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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
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 G A V V E F V K E L Q D I E V P E S Y S G E L E C I V S P E N I E G K W Y H N D V E L K S N G K Y T I T S R R G R Q N L T V K D V T K E D Q G E Y S F V I D G K K T T C K L K M K P
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 0.4763 None gnomAD-2.1.1 7.98E-06
2174 1 I/M 1 rs1414401674 0.4763 None gnomAD-4.0.0 1.36834E-06
2174 1 I/V 1 rs1171508892 0.4763 None gnomAD-2.1.1 3.99E-06
2174 1 I/V 1 rs1171508892 0.4763 None gnomAD-4.0.0 3.18193E-06
2176 3 F/L 3 rs1423674252 0.1818 None gnomAD-2.1.1 7.09E-06
2176 3 F/L 3 rs1423674252 0.1818 None gnomAD-3.1.2 1.31E-05
2176 3 F/L 3 rs1423674252 0.1818 None gnomAD-4.0.0 5.12319E-06
2177 4 T/I 4 None 0.4114 None gnomAD-4.0.0 2.05244E-06
2178 5 Q/R 5 None 0.3513 None gnomAD-4.0.0 1.20032E-06
2179 6 E/V 7 None 0.6871 None gnomAD-4.0.0 1.59088E-06
2182 9 D/V 11 None 0.5418 None gnomAD-4.0.0 1.59085E-06
2183 10 V/I 13 rs940814498 0.1813 None gnomAD-2.1.1 1.06E-05
2183 10 V/I 13 rs940814498 0.1813 None gnomAD-3.1.2 3.94E-05
2183 10 V/I 13 rs940814498 0.1813 None gnomAD-4.0.0 8.67516E-06
2184 11 V/A 14 None 0.5275 None gnomAD-4.0.0 1.59088E-06
2185 12 A/P 16 rs367653049 0.1538 None gnomAD-3.1.2 6.57E-06
2185 12 A/P 16 rs367653049 0.1538 None gnomAD-4.0.0 6.57462E-06
2189 16 D/Y 25 rs1252868552 0.3639 None gnomAD-4.0.0 1.20033E-06
2190 17 T/A 26 rs1204873968 0.8225 None gnomAD-2.1.1 3.99E-06
2190 17 T/A 26 rs1204873968 0.8225 None gnomAD-3.1.2 6.57E-06
2190 17 T/A 26 rs1204873968 0.8225 None gnomAD-4.0.0 2.47841E-06
2190 17 T/I 26 rs767577772 0.8225 None gnomAD-2.1.1 1.2E-05
2190 17 T/I 26 rs767577772 0.8225 None gnomAD-3.1.2 6.57E-06
2190 17 T/I 26 rs767577772 0.8225 None gnomAD-4.0.0 3.84227E-06
2191 18 M/V 27 rs760003993 0.4177 None gnomAD-2.1.1 1.2E-05
2191 18 M/V 27 rs760003993 0.4177 None gnomAD-3.1.2 1.31E-05
2191 18 M/V 27 rs760003993 0.4177 None gnomAD-4.0.0 4.33728E-06
2192 19 A/E 28 None 0.1691 None gnomAD-4.0.0 1.20033E-06
2192 19 A/T 28 rs774574739 0.1691 None gnomAD-2.1.1 2.79E-05
2192 19 A/T 28 rs774574739 0.1691 None gnomAD-3.1.2 9.21E-05
2192 19 A/T 28 rs774574739 0.1691 None gnomAD-4.0.0 2.43371E-05
2193 20 T/A 29 rs147148170 0.2953 None gnomAD-2.1.1 3.99E-06
2193 20 T/A 29 rs147148170 0.2953 None gnomAD-3.1.2 6.57E-06
