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SNP linked to Gene (geneID:56979) 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): 2
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_020227.3plus strandNP_064612.2forwardNT_006576.17GRCh38.p7<- currently shown
NM_001310214.1plus strandNP_001297143.1forwardNT_006576.17GRCh38.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_006576.17NM_020227.3NP_064612.2forwardplus strand1147, 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
23509034143 rs753452540 0.000 missenseGVal [V]11
contig referenceAMet [M]11
23509035144 rs571836582 0.000byFreqWith1000GenomeData0.0002 missenseCThr [T]21
contig referenceTMet [M]21
23509036145 rs766916228 0.000byFreq missenseAIle [I]31
contig referenceGMet [M]31
23509038147 rs972972087 N.D. missenseAAsn [N]22
contig referenceGSer [S]22
23509039148 rs752095846 0.000 synonymousTSer [S]32
contig referenceCSer [S]32
23509043152 rs755272851 0.000 missenseALys [K]14
contig referenceGGlu [E]14
23509044153 rs781632238 0.000 missenseGGly [G]24
contig referenceAGlu [E]24
23509050159 rs1288072124 N.D. missenseTPhe [F]26
contig referenceCSer [S]26
23509051160 rs1484683896 N.D. synonymousTSer [S]36
contig referenceCSer [S]36
23509052161 rs752853088 0.000byFreq missenseGGlu [E]17
contig referenceCGln [Q]17
23509053162 rs537694515 0.000byFreqWith1000GenomeData0.0002 missenseGArg [R]27
contig referenceAGln [Q]27
23509057166 rs777685410 0.000byFreq synonymousAGlu [E]38
contig referenceGGlu [E]38
23509059168 rs1179952222 N.D. missenseGGly [G]29
contig referenceAGlu [E]29
23509060169 rs749429353 0.000byFreq missenseTAsp [D]39
synonymousAGlu [E]39
contig referenceGGlu [E]39
23509061170 rs778952844 0.000 missenseGGly [G]110
contig referenceASer [S]110
23509066175 rs1259805878 N.D. synonymousGPro [P]311
contig referenceAPro [P]311
23509070179 rs866320231 N.D. missenseALys [K]113
contig referenceGGlu [E]113
23509074183 rs1213133456 N.D. missenseGGly [G]214
contig referenceAAsp [D]214
23509075184 rs141880427 0.003byClusterbyFreqWith1000GenomeData0.0026 synonymousTAsp [D]314
contig referenceCAsp [D]314
23509077186 rs771705054 0.000byFreq missenseTIle [I]215
contig referenceCThr [T]215
23509079188 rs1312883046 N.D. missenseCGln [Q]116
contig referenceGGlu [E]116
23509081190 rs775410752 0.000 missenseCAsp [D]316
synonymousAGlu [E]316
contig referenceGGlu [E]316
23509088197 rs201296788 0.000byClusterbyFreqWith1000GenomeData0.0004 nonsenseT119
missenseALys [K]119
contig referenceGGlu [E]119
23509091200 rs184600328 0.002byClusterbyFreqWith1000GenomeData0.0008 missenseTTrp [W]120
synonymousAArg [R]120
contig referenceCArg [R]120
23509092201 rs764735588 0.000byFreq missenseAGln [Q]220
contig referenceGArg [R]220
23509100209 rs1351816865 N.D. missenseGVal [V]123
contig referenceAMet [M]123
23509473215 rs1011532777 N.D. missenseGGlu [E]125
contig referenceALys [K]125
23509474216 rs1318837888 N.D. missenseCThr [T]225
contig referenceALys [K]225
23509490232 rs7714612 0.017byClusterbyFreqWith1000GenomeData0.0327 synonymousTAsp [D]330
contig referenceCAsp [D]330
23509496238 rs1271610648 N.D. synonymousTSer [S]332
contig referenceCSer [S]332
23509497239 rs1468321108 N.D. missenseTLeu [L]133
