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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
18166 1 L/F 1 rs878953621 0.6041 None gnomAD-4.0.0 6.84993E-07
18168 3 G/R 3 rs2054202979 0.2313 None gnomAD-3.1.2 6.58E-06
18168 3 G/R 3 rs2054202979 0.2313 None gnomAD-4.0.0 6.58207E-06
18169 4 P/H 4 rs2054202479 0.4462 None gnomAD-3.1.2 6.58E-06
18169 4 P/H 4 rs2054202479 0.4462 None gnomAD-4.0.0 6.58094E-06
18169 4 P/L 4 None 0.4462 None gnomAD-4.0.0 2.05477E-06
18169 4 P/R 4 None 0.4462 None gnomAD-4.0.0 6.84925E-07
18171 6 G/R 6 rs751216891 0.2619 None gnomAD-2.1.1 4.04E-06
18171 6 G/R 6 rs751216891 0.2619 None gnomAD-4.0.0 3.42444E-06
18172 7 K/T 7 rs1236991246 0.3447 None gnomAD-2.1.1 4.04E-06
18172 7 K/T 7 rs1236991246 0.3447 None gnomAD-3.1.2 6.58E-06
18172 7 K/T 7 rs1236991246 0.3447 None gnomAD-4.0.0 3.85074E-06
18173 8 P/Q 9 rs794729458 0.1340 None gnomAD-2.1.1 4.04E-06
18173 8 P/Q 9 rs794729458 0.1340 None gnomAD-3.1.2 5.27E-05
18173 8 P/Q 9 rs794729458 0.1340 None gnomAD-4.0.0 1.1167E-05
18173 8 P/S 9 rs766074604 0.1340 None gnomAD-2.1.1 2.36557E-04
18173 8 P/S 9 rs766074604 0.1340 None gnomAD-3.1.2 5.27E-05
18173 8 P/S 9 rs766074604 0.1340 None gnomAD-4.0.0 9.62894E-05
18174 9 K/N 11 None 0.7828 None gnomAD-3.1.2 6.58E-06
18174 9 K/N 11 None 0.7828 None gnomAD-4.0.0 1.24062E-06
18175 10 V/I 12 rs776320086 0.2958 None gnomAD-2.1.1 8.07E-06
18175 10 V/I 12 rs776320086 0.2958 None gnomAD-4.0.0 5.4788E-06
18175 10 V/L 12 None 0.2958 None gnomAD-4.0.0 1.3697E-06
18176 11 L/F 13 rs553262724 0.5981 None gnomAD-2.1.1 3.19E-05
18176 11 L/F 13 rs553262724 0.5981 None gnomAD-3.1.2 6.58E-06
18176 11 L/F 13 rs553262724 0.5981 None gnomAD-4.0.0 4.34202E-06
18176 11 L/M 13 rs1211482141 0.5981 None gnomAD-2.1.1 4.04E-06
18176 11 L/M 13 rs1211482141 0.5981 None gnomAD-3.1.2 6.58E-06
18176 11 L/M 13 rs1211482141 0.5981 None gnomAD-4.0.0 2.48116E-06
18176 11 L/S 13 None 0.5981 None gnomAD-4.0.0 1.3697E-06
18177 12 A/P 14 rs373546809 0.4266 None gnomAD-2.1.1 4.04E-06
18177 12 A/P 14 rs373546809 0.4266 None gnomAD-3.1.2 6.58E-06
18177 12 A/P 14 rs373546809 0.4266 None gnomAD-4.0.0 6.58233E-06
18177 12 A/T 14 None 0.4266 None gnomAD-4.0.0 1.59486E-06
18177 12 A/V 14 None 0.4266 None gnomAD-4.0.0 1.59478E-06
18178 13 R/C 15 rs554701601 0.5437 None gnomAD-2.1.1 2.51E-05
