 None gnomAD-2.1.1 4.03E-06
6240 42 R/L 59 rs761993856 0.6629 None gnomAD-4.0.0 6.84279E-07
6240 42 R/Q 59 rs761993856 0.6629 None gnomAD-2.1.1 1.32317E-04
6240 42 R/Q 59 rs761993856 0.6629 None gnomAD-3.1.2 3.29E-05
6240 42 R/Q 59 rs761993856 0.6629 None gnomAD-4.0.0 4.21451E-05
6241 43 S/G 70 None 0.4909 None gnomAD-4.0.0 1.20032E-06
6241 43 S/N 70 None 0.4909 None gnomAD-4.0.0 1.20032E-06
6241 43 S/R 70 rs1015857991 0.4909 None gnomAD-2.1.1 4.03E-06
6241 43 S/R 70 rs1015857991 0.4909 None gnomAD-3.1.2 6.58E-06
6241 43 S/R 70 rs1015857991 0.4909 None gnomAD-4.0.0 4.33843E-06
6242 44 S/G 73 None 0.2788 None gnomAD-4.0.0 2.40064E-06
6243 45 K/E 102 rs764402049 1.0702 None gnomAD-2.1.1 4.03E-06
6243 45 K/E 102 rs764402049 1.0702 None gnomAD-3.1.2 6.57E-06
6243 45 K/E 102 rs764402049 1.0702 None gnomAD-4.0.0 5.12524E-06
6244 46 K/E 115 None 0.1518 None gnomAD-4.0.0 1.20032E-06
6244 46 K/N 115 None 0.1518 None gnomAD-4.0.0 1.5916E-06
6244 46 K/R 115 rs1448766260 0.1518 None gnomAD-2.1.1 4.03E-06
6244 46 K/R 115 rs1448766260 0.1518 None gnomAD-4.0.0 1.5916E-06
6246 48 T/A 122 rs1553920950 0.4584 None gnomAD-4.0.0 3.60097E-06
6246 48 T/I 122 rs1252010867 0.4584 None gnomAD-2.1.1 3.19E-05
6246 48 T/I 122 rs1252010867 0.4584 None gnomAD-3.1.2 1.31E-05
6246 48 T/I 122 rs1252010867 0.4584 None gnomAD-4.0.0 9.13489E-06
6247 49 L/W 123 rs2079986312 0.3101 None gnomAD-3.1.2 6.57E-06
6247 49 L/W 123 rs2079986312 0.3101 None gnomAD-4.0.0 2.56276E-06
6249 51 D/E 127 rs774843545 0.6451 None gnomAD-2.1.1 2.02E-05
6249 51 D/E 127 rs774843545 0.6451 None gnomAD-4.0.0 3.42138E-06
6249 51 D/N 127 rs201263441 0.6451 None gnomAD-2.1.1 3.722E-04
6249 51 D/N 127 rs201263441 0.6451 None gnomAD-3.1.2 2.10396E-04
6249 51 D/N 127 rs201263441 0.6451 None gnomAD-4.0.0 1.87172E-04
6250 52 R/K 130 rs952849958 0.7877 None gnomAD-2.1.1 4.03E-06
6250 52 R/K 130 rs952849958 0.7877 None gnomAD-3.1.2 6.57E-06
6250 52 R/K 130 rs952849958 0.7877 None gnomAD-4.0.0 4.95807E-06
6253 55 V/G 135 rs1236936612 0.1970 None gnomAD-2.1.1 4.03E-06
6253 55 V/G 135 rs1236936612 0.1970 None gnomAD-4.0.0 1.59159E-06
6253 55 V/L 135 rs754852812 0.1970 None gnomAD-4.0.0 2.25809E-05
6255 57 N/D 137 rs2079983036 0.2143 None gnomAD-3.1.2 6.57E-06
6255 57 N/D 137 rs2079983036 0.2143 None gnomAD-4.0.0 2.5627E-06
6255 57 N/K 137 None 0.2143 None gnomAD-4.0.0 6.8428E-07
6256 58 L/F 138 rs747713653 0.0815 None gnomAD-3.1.2 6.58E-06
6256 58 L/F 138 rs747713653 0.0815 None gnomAD-4.0.0 1.85934E-06
6256 58 L/I 138 rs747713653 0.0815 None gnomAD-2.1.1 4.03E-06
6256 58 L/I 138 rs747713653 0.0815 None gnomAD-4.0.0 6.84281E-07
6256 58 L/R 138 rs780526976 0.0815 None gnomAD-2.1.1 3.58E-05
6256 58 L/R 138 rs780526976 0.0815 None gnomAD-3.1.2 1.97E-05
6256 58 L/R 138 rs780526976 0.0815 None gnomAD-4.0.0 4.74189E-05
6257 59 H/R 139 rs371299041 0.3153 None gnomAD-2.1.1 1.07E-05
