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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
29137 1 R/G 1 None 0.5308 None gnomAD-4.0.0 1.59303E-06
29137 1 R/K 1 rs1210340832 0.5308 None gnomAD-4.0.0 1.36909E-06
29137 1 R/M 1 None 0.5308 None gnomAD-4.0.0 6.84543E-06
29138 2 P/T 2 rs72648227 0.1115 None gnomAD-2.1.1 1.18768E-03
29138 2 P/T 2 rs72648227 0.1115 None gnomAD-3.1.2 8.80559E-04
29138 2 P/T 2 rs72648227 0.1115 None 1000 genomes 2.19649E-03
29138 2 P/T 2 rs72648227 0.1115 None gnomAD-4.0.0 8.70411E-04
29140 4 P/L 4 rs1483374179 0.3818 None gnomAD-2.1.1 4.03E-06
29140 4 P/L 4 rs1483374179 0.3818 None gnomAD-4.0.0 1.59303E-06
29140 4 P/S 4 None 0.3818 None gnomAD-4.0.0 1.36909E-06
29141 5 P/A 5 None 0.1181 None gnomAD-4.0.0 1.59295E-06
29141 5 P/S 5 None 0.1181 None gnomAD-4.0.0 3.18589E-06
29142 6 T/A 6 rs1196119784 0.2603 None gnomAD-2.1.1 3.18E-05
29142 6 T/A 6 rs1196119784 0.2603 None gnomAD-3.1.2 1.31E-05
29142 6 T/A 6 rs1196119784 0.2603 None gnomAD-4.0.0 4.05955E-06
29143 7 G/A 7 None 0.4879 None gnomAD-4.0.0 6.84493E-07
29143 7 G/S 7 None 0.4879 None gnomAD-4.0.0 1.59272E-06
29143 7 G/V 7 rs368010212 0.4879 None gnomAD-2.1.1 1.61E-05
29143 7 G/V 7 rs368010212 0.4879 None gnomAD-3.1.2 3.29E-05
29143 7 G/V 7 rs368010212 0.4879 None gnomAD-4.0.0 1.17777E-05
29144 8 P/A 8 rs1208554527 0.8470 None gnomAD-2.1.1 4.03E-06
29144 8 P/A 8 rs1208554527 0.8470 None gnomAD-4.0.0 2.05346E-06
29144 8 P/R 8 rs1417177709 0.8470 None gnomAD-3.1.2 6.57E-06
29144 8 P/R 8 rs1417177709 0.8470 None gnomAD-4.0.0 6.81886E-06
29145 9 V/A 9 None 0.2199 None gnomAD-4.0.0 3.42209E-06
29145 9 V/I 9 None 0.2199 None gnomAD-4.0.0 2.40064E-06
29146 10 V/F 11 rs794729520 0.4937 None gnomAD-3.1.2 1.31E-05
29146 10 V/F 11 rs794729520 0.4937 None gnomAD-4.0.0 1.31428E-05
29147 11 I/M 12 None 0.2920 None gnomAD-4.0.0 6.84382E-07
29147 11 I/T 12 rs1395690668 0.2920 None gnomAD-3.1.2 6.57E-06
29147 11 I/T 12 rs1395690668 0.2920 None gnomAD-4.0.0 4.33876E-06
29148 12 S/G 13 None 0.2753 None gnomAD-4.0.0 1.20032E-06
29149 13 D/N 14 rs758707099 0.5769 None gnomAD-2.1.1 4.02E-06
29149 13 D/N 14 rs758707099 0.5769 None gnomAD-4.0.0 3.42187E-06
29149 13 D/Y 14 rs758707099 0.5769 None gnomAD-2.1.1 7.15E-06
29149 13 D/Y 14 rs758707099 0.5769 None gnomAD-3.1.2 6.57E-06
29149 13 D/Y 14 rs758707099 0.5769 None gnomAD-4.0.0 3.09916E-06
29150 14 I/K 15 None 0.3834 None gnomAD-4.0.0 6.84336E-07
29150 14 I/L 15 rs189030321 0.3834 None gnomAD-2.1.1 3.57E-05
29150 14 I/L 15 rs189030321 0.3834 None gnomAD-3.1.2 2.49652E-04
