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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
9205 1 P/L 1 rs758238716 0.1310 None gnomAD-3.1.2 6.58E-06
9205 1 P/L 1 rs758238716 0.1310 None gnomAD-4.0.0 2.4805E-06
9205 1 P/S 1 rs1216622524 0.1310 None gnomAD-3.1.2 6.58E-06
9205 1 P/S 1 rs1216622524 0.1310 None gnomAD-4.0.0 1.24025E-06
9205 1 P/T 1 rs1216622524 0.1310 None gnomAD-4.0.0 6.84692E-07
9206 2 Y/C 2 None 0.3190 None gnomAD-4.0.0 1.36922E-06
9207 3 F/V 3 rs765453217 0.1691 None gnomAD-2.1.1 1.79E-05
9207 3 F/V 3 rs765453217 0.1691 None gnomAD-3.1.2 1.31E-05
9207 3 F/V 3 rs765453217 0.1691 None gnomAD-4.0.0 1.79798E-05
9208 4 V/A 4 rs753893157 0.3803 None gnomAD-2.1.1 2.02E-05
9208 4 V/A 4 rs753893157 0.3803 None gnomAD-4.0.0 1.36895E-05
9208 4 V/I 4 None 0.3803 None gnomAD-4.0.0 6.84525E-07
9208 4 V/L 4 rs761956896 0.3803 None gnomAD-2.1.1 8.06E-06
9208 4 V/L 4 rs761956896 0.3803 None gnomAD-4.0.0 1.36905E-06
9209 5 K/E 5 rs148355969 0.3609 None gnomAD-2.1.1 8.23E-05
9209 5 K/E 5 rs148355969 0.3609 None gnomAD-3.1.2 2.10333E-04
9209 5 K/E 5 rs148355969 0.3609 None 1000 genomes 7.98722E-04
9209 5 K/E 5 rs148355969 0.3609 None gnomAD-4.0.0 4.89684E-05
9209 5 K/R 5 rs775941896 0.3609 None gnomAD-2.1.1 4.03E-06
9209 5 K/R 5 rs775941896 0.3609 None gnomAD-4.0.0 1.59251E-06
9210 6 Q/E 7 rs759893948 0.4573 None gnomAD-2.1.1 1.61E-05
9210 6 Q/E 7 rs759893948 0.4573 None gnomAD-3.1.2 6.57E-06
9210 6 Q/E 7 rs759893948 0.4573 None gnomAD-4.0.0 5.12763E-06
9210 6 Q/H 7 None 0.4573 None gnomAD-4.0.0 4.79085E-06
9210 6 Q/K 7 rs759893948 0.4573 None gnomAD-2.1.1 4.03E-06
9210 6 Q/K 7 rs759893948 0.4573 None gnomAD-3.1.2 6.57E-06
9210 6 Q/K 7 rs759893948 0.4573 None gnomAD-4.0.0 3.84572E-06
9211 7 L/F 8 rs1197586368 0.1518 None gnomAD-4.0.0 1.20034E-06
9212 8 E/K 9 rs769421279 0.5296 None gnomAD-2.1.1 7.15E-06
9212 8 E/K 9 rs769421279 0.5296 None gnomAD-3.1.2 6.57E-06
9212 8 E/K 9 rs769421279 0.5296 None gnomAD-4.0.0 3.84493E-06
9213 9 P/L 11 rs747751433 0.3205 None gnomAD-2.1.1 2.15E-05
9213 9 P/L 11 rs747751433 0.3205 None gnomAD-3.1.2 1.32E-05
9213 9 P/L 11 rs747751433 0.3205 None gnomAD-4.0.0 1.05374E-05
9213 9 P/T 11 None 0.3205 None gnomAD-4.0.0 6.8436E-07
9214 10 V/I 13 rs987421243 0.2767 None gnomAD-2.1.1 3.19E-05
9214 10 V/I 13 rs987421243 0.2767 None gnomAD-3.1.2 6.57E-06
9214 10 V/I 13 rs987421243 0.2767 None gnomAD-4.0.0 6.57462E-06
9215 11 K/N 14 rs768260006 0.2846 None gnomAD-4.0.0 2.05274E-06