18178 13 R/C 15 rs554701601 0.5437 None gnomAD-3.1.2 2.63E-05
18178 13 R/C 15 rs554701601 0.5437 None 1000 genomes 3.99361E-04
18178 13 R/C 15 rs554701601 0.5437 None gnomAD-4.0.0 2.48118E-05
18178 13 R/G 15 None 0.5437 None gnomAD-4.0.0 6.84881E-07
18178 13 R/H 15 rs879023208 0.5437 None gnomAD-2.1.1 4.04E-06
18178 13 R/H 15 rs879023208 0.5437 None gnomAD-3.1.2 6.58E-06
18178 13 R/H 15 rs879023208 0.5437 None gnomAD-4.0.0 6.82426E-06
18179 14 T/A 16 None 0.3434 None gnomAD-4.0.0 2.05441E-06
18179 14 T/I 16 rs765149899 0.3434 None gnomAD-2.1.1 4.04E-06
18179 14 T/I 16 rs765149899 0.3434 None gnomAD-4.0.0 1.59458E-06
18180 15 K/E 17 None 0.4615 None gnomAD-4.0.0 1.59444E-06
18180 15 K/R 17 rs1283224972 0.4615 None gnomAD-2.1.1 4.04E-06
18180 15 K/R 17 rs1283224972 0.4615 None gnomAD-4.0.0 3.18897E-06
18181 16 G/E 18 rs776456385 0.2287 None gnomAD-4.0.0 6.84793E-07
18181 16 G/R 18 rs761810379 0.2287 None gnomAD-2.1.1 8.07E-06
18181 16 G/R 18 rs761810379 0.2287 None gnomAD-3.1.2 6.58E-06
18181 16 G/R 18 rs761810379 0.2287 None gnomAD-4.0.0 1.24051E-06
18181 16 G/V 18 rs776456385 0.2287 None gnomAD-2.1.1 8.07E-06
18181 16 G/V 18 rs776456385 0.2287 None gnomAD-4.0.0 1.36959E-06
18182 17 S/L 19 rs1470054004 0.2188 None gnomAD-3.1.2 6.58E-06
18182 17 S/L 19 rs1470054004 0.2188 None gnomAD-4.0.0 2.56678E-06
18183 18 M/I 20 rs1217449889 0.0947 None gnomAD-2.1.1 3.19E-05
18183 18 M/I 20 rs1217449889 0.0947 None gnomAD-3.1.2 6.58E-06
18183 18 M/I 20 rs1217449889 0.0947 None gnomAD-4.0.0 6.58085E-06
18183 18 M/V 20 rs1214008596 0.0947 None gnomAD-3.1.2 6.58E-06
18183 18 M/V 20 rs1214008596 0.0947 None gnomAD-4.0.0 6.57929E-06
18187 22 W/C 24 rs2054184713 0.1264 None gnomAD-3.1.2 6.58E-06
18187 22 W/C 24 rs2054184713 0.1264 None gnomAD-4.0.0 6.58042E-06
18187 22 W/G 24 rs796392077 0.1264 None gnomAD-2.1.1 3.19E-05
18187 22 W/G 24 rs796392077 0.1264 None gnomAD-3.1.2 1.32E-05
18187 22 W/G 24 rs796392077 0.1264 None gnomAD-4.0.0 3.04529E-06
18188 23 T/I 25 None 0.5605 None gnomAD-4.0.0 1.59411E-06
18188 23 T/N 25 None 0.5605 None gnomAD-4.0.0 1.59411E-06
18188 23 T/S 25 None 0.5605 None gnomAD-4.0.0 1.59411E-06
18189 24 P/T 26 rs2054184050 0.4581 None gnomAD-3.1.2 6.58E-06
18189 24 P/T 26 rs2054184050 0.4581 None gnomAD-4.0.0 2.03023E-06
18193 28 N/S 30 rs777505893 0.4162 None gnomAD-2.1.1 4.03E-05