29150 14 I/L 15 rs189030321 0.3834 None 1000 genomes 3.99361E-04
29150 14 I/L 15 rs189030321 0.3834 None gnomAD-4.0.0 4.52409E-05
29150 14 I/T 15 rs373106927 0.3834 None gnomAD-2.1.1 8.57E-05
29150 14 I/T 15 rs373106927 0.3834 None gnomAD-3.1.2 4.6E-05
29150 14 I/T 15 rs373106927 0.3834 None gnomAD-4.0.0 3.96659E-05
29150 14 I/V 15 rs189030321 0.3834 None gnomAD-2.1.1 4.02E-06
29150 14 I/V 15 rs189030321 0.3834 None gnomAD-4.0.0 6.84344E-07
29151 15 T/I 16 None 0.3263 None gnomAD-4.0.0 1.59194E-06
29152 16 E/K 17 rs752325107 0.5554 None gnomAD-2.1.1 1.21E-05
29152 16 E/K 17 rs752325107 0.5554 None gnomAD-4.0.0 1.59191E-06
29153 17 E/G 18 None 0.6051 None gnomAD-4.0.0 1.59168E-06
29153 17 E/K 18 rs1409902738 0.6051 None gnomAD-2.1.1 4.02E-06
29153 17 E/K 18 rs1409902738 0.6051 None gnomAD-4.0.0 1.36858E-06
29154 18 S/R 19 rs766960470 0.1588 None gnomAD-2.1.1 4.02E-06
29154 18 S/R 19 rs766960470 0.1588 None gnomAD-4.0.0 1.59157E-06
29157 21 L/F 22 rs1311609495 0.1143 None gnomAD-2.1.1 4.02E-06
29157 21 L/F 22 rs1311609495 0.1143 None gnomAD-4.0.0 1.59147E-06
29158 22 K/Q 23 rs759043788 0.5045 None gnomAD-2.1.1 4.02E-06
29158 22 K/Q 23 rs759043788 0.5045 None gnomAD-4.0.0 1.59127E-06
29160 24 E/K 25 None 0.5467 None gnomAD-4.0.0 6.84214E-07
29160 24 E/Q 25 rs1559260637 0.5467 None gnomAD-2.1.1 4.02E-06
29160 24 E/Q 25 rs1559260637 0.5467 None gnomAD-4.0.0 4.10529E-06
29161 25 P/A 26 None 0.4424 None gnomAD-4.0.0 1.20032E-06
29162 26 P/R 27 rs1396243813 0.1775 None gnomAD-3.1.2 6.57E-06
29162 26 P/R 27 rs1396243813 0.1775 None gnomAD-4.0.0 2.56203E-06
29162 26 P/T 27 None 0.1775 None gnomAD-4.0.0 2.7368E-06
29164 28 Y/C 29 rs1318040081 0.3326 None gnomAD-2.1.1 4.02E-06
29164 28 Y/C 29 rs1318040081 0.3326 None gnomAD-4.0.0 1.59111E-06
29166 30 G/S 31 rs200263009 0.0666 None gnomAD-2.1.1 3.21E-05
29166 30 G/S 31 rs200263009 0.0666 None gnomAD-3.1.2 1.31E-05
29166 30 G/S 31 rs200263009 0.0666 None gnomAD-4.0.0 1.36327E-05
29167 31 G/R 32 None 0.2549 None gnomAD-4.0.0 1.36835E-06
29168 32 S/G 33 rs762970451 0.1959 None gnomAD-2.1.1 8.03E-06
29168 32 S/G 33 rs762970451 0.1959 None gnomAD-4.0.0 1.11376E-05
29168 32 S/N 33 rs1233597826 0.1959 None gnomAD-3.1.2 6.57E-06
29168 32 S/N 33 rs1233597826 0.1959 None gnomAD-4.0.0 6.56918E-06
29171 35 T/A 36 rs1474922930 0.4271 None gnomAD-2.1.1 4.02E-06
29171 35 T/A 36 rs1474922930 0.4271 None gnomAD-4.0.0 1.36834E-06
29171 35 T/S 36 None 0.4271 None gnomAD-4.0.0 1.20032E-06
29173 37 Y/C 38 rs773203499 0.1214 None gnomAD-2.1.1 4.02E-06
