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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
22156 1 P/S 1 None 0.3071 None gnomAD-4.0.0 6.93322E-07
22158 3 G/V 3 rs569333267 0.2188 None gnomAD-2.1.1 4.45E-06
22158 3 G/V 3 rs569333267 0.2188 None gnomAD-3.1.2 1.97E-05
22158 3 G/V 3 rs569333267 0.2188 None 1000 genomes None
22158 3 G/V 3 rs569333267 0.2188 None gnomAD-4.0.0 1.9742E-05
22159 4 P/S 4 rs1471770452 0.3820 None gnomAD-2.1.1 4.43E-06
22159 4 P/S 4 rs1471770452 0.3820 None gnomAD-4.0.0 3.27065E-06
22160 5 P/L 5 rs777364605 0.1081 None gnomAD-2.1.1 1.77E-05
22160 5 P/L 5 rs777364605 0.1081 None gnomAD-3.1.2 1.32E-05
22160 5 P/L 5 rs777364605 0.1081 None gnomAD-4.0.0 2.19011E-05
22160 5 P/Q 5 None 0.1081 None gnomAD-4.0.0 6.91537E-07
22161 6 A/T 6 rs886038883 0.1772 None gnomAD-3.1.2 6.58E-06
22163 8 P/L 9 rs752183879 0.1640 None gnomAD-2.1.1 4.38E-06
22163 8 P/L 9 rs752183879 0.1640 None gnomAD-4.0.0 6.5072E-06
22164 9 K/I 11 rs371081043 0.5206 None gnomAD-2.1.1 6.48E-05
22164 9 K/I 11 rs371081043 0.5206 None gnomAD-3.1.2 1.51296E-04
22164 9 K/I 11 rs371081043 0.5206 None gnomAD-4.0.0 3.0608E-05
22164 9 K/Q 11 None 0.5206 None gnomAD-4.0.0 1.62479E-06
22164 9 K/T 11 rs371081043 0.5206 None gnomAD-2.1.1 1.3E-05
22164 9 K/T 11 rs371081043 0.5206 None gnomAD-4.0.0 2.07058E-06
22167 12 D/H 14 rs2047803841 0.4675 None gnomAD-4.0.0 6.8919E-07
22167 12 D/N 14 None 0.4675 None gnomAD-4.0.0 1.37838E-06
22168 13 T/I 15 rs762765266 0.1709 None gnomAD-2.1.1 4.26E-06
22168 13 T/K 15 None 0.1709 None gnomAD-4.0.0 2.06477E-06
22169 14 T/I 16 None 0.2915 None gnomAD-4.0.0 1.61167E-06
22170 15 R/C 17 rs377642110 0.5108 None gnomAD-2.1.1 1.28E-05
22170 15 R/C 17 rs377642110 0.5108 None gnomAD-3.1.2 1.97E-05
22170 15 R/C 17 rs377642110 0.5108 None gnomAD-4.0.0 8.09714E-06
22170 15 R/G 17 None 0.5108 None gnomAD-4.0.0 6.88022E-07
22170 15 R/H 17 rs190711640 0.5108 None gnomAD-2.1.1 4.26E-06
22170 15 R/H 17 rs190711640 0.5108 None gnomAD-3.1.2 6.58E-06
22170 15 R/H 17 rs190711640 0.5108 None gnomAD-4.0.0 7.47543E-06
22170 15 R/L 17 rs190711640 0.5108 None gnomAD-4.0.0 7.5697E-06
22171 16 S/I 18 rs775999434 0.3574 None gnomAD-2.1.1 4.24E-06
22171 16 S/I 18 rs775999434 0.3574 None gnomAD-4.0.0 1.37538E-06
22171 16 S/N 18 rs775999434 0.3574 None gnomAD-2.1.1 4.24E-06
22171 16 S/N 18 rs775999434 0.3574 None gnomAD-4.0.0 1.37538E-06
22171 16 S/R 18 rs768917357 0.3574 None gnomAD-2.1.1 4.24E-06
22171 16 S/R 18 rs768917357 0.3574 None gnomAD-4.0.0 1.3753E-06
