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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 90 100 110
V I L R T S L E V K R G D E I A L D A S I S G S P Y P T I T W I K D E N V I V P E E I K K R A A P L V R R R K G E V Q E E E P F V L P L T Q R L S I D N S K K G E S Q L R V R D S L R P D H G L Y M I K V E N D H G I A K A P C T V S V L D T P G P P I N F V F E D I R K T S V L C K W E P P L D D G G S E I I N Y T L E K K D K T K P D S E W I V V T S T L R H C K Y S V T K L I E G K E Y L F R V R A E N R F G P G P P C V S K P L V A K D P
V I L R T S L E V K R G D E I A L D A S I S G S P Y P T I T W I K D E N V I V P E E I K K R A A P L V R R R K G E V Q E E E P F V L P L T Q R L S I D N S K K G E S Q L R V R D S L R P D H G L Y M I K V E N D H G I A K A P C T V S V - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
17251 1 V/I 1 rs1304051107 0.2831 None gnomAD-2.1.1 4.13E-06
17251 1 V/I 1 rs1304051107 0.2831 None gnomAD-4.0.0 2.06186E-06
17253 3 L/P 3 None 0.1935 None gnomAD-4.0.0 3.20605E-06
17253 3 L/Q 3 rs747840389 0.1935 None gnomAD-2.1.1 4.1E-06
17253 3 L/Q 3 rs747840389 0.1935 None gnomAD-4.0.0 1.60303E-06
17254 4 R/K 4 rs370986897 0.2657 None gnomAD-4.0.0 1.20032E-06
17256 6 S/R 11 rs794729454 0.4797 None gnomAD-4.0.0 2.40064E-06
17259 9 V/M 16 None 0.1230 None gnomAD-4.0.0 1.20032E-06
17261 11 R/Q 23 rs201825412 0.5964 None gnomAD-2.1.1 1.15139E-04
17261 11 R/Q 23 rs201825412 0.5964 None gnomAD-3.1.2 1.51419E-04
17261 11 R/Q 23 rs201825412 0.5964 None gnomAD-4.0.0 3.01478E-04
17262 12 G/S 24 rs2154198516 0.2868 None gnomAD-4.0.0 4.78417E-06
17263 13 D/E 25 rs768268605 0.4304 None gnomAD-4.0.0 6.84725E-07
17263 13 D/H 25 None 0.4304 None gnomAD-4.0.0 9.60257E-06
17263 13 D/N 25 None 0.4304 None gnomAD-4.0.0 2.40064E-06
17264 14 E/K 26 rs566710566 0.3745 None gnomAD-2.1.1 4.05E-06
17264 14 E/K 26 rs566710566 0.3745 None gnomAD-3.1.2 6.58E-06
17264 14 E/K 26 rs566710566 0.3745 None 1000 genomes 1.99681E-04
17264 14 E/K 26 rs566710566 0.3745 None gnomAD-4.0.0 6.57652E-06
17266 16 A/T 29 None 0.2018 None gnomAD-4.0.0 1.20033E-06
17267 17 L/F 30 rs758364988 0.1005 None gnomAD-2.1.1 1.21E-05
17267 17 L/F 30 rs758364988 0.1005 None gnomAD-4.0.0 4.78184E-06
17268 18 D/A 31 None 0.4051 None gnomAD-4.0.0 4.10815E-06
17269 19 A/P 33 rs778693629 0.1375 None gnomAD-4.0.0 3.42358E-06
17269 19 A/S 33 rs778693629 0.1375 None gnomAD-2.1.1 1.79E-05
17269 19 A/S 33 rs778693629 0.1375 None gnomAD-3.1.2 5.27E-05
17269 19 A/S 33 rs778693629 0.1375 None gnomAD-4.0.0 1.05434E-05
17269 19 A/T 33 None 0.1375 None gnomAD-3.1.2 6.58E-06
