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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
35129 1 A/G 1 rs1688988300 0.1826 None gnomAD-4.0.0 2.73655E-06
35130 2 R/K 2 None 0.6861 None gnomAD-4.0.0 2.40064E-06
35131 3 I/N 3 None 0.1471 None gnomAD-4.0.0 1.20032E-06
35131 3 I/V 3 rs779464128 0.1471 None gnomAD-2.1.1 2.01E-05
35131 3 I/V 3 rs779464128 0.1471 None gnomAD-3.1.2 6.57E-06
35131 3 I/V 3 rs779464128 0.1471 None gnomAD-4.0.0 3.46993E-05
35132 4 L/V 4 None 0.4958 None gnomAD-4.0.0 6.8414E-07
35133 5 T/A 5 rs1391236798 0.3824 None gnomAD-3.1.2 6.57E-06
35133 5 T/A 5 rs1391236798 0.3824 None gnomAD-4.0.0 6.57117E-06
35133 5 T/P 5 rs1391236798 0.3824 None gnomAD-2.1.1 4.01E-06
35133 5 T/P 5 rs1391236798 0.3824 None gnomAD-3.1.2 6.57E-06
35133 5 T/P 5 rs1391236798 0.3824 None gnomAD-4.0.0 3.09814E-06
35134 6 K/M 7 rs1394892060 0.5989 None gnomAD-2.1.1 1.07E-05
35134 6 K/M 7 rs1394892060 0.5989 None gnomAD-3.1.2 1.31E-05
35134 6 K/M 7 rs1394892060 0.5989 None gnomAD-4.0.0 3.8425E-06
35134 6 K/T 7 None 0.5989 None gnomAD-4.0.0 1.59088E-06
35135 7 P/L 8 rs1575228534 0.1716 None gnomAD-4.0.0 1.59089E-06
35136 8 R/G 9 rs372875128 0.8131 None gnomAD-2.1.1 1.43E-05
35136 8 R/G 9 rs372875128 0.8131 None gnomAD-3.1.2 3.29E-05
35136 8 R/G 9 rs372875128 0.8131 None gnomAD-4.0.0 3.71781E-06
35136 8 R/Q 9 rs554213990 0.8131 None gnomAD-2.1.1 1.61E-05
35136 8 R/Q 9 rs554213990 0.8131 None gnomAD-3.1.2 1.97E-05
35136 8 R/Q 9 rs554213990 0.8131 None 1000 genomes 1.99681E-04
35136 8 R/Q 9 rs554213990 0.8131 None gnomAD-4.0.0 1.92081E-05
35136 8 R/W 9 rs372875128 0.8131 None gnomAD-2.1.1 4.99E-05
35136 8 R/W 9 rs372875128 0.8131 None gnomAD-3.1.2 1.97E-05
35136 8 R/W 9 rs372875128 0.8131 None gnomAD-4.0.0 4.27548E-05
35137 9 S/C 11 rs1427963030 0.3259 None gnomAD-2.1.1 4.01E-06
35137 9 S/C 11 rs1427963030 0.3259 None gnomAD-3.1.2 6.57E-06
35137 9 S/C 11 rs1427963030 0.3259 None gnomAD-4.0.0 3.84244E-06
35137 9 S/P 11 rs2154133339 0.3259 None gnomAD-3.1.2 6.58E-06
35137 9 S/P 11 rs2154133339 0.3259 None gnomAD-4.0.0 2.56149E-06
35138 10 M/T 13 rs771741670 0.2443 None gnomAD-2.1.1 2.5E-05
35138 10 M/T 13 rs771741670 0.2443 None gnomAD-3.1.2 4.6E-05
35138 10 M/T 13 rs771741670 0.2443 None gnomAD-4.0.0 7.00186E-05
35138 10 M/V 13 rs368992068 0.2443 None gnomAD-2.1.1 1.2E-05
35138 10 M/V 13 rs368992068 0.2443 None gnomAD-3.1.2 1.31E-05
35138 10 M/V 13 rs368992068 0.2443 None gnomAD-4.0.0 9.91398E-06
35139 11 T/I 14 rs200782068 0.4841 None gnomAD-2.1.1 4.28E-05
35139 11 T/I 14 rs200782068 0.4841 None gnomAD-3.1.2 7.89E-05
35139 11 T/I 14 rs200782068 0.4841 None gnomAD-4.0.0 4.58525E-05