9215 11 K/T 14 None 0.2846 None gnomAD-4.0.0 1.20032E-06
9216 12 V/L 16 rs2076754022 0.3574 None gnomAD-4.0.0 1.59154E-06
9218 14 V/A 23 None 1.1008 None gnomAD-4.0.0 1.59132E-06
9218 14 V/F 23 rs746558975 1.1008 None gnomAD-2.1.1 4.43E-05
9218 14 V/F 23 rs746558975 1.1008 None gnomAD-3.1.2 5.26E-05
9218 14 V/F 23 rs746558975 1.1008 None gnomAD-4.0.0 2.85069E-05
9218 14 V/I 23 None 1.1008 None gnomAD-4.0.0 6.84227E-07
9219 15 G/R 24 None 0.5226 None gnomAD-4.0.0 1.59135E-06
9220 16 D/N 25 rs758435347 0.5017 None gnomAD-2.1.1 8.05E-06
9220 16 D/N 25 rs758435347 0.5017 None gnomAD-4.0.0 4.78952E-06
9220 16 D/V 25 None 0.5017 None gnomAD-4.0.0 1.20032E-06
9222 18 A/S 28 None 0.2285 None gnomAD-4.0.0 1.20032E-06
9222 18 A/V 28 rs786205313 0.2285 None gnomAD-2.1.1 4.02E-06
9222 18 A/V 28 rs786205313 0.2285 None gnomAD-4.0.0 7.95639E-06
9223 19 S/F 29 rs778581432 0.3560 None gnomAD-2.1.1 4.02E-06
9223 19 S/F 29 rs778581432 0.3560 None gnomAD-4.0.0 6.84208E-06
9223 19 S/P 29 rs201253546 0.3560 None gnomAD-2.1.1 8.93E-05
9223 19 S/P 29 rs201253546 0.3560 None gnomAD-3.1.2 1.97E-05
9223 19 S/P 29 rs201253546 0.3560 None gnomAD-4.0.0 4.2758E-05
9223 19 S/Y 29 None 0.3560 None gnomAD-4.0.0 6.84208E-07
9224 20 L/P 30 None 0.1878 None gnomAD-4.0.0 1.59124E-06
9225 21 Q/P 31 None 0.5279 None gnomAD-4.0.0 1.59124E-06
9225 21 Q/R 31 rs2076750199 0.5279 None gnomAD-4.0.0 4.77371E-06
9226 22 C/R 33 rs372820178 0.0944 None gnomAD-2.1.1 2.86E-05
9226 22 C/R 33 rs372820178 0.0944 None gnomAD-3.1.2 3.29E-05
9226 22 C/R 33 rs372820178 0.0944 None 1000 genomes 1.99681E-04
9226 22 C/R 33 rs372820178 0.0944 None gnomAD-4.0.0 1.23311E-04
9226 22 C/Y 33 rs369108107 0.0944 None gnomAD-2.1.1 8.05E-06
9226 22 C/Y 33 rs369108107 0.0944 None gnomAD-3.1.2 6.57E-06
9226 22 C/Y 33 rs369108107 0.0944 None gnomAD-4.0.0 9.29559E-06
9227 23 Q/H 34 rs1214925721 0.3436 None gnomAD-2.1.1 4.02E-06
9227 23 Q/H 34 rs1214925721 0.3436 None gnomAD-4.0.0 1.59123E-06
9227 23 Q/P 34 rs1262905911 0.3436 None gnomAD-2.1.1 4.02E-06
9227 23 Q/P 34 rs1262905911 0.3436 None gnomAD-4.0.0 6.84199E-07
9227 23 Q/R 34 rs1262905911 0.3436 None gnomAD-4.0.0 1.23156E-05
9228 24 L/P 35 rs756143599 0.1252 None gnomAD-2.1.1 8.05E-06
9228 24 L/P 35 rs756143599 0.1252 None gnomAD-3.1.2 6.57E-06
9228 24 L/P 35 rs756143599 0.1252 None gnomAD-4.0.0 7.68628E-06
9229 25 A/S 38 None 0.1705 None gnomAD-4.0.0 7.20193E-06
