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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
23141 3 G/A 3 None 0.2084 None gnomAD-4.0.0 6.8747E-07
23141 3 G/C 3 None 0.2084 None gnomAD-4.0.0 1.37462E-06
23141 3 G/D 3 None 0.2084 None gnomAD-4.0.0 6.8747E-07
23141 3 G/R 3 rs1291311240 0.2084 None gnomAD-4.0.0 3.43654E-06
23142 4 P/L 4 rs2288572 0.4090 None gnomAD-2.1.1 4.12E-06
23142 4 P/L 4 rs2288572 0.4090 None gnomAD-3.1.2 6.58E-06
23142 4 P/L 4 rs2288572 0.4090 None 1000 genomes 1.99681E-04
23142 4 P/L 4 rs2288572 0.4090 None gnomAD-4.0.0 6.5716E-06
23142 4 P/S 4 None 0.4090 None gnomAD-4.0.0 1.60543E-06
23143 5 P/L 5 rs1371049844 0.1181 None gnomAD-2.1.1 8.11E-06
23143 5 P/L 5 rs1371049844 0.1181 None gnomAD-3.1.2 6.58E-06
23143 5 P/L 5 rs1371049844 0.1181 None gnomAD-4.0.0 1.02744E-05
23146 8 P/L 9 rs1203533684 0.1236 None gnomAD-3.1.2 1.97E-05
23146 8 P/L 9 rs1203533684 0.1236 None gnomAD-4.0.0 2.23244E-05
23146 8 P/R 9 None 0.1236 None gnomAD-4.0.0 6.84632E-07
23147 9 E/D 11 rs1173953424 0.7769 None gnomAD-2.1.1 4.04E-06
23147 9 E/D 11 rs1173953424 0.7769 None gnomAD-4.0.0 1.59336E-06
23147 9 E/G 11 rs1396597790 0.7769 None gnomAD-2.1.1 4.05E-06
23147 9 E/G 11 rs1396597790 0.7769 None gnomAD-4.0.0 1.59349E-06
23148 10 V/I 12 rs777891798 0.2855 None gnomAD-2.1.1 4.04E-06
23148 10 V/I 12 rs777891798 0.2855 None gnomAD-4.0.0 1.5932E-06
23149 11 S/L 13 rs1559465254 0.3224 None gnomAD-2.1.1 4.04E-06
23149 11 S/L 13 rs1559465254 0.3224 None gnomAD-4.0.0 1.59269E-06
23151 13 V/A 15 rs769864550 0.2096 None gnomAD-2.1.1 4.04E-06
23151 13 V/I 15 rs1230729325 0.2096 None gnomAD-2.1.1 8.07E-06
23151 13 V/I 15 rs1230729325 0.2096 None gnomAD-4.0.0 3.1851E-06
23153 15 K/R 17 None 0.4082 None gnomAD-4.0.0 6.84355E-07
23153 15 K/T 17 rs879119970 0.4082 None gnomAD-2.1.1 2.15E-05
23153 15 K/T 17 rs879119970 0.4082 None gnomAD-3.1.2 1.32E-05
23153 15 K/T 17 rs879119970 0.4082 None gnomAD-4.0.0 1.98351E-05
23154 16 N/D 18 rs1486007034 0.4153 None gnomAD-3.1.2 6.58E-06
23154 16 N/D 18 rs1486007034 0.4153 None gnomAD-4.0.0 2.03012E-06
23154 16 N/I 18 None 0.4153 None gnomAD-4.0.0 1.592E-06
23155 17 T/I 19 None 0.1579 None gnomAD-4.0.0 6.84347E-07
23155 17 T/S 19 rs761306433 0.1579 None gnomAD-2.1.1 4.03E-06
23155 17 T/S 19 rs761306433 0.1579 None gnomAD-4.0.0 1.71087E-05
23156 18 A/V 20 rs748627799 0.0861 None gnomAD-2.1.1 4.03E-06
23157 19 T/A 21 rs1362003473 0.1752 None gnomAD-3.1.2 6.58E-06