35139 11 T/N 14 None 0.4841 None gnomAD-4.0.0 6.84135E-07
35140 12 V/F 16 None 0.1684 None gnomAD-4.0.0 6.84137E-07
35140 12 V/I 16 rs371893623 0.1684 None gnomAD-2.1.1 3.21E-05
35140 12 V/I 16 rs371893623 0.1684 None gnomAD-3.1.2 5.91E-05
35140 12 V/I 16 rs371893623 0.1684 None gnomAD-4.0.0 4.52332E-05
35141 13 Y/C 18 None 0.5988 None gnomAD-4.0.0 1.20032E-06
35142 14 E/K 23 rs765274398 0.5481 None gnomAD-2.1.1 3.21E-05
35142 14 E/K 23 rs765274398 0.5481 None gnomAD-3.1.2 4.6E-05
35142 14 E/K 23 rs765274398 0.5481 None gnomAD-4.0.0 2.41656E-05
35143 15 G/S 24 rs1441874026 0.3496 None gnomAD-3.1.2 6.57E-06
35143 15 G/S 24 rs1441874026 0.3496 None gnomAD-4.0.0 6.57194E-06
35144 16 E/K 25 rs568472002 0.3055 None gnomAD-2.1.1 5.7E-05
35144 16 E/K 25 rs568472002 0.3055 None gnomAD-3.1.2 1.97E-05
35144 16 E/K 25 rs568472002 0.3055 None 1000 genomes 1.99681E-04
35144 16 E/K 25 rs568472002 0.3055 None gnomAD-4.0.0 3.03598E-05
35145 17 S/T 26 rs768379481 0.4508 None gnomAD-2.1.1 4.01E-06
35145 17 S/T 26 rs768379481 0.4508 None gnomAD-4.0.0 1.59087E-06
35146 18 A/P 28 rs746800387 0.1389 None gnomAD-2.1.1 3.19E-05
35146 18 A/P 28 rs746800387 0.1389 None gnomAD-3.1.2 6.57E-06
35146 18 A/P 28 rs746800387 0.1389 None gnomAD-4.0.0 6.56978E-06
35146 18 A/T 28 rs746800387 0.1389 None gnomAD-2.1.1 4.01E-06
35146 18 A/T 28 rs746800387 0.1389 None gnomAD-4.0.0 1.59087E-06
35147 19 R/S 29 None 0.5045 None gnomAD-4.0.0 6.84137E-07
35150 22 C/S 33 None 0.0956 None gnomAD-4.0.0 2.40064E-06
35150 22 C/Y 33 rs554953169 0.0956 None gnomAD-2.1.1 3.61E-05
35150 22 C/Y 33 rs554953169 0.0956 None gnomAD-3.1.2 3.29E-05
35150 22 C/Y 33 rs554953169 0.0956 None 1000 genomes 1.99681E-04
35150 22 C/Y 33 rs554953169 0.0956 None gnomAD-4.0.0 3.65547E-05
35152 24 T/I 35 None 0.1456 None gnomAD-4.0.0 1.20032E-06
35152 24 T/N 35 None 0.1456 None gnomAD-4.0.0 1.20032E-06
35152 24 T/P 35 rs772336949 0.1456 None gnomAD-2.1.1 1.2E-05
35152 24 T/P 35 rs772336949 0.1456 None gnomAD-4.0.0 4.10482E-06
35153 25 D/N 38 rs778907927 0.4804 None gnomAD-2.1.1 1.78E-05
35153 25 D/N 38 rs778907927 0.4804 None gnomAD-3.1.2 6.57E-06
35153 25 D/N 38 rs778907927 0.4804 None gnomAD-4.0.0 6.81589E-06
35154 26 G/C 40 rs1448128592 0.2011 None gnomAD-2.1.1 4.01E-06
35154 26 G/C 40 rs1448128592 0.2011 None gnomAD-4.0.0 1.59087E-06
35155 27 E/K 41 rs748014260 0.7939 None gnomAD-2.1.1 8.03E-06
35155 27 E/K 41 rs748014260 0.7939 None gnomAD-4.0.0 6.84135E-06
35156 28 P/L 42 rs538363206 0.4166 None gnomAD-2.1.1 1.61E-05
35156 28 P/L 42 rs538363206 0.4166 None gnomAD-4.0.0 9.5779E-06
35156 28 P/R 42 rs538363206 0.4166 None gnomAD-2.1.1 1.61E-05