17269 19 A/T 33 None 0.1375 None gnomAD-4.0.0 1.2404E-06
17270 20 S/I 34 rs200650668 0.3907 None gnomAD-2.1.1 4.0884E-04
17270 20 S/I 34 rs200650668 0.3907 None gnomAD-3.1.2 4.54198E-04
17270 20 S/I 34 rs200650668 0.3907 None gnomAD-4.0.0 8.09272E-04
17270 20 S/R 34 rs2055789793 0.3907 None gnomAD-4.0.0 1.3694E-06
17271 21 I/T 35 rs764070559 0.2002 None gnomAD-2.1.1 8.08E-06
17271 21 I/T 35 rs764070559 0.2002 None gnomAD-3.1.2 6.58E-06
17271 21 I/T 35 rs764070559 0.2002 None gnomAD-4.0.0 8.06244E-06
17271 21 I/V 35 rs754159960 0.2002 None gnomAD-2.1.1 4.04E-06
17271 21 I/V 35 rs754159960 0.2002 None gnomAD-4.0.0 1.59387E-06
17272 22 S/A 38 rs1308609622 0.8705 None gnomAD-2.1.1 4.04E-06
17272 22 S/A 38 rs1308609622 0.8705 None gnomAD-4.0.0 6.16231E-06
17273 23 G/R 40 None 0.4066 None gnomAD-4.0.0 1.20032E-06
17274 24 S/L 41 None 0.7229 None gnomAD-4.0.0 1.59398E-06
17274 24 S/T 41 None 0.7229 None gnomAD-4.0.0 1.20032E-06
17275 25 P/H 42 None 0.4188 None gnomAD-4.0.0 1.36941E-06
17275 25 P/S 42 rs752852690 0.4188 None gnomAD-2.1.1 1.43E-05
17275 25 P/S 42 rs752852690 0.4188 None gnomAD-3.1.2 1.32E-05
17275 25 P/S 42 rs752852690 0.4188 None gnomAD-4.0.0 1.1784E-05
17275 25 P/T 42 None 0.4188 None gnomAD-4.0.0 6.84704E-07
17276 26 Y/D 43 None 0.3315 None gnomAD-4.0.0 6.84695E-07
17276 26 Y/H 43 None 0.3315 None gnomAD-4.0.0 6.84695E-07
17277 27 P/R 44 rs768086093 0.1412 None gnomAD-2.1.1 8.08E-06
17277 27 P/R 44 rs768086093 0.1412 None gnomAD-4.0.0 4.78182E-06
17278 28 T/I 45 None 0.6802 None gnomAD-4.0.0 3.60097E-06
17278 28 T/S 45 None 0.6802 None gnomAD-4.0.0 1.20032E-06
17279 29 I/T 46 None 0.3113 None gnomAD-4.0.0 3.18798E-06
17280 30 T/K 47 rs1225457381 0.3967 None gnomAD-2.1.1 3.19E-05
17280 30 T/K 47 rs1225457381 0.3967 None gnomAD-3.1.2 6.58E-06
17280 30 T/K 47 rs1225457381 0.3967 None gnomAD-4.0.0 6.58432E-06
17281 31 W/G 48 None 0.1603 None gnomAD-4.0.0 6.84709E-07
17281 31 W/R 48 rs368846015 0.1603 None gnomAD-2.1.1 8.07E-06
17281 31 W/R 48 rs368846015 0.1603 None gnomAD-3.1.2 3.29E-05
17281 31 W/R 48 rs368846015 0.1603 None gnomAD-4.0.0 6.82276E-06
17282 32 I/T 49 rs1490005480 0.1622 None gnomAD-2.1.1 3.19E-05
17282 32 I/T 49 rs1490005480 0.1622 None gnomAD-3.1.2 1.32E-05
17282 32 I/T 49 rs1490005480 0.1622 None gnomAD-4.0.0 1.31733E-05
17284 34 D/E 51 None 0.3833 None gnomAD-4.0.0 1.36947E-06
17284 34 D/N 51 None 0.3833 None gnomAD-4.0.0 6.84735E-07
17284 34 D/Y 51 rs1309961194 0.3833 None gnomAD-2.1.1 4.04E-06
17284 34 D/Y 51 rs1309961194 0.3833 None gnomAD-4.0.0 7.53208E-06