2193 20 T/A 29 rs147148170 0.2953 None gnomAD-4.0.0 6.57082E-06
2193 20 T/I 29 None 0.2953 None gnomAD-4.0.0 1.36826E-06
2193 20 T/N 29 rs1574640739 0.2953 None gnomAD-4.0.0 2.05239E-06
2195 22 E/G 31 rs202032875 0.3689 None gnomAD-2.1.1 1.94897E-04
2195 22 E/G 31 rs202032875 0.3689 None gnomAD-3.1.2 2.10286E-04
2195 22 E/G 31 rs202032875 0.3689 None gnomAD-4.0.0 2.67052E-04
2196 23 C/R 33 None 0.0776 None gnomAD-4.0.0 1.20032E-06
2196 23 C/S 33 None 0.0776 None gnomAD-4.0.0 1.20032E-06
2196 23 C/Y 33 rs878854326 0.0776 None gnomAD-2.1.1 7.09E-06
2196 23 C/Y 33 rs878854326 0.0776 None gnomAD-3.1.2 1.31E-05
2196 23 C/Y 33 rs878854326 0.0776 None gnomAD-4.0.0 6.40379E-06
2197 24 E/K 34 rs139329751 0.1917 None gnomAD-2.1.1 3.99E-06
2197 24 E/K 34 rs139329751 0.1917 None gnomAD-4.0.0 3.18157E-06
2198 25 T/A 35 None 0.0925 None gnomAD-4.0.0 1.36823E-06
2198 25 T/I 35 rs886038879 0.0925 None gnomAD-2.1.1 3.19E-05
2198 25 T/I 35 rs886038879 0.0925 None gnomAD-3.1.2 6.57E-06
2198 25 T/I 35 rs886038879 0.0925 None gnomAD-4.0.0 2.56157E-06
2198 25 T/S 35 None 0.0925 None gnomAD-4.0.0 6.84115E-07
2200 27 E/K 41 rs1378587847 0.4317 None gnomAD-2.1.1 3.99E-06
2200 27 E/K 41 rs1378587847 0.4317 None gnomAD-4.0.0 6.84119E-06
2201 28 P/S 42 rs763426070 0.2950 None gnomAD-2.1.1 7.97E-06
2202 29 F/L 43 None 0.6995 None gnomAD-4.0.0 1.20032E-06
2202 29 F/S 43 rs773658956 0.6995 None gnomAD-2.1.1 3.99E-06
2202 29 F/S 43 rs773658956 0.6995 None gnomAD-4.0.0 7.20193E-06
2203 30 V/A 44 rs746433556 0.1975 None gnomAD-2.1.1 7.97E-06
2203 30 V/A 44 rs746433556 0.1975 None gnomAD-3.1.2 5.26E-05
2203 30 V/A 44 rs746433556 0.1975 None gnomAD-4.0.0 9.91375E-06
2203 30 V/F 44 rs768181882 0.1975 None gnomAD-2.1.1 3.99E-06
2203 30 V/F 44 rs768181882 0.1975 None gnomAD-4.0.0 2.73647E-06
2203 30 V/I 44 rs768181882 0.1975 None gnomAD-2.1.1 3.99E-06
2203 30 V/I 44 rs768181882 0.1975 None gnomAD-3.1.2 6.57E-06
2203 30 V/I 44 rs768181882 0.1975 None gnomAD-4.0.0 6.57099E-06
2204 31 K/E 45 rs1466089767 0.7904 None gnomAD-4.0.0 2.05233E-06
2204 31 K/N 45 rs1060500448 0.7904 None gnomAD-2.1.1 3.98E-06
2204 31 K/N 45 rs1060500448 0.7904 None gnomAD-3.1.2 6.57E-06
2204 31 K/N 45 rs1060500448 0.7904 None gnomAD-4.0.0 7.68421E-06
2205 32 V/M 46 rs2154345518 0.2002 None gnomAD-3.1.2 6.57E-06
2205 32 V/M 46 rs2154345518 0.2002 None gnomAD-4.0.0 6.56556E-06
2206 33 K/R 47 None 0.2157 None gnomAD-4.0.0 1.59074E-06