35156 28 P/R 42 rs538363206 0.4166 None gnomAD-3.1.2 1.31E-05
35156 28 P/R 42 rs538363206 0.4166 None 1000 genomes 1.99681E-04
35156 28 P/R 42 rs538363206 0.4166 None gnomAD-4.0.0 4.33723E-06
35158 30 P/A 44 rs758006957 0.1612 None gnomAD-2.1.1 4.01E-06
35158 30 P/A 44 rs758006957 0.1612 None gnomAD-4.0.0 7.52548E-06
35158 30 P/Q 44 rs749980197 0.1612 None gnomAD-2.1.1 4.01E-06
35158 30 P/Q 44 rs749980197 0.1612 None gnomAD-4.0.0 1.59087E-06
35158 30 P/T 44 rs758006957 0.1612 None gnomAD-2.1.1 4.01E-06
35158 30 P/T 44 rs758006957 0.1612 None gnomAD-4.0.0 6.84135E-07
35159 31 T/N 45 rs1468368780 0.6550 None gnomAD-2.1.1 4.01E-06
35159 31 T/N 45 rs1468368780 0.6550 None gnomAD-4.0.0 1.59087E-06
35161 33 T/A 47 rs764804165 0.4063 None gnomAD-2.1.1 4.01E-06
35161 33 T/A 47 rs764804165 0.4063 None gnomAD-4.0.0 2.40064E-06
35161 33 T/N 47 rs372263729 0.4063 None gnomAD-2.1.1 4.63E-05
35161 33 T/N 47 rs372263729 0.4063 None gnomAD-3.1.2 1.70913E-04
35161 33 T/N 47 rs372263729 0.4063 None gnomAD-4.0.0 3.22217E-05
35161 33 T/S 47 rs764804165 0.4063 None gnomAD-3.1.2 6.57E-06
35161 33 T/S 47 rs764804165 0.4063 None gnomAD-4.0.0 6.84137E-07
35162 34 W/R 48 None 0.1216 None gnomAD-4.0.0 3.18174E-06
35162 34 W/S 48 rs886042795 0.1216 None gnomAD-2.1.1 4.01E-06
35162 34 W/S 48 rs886042795 0.1216 None gnomAD-3.1.2 6.57E-06
35162 34 W/S 48 rs886042795 0.1216 None gnomAD-4.0.0 6.57307E-06
35164 36 R/C 50 rs200123047 0.1810 None gnomAD-2.1.1 5.35E-05
35164 36 R/C 50 rs200123047 0.1810 None gnomAD-3.1.2 6.57E-05
35164 36 R/C 50 rs200123047 0.1810 None 1000 genomes 1.99681E-04
35164 36 R/C 50 rs200123047 0.1810 None gnomAD-4.0.0 5.39054E-05
35164 36 R/H 50 rs768358201 0.1810 None gnomAD-2.1.1 3.21E-05
35164 36 R/H 50 rs768358201 0.1810 None gnomAD-3.1.2 1.31E-05
35164 36 R/H 50 rs768358201 0.1810 None gnomAD-4.0.0 4.15155E-05
35165 37 K/E 51 rs879156291 0.8423 None gnomAD-3.1.2 6.57E-06
35165 37 K/E 51 rs879156291 0.8423 None gnomAD-4.0.0 2.02984E-06
35165 37 K/T 51 None 0.8423 None gnomAD-4.0.0 1.20032E-06
35166 38 G/V 52 rs1060500538 0.4732 None gnomAD-2.1.1 4.01E-06
35166 38 G/V 52 rs1060500538 0.4732 None gnomAD-4.0.0 1.59087E-06
35167 39 Q/E 55 rs1558994144 0.7893 None gnomAD-2.1.1 4.01E-06
35167 39 Q/E 55 rs1558994144 0.7893 None gnomAD-4.0.0 2.73654E-06
35168 40 V/L 56 rs1382618116 0.5372 None gnomAD-4.0.0 1.59087E-06
35168 40 V/M 56 rs1382618116 0.5372 None gnomAD-2.1.1 8.03E-06
35168 40 V/M 56 rs1382618116 0.5372 None gnomAD-4.0.0 3.18174E-06
35169 41 L/P 58 None 0.2415 None gnomAD-4.0.0 1.20032E-06
35169 41 L/V 58 None 0.2415 None gnomAD-4.0.0 1.36827E-06
