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

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2174 1 I/M 1 rs1414401674 0.3177 None gnomAD-2.1.1 7.98E-06
2174 1 I/M 1 rs1414401674 0.3177 None gnomAD-4.0.0 1.36834E-06
2174 1 I/V 1 rs1171508892 0.3177 None gnomAD-2.1.1 3.99E-06
2174 1 I/V 1 rs1171508892 0.3177 None gnomAD-4.0.0 3.18193E-06
2176 3 F/L 3 rs1423674252 0.1895 None gnomAD-2.1.1 7.09E-06
2176 3 F/L 3 rs1423674252 0.1895 None gnomAD-3.1.2 1.31E-05
2176 3 F/L 3 rs1423674252 0.1895 None gnomAD-4.0.0 5.12319E-06
2177 4 T/I 4 None 0.4093 None gnomAD-4.0.0 2.05244E-06
2178 5 Q/R 5 None 0.3709 None gnomAD-4.0.0 1.20032E-06
2179 6 E/V 7 None 0.6867 None gnomAD-4.0.0 1.59088E-06
2182 9 D/V 11 None 0.4895 None gnomAD-4.0.0 1.59085E-06
2183 10 V/I 13 rs940814498 0.1920 None gnomAD-2.1.1 1.06E-05
2183 10 V/I 13 rs940814498 0.1920 None gnomAD-3.1.2 3.94E-05
2183 10 V/I 13 rs940814498 0.1920 None gnomAD-4.0.0 8.67516E-06
2184 11 V/A 14 None 0.4947 None gnomAD-4.0.0 1.59088E-06
2185 12 A/P 16 rs367653049 0.1814 None gnomAD-3.1.2 6.57E-06
2185 12 A/P 16 rs367653049 0.1814 None gnomAD-4.0.0 6.57462E-06
2189 16 D/Y 25 rs1252868552 0.3261 None gnomAD-4.0.0 1.20033E-06
2190 17 T/A 26 rs1204873968 0.8239 None gnomAD-2.1.1 3.99E-06
2190 17 T/A 26 rs1204873968 0.8239 None gnomAD-3.1.2 6.57E-06
2190 17 T/A 26 rs1204873968 0.8239 None gnomAD-4.0.0 2.47841E-06
2190 17 T/I 26 rs767577772 0.8239 None gnomAD-2.1.1 1.2E-05
2190 17 T/I 26 rs767577772 0.8239 None gnomAD-3.1.2 6.57E-06
2190 17 T/I 26 rs767577772 0.8239 None gnomAD-4.0.0 3.84227E-06
2191 18 M/V 27 rs760003993 0.4103 None gnomAD-2.1.1 1.2E-05
2191 18 M/V 27 rs760003993 0.4103 None gnomAD-3.1.2 1.31E-05
2191 18 M/V 27 rs760003993 0.4103 None gnomAD-4.0.0 4.33728E-06
2192 19 A/E 28 None 0.1833 None gnomAD-4.0.0 1.20033E-06
2192 19 A/T 28 rs774574739 0.1833 None gnomAD-2.1.1 2.79E-05
2192 19 A/T 28 rs774574739 0.1833 None gnomAD-3.1.2 9.21E-05
2192 19 A/T 28 rs774574739 0.1833 None gnomAD-4.0.0 2.43371E-05
2193 20 T/A 29 rs147148170 0.2968 None gnomAD-2.1.1 3.99E-06
2193 20 T/A 29 rs147148170 0.2968 None gnomAD-3.1.2 6.57E-06
2193 20 T/A 29 rs147148170 0.2968 None gnomAD-4.0.0 6.57082E-06
2193 20 T/I 29 None 0.2968 None gnomAD-4.0.0 1.36826E-06
2193 20 T/N 29 rs1574640739 0.2968 None gnomAD-4.0.0 2.05239E-06
2195 22 E/G 31 rs202032875 0.3495 None gnomAD-2.1.1 1.94897E-04