2208 35 Y/C 49 rs1186847832 0.1697 None gnomAD-3.1.2 6.57E-06
2208 35 Y/C 49 rs1186847832 0.1697 None gnomAD-4.0.0 5.07445E-06
2209 36 K/Q 50 rs1260981476 0.1244 None gnomAD-4.0.0 1.59075E-06
2210 37 D/N 51 rs2154345509 0.7570 None gnomAD-4.0.0 1.20032E-06
2211 38 G/S 52 rs779819023 0.3858 None gnomAD-2.1.1 7.97E-06
2211 38 G/S 52 rs779819023 0.3858 None gnomAD-4.0.0 3.18155E-06
2211 38 G/V 52 None 0.3858 None gnomAD-4.0.0 1.59077E-06
2212 39 M/T 55 rs2092055359 0.6880 None gnomAD-3.1.2 6.57E-06
2212 39 M/T 55 rs2092055359 0.6880 None gnomAD-4.0.0 6.57039E-06
2212 39 M/V 55 rs771623139 0.6880 None gnomAD-2.1.1 1.19E-05
2212 39 M/V 55 rs771623139 0.6880 None gnomAD-4.0.0 7.95391E-06
2213 40 E/D 56 rs745719077 0.2787 None gnomAD-2.1.1 1.42E-05
2213 40 E/D 56 rs745719077 0.2787 None gnomAD-3.1.2 1.97E-05
2213 40 E/D 56 rs745719077 0.2787 None gnomAD-4.0.0 1.85881E-06
2214 41 V/I 58 rs2092054706 0.1367 None gnomAD-4.0.0 1.59077E-06
2215 42 H/R 59 rs778552915 0.7202 None gnomAD-2.1.1 3.98E-06
2215 42 H/R 59 rs778552915 0.7202 None gnomAD-4.0.0 1.59074E-06
2216 43 E/D 70 None 0.5697 None gnomAD-4.0.0 1.59077E-06
2217 44 G/A 73 rs146236689 0.3364 None gnomAD-2.1.1 3.98E-06
2217 44 G/A 73 rs146236689 0.3364 None gnomAD-4.0.0 2.05236E-06
2217 44 G/R 73 None 0.3364 None gnomAD-4.0.0 2.05236E-06
2218 45 D/G 111 None 1.1516 None gnomAD-4.0.0 2.40064E-06
2219 46 K/Q 115 rs1292302676 0.1489 None gnomAD-2.1.1 3.19E-05
2219 46 K/Q 115 rs1292302676 0.1489 None gnomAD-3.1.2 6.57E-06
2219 46 K/Q 115 rs1292302676 0.1489 None gnomAD-4.0.0 3.84199E-06
2219 46 K/R 115 rs1482793298 0.1489 None gnomAD-2.1.1 3.98E-06
2219 46 K/R 115 rs1482793298 0.1489 None gnomAD-4.0.0 1.59078E-06
2220 47 Y/C 121 None 0.1691 None gnomAD-4.0.0 1.20032E-06
2220 47 Y/H 121 rs1235706679 0.1691 None gnomAD-2.1.1 3.98E-06
2220 47 Y/H 121 rs1235706679 0.1691 None gnomAD-4.0.0 4.10473E-06
2221 48 R/K 122 None 0.6800 None gnomAD-4.0.0 1.5908E-06
2222 49 M/K 123 None 0.2422 None gnomAD-4.0.0 6.84119E-07
2222 49 M/T 123 rs757071471 0.2422 None gnomAD-2.1.1 1.59E-05
2222 49 M/T 123 rs757071471 0.2422 None gnomAD-4.0.0 2.73648E-06
2222 49 M/V 123 rs1212976670 0.2422 None gnomAD-2.1.1 3.98E-06
2222 49 M/V 123 rs1212976670 0.2422 None gnomAD-4.0.0 1.59079E-06
2223 50 H/L 125 rs372979075 0.3975 None gnomAD-2.1.1 6.72E-05
2223 50 H/L 125 rs372979075 0.3975 None gnomAD-3.1.2 5.26E-05
2223 50 H/L 125 rs372979075 0.3975 None 1000 genomes 3.99361E-04