18193 28 N/S 30 rs777505893 0.4162 None gnomAD-3.1.2 1.97E-05
18193 28 N/S 30 rs777505893 0.4162 None gnomAD-4.0.0 4.89916E-05
18194 29 G/D 31 rs201802447 0.3657 None gnomAD-2.1.1 7.16E-05
18194 29 G/D 31 rs201802447 0.3657 None gnomAD-3.1.2 5.26E-05
18194 29 G/D 31 rs201802447 0.3657 None gnomAD-4.0.0 7.31786E-05
18194 29 G/S 31 None 0.3657 None gnomAD-4.0.0 1.20032E-06
18195 30 G/S 32 rs2054179912 0.6759 None gnomAD-4.0.0 3.18767E-06
18196 31 S/P 33 None 0.2441 None gnomAD-4.0.0 1.59371E-06
18197 32 P/A 34 rs1475050139 0.7200 None gnomAD-3.1.2 6.58E-06
18197 32 P/A 34 rs1475050139 0.7200 None gnomAD-4.0.0 6.58189E-06
18197 32 P/S 34 rs1475050139 0.7200 None gnomAD-4.0.0 1.59361E-06
18198 33 I/T 35 rs745885044 0.2323 None gnomAD-2.1.1 4.03E-06
18198 33 I/T 35 rs745885044 0.2323 None gnomAD-4.0.0 1.59357E-06
18198 33 I/V 35 None 0.2323 None gnomAD-4.0.0 2.73854E-06
18200 35 G/D 37 None 0.1136 None gnomAD-4.0.0 1.59345E-06
18201 36 Y/H 38 rs779191742 0.1494 None gnomAD-2.1.1 8.06E-06
18201 36 Y/H 38 rs779191742 0.1494 None gnomAD-4.0.0 4.77992E-06
18202 37 W/C 39 rs1476258275 0.1935 None gnomAD-2.1.1 4.03E-06
18202 37 W/C 39 rs1476258275 0.1935 None gnomAD-4.0.0 1.59335E-06
18202 37 W/R 39 None 0.1935 None gnomAD-4.0.0 1.20032E-06
18203 38 L/P 40 rs771560830 0.0938 None gnomAD-2.1.1 4.03E-06
18203 38 L/P 40 rs771560830 0.0938 None gnomAD-4.0.0 4.78005E-06
18203 38 L/V 40 None 0.0938 None gnomAD-4.0.0 1.20032E-06
18204 39 E/G 41 rs778173480 0.1341 None gnomAD-4.0.0 1.5949E-05
18204 39 E/Q 41 rs749849370 0.1341 None gnomAD-2.1.1 1.21E-05
18204 39 E/Q 41 rs749849370 0.1341 None gnomAD-3.1.2 6.58E-06
18204 39 E/Q 41 rs749849370 0.1341 None gnomAD-4.0.0 6.82064E-06
18204 39 E/V 41 rs778173480 0.1341 None gnomAD-2.1.1 4.04E-06
18204 39 E/V 41 rs778173480 0.1341 None gnomAD-4.0.0 1.59476E-06
18206 41 R/T 43 None 0.2081 None gnomAD-4.0.0 1.59315E-06
18207 42 E/K 44 None 0.3947 None gnomAD-4.0.0 1.59316E-06
18208 43 E/K 50 rs575533984 0.4503 None gnomAD-2.1.1 1.61E-05
18208 43 E/K 50 rs575533984 0.4503 None gnomAD-3.1.2 6.58E-06
18208 43 E/K 50 rs575533984 0.4503 None 1000 genomes 1.99681E-04
18208 43 E/K 50 rs575533984 0.4503 None gnomAD-4.0.0 6.20001E-06
18210 45 S/I 60 None 0.2420 None gnomAD-4.0.0 6.84561E-07
18210 45 S/T 60 None 0.2420 None gnomAD-4.0.0 6.84561E-07