23157 19 T/A 21 rs1362003473 0.1752 None gnomAD-4.0.0 6.57514E-06
23158 20 V/I 22 None 0.0803 None gnomAD-4.0.0 1.36867E-06
23158 20 V/L 22 rs781570281 0.0803 None gnomAD-2.1.1 4.03E-06
23158 20 V/L 22 rs781570281 0.0803 None gnomAD-4.0.0 1.36867E-06
23159 21 S/G 23 rs1473805330 0.2256 None gnomAD-3.1.2 6.58E-06
23159 21 S/G 23 rs1473805330 0.2256 None gnomAD-4.0.0 6.08947E-06
23159 21 S/I 23 None 0.2256 None gnomAD-4.0.0 1.20033E-06
23159 21 S/R 23 None 0.2256 None gnomAD-4.0.0 1.59193E-06
23160 22 W/C 24 rs1428157842 0.1040 None gnomAD-2.1.1 3.19E-05
23160 22 W/C 24 rs1428157842 0.1040 None gnomAD-3.1.2 6.58E-06
23160 22 W/C 24 rs1428157842 0.1040 None gnomAD-4.0.0 6.57748E-06
23160 22 W/R 24 None 0.1040 None gnomAD-4.0.0 1.20032E-06
23164 26 V/A 28 None 1.1304 None gnomAD-4.0.0 1.59184E-06
23164 26 V/L 28 rs755341733 1.1304 None gnomAD-2.1.1 1.21E-05
23164 26 V/L 28 rs755341733 1.1304 None gnomAD-4.0.0 2.05292E-06
23164 26 V/M 28 rs755341733 1.1304 None gnomAD-2.1.1 4.03E-06
23164 26 V/M 28 rs755341733 1.1304 None gnomAD-4.0.0 2.73723E-06
23165 27 D/E 29 rs757041441 0.6082 None gnomAD-2.1.1 4.03E-06
23165 27 D/E 29 rs757041441 0.6082 None gnomAD-4.0.0 1.59178E-06
23165 27 D/H 29 rs778699055 0.6082 None gnomAD-2.1.1 4.03E-06
23165 27 D/H 29 rs778699055 0.6082 None gnomAD-4.0.0 3.42153E-06
23165 27 D/N 29 None 0.6082 None gnomAD-4.0.0 6.84306E-07
23166 28 D/V 30 None 0.3705 None gnomAD-4.0.0 1.20032E-06
23167 29 G/D 31 None 0.3329 None gnomAD-4.0.0 6.84294E-07
23167 29 G/S 31 rs1412783912 0.3329 None gnomAD-2.1.1 4.03E-06
23167 29 G/S 31 rs1412783912 0.3329 None gnomAD-4.0.0 1.59175E-06
23167 29 G/V 31 None 0.3329 None gnomAD-4.0.0 6.84294E-07
23168 30 G/D 32 None 0.6308 None gnomAD-4.0.0 1.20032E-06
23169 31 S/I 33 rs879245080 0.1979 None gnomAD-4.0.0 4.79005E-06
23169 31 S/N 33 None 0.1979 None gnomAD-4.0.0 1.36859E-06
23169 31 S/R 33 None 0.1979 None gnomAD-4.0.0 6.84303E-07
23170 32 E/D 34 rs760127657 0.6573 None gnomAD-2.1.1 8.05E-06
23170 32 E/D 34 rs760127657 0.6573 None gnomAD-4.0.0 1.09485E-05
23170 32 E/K 34 rs1334543067 0.6573 None gnomAD-2.1.1 1.43E-05
23170 32 E/K 34 rs1334543067 0.6573 None gnomAD-3.1.2 1.32E-05
23170 32 E/K 34 rs1334543067 0.6573 None gnomAD-4.0.0 1.15348E-05
23172 34 T/A 36 None 0.3711 None gnomAD-4.0.0 1.59167E-06
23172 34 T/I 36 rs752643010 0.3711 None gnomAD-2.1.1 8.05E-06
23172 34 T/I 36 rs752643010 0.3711 None gnomAD-3.1.2 6.58E-06
23172 34 T/I 36 rs752643010 0.3711 None gnomAD-4.0.0 9.91731E-06