22172 17 S/Y 19 rs1455920569 0.1190 None gnomAD-2.1.1 4.22E-06
22172 17 S/Y 19 rs1455920569 0.1190 None gnomAD-4.0.0 1.60848E-06
22173 18 V/A 20 rs746199327 0.1003 None gnomAD-2.1.1 4.2E-06
22173 18 V/A 20 rs746199327 0.1003 None gnomAD-4.0.0 1.60731E-06
22173 18 V/L 20 rs1347199587 0.1003 None gnomAD-2.1.1 4.21E-06
22174 19 S/N 21 None 0.1073 None gnomAD-4.0.0 6.87091E-07
22176 21 S/F 23 rs779303152 0.1602 None gnomAD-2.1.1 3.34E-05
22176 21 S/F 23 rs779303152 0.1602 None gnomAD-3.1.2 4.6E-05
22176 21 S/F 23 rs779303152 0.1602 None gnomAD-4.0.0 5.03502E-05
22177 22 W/L 24 None 0.1338 None gnomAD-4.0.0 1.60362E-06
22178 23 G/D 25 None 0.2192 None gnomAD-4.0.0 2.40065E-06
22178 23 G/S 25 None 0.2192 None gnomAD-4.0.0 1.60301E-06
22178 23 G/V 25 None 0.2192 None gnomAD-4.0.0 1.20032E-06
22179 24 K/E 26 rs747865430 0.8167 None gnomAD-2.1.1 8.33E-06
22179 24 K/E 26 rs747865430 0.8167 None gnomAD-4.0.0 3.20492E-06
22180 25 P/T 27 None 0.1940 None gnomAD-4.0.0 1.60199E-06
22181 26 A/G 28 rs1187714227 0.8835 None gnomAD-2.1.1 7.33E-06
22181 26 A/G 28 rs1187714227 0.8835 None gnomAD-3.1.2 6.57E-06
22181 26 A/G 28 rs1187714227 0.8835 None gnomAD-4.0.0 2.57455E-06
22181 26 A/T 28 None 0.8835 None gnomAD-4.0.0 6.86036E-07
22182 27 Y/C 29 rs879016147 0.4964 None gnomAD-3.1.2 1.32E-05
22182 27 Y/C 29 rs879016147 0.4964 None gnomAD-4.0.0 9.3169E-06
22182 27 Y/D 29 rs878854327 0.4964 None gnomAD-2.1.1 3.19E-05
22182 27 Y/D 29 rs878854327 0.4964 None gnomAD-3.1.2 1.97E-05
22182 27 Y/D 29 rs878854327 0.4964 None gnomAD-4.0.0 6.43525E-06
22183 28 D/E 30 None 0.2410 None gnomAD-4.0.0 6.8592E-07
22184 29 G/S 31 rs1262240030 0.0773 None gnomAD-3.1.2 6.58E-06
22184 29 G/S 31 rs1262240030 0.0773 None gnomAD-4.0.0 2.48374E-06
22185 30 G/S 32 rs560206502 0.3126 None gnomAD-2.1.1 4.11E-06
22185 30 G/S 32 rs560206502 0.3126 None gnomAD-3.1.2 1.97E-05
22185 30 G/S 32 rs560206502 0.3126 None 1000 genomes 1.99681E-04
22185 30 G/S 32 rs560206502 0.3126 None gnomAD-4.0.0 5.58748E-06
22186 31 S/G 33 None 0.1308 None gnomAD-4.0.0 1.59774E-06
22186 31 S/N 33 rs529719640 0.1308 None gnomAD-2.1.1 4.11E-06
22186 31 S/N 33 rs529719640 0.1308 None gnomAD-3.1.2 6.58E-06
22186 31 S/N 33 rs529719640 0.1308 None 1000 genomes 1.99681E-04
22186 31 S/N 33 rs529719640 0.1308 None gnomAD-4.0.0 6.57022E-06
22186 31 S/R 33 rs750211489 0.1308 None gnomAD-2.1.1 4.1E-06
22186 31 S/R 33 rs750211489 0.1308 None gnomAD-3.1.2 1.31E-05