contig referenceAIle [I]133
23509499241 rs772778879 0.000 missenseGMet [M]333
contig referenceAIle [I]333
23509501243 rs571933768 0.000byFreqWith1000GenomeData0.0002 missenseGCys [C]234
missenseTPhe [F]234
contig referenceATyr [Y]234
23509502244 rs768121368 0.000 synonymousTTyr [Y]334
contig referenceCTyr [Y]334
23509511253 rs1205875757 N.D. synonymousALys [K]337
contig referenceGLys [K]337
23509513255 rs753167841 0.000 missenseGGly [G]238
missenseTVal [V]238
contig referenceAGlu [E]238
23509517259 rs761061137 0.000 synonymousGGlu [E]339
contig referenceAGlu [E]339
23509518260 rs764369782 0.000 missenseCArg [R]140
contig referenceTTrp [W]140
23509519261 rs186504490 0.000byClusterbyFreqWith1000GenomeData0.0012 nonsenseA240
contig referenceGTrp [W]240
23509521263 rs757609204 0.000 missenseAThr [T]141
missenseTSer [S]141
contig referenceGAla [A]141
23509522264 rs1235185238 N.D. missenseAGlu [E]241
contig referenceCAla [A]241
23509526268 rs765400731 0.000byFreq synonymousAGlu [E]342
contig referenceGGlu [E]342
23509527269 rs1460726711 N.D. missenseGVal [V]143
missenseTLeu [L]143
contig referenceAMet [M]143
23509533275 rs750568989 0.000 missenseTTyr [Y]145
contig referenceGAsp [D]145
23509534276 rs758241431 0.000 missenseCAla [A]245
contig referenceAAsp [D]245
23509535277 rs370206811 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTAsp [D]345
contig referenceCAsp [D]345
23509537279 rs746928258 0.000 missenseTLeu [L]246
contig referenceGTrp [W]246
23509537279 rs771602494 0.000byCluster frame shift-Arg [R]247
contig referenceGGlu [E]247
23509540282 rs1399820378 N.D. missenseGGly [G]247
contig referenceAGlu [E]247
23509541283 rs567475714 0.000With1000GenomeData0.0002 synonymousAGlu [E]347
contig referenceGGlu [E]347
23509542284 rs781024869 0.000 missenseGGlu [E]148
contig referenceALys [K]148
23509543285 rs747797842 0.000 missenseCThr [T]248
contig referenceALys [K]248
23509548290 rs200350485 0.000byClusterbyFreq missenseTCys [C]150
contig referenceCArg [R]150
23509549291 rs772688836 0.000 missenseTLeu [L]250
contig referenceGArg [R]250
23509552294 rs201417580 N.D. missenseGCys [C]251
contig referenceATyr [Y]251
23509555297 rs1267642793 N.D. missenseALys [K]252
contig referenceGArg [R]252
23509557299 rs1485156258 N.D. missenseCHis [H]153
contig referenceAAsn [N]153
23509560302 rs536358779 0.000With1000GenomeData0.0002 missenseAMet [M]154
contig referenceGVal [V]154
23509562304 rs770380431 0.000 synonymousAVal [V]354
contig referenceGVal [V]354
23509565307 rs1477863604 N.D. -356
23509567309 rs775997601 0.000byFreq missenseALys [K]256
missenseCThr [T]256
contig referenceGArg [R]256
23509569311 rs1415194601 N.D. missenseGAsp [D]157
contig referenceAAsn [N]157
23509571313 rs764540300 0.000 synonymousTAsn [N]357
contig referenceCAsn [N]357
23509573315 rs777201978 0.000byFreq missenseGCys [C]258
contig referenceATyr [Y]258
23509582324 rs762092212 0.000byFreq missenseCPro [P]261
contig referenceTLeu [L]261
23509584326 rs1242561352 N.D. missenseCLeu [L]162
contig referenceAIle [I]162
23509586328 rs765601586 0.000 missenseGMet [M]362
synonymousCIle [I]362
contig referenceTIle [I]362
23509587329 rs1192189339 N.D. missenseGAla [A]163
contig referenceAThr [T]163
23509591333 rs1297522674 N.D. missenseCThr [T]264
contig referenceTIle [I]264
23509592334 rs750630766 0.000 synonymousTIle [I]364
contig referenceAIle [I]364
23509593335 rs1446685629 N.D. missenseTCys [C]165
contig referenceGGly [G]165
23509921337 rs905881893 N.D. synonymousAGly [G]365
contig referenceTGly [G]365
23509922338 rs763144999 0.000 missenseGVal [V]166
contig referenceCLeu [L]166
23509925341 rs1310202376 N.D. missenseGGly [G]167
contig referenceAArg [R]167
23509928344 rs766479772 0.000 missenseAThr [T]168
contig referenceGAla [A]168
23509929345 rs751634562 0.000 missenseGGly [G]268
missenseTVal [V]268
contig referenceCAla [A]268
23509931347 rs1310515424 N.D. missenseTSer [S]169
contig referenceAThr [T]169
23509932348 rs1349068530 N.D. missenseTIle [I]269
contig referenceCThr [T]269
23509933349 rs1356430438 N.D. synonymousAThr [T]369
contig referenceTThr [T]369
23509934350 rs759447836 0.000byFreq nonsenseT170
contig referenceCArg [R]170
23509935351 rs767394233 0.000byFreq missenseAGln [Q]270
missenseTLeu [L]270
contig referenceGArg [R]270
23509937353 rs774933377 0.000 frame shift-Gln [Q]171
contig referenceCPro [P]171
23509941357 rs1285258925 N.D. missenseTVal [V]272
contig referenceCAla [A]272
23509942358 rs1210304837 N.D. synonymousCAla [A]372
contig referenceTAla [A]372
23509943359 rs752664371 0.000 missenseCLeu [L]173
contig referenceTPhe [F]173
23509945361 rs762323976 0.000byClusterbyFreq frame shift-Leu [L]373
contig referenceCPhe [F]373
23509946362 rs1177738849 N.D. missenseGVal [V]174
contig referenceAMet [M]174
23509947363 rs539052584 0.000With1000GenomeData0.0002 missenseALys [K]274
contig referenceTMet [M]274
23509948364 rs191143245 0.000byFreqWith1000GenomeData missenseTIle [I]374
contig referenceGMet [M]374
23509948364 rs1433824093 N.D. frame shift-Lys [K]375
contig reference(8bp)Cys [C]375
23509952368 rs1441412311 N.D. missenseTTyr [Y]176
contig referenceCHis [H]176
23509954370 rs756927336 0.000 synonymousTHis [H]376
contig referenceCHis [H]376
23509955371 rs201284800 0.000byClusterbyFreq nonsenseT177
missenseGGly [G]177
contig referenceCArg [R]177
23509956372 rs375716818 0.000byClusterbyFreq missenseAGln [Q]277
contig referenceGArg [R]277
23509960376 rs771726385 0.000byFreq missenseTSer [S]378
contig referenceGArg [R]378
23509961377 rs781748952 0.000byFreq nonsenseT179
contig referenceCGln [Q]179
23509967383 rs1465338156 N.D. missenseGVal [V]181
contig referenceAIle [I]181
23509968384 rs1332416989 N.D. missenseCThr [T]281
contig referenceTIle [I]281
23509977393 rs748666159 0.000 missenseGArg [R]284
contig referenceAGln [Q]284
23509978394 rs770273085 0.000 synonymousAGln [Q]384
contig referenceGGln [Q]384
23509978394 rs1408896316 N.D. frame shift-Trp [W]385
contig referenceGVal [V]385
23509981397 rs559220696 N.D.byCluster synonymousAVal [V]385
contig referenceGVal [V]385
23509986402 rs773518946 0.000 missenseGGly [G]287
contig referenceAAsp [D]287
23509988404 rs763206894 0.000 missenseCPro [P]188
contig referenceAThr [T]188
23509991407 rs200620999 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseALys [K]189
contig referenceGGlu [E]189
23509995411 rs1280174743 N.D. missenseTVal [V]290
contig referenceAAsp [D]290
23509998414 rs201761413 0.000byClusterbyFreq missenseATyr [Y]291
contig referenceCSer [S]291
23510000416 rs199795687 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]192
contig referenceGAsp [D]192
23510001417 rs1258402056 N.D. missenseGGly [G]292
contig referenceAAsp [D]292
23510008424 rs767590579 0.000byFreq missenseTAsp [D]394
synonymousGGlu [E]394
contig referenceAGlu [E]394
23510013429 rs1191584992 N.D. missenseTIle [I]296
contig referenceCThr [T]296
23510014430 rs201590420 N.D.byClusterWith1000GenomeData synonymousTThr [T]396
contig referenceCThr [T]396
23510016432 rs752574389 0.000 missenseGArg [R]297
contig referenceCPro [P]297
23510019435 rs1192963624 N.D. missenseALys [K]298
contig referenceGArg [R]298
23510023439 rs1417497497 N.D. synonymousAGln [Q]399
contig referenceGGln [Q]399
23510025441 rs1018512561 N.D. missenseCPro [P]2100
contig referenceAGln [Q]2100
23510027443 rs200629735 0.000byClusterbyFreq missenseAIle [I]1101
missenseCLeu [L]1101
contig referenceGVal [V]1101
23517887450 rs1360521093 N.D. missenseTLeu [L]2103
contig referenceCPro [P]2103
23517890453 rs1398833112 N.D. missenseAHis [H]2104
contig referenceCPro [P]2104
23517891454 rs774371565 0.000byFreq synonymousAPro [P]3104
contig referenceTPro [P]3104
23517894457 rs759768731 0.000byClusterbyFreq nonsenseA3105
contig referenceGTrp [W]3105
23517896459 rs772123756 0.000 missenseALys [K]2106
contig referenceTMet [M]2106
23517897460 rs775610916 0.000 missenseAIle [I]3106
contig referenceGMet [M]3106
23517899462 rs760574084 0.000 missenseTVal [V]2107
contig referenceCAla [A]2107
23517902465 rs1283333734 N.D. missenseCSer [S]2108
contig referenceTLeu [L]2108
23517904467 rs1448664998 N.D. missenseGGly [G]1109
contig referenceAArg [R]1109
23517905468 rs968368742 N.D. missenseALys [K]2109
missenseCThr [T]2109
contig referenceGArg [R]2109
23517907470 rs1229898156 N.D. missenseTLeu [L]1110
contig referenceGVal [V]1110
23517909472 rs1283798003 N.D. synonymousAVal [V]3110
contig referenceGVal [V]3110
23517913476 rs1487956793 N.D. missenseGGlu [E]1112
contig referenceCGln [Q]1112
23517915478 rs1217409265 N.D. synonymousAGln [Q]3112
contig referenceGGln [Q]3112
23517916479 rs62342743 0.000byClusterbyFreq missenseASer [S]1113
missenseTCys [C]1113
contig referenceCArg [R]1113
23517917480 rs553898626 0.000byFreqWith1000GenomeData0.0004 missenseAHis [H]2113
contig referenceGArg [R]2113
23517923486 rs370006144 N.D. missenseCPro [P]2115
contig referenceAHis [H]2115
23517924487 rs1209389712 N.D. missenseGGln [Q]3115
contig referenceCHis [H]3115
23521026497 rs761821081 0.000byFreq missenseGVal [V]1119
missenseTLeu [L]1119
contig referenceAMet [M]1119
23521035506 rs764939554 0.000 missenseAThr [T]1122
missenseTSer [S]1122
contig referenceGAla [A]1122
23521036507 rs773183075 0.000byFreq missenseAGlu [E]2122
missenseTVal [V]2122
contig referenceCAla [A]2122
23521037508 rs766083673 0.000byFreq synonymousAAla [A]3122
contig referenceGAla [A]3122
23521040511 rs200830061 0.000byCluster synonymousTSer [S]3123
contig referenceASer [S]3123
23521045516 rs770722635 N.D. missenseAAsn [N]2125
contig referenceGSer [S]2125
23521050521 rs1232593522 N.D. nonsenseT1127
contig referenceGGlu [E]1127
23521053524 rs754379244 0.000 missenseGAla [A]1128
contig referenceTSer [S]1128
23521054525 rs1376432727 N.D. missenseGCys [C]2128
contig referenceCSer [S]2128
23521061532 rs767070095 0.000byFreq synonymousALeu [L]3130
contig referenceGLeu [L]3130
23521064535 rs1197009563 N.D. missenseCAsn [N]3131
synonymousGLys [K]3131
contig referenceALys [K]3131
23521067538 rs754289228 0.000 synonymousGGlu [E]3132
contig referenceAGlu [E]3132
23521068539 rs757847381 0.000byFreq synonymousCLeu [L]1133
contig referenceTLeu [L]1133
23521071542 rs201979490 0.002 missenseCPro [P]1134
contig referenceTSer [S]1134
23521073544 rs372354514 0.000byClusterbyFreq synonymousGSer [S]3134
contig referenceASer [S]3134
23521074545 rs1407503353 N.D. frame shift-Ser [S]1135
contig referenceAGAACArg [R]1135
23521076547 rs1265871283 N.D. missenseTSer [S]3135
contig referenceAArg [R]3135
23521081552 rs1176288365 N.D. missenseTVal [V]2137
contig referenceCAla [A]2137
23521083554 rs200008043 0.000byClusterWith1000GenomeData0.0002 missenseCHis [H]1138
contig referenceAAsn [N]1138
23521087558 rs758785257 0.000 nonsenseG2139
contig referenceTLeu [L]2139
23521088559 rs780205575 0.000 synonymousGLeu [L]3139
contig referenceALeu [L]3139
23521093564 rs1481178213 N.D. missenseCThr [T]2141
contig referenceAAsn [N]2141
23521094565 rs1189944641 N.D. synonymousCAsn [N]3141
contig referenceTAsn [N]3141
23521096567 rs948493604 N.D. missenseAGlu [E]2142
contig referenceCAla [A]2142
23521098569 rs201960679 N.D.With1000GenomeData missenseGGly [G]1143
contig referenceASer [S]1143
23521102573 rs200064068 0.001byClusterbyFreq missenseTVal [V]2144
contig referenceGGly [G]2144
23521103574 rs10042274 0.005byClusterbyFreqWith1000GenomeData0.0096 synonymousTGly [G]3144
contig referenceCGly [G]3144
23521106577 rs1173493649 N.D. synonymousGSer [S]3145
contig referenceASer [S]3145
23521110581 rs1418217538 N.D. nonsenseT1147
missenseALys [K]1147
contig referenceCGln [Q]1147
23521113584 rs776827781 0.000byFreq missenseAThr [T]1148
contig referenceGAla [A]1148
23521114585 rs748007362 0.000 missenseTVal [V]2148
contig referenceCAla [A]2148
23521116587 rs769822838 0.000byCluster nonsenseT1149
contig referenceCGln [Q]1149
23521117588 rs1184920742 N.D. missenseCPro [P]2149
contig referenceAGln [Q]2149
23521119590 rs1427758179 N.D. missenseGGlu [E]1150
contig referenceALys [K]1150
23521125596 rs773308210 0.000 missenseAMet [M]1152
contig referenceGVal [V]1152
23521130601 rs1302013225 N.D. synonymousTSer [S]3153
contig referenceCSer [S]3153
23521134605 rs187402591 0.000byFreqWith1000GenomeData0.0002 missenseGAla [A]1155
contig referenceTSer [S]1155
23521136607 rs1216960519 N.D. synonymousGSer [S]3155
contig referenceTSer [S]3155
23521138609 rs1277802791 N.D. missenseAGlu [E]2156
contig referenceGGly [G]2156
23521142613 rs1198601050 N.D. synonymousGGlu [E]3157
contig referenceAGlu [E]3157
23521145616 rs770853944 0.000byFreq synonymousGAla [A]3158
contig referenceAAla [A]3158
23521147618 rs774090351 0.000byFreq missenseAAsn [N]2159
contig referenceGSer [S]2159
23521148619 rs759293208 0.000byFreq synonymousCSer [S]3159
contig referenceTSer [S]3159
23521150621 rs766933898 0.000 missenseTIle [I]2160
contig referenceCThr [T]2160
23521151622 rs752289634 0.000 synonymousGThr [T]3160
contig referenