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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
17147 1 P/H 1 rs1193239944 0.4918 None gnomAD-2.1.1 3.2E-05
17147 1 P/H 1 rs1193239944 0.4918 None gnomAD-3.1.2 1.32E-05
17147 1 P/H 1 rs1193239944 0.4918 None gnomAD-4.0.0 5.58967E-06
17147 1 P/T 1 rs876658065 0.4918 None gnomAD-3.1.2 6.58E-06
17147 1 P/T 1 rs876658065 0.4918 None gnomAD-4.0.0 2.57391E-06
17148 2 P/A 2 None 0.0966 None gnomAD-4.0.0 2.40064E-06
17148 2 P/R 2 rs2154198776 0.0966 None gnomAD-4.0.0 3.42732E-06
17148 2 P/S 2 rs727504193 0.0966 None gnomAD-4.0.0 1.20032E-06
17149 3 D/G 3 rs2055912610 0.3524 None gnomAD-3.1.2 6.58E-06
17149 3 D/G 3 rs2055912610 0.3524 None gnomAD-4.0.0 6.58267E-06
17150 4 P/L 4 rs764792715 0.2510 None gnomAD-2.1.1 4.06E-06
17150 4 P/L 4 rs764792715 0.2510 None gnomAD-3.1.2 6.58E-06
17150 4 P/L 4 rs764792715 0.2510 None gnomAD-4.0.0 3.72502E-06
17151 5 P/L 5 rs756877904 0.1057 None gnomAD-2.1.1 4.05E-06
17151 5 P/S 5 rs1203114137 0.1057 None gnomAD-2.1.1 4.05E-06
17151 5 P/S 5 rs1203114137 0.1057 None gnomAD-4.0.0 1.37013E-06
17152 6 V/A 6 None 0.2808 None gnomAD-4.0.0 1.59519E-06
17152 6 V/I 6 rs1553692607 0.2808 None gnomAD-4.0.0 2.05508E-06
17153 7 D/E 7 rs151281257 0.5079 None gnomAD-2.1.1 5.38E-05
17153 7 D/E 7 rs151281257 0.5079 None gnomAD-3.1.2 3.29E-05
17153 7 D/E 7 rs151281257 0.5079 None 1000 genomes 1.99681E-04
17153 7 D/E 7 rs151281257 0.5079 None gnomAD-4.0.0 3.65975E-05
17153 7 D/G 7 None 0.5079 None gnomAD-4.0.0 1.5951E-06
17154 8 V/A 9 rs371799925 0.1958 None gnomAD-2.1.1 2.15E-05
17154 8 V/A 9 rs371799925 0.1958 None gnomAD-3.1.2 3.29E-05
17154 8 V/A 9 rs371799925 0.1958 None gnomAD-4.0.0 4.34174E-06
17154 8 V/I 9 rs374701373 0.1958 None gnomAD-2.1.1 2.02E-05
17154 8 V/I 9 rs374701373 0.1958 None gnomAD-3.1.2 4.61E-05
17154 8 V/I 9 rs374701373 0.1958 None gnomAD-4.0.0 9.30448E-06
17155 9 E/G 11 rs926188442 0.4869 None gnomAD-3.1.2 1.32E-05
17155 9 E/G 11 rs926188442 0.4869 None gnomAD-4.0.0 1.31638E-05
17155 9 E/V 11 None 0.4869 None gnomAD-4.0.0 1.20032E-06
17156 10 V/I 12 rs775371086 0.2211 None gnomAD-2.1.1 4.04E-06
17156 10 V/I 12 rs775371086 0.2211 None gnomAD-4.0.0 3.18801E-06
17157 11 H/D 13 None 0.3623 None gnomAD-4.0.0 6.84676E-07
17157 11 H/R 13 None 0.3623 None gnomAD-4.0.0 1.3693E-06
17157 11 H/Y 13 None 0.3623 None gnomAD-4.0.0 3.42338E-06
17159 13 P/L 15 None 0.3057 None gnomAD-4.0.0 3.1868E-06