29173 37 Y/C 38 rs773203499 0.1214 None gnomAD-4.0.0 1.59104E-06
29173 37 Y/D 38 None 0.1214 None gnomAD-4.0.0 6.84169E-07
29173 37 Y/H 38 None 0.1214 None gnomAD-4.0.0 6.84169E-07
29174 38 I/V 39 rs1309415866 0.2100 None gnomAD-4.0.0 1.59103E-06
29175 39 L/I 40 None 0.1079 None gnomAD-4.0.0 1.36834E-06
29177 41 K/E 42 rs765090108 0.2730 None gnomAD-2.1.1 4.02E-06
29177 41 K/E 42 rs765090108 0.2730 None gnomAD-4.0.0 6.84163E-07
29177 41 K/N 42 rs1228451562 0.2730 None gnomAD-3.1.2 6.57E-06
29177 41 K/N 42 rs1228451562 0.2730 None gnomAD-4.0.0 6.57047E-06
29177 41 K/Q 42 rs765090108 0.2730 None gnomAD-4.0.0 1.36833E-06
29177 41 K/R 42 rs762172006 0.2730 None gnomAD-2.1.1 4.02E-06
29177 41 K/R 42 rs762172006 0.2730 None gnomAD-4.0.0 1.36833E-06
29178 42 R/G 43 rs1214776587 0.2427 None gnomAD-2.1.1 4.02E-06
29178 42 R/G 43 rs1214776587 0.2427 None gnomAD-4.0.0 1.59103E-06
29179 43 E/A 44 None 0.3691 None gnomAD-4.0.0 1.20032E-06
29179 43 E/D 44 None 0.3691 None gnomAD-4.0.0 1.20032E-06
29180 44 T/I 50 rs375586936 0.3350 None gnomAD-3.1.2 6.57E-06
29180 44 T/I 50 rs375586936 0.3350 None gnomAD-4.0.0 1.8588E-06
29181 45 S/G 54 None 0.6099 None gnomAD-4.0.0 1.36832E-06
29181 45 S/N 54 rs768624965 0.6099 None gnomAD-2.1.1 4.02E-06
29181 45 S/N 54 rs768624965 0.6099 None gnomAD-4.0.0 4.10499E-06
29181 45 S/R 54 rs776861234 0.6099 None gnomAD-2.1.1 4.02E-06
29181 45 S/R 54 rs776861234 0.6099 None gnomAD-3.1.2 6.57E-06
29181 45 S/R 54 rs776861234 0.6099 None gnomAD-4.0.0 1.23926E-06
29182 46 T/I 60 rs1215379633 0.3815 None gnomAD-3.1.2 6.57E-06
29182 46 T/I 60 rs1215379633 0.3815 None gnomAD-4.0.0 6.56996E-06
29183 47 A/E 63 rs747056438 0.7146 None gnomAD-2.1.1 8.03E-06
29183 47 A/E 63 rs747056438 0.7146 None gnomAD-3.1.2 6.57E-06
29183 47 A/E 63 rs747056438 0.7146 None gnomAD-4.0.0 9.29465E-06
29183 47 A/T 63 None 0.7146 None gnomAD-4.0.0 1.20034E-06
29183 47 A/V 63 None 0.7146 None gnomAD-4.0.0 6.84166E-07
29184 48 V/A 64 None 0.6927 None gnomAD-4.0.0 6.84167E-07
29184 48 V/G 64 None 0.6927 None gnomAD-4.0.0 1.36833E-06
29184 48 V/L 64 None 0.6927 None gnomAD-4.0.0 6.84161E-07
29184 48 V/M 64 rs910283551 0.6927 None gnomAD-2.1.1 1.2E-05
29184 48 V/M 64 rs910283551 0.6927 None gnomAD-3.1.2 1.97E-05
29184 48 V/M 64 rs910283551 0.6927 None gnomAD-4.0.0 1.17731E-05
29185 49 W/R 65 rs775423429 0.2674 None gnomAD-4.0.0 1.59103E-06
29186 50 T/I 66 rs755409023 0.4514 None gnomAD-4.0.0 6.00161E-06
29187 51 E/D 67 None 0.4858 None gnomAD-4.0.0 1.20032E-06
29187 51 E/K 67 rs1060500586 0.4858 None gnomAD-2.1.1 4.02E-06