23172 34 T/K 36 rs752643010 0.3711 None gnomAD-2.1.1 2.41E-05
23172 34 T/K 36 rs752643010 0.3711 None gnomAD-4.0.0 2.05287E-05
23173 35 G/R 37 rs773592810 0.0943 None gnomAD-2.1.1 1.79E-05
23173 35 G/R 37 rs773592810 0.0943 None gnomAD-3.1.2 1.97E-05
23173 35 G/R 37 rs773592810 0.0943 None gnomAD-4.0.0 2.66522E-05
23174 36 Y/C 38 rs759352559 0.0826 None gnomAD-2.1.1 4.02E-06
23174 36 Y/C 38 rs759352559 0.0826 None gnomAD-4.0.0 1.59168E-06
23174 36 Y/D 38 rs1472641158 0.0826 None gnomAD-2.1.1 4.02E-06
23174 36 Y/D 38 rs1472641158 0.0826 None gnomAD-4.0.0 6.84288E-07
23174 36 Y/H 38 None 0.0826 None gnomAD-4.0.0 1.36858E-06
23174 36 Y/N 38 None 0.0826 None gnomAD-4.0.0 2.73715E-06
23175 37 H/N 39 None 0.1781 None gnomAD-4.0.0 1.59167E-06
23175 37 H/P 39 None 0.1781 None gnomAD-4.0.0 1.36878E-06
23175 37 H/R 39 rs1186507360 0.1781 None gnomAD-2.1.1 4.02E-06
23175 37 H/R 39 rs1186507360 0.1781 None gnomAD-4.0.0 1.36873E-06
23176 38 V/A 40 rs1258714685 0.1149 None gnomAD-2.1.1 4.02E-06
23176 38 V/A 40 rs1258714685 0.1149 None gnomAD-4.0.0 6.15864E-06
23176 38 V/E 40 rs1258714685 0.1149 None gnomAD-2.1.1 4.02E-06
23176 38 V/E 40 rs1258714685 0.1149 None gnomAD-4.0.0 6.84293E-07
23176 38 V/I 40 rs1413591624 0.1149 None gnomAD-3.1.2 6.58E-06
23176 38 V/I 40 rs1413591624 0.1149 None gnomAD-4.0.0 3.84456E-06
23178 40 R/M 42 rs376978126 0.3105 None gnomAD-2.1.1 2.14E-05
23178 40 R/M 42 rs376978126 0.3105 None gnomAD-3.1.2 5.26E-05
23178 40 R/M 42 rs376978126 0.3105 None gnomAD-4.0.0 2.23133E-05
23178 40 R/S 42 None 0.3105 None gnomAD-4.0.0 6.84274E-07
23178 40 R/T 42 None 0.3105 None gnomAD-4.0.0 6.84276E-07
23178 40 R/W 42 None 0.3105 None gnomAD-4.0.0 1.59161E-06
23179 41 R/G 43 None 0.2343 None gnomAD-4.0.0 1.20032E-06
23179 41 R/K 43 None 0.2343 None gnomAD-4.0.0 2.73712E-06
23179 41 R/T 43 rs763091757 0.2343 None gnomAD-2.1.1 8.04E-06
23179 41 R/T 43 rs763091757 0.2343 None gnomAD-4.0.0 2.73712E-06
23181 43 K/E 50 None 0.6351 None gnomAD-4.0.0 1.20032E-06
23182 44 K/E 54 None 1.0529 None gnomAD-4.0.0 3.60097E-06
23182 44 K/Q 54 rs1383372565 1.0529 None gnomAD-2.1.1 3.19E-05
23182 44 K/Q 54 rs1383372565 1.0529 None gnomAD-3.1.2 6.58E-06
23182 44 K/Q 54 rs1383372565 1.0529 None gnomAD-4.0.0 6.57748E-06
23182 44 K/R 54 rs773432437 1.0529 None gnomAD-2.1.1 8.04E-06
23182 44 K/R 54 rs773432437 1.0529 None gnomAD-3.1.2 6.58E-06
23182 44 K/R 54 rs773432437 1.0529 None gnomAD-4.0.0 2.35522E-05