18211 46 P/L 63 rs764772164 0.6774 None gnomAD-3.1.2 6.58E-06
18211 46 P/L 63 rs764772164 0.6774 None gnomAD-4.0.0 1.86004E-06
18211 46 P/R 63 rs764772164 0.6774 None gnomAD-3.1.2 1.32E-05
18211 46 P/R 63 rs764772164 0.6774 None gnomAD-4.0.0 1.67415E-05
18211 46 P/S 63 rs727504192 0.6774 None gnomAD-3.1.2 6.58E-06
18211 46 P/S 63 rs727504192 0.6774 None gnomAD-4.0.0 6.58085E-06
18211 46 P/T 63 rs727504192 0.6774 None gnomAD-2.1.1 7.86E-05
18211 46 P/T 63 rs727504192 0.6774 None gnomAD-3.1.2 8.56E-05
18211 46 P/T 63 rs727504192 0.6774 None gnomAD-4.0.0 2.03997E-04
18212 47 Y/F 64 rs772610346 0.9767 None gnomAD-4.0.0 2.40064E-06
18213 48 W/S 65 None 0.2381 None gnomAD-4.0.0 1.59315E-06
18215 50 R/C 67 rs187167219 0.3145 None gnomAD-2.1.1 6.44E-05
18215 50 R/C 67 rs187167219 0.3145 None gnomAD-3.1.2 1.32E-05
18215 50 R/C 67 rs187167219 0.3145 None 1000 genomes 1.99681E-04
18215 50 R/C 67 rs187167219 0.3145 None gnomAD-4.0.0 2.04608E-05
18215 50 R/H 67 rs183010574 0.3145 None gnomAD-2.1.1 1.21E-05
18215 50 R/H 67 rs183010574 0.3145 None gnomAD-3.1.2 6.58E-06
18215 50 R/H 67 rs183010574 0.3145 None gnomAD-4.0.0 1.24007E-05
18215 50 R/P 67 rs183010574 0.3145 None gnomAD-2.1.1 2.86E-05
18215 50 R/P 67 rs183010574 0.3145 None gnomAD-3.1.2 1.32E-05
18215 50 R/P 67 rs183010574 0.3145 None 1000 genomes 1.99681E-04
18215 50 R/P 67 rs183010574 0.3145 None gnomAD-4.0.0 8.67985E-06
18216 51 V/I 68 rs2054164910 0.2063 None gnomAD-3.1.2 1.32E-05
18216 51 V/I 68 rs2054164910 0.2063 None gnomAD-4.0.0 5.13006E-06
18217 52 S/G 69 rs201001270 0.2071 None gnomAD-2.1.1 2.86E-05
18217 52 S/G 69 rs201001270 0.2071 None gnomAD-3.1.2 3.95E-05
18217 52 S/G 69 rs201001270 0.2071 None gnomAD-4.0.0 6.51028E-05
18218 53 R/Q 70 rs143643360 1.0205 None gnomAD-2.1.1 1.79E-05
18218 53 R/Q 70 rs143643360 1.0205 None gnomAD-3.1.2 1.32E-05
18218 53 R/Q 70 rs143643360 1.0205 None 1000 genomes 1.99681E-04
18218 53 R/Q 70 rs143643360 1.0205 None gnomAD-4.0.0 2.728E-05
18219 54 A/V 72 rs546735795 0.3959 None gnomAD-2.1.1 4.02E-06
18219 54 A/V 72 rs546735795 0.3959 None gnomAD-3.1.2 6.58E-06
18219 54 A/V 72 rs546735795 0.3959 None 1000 genomes 1.99681E-04
18219 54 A/V 72 rs546735795 0.3959 None gnomAD-4.0.0 6.57825E-06
18221 56 I/L 77 rs375091820 0.1216 None gnomAD-2.1.1 4.02E-06
18221 56 I/L 77 rs375091820 0.1216 None gnomAD-4.0.0 6.8451E-07