29187 51 E/K 67 rs1060500586 0.4858 None gnomAD-4.0.0 6.15749E-06
29188 52 V/E 68 rs772706810 0.2761 None gnomAD-2.1.1 8.03E-06
29188 52 V/E 68 rs772706810 0.2761 None gnomAD-4.0.0 4.10498E-06
29188 52 V/G 68 None 0.2761 None gnomAD-4.0.0 1.36833E-06
29188 52 V/L 68 None 0.2761 None gnomAD-4.0.0 6.84162E-07
29188 52 V/M 68 None 0.2761 None gnomAD-4.0.0 2.05249E-06
29189 53 S/F 69 rs1319240179 0.2123 None gnomAD-4.0.0 7.95499E-06
29190 54 A/P 70 rs779302987 0.2821 None gnomAD-2.1.1 4.02E-06
29190 54 A/P 70 rs779302987 0.2821 None gnomAD-4.0.0 1.36833E-06
29190 54 A/T 70 None 0.2821 None gnomAD-4.0.0 1.36833E-06
29191 55 T/A 75 rs963739938 0.7486 None gnomAD-4.0.0 6.84162E-06
29191 55 T/I 75 rs757571814 0.7486 None gnomAD-2.1.1 4.02E-06
29191 55 T/I 75 rs757571814 0.7486 None gnomAD-4.0.0 1.59102E-06
29192 56 V/F 77 None 0.1424 None gnomAD-4.0.0 2.40064E-06
29193 57 A/G 83 rs1185795292 0.5924 None gnomAD-2.1.1 4.02E-06
29193 57 A/G 83 rs1185795292 0.5924 None gnomAD-4.0.0 1.59107E-06
29193 57 A/T 83 rs780827964 0.5924 None gnomAD-2.1.1 4.02E-06
29193 57 A/T 83 rs780827964 0.5924 None gnomAD-3.1.2 6.57E-06
29193 57 A/T 83 rs780827964 0.5924 None gnomAD-4.0.0 5.07456E-06
29194 58 R/G 88 None 0.8069 None gnomAD-4.0.0 1.20032E-06
29194 58 R/S 88 rs754456800 0.8069 None gnomAD-2.1.1 4.02E-06
29194 58 R/S 88 rs754456800 0.8069 None gnomAD-4.0.0 4.80129E-06
29194 58 R/T 88 None 0.8069 None gnomAD-4.0.0 3.18207E-06
29195 59 T/N 89 rs751134822 0.2022 None gnomAD-2.1.1 4.02E-06
29195 59 T/N 89 rs751134822 0.2022 None gnomAD-4.0.0 2.0525E-06
29196 60 M/I 90 None 0.4155 None gnomAD-4.0.0 1.20032E-06
29196 60 M/T 90 rs758449685 0.4155 None gnomAD-2.1.1 4.02E-06
29196 60 M/T 90 rs758449685 0.4155 None gnomAD-4.0.0 1.59104E-06
29196 60 M/V 90 rs765797994 0.4155 None gnomAD-2.1.1 2.81E-05
29196 60 M/V 90 rs765797994 0.4155 None gnomAD-3.1.2 6.57E-06
29196 60 M/V 90 rs765797994 0.4155 None gnomAD-4.0.0 8.05519E-06
29197 61 M/R 91 None 0.2104 None gnomAD-4.0.0 1.59104E-06
29197 61 M/T 91 None 0.2104 None gnomAD-4.0.0 1.59104E-06
29198 62 K/E 92 None 0.4408 None gnomAD-4.0.0 1.20032E-06
29198 62 K/R 92 rs542970665 0.4408 None gnomAD-3.1.2 6.57E-06
29198 62 K/R 92 rs542970665 0.4408 None 1000 genomes 1.99681E-04
29198 62 K/R 92 rs542970665 0.4408 None gnomAD-4.0.0 6.56452E-06
29198 62 K/T 92 None 0.4408 None gnomAD-4.0.0 4.8013E-06
29199 63 V/L 93 None 0.1440 None gnomAD-4.0.0 1.20032E-06
29200 64 M/I 94 rs750362675 0.6159 None gnomAD-2.1.1 2.36976E-04