9230 26 G/E 40 None 0.2052 None gnomAD-4.0.0 1.59123E-06
9232 28 P/L 42 rs1354298331 0.4441 None gnomAD-2.1.1 8.05E-06
9232 28 P/L 42 rs1354298331 0.4441 None gnomAD-4.0.0 1.59123E-06
9232 28 P/S 42 rs1228009511 0.4441 None gnomAD-2.1.1 4.02E-06
9232 28 P/S 42 rs1228009511 0.4441 None gnomAD-4.0.0 1.59122E-06
9233 29 E/A 43 None 0.9869 None gnomAD-4.0.0 4.77374E-06
9235 31 G/V 45 None 0.2740 None gnomAD-4.0.0 1.20032E-06
9236 32 V/A 46 rs1034794926 0.3179 None gnomAD-4.0.0 2.73685E-06
9236 32 V/I 46 rs774989128 0.3179 None gnomAD-2.1.1 8.05E-06
9236 32 V/I 46 rs774989128 0.3179 None gnomAD-4.0.0 6.84216E-06
9237 33 S/A 47 rs766638714 0.2438 None gnomAD-2.1.1 1.21408E-04
9237 33 S/A 47 rs766638714 0.2438 None gnomAD-3.1.2 5.92E-05
9237 33 S/A 47 rs766638714 0.2438 None gnomAD-4.0.0 2.4788E-05
9237 33 S/F 47 rs1297278620 0.2438 None gnomAD-2.1.1 4.02E-06
9237 33 S/F 47 rs1297278620 0.2438 None gnomAD-4.0.0 2.05262E-06
9237 33 S/Y 47 rs1297278620 0.2438 None gnomAD-2.1.1 4.02E-06
9237 33 S/Y 47 rs1297278620 0.2438 None gnomAD-4.0.0 2.05262E-06
9239 35 Y/C 49 rs559945666 0.2118 None gnomAD-3.1.2 6.57E-06
9239 35 Y/C 49 rs559945666 0.2118 None gnomAD-4.0.0 2.56219E-06
9239 35 Y/H 49 rs373068293 0.2118 None gnomAD-2.1.1 4.28E-05
9239 35 Y/H 49 rs373068293 0.2118 None gnomAD-3.1.2 1.18343E-04
9239 35 Y/H 49 rs373068293 0.2118 None gnomAD-4.0.0 2.97443E-05
9241 37 G/E 51 rs2154295843 0.2931 None gnomAD-3.1.2 6.58E-06
9241 37 G/E 51 rs2154295843 0.2931 None gnomAD-4.0.0 6.57056E-06
9241 37 G/V 51 None 0.2931 None gnomAD-4.0.0 1.59129E-06
9242 38 D/Y 52 rs746470885 1.0751 None gnomAD-2.1.1 1.21E-05
9242 38 D/Y 52 rs746470885 1.0751 None gnomAD-3.1.2 1.97E-05
9242 38 D/Y 52 rs746470885 1.0751 None gnomAD-4.0.0 5.08171E-05
9243 39 T/P 55 None 0.6006 None gnomAD-4.0.0 6.84215E-07
9243 39 T/S 55 None 0.6006 None gnomAD-4.0.0 6.84215E-07
9246 42 R/I 59 rs1404441295 0.8429 None gnomAD-3.1.2 6.57E-06
9246 42 R/I 59 rs1404441295 0.8429 None gnomAD-4.0.0 3.84354E-06
9246 42 R/K 59 rs1404441295 0.8429 None gnomAD-2.1.1 4.02E-06
9246 42 R/K 59 rs1404441295 0.8429 None gnomAD-3.1.2 6.57E-06
9246 42 R/K 59 rs1404441295 0.8429 None gnomAD-4.0.0 2.56236E-06
9246 42 R/S 59 None 0.8429 None gnomAD-4.0.0 1.59125E-06
9247 43 P/L 70 rs775155957 0.5830 None gnomAD-2.1.1 4.02E-06
9247 43 P/L 70 rs775155957 0.5830 None gnomAD-4.0.0 3.18257E-06
9247 43 P/S 70 rs1475796244 0.5830 None gnomAD-2.1.1 3.18E-05
9247 43 P/S 70 rs1475796244 0.5830 None gnomAD-3.1.2 6.57E-06
