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dbSNP

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SNP linked to Gene (geneID:7023) Via Contig Annotation

rs# on all gene models to Batch Query
all rs# to file.

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_011522635.2minus strandXP_011520937.1reverseNT_010393.17GRCh38.p7<- currently shown
XM_011522633.2minus strandXP_011520935.1reverseNT_010393.17GRCh38.p7View snp on GeneModel
NM_003223.2minus strandNP_003214.1reverseNT_010393.17GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_010393.17XM_011522635.2XP_011520937.1reverseminus strand361, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Linkout Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
42573241994 rs996432825 N.D. -
42580571269 rs1380773783 N.D. CArg [R]1339
contig referenceT1339
42580591267 rs1295173992 N.D. missenseTLeu [L]2338
contig referenceCPro [P]2338
42580641242 rs766506107 0.000 -1330
42580641262 rs975295356 N.D. missenseCAsp [D]3336
contig referenceGGlu [E]3336
42580661260 rs1217477997 N.D. missenseALys [K]1336
contig referenceGGlu [E]1336
42580671259 rs141745578 0.001byClusterbyFreqWith1000GenomeData0.0002 synonymousAGly [G]3335
contig referenceGGly [G]3335
42580681258 rs745401284 0.000byFreq missenseAGlu [E]2335
contig referenceGGly [G]2335
42580691257 rs537940802 0.000byFreqWith1000GenomeData0.0004 missenseAArg [R]1335
missenseCArg [R]1335
contig referenceGGly [G]1335
42580701256 rs1265425649 N.D. missenseAGlu [E]3334
synonymousTAsp [D]3334
contig referenceCAsp [D]3334
42580711255 rs1485122173 N.D. missenseTVal [V]2334
contig referenceAAsp [D]2334
42580721254 rs950839372 N.D. missenseAAsn [N]1334
missenseTTyr [Y]1334
contig referenceGAsp [D]1334
42580761250 rs760511509 0.000byFreq synonymousASer [S]3332
synonymousCSer [S]3332
contig referenceGSer [S]3332
42580771249 rs911940515 N.D. missenseTLeu [L]2332
contig referenceCSer [S]2332
42580791247 rs558262049 0.000byFreqWith1000GenomeData0.0004 synonymousAPro [P]3331
contig referenceGPro [P]3331
42580801246 rs983509684 N.D. missenseTLeu [L]2331
contig referenceCPro [P]2331
42580821244 rs377389684 0.000byCluster missenseTAsp [D]3330
contig referenceGGlu [E]3330
42580841242 rs1471400880 N.D. missenseALys [K]1330
contig referenceGGlu [E]1330
42580881238 rs1427041427 N.D. synonymousAArg [R]3328
contig referenceGArg [R]3328
42580891237 rs1480080539 N.D. missenseAGln [Q]2328
contig referenceGArg [R]2328
42580911235 rs1176836294 N.D. synonymousTSer [S]3327
contig referenceCSer [S]3327
42580941232 rs1447216705 N.D. missenseCHis [H]3326
contig referenceGGln [Q]3326
42580961230 rs1407985703 N.D. nonsenseT1326
contig referenceCGln [Q]1326
42580971229 rs765504365 0.000byFreq missenseGGlu [E]3325
contig referenceCAsp [D]3325
42580981228 rs1179258231 N.D. missenseCAla [A]2325
contig referenceAAsp [D]2325
42580991227 rs1481166018 N.D. missenseAAsn [N]1325
contig referenceGAsp [D]1325
42581011225 rs920866890 N.D. missenseCThr [T]2324
contig referenceTMet [M]2324
42581031223 rs201333358 0.001byClusterbyFreq synonymousTAla [A]3323
contig referenceCAla [A]3323
42581051221 rs577738969 0.000byFreqWith1000GenomeData0.0002 missenseAThr [T]1323
missenseTSer [S]1323
contig referenceGAla [A]1323
42581061220 rs766852828 0.000 missenseAGlu [E]3322
missenseGGlu [E]3322
synonymousTAsp [D]3322
contig referenceCAsp [D]3322
42581141212 rs1301399120 N.D. missenseAAsn [N]1320
contig referenceGAsp [D]1320
42581161210 rs752101904 0.000byFreq missenseTLeu [L]2319
contig referenceCSer [S]2319
42581181208 rs755332264 0.000byFreq synonymousGAla [A]3318
contig referenceCAla [A]3318
42581231202 rs774685047 0.000byFreq TCCSer [S]3316
42581231203 rs781468496 0.000 missenseALys [K]1317
contig referenceGGlu [E]1317
42581301196 rs753107491 0.000 synonymousTSer [S]3314
contig referenceCSer [S]3314