22186 31 S/R 33 rs750211489 0.1308 None 1000 genomes 3.99361E-04
22186 31 S/R 33 rs750211489 0.1308 None gnomAD-4.0.0 1.20034E-06
22187 32 P/R 34 None 0.6751 None gnomAD-4.0.0 6.85345E-07
22187 32 P/S 34 rs1160117316 0.6751 None gnomAD-3.1.2 6.58E-06
22187 32 P/S 34 rs1160117316 0.6751 None gnomAD-4.0.0 6.57644E-06
22189 34 I/T 36 rs369934753 0.3449 None gnomAD-2.1.1 1.44E-05
22189 34 I/T 36 rs369934753 0.3449 None gnomAD-3.1.2 2.63E-05
22189 34 I/T 36 rs369934753 0.3449 None gnomAD-4.0.0 3.84645E-05
22190 35 G/R 37 rs757537780 0.0815 None gnomAD-2.1.1 1.22E-05
22190 35 G/R 37 rs757537780 0.0815 None gnomAD-3.1.2 3.29E-05
22190 35 G/R 37 rs757537780 0.0815 None gnomAD-4.0.0 1.40835E-04
22192 37 L/F 39 None 0.1113 None gnomAD-4.0.0 1.59535E-06
22192 37 L/P 39 None 0.1113 None gnomAD-4.0.0 2.40066E-06
22193 38 V/A 40 rs775454536 0.0981 None gnomAD-2.1.1 4.05E-06
22193 38 V/A 40 rs775454536 0.0981 None gnomAD-4.0.0 4.78373E-06
22193 38 V/I 40 rs760767895 0.0981 None gnomAD-2.1.1 8.1E-06
22193 38 V/I 40 rs760767895 0.0981 None gnomAD-3.1.2 1.97E-05
22193 38 V/I 40 rs760767895 0.0981 None gnomAD-4.0.0 2.10898E-05
22194 39 E/K 41 rs768049902 0.0892 None gnomAD-2.1.1 8.91E-05
22194 39 E/K 41 rs768049902 0.0892 None gnomAD-3.1.2 1.97E-05
22194 39 E/K 41 rs768049902 0.0892 None gnomAD-4.0.0 3.5974E-05
22194 39 E/V 41 rs1425317708 0.0892 None gnomAD-2.1.1 4.05E-06
22194 39 E/V 41 rs1425317708 0.0892 None gnomAD-4.0.0 3.18897E-06
22195 40 V/L 42 None 0.1240 None gnomAD-4.0.0 1.59442E-06
22197 42 R/Q 44 rs374656017 0.3421 None gnomAD-2.1.1 9.69E-05
22197 42 R/Q 44 rs374656017 0.3421 None gnomAD-3.1.2 1.57882E-04
22197 42 R/Q 44 rs374656017 0.3421 None gnomAD-4.0.0 6.38772E-05
22197 42 R/W 44 rs774696610 0.3421 None gnomAD-2.1.1 2.51E-05
22197 42 R/W 44 rs774696610 0.3421 None gnomAD-3.1.2 5.26E-05
22197 42 R/W 44 rs774696610 0.3421 None gnomAD-4.0.0 1.05438E-05
22198 43 A/T 50 rs2047776872 0.2291 None gnomAD-3.1.2 6.58E-06
22198 43 A/T 50 rs2047776872 0.2291 None gnomAD-4.0.0 2.56623E-06
22200 45 S/C 60 None 0.2668 None gnomAD-4.0.0 1.36939E-06
22200 45 S/F 60 rs749655019 0.2668 None gnomAD-2.1.1 2.02E-05
22200 45 S/F 60 rs749655019 0.2668 None gnomAD-4.0.0 6.84693E-06
22201 46 D/G 63 None 0.8297 None gnomAD-4.0.0 1.20032E-06
22201 46 D/N 63 rs368924655 0.8297 None gnomAD-2.1.1 2.15E-05
22201 46 D/N 63 rs368924655 0.8297 None gnomAD-3.1.2 9.21E-05
22201 46 D/N 63 rs368924655 0.8297 None gnomAD-4.0.0 3.22449E-05
22202 47 N/K 64 rs1224096976 0.8175 None gnomAD-4.0.0 3.18729E-06