9247 43 P/S 70 rs1475796244 0.5830 None gnomAD-4.0.0 6.57428E-06
9248 44 T/I 73 rs397517523 0.2475 None gnomAD-2.1.1 4.02E-06
9248 44 T/I 73 rs397517523 0.2475 None gnomAD-4.0.0 6.84213E-07
9248 44 T/N 73 rs397517523 0.2475 None gnomAD-3.1.2 1.31E-05
9248 44 T/N 73 rs397517523 0.2475 None gnomAD-4.0.0 6.81618E-06
9249 45 T/A 102 rs1426023267 0.9254 None gnomAD-2.1.1 3.18E-05
9249 45 T/A 102 rs1426023267 0.9254 None gnomAD-3.1.2 6.57E-06
9249 45 T/A 102 rs1426023267 0.9254 None gnomAD-4.0.0 3.09848E-06
9249 45 T/M 102 rs745792278 0.9254 None gnomAD-2.1.1 2.5E-05
9249 45 T/M 102 rs745792278 0.9254 None gnomAD-3.1.2 1.31E-05
9249 45 T/M 102 rs745792278 0.9254 None gnomAD-4.0.0 1.54931E-05
9251 47 Y/C 121 rs2076738638 0.2722 None gnomAD-3.1.2 1.31E-05
9251 47 Y/C 121 rs2076738638 0.2722 None gnomAD-4.0.0 3.0447E-06
9253 49 M/I 123 rs1477695783 0.2346 None gnomAD-2.1.1 3.18E-05
9253 49 M/I 123 rs1477695783 0.2346 None gnomAD-3.1.2 6.57E-06
9253 49 M/I 123 rs1477695783 0.2346 None gnomAD-4.0.0 2.03E-06
9253 49 M/T 123 None 0.2346 None gnomAD-4.0.0 1.59128E-06
9254 50 H/N 125 rs1191894899 0.5604 None gnomAD-2.1.1 4.02E-06
9254 50 H/N 125 rs1191894899 0.5604 None gnomAD-4.0.0 3.18256E-06
9255 51 F/V 127 rs2076737035 0.3397 None gnomAD-4.0.0 2.05263E-06
9256 52 R/S 130 None 0.7956 None gnomAD-4.0.0 1.59129E-06
9257 53 N/S 131 rs1448296665 0.9250 None gnomAD-4.0.0 2.73685E-06
9258 54 N/K 134 rs749135942 0.4815 None gnomAD-2.1.1 1.2E-05
9258 54 N/K 134 rs749135942 0.4815 None gnomAD-4.0.0 2.73685E-06
9258 54 N/T 134 None 0.4815 None gnomAD-4.0.0 1.36843E-06
9259 55 V/I 135 rs2076736013 0.2729 None gnomAD-4.0.0 6.36511E-06
9260 56 A/S 136 rs777920428 0.0912 None gnomAD-2.1.1 4.02E-06
9260 56 A/S 136 rs777920428 0.0912 None gnomAD-4.0.0 6.36529E-06
9260 56 A/T 136 rs777920428 0.0912 None gnomAD-2.1.1 4.02E-06
9260 56 A/V 136 None 0.0912 None gnomAD-4.0.0 1.20032E-06
9261 57 T/A 137 None 0.2233 None gnomAD-4.0.0 1.20032E-06
9262 58 L/V 138 rs897313799 0.0787 None gnomAD-3.1.2 6.57E-06
9262 58 L/V 138 rs897313799 0.0787 None gnomAD-4.0.0 6.57125E-06
9263 59 V/A 139 None 0.3144 None gnomAD-4.0.0 1.59131E-06
9264 60 F/C 140 None 0.1743 None gnomAD-4.0.0 1.20032E-06
9265 61 N/H 141 rs397517524 0.6453 None gnomAD-2.1.1 3.57E-05
9265 61 N/H 141 rs397517524 0.6453 None gnomAD-3.1.2 7.23E-05
9265 61 N/H 141 rs397517524 0.6453 None gnomAD-4.0.0 3.16042E-05
9265 61 N/S 141 rs752705285 0.6453 None gnomAD-2.1.1 8.03E-06