42581341192 rs756818988 0.000 missenseAAsp [D]2313
contig referenceCAla [A]2313
42581411185 rs1238871574 N.D. missenseCHis [H]1311
contig referenceGAsp [D]1311
42581421184 rs974756091 N.D. synonymousCSer [S]3310
contig referenceTSer [S]3310
42581431183 rs778649498 0.000 missenseGCys [C]2310
contig referenceCSer [S]2310
42581461180 rs1485996116 N.D. missenseGSer [S]2309
contig referenceCThr [T]2309
42581471178 rs1227927639 N.D. frame shiftCHis [H]3309
contig reference-Thr [T]3309
42581481178 rs879102899 N.D.byCluster synonymousGPro [P]3308
contig referenceCPro [P]3308
42581491177 rs1266186319 N.D. missenseTLeu [L]2308
contig referenceCPro [P]2308
42581511175 rs1490054726 N.D. synonymousTAla [A]3307
contig referenceCAla [A]3307
42581521174 rs745348395 0.000byFreq missenseAAsp [D]2307
contig referenceCAla [A]2307
42581541172 rs1427256380 N.D. synonymousAGlu [E]3306
contig referenceGGlu [E]3306
42581561170 rs1309425404 N.D. missenseALys [K]1306
contig referenceGGlu [E]1306
42581571169 rs771744713 0.000 synonymousAPro [P]3305
contig referenceGPro [P]3305
42581591167 rs780131911 0.000 missenseTSer [S]1305
contig referenceCPro [P]1305
42581601166 rs746998172 0.000 missenseGTrp [W]3304
synonymousTCys [C]3304
contig referenceCCys [C]3304
42581611165 rs768649035 0.000 missenseTPhe [F]2304
contig referenceGCys [C]2304
42581621164 rs776225185 0.000byFreq missenseASer [S]1304
missenseCArg [R]1304
contig referenceTCys [C]1304
42581631163 rs1454478674 N.D. missenseGArg [R]3303
contig referenceCSer [S]3303
42581671159 rs1365015489 N.D. missenseAHis [H]2302
contig referenceGArg [R]2302
42581681158 rs146039637 0.000byClusterbyFreq missenseTCys [C]1302
contig referenceCArg [R]1302
42581711155 rs922200012 N.D. missenseTPhe [F]1301
contig referenceGVal [V]1301
42581731153 rs769862653 0.000byFreq missenseGArg [R]2300
contig referenceCPro [P]2300
42581781148 rs773475420 0.000 synonymousAVal [V]3298
synonymousCVal [V]3298
contig referenceGVal [V]3298
42581801146 rs376612667 0.000byCluster missenseAMet [M]1298
contig referenceGVal [V]1298
42581821144 rs1297409334 N.D. missenseCThr [T]2297
contig referenceTIle [I]2297
42581881138 rs766513305 0.000 missenseAAsp [D]2295
contig referenceCAla [A]2295
42581951129 rs760098052 0.000 -2292
42581951131 rs1289208228 N.D. missenseTTrp [W]1293
contig referenceCArg [R]1293
42581961130 rs369862660 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousAGln [Q]3292
contig referenceGGln [Q]3292
42581971129 rs1222670983 N.D. missenseGArg [R]2292
contig referenceAGln [Q]2292
42581991125 rs767712582 0.000byFreq -1291
42582001126 rs759904959 0.000 missenseGGly [G]2291
contig referenceAGlu [E]2291
42582031123 rs768098928 0.000byFreq missenseCAla [A]2290
missenseGGly [G]2290
contig referenceAGlu [E]2290
42582041122 rs979630640 N.D. missenseALys [K]1290
contig referenceGGlu [E]1290
42582101116 rs1255880433 N.D. missenseGVal [V]1288
contig referenceCLeu [L]1288
42582131113 rs1250936184 N.D. missenseCGln [Q]1287
contig referenceGGlu [E]1287
42582151111 rs756549532 0.000byFreq missenseGArg [R]2286
contig referenceAGln [Q]2286
42582161110 rs1161893139 N.D. missenseGGlu [E]1286
contig referenceCGln [Q]1286
42582211105 rs778676872 0.000 missenseGGly [G]2284
contig referenceAGlu [E]2284
42582241102 rs1021897491 N.D. missenseCPro [P]2283
contig referenceAGln [Q]2283
42582271099 rs750162521 0.000 missenseTIle [I]2282
contig referenceCThr [T]2282
42582351091 rs757964861 0.000 missenseGMet [M]3279
synonymousTIle [I]3279
contig referenceCIle [I]3279
42582411085 rs779650897 0.000byFreq synonymousAGln [Q]3277
contig referenceGGln [Q]3277
42600951071 rs755851865 0.000 missenseAMet [M]1273
contig referenceGVal [V]1273
42600961070 rs201856455 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAIle [I]3272
synonymousTIle [I]3272
contig referenceCIle [I]3272