29200 64 M/I 94 rs750362675 0.6159 None gnomAD-3.1.2 6.57E-06
29200 64 M/I 94 rs750362675 0.6159 None gnomAD-4.0.0 4.08963E-05
29200 64 M/K 94 None 0.6159 None gnomAD-4.0.0 6.84168E-07
29200 64 M/T 94 None 0.6159 None gnomAD-4.0.0 2.73667E-06
29200 64 M/V 94 rs1553554462 0.6159 None gnomAD-3.1.2 6.57E-06
29200 64 M/V 94 rs1553554462 0.6159 None gnomAD-4.0.0 6.56823E-06
29204 68 T/A 99 None 0.4263 None gnomAD-4.0.0 1.20032E-06
29204 68 T/I 99 rs72648228 0.4263 None gnomAD-2.1.1 4.02E-06
29204 68 T/I 99 rs72648228 0.4263 None gnomAD-4.0.0 6.84163E-07
29204 68 T/K 99 None 0.4263 None gnomAD-4.0.0 6.84163E-07
29204 68 T/P 99 rs765145227 0.4263 None gnomAD-2.1.1 4.02E-06
29204 68 T/P 99 rs765145227 0.4263 None gnomAD-3.1.2 6.57E-06
29204 68 T/P 99 rs765145227 0.4263 None gnomAD-4.0.0 6.56883E-06
29204 68 T/R 99 rs72648228 0.4263 None gnomAD-2.1.1 1.96155E-04
29204 68 T/R 99 rs72648228 0.4263 None gnomAD-3.1.2 5.12517E-04
29204 68 T/R 99 rs72648228 0.4263 None 1000 genomes 1.39776E-03
29204 68 T/R 99 rs72648228 0.4263 None gnomAD-4.0.0 1.05951E-04
29205 69 G/E 100 rs764436476 0.3729 None gnomAD-2.1.1 1.2E-05
29205 69 G/E 100 rs764436476 0.3729 None gnomAD-4.0.0 6.36414E-06
29206 70 E/A 102 None 0.4154 None gnomAD-4.0.0 6.84166E-07
29206 70 E/G 102 rs1702073480 0.4154 None gnomAD-3.1.2 6.57E-06
29206 70 E/G 102 rs1702073480 0.4154 None gnomAD-4.0.0 1.23925E-06
29206 70 E/K 102 rs1364550008 0.4154 None gnomAD-4.0.0 1.59104E-06
29207 71 E/K 103 rs1403726987 0.2898 None gnomAD-2.1.1 3.18E-05
29207 71 E/K 103 rs1403726987 0.2898 None gnomAD-3.1.2 6.57E-06
29207 71 E/K 103 rs1403726987 0.2898 None gnomAD-4.0.0 4.95735E-06
29208 72 Y/F 104 rs201831707 0.1336 None gnomAD-2.1.1 1.99713E-04
29208 72 Y/F 104 rs201831707 0.1336 None gnomAD-3.1.2 1.97055E-04
29208 72 Y/F 104 rs201831707 0.1336 None gnomAD-4.0.0 4.99419E-04
29208 72 Y/H 104 rs760803535 0.1336 None gnomAD-2.1.1 4.02E-06
29208 72 Y/H 104 rs760803535 0.1336 None gnomAD-4.0.0 2.73668E-06
29211 75 R/C 107 rs557805163 0.1158 None gnomAD-2.1.1 4.02E-06
29211 75 R/C 107 rs557805163 0.1158 None gnomAD-3.1.2 6.57E-06
29211 75 R/C 107 rs557805163 0.1158 None gnomAD-4.0.0 9.29499E-06
29211 75 R/H 107 rs370948914 0.1158 None gnomAD-2.1.1 1.43E-05
29211 75 R/H 107 rs370948914 0.1158 None gnomAD-3.1.2 2.63E-05
29211 75 R/H 107 rs370948914 0.1158 None gnomAD-4.0.0 4.21373E-05
29211 75 R/S 107 rs557805163 0.1158 None gnomAD-2.1.1 2.85E-05
29211 75 R/S 107 rs557805163 0.1158 None gnomAD-3.1.2 2.63E-05
29211 75 R/S 107 rs557805163 0.1158 None 1000 genomes 1.99681E-04