22203 48 W/G 65 None 0.2508 None gnomAD-4.0.0 1.59364E-06
22204 49 V/A 66 None 0.5620 None gnomAD-4.0.0 1.20032E-06
22204 49 V/M 66 rs376238023 0.5620 None gnomAD-2.1.1 8.07E-06
22204 49 V/M 66 rs376238023 0.5620 None gnomAD-3.1.2 6.58E-06
22204 49 V/M 66 rs376238023 0.5620 None gnomAD-4.0.0 5.39495E-05
22205 50 R/K 67 rs72646869 0.3880 None gnomAD-2.1.1 1.36236E-02
22205 50 R/K 67 rs72646869 0.3880 None gnomAD-3.1.2 1.26459E-02
22205 50 R/K 67 rs72646869 0.3880 None 1000 genomes 5.79073E-03
22205 50 R/K 67 rs72646869 0.3880 None gnomAD-4.0.0 1.78606E-02
22206 51 C/W 68 None 0.2091 None gnomAD-4.0.0 6.84639E-07
22206 51 C/Y 68 None 0.2091 None gnomAD-4.0.0 2.73852E-06
22207 52 N/K 69 rs2047770950 0.1625 None gnomAD-3.1.2 6.58E-06
22207 52 N/K 69 rs2047770950 0.1625 None gnomAD-4.0.0 1.20032E-06
22209 54 P/L 72 rs779009635 0.7478 None gnomAD-2.1.1 8.06E-06
22209 54 P/L 72 rs779009635 0.7478 None gnomAD-4.0.0 2.05388E-06
22209 54 P/T 72 None 0.7478 None gnomAD-4.0.0 1.20032E-06
22210 55 Q/E 74 None 0.8041 None gnomAD-4.0.0 1.59349E-06
22210 55 Q/K 74 rs757047748 0.8041 None gnomAD-2.1.1 8.06E-06
22210 55 Q/K 74 rs757047748 0.8041 None gnomAD-4.0.0 3.18699E-06
22215 60 T/N 89 None 0.2171 None gnomAD-4.0.0 1.59361E-06
22216 61 R/C 90 rs1365775589 0.6609 None gnomAD-2.1.1 1.21E-05
22216 61 R/C 90 rs1365775589 0.6609 None gnomAD-4.0.0 8.90043E-06
22216 61 R/H 90 None 0.6609 None gnomAD-2.1.1 2.82E-05
22216 61 R/H 90 None 0.6609 None gnomAD-3.1.2 3.29E-05
22216 61 R/H 90 None 0.6609 None gnomAD-4.0.0 4.46481E-05
22216 61 R/L 90 rs753717922 0.6609 None gnomAD-4.0.0 2.7386E-06
22216 61 R/P 90 rs753717922 0.6609 None gnomAD-2.1.1 4.03E-06
22216 61 R/P 90 rs753717922 0.6609 None gnomAD-4.0.0 6.8465E-07
22217 62 F/C 91 rs764330098 0.1910 None gnomAD-2.1.1 1.07E-05
22217 62 F/C 91 rs764330098 0.1910 None gnomAD-3.1.2 2.63E-05
22217 62 F/C 91 rs764330098 0.1910 None gnomAD-4.0.0 1.55021E-05
22217 62 F/L 91 None 0.1910 None gnomAD-4.0.0 1.20043E-06
22218 63 E/D 92 rs1210761677 0.3925 None gnomAD-2.1.1 3.19E-05
22218 63 E/D 92 rs1210761677 0.3925 None gnomAD-4.0.0 7.96772E-06
22218 63 E/V 92 rs2047762977 0.3925 None gnomAD-3.1.2 6.58E-06
22218 63 E/V 92 rs2047762977 0.3925 None gnomAD-4.0.0 6.57739E-06
22220 65 T/I 94 None 0.5618 None gnomAD-4.0.0 1.36926E-06
22222 67 L/M 97 None 0.1236 None gnomAD-4.0.0 1.36929E-06
22223 68 M/I 98 rs1049450842 0.6091 None gnomAD-2.1.1 1.21E-05
22223 68 M/I 98 rs1049450842 0.6091 None gnomAD-4.0.0 4.10796E-06