42601011065 rs749089137 0.000 missenseGAla [A]1271
contig referenceAThr [T]1271
42601021064 rs771091138 0.000byFreq missenseAGlu [E]3270
contig referenceCAsp [D]3270
42601071059 rs774602369 0.000 missenseGVal [V]1269
contig referenceCLeu [L]1269
42601141052 rs1041327761 N.D. synonymousAArg [R]3266
contig referenceGArg [R]3266
42601151051 rs745900801 0.000byFreq missenseAGln [Q]2266
contig referenceGArg [R]2266
42601161050 rs1401725230 N.D. synonymousAArg [R]1266
contig referenceCArg [R]1266
42601171049 rs1420829885 N.D. synonymousASer [S]3265
contig referenceCSer [S]3265
42601201046 rs772257306 0.000 synonymousCThr [T]3264
contig referenceAThr [T]3264
42601231043 rs139081750 0.002byClusterbyFreqWith1000GenomeData0.0032 synonymousGSer [S]3263
synonymousTSer [S]3263
contig referenceCSer [S]3263
42601311035 rs764701684 0.000 missenseGAla [A]1261
contig referenceTSer [S]1261
42601331033 rs1430397294 N.D. missenseGSer [S]2260
contig referenceAAsn [N]2260
42601361030 rs1416575918 N.D. missenseCThr [T]2259
contig referenceTIle [I]2259
42601381028 rs777093673 0.000 synonymousGVal [V]3258
synonymousTVal [V]3258
contig referenceCVal [V]3258
42601391026 rs1257008958 N.D. frame shift-His [H]1258
contig referenceGTVal [V]1258
42601411025 rs142070465 0.000byClusterbyFreq synonymousASer [S]3257
synonymousCSer [S]3257
synonymousTSer [S]3257
contig referenceGSer [S]3257
42601421024 rs751265715 0.000byFreq missenseTLeu [L]2257
contig referenceCSer [S]2257
42601491017 rs1298309345 N.D. missenseTSer [S]1255
contig referenceCPro [P]1255
42601541012 rs1342247848 N.D. missenseCThr [T]2253
contig referenceTMet [M]2253
42601551009 rs1217080002 N.D. -2252
42601561010 rs970979634 N.D. synonymousTThr [T]3252
contig referenceCThr [T]3252
42601591007 rs758964440 0.000byFreq synonymousTVal [V]3251
contig referenceCVal [V]3251
42601591005 rs1289541631 N.D. -1251
42601621004 rs576796776 0.000With1000GenomeData0.0002 synonymousGVal [V]3250
synonymousTVal [V]3250
contig referenceCVal [V]3250
42601661000 rs1294281573 N.D. missenseGSer [S]2249
contig referenceAAsn [N]2249
4260173993 rs752166298 0.000 missenseTTyr [Y]1247
contig referenceCHis [H]1247
4260174992 rs370702615 0.000byClusterbyFreq synonymousTHis [H]3246
contig referenceCHis [H]3246
4260177989 rs1446651086 N.D. synonymousTSer [S]3245
contig referenceCSer [S]3245
4260178988 rs12929925 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTPhe [F]2245
contig referenceCSer [S]2245
4260181985 rs753605523 0.000 missenseTLeu [L]2244
contig referenceCPro [P]2244
4260186954 rs1489894740 N.D. -1234
4260191975 rs12929933 N.D. missenseGAla [A]1241
contig referenceCPro [P]1241
4260192974 rs757081124 0.000byFreq synonymousAPro [P]3240
contig referenceGPro [P]3240
4260193973 rs778994569 0.000byFreq missenseTLeu [L]2240
contig referenceCPro [P]2240
4260196970 rs1401000675 N.D. missenseTVal [V]2239
contig referenceCAla [A]2239
4260197969 rs12931009 N.D. missenseAThr [T]1239
contig referenceGAla [A]1239
4260199967 rs746158860 0.000 missenseTLeu [L]2238
contig referenceCPro [P]2238
4260203963 rs772195844 0.000 missenseAMet [M]1237
contig referenceGVal [V]1237
4260204962 rs151136336 0.000byClusterbyFreq synonymousTIle [I]3236
contig referenceCIle [I]3236
4260210956 rs139095393 0.000byClusterbyFreq synonymousAThr [T]3234
synonymousCThr [T]3234
contig referenceGThr [T]3234
4260212953 rs1228881488 N.D. CCCPro [P]3233
4260212954 rs1369119773 N.D. missenseCPro [P]1234
contig referenceAThr [T]1234
4260213953 rs1169895889 N.D. synonymousAPro [P]3233
contig referenceCPro [P]3233
4260216950 rs79642041 0.021byClusterbyFreqWith1000GenomeData0.0288 synonymousTHis [H]3232
contig referenceCHis [H]3232
4260217949 rs777328586 0.000byFreq missenseCPro [P]2232
contig referenceAHis [H]2232
4260218948 rs762237536 0.000 missenseTTyr [Y]1232
contig referenceCHis [H]1232