17285 35 E/A 52 None 0.7590 None gnomAD-4.0.0 1.36947E-06
17285 35 E/G 52 None 0.7590 None gnomAD-4.0.0 6.84734E-07
17285 35 E/K 52 rs1355045941 0.7590 None gnomAD-2.1.1 4.04E-06
17285 35 E/K 52 rs1355045941 0.7590 None gnomAD-3.1.2 6.58E-06
17285 35 E/K 52 rs1355045941 0.7590 None gnomAD-4.0.0 2.56677E-06
17287 37 V/L 56 rs1333508634 0.5336 None gnomAD-2.1.1 4.04E-06
17288 38 I/T 58 rs1366192608 0.1676 None gnomAD-2.1.1 4.03E-06
17288 38 I/T 58 rs1366192608 0.1676 None gnomAD-4.0.0 1.02714E-05
17289 39 V/A 69 None 0.6225 None gnomAD-4.0.0 1.20032E-06
17290 40 P/L 70 None 0.3303 None gnomAD-4.0.0 1.36956E-06
17290 40 P/S 70 rs1481460924 0.3303 None gnomAD-4.0.0 3.42391E-06
17291 41 E/Q 73 None 0.5151 None gnomAD-4.0.0 1.59434E-06
17295 45 K/N 77 rs72632861 1.1185 None gnomAD-2.1.1 4.04E-06
17295 45 K/N 77 rs72632861 1.1185 None gnomAD-4.0.0 8.21766E-06
17295 45 K/R 77 None 1.1185 None gnomAD-4.0.0 1.36958E-06
17296 46 R/C 78 rs1028433729 0.8837 None gnomAD-2.1.1 4.04E-06
17296 46 R/C 78 rs1028433729 0.8837 None gnomAD-4.0.0 3.35562E-05
17296 46 R/H 78 rs200456782 0.8837 None gnomAD-2.1.1 2.14938E-04
17296 46 R/H 78 rs200456782 0.8837 None gnomAD-3.1.2 1.11951E-04
17296 46 R/H 78 rs200456782 0.8837 None gnomAD-4.0.0 1.80511E-04
17297 47 A/E 79 None 0.7484 None gnomAD-4.0.0 6.84822E-07
17297 47 A/G 79 rs776392928 0.7484 None gnomAD-4.0.0 6.84822E-07
17297 47 A/T 79 None 0.7484 None gnomAD-4.0.0 1.36965E-06
17297 47 A/V 79 rs776392928 0.7484 None gnomAD-2.1.1 8.07E-06
17297 47 A/V 79 rs776392928 0.7484 None gnomAD-3.1.2 6.58E-06
17297 47 A/V 79 rs776392928 0.7484 None gnomAD-4.0.0 2.10903E-05
17298 48 A/T 80 None 0.7859 None gnomAD-4.0.0 1.20032E-06
17299 49 P/L 81 rs369648778 0.7582 None gnomAD-2.1.1 7.52E-05
17299 49 P/L 81 rs369648778 0.7582 None gnomAD-3.1.2 7.91E-05
17299 49 P/L 81 rs369648778 0.7582 None gnomAD-4.0.0 7.87856E-05
17299 49 P/T 81 None 0.7582 None gnomAD-4.0.0 1.20032E-06
17300 50 L/F 82 rs760140429 1.2176 None gnomAD-2.1.1 8.07E-06
17300 50 L/F 82 rs760140429 1.2176 None gnomAD-4.0.0 3.18918E-06
17301 51 V/F 83 rs775005250 0.8893 None gnomAD-2.1.1 3.19E-05
17301 51 V/G 83 rs377029308 0.8893 None gnomAD-3.1.2 6.59E-06
17301 51 V/G 83 rs377029308 0.8893 None gnomAD-4.0.0 6.58605E-06
17301 51 V/I 83 rs775005250 0.8893 None gnomAD-2.1.1 4.03E-06
17302 52 R/K 84 rs1347004429 1.0278 None gnomAD-3.1.2 6.58E-06
17302 52 R/K 84 rs1347004429 1.0278 None gnomAD-4.0.0 4.0608E-06
17305 55 K/R 87 None 1.2014 None gnomAD-4.0.0 1.20032E-06
17306 56 G/D 88 rs1559758942 0.7665 None gnomAD-2.1.1 4.03E-06