2195 22 E/G 31 rs202032875 0.3495 None gnomAD-3.1.2 2.10286E-04
2195 22 E/G 31 rs202032875 0.3495 None gnomAD-4.0.0 2.67052E-04
2196 23 C/R 33 None 0.0820 None gnomAD-4.0.0 1.20032E-06
2196 23 C/S 33 None 0.0820 None gnomAD-4.0.0 1.20032E-06
2196 23 C/Y 33 rs878854326 0.0820 None gnomAD-2.1.1 7.09E-06
2196 23 C/Y 33 rs878854326 0.0820 None gnomAD-3.1.2 1.31E-05
2196 23 C/Y 33 rs878854326 0.0820 None gnomAD-4.0.0 6.40379E-06
2197 24 E/K 34 rs139329751 0.1672 None gnomAD-2.1.1 3.99E-06
2197 24 E/K 34 rs139329751 0.1672 None gnomAD-4.0.0 3.18157E-06
2198 25 T/A 35 None 0.0920 None gnomAD-4.0.0 1.36823E-06
2198 25 T/I 35 rs886038879 0.0920 None gnomAD-2.1.1 3.19E-05
2198 25 T/I 35 rs886038879 0.0920 None gnomAD-3.1.2 6.57E-06
2198 25 T/I 35 rs886038879 0.0920 None gnomAD-4.0.0 2.56157E-06
2198 25 T/S 35 None 0.0920 None gnomAD-4.0.0 6.84115E-07
2200 27 E/K 41 rs1378587847 0.3159 None gnomAD-2.1.1 3.99E-06
2200 27 E/K 41 rs1378587847 0.3159 None gnomAD-4.0.0 6.84119E-06
2201 28 P/S 42 rs763426070 0.3009 None gnomAD-2.1.1 7.97E-06
2202 29 F/L 43 None 0.6218 None gnomAD-4.0.0 1.20032E-06
2202 29 F/S 43 rs773658956 0.6218 None gnomAD-2.1.1 3.99E-06
2202 29 F/S 43 rs773658956 0.6218 None gnomAD-4.0.0 7.20193E-06
2203 30 V/A 44 rs746433556 0.2144 None gnomAD-2.1.1 7.97E-06
2203 30 V/A 44 rs746433556 0.2144 None gnomAD-3.1.2 5.26E-05
2203 30 V/A 44 rs746433556 0.2144 None gnomAD-4.0.0 9.91375E-06
2203 30 V/F 44 rs768181882 0.2144 None gnomAD-2.1.1 3.99E-06
2203 30 V/F 44 rs768181882 0.2144 None gnomAD-4.0.0 2.73647E-06
2203 30 V/I 44 rs768181882 0.2144 None gnomAD-2.1.1 3.99E-06
2203 30 V/I 44 rs768181882 0.2144 None gnomAD-3.1.2 6.57E-06
2203 30 V/I 44 rs768181882 0.2144 None gnomAD-4.0.0 6.57099E-06
2204 31 K/E 45 rs1466089767 0.8173 None gnomAD-4.0.0 2.05233E-06
2204 31 K/N 45 rs1060500448 0.8173 None gnomAD-2.1.1 3.98E-06
2204 31 K/N 45 rs1060500448 0.8173 None gnomAD-3.1.2 6.57E-06
2204 31 K/N 45 rs1060500448 0.8173 None gnomAD-4.0.0 7.68421E-06
2205 32 V/M 46 rs2154345518 0.2222 None gnomAD-3.1.2 6.57E-06
2205 32 V/M 46 rs2154345518 0.2222 None gnomAD-4.0.0 6.56556E-06
2206 33 K/R 47 None 0.2991 None gnomAD-4.0.0 1.59074E-06
2208 35 Y/C 49 rs1186847832 0.1975 None gnomAD-3.1.2 6.57E-06
2208 35 Y/C 49 rs1186847832 0.1975 None gnomAD-4.0.0 5.07445E-06
2209 36 K/Q 50 rs1260981476 0.1400 None gnomAD-4.0.0 1.59075E-06