35171 43 T/I 70 rs774524898 0.5001 None gnomAD-2.1.1 1.64534E-04
35171 43 T/I 70 rs774524898 0.5001 None gnomAD-3.1.2 7.23E-05
35171 43 T/I 70 rs774524898 0.5001 None gnomAD-4.0.0 1.01619E-04
35172 44 S/F 73 rs749354699 0.3142 None gnomAD-2.1.1 1.78E-05
35172 44 S/F 73 rs749354699 0.3142 None gnomAD-3.1.2 1.97E-05
35172 44 S/F 73 rs749354699 0.3142 None gnomAD-4.0.0 8.97273E-06
35172 44 S/Y 73 rs749354699 0.3142 None gnomAD-2.1.1 4.01E-06
35172 44 S/Y 73 rs749354699 0.3142 None gnomAD-4.0.0 1.59224E-06
35174 46 R/C 115 rs778207634 0.2355 None gnomAD-2.1.1 4.82E-05
35174 46 R/C 115 rs778207634 0.2355 None gnomAD-3.1.2 4.6E-05
35174 46 R/C 115 rs778207634 0.2355 None gnomAD-4.0.0 4.70925E-05
35174 46 R/H 115 rs756575734 0.2355 None gnomAD-2.1.1 2.85E-05
35174 46 R/H 115 rs756575734 0.2355 None gnomAD-3.1.2 5.26E-05
35174 46 R/H 115 rs756575734 0.2355 None gnomAD-4.0.0 7.3738E-05
35175 47 H/Q 121 rs1215297501 0.2946 None gnomAD-4.0.0 3.18173E-06
35175 47 H/Y 121 None 0.2946 None gnomAD-4.0.0 1.59087E-06
35176 48 Q/L 122 None 0.6025 None gnomAD-4.0.0 1.20032E-06
35177 49 V/M 123 rs55865284 0.2397 None gnomAD-2.1.1 3.28591E-03
35177 49 V/M 123 rs55865284 0.2397 None gnomAD-3.1.2 1.00823E-02
35177 49 V/M 123 rs55865284 0.2397 None 1000 genomes 1.05831E-02
35177 49 V/M 123 rs55865284 0.2397 None gnomAD-4.0.0 1.88666E-03
35178 50 T/I 125 rs1185377965 0.5445 None gnomAD-2.1.1 4.01E-06
35178 50 T/I 125 rs1185377965 0.5445 None gnomAD-4.0.0 3.42068E-06
35180 52 T/A 130 rs1473790126 0.4896 None gnomAD-2.1.1 4.01E-06
35180 52 T/A 130 rs1473790126 0.4896 None gnomAD-4.0.0 1.36827E-06
35180 52 T/K 130 rs1575225765 0.4896 None gnomAD-4.0.0 1.20032E-06
35181 53 K/E 131 rs903998878 0.3394 None gnomAD-3.1.2 6.57E-06
35181 53 K/E 131 rs903998878 0.3394 None gnomAD-4.0.0 6.56978E-06
35182 54 Y/C 134 rs878913505 0.3679 None gnomAD-4.0.0 2.73654E-06
35182 54 Y/H 134 rs886042549 0.3679 None gnomAD-4.0.0 1.20032E-06
35183 55 K/E 135 None 0.3260 None gnomAD-4.0.0 1.32035E-05
35184 56 S/A 136 None 0.0978 None gnomAD-4.0.0 1.59085E-06
35185 57 T/A 137 rs1688904998 0.2662 None gnomAD-3.1.2 6.57E-06
35185 57 T/A 137 rs1688904998 0.2662 None gnomAD-4.0.0 3.84275E-06
35185 57 T/I 137 rs781567438 0.2662 None gnomAD-2.1.1 4.01E-06
35185 57 T/I 137 rs781567438 0.2662 None gnomAD-4.0.0 1.36828E-06
35185 57 T/N 137 None 0.2662 None gnomAD-4.0.0 6.84138E-07
35186 58 F/S 138 rs758159045 0.0833 None gnomAD-2.1.1 1.2E-05
35186 58 F/S 138 rs758159045 0.0833 None gnomAD-4.0.0 6.84138E-06
35188 60 I/L 140 rs727504491 0.0876 None gnomAD-2.1.1 2.49E-05
35188 60 I/L 140 rs727504491 0.0876 None gnomAD-3.1.2 2.63E-05