17159 13 P/T 15 None 0.3057 None gnomAD-4.0.0 1.59351E-06
17160 14 T/I 16 None 0.2445 None gnomAD-4.0.0 1.20032E-06
17160 14 T/S 16 None 0.2445 None gnomAD-4.0.0 1.20032E-06
17161 15 A/S 17 None 0.1540 None gnomAD-4.0.0 3.18655E-06
17161 15 A/V 17 rs16866412 0.1540 None gnomAD-2.1.1 3.46646E-02
17161 15 A/V 17 rs16866412 0.1540 None gnomAD-3.1.2 3.83395E-02
17161 15 A/V 17 rs16866412 0.1540 None 1000 genomes 7.26837E-02
17161 15 A/V 17 rs16866412 0.1540 None gnomAD-4.0.0 2.26018E-02
17162 16 E/G 18 None 0.7786 None gnomAD-4.0.0 1.59316E-06
17164 18 M/I 20 None 0.0776 None gnomAD-4.0.0 6.84538E-07
17164 18 M/T 20 rs1559765154 0.0776 None gnomAD-2.1.1 4.03E-06
17164 18 M/T 20 rs1559765154 0.0776 None gnomAD-4.0.0 1.36908E-06
17164 18 M/V 20 rs922802371 0.0776 None gnomAD-3.1.2 6.58E-06
17164 18 M/V 20 rs922802371 0.0776 None gnomAD-4.0.0 2.48016E-06
17166 20 I/V 22 None 0.0665 None gnomAD-4.0.0 1.59299E-06
17167 21 T/I 23 rs749322226 0.2330 None gnomAD-2.1.1 1.43E-05
17167 21 T/I 23 rs749322226 0.2330 None gnomAD-3.1.2 1.97E-05
17167 21 T/I 23 rs749322226 0.2330 None gnomAD-4.0.0 6.82039E-06
17169 23 K/M 25 rs1167283297 0.4776 None gnomAD-3.1.2 6.58E-06
17169 23 K/M 25 rs1167283297 0.4776 None gnomAD-4.0.0 2.56469E-06
17171 25 P/L 27 rs770226870 0.1475 None gnomAD-2.1.1 4.03E-06
17171 25 P/L 27 rs770226870 0.1475 None gnomAD-4.0.0 3.18577E-06
17171 25 P/S 27 rs773302755 0.1475 None gnomAD-2.1.1 1.21E-05
17171 25 P/S 27 rs773302755 0.1475 None gnomAD-4.0.0 5.47608E-06
17173 27 Y/C 29 rs748656984 0.5069 None gnomAD-2.1.1 8.05E-06
17173 27 Y/C 29 rs748656984 0.5069 None gnomAD-3.1.2 6.58E-06
17173 27 Y/C 29 rs748656984 0.5069 None gnomAD-4.0.0 7.69422E-06
17173 27 Y/H 29 None 0.5069 None gnomAD-4.0.0 1.20032E-06
17175 29 G/E 31 rs961480775 0.2251 None gnomAD-4.0.0 2.05348E-06
17176 30 G/A 32 rs768961892 0.5383 None gnomAD-2.1.1 2.37524E-04
17176 30 G/A 32 rs768961892 0.5383 None gnomAD-3.1.2 6.58E-06
17176 30 G/A 32 rs768961892 0.5383 None gnomAD-4.0.0 4.03007E-05
17177 31 S/N 33 rs745512911 0.2777 None gnomAD-2.1.1 7.15E-06
17177 31 S/N 33 rs745512911 0.2777 None gnomAD-3.1.2 1.32E-05
17177 31 S/N 33 rs745512911 0.2777 None gnomAD-4.0.0 1.17801E-05
17181 35 G/D 37 None 0.0969 None gnomAD-4.0.0 3.60097E-06
17183 37 I/T 39 rs757000767 0.1664 None gnomAD-2.1.1 4.02E-06
17183 37 I/T 39 rs757000767 0.1664 None gnomAD-3.1.2 1.32E-05