2223 50 H/L 125 rs372979075 0.3975 None gnomAD-4.0.0 2.35436E-05
2223 50 H/Q 125 rs1237315602 0.3975 None gnomAD-2.1.1 3.98E-06
2223 50 H/Q 125 rs1237315602 0.3975 None gnomAD-4.0.0 1.59082E-06
2223 50 H/R 125 None 0.3975 None gnomAD-4.0.0 6.84121E-07
2224 51 S/C 127 None 0.4093 None gnomAD-4.0.0 1.20032E-06
2225 52 D/N 130 None 0.7059 None gnomAD-4.0.0 1.20032E-06
2226 53 R/K 131 rs370438618 0.6700 None gnomAD-2.1.1 1.19E-05
2226 53 R/K 131 rs370438618 0.6700 None gnomAD-3.1.2 6.57E-06
2226 53 R/K 131 rs370438618 0.6700 None gnomAD-4.0.0 7.43544E-06
2228 55 V/A 135 rs752706070 0.1984 None gnomAD-2.1.1 7.96E-06
2228 55 V/A 135 rs752706070 0.1984 None gnomAD-3.1.2 1.31E-05
2228 55 V/A 135 rs752706070 0.1984 None gnomAD-4.0.0 4.95711E-06
2228 55 V/F 135 None 0.1984 None gnomAD-4.0.0 1.20032E-06
2228 55 V/G 135 None 0.1984 None gnomAD-4.0.0 6.84139E-07
2228 55 V/I 135 None 0.1984 None gnomAD-4.0.0 1.20032E-06
2229 56 H/Y 136 rs56851316 0.1270 None gnomAD-2.1.1 3.98E-06
2229 56 H/Y 136 rs56851316 0.1270 None gnomAD-3.1.2 6.57E-06
2229 56 H/Y 136 rs56851316 0.1270 None 1000 genomes 1.99681E-04
2229 56 H/Y 136 rs56851316 0.1270 None gnomAD-4.0.0 2.56119E-06
2230 57 F/C 137 None 0.1844 None gnomAD-4.0.0 6.84128E-07
2231 58 L/F 138 None 0.0663 None gnomAD-4.0.0 1.59083E-06
2232 59 S/F 139 rs377098846 0.1315 None gnomAD-2.1.1 3.98E-06
2233 60 I/T 140 rs1364650008 0.0574 None gnomAD-2.1.1 7.96E-06
2233 60 I/T 140 rs1364650008 0.0574 None gnomAD-4.0.0 4.7726E-06
2233 60 I/V 140 rs1574638831 0.0574 None gnomAD-4.0.0 2.05239E-06
2234 61 L/M 141 rs766750289 0.2457 None gnomAD-2.1.1 1.59E-05
2234 61 L/M 141 rs766750289 0.2457 None gnomAD-3.1.2 1.31E-05
2234 61 L/M 141 rs766750289 0.2457 None gnomAD-4.0.0 4.33727E-06
2234 61 L/P 141 rs534604830 0.2457 None gnomAD-2.1.1 7.96E-06
2234 61 L/P 141 rs534604830 0.2457 None gnomAD-3.1.2 6.57E-06
2234 61 L/P 141 rs534604830 0.2457 None 1000 genomes 1.99681E-04
2234 61 L/P 141 rs534604830 0.2457 None gnomAD-4.0.0 2.56096E-06
2234 61 L/Q 141 None 0.2457 None gnomAD-4.0.0 1.59084E-06
2235 62 T/I 143 rs1381061706 0.6010 None gnomAD-4.0.0 6.8413E-07
2235 62 T/S 143 None 0.6010 None gnomAD-4.0.0 6.8413E-07
2236 63 I/F 144 rs1328042181 0.0856 None gnomAD-2.1.1 3.18E-05
2236 63 I/F 144 rs1328042181 0.0856 None gnomAD-3.1.2 6.57E-06
2236 63 I/F 144 rs1328042181 0.0856 None gnomAD-4.0.0 6.57237E-06
2236 63 I/S 144 None 0.0856 None gnomAD-4.0.0 6.84131E-07