4260219947 rs147586338 0.000byClusterbyFreq missenseGGln [Q]3231
synonymousTHis [H]3231
contig referenceCHis [H]3231
4260220946 rs528385650 0.000byFreqWith1000GenomeData0.0134 missenseCPro [P]2231
contig referenceAHis [H]2231
4260221945 rs977252324 N.D. missenseTTyr [Y]1231
contig referenceCHis [H]1231
4260222944 rs1302463932 N.D. synonymousTThr [T]3230
contig referenceCThr [T]3230
4260223943 rs1331614259 N.D. missenseTIle [I]2230
contig referenceCThr [T]2230
4260224942 rs767084889 0.002byClusterbyFreq missenseCPro [P]1230
contig referenceAThr [T]1230
4260229937 rs752214011 0.000 missenseTVal [V]2228
contig referenceCAla [A]2228
4260230936 rs201830089 0.000byCluster missenseCPro [P]1228
missenseTSer [S]1228
contig referenceGAla [A]1228
4260231935 rs1349738942 N.D. synonymousAPro [P]3227
synonymousCPro [P]3227
contig referenceGPro [P]3227
4260232934 rs763985363 0.000 missenseTLeu [L]2227
contig referenceCPro [P]2227
4260235931 rs1216275289 N.D. frame shift-Leu [L]2226
contig referenceCPro [P]2226
4260236930 rs1033249905 N.D. missenseGAla [A]1226
contig referenceCPro [P]1226
4260237929 rs1234052936 N.D. synonymousTPro [P]3225
contig referenceCPro [P]3225
4260239927 rs1288494960 N.D. missenseTSer [S]1225
contig referenceCPro [P]1225
4260244922 rs368414950 0.000byClusterbyFreq missenseAHis [H]2223
contig referenceTLeu [L]2223
4260456919 rs758178082 0.000 missenseTLeu [L]2222
contig referenceAGln [Q]2222
4260457918 rs1465890908 N.D. missenseALys [K]1222
contig referenceCGln [Q]1222
4260458917 rs766594042 0.000 synonymousGThr [T]3221
contig referenceCThr [T]3221
4260462913 rs60341751 0.005byClusterbyFreqWith1000GenomeData0.0082 missenseAGln [Q]2220
missenseTLeu [L]2220
contig referenceGArg [R]2220
4260463912 rs751034744 0.000byClusterbyFreq missenseTTrp [W]1220
contig referenceCArg [R]1220
4260464911 rs748246936 0.000byFreq synonymousTLeu [L]3219
contig referenceGLeu [L]3219
4260466909 rs1287622447 N.D. synonymousTLeu [L]1219
contig referenceCLeu [L]1219
4260467908 rs251732 0.486byClusterbyFreqwith2hitWith1000GenomeData0.3273 missenseCHis [H]3218
missenseTHis [H]3218
contig referenceGGln [Q]3218
4260473902 rs1342331532 N.D. missenseTHis [H]3216
contig referenceGGln [Q]3216
4260479896 rs749631309 0.000 synonymousAArg [R]3214
contig referenceGArg [R]3214
4260480895 rs1270060753 N.D. missenseAGln [Q]2214
contig referenceGArg [R]2214
4260481894 rs1319235323 N.D. missenseTTrp [W]1214
synonymousAArg [R]1214
contig referenceCArg [R]1214
4260485890 rs771263678 0.000 synonymousCLeu [L]3212
contig referenceGLeu [L]3212
4260487888 rs1261695060 N.D. missenseGVal [V]1212
contig referenceCLeu [L]1212
4260490885 rs1156672971 N.D. missenseGGlu [E]1211
contig referenceALys [K]1211
4260492883 rs775107214 0.000 missenseGGly [G]2210
contig referenceAGlu [E]2210
4260494881 rs998725515 N.D. missenseTHis [H]3209
contig referenceGGln [Q]3209
4260497878 rs1256500978 N.D. synonymousTHis [H]3208
contig referenceCHis [H]3208
4260500875 rs746602719 0.000byFreq synonymousCLeu [L]3207
contig referenceGLeu [L]3207
4260502873 rs768302218 0.000byFreq missenseAMet [M]1207
synonymousTLeu [L]1207
contig referenceCLeu [L]1207
4260503872 rs761334173 0.000 synonymousALeu [L]3206
contig referenceGLeu [L]3206
4260506869 rs556804686 0.000With1000GenomeData0.0002 synonymousAArg [R]3205
contig referenceGArg [R]3205
4260507868 rs1032889029 N.D. missenseCThr [T]2205
contig referenceGArg [R]2205
4260508867 rs773064984 0.000 missenseGGly [G]1205
contig referenceAArg [R]1205
4260512863 rs369022161 0.000byCluster missenseCHis [H]3203
contig referenceGGln [Q]3203
4260516859 rs147961036 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCAla [A]2202
contig referenceAGlu [E]2202
4260518855 rs763806202 0.000byFreq -1201
4260521854 rs1238750440 N.D. synonymousAGln [Q]3200
contig referenceGGln [Q]3200
4260527848 rs1252283863 N.D. synonymousAGln [Q]3198