17183 37 I/T 39 rs757000767 0.1664 None gnomAD-4.0.0 3.8477E-06
17184 38 I/M 40 rs767319592 0.0631 None gnomAD-2.1.1 3.62E-05
17184 38 I/M 40 rs767319592 0.0631 None gnomAD-3.1.2 6.58E-06
17184 38 I/M 40 rs767319592 0.0631 None gnomAD-4.0.0 8.05965E-06
17184 38 I/T 40 rs752646731 0.0631 None gnomAD-2.1.1 5.23E-05
17184 38 I/T 40 rs752646731 0.0631 None gnomAD-3.1.2 1.32E-05
17184 38 I/T 40 rs752646731 0.0631 None gnomAD-4.0.0 5.51798E-05
17184 38 I/V 40 rs777442915 0.0631 None gnomAD-4.0.0 4.77791E-06
17185 39 E/Q 41 None 0.1309 None gnomAD-4.0.0 1.59266E-06
17187 41 I/M 43 None 0.0943 None gnomAD-4.0.0 2.40064E-06
17187 41 I/T 43 None 0.0943 None gnomAD-4.0.0 1.36893E-06
17188 42 A/S 44 rs1324072715 0.1566 None gnomAD-2.1.1 4.02E-06
17188 42 A/S 44 rs1324072715 0.1566 None gnomAD-4.0.0 1.59263E-06
17188 42 A/T 44 None 0.1566 None gnomAD-4.0.0 1.59263E-06
17189 43 K/E 50 rs727503618 0.6148 None gnomAD-2.1.1 8.05E-06
17190 44 G/D 54 None 0.6768 None gnomAD-4.0.0 6.84462E-07
17190 44 G/V 54 None 0.6768 None gnomAD-4.0.0 1.36892E-06
17191 45 E/K 60 None 0.4259 None gnomAD-4.0.0 2.40064E-06
17193 47 R/S 64 rs759285989 0.8712 None gnomAD-2.1.1 1.61E-05
17193 47 R/S 64 rs759285989 0.8712 None gnomAD-3.1.2 6.58E-06
17193 47 R/S 64 rs759285989 0.8712 None gnomAD-4.0.0 9.92025E-06
17195 49 K/N 66 None 0.5029 None gnomAD-4.0.0 1.20032E-06
17196 50 R/I 67 rs751398376 0.3356 None gnomAD-2.1.1 1.21E-05
17196 50 R/I 67 rs751398376 0.3356 None gnomAD-3.1.2 6.58E-06
17196 50 R/I 67 rs751398376 0.3356 None gnomAD-4.0.0 5.58011E-06
17196 50 R/K 67 None 0.3356 None gnomAD-4.0.0 6.8446E-07
17196 50 R/T 67 rs751398376 0.3356 None gnomAD-2.1.1 4.02E-06
17196 50 R/T 67 rs751398376 0.3356 None gnomAD-4.0.0 6.8446E-07
17197 51 C/Y 68 None 0.1857 None gnomAD-4.0.0 1.36894E-06
17198 52 N/S 69 rs766535854 0.1147 None gnomAD-2.1.1 4.02E-06
17198 52 N/S 69 rs766535854 0.1147 None gnomAD-3.1.2 1.32E-05
17198 52 N/S 69 rs766535854 0.1147 None gnomAD-4.0.0 5.58023E-06
17198 52 N/T 69 None 0.1147 None gnomAD-4.0.0 6.84471E-07
17200 54 H/Y 72 rs2055879782 0.8376 None gnomAD-3.1.2 6.59E-06
17200 54 H/Y 72 rs2055879782 0.8376 None gnomAD-4.0.0 2.03065E-06
17202 56 V/G 77 None 0.1098 None gnomAD-4.0.0 1.36893E-06
17203 57 P/S 83 rs1559763601 0.5960 None gnomAD-4.0.0 1.20032E-06
17204 58 I/V 88 rs1383602491 0.5049 None gnomAD-3.1.2 6.59E-06
17204 58 I/V 88 rs1383602491 0.5049 None gnomAD-4.0.0 1.8601E-06