2210 37 D/N 51 rs2154345509 0.8438 None gnomAD-4.0.0 1.20032E-06
2211 38 G/S 52 rs779819023 0.3983 None gnomAD-2.1.1 7.97E-06
2211 38 G/S 52 rs779819023 0.3983 None gnomAD-4.0.0 3.18155E-06
2211 38 G/V 52 None 0.3983 None gnomAD-4.0.0 1.59077E-06
2212 39 M/T 55 rs2092055359 0.6940 None gnomAD-3.1.2 6.57E-06
2212 39 M/T 55 rs2092055359 0.6940 None gnomAD-4.0.0 6.57039E-06
2212 39 M/V 55 rs771623139 0.6940 None gnomAD-2.1.1 1.19E-05
2212 39 M/V 55 rs771623139 0.6940 None gnomAD-4.0.0 7.95391E-06
2213 40 E/D 56 rs745719077 0.2974 None gnomAD-2.1.1 1.42E-05
2213 40 E/D 56 rs745719077 0.2974 None gnomAD-3.1.2 1.97E-05
2213 40 E/D 56 rs745719077 0.2974 None gnomAD-4.0.0 1.85881E-06
2214 41 V/I 58 rs2092054706 0.1514 None gnomAD-4.0.0 1.59077E-06
2215 42 H/R 59 rs778552915 0.7508 None gnomAD-2.1.1 3.98E-06
2215 42 H/R 59 rs778552915 0.7508 None gnomAD-4.0.0 1.59074E-06
2216 43 E/D 70 None 0.6129 None gnomAD-4.0.0 1.59077E-06
2217 44 G/A 73 rs146236689 0.3486 None gnomAD-2.1.1 3.98E-06
2217 44 G/A 73 rs146236689 0.3486 None gnomAD-4.0.0 2.05236E-06
2217 44 G/R 73 None 0.3486 None gnomAD-4.0.0 2.05236E-06
2218 45 D/G 111 None 1.1819 None gnomAD-4.0.0 2.40064E-06
2219 46 K/Q 115 rs1292302676 0.1696 None gnomAD-2.1.1 3.19E-05
2219 46 K/Q 115 rs1292302676 0.1696 None gnomAD-3.1.2 6.57E-06
2219 46 K/Q 115 rs1292302676 0.1696 None gnomAD-4.0.0 3.84199E-06
2219 46 K/R 115 rs1482793298 0.1696 None gnomAD-2.1.1 3.98E-06
2219 46 K/R 115 rs1482793298 0.1696 None gnomAD-4.0.0 1.59078E-06
2220 47 Y/C 121 None 0.2244 None gnomAD-4.0.0 1.20032E-06
2220 47 Y/H 121 rs1235706679 0.2244 None gnomAD-2.1.1 3.98E-06
2220 47 Y/H 121 rs1235706679 0.2244 None gnomAD-4.0.0 4.10473E-06
2221 48 R/K 122 None 0.7173 None gnomAD-4.0.0 1.5908E-06
2222 49 M/K 123 None 0.2853 None gnomAD-4.0.0 6.84119E-07
2222 49 M/T 123 rs757071471 0.2853 None gnomAD-2.1.1 1.59E-05
2222 49 M/T 123 rs757071471 0.2853 None gnomAD-4.0.0 2.73648E-06
2222 49 M/V 123 rs1212976670 0.2853 None gnomAD-2.1.1 3.98E-06
2222 49 M/V 123 rs1212976670 0.2853 None gnomAD-4.0.0 1.59079E-06
2223 50 H/L 125 rs372979075 0.4178 None gnomAD-2.1.1 6.72E-05
2223 50 H/L 125 rs372979075 0.4178 None gnomAD-3.1.2 5.26E-05
2223 50 H/L 125 rs372979075 0.4178 None 1000 genomes 3.99361E-04
2223 50 H/L 125 rs372979075 0.4178 None gnomAD-4.0.0 2.35436E-05
2223 50 H/Q 125 rs1237315602 0.4178 None gnomAD-2.1.1 3.98E-06