contig referenceGGln [Q]3198
4260532843 rs113715150 0.000byClusterbyFreq missenseAMet [M]1197
synonymousTLeu [L]1197
contig referenceCLeu [L]1197
4260533842 rs767887745 0.000byFreq synonymousAGln [Q]3196
contig referenceGGln [Q]3196
4260537838 rs1380545361 N.D. missenseGGly [G]2195
contig referenceTVal [V]2195
4260538837 rs1317751181 N.D. missenseAMet [M]1195
contig referenceGVal [V]1195
4260541834 rs752779088 0.000 missenseGGlu [E]1194
contig referenceCGln [Q]1194
4260542833 rs756200251 0.000 missenseTHis [H]3193
contig referenceGGln [Q]3193
4260545830 rs778336870 0.000byFreq synonymousAAla [A]3192
contig referenceGAla [A]3192
4260546829 rs1323267931 N.D. missenseTVal [V]2192
contig referenceCAla [A]2192
4260547828 rs1234426332 N.D. missenseAThr [T]1192
contig referenceGAla [A]1192
4260555820 rs1256161724 N.D. missenseGArg [R]2189
contig referenceALys [K]2189
4260566809 rs749815187 0.000byFreq synonymousAPro [P]3185
contig referenceGPro [P]3185
4260567808 rs1202810320 N.D. missenseTLeu [L]2185
contig referenceCPro [P]2185
4260571804 rs1261792628 N.D. missenseAAsn [N]1184
contig referenceTTyr [Y]1184
4260573802 rs1488357739 N.D. missenseCThr [T]2183
contig referenceTMet [M]2183
4260574801 rs199878048 0.000byClusterWith1000GenomeData0.0002 missenseGVal [V]1183
missenseTLeu [L]1183
contig referenceAMet [M]1183
4260577798 rs1266772834 N.D. missenseTTyr [Y]1182
contig referenceCHis [H]1182
4260579796 rs779182329 0.000byFreq missenseTVal [V]2181
contig referenceCAla [A]2181
4260582793 rs1176542888 N.D. missenseCAla [A]2180
contig referenceAGlu [E]2180
4260587788 rs780865305 0.000byFreq synonymousASer [S]3178
synonymousCSer [S]3178
synonymousTSer [S]3178
contig referenceGSer [S]3178
4260588787 rs768247184 0.000byFreq missenseTLeu [L]2178
contig referenceCSer [S]2178
4260589786 rs1158252392 N.D. missenseCPro [P]1178
contig referenceTSer [S]1178
4260591784 rs1361229116 N.D. missenseAHis [H]2177
contig referenceGArg [R]2177
4260592783 rs1401996813 N.D. missenseTCys [C]1177
contig referenceCArg [R]1177
4260595780 rs776312696 0.000 missenseAMet [M]1176
contig referenceGVal [V]1176
4261780778 rs747814941 0.000 missenseGArg [R]2175
contig referenceAGln [Q]2175
4261782776 rs769500943 0.000 synonymousAGlu [E]3174
contig referenceGGlu [E]3174
4261788770 rs777081003 0.000byFreq synonymousCLeu [L]3172
contig referenceGLeu [L]3172
4261793765 rs1353279098 N.D. missenseCLeu [L]1171
contig referenceAMet [M]1171
4261794764 rs1261915044 N.D. missenseAIle [I]3170
contig referenceGMet [M]3170
4261795763 rs1465381086 N.D. missenseGArg [R]2170
contig referenceTMet [M]2170
4261796762 rs748864822 0.000 missenseCLeu [L]1170
missenseTLeu [L]1170
contig referenceAMet [M]1170
4261797761 rs770947593 0.000 synonymousGArg [R]3169
contig referenceCArg [R]3169
4261799759 rs774481442 0.000 missenseTCys [C]1169
contig referenceCArg [R]1169
4261800758 rs967585693 N.D. synonymousAVal [V]3168
contig referenceGVal [V]3168
4261801757 rs759376749 0.000 missenseCAla [A]2168
contig referenceTVal [V]2168
4261803755 rs772047423 0.000byFreq synonymousASer [S]3167
synonymousCSer [S]3167
synonymousTSer [S]3167
contig referenceGSer [S]3167
4261805753 rs1215917474 N.D. missenseGAla [A]1167
contig referenceTSer [S]1167
4261806752 rs982005376 N.D. synonymousTArg [R]3166
contig referenceCArg [R]3166
4261813745 rs1228400111 N.D. missenseGArg [R]2164
contig referenceALys [K]2164
4261815743 rs369628159 0.000byClusterbyFreq missenseGGlu [E]3163
synonymousTAsp [D]3163
contig referenceCAsp [D]3163
4261816742 rs753811953 0.000byFreq missenseGGly [G]2163
contig referenceAAsp [D]2163
4261821737 rs1217744752 N.D. missenseCHis [H]3161
contig referenceGGln [Q]3161
4261822736 rs377699928 0.000byCluster missenseTLeu [L]2161
contig referenceAGln [Q]2161
4261827731 rs1034800876 N.D. synonymousAArg [R]3159