17206 60 T/N 90 rs1305177155 0.3645 None gnomAD-2.1.1 2.01E-05
17206 60 T/N 90 rs1305177155 0.3645 None gnomAD-3.1.2 6.59E-06
17206 60 T/N 90 rs1305177155 0.3645 None gnomAD-4.0.0 7.44109E-06
17208 62 T/I 92 None 0.3254 None gnomAD-4.0.0 2.73798E-06
17208 62 T/R 92 None 0.3254 None gnomAD-4.0.0 6.84495E-07
17209 63 A/T 93 rs1292930837 0.1093 None gnomAD-3.1.2 1.32E-05
17209 63 A/T 93 rs1292930837 0.1093 None gnomAD-4.0.0 6.82061E-06
17211 65 G/E 96 rs1447802224 0.4809 None gnomAD-4.0.0 1.36901E-06
17211 65 G/V 96 rs1447802224 0.4809 None gnomAD-2.1.1 3.19E-05
17211 65 G/V 96 rs1447802224 0.4809 None gnomAD-3.1.2 6.59E-06
17211 65 G/V 96 rs1447802224 0.4809 None gnomAD-4.0.0 4.34036E-06
17212 66 L/F 97 rs1473716049 0.1271 None gnomAD-2.1.1 4.02E-06
17212 66 L/F 97 rs1473716049 0.1271 None gnomAD-4.0.0 4.77864E-06
17212 66 L/V 97 rs1473716049 0.1271 None gnomAD-2.1.1 4.02E-06
17212 66 L/V 97 rs1473716049 0.1271 None gnomAD-4.0.0 1.59288E-06
17213 67 E/Q 98 None 0.4646 None gnomAD-4.0.0 8.21406E-06
17214 68 E/D 99 rs372443762 0.7233 None gnomAD-2.1.1 2.86E-05
17214 68 E/D 99 rs372443762 0.7233 None gnomAD-3.1.2 7.24E-05
17214 68 E/D 99 rs372443762 0.7233 None gnomAD-4.0.0 6.8453E-07
17214 68 E/K 99 rs769926361 0.7233 None gnomAD-4.0.0 3.42257E-06
17215 69 G/R 100 None 0.2959 None gnomAD-4.0.0 6.84524E-07
17215 69 G/W 100 rs777054402 0.2959 None gnomAD-2.1.1 8.04E-06
17215 69 G/W 100 rs777054402 0.2959 None gnomAD-3.1.2 6.58E-06
17215 69 G/W 100 rs777054402 0.2959 None gnomAD-4.0.0 7.44078E-06
17217 71 E/A 103 None 0.2498 None gnomAD-4.0.0 6.84539E-07
17217 71 E/D 103 None 0.2498 None gnomAD-4.0.0 1.36909E-06
17217 71 E/G 103 None 0.2498 None gnomAD-4.0.0 6.84539E-07
17217 71 E/K 103 rs1060500503 0.2498 None gnomAD-2.1.1 8.05E-06
17217 71 E/K 103 rs1060500503 0.2498 None gnomAD-4.0.0 3.42267E-06
17220 74 F/I 106 rs747296177 0.1201 None gnomAD-2.1.1 4.03E-06
17220 74 F/I 106 rs747296177 0.1201 None gnomAD-4.0.0 1.59315E-06
17221 75 R/C 107 rs780490612 0.1144 None gnomAD-2.1.1 1.21E-05
17221 75 R/C 107 rs780490612 0.1144 None gnomAD-3.1.2 6.59E-06
17221 75 R/C 107 rs780490612 0.1144 None gnomAD-4.0.0 6.20144E-06
17221 75 R/G 107 None 0.1144 None gnomAD-4.0.0 6.8461E-07
17221 75 R/H 107 rs770653436 0.1144 None gnomAD-2.1.1 7.15E-05
17221 75 R/H 107 rs770653436 0.1144 None gnomAD-3.1.2 3.95E-05
17221 75 R/H 107 rs770653436 0.1144 None gnomAD-4.0.0 3.28671E-05