2223 50 H/Q 125 rs1237315602 0.4178 None gnomAD-4.0.0 1.59082E-06
2223 50 H/R 125 None 0.4178 None gnomAD-4.0.0 6.84121E-07
2224 51 S/C 127 None 0.3839 None gnomAD-4.0.0 1.20032E-06
2225 52 D/N 130 None 0.6495 None gnomAD-4.0.0 1.20032E-06
2226 53 R/K 131 rs370438618 0.6391 None gnomAD-2.1.1 1.19E-05
2226 53 R/K 131 rs370438618 0.6391 None gnomAD-3.1.2 6.57E-06
2226 53 R/K 131 rs370438618 0.6391 None gnomAD-4.0.0 7.43544E-06
2228 55 V/A 135 rs752706070 0.1828 None gnomAD-2.1.1 7.96E-06
2228 55 V/A 135 rs752706070 0.1828 None gnomAD-3.1.2 1.31E-05
2228 55 V/A 135 rs752706070 0.1828 None gnomAD-4.0.0 4.95711E-06
2228 55 V/F 135 None 0.1828 None gnomAD-4.0.0 1.20032E-06
2228 55 V/G 135 None 0.1828 None gnomAD-4.0.0 6.84139E-07
2228 55 V/I 135 None 0.1828 None gnomAD-4.0.0 1.20032E-06
2229 56 H/Y 136 rs56851316 0.1271 None gnomAD-2.1.1 3.98E-06
2229 56 H/Y 136 rs56851316 0.1271 None gnomAD-3.1.2 6.57E-06
2229 56 H/Y 136 rs56851316 0.1271 None 1000 genomes 1.99681E-04
2229 56 H/Y 136 rs56851316 0.1271 None gnomAD-4.0.0 2.56119E-06
2230 57 F/C 137 None 0.1797 None gnomAD-4.0.0 6.84128E-07
2231 58 L/F 138 None 0.0784 None gnomAD-4.0.0 1.59083E-06
2232 59 S/F 139 rs377098846 0.1485 None gnomAD-2.1.1 3.98E-06
2233 60 I/T 140 rs1364650008 0.0867 None gnomAD-2.1.1 7.96E-06
2233 60 I/T 140 rs1364650008 0.0867 None gnomAD-4.0.0 4.7726E-06
2233 60 I/V 140 rs1574638831 0.0867 None gnomAD-4.0.0 2.05239E-06
2234 61 L/M 141 rs766750289 0.2783 None gnomAD-2.1.1 1.59E-05
2234 61 L/M 141 rs766750289 0.2783 None gnomAD-3.1.2 1.31E-05
2234 61 L/M 141 rs766750289 0.2783 None gnomAD-4.0.0 4.33727E-06
2234 61 L/P 141 rs534604830 0.2783 None gnomAD-2.1.1 7.96E-06
2234 61 L/P 141 rs534604830 0.2783 None gnomAD-3.1.2 6.57E-06
2234 61 L/P 141 rs534604830 0.2783 None 1000 genomes 1.99681E-04
2234 61 L/P 141 rs534604830 0.2783 None gnomAD-4.0.0 2.56096E-06
2234 61 L/Q 141 None 0.2783 None gnomAD-4.0.0 1.59084E-06
2235 62 T/I 143 rs1381061706 0.6356 None gnomAD-4.0.0 6.8413E-07
2235 62 T/S 143 None 0.6356 None gnomAD-4.0.0 6.8413E-07
2236 63 I/F 144 rs1328042181 0.1183 None gnomAD-2.1.1 3.18E-05
2236 63 I/F 144 rs1328042181 0.1183 None gnomAD-3.1.2 6.57E-06
2236 63 I/F 144 rs1328042181 0.1183 None gnomAD-4.0.0 6.57237E-06
2236 63 I/S 144 None 0.1183 None gnomAD-4.0.0 6.84131E-07
2236 63 I/T 144 rs1189735228 0.1183 None gnomAD-2.1.1 7.96E-06