contig referenceGArg [R]3159
4261828730 rs1458961935 N.D. missenseAGln [Q]2159
contig referenceGArg [R]2159
4261829729 rs1230862078 N.D. synonymousAArg [R]1159
contig referenceCArg [R]1159
4261833725 rs546294800 0.000With1000GenomeData0.0002 synonymousAGlu [E]3157
contig referenceGGlu [E]3157
4261838720 rs765700476 0.000 missenseGVal [V]1156
contig referenceAIle [I]1156
4261843715 rs1483582889 N.D. missenseGGly [G]2154
contig referenceAGlu [E]2154
4261849709 rs1183689004 N.D. missenseAGln [Q]2152
contig referenceGArg [R]2152
4261850708 rs1417935627 N.D. missenseTTrp [W]1152
contig referenceCArg [R]1152
4261852706 rs1252690291 N.D. missenseAGln [Q]2151
contig referenceTLeu [L]2151
4261853705 rs1342519652 N.D. synonymousTLeu [L]1151
contig referenceCLeu [L]1151
4261857701 rs1204008692 N.D. missenseCAsp [D]3149
contig referenceGGlu [E]3149
4261859699 rs750996470 0.000 missenseALys [K]1149
contig referenceGGlu [E]1149
4261861697 rs1271789045 N.D. missenseTVal [V]2148
contig referenceCAla [A]2148
4261862696 rs559854345 0.000With1000GenomeData0.0002 missenseTSer [S]1148
contig referenceGAla [A]1148
4261866692 rs747687185 N.D. synonymousAGlu [E]3146
contig referenceGGlu [E]3146
4261874684 rs1360507682 N.D. missenseALys [K]1144
contig referenceGGlu [E]1144
4261876682 rs1290656850 N.D. nonsenseA2143
contig referenceGTrp [W]2143
4261877681 rs780339724 0.000 missenseGGly [G]1143
contig referenceTTrp [W]1143
4261878680 rs1349408296 N.D. synonymousTIle [I]3142
contig referenceCIle [I]3142
4261880678 rs1490703612 N.D. missenseGVal [V]1142
contig referenceAIle [I]1142
4261884674 rs1331714487 N.D. synonymousAPro [P]3140
contig referenceGPro [P]3140
4261890668 rs1358231672 N.D. synonymousAGly [G]3138
synonymousTGly [G]3138
contig referenceCGly [G]3138
4261891667 rs1418228155 N.D. missenseAAsp [D]2138
contig referenceGGly [G]2138
4261897661 rs1448058798 N.D. missenseAAsp [D]2136
contig referenceGGly [G]2136
4261904654 rs573388877 0.000With1000GenomeData0.0002 missenseAAsn [N]1134
contig referenceGAsp [D]1134
4261908650 rs755686241 0.000 missenseGGlu [E]3132
contig referenceCAsp [D]3132
4261912646 rs990481984 N.D. missenseTVal [V]2131
contig referenceAGlu [E]2131
4261914644 rs916257863 N.D. synonymousGAla [A]3130
contig referenceAAla [A]3130
4261915643 rs377249379 0.000byClusterbyFreq missenseTVal [V]2130
contig referenceCAla [A]2130
4261916642 rs1278826521 N.D. missenseAThr [T]1130
contig referenceGAla [A]1130
4261920638 rs1426618109 N.D. synonymousAArg [R]3128
contig referenceGArg [R]3128
4261924634 rs748728800 0.000byFreq missenseAGln [Q]2127
contig referenceGArg [R]2127
4261926632 rs770608536 0.000 synonymousALys [K]3126
contig referenceGLys [K]3126
4261928630 rs778977359 0.000byFreq missenseCGln [Q]1126
contig referenceALys [K]1126
4261929629 rs745740125 0.000 synonymousTPro [P]3125
contig referenceCPro [P]3125
4261932626 rs1221471589 N.D. synonymousTSer [S]3124
contig referenceCSer [S]3124
4261933625 rs772135551 0.000 missenseTPhe [F]2124
contig referenceCSer [S]2124
4261934624 rs775104271 0.000byFreq missenseCPro [P]1124
contig referenceTSer [S]1124
4261935623 rs746843232 0.000byFreq synonymousCSer [S]3123
contig referenceGSer [S]3123
4261936622 rs1240401847 N.D. missenseTLeu [L]2123
contig referenceCSer [S]2123
4261938620 rs1488033566 N.D. synonymousTGly [G]3122
contig referenceCGly [G]3122
4261939619 rs1195018321 N.D. missenseTVal [V]2122
contig referenceGGly [G]2122
4261941617 rs1405426772 N.D. synonymousTSer [S]3121
contig referenceCSer [S]3121
4261944614 rs1270789147 N.D. synonymousALeu [L]3120
contig referenceGLeu [L]3120
4261946612 rs1266057872 N.D. missenseGVal [V]1120
contig referenceCLeu [L]1120
4262324608 rs1255921697 N.D. synonymousAGln [Q]3118
contig referenceGGln [Q]3118
4262327605 rs1190692663 N.D. missenseGMet [M]3117
contig referenceCIle [I]3117