17306 56 G/D 88 rs1559758942 0.7665 None gnomAD-4.0.0 3.18908E-06
17307 57 E/A 89 rs745810412 1.0332 None gnomAD-2.1.1 4.03E-06
17307 57 E/A 89 rs745810412 1.0332 None gnomAD-4.0.0 1.59449E-06
17307 57 E/K 89 None 1.0332 None gnomAD-4.0.0 2.40064E-06
17311 61 E/K 93 None 1.0657 None gnomAD-4.0.0 6.84824E-07
17311 61 E/Q 93 None 1.0657 None gnomAD-4.0.0 6.84824E-07
17312 62 E/A 94 None 1.0103 None gnomAD-4.0.0 1.20037E-06
17312 62 E/K 94 rs749451611 1.0103 None gnomAD-2.1.1 4.03E-06
17312 62 E/K 94 rs749451611 1.0103 None gnomAD-4.0.0 3.42426E-06
17312 62 E/Q 94 rs749451611 1.0103 None gnomAD-2.1.1 4.03E-06
17312 62 E/Q 94 rs749451611 1.0103 None gnomAD-4.0.0 1.3697E-06
17313 63 P/L 95 rs372927085 0.7780 None gnomAD-4.0.0 3.42407E-06
17313 63 P/Q 95 None 0.7780 None gnomAD-2.1.1 8.06E-06
17313 63 P/Q 95 None 0.7780 None gnomAD-4.0.0 1.36963E-06
17313 63 P/R 95 rs372927085 0.7780 None gnomAD-2.1.1 1.07E-05
17313 63 P/R 95 rs372927085 0.7780 None gnomAD-3.1.2 6.58E-06
17313 63 P/R 95 rs372927085 0.7780 None gnomAD-4.0.0 4.34205E-06
17314 64 F/I 96 None 0.7993 None gnomAD-4.0.0 6.84811E-07
17314 64 F/L 96 None 0.7993 None gnomAD-4.0.0 6.84811E-07
17314 64 F/S 96 None 0.7993 None gnomAD-4.0.0 1.59451E-06
17315 65 V/A 97 rs1338519299 0.4957 None gnomAD-3.1.2 1.32E-05
17315 65 V/A 97 rs1338519299 0.4957 None gnomAD-4.0.0 3.04559E-06
17315 65 V/F 97 rs778099881 0.4957 None gnomAD-2.1.1 4.03E-06
17315 65 V/F 97 rs778099881 0.4957 None gnomAD-4.0.0 1.36963E-06
17315 65 V/I 97 rs778099881 0.4957 None gnomAD-2.1.1 1.43E-05
17315 65 V/I 97 rs778099881 0.4957 None gnomAD-3.1.2 2.63E-05
17315 65 V/I 97 rs778099881 0.4957 None gnomAD-4.0.0 8.68408E-06
17316 66 L/R 98 rs368529230 0.4512 None gnomAD-2.1.1 4.03E-06
17316 66 L/R 98 rs368529230 0.4512 None gnomAD-4.0.0 1.59456E-06
17317 67 P/S 99 None 0.3659 None gnomAD-4.0.0 1.59462E-06
17317 67 P/T 99 None 0.3659 None gnomAD-4.0.0 1.59462E-06
17319 69 T/A 101 None 0.2641 None gnomAD-4.0.0 3.18938E-06
17320 70 Q/K 102 None 0.2992 None gnomAD-4.0.0 6.84892E-07
17321 71 R/C 115 rs752764827 0.1081 None gnomAD-2.1.1 2.15E-05
17321 71 R/C 115 rs752764827 0.1081 None gnomAD-3.1.2 1.98E-05
17321 71 R/C 115 rs752764827 0.1081 None gnomAD-4.0.0 3.59848E-05
17321 71 R/H 115 rs530304166 0.1081 None gnomAD-2.1.1 1.21E-05
17321 71 R/H 115 rs530304166 0.1081 None gnomAD-3.1.2 1.32E-05
17321 71 R/H 115 rs530304166 0.1081 None 1000 genomes 1.99681E-04
17321 71 R/H 115 rs530304166 0.1081 None gnomAD-4.0.0 2.10923E-05
17321 71 R/S 115 rs752764827 0.1081 None gnomAD-2.1.1 4.04E-06
17321 71 R/S 115 rs752764827 0.1081 None gnomAD-4.0.0 6.84965E-07