6257 59 H/R 139 rs371299041 0.3153 None gnomAD-3.1.2 1.31E-05
6257 59 H/R 139 rs371299041 0.3153 None gnomAD-4.0.0 1.17755E-05
6257 59 H/Y 139 None 0.3153 None gnomAD-4.0.0 1.20032E-06
6258 60 I/K 140 rs746617599 0.0809 None gnomAD-2.1.1 8.07E-06
6259 61 T/A 141 rs780049500 0.3254 None gnomAD-2.1.1 1.00818E-04
6259 61 T/A 141 rs780049500 0.3254 None gnomAD-3.1.2 6.57E-06
6259 61 T/A 141 rs780049500 0.3254 None gnomAD-4.0.0 3.65663E-05
6259 61 T/N 141 rs72648949 0.3254 None gnomAD-2.1.1 4.03E-06
6259 61 T/N 141 rs72648949 0.3254 None gnomAD-4.0.0 6.84286E-07
6259 61 T/S 141 rs72648949 0.3254 None gnomAD-2.1.1 3.08967E-03
6259 61 T/S 141 rs72648949 0.3254 None gnomAD-3.1.2 2.62369E-03
6259 61 T/S 141 rs72648949 0.3254 None 1000 genomes 5.99042E-04
6259 61 T/S 141 rs72648949 0.3254 None gnomAD-4.0.0 2.74608E-03
6260 62 K/N 143 None 0.7287 None gnomAD-4.0.0 1.59169E-06
6260 62 K/Q 143 rs375652574 0.7287 None gnomAD-2.1.1 2.51E-05
6260 62 K/Q 143 rs375652574 0.7287 None gnomAD-3.1.2 4.6E-05
6260 62 K/Q 143 rs375652574 0.7287 None gnomAD-4.0.0 5.70167E-05
6261 63 C/R 144 rs1438614038 0.1303 None gnomAD-3.1.2 1.31E-05
6261 63 C/R 144 rs1438614038 0.1303 None gnomAD-4.0.0 3.84435E-06
6261 63 C/Y 144 rs1060500581 0.1303 None gnomAD-2.1.1 8.07E-06
6261 63 C/Y 144 rs1060500581 0.1303 None gnomAD-4.0.0 4.77515E-06
6262 64 D/G 145 rs757214692 0.2312 None gnomAD-2.1.1 1.61E-05
6262 64 D/G 145 rs757214692 0.2312 None gnomAD-3.1.2 1.32E-05
6262 64 D/G 145 rs757214692 0.2312 None gnomAD-4.0.0 2.56301E-05
6263 65 P/A 146 rs753985729 0.4980 None gnomAD-4.0.0 6.843E-07
6263 65 P/L 146 None 0.4980 None gnomAD-4.0.0 1.59172E-06
6263 65 P/S 146 rs753985729 0.4980 None gnomAD-2.1.1 8.07E-06
6263 65 P/S 146 rs753985729 0.4980 None gnomAD-4.0.0 2.0529E-06
6265 67 D/G 149 rs1403981596 0.1189 None gnomAD-2.1.1 4.03E-06
6265 67 D/G 149 rs1403981596 0.1189 None gnomAD-4.0.0 1.59169E-06
6265 67 D/H 149 rs764050491 0.1189 None gnomAD-4.0.0 1.5917E-06
6266 68 T/A 151 rs761009610 0.3171 None gnomAD-2.1.1 8.07E-06
6266 68 T/A 151 rs761009610 0.3171 None gnomAD-3.1.2 1.31E-05
6266 68 T/A 151 rs761009610 0.3171 None gnomAD-4.0.0 7.68805E-06
6266 68 T/I 151 None 0.3171 None gnomAD-4.0.0 1.59174E-06
6268 70 E/V 153 rs1378963436 0.5829 None gnomAD-2.1.1 4.03E-06
6268 70 E/V 153 rs1378963436 0.5829 None gnomAD-4.0.0 1.59178E-06
6269 71 Y/C 154 None 0.1121 None gnomAD-4.0.0 1.36863E-06
6270 72 Q/P 155 None 0.2789 None gnomAD-4.0.0 1.59194E-06
6270 72 Q/R 155 None 0.2789 None gnomAD-4.0.0 1.59194E-06
6271 73 C/G 156 rs2079970402 0.0730 None gnomAD-4.0.0 1.59192E-06
6271 73 C/Y 156 None 0.0730 None gnomAD-4.0.0 1.59205E-06
6272 74 I/L 157 rs1385000092 0.2944 None gnomAD-2.1.1 4.03E-06
6272 74 I/L 157 rs1385000092 0.2944 None gnomAD-4.0.0 4.77594E-06
6272 74 I/T 157 rs1274096400 0.2944 None gnomAD-2.1.1 3.19E-05