4262334598 rs370334406 0.000byClusterbyFreq YesmissenseAHis [H]2115
contig referenceGArg [R]2115
4262335597 rs763047053 0.000byFreq missenseTCys [C]1115
contig referenceCArg [R]1115
4262339593 rs766777684 0.000 synonymousGLeu [L]3113
contig referenceCLeu [L]3113
4262341591 rs1240911702 N.D. missenseTPhe [F]1113
contig referenceCLeu [L]1113
4262342590 rs774964786 0.000 synonymousAGln [Q]3112
contig referenceGGln [Q]3112
4262345587 rs759818510 0.000byFreq synonymousTThr [T]3111
contig referenceAThr [T]3111
4262360572 rs767861866 0.000 synonymousTLeu [L]3106
contig referenceCLeu [L]3106
4262366566 rs200418884 0.001byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTThr [T]3104
contig referenceCThr [T]3104
4262367565 rs1022138540 N.D. missenseAAsn [N]2104
contig referenceCThr [T]2104
4262368564 rs1203488978 N.D. missenseGAla [A]1104
contig referenceAThr [T]1104
4262369563 rs756925183 0.000 synonymousALys [K]3103
contig referenceGLys [K]3103
4262383549 rs765000273 0.000byFreq synonymousTLeu [L]199
contig referenceCLeu [L]199
4262386544 rs753592219 0.000 -297
4262387545 rs1235928061 N.D. synonymousTPhe [F]397
contig referenceCPhe [F]397
4262390542 rs964503824 N.D. synonymousTIle [I]396
contig referenceCIle [I]396
4262392540 rs1438731709 N.D. missenseGVal [V]196
contig referenceAIle [I]196
4262393539 rs996010014 N.D. synonymousTTyr [Y]395
contig referenceCTyr [Y]395
4262399533 rs568879166 0.000With1000GenomeData0.0002 synonymousTAla [A]393
contig referenceCAla [A]393
4262408524 rs757965906 0.000 missenseTHis [H]390
contig referenceGGln [Q]390
4262411521 rs374730770 0.000byCluster YessynonymousTLeu [L]389
contig referenceCLeu [L]389
4262420512 rs1414453691 N.D. synonymousGAla [A]386
contig referenceAAla [A]386
4262544501 rs750166633 0.000 missenseTPhe [F]183
contig referenceCLeu [L]183
4262545500 rs762355234 0.000 synonymousALys [K]382
contig referenceGLys [K]382
4262553492 rs1324641910 N.D. missenseAArg [R]180
contig referenceGGly [G]180
4262555490 rs1438189110 N.D. missenseGGly [G]279
contig referenceAAsp [D]279
4262556489 rs1319031246 N.D. missenseAAsn [N]179
contig referenceGAsp [D]179
4262558487 rs573326763 0.000With1000GenomeData0.0002 missenseTIle [I]278
contig referenceCThr [T]278
4262561484 rs947438568 N.D. missenseGArg [R]277
contig referenceAHis [H]277
4262563482 rs1167498869 N.D. synonymousGPro [P]376
contig referenceCPro [P]376
4262571474 rs1365679586 N.D. missenseGVal [V]174
contig referenceCLeu [L]174
4262572473 rs187986103 0.000byClusterWith1000GenomeData0.0002 YessynonymousTThr [T]373
contig referenceCThr [T]373
4262574471 rs754907282 0.000 missenseTSer [S]173
contig referenceAThr [T]173
4262584461 rs781131167 0.000 missenseTHis [H]369
contig referenceGGln [Q]369
4262590455 rs1195835464 N.D. synonymousGGly [G]367
contig referenceAGly [G]367
4262593452 rs752470093 0.000byFreq synonymousAAla [A]366
contig referenceGAla [A]366
4262596449 rs903472778 N.D. synonymousTAsn [N]365
contig referenceCAsn [N]365
4262603442 rs1262387278 N.D. missenseAAsn [N]263
contig referenceGSer [S]263
4262607438 rs1273638857 N.D. nonsenseT162
contig referenceCGln [Q]162
4262611434 rs1477991023 N.D. synonymousAArg [R]360
contig referenceCArg [R]360
4262613432 rs1195601756 N.D. missenseTCys [C]160
contig referenceCArg [R]160
4262618427 rs755945532 0.000 missenseAGln [Q]258
contig referenceGArg [R]258
4262623422 rs1465706654 N.D. synonymousTAsn [N]356
contig referenceCAsn [N]356
4262626419 rs1003536916 N.D. synonymousTSer [S]355
contig referenceCSer [S]355
4262635410 rs777971498 0.000 synonymousTIle [I]352
contig referenceCIle [I]352
4262639406 rs987226682 N.D. missenseGGly [G]251
contig referenceAGlu [E]251
4262644401 rs556229680 0.000byCluster synonymousAArg [R]349
contig referenceGArg [R]349
4262647398 rs1418013715 N.D. synonymousAIle [I]348
contig referenceTIle [I]348