23184 46 L/P 63 rs1334258779 1.1813 None gnomAD-2.1.1 4.02E-06
23184 46 L/P 63 rs1334258779 1.1813 None gnomAD-4.0.0 3.18326E-06
23185 47 R/Q 64 rs201448988 0.7547 None gnomAD-2.1.1 5.63E-05
23185 47 R/Q 64 rs201448988 0.7547 None gnomAD-3.1.2 2.63E-05
23185 47 R/Q 64 rs201448988 0.7547 None 1000 genomes 1.99681E-04
23185 47 R/Q 64 rs201448988 0.7547 None gnomAD-4.0.0 7.80904E-05
23186 48 W/R 65 rs769105013 0.2119 None gnomAD-2.1.1 4.02E-06
23186 48 W/R 65 rs769105013 0.2119 None gnomAD-3.1.2 6.58E-06
23186 48 W/R 65 rs769105013 0.2119 None gnomAD-4.0.0 3.84472E-06
23188 50 R/K 67 None 0.3096 None gnomAD-4.0.0 2.7371E-06
23188 50 R/T 67 None 0.3096 None gnomAD-4.0.0 1.36855E-06
23189 51 A/P 68 rs747399870 0.1924 None gnomAD-2.1.1 4.02E-06
23189 51 A/P 68 rs747399870 0.1924 None gnomAD-4.0.0 1.36855E-06
23189 51 A/T 68 None 0.1924 None gnomAD-4.0.0 6.84274E-07
23190 52 I/M 69 None 0.3100 None gnomAD-4.0.0 1.20032E-06
23190 52 I/V 69 rs762698812 0.3100 None gnomAD-4.0.0 3.18321E-06
23191 53 K/R 70 None 1.0374 None gnomAD-4.0.0 9.57988E-06
23192 54 T/A 72 rs1343160471 0.6595 None gnomAD-2.1.1 4.02E-06
23192 54 T/A 72 rs1343160471 0.6595 None gnomAD-4.0.0 1.59164E-06
23192 54 T/I 72 rs1319888327 0.6595 None gnomAD-2.1.1 8.04E-06
23192 54 T/I 72 rs1319888327 0.6595 None gnomAD-3.1.2 1.32E-05
23192 54 T/I 72 rs1319888327 0.6595 None gnomAD-4.0.0 7.68923E-06
23192 54 T/S 72 rs1343160471 0.6595 None gnomAD-4.0.0 3.18327E-06
23193 55 P/L 75 None 0.3882 None gnomAD-4.0.0 1.5916E-06
23194 56 V/I 77 rs2046501912 0.1388 None gnomAD-3.1.2 6.58E-06
23194 56 V/I 77 rs2046501912 0.1388 None gnomAD-4.0.0 2.10732E-05
23196 58 D/E 88 None 0.6011 None gnomAD-4.0.0 1.59161E-06
23196 58 D/N 88 rs1162141375 0.6011 None gnomAD-2.1.1 8.04E-06
23196 58 D/N 88 rs1162141375 0.6011 None gnomAD-3.1.2 6.58E-06
23196 58 D/N 88 rs1162141375 0.6011 None gnomAD-4.0.0 6.81733E-06
23197 59 L/F 89 rs2046500337 0.2006 None gnomAD-4.0.0 3.60097E-06
23199 61 C/R 91 rs943321083 0.1082 None gnomAD-2.1.1 4.02E-06
23199 61 C/R 91 rs943321083 0.1082 None gnomAD-3.1.2 1.32E-05
23199 61 C/R 91 rs943321083 0.1082 None gnomAD-4.0.0 3.04539E-06
23200 62 K/E 92 rs1256094909 0.4744 None gnomAD-3.1.2 6.58E-06
23200 62 K/E 92 rs1256094909 0.4744 None gnomAD-4.0.0 6.57505E-06
23200 62 K/N 92 None 0.4744 None gnomAD-4.0.0 1.59158E-06
23201 63 V/I 93 None 0.1166 None gnomAD-4.0.0 1.36855E-06
23201 63 V/L 93 None 0.1166 None gnomAD-4.0.0 6.84274E-07