29211 75 R/S 107 rs557805163 0.1158 None gnomAD-4.0.0 5.57659E-06
29212 76 I/M 108 None 0.0762 None gnomAD-4.0.0 1.59105E-06
29212 76 I/V 108 None 0.0762 None gnomAD-4.0.0 1.20032E-06
29213 77 K/N 109 rs1001957031 0.3169 None gnomAD-2.1.1 1.43E-05
29213 77 K/N 109 rs1001957031 0.3169 None gnomAD-3.1.2 6.57E-06
29213 77 K/N 109 rs1001957031 0.3169 None gnomAD-4.0.0 2.47861E-06
29213 77 K/R 109 rs780358002 0.3169 None gnomAD-2.1.1 4.02E-06
29213 77 K/R 109 rs780358002 0.3169 None gnomAD-4.0.0 6.8417E-07
29213 77 K/T 109 rs780358002 0.3169 None gnomAD-4.0.0 2.05251E-06
29214 78 A/E 110 None 0.0849 None gnomAD-4.0.0 1.20032E-06
29216 80 N/K 112 None 0.0938 None gnomAD-4.0.0 1.20032E-06
29217 81 R/C 113 rs398124459 0.5119 None gnomAD-3.1.2 1.97E-05
29217 81 R/C 113 rs398124459 0.5119 None gnomAD-4.0.0 9.91457E-06
29217 81 R/H 113 rs749606240 0.5119 None gnomAD-2.1.1 3.92E-05
29217 81 R/H 113 rs749606240 0.5119 None gnomAD-3.1.2 1.97E-05
29217 81 R/H 113 rs749606240 0.5119 None gnomAD-4.0.0 2.29266E-05
29217 81 R/S 113 None 0.5119 None gnomAD-4.0.0 6.84167E-07
29218 82 F/L 114 None 0.3184 None gnomAD-4.0.0 1.59104E-06
29220 84 I/V 117 rs1553554246 0.4538 None gnomAD-4.0.0 1.36833E-06
29221 85 S/G 118 None 0.1000 None gnomAD-4.0.0 1.59102E-06
29221 85 S/N 118 None 0.1000 None gnomAD-4.0.0 1.20032E-06
29222 86 D/H 119 rs1421442862 0.7353 None gnomAD-2.1.1 4.02E-06
29222 86 D/H 119 rs1421442862 0.7353 None gnomAD-4.0.0 1.59104E-06
29223 87 H/P 120 rs369880812 0.3504 None gnomAD-4.0.0 6.84168E-07
29223 87 H/R 120 rs369880812 0.3504 None gnomAD-2.1.1 4.02E-06
29223 87 H/R 120 rs369880812 0.3504 None gnomAD-4.0.0 6.15751E-06
29223 87 H/Y 120 None 0.3504 None gnomAD-4.0.0 1.36835E-06
29224 88 I/T 121 rs878915392 0.1991 None gnomAD-2.1.1 1.07E-05
29224 88 I/T 121 rs878915392 0.1991 None gnomAD-3.1.2 6.57E-06
29224 88 I/T 121 rs878915392 0.1991 None gnomAD-4.0.0 4.33743E-06
29225 89 D/Y 122 None 0.2930 None gnomAD-4.0.0 2.05251E-06
29228 92 C/R 126 rs1488529314 0.3876 None gnomAD-2.1.1 4.02E-06
29228 92 C/R 126 rs1488529314 0.3876 None gnomAD-4.0.0 1.59133E-06
29228 92 C/S 126 rs1250215219 0.3876 None gnomAD-2.1.1 8.04E-06
29228 92 C/S 126 rs1250215219 0.3876 None gnomAD-4.0.0 1.36844E-06
29228 92 C/Y 126 None 0.3876 None gnomAD-4.0.0 6.84222E-07
29230 94 T/S 128 rs1309744961 0.3544 None gnomAD-2.1.1 4.02E-06
29230 94 T/S 128 rs1309744961 0.3544 None gnomAD-4.0.0 1.36849E-06
29231 95 V/L 130 None 0.0950 None gnomAD-4.0.0 3.18283E-06
29233 97 L/V 132 rs1702051933 0.9067 None gnomAD-4.0.0 1.59143E-06