4262649396 rs1298053896 N.D. missenseGVal [V]148
contig referenceAIle [I]148
4262652393 rs1341696828 N.D. missenseTTrp [W]147
contig referenceCArg [R]147
4262653392 rs1402185791 N.D. synonymousAArg [R]346
contig referenceGArg [R]346
4262654391 rs1299602444 N.D. missenseAGln [Q]246
contig referenceGArg [R]246
4262661384 rs928835379 N.D. missenseGGlu [E]144
contig referenceCGln [Q]144
4262662383 rs561925676 0.000With1000GenomeData0.0002 synonymousTAsp [D]343
contig referenceCAsp [D]343
4262665380 rs779007146 0.000byFreq synonymousAArg [R]342
synonymousTArg [R]342
contig referenceGArg [R]342
4262667378 rs745954768 0.000 missenseGGly [G]142
contig referenceCArg [R]142
4262668377 rs774934329 N.D. missenseTHis [H]341
contig referenceGGln [Q]341
4262669375 rs778516548 0.000 frame shift-Ala [A]141
contig referenceCAGln [Q]141
4262672372 rs745735035 0.000 frame shift(11bp)Asn [N]140
contig reference-Thr [T]140
4262674371 rs368715887 N.D. missenseTAsp [D]339
contig referenceGGlu [E]339
4262676369 rs1213837499 N.D. missenseALys [K]139
contig referenceGGlu [E]139
4262679366 rs772606514 0.000 missenseTSer [S]138
contig referenceCPro [P]138
4262680365 rs776180199 0.000byFreq synonymousTThr [T]337
contig referenceCThr [T]337
4262681364 rs372159354 0.000byCluster missenseAAsn [N]237
missenseTIle [I]237
contig referenceCThr [T]237
4262683362 rs769201510 0.000 synonymousGLeu [L]336
contig referenceALeu [L]336
4262685360 rs1270706448 N.D. missenseAIle [I]136
contig referenceCLeu [L]136
4262688357 rs1432445603 N.D. missenseAThr [T]135
contig referenceCPro [P]135
4262692353 rs777148532 0.000byFreq synonymousTAsn [N]333
contig referenceCAsn [N]333
4262694351 rs1397125444 N.D. missenseCHis [H]133
contig referenceAAsn [N]133
4262696349 rs762601421 0.000 missenseGGly [G]232
contig referenceCAla [A]232
4262701344 rs765979176 0.000 missenseGArg [R]330
contig referenceCSer [S]330
4272662339 rs1465498459 N.D. missenseCArg [R]129
contig referenceTCys [C]129
4272663338 rs765492125 0.000 synonymousGLeu [L]328
contig referenceCLeu [L]328
4272666335 rs375999150 0.000byCluster synonymousAGly [G]327
synonymousTGly [G]327
contig referenceGGly [G]327
4272684317 rs758708073 0.000byFreq synonymousAGlu [E]321
contig referenceGGlu [E]321
4272685316 rs1443309296 N.D. missenseCAla [A]221
contig referenceAGlu [E]221
4272688313 rs1261492202 N.D. missenseTIle [I]220
contig referenceCThr [T]220
4272705296 rs918618831 N.D. synonymousALeu [L]314
contig referenceGLeu [L]314
4272709292 rs780215391 0.000 missenseGCys [C]213
contig referenceCSer [S]213
4272711290 rs148999505 0.000byClusterbyFreq synonymousGPro [P]312
synonymousTPro [P]312
contig referenceCPro [P]312
4272712289 rs1245402418 N.D. missenseTLeu [L]212
contig referenceCPro [P]212
4272713288 rs755494562 0.000 missenseTSer [S]112
contig referenceCPro [P]112
4272714287 rs1295123489 N.D. synonymousTVal [V]311
contig referenceGVal [V]311
4272716285 rs143657362 0.000byCluster missenseAMet [M]111
missenseCLeu [L]111
contig referenceGVal [V]111
4272721280 rs548242470 0.000With1000GenomeData0.0002 missenseCPro [P]29
contig referenceAGln [Q]29
4272724277 rs1286137520 N.D. missenseGSer [S]28
contig referenceCThr [T]28
4272726275 rs1217800548 N.D. synonymousTPro [P]37
contig referenceCPro [P]37
4272729272 rs987103292 N.D. synonymousTVal [V]36
contig referenceGVal [V]36
4272734267 rs1309513681 N.D. missenseGVal [V]15
contig referenceAMet [M]15
4272739262 rs1208329487 N.D. missenseGCys [C]23
contig referenceATyr [Y]23
4272833157 rs1489863083 N.D. -
4272869130 rs961952764 N.D. -
4272869127 rs1248513930 N.D. -
427289088 rs1221611402 N.D. -
427290192 rs1413243674 N.D. -
427294842 rs1384891889 N.D. -
427294947 rs1334468285 N.D. -
427295517 rs1218456571 N.D. -
427295529 rs1263169648 N.D. -
427295535 rs1265196319 N.D. -
427295541 rs1274600198 N.D. -
427295523 rs1313860199 N.D. -