17323 73 S/N 122 None 0.3714 None gnomAD-4.0.0 2.40064E-06
17324 74 I/T 123 rs755536501 0.2701 None gnomAD-2.1.1 4.05E-06
17324 74 I/T 123 rs755536501 0.2701 None gnomAD-3.1.2 6.58E-06
17324 74 I/T 123 rs755536501 0.2701 None gnomAD-4.0.0 6.20585E-06
17325 75 D/N 125 rs375717318 0.4881 None gnomAD-2.1.1 4.06E-06
17325 75 D/N 125 rs375717318 0.4881 None gnomAD-4.0.0 2.05752E-06
17326 76 N/K 127 rs1179567067 0.5246 None gnomAD-4.0.0 6.86553E-07
17327 77 S/C 129 None 0.7205 None gnomAD-4.0.0 1.20032E-06
17327 77 S/I 129 rs1447002596 0.7205 None gnomAD-2.1.1 4.09E-06
17327 77 S/I 129 rs1447002596 0.7205 None gnomAD-4.0.0 1.37366E-06
17327 77 S/N 129 rs1447002596 0.7205 None gnomAD-3.1.2 6.58E-06
17327 77 S/N 129 rs1447002596 0.7205 None gnomAD-4.0.0 1.24391E-06
17327 77 S/R 129 rs1244227970 0.7205 None gnomAD-4.0.0 1.60947E-06
17328 78 K/Q 130 rs371827403 0.5225 None gnomAD-2.1.1 4.06E-06
17328 78 K/Q 130 rs371827403 0.5225 None gnomAD-3.1.2 6.58E-06
17328 78 K/Q 130 rs371827403 0.5225 None gnomAD-4.0.0 2.57267E-06
17328 78 K/R 130 rs1268313785 0.5225 None gnomAD-3.1.2 6.58E-06
17328 78 K/R 130 rs1268313785 0.5225 None gnomAD-4.0.0 2.03033E-06
17329 79 K/N 131 rs1463878310 0.5298 None gnomAD-2.1.1 4.07E-06
17329 79 K/N 131 rs1463878310 0.5298 None gnomAD-4.0.0 6.85839E-07
17330 80 G/V 134 None 0.2129 None gnomAD-4.0.0 1.37218E-06
17331 81 E/G 135 None 0.4111 None gnomAD-4.0.0 1.20032E-06
17331 81 E/Q 135 rs547986881 0.4111 None gnomAD-2.1.1 6.04345E-04
17331 81 E/Q 135 rs547986881 0.4111 None gnomAD-3.1.2 1.44786E-04
17331 81 E/Q 135 rs547986881 0.4111 None 1000 genomes 9.98403E-04
17331 81 E/Q 135 rs547986881 0.4111 None gnomAD-4.0.0 2.90303E-04
17332 82 S/T 136 None 0.1423 None gnomAD-4.0.0 1.20032E-06
17333 83 Q/H 137 None 0.3938 None gnomAD-4.0.0 1.60681E-06
17333 83 Q/P 137 None 0.3938 None gnomAD-4.0.0 5.49847E-06
17335 85 R/C 139 rs763755830 0.1723 None gnomAD-2.1.1 1.46E-05
17335 85 R/C 139 rs763755830 0.1723 None gnomAD-3.1.2 1.97E-05
17335 85 R/C 139 rs763755830 0.1723 None gnomAD-4.0.0 1.30764E-05
17335 85 R/G 139 None 0.1723 None gnomAD-4.0.0 6.87758E-07
17335 85 R/H 139 rs367603302 0.1723 None gnomAD-2.1.1 1.31519E-04
17335 85 R/H 139 rs367603302 0.1723 None gnomAD-3.1.2 1.71143E-04
17335 85 R/H 139 rs367603302 0.1723 None gnomAD-4.0.0 8.65936E-05
17335 85 R/L 139 rs367603302 0.1723 None gnomAD-3.1.2 6.58E-06
17335 85 R/L 139 rs367603302 0.1723 None gnomAD-4.0.0 6.58241E-06
17336 86 V/A 140 rs1315720730 0.1047 None gnomAD-2.1.1 4.16E-06
17336 86 V/A 140 rs1315720730 0.1047 None gnomAD-4.0.0 1.6174E-06