2236 63 I/T 144 rs1189735228 0.0856 None gnomAD-2.1.1 7.96E-06
2236 63 I/T 144 rs1189735228 0.0856 None gnomAD-4.0.0 2.73652E-06
2236 63 I/V 144 rs1328042181 0.0856 None gnomAD-4.0.0 3.18224E-06
2237 64 D/V 145 None 0.2775 None gnomAD-4.0.0 1.59083E-06
2238 65 T/A 146 rs747377115 0.5724 None gnomAD-2.1.1 3.98E-06
2238 65 T/A 146 rs747377115 0.5724 None gnomAD-4.0.0 6.84129E-07
2238 65 T/K 146 None 0.5724 None gnomAD-4.0.0 6.84146E-07
2238 65 T/M 146 rs201284459 0.5724 None gnomAD-2.1.1 1.62834E-04
2238 65 T/M 146 rs201284459 0.5724 None gnomAD-3.1.2 5.26E-05
2238 65 T/M 146 rs201284459 0.5724 None gnomAD-4.0.0 1.17733E-04
2238 65 T/P 146 rs747377115 0.5724 None gnomAD-4.0.0 1.23143E-05
2238 65 T/R 146 rs201284459 0.5724 None gnomAD-2.1.1 2.39E-05
2238 65 T/R 146 rs201284459 0.5724 None gnomAD-3.1.2 6.57E-06
2238 65 T/R 146 rs201284459 0.5724 None 1000 genomes 1.99681E-04
2238 65 T/R 146 rs201284459 0.5724 None gnomAD-4.0.0 1.11528E-05
2239 66 S/A 148 None 0.4167 None gnomAD-4.0.0 1.59081E-06
2239 66 S/F 148 rs1486541995 0.4167 None gnomAD-2.1.1 7.08E-06
2239 66 S/F 148 rs1486541995 0.4167 None gnomAD-3.1.2 6.57E-06
2239 66 S/F 148 rs1486541995 0.4167 None gnomAD-4.0.0 3.71776E-06
2240 67 D/E 149 rs149404931 0.0907 None gnomAD-2.1.1 1.42E-05
2240 67 D/E 149 rs149404931 0.0907 None gnomAD-3.1.2 3.94E-05
2240 67 D/E 149 rs149404931 0.0907 None gnomAD-4.0.0 3.94151E-05
2240 67 D/G 149 rs745532581 0.0907 None gnomAD-2.1.1 7.08E-06
2240 67 D/G 149 rs745532581 0.0907 None gnomAD-3.1.2 6.57E-06
2240 67 D/G 149 rs745532581 0.0907 None gnomAD-4.0.0 1.85904E-06
2240 67 D/N 149 rs769846959 0.0907 None gnomAD-2.1.1 2.83E-05
2240 67 D/N 149 rs769846959 0.0907 None gnomAD-3.1.2 1.31E-05
2240 67 D/N 149 rs769846959 0.0907 None gnomAD-4.0.0 2.43354E-05
2241 68 A/D 151 None 0.2960 None gnomAD-4.0.0 1.59088E-06
2243 70 D/Y 153 rs138787974 0.4266 None gnomAD-2.1.1 2.66611E-03
2243 70 D/Y 153 rs138787974 0.4266 None gnomAD-3.1.2 7.17225E-03
2243 70 D/Y 153 rs138787974 0.4266 None 1000 genomes 8.38658E-03
2243 70 D/Y 153 rs138787974 0.4266 None gnomAD-4.0.0 1.39629E-03
2244 71 Y/C 154 None 0.0775 None gnomAD-4.0.0 8.40229E-06
2245 72 S/G 155 None 0.1412 None gnomAD-4.0.0 2.40065E-06
2245 72 S/N 155 rs749033972 0.1412 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0578 None gnomAD-2.1.1 3.98E-06
2246 73 C/G 156 rs1484766954 0.0578 None gnomAD-3.1.2 6.57E-06