22223 68 M/K 98 rs752794705 0.6091 None gnomAD-2.1.1 4.03E-06
22223 68 M/K 98 rs752794705 0.6091 None gnomAD-4.0.0 3.42324E-06
22223 68 M/L 98 None 0.6091 None gnomAD-4.0.0 3.60102E-06
22223 68 M/T 98 rs752794705 0.6091 None gnomAD-2.1.1 8.07E-06
22223 68 M/T 98 rs752794705 0.6091 None gnomAD-3.1.2 6.58E-06
22223 68 M/T 98 rs752794705 0.6091 None gnomAD-4.0.0 6.20091E-06
22224 69 E/K 99 None 0.4358 None gnomAD-4.0.0 1.59364E-06
22225 70 D/N 100 rs72646870 0.7990 None gnomAD-2.1.1 1.89742E-04
22225 70 D/N 100 rs72646870 0.7990 None gnomAD-3.1.2 3.09093E-04
22225 70 D/N 100 rs72646870 0.7990 None 1000 genomes 1.99681E-04
22225 70 D/N 100 rs72646870 0.7990 None gnomAD-4.0.0 3.60894E-04
22226 71 T/I 102 None 0.1598 None gnomAD-4.0.0 1.20034E-06
22227 72 Q/P 103 rs1403005823 0.2750 None gnomAD-3.1.2 6.58E-06
22227 72 Q/P 103 rs1403005823 0.2750 None gnomAD-4.0.0 6.57566E-06
22227 72 Q/R 103 rs1403005823 0.2750 None gnomAD-3.1.2 6.58E-06
22227 72 Q/R 103 rs1403005823 0.2750 None gnomAD-4.0.0 6.57566E-06
22228 73 Y/H 104 rs1170889599 0.1038 None gnomAD-2.1.1 4.03E-06
22228 73 Y/H 104 rs1170889599 0.1038 None gnomAD-4.0.0 1.59384E-06
22230 75 F/L 106 None 0.1164 None gnomAD-4.0.0 1.36958E-06
22230 75 F/V 106 None 0.1164 None gnomAD-4.0.0 1.59392E-06
22231 76 R/C 107 rs760026147 0.1138 None gnomAD-2.1.1 4.04E-06
22231 76 R/C 107 rs760026147 0.1138 None gnomAD-3.1.2 1.32E-05
22231 76 R/C 107 rs760026147 0.1138 None gnomAD-4.0.0 9.92409E-06
22231 76 R/H 107 rs200971254 0.1138 None gnomAD-2.1.1 4.33418E-04
22231 76 R/H 107 rs200971254 0.1138 None gnomAD-3.1.2 1.09182E-03
22231 76 R/H 107 rs200971254 0.1138 None 1000 genomes 1.79712E-03
22231 76 R/H 107 rs200971254 0.1138 None gnomAD-4.0.0 2.20759E-04
22231 76 R/L 107 rs200971254 0.1138 None gnomAD-2.1.1 8.07E-06
22231 76 R/L 107 rs200971254 0.1138 None gnomAD-4.0.0 4.10829E-06
22232 77 V/A 108 None 0.0836 None gnomAD-4.0.0 1.59395E-06
22232 77 V/E 108 rs2047754989 0.0836 MmD-HD
Literature None
22232 77 V/L 108 rs979149024 0.0836 None gnomAD-4.0.0 1.20033E-06
22233 78 Y/C 109 rs763250975 0.1425 None gnomAD-2.1.1 8.07E-06
22233 78 Y/C 109 rs763250975 0.1425 None gnomAD-4.0.0 3.18792E-06
22235 80 V/I 111 rs751354601 0.0901 None gnomAD-2.1.1 1.07513E-04
22235 80 V/I 111 rs751354601 0.0901 None gnomAD-3.1.2 1.11792E-04
22235 80 V/I 111 rs751354601 0.0901 None gnomAD-4.0.0 9.55174E-05
22236 81 N/S 112 rs771424887 0.0814 None gnomAD-2.1.1 8.07E-06
22236 81 N/S 112 rs771424887 0.0814 None gnomAD-3.1.2 6.58E-06