17222 76 V/E 108 None 0.0727 None gnomAD-4.0.0 3.18682E-06
17222 76 V/G 108 rs1014056487 0.0727 None gnomAD-2.1.1 3.19E-05
17222 76 V/G 108 rs1014056487 0.0727 None gnomAD-3.1.2 6.58E-06
17222 76 V/G 108 rs1014056487 0.0727 None gnomAD-4.0.0 2.56573E-06
17222 76 V/M 108 None 0.0727 None gnomAD-4.0.0 1.20032E-06
17223 77 R/Q 109 rs142395261 0.1481 None gnomAD-2.1.1 2.5E-05
17223 77 R/Q 109 rs142395261 0.1481 None gnomAD-3.1.2 9.21E-05
17223 77 R/Q 109 rs142395261 0.1481 None 1000 genomes 1.99681E-04
17223 77 R/Q 109 rs142395261 0.1481 None gnomAD-4.0.0 1.79828E-05
17224 78 A/G 110 rs2055864896 0.0722 None gnomAD-3.1.2 6.58E-06
17224 78 A/G 110 rs2055864896 0.0722 None gnomAD-4.0.0 2.56604E-06
17225 79 E/D 111 None 0.2558 None gnomAD-4.0.0 6.84727E-07
17225 79 E/Q 111 rs2154198655 0.2558 None gnomAD-3.1.2 6.58E-06
17225 79 E/Q 111 rs2154198655 0.2558 None gnomAD-4.0.0 6.57704E-06
17226 80 N/D 112 rs780947951 0.1048 None gnomAD-2.1.1 4.03E-06
17226 80 N/D 112 rs780947951 0.1048 None gnomAD-4.0.0 1.59391E-06
17227 81 A/T 113 rs904223315 0.6388 None gnomAD-2.1.1 1.61E-05
17227 81 A/T 113 rs904223315 0.6388 None gnomAD-4.0.0 1.09575E-05
17228 82 A/T 114 rs369150143 0.4784 None gnomAD-2.1.1 1.32616E-04
17228 82 A/T 114 rs369150143 0.4784 None gnomAD-3.1.2 3.95E-05
17228 82 A/T 114 rs369150143 0.4784 None 1000 genomes 1.99681E-04
17228 82 A/T 114 rs369150143 0.4784 None gnomAD-4.0.0 4.52814E-05
17228 82 A/V 114 rs370644359 0.4784 None gnomAD-2.1.1 7.88E-05
17228 82 A/V 114 rs370644359 0.4784 None gnomAD-3.1.2 1.58003E-04
17228 82 A/V 114 rs370644359 0.4784 None gnomAD-4.0.0 1.0918E-04
17229 83 G/D 115 None 0.1870 None gnomAD-4.0.0 6.85114E-07
17229 83 G/V 115 rs1471919203 0.1870 None gnomAD-2.1.1 4.04E-06
17229 83 G/V 115 rs1471919203 0.1870 None gnomAD-4.0.0 2.05534E-06
17230 84 I/V 117 None 0.4349 None gnomAD-4.0.0 1.59666E-06
17231 85 S/N 118 rs944587802 0.0697 None gnomAD-3.1.2 6.58E-06
17231 85 S/N 118 rs944587802 0.0697 None gnomAD-4.0.0 4.06015E-06
17231 85 S/T 118 rs944587802 0.0697 None gnomAD-4.0.0 1.20032E-06
17232 86 E/K 119 rs765280689 0.5581 None gnomAD-2.1.1 4.05E-06
17232 86 E/K 119 rs765280689 0.5581 None gnomAD-4.0.0 6.85872E-07
17232 86 E/V 119 None 0.5581 None gnomAD-4.0.0 1.59989E-06
17233 87 P/L 120 rs776803516 0.2325 None gnomAD-2.1.1 2.43E-05
17233 87 P/L 120 rs776803516 0.2325 None gnomAD-4.0.0 3.431E-06