17336 86 V/I 140 rs567781604 0.1047 None gnomAD-2.1.1 4.78E-05
17336 86 V/I 140 rs567781604 0.1047 None gnomAD-3.1.2 3.95E-05
17336 86 V/I 140 rs567781604 0.1047 None gnomAD-4.0.0 5.0526E-05
17337 87 R/L 141 rs775700218 0.6517 None gnomAD-2.1.1 4.19E-06
17337 87 R/L 141 rs775700218 0.6517 None gnomAD-4.0.0 2.07002E-06
17337 87 R/Q 141 rs775700218 0.6517 None gnomAD-2.1.1 1.85E-05
17337 87 R/Q 141 rs775700218 0.6517 None gnomAD-3.1.2 2.63E-05
17337 87 R/Q 141 rs775700218 0.6517 None gnomAD-4.0.0 2.62284E-05
17338 88 D/H 143 None 0.6731 None gnomAD-4.0.0 1.62489E-06
17339 89 S/T 144 rs765426395 0.0930 None gnomAD-4.0.0 2.40064E-06
17339 89 S/Y 144 None 0.0930 None gnomAD-4.0.0 1.62947E-06
17340 90 L/F 145 rs770603604 0.2579 None gnomAD-2.1.1 1.01923E-04
17340 90 L/F 145 rs770603604 0.2579 None gnomAD-3.1.2 1.97E-05
17340 90 L/F 145 rs770603604 0.2579 None gnomAD-4.0.0 3.26908E-05
17341 91 R/L 146 rs370390570 0.2585 None gnomAD-2.1.1 8.63E-06
17341 91 R/L 146 rs370390570 0.2585 None gnomAD-4.0.0 2.77426E-06
17341 91 R/Q 146 rs370390570 0.2585 None gnomAD-2.1.1 1.25401E-04
17341 91 R/Q 146 rs370390570 0.2585 None gnomAD-3.1.2 3.75163E-04
17341 91 R/Q 146 rs370390570 0.2585 None 1000 genomes 3.99361E-04
17341 91 R/Q 146 rs370390570 0.2585 None gnomAD-4.0.0 8.09345E-05
17342 92 P/L 148 None 0.5778 None gnomAD-4.0.0 1.20032E-06
17343 93 D/V 149 rs201796622 0.1412 None gnomAD-2.1.1 4.44E-06
17343 93 D/V 149 rs201796622 0.1412 None gnomAD-3.1.2 6.58E-06
17343 93 D/V 149 rs201796622 0.1412 None gnomAD-4.0.0 2.52137E-06
17343 93 D/Y 149 rs2055729807 0.1412 None gnomAD-4.0.0 1.662E-06
17344 94 H/Q 151 None 0.4448 None gnomAD-4.0.0 6.98497E-07
17344 94 H/R 151 rs748445315 0.4448 None gnomAD-2.1.1 1.79E-05
17344 94 H/R 151 rs748445315 0.4448 None gnomAD-3.1.2 1.97E-05
17344 94 H/R 151 rs748445315 0.4448 None gnomAD-4.0.0 2.20971E-05
17344 94 H/Y 151 rs770072826 0.4448 None gnomAD-2.1.1 1.34E-05
17344 94 H/Y 151 rs770072826 0.4448 None gnomAD-4.0.0 6.65885E-06
17345 95 G/V 152 None 0.1513 None gnomAD-4.0.0 6.99481E-07
17346 96 L/M 153 None 0.4216 None gnomAD-4.0.0 1.67988E-06
17346 96 L/P 153 rs755155531 0.4216 None gnomAD-2.1.1 8.05E-06
17346 96 L/P 153 rs755155531 0.4216 None gnomAD-3.1.2 1.97E-05
17346 96 L/P 153 rs755155531 0.4216 None gnomAD-4.0.0 6.72363E-06
17346 96 L/V 153 None 0.4216 None gnomAD-4.0.0 1.67988E-06
17347 97 Y/H 154 rs1488285179 0.1306 None gnomAD-2.1.1 4.63E-06
17347 97 Y/H 154 rs1488285179 0.1306 None gnomAD-4.0.0 1.69485E-06
17348 98 M/I 155 rs758852311 0.2088 None gnomAD-2.1.1 4.92E-06