2236 63 I/T 144 rs1189735228 0.1183 None gnomAD-4.0.0 2.73652E-06
2236 63 I/V 144 rs1328042181 0.1183 None gnomAD-4.0.0 3.18224E-06
2237 64 D/V 145 None 0.3003 None gnomAD-4.0.0 1.59083E-06
2238 65 T/A 146 rs747377115 0.6973 None gnomAD-2.1.1 3.98E-06
2238 65 T/A 146 rs747377115 0.6973 None gnomAD-4.0.0 6.84129E-07
2238 65 T/K 146 None 0.6973 None gnomAD-4.0.0 6.84146E-07
2238 65 T/M 146 rs201284459 0.6973 None gnomAD-2.1.1 1.62834E-04
2238 65 T/M 146 rs201284459 0.6973 None gnomAD-3.1.2 5.26E-05
2238 65 T/M 146 rs201284459 0.6973 None gnomAD-4.0.0 1.17733E-04
2238 65 T/P 146 rs747377115 0.6973 None gnomAD-4.0.0 1.23143E-05
2238 65 T/R 146 rs201284459 0.6973 None gnomAD-2.1.1 2.39E-05
2238 65 T/R 146 rs201284459 0.6973 None gnomAD-3.1.2 6.57E-06
2238 65 T/R 146 rs201284459 0.6973 None 1000 genomes 1.99681E-04
2238 65 T/R 146 rs201284459 0.6973 None gnomAD-4.0.0 1.11528E-05
2239 66 S/A 148 None 0.4842 None gnomAD-4.0.0 1.59081E-06
2239 66 S/F 148 rs1486541995 0.4842 None gnomAD-2.1.1 7.08E-06
2239 66 S/F 148 rs1486541995 0.4842 None gnomAD-3.1.2 6.57E-06
2239 66 S/F 148 rs1486541995 0.4842 None gnomAD-4.0.0 3.71776E-06
2240 67 D/E 149 rs149404931 0.1199 None gnomAD-2.1.1 1.42E-05
2240 67 D/E 149 rs149404931 0.1199 None gnomAD-3.1.2 3.94E-05
2240 67 D/E 149 rs149404931 0.1199 None gnomAD-4.0.0 3.94151E-05
2240 67 D/G 149 rs745532581 0.1199 None gnomAD-2.1.1 7.08E-06
2240 67 D/G 149 rs745532581 0.1199 None gnomAD-3.1.2 6.57E-06
2240 67 D/G 149 rs745532581 0.1199 None gnomAD-4.0.0 1.85904E-06
2240 67 D/N 149 rs769846959 0.1199 None gnomAD-2.1.1 2.83E-05
2240 67 D/N 149 rs769846959 0.1199 None gnomAD-3.1.2 1.31E-05
2240 67 D/N 149 rs769846959 0.1199 None gnomAD-4.0.0 2.43354E-05
2241 68 A/D 151 None 0.3199 None gnomAD-4.0.0 1.59088E-06
2243 70 D/Y 153 rs138787974 0.5275 None gnomAD-2.1.1 2.66611E-03
2243 70 D/Y 153 rs138787974 0.5275 None gnomAD-3.1.2 7.17225E-03
2243 70 D/Y 153 rs138787974 0.5275 None 1000 genomes 8.38658E-03
2243 70 D/Y 153 rs138787974 0.5275 None gnomAD-4.0.0 1.39629E-03
2244 71 Y/C 154 None 0.0953 None gnomAD-4.0.0 8.40229E-06
2245 72 S/G 155 None 0.1486 None gnomAD-4.0.0 2.40065E-06
2245 72 S/N 155 rs749033972 0.1486 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0650 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0650 None gnomAD-3.1.2 6.57E-06
2246 73 C/G 156 rs1484766954 0.0650 None gnomAD-4.0.0 3.84249E-06