6272 74 I/T 157 rs1274096400 0.2944 None gnomAD-3.1.2 6.57E-06
6272 74 I/T 157 rs1274096400 0.2944 None gnomAD-4.0.0 6.57177E-06
6272 74 I/V 157 None 0.2944 None gnomAD-4.0.0 1.59198E-06
6273 75 V/L 158 None 0.0848 None gnomAD-4.0.0 4.79096E-06
6274 76 S/P 159 None 0.2334 None gnomAD-4.0.0 2.05339E-06
6275 77 N/S 161 rs184412722 0.2008 None gnomAD-2.1.1 3.51379E-03
6275 77 N/S 161 rs184412722 0.2008 None gnomAD-3.1.2 1.8139E-03
6275 77 N/S 161 rs184412722 0.2008 None 1000 genomes 5.99042E-03
6275 77 N/S 161 rs184412722 0.2008 None gnomAD-4.0.0 2.22775E-03
6278 80 G/S 164 rs397517488 0.3024 None gnomAD-2.1.1 1.79E-05
6278 80 G/S 164 rs397517488 0.3024 None gnomAD-3.1.2 6.57E-06
6278 80 G/S 164 rs397517488 0.3024 None gnomAD-4.0.0 1.61299E-05
6279 81 S/R 165 rs776251068 0.5807 None gnomAD-2.1.1 8.08E-06
6279 81 S/R 165 rs776251068 0.5807 None gnomAD-3.1.2 6.57E-06
6279 81 S/R 165 rs776251068 0.5807 None gnomAD-4.0.0 3.85259E-06
6280 82 C/S 166 rs768034029 0.1210 None gnomAD-2.1.1 4.05E-06
6280 82 C/S 166 rs768034029 0.1210 None gnomAD-4.0.0 1.59696E-06
6280 82 C/Y 166 rs768034029 0.1210 None gnomAD-3.1.2 6.57E-06
6280 82 C/Y 166 rs768034029 0.1210 None gnomAD-4.0.0 6.57298E-06
6282 84 C/F 169 rs2079961331 0.1081 None gnomAD-3.1.2 6.57E-06
6282 84 C/F 169 rs2079961331 0.1081 None gnomAD-4.0.0 2.0299E-06
6282 84 C/R 169 None 0.1081 None gnomAD-4.0.0 3.60097E-06
6283 85 S/G 171 rs779861459 0.3619 None gnomAD-2.1.1 2.16E-05
6283 85 S/G 171 rs779861459 0.3619 None gnomAD-3.1.2 4.6E-05
6283 85 S/G 171 rs779861459 0.3619 None gnomAD-4.0.0 7.44794E-06
6283 85 S/I 171 None 0.3619 None gnomAD-4.0.0 6.85547E-07
6283 85 S/N 171 rs1283369258 0.3619 None gnomAD-4.0.0 2.05664E-06
6283 85 S/R 171 None 0.3619 None gnomAD-4.0.0 1.37078E-06
6284 86 T/A 172 None 0.1332 None gnomAD-4.0.0 1.20032E-06
6284 86 T/I 172 None 0.1332 None gnomAD-4.0.0 1.59887E-06
6285 87 R/I 173 None 0.6693 None gnomAD-4.0.0 6.85758E-07
6285 87 R/S 173 None 0.6693 None gnomAD-4.0.0 1.59963E-06
6285 87 R/T 173 rs2079958809 0.6693 None gnomAD-3.1.2 6.57E-06
6285 87 R/T 173 rs2079958809 0.6693 None gnomAD-4.0.0 7.4516E-06
6286 88 V/A 174 rs372581135 0.1413 None gnomAD-2.1.1 4.14E-06
6286 88 V/A 174 rs372581135 0.1413 None gnomAD-4.0.0 3.24726E-06
6286 88 V/I 174 rs149131555 0.1413 None gnomAD-2.1.1 5.87146E-04
6286 88 V/I 174 rs149131555 0.1413 None gnomAD-3.1.2 1.77464E-03
6286 88 V/I 174 rs149131555 0.1413 None 1000 genomes 3.39457E-03
6286 88 V/I 174 rs149131555 0.1413 None gnomAD-4.0.0 3.30432E-04
6287 89 A/T 175 None 0.2109 None gnomAD-4.0.0 1.64281E-06
6288 90 L/Q 177 rs1381105393 0.3010 None gnomAD-2.1.1 4.25E-06
6288 90 L/Q 177 rs1381105393 0.3010 None gnomAD-4.0.0 3.30111E-06
6288 90 L/V 177 rs745682900 0.3010 None gnomAD-2.1.1 4.21E-06
6288 90 L/V 177 rs745682900 0.3010 None gnomAD-4.0.0 1.64361E-06