22236 81 N/S 112 rs771424887 0.0814 None gnomAD-4.0.0 6.57523E-06
22237 82 K/N 113 None 0.5227 None gnomAD-4.0.0 1.59508E-06
22238 83 I/N 114 rs1233016025 0.3228 None gnomAD-3.1.2 6.58E-06
22238 83 I/N 114 rs1233016025 0.3228 None gnomAD-4.0.0 2.56756E-06
22238 83 I/T 114 rs1233016025 0.3228 None gnomAD-2.1.1 4.04E-06
22238 83 I/T 114 rs1233016025 0.3228 None gnomAD-4.0.0 1.59521E-06
22238 83 I/V 114 None 0.3228 None gnomAD-4.0.0 1.20032E-06
22240 85 Y/C 117 rs745376985 0.4756 None gnomAD-2.1.1 4.04E-06
22240 85 Y/C 117 rs745376985 0.4756 None gnomAD-4.0.0 1.37016E-06
22240 85 Y/N 117 None 0.4756 None gnomAD-4.0.0 1.20033E-06
22241 86 S/R 118 rs778956602 0.0851 None gnomAD-2.1.1 8.09E-06
22241 86 S/R 118 rs778956602 0.0851 None gnomAD-3.1.2 1.97E-05
22241 86 S/R 118 rs778956602 0.0851 None gnomAD-4.0.0 8.69015E-06
22242 87 D/H 119 None 0.7785 None gnomAD-4.0.0 1.59891E-06
22242 87 D/N 119 None 0.7785 None gnomAD-4.0.0 1.59891E-06
22243 88 P/T 120 None 0.2726 None gnomAD-4.0.0 4.79862E-06
22245 90 D/E 122 rs1306264861 0.5699 None gnomAD-2.1.1 1.22E-05
22245 90 D/E 122 rs1306264861 0.5699 None gnomAD-4.0.0 4.81058E-06
22245 90 D/N 122 None 0.5699 None gnomAD-4.0.0 1.37255E-06
22245 90 D/V 122 rs757282339 0.5699 None gnomAD-2.1.1 4.06E-06
22245 90 D/V 122 rs757282339 0.5699 None gnomAD-3.1.2 6.58E-06
22245 90 D/V 122 rs757282339 0.5699 None gnomAD-4.0.0 3.86496E-06
22245 90 D/Y 122 None 0.5699 None gnomAD-4.0.0 8.92157E-06
22246 91 V/A 123 None 0.1559 None gnomAD-4.0.0 1.60916E-06
22246 91 V/M 123 rs1393150545 0.1559 None gnomAD-2.1.1 8.15E-06
22246 91 V/M 123 rs1393150545 0.1559 None gnomAD-4.0.0 1.78752E-05
22247 92 P/L 124 rs749070757 0.5349 None gnomAD-2.1.1 4.08E-06
22247 92 P/L 124 rs749070757 0.5349 None gnomAD-4.0.0 3.43944E-06
22248 93 D/E 125 rs2047745662 0.8196 None gnomAD-4.0.0 1.61291E-06
22250 95 H/Q 127 rs928913814 0.2579 None gnomAD-2.1.1 3.19E-05
22250 95 H/Q 127 rs928913814 0.2579 None gnomAD-3.1.2 1.32E-05
22250 95 H/Q 127 rs928913814 0.2579 None gnomAD-4.0.0 4.99094E-06
22251 96 Y/H 129 rs1298637846 0.4294 None gnomAD-2.1.1 3.19E-05
22251 96 Y/N 129 rs1298637846 0.4294 None gnomAD-2.1.1 4.13E-06
22251 96 Y/N 129 rs1298637846 0.4294 None gnomAD-4.0.0 1.62264E-06
22252 97 P/L 130 None 0.0857 None gnomAD-4.0.0 1.62684E-06
22254 99 D/N 132 rs756359190 0.4911 None gnomAD-2.1.1 4.21E-06
22254 99 D/N 132 rs756359190 0.4911 None gnomAD-3.1.2 6.58E-06
22254 99 D/N 132 rs756359190 0.4911 None gnomAD-4.0.0 3.93266E-06