35188 60 I/L 140 rs727504491 0.0876 None gnomAD-4.0.0 2.54028E-05
35188 60 I/M 140 None 0.0876 None gnomAD-4.0.0 1.59089E-06
35188 60 I/T 140 rs764963502 0.0876 None gnomAD-2.1.1 4.01E-06
35188 60 I/T 140 rs764963502 0.0876 None gnomAD-4.0.0 3.18176E-06
35189 61 S/C 141 None 0.4182 None gnomAD-4.0.0 2.40064E-06
35191 63 V/A 144 None 0.1086 None gnomAD-4.0.0 1.20032E-06
35191 63 V/I 144 rs1290162863 0.1086 None gnomAD-2.1.1 7.13E-06
35191 63 V/I 144 rs1290162863 0.1086 None gnomAD-3.1.2 1.31E-05
35191 63 V/I 144 rs1290162863 0.1086 None gnomAD-4.0.0 2.35457E-05
35193 65 A/D 146 rs1380574216 0.4249 None gnomAD-2.1.1 3.18E-05
35193 65 A/D 146 rs1380574216 0.4249 None gnomAD-3.1.2 6.57E-06
35193 65 A/D 146 rs1380574216 0.4249 None gnomAD-4.0.0 6.57237E-06
35193 65 A/S 146 rs763944153 0.4249 None gnomAD-2.1.1 2.5E-05
35193 65 A/S 146 rs763944153 0.4249 None gnomAD-3.1.2 6.58E-06
35193 65 A/S 146 rs763944153 0.4249 None gnomAD-4.0.0 1.40908E-05
35193 65 A/V 146 rs1380574216 0.4249 None gnomAD-2.1.1 4.01E-06
35193 65 A/V 146 rs1380574216 0.4249 None gnomAD-4.0.0 1.5909E-06
35194 66 S/T 148 rs1269069525 0.4377 None gnomAD-2.1.1 4.01E-06
35194 66 S/T 148 rs1269069525 0.4377 None gnomAD-4.0.0 1.59088E-06
35195 67 D/N 149 rs752458663 0.1362 None gnomAD-2.1.1 1.61E-05
35195 67 D/N 149 rs752458663 0.1362 None gnomAD-3.1.2 6.57E-06
35195 67 D/N 149 rs752458663 0.1362 None gnomAD-4.0.0 1.30129E-05
35195 67 D/V 149 None 0.1362 None gnomAD-4.0.0 4.80129E-06
35197 69 G/D 152 rs397517796 0.2442 None gnomAD-2.1.1 6.42E-05
35197 69 G/D 152 rs397517796 0.2442 None gnomAD-3.1.2 2.63E-05
35197 69 G/D 152 rs397517796 0.2442 None gnomAD-4.0.0 4.33766E-05
35198 70 N/D 153 rs1363509929 0.7373 None gnomAD-2.1.1 4.01E-06
35198 70 N/D 153 rs1363509929 0.7373 None gnomAD-4.0.0 1.59089E-06
35198 70 N/K 153 rs1165290743 0.7373 None gnomAD-2.1.1 4.01E-06
35198 70 N/K 153 rs1165290743 0.7373 None gnomAD-4.0.0 6.84141E-07
35198 70 N/S 153 None 0.7373 None gnomAD-4.0.0 1.20032E-06
35199 71 Y/C 154 rs759304538 0.0996 None gnomAD-2.1.1 4.01E-06
35199 71 Y/C 154 rs759304538 0.0996 None gnomAD-4.0.0 1.59093E-06
35199 71 Y/H 154 rs1056456150 0.0996 None gnomAD-3.1.2 6.58E-06
35199 71 Y/H 154 rs1056456150 0.0996 None gnomAD-4.0.0 6.57566E-06
35200 72 S/G 155 None 0.1486 None gnomAD-4.0.0 1.20032E-06
35200 72 S/T 155 None 0.1486 None gnomAD-4.0.0 1.59094E-06
35201 73 V/A 156 None 0.0884 None gnomAD-4.0.0 6.84141E-07
35201 73 V/E 156 rs1411169716 0.0884 None gnomAD-2.1.1 3.19E-05
35201 73 V/E 156 rs1411169716 0.0884 None gnomAD-3.1.2 6.58E-06
35201 73 V/E 156 rs1411169716 0.0884 None gnomAD-4.0.0 1.23942E-06
35201 73 V/M 156 rs397517797 0.0884 None gnomAD-2.1.1 6.42E-05