2251 78 D/E 162 None 0.4024 None gnomAD-4.0.0 1.36839E-06
2251 78 D/H 162 rs942953757 0.4024 None gnomAD-2.1.1 3.99E-06
2251 78 D/H 162 rs942953757 0.4024 None gnomAD-4.0.0 2.73742E-06
2251 78 D/N 162 rs942953757 0.4024 None gnomAD-3.1.2 6.57E-06
2251 78 D/N 162 rs942953757 0.4024 None gnomAD-4.0.0 6.57263E-06
2251 78 D/V 162 None 0.4024 None gnomAD-4.0.0 1.20032E-06
2253 80 N/K 165 rs1296864074 0.7567 None gnomAD-2.1.1 7.97E-06
2253 80 N/K 165 rs1296864074 0.7567 None gnomAD-4.0.0 3.18242E-06
2254 81 V/D 166 None 0.2444 None gnomAD-4.0.0 1.59473E-06
2254 81 V/I 166 rs1401971730 0.2444 None gnomAD-2.1.1 3.99E-06
2254 81 V/I 166 rs1401971730 0.2444 None gnomAD-4.0.0 1.3685E-06
2255 82 K/N 168 None 0.4686 None gnomAD-4.0.0 3.43349E-06
2255 82 K/R 168 None 0.4686 None gnomAD-4.0.0 1.59126E-06
2256 83 T/A 169 rs1385805778 0.1072 None gnomAD-2.1.1 3.99E-06
2256 83 T/M 169 rs780758720 0.1072 None gnomAD-2.1.1 1.77E-05
2256 83 T/M 169 rs780758720 0.1072 None gnomAD-3.1.2 1.97E-05
2256 83 T/M 169 rs780758720 0.1072 None gnomAD-4.0.0 2.72676E-05
2257 84 T/A 171 None 0.3729 None gnomAD-4.0.0 1.59137E-06
2257 84 T/I 171 None 0.3729 None gnomAD-4.0.0 6.84239E-07
2257 84 T/S 171 rs755999681 0.3729 None gnomAD-2.1.1 7.09E-05
2257 84 T/S 171 rs755999681 0.3729 None gnomAD-3.1.2 3.94E-05
2257 84 T/S 171 rs755999681 0.3729 None gnomAD-4.0.0 1.73518E-05
2258 85 A/V 172 rs72647881 0.1027 None gnomAD-2.1.1 7.98E-06
2258 85 A/V 172 rs72647881 0.1027 None gnomAD-3.1.2 1.97E-05
2258 85 A/V 172 rs72647881 0.1027 None gnomAD-4.0.0 5.12501E-06
2259 86 K/E 173 None 0.4435 None gnomAD-4.0.0 2.05276E-06
2259 86 K/Q 173 None 0.4435 None gnomAD-4.0.0 6.84252E-07
2260 87 L/I 174 rs370058135 0.1093 None gnomAD-2.1.1 2E-05
2260 87 L/I 174 rs370058135 0.1093 None gnomAD-4.0.0 4.78987E-06
2261 88 I/L 175 rs755035176 0.3821 None gnomAD-2.1.1 3.99E-06
2261 88 I/L 175 rs755035176 0.3821 None gnomAD-3.1.2 6.57E-06
2261 88 I/L 175 rs755035176 0.3821 None gnomAD-4.0.0 1.23939E-06
2261 88 I/T 175 rs751757338 0.3821 None gnomAD-2.1.1 7.1E-06
2261 88 I/T 175 rs751757338 0.3821 None gnomAD-3.1.2 6.57E-06
2261 88 I/T 175 rs751757338 0.3821 None gnomAD-4.0.0 3.7184E-06
2261 88 I/V 175 None 0.3821 None gnomAD-4.0.0 6.84276E-07
2262 89 V/I 177 rs1430183288 0.2503 None gnomAD-2.1.1 3.99E-06
2262 89 V/I 177 rs1430183288 0.2503 None gnomAD-4.0.0 1.59173E-06