9265 61 N/S 141 rs752705285 0.6453 None gnomAD-4.0.0 8.89489E-06
9266 62 Q/H 143 rs543197876 0.8467 None gnomAD-4.0.0 4.78964E-06
9266 62 Q/L 143 None 0.8467 None gnomAD-4.0.0 1.59135E-06
9267 63 V/A 144 rs755143548 0.3356 None gnomAD-2.1.1 8.03E-06
9267 63 V/A 144 rs755143548 0.3356 None gnomAD-3.1.2 6.57E-06
9267 63 V/A 144 rs755143548 0.3356 None gnomAD-4.0.0 1.48724E-05
9267 63 V/G 144 None 0.3356 None gnomAD-4.0.0 6.8422E-07
9267 63 V/I 144 rs1476692496 0.3356 None gnomAD-3.1.2 6.57E-06
9267 63 V/I 144 rs1476692496 0.3356 None gnomAD-4.0.0 6.57186E-06
9268 64 D/N 145 rs751988610 0.3967 None gnomAD-2.1.1 4.02E-06
9268 64 D/N 145 rs751988610 0.3967 None gnomAD-4.0.0 1.59139E-06
9269 65 I/T 146 rs2076732210 0.9157 None gnomAD-3.1.2 6.57E-06
9269 65 I/T 146 rs2076732210 0.9157 None gnomAD-4.0.0 6.56953E-06
9269 65 I/V 146 rs766951571 0.9157 None gnomAD-2.1.1 1.43E-05
9269 65 I/V 146 rs766951571 0.9157 None gnomAD-3.1.2 6.57E-06
9269 65 I/V 146 rs766951571 0.9157 None gnomAD-4.0.0 1.53726E-05
9270 66 N/S 148 rs763189626 0.6856 None gnomAD-2.1.1 1.61E-05
9270 66 N/S 148 rs763189626 0.6856 None gnomAD-3.1.2 1.31E-05
9270 66 N/S 148 rs763189626 0.6856 None gnomAD-4.0.0 4.08994E-05
9271 67 D/N 149 None 0.2638 None gnomAD-4.0.0 1.20032E-06
9272 68 S/R 151 None 0.6084 None gnomAD-4.0.0 1.20032E-06
9272 68 S/T 151 rs763783812 0.6084 None gnomAD-2.1.1 2.81E-05
9272 68 S/T 151 rs763783812 0.6084 None gnomAD-4.0.0 1.43693E-05
9273 69 G/E 152 None 0.3088 None gnomAD-4.0.0 1.20032E-06
9273 69 G/R 152 None 0.3088 None gnomAD-4.0.0 1.59157E-06
9275 71 Y/C 154 rs72648996 0.1427 None gnomAD-2.1.1 6.43E-05
9275 71 Y/C 154 rs72648996 0.1427 None gnomAD-3.1.2 4.6E-05
9275 71 Y/C 154 rs72648996 0.1427 ARVC
Literature None
9275 71 Y/C 154 rs72648996 0.1427 None gnomAD-4.0.0 4.95845E-05
9275 71 Y/S 154 None 0.1427 None gnomAD-4.0.0 1.36873E-06
9276 72 I/L 155 rs1289827097 0.2269 None gnomAD-3.1.2 6.57E-06
9276 72 I/L 155 rs1289827097 0.2269 None gnomAD-4.0.0 6.56935E-06
9276 72 I/T 155 None 0.2269 None gnomAD-4.0.0 1.20032E-06
9276 72 I/V 155 rs1289827097 0.2269 None gnomAD-4.0.0 1.36871E-06
9277 73 C/S 156 None 0.0857 None gnomAD-4.0.0 7.20193E-06
9278 74 K/I 157 None 0.2733 None gnomAD-4.0.0 1.20032E-06
9279 75 A/T 158 None 0.1048 None gnomAD-4.0.0 1.36967E-06
9280 76 E/G 159 None 0.5007 None gnomAD-4.0.0 1.59669E-06
9282 78 S/R 162 rs771474147 0.6544 None gnomAD-2.1.1 1.62E-05