18221 56 I/T 77 rs1418665991 0.1216 None gnomAD-2.1.1 4.02E-06
18221 56 I/T 77 rs1418665991 0.1216 None gnomAD-4.0.0 1.59294E-06
18221 56 I/V 77 rs375091820 0.1216 None gnomAD-2.1.1 2.14E-05
18221 56 I/V 77 rs375091820 0.1216 None gnomAD-4.0.0 1.57437E-05
18223 58 K/T 79 rs771180692 0.9802 None gnomAD-2.1.1 3.93E-05
18223 58 K/T 79 rs771180692 0.9802 None gnomAD-3.1.2 1.97E-05
18223 58 K/T 79 rs771180692 0.9802 None gnomAD-4.0.0 1.11609E-05
18224 59 V/A 80 rs749405835 0.5990 None gnomAD-2.1.1 4.02E-06
18224 59 V/A 80 rs749405835 0.5990 None gnomAD-4.0.0 9.55782E-06
18225 60 G/V 81 rs886038866 0.3035 None gnomAD-4.0.0 9.55773E-06
18227 62 K/N 83 rs371332455 1.0756 None gnomAD-2.1.1 8.04E-06
18227 62 K/N 83 rs371332455 1.0756 None gnomAD-4.0.0 1.59306E-06
18228 63 G/D 88 rs2154194670 0.2496 None gnomAD-3.1.2 6.58E-06
18228 63 G/D 88 rs2154194670 0.2496 None gnomAD-4.0.0 6.57592E-06
18229 64 V/L 89 rs116142642 0.0843 None gnomAD-2.1.1 2.01E-05
18229 64 V/L 89 rs116142642 0.0843 None gnomAD-4.0.0 3.4227E-06
18229 64 V/M 89 rs116142642 0.0843 None gnomAD-2.1.1 1.39335E-04
18229 64 V/M 89 rs116142642 0.0843 None gnomAD-3.1.2 1.11891E-04
18229 64 V/M 89 rs116142642 0.0843 None 1000 genomes 5.99042E-04
18229 64 V/M 89 rs116142642 0.0843 None gnomAD-4.0.0 6.94407E-05
18230 65 E/V 90 None 0.4591 None gnomAD-4.0.0 3.60097E-06
18231 66 F/L 91 None 0.2282 None gnomAD-4.0.0 1.20032E-06
18233 68 V/A 93 None 0.1066 None gnomAD-4.0.0 1.5933E-06
18233 68 V/D 93 rs1060500469 0.1066 None gnomAD-3.1.2 6.58E-06
18233 68 V/D 93 rs1060500469 0.1066 None gnomAD-4.0.0 6.5825E-06
18233 68 V/I 93 rs374996996 0.1066 None gnomAD-2.1.1 8.05E-06
18234 69 P/T 94 rs1060500416 0.4062 None gnomAD-3.1.2 6.58E-06
18234 69 P/T 94 rs1060500416 0.4062 None gnomAD-4.0.0 6.58371E-06
18235 70 R/C 96 rs758019427 0.7782 None gnomAD-2.1.1 1.21E-05
18235 70 R/C 96 rs758019427 0.7782 None gnomAD-4.0.0 2.73845E-06
18235 70 R/G 96 rs758019427 0.7782 None gnomAD-2.1.1 8.05E-06
18235 70 R/G 96 rs758019427 0.7782 None gnomAD-3.1.2 6.59E-06
18235 70 R/G 96 rs758019427 0.7782 None gnomAD-4.0.0 3.10069E-06
18235 70 R/H 96 rs750125113 0.7782 None gnomAD-2.1.1 8.05E-06
18235 70 R/H 96 rs750125113 0.7782 None gnomAD-4.0.0 8.89995E-06
18236 71 L/F 97 rs1273412223 0.1348 None gnomAD-2.1.1 4.02E-06
18236 71 L/F 97 rs1273412223 0.1348 None gnomAD-4.0.0 1.59341E-06