23202 64 T/A 94 rs2046496039 0.5221 None gnomAD-3.1.2 6.58E-06
23202 64 T/A 94 rs2046496039 0.5221 None gnomAD-4.0.0 2.03007E-06
23202 64 T/I 94 None 0.5221 None gnomAD-4.0.0 1.59161E-06
23203 65 G/E 96 rs575899662 0.4977 None gnomAD-2.1.1 1.08585E-04
23203 65 G/E 96 rs575899662 0.4977 None gnomAD-3.1.2 2.63E-05
23203 65 G/E 96 rs575899662 0.4977 None 1000 genomes 1.99681E-04
23203 65 G/E 96 rs575899662 0.4977 None gnomAD-4.0.0 5.6397E-05
23206 68 E/Q 99 rs1244129033 0.5431 None gnomAD-2.1.1 8.05E-06
23206 68 E/Q 99 rs1244129033 0.5431 None gnomAD-4.0.0 2.05282E-06
23207 69 G/E 100 None 0.4136 None gnomAD-4.0.0 1.5916E-06
23208 70 S/G 102 rs1559463266 0.1766 None gnomAD-2.1.1 4.02E-06
23208 70 S/G 102 rs1559463266 0.1766 None gnomAD-4.0.0 2.7371E-06
23208 70 S/N 102 None 0.1766 None gnomAD-4.0.0 1.20032E-06
23208 70 S/R 102 None 0.1766 None gnomAD-4.0.0 6.8427E-07
23209 71 T/I 103 rs910182014 0.2820 None gnomAD-4.0.0 6.84284E-07
23209 71 T/P 103 None 0.2820 None gnomAD-4.0.0 1.59163E-06
23209 71 T/S 103 rs910182014 0.2820 None gnomAD-2.1.1 4.02E-06
23209 71 T/S 103 rs910182014 0.2820 None gnomAD-4.0.0 1.36857E-06
23211 73 E/K 105 rs1215669622 0.2016 None gnomAD-2.1.1 4.03E-06
23211 73 E/K 105 rs1215669622 0.2016 None gnomAD-4.0.0 9.58008E-06
23211 73 E/Q 105 rs1215669622 0.2016 None gnomAD-4.0.0 6.84291E-07
23213 75 R/C 107 rs1335495074 0.1684 None gnomAD-2.1.1 8.05E-06
23213 75 R/C 107 rs1335495074 0.1684 None gnomAD-3.1.2 1.32E-05
23213 75 R/C 107 rs1335495074 0.1684 None gnomAD-4.0.0 9.91679E-06
23213 75 R/H 107 rs374883884 0.1684 None gnomAD-2.1.1 7.86E-05
23213 75 R/H 107 rs374883884 0.1684 None gnomAD-3.1.2 8.55E-05
23213 75 R/H 107 rs374883884 0.1684 None gnomAD-4.0.0 2.6029E-05
23213 75 R/P 107 rs374883884 0.1684 None gnomAD-2.1.1 4.03E-06
23213 75 R/P 107 rs374883884 0.1684 None gnomAD-3.1.2 6.57E-06
23213 75 R/P 107 rs374883884 0.1684 None gnomAD-4.0.0 1.85935E-06
23213 75 R/S 107 rs1335495074 0.1684 None gnomAD-2.1.1 3.19E-05
23213 75 R/S 107 rs1335495074 0.1684 None gnomAD-3.1.2 6.58E-06
23213 75 R/S 107 rs1335495074 0.1684 None gnomAD-4.0.0 6.5767E-06
23214 76 V/I 108 rs1213856899 0.0681 None gnomAD-2.1.1 4.03E-06
23214 76 V/I 108 rs1213856899 0.0681 None gnomAD-4.0.0 1.20032E-05
23215 77 S/N 109 rs752195064 0.1372 None gnomAD-2.1.1 1.21E-05
23215 77 S/N 109 rs752195064 0.1372 None gnomAD-3.1.2 6.57E-06
23215 77 S/N 109 rs752195064 0.1372 None gnomAD-4.0.0 1.28139E-05