35201 73 V/M 156 rs397517797 0.0884 None gnomAD-3.1.2 6.57E-06
35201 73 V/M 156 rs397517797 0.0884 None gnomAD-4.0.0 2.10683E-05
35202 74 V/M 157 None 0.1697 None gnomAD-4.0.0 1.20032E-06
35203 75 V/A 158 rs771136390 0.1045 None gnomAD-2.1.1 4.28E-05
35203 75 V/A 158 rs771136390 0.1045 None gnomAD-3.1.2 4.61E-05
35203 75 V/A 158 rs771136390 0.1045 None gnomAD-4.0.0 6.50725E-05
35204 76 E/D 159 rs1474470920 0.3517 None gnomAD-2.1.1 4.01E-06
35204 76 E/D 159 rs1474470920 0.3517 None gnomAD-4.0.0 1.59088E-06
35204 76 E/Q 159 None 0.3517 None gnomAD-4.0.0 1.59092E-06
35208 80 G/R 164 rs1688870986 0.2907 None gnomAD-4.0.0 1.59093E-06
35209 81 K/Q 165 rs56365812 0.5290 None gnomAD-2.1.1 1.2E-05
35209 81 K/Q 165 rs56365812 0.5290 None gnomAD-3.1.2 1.97E-05
35209 81 K/Q 165 rs56365812 0.5290 None 1000 genomes 1.99681E-04
35209 81 K/Q 165 rs56365812 0.5290 None gnomAD-4.0.0 4.95663E-06
35210 82 Q/H 166 rs397517798 0.3725 None gnomAD-4.0.0 1.59087E-06
35210 82 Q/K 166 None 0.3725 None gnomAD-4.0.0 4.10483E-06
35212 84 A/T 169 rs1462254442 0.1639 None gnomAD-3.1.2 6.57E-06
35212 84 A/T 169 rs1462254442 0.1639 None gnomAD-4.0.0 5.57681E-06
35213 85 E/A 171 rs748652325 0.8303 None gnomAD-2.1.1 8.03E-06
35213 85 E/A 171 rs748652325 0.8303 None gnomAD-4.0.0 4.10482E-06
35213 85 E/K 171 None 0.8303 None gnomAD-4.0.0 3.18176E-06
35214 86 F/L 172 rs560557634 0.0850 None gnomAD-2.1.1 2.81E-05
35214 86 F/L 172 rs560557634 0.0850 None gnomAD-3.1.2 2.63E-05
35214 86 F/L 172 rs560557634 0.0850 None 1000 genomes 7.98722E-04
35214 86 F/L 172 rs560557634 0.0850 None gnomAD-4.0.0 1.11527E-05
35214 86 F/V 172 None 0.0850 None gnomAD-4.0.0 1.20032E-06
35215 87 T/A 173 None 0.3547 None gnomAD-4.0.0 6.84137E-07
35215 87 T/I 173 rs1340897756 0.3547 None gnomAD-2.1.1 4.02E-06
35215 87 T/I 173 rs1340897756 0.3547 None gnomAD-3.1.2 6.57E-06
35215 87 T/I 173 rs1340897756 0.3547 None gnomAD-4.0.0 3.09811E-06
35215 87 T/P 173 rs769195414 0.3547 None gnomAD-2.1.1 1.61E-05
35215 87 T/P 173 rs769195414 0.3547 None gnomAD-3.1.2 6.57E-06
35215 87 T/P 173 rs769195414 0.3547 None gnomAD-4.0.0 5.57683E-06
35216 88 L/M 174 None 0.1189 None gnomAD-4.0.0 1.59089E-06
35216 88 L/P 174 rs1575223863 0.1189 None gnomAD-4.0.0 2.73655E-06
35216 88 L/Q 174 None 0.1189 None gnomAD-4.0.0 6.84139E-07
35218 90 I/L 178 None 0.1885 None gnomAD-4.0.0 1.59088E-06
35218 90 I/T 178 rs143499441 0.1885 None gnomAD-2.1.1 2.16939E-04
35218 90 I/T 178 rs143499441 0.1885 None gnomAD-3.1.2 7.23E-05
35218 90 I/T 178 rs143499441 0.1885 None 1000 genomes 3.99361E-04
35218 90 I/T 178 rs143499441 0.1885 None gnomAD-4.0.0 1.75975E-04