9282 78 S/R 162 rs771474147 0.6544 None gnomAD-3.1.2 1.31E-05
9282 78 S/R 162 rs771474147 0.6544 None gnomAD-4.0.0 7.72758E-06
9283 79 V/M 163 rs727504515 0.3582 None gnomAD-2.1.1 1.66155E-04
9283 79 V/M 163 rs727504515 0.3582 None gnomAD-3.1.2 6.57E-05
9283 79 V/M 163 rs727504515 0.3582 None gnomAD-4.0.0 8.32842E-05
9284 80 G/E 164 rs770920718 0.2268 None gnomAD-2.1.1 4.06E-06
9284 80 G/E 164 rs770920718 0.2268 None gnomAD-3.1.2 6.57E-06
9284 80 G/R 164 rs2076727185 0.2268 None gnomAD-3.1.2 6.57E-06
9284 80 G/R 164 rs2076727185 0.2268 None gnomAD-4.0.0 2.02986E-06
9284 80 G/V 164 rs770920718 0.2268 None gnomAD-2.1.1 4.06E-06
9284 80 G/V 164 rs770920718 0.2268 None gnomAD-4.0.0 4.81369E-06
9285 81 E/A 165 rs1560573999 0.6634 None gnomAD-2.1.1 3.18E-05
9285 81 E/A 165 rs1560573999 0.6634 None gnomAD-3.1.2 6.57E-06
9285 81 E/A 165 rs1560573999 0.6634 None gnomAD-4.0.0 6.5722E-06
9285 81 E/K 165 None 0.6634 None gnomAD-4.0.0 1.60823E-06
9286 82 V/A 166 rs769642697 0.2178 None gnomAD-2.1.1 4.09E-06
9286 82 V/A 166 rs769642697 0.2178 None gnomAD-4.0.0 2.06466E-06
9286 82 V/D 166 rs769642697 0.2178 None gnomAD-4.0.0 1.37644E-06
9286 82 V/F 166 rs777547707 0.2178 None gnomAD-2.1.1 2.45E-05
9286 82 V/F 166 rs777547707 0.2178 None gnomAD-3.1.2 3.29E-05
9286 82 V/F 166 rs777547707 0.2178 None gnomAD-4.0.0 7.72553E-05
9286 82 V/I 166 None 0.2178 None gnomAD-4.0.0 6.88289E-07
9286 82 V/L 166 rs777547707 0.2178 None gnomAD-4.0.0 6.88289E-07
9288 84 A/P 169 None 0.1810 None gnomAD-4.0.0 1.61923E-06
9289 85 S/P 171 rs2076724301 0.3497 None gnomAD-4.0.0 8.09961E-06
9290 86 T/A 172 rs1256283190 0.1408 None gnomAD-4.0.0 1.62297E-06
9290 86 T/S 172 rs1196673354 0.1408 None gnomAD-2.1.1 4.14E-06
9290 86 T/S 172 rs1196673354 0.1408 None gnomAD-4.0.0 1.62302E-06
9291 87 F/S 173 rs754982924 0.5056 None gnomAD-2.1.1 1.25E-05
9291 87 F/S 173 rs754982924 0.5056 None gnomAD-3.1.2 6.57E-06
9291 87 F/S 173 rs754982924 0.5056 None gnomAD-4.0.0 1.04382E-05
9292 88 L/F 174 None 0.4911 None gnomAD-4.0.0 1.62989E-06
9293 89 T/I 175 None 0.5360 None gnomAD-4.0.0 6.92585E-07
9293 89 T/N 175 rs2076722601 0.5360 None gnomAD-3.1.2 6.57E-06
9293 89 T/N 175 rs2076722601 0.5360 None gnomAD-4.0.0 6.57056E-06
9293 89 T/S 175 None 0.5360 None gnomAD-4.0.0 6.92584E-07
9294 90 V/F 177 None 0.9741 None gnomAD-4.0.0 2.08206E-06
9294 90 V/I 177 rs368775401 0.9741 None gnomAD-2.1.1 8.49E-06
9294 90 V/I 177 rs368775401 0.9741 None gnomAD-4.0.0 6.24617E-06