17233 87 P/S 120 rs761840475 0.2325 None gnomAD-2.1.1 4.05E-06
17233 87 P/S 120 rs761840475 0.2325 None gnomAD-3.1.2 6.58E-06
17233 87 P/S 120 rs761840475 0.2325 None gnomAD-4.0.0 1.86372E-06
17233 87 P/T 120 rs761840475 0.2325 None gnomAD-2.1.1 8.11E-06
17233 87 P/T 120 rs761840475 0.2325 None gnomAD-4.0.0 8.91762E-06
17234 88 S/A 121 None 0.1251 None gnomAD-4.0.0 3.20818E-06
17234 88 S/Y 121 rs768996750 0.1251 None gnomAD-2.1.1 4.06E-06
17235 89 R/P 122 None 0.9674 None gnomAD-4.0.0 5.49811E-06
17235 89 R/Q 122 rs573695008 0.9674 None gnomAD-2.1.1 1.52042E-04
17235 89 R/Q 122 rs573695008 0.9674 None gnomAD-3.1.2 6.59E-05
17235 89 R/Q 122 rs573695008 0.9674 None 1000 genomes 1.99681E-04
17235 89 R/Q 122 rs573695008 0.9674 None gnomAD-4.0.0 4.54258E-05
17235 89 R/W 122 rs373860372 0.9674 None gnomAD-2.1.1 1.22E-05
17235 89 R/W 122 rs373860372 0.9674 None gnomAD-3.1.2 6.58E-06
17235 89 R/W 122 rs373860372 0.9674 None gnomAD-4.0.0 9.9522E-06
17236 90 A/P 123 rs1208923941 0.2752 None gnomAD-2.1.1 4.09E-06
17236 90 A/P 123 rs1208923941 0.2752 None gnomAD-3.1.2 6.58E-06
17236 90 A/P 123 rs1208923941 0.2752 None gnomAD-4.0.0 3.73511E-06
17236 90 A/T 123 None 0.2752 None gnomAD-4.0.0 2.06259E-06
17236 90 A/V 123 rs1041202552 0.2752 None gnomAD-4.0.0 4.83036E-06
17237 91 T/A 124 rs1353786897 0.1538 None gnomAD-2.1.1 4.11E-06
17237 91 T/I 124 rs556967635 0.1538 None gnomAD-2.1.1 9.45E-05
17237 91 T/I 124 rs556967635 0.1538 None gnomAD-3.1.2 1.97E-05
17237 91 T/I 124 rs556967635 0.1538 None 1000 genomes 1.99681E-04
17237 91 T/I 124 rs556967635 0.1538 None gnomAD-4.0.0 3.9276E-05
17237 91 T/P 124 None 0.1538 None gnomAD-4.0.0 2.40064E-06
17238 92 P/A 125 rs773035917 0.6361 None gnomAD-2.1.1 4.12E-06
17238 92 P/A 125 rs773035917 0.6361 None gnomAD-4.0.0 3.44476E-06
17238 92 P/S 125 rs773035917 0.6361 None gnomAD-2.1.1 6.2E-05
17238 92 P/S 125 rs773035917 0.6361 None gnomAD-3.1.2 1.11892E-04
17238 92 P/S 125 rs773035917 0.6361 None gnomAD-4.0.0 5.11409E-05
17238 92 P/T 125 None 0.6361 None gnomAD-2.1.1 4.12E-06
17240 94 T/I 127 rs1295961462 0.2718 None gnomAD-2.1.1 4.14E-06
17240 94 T/I 127 rs1295961462 0.2718 None gnomAD-4.0.0 4.14133E-06
17241 95 K/R 129 None 0.4080 None gnomAD-4.0.0 6.92065E-07
17242 96 A/D 130 rs769598894 0.0635 None gnomAD-2.1.1 4.2E-06
17242 96 A/D 130 rs769598894 0.0635 None gnomAD-4.0.0 3.27304E-06
17244 98 D/E 132 None 0.5826 None gnomAD-4.0.0 6.00161E-06