17348 98 M/I 155 rs758852311 0.2088 None gnomAD-3.1.2 1.32E-05
17348 98 M/I 155 rs758852311 0.2088 None gnomAD-4.0.0 7.05167E-06
17348 98 M/T 155 rs992739626 0.2088 None gnomAD-2.1.1 4.88E-06
17348 98 M/T 155 rs992739626 0.2088 None gnomAD-4.0.0 4.25587E-06
17348 98 M/V 155 rs780570190 0.2088 None gnomAD-2.1.1 1.89E-05
17348 98 M/V 155 rs780570190 0.2088 None gnomAD-3.1.2 6.58E-06
17348 98 M/V 155 rs780570190 0.2088 None gnomAD-4.0.0 1.78335E-05
17349 99 I/M 156 rs1273982598 0.0822 None gnomAD-2.1.1 5.07E-06
17349 99 I/M 156 rs1273982598 0.0822 None gnomAD-4.0.0 1.76556E-06
17350 100 K/R 157 rs545725664 0.2640 None gnomAD-2.1.1 5.25E-05
17350 100 K/R 157 rs545725664 0.2640 None gnomAD-4.0.0 1.2239E-05
17350 100 K/T 157 None 0.2640 None gnomAD-4.0.0 7.19939E-07
17351 101 V/A 158 rs565423253 0.1348 None gnomAD-2.1.1 6.79E-05
17351 101 V/A 158 rs565423253 0.1348 None gnomAD-3.1.2 3.29E-05
17351 101 V/A 158 rs565423253 0.1348 None 1000 genomes 1.99681E-04
17351 101 V/A 158 rs565423253 0.1348 None gnomAD-4.0.0 1.29841E-05
17351 101 V/G 158 rs565423253 0.1348 None gnomAD-4.0.0 5.0422E-06
17351 101 V/I 158 rs765525785 0.1348 None gnomAD-2.1.1 5.27E-06
17351 101 V/I 158 rs765525785 0.1348 None gnomAD-4.0.0 1.80083E-06
17352 102 E/A 159 rs1187111699 0.3586 None gnomAD-4.0.0 4.80129E-06
17352 102 E/K 159 None 0.3586 None gnomAD-4.0.0 1.20032E-06
17354 104 D/E 162 rs886055269 0.8177 None gnomAD-4.0.0 3.64904E-06
17354 104 D/V 162 rs397517606 0.8177 None gnomAD-2.1.1 5.44E-06
17354 104 D/Y 162 None 0.8177 None gnomAD-4.0.0 1.82058E-06
17355 105 H/D 163 rs2055715611 0.8620 None gnomAD-4.0.0 7.24267E-07
17355 105 H/N 163 None 0.8620 None gnomAD-4.0.0 1.44854E-06
17356 106 G/D 164 rs759091835 0.3346 None gnomAD-2.1.1 1.11E-05
17356 106 G/D 164 rs759091835 0.3346 None gnomAD-4.0.0 7.97961E-06
17356 106 G/S 164 rs1300982560 0.3346 None gnomAD-4.0.0 5.07799E-06
17357 107 I/M 165 None 0.4721 None gnomAD-4.0.0 2.91106E-06
17357 107 I/V 165 rs773768518 0.4721 None gnomAD-2.1.1 5.6E-06
17357 107 I/V 165 rs773768518 0.4721 None gnomAD-3.1.2 6.58E-06
17357 107 I/V 165 rs773768518 0.4721 None gnomAD-4.0.0 3.92652E-06
17358 108 A/V 166 None 0.3135 None gnomAD-4.0.0 7.2825E-07
17361 111 P/S 171 None 0.4630 None gnomAD-4.0.0 1.86637E-06
17362 112 C/G 172 None 0.0737 None gnomAD-4.0.0 7.30789E-07
17362 112 C/Y 172 rs1553690569 0.0737 None gnomAD-4.0.0 2.1939E-06
17363 113 T/I 173 None 0.4585 None gnomAD-4.0.0 7.3252E-07
17366 116 V/A 177 None 0.1048 None gnomAD-4.0.0 1.20032E-06
17366 116 V/M 177 None 0.1048 None gnomAD-4.0.0 1.47234E-06