18236 71 L/S 97 None 0.1348 None gnomAD-4.0.0 2.05377E-06
18236 71 L/W 97 None 0.1348 None gnomAD-4.0.0 6.84589E-07
18237 72 L/P 98 rs201412693 0.6850 None gnomAD-2.1.1 6.42972E-04
18237 72 L/P 98 rs201412693 0.6850 None gnomAD-3.1.2 6.12076E-04
18237 72 L/P 98 rs201412693 0.6850 None 1000 genomes 7.98722E-04
18237 72 L/P 98 rs201412693 0.6850 CNM
Literature None
18237 72 L/P 98 rs201412693 0.6850 None gnomAD-4.0.0 9.12083E-04
18237 72 L/R 98 rs201412693 0.6850 None gnomAD-2.1.1 4.02E-06
18237 72 L/R 98 rs201412693 0.6850 None gnomAD-4.0.0 1.1638E-05
18238 73 E/Q 99 None 0.5409 None gnomAD-4.0.0 1.59345E-06
18240 75 V/I 102 rs375141729 0.1974 None gnomAD-2.1.1 4.64E-05
18240 75 V/I 102 rs375141729 0.1974 None gnomAD-3.1.2 1.84327E-04
18240 75 V/I 102 rs375141729 0.1974 None gnomAD-4.0.0 5.20872E-05
18243 78 Q/E 105 rs372447571 0.1571 None gnomAD-2.1.1 4.02E-06
18243 78 Q/E 105 rs372447571 0.1571 None gnomAD-4.0.0 2.05395E-06
18243 78 Q/H 105 rs548723690 0.1571 None gnomAD-2.1.1 8.05E-06
18243 78 Q/H 105 rs548723690 0.1571 None gnomAD-3.1.2 1.32E-05
18243 78 Q/H 105 rs548723690 0.1571 None 1000 genomes 1.99681E-04
18243 78 Q/H 105 rs548723690 0.1571 None gnomAD-4.0.0 2.4804E-06
18244 79 F/L 106 rs1301615048 0.1230 None gnomAD-2.1.1 1.07E-05
18244 79 F/L 106 rs1301615048 0.1230 None gnomAD-3.1.2 1.97E-05
18244 79 F/L 106 rs1301615048 0.1230 None gnomAD-4.0.0 6.41513E-06
18245 80 R/G 107 rs2054149835 0.1739 None gnomAD-3.1.2 6.58E-06
18245 80 R/G 107 rs2054149835 0.1739 None gnomAD-4.0.0 6.58085E-06
18245 80 R/K 107 None 0.1739 None gnomAD-4.0.0 2.05397E-06
18245 80 R/T 107 None 0.1739 None gnomAD-4.0.0 1.36931E-06
18247 82 M/I 109 rs368858337 0.1454 None gnomAD-2.1.1 1.21E-05
18247 82 M/I 109 rs368858337 0.1454 None gnomAD-3.1.2 6.58E-06
18247 82 M/I 109 rs368858337 0.1454 None gnomAD-4.0.0 1.61261E-05
18247 82 M/T 109 rs200585270 0.1454 None gnomAD-2.1.1 2.93098E-04
18247 82 M/T 109 rs200585270 0.1454 None gnomAD-3.1.2 1.51348E-04
18247 82 M/T 109 rs200585270 0.1454 None gnomAD-4.0.0 1.27761E-04
18251 86 A/T 113 None 0.6502 None gnomAD-4.0.0 1.20032E-06
18252 87 A/V 114 rs551602191 0.4694 None gnomAD-2.1.1 4.03E-06
18252 87 A/V 114 rs551602191 0.4694 None gnomAD-3.1.2 6.58E-06
18252 87 A/V 114 rs551602191 0.4694 None gnomAD-4.0.0 1.2837E-05