23216 78 A/T 110 rs1271698447 0.0818 None gnomAD-2.1.1 4.03E-06
23216 78 A/T 110 rs1271698447 0.0818 None gnomAD-4.0.0 1.5917E-06
23217 79 E/A 111 rs72646884 0.2038 None gnomAD-2.1.1 4.03E-06
23217 79 E/A 111 rs72646884 0.2038 None gnomAD-4.0.0 6.84278E-06
23217 79 E/K 111 rs767473022 0.2038 None gnomAD-2.1.1 4.03E-06
23217 79 E/K 111 rs767473022 0.2038 None gnomAD-4.0.0 1.59168E-06
23222 84 I/L 117 None 0.3887 None gnomAD-4.0.0 4.79004E-06
23222 84 I/T 117 rs1223761195 0.3887 None gnomAD-2.1.1 3.19E-05
23222 84 I/T 117 rs1223761195 0.3887 None gnomAD-3.1.2 6.57E-06
23222 84 I/T 117 rs1223761195 0.3887 None gnomAD-4.0.0 6.57462E-06
23222 84 I/V 117 rs766103673 0.3887 None gnomAD-2.1.1 4.03E-06
23223 85 G/C 118 None 0.2020 None gnomAD-4.0.0 2.0529E-06
23224 86 P/L 119 rs762758398 0.3915 None gnomAD-2.1.1 8.06E-06
23224 86 P/L 119 rs762758398 0.3915 None gnomAD-3.1.2 6.57E-06
23224 86 P/L 119 rs762758398 0.3915 None gnomAD-4.0.0 3.0989E-06
23225 87 P/S 120 None 0.3685 None gnomAD-4.0.0 2.40064E-06
23226 88 S/G 121 rs72646885 0.1099 None gnomAD-2.1.1 7.21678E-03
23226 88 S/G 121 rs72646885 0.1099 None gnomAD-3.1.2 5.76458E-03
23226 88 S/G 121 rs72646885 0.1099 None 1000 genomes 2.99521E-03
23226 88 S/G 121 rs72646885 0.1099 None gnomAD-4.0.0 7.02526E-03
23226 88 S/N 121 None 0.1099 None gnomAD-4.0.0 1.20032E-06
23227 89 E/K 122 rs765429292 0.6807 None gnomAD-2.1.1 4.03E-06
23227 89 E/K 122 rs765429292 0.6807 None gnomAD-4.0.0 1.3686E-06
23227 89 E/Q 122 rs765429292 0.6807 None gnomAD-3.1.2 6.57E-06
23227 89 E/Q 122 rs765429292 0.6807 None gnomAD-4.0.0 1.85934E-06
23228 90 A/S 123 None 0.2250 None gnomAD-4.0.0 1.20032E-06
23231 93 S/C 126 rs776642838 0.4434 None gnomAD-2.1.1 4.03E-06
23231 93 S/C 126 rs776642838 0.4434 None gnomAD-4.0.0 4.10611E-06
23231 93 S/F 126 rs776642838 0.4434 None gnomAD-2.1.1 1.21E-05
23231 93 S/F 126 rs776642838 0.4434 None gnomAD-4.0.0 1.3687E-06
23232 94 V/A 127 rs1575819357 0.2046 None gnomAD-4.0.0 3.18409E-06
23232 94 V/L 127 rs1195674859 0.2046 None gnomAD-2.1.1 4.03E-06
23232 94 V/L 127 rs1195674859 0.2046 None gnomAD-3.1.2 1.31E-05
23232 94 V/L 127 rs1195674859 0.2046 None gnomAD-4.0.0 5.57866E-06
23234 96 M/K 130 None 0.0621 None gnomAD-4.0.0 1.20032E-06
23234 96 M/L 130 None 0.0621 None gnomAD-4.0.0 1.59263E-06
23234 96 M/T 130 rs1002453249 0.0621 None gnomAD-3.1.2 6.57E-06
23234 96 M/T 130 rs1002453249 0.0621 None gnomAD-4.0.0 4.05988E-06
23236 98 D/G 132 None 0.5311 None gnomAD-4.0.0 1.20032E-06