2246 73 C/G 156 rs1484766954 0.0578 None gnomAD-4.0.0 3.84249E-06
2251 78 D/E 162 None 0.3995 None gnomAD-4.0.0 1.36839E-06
2251 78 D/H 162 rs942953757 0.3995 None gnomAD-2.1.1 3.99E-06
2251 78 D/H 162 rs942953757 0.3995 None gnomAD-4.0.0 2.73742E-06
2251 78 D/N 162 rs942953757 0.3995 None gnomAD-3.1.2 6.57E-06
2251 78 D/N 162 rs942953757 0.3995 None gnomAD-4.0.0 6.57263E-06
2251 78 D/V 162 None 0.3995 None gnomAD-4.0.0 1.20032E-06
2253 80 N/K 165 rs1296864074 0.7546 None gnomAD-2.1.1 7.97E-06
2253 80 N/K 165 rs1296864074 0.7546 None gnomAD-4.0.0 3.18242E-06
2254 81 V/D 166 None 0.2289 None gnomAD-4.0.0 1.59473E-06
2254 81 V/I 166 rs1401971730 0.2289 None gnomAD-2.1.1 3.99E-06
2254 81 V/I 166 rs1401971730 0.2289 None gnomAD-4.0.0 1.3685E-06
2255 82 K/N 168 None 0.5122 None gnomAD-4.0.0 3.43349E-06
2255 82 K/R 168 None 0.5122 None gnomAD-4.0.0 1.59126E-06
2256 83 T/A 169 rs1385805778 0.1027 None gnomAD-2.1.1 3.99E-06
2256 83 T/M 169 rs780758720 0.1027 None gnomAD-2.1.1 1.77E-05
2256 83 T/M 169 rs780758720 0.1027 None gnomAD-3.1.2 1.97E-05
2256 83 T/M 169 rs780758720 0.1027 None gnomAD-4.0.0 2.72676E-05
2257 84 T/A 171 None 0.3521 None gnomAD-4.0.0 1.59137E-06
2257 84 T/I 171 None 0.3521 None gnomAD-4.0.0 6.84239E-07
2257 84 T/S 171 rs755999681 0.3521 None gnomAD-2.1.1 7.09E-05
2257 84 T/S 171 rs755999681 0.3521 None gnomAD-3.1.2 3.94E-05
2257 84 T/S 171 rs755999681 0.3521 None gnomAD-4.0.0 1.73518E-05
2258 85 A/V 172 rs72647881 0.0971 None gnomAD-2.1.1 7.98E-06
2258 85 A/V 172 rs72647881 0.0971 None gnomAD-3.1.2 1.97E-05
2258 85 A/V 172 rs72647881 0.0971 None gnomAD-4.0.0 5.12501E-06
2259 86 K/E 173 None 0.4424 None gnomAD-4.0.0 2.05276E-06
2259 86 K/Q 173 None 0.4424 None gnomAD-4.0.0 6.84252E-07
2260 87 L/I 174 rs370058135 0.0894 None gnomAD-2.1.1 2E-05
2260 87 L/I 174 rs370058135 0.0894 None gnomAD-4.0.0 4.78987E-06
2261 88 I/L 175 rs755035176 0.4271 None gnomAD-2.1.1 3.99E-06
2261 88 I/L 175 rs755035176 0.4271 None gnomAD-3.1.2 6.57E-06
2261 88 I/L 175 rs755035176 0.4271 None gnomAD-4.0.0 1.23939E-06
2261 88 I/T 175 rs751757338 0.4271 None gnomAD-2.1.1 7.1E-06
2261 88 I/T 175 rs751757338 0.4271 None gnomAD-3.1.2 6.57E-06
2261 88 I/T 175 rs751757338 0.4271 None gnomAD-4.0.0 3.7184E-06
2261 88 I/V 175 None 0.4271 None gnomAD-4.0.0 6.84276E-07
2262 89 V/I 177 rs1430183288 0.1733 None gnomAD-2.1.1 3.99E-06
2262 89 V/I 177 rs1430183288 0.1733 None gnomAD-4.0.0 1.59173E-06