18253 88 G/A 115 None 0.2010 None gnomAD-4.0.0 1.59524E-06
18253 88 G/R 115 None 0.2010 None gnomAD-4.0.0 1.5949E-06
18254 89 I/F 117 rs766737617 0.4497 None gnomAD-2.1.1 1.21E-05
18254 89 I/F 117 rs766737617 0.4497 None gnomAD-3.1.2 6.58E-06
18254 89 I/F 117 rs766737617 0.4497 None gnomAD-4.0.0 1.36479E-05
18254 89 I/T 117 rs1356331923 0.4497 None gnomAD-2.1.1 4.03E-06
18254 89 I/T 117 rs1356331923 0.4497 None gnomAD-4.0.0 3.42479E-06
18255 90 G/A 118 None 0.2115 None gnomAD-4.0.0 6.85044E-07
18255 90 G/S 118 rs762872466 0.2115 None gnomAD-2.1.1 4.03E-06
18255 90 G/S 118 rs762872466 0.2115 None gnomAD-4.0.0 1.59559E-06
18257 92 P/L 120 rs1429008245 0.4096 None gnomAD-4.0.0 1.59652E-06
18258 93 S/N 121 None 0.1268 None gnomAD-4.0.0 6.85289E-07
18258 93 S/T 121 rs770198717 0.1268 None gnomAD-2.1.1 4.03E-06
18259 94 E/K 122 None 0.5904 None gnomAD-4.0.0 1.20032E-06
18260 95 P/T 123 None 0.3330 None gnomAD-4.0.0 1.59858E-06
18261 96 S/P 124 None 0.1119 None gnomAD-4.0.0 1.20032E-06
18262 97 D/G 125 None 0.6956 None gnomAD-4.0.0 1.6019E-06
18263 98 P/A 126 None 0.3548 None gnomAD-4.0.0 1.60278E-06
18263 98 P/L 126 None 0.3548 None gnomAD-4.0.0 6.86437E-07
18264 99 E/A 127 None 0.3414 None gnomAD-4.0.0 1.60669E-06
18264 99 E/K 127 rs1253287416 0.3414 None gnomAD-2.1.1 4.04E-06
18264 99 E/K 127 rs1253287416 0.3414 None gnomAD-4.0.0 4.12128E-06
18264 99 E/Q 127 rs1253287416 0.3414 None gnomAD-4.0.0 2.74752E-06
18265 100 V/A 129 rs2054138018 0.3837 None gnomAD-3.1.2 6.58E-06
18265 100 V/A 129 rs2054138018 0.3837 None gnomAD-4.0.0 3.91767E-06
18265 100 V/I 129 rs397517621 0.3837 None gnomAD-4.0.0 1.61921E-06
18266 101 A/S 130 rs199837769 0.1117 None gnomAD-2.1.1 1.15539E-04
18266 101 A/S 130 rs199837769 0.1117 None gnomAD-3.1.2 1.1844E-04
18266 101 A/S 130 rs199837769 0.1117 None gnomAD-4.0.0 1.40839E-04
18266 101 A/T 130 None 0.1117 None gnomAD-4.0.0 1.38351E-06
18267 102 G/E 131 rs878876923 0.2180 None gnomAD-3.1.2 6.58E-06
18267 102 G/E 131 rs878876923 0.2180 None gnomAD-4.0.0 2.61866E-06
18268 103 D/H 132 rs776957882 0.6505 None gnomAD-2.1.1 4.11E-06
18268 103 D/H 132 rs776957882 0.6505 None gnomAD-4.0.0 1.67442E-06
18268 103 D/N 132 None 0.6505 None gnomAD-3.1.2 6.58E-06
18268 103 D/N 132 None 0.6505 None gnomAD-4.0.0 2.66966E-06
18268 103 D/Y 132 rs776957882 0.6505 None gnomAD-4.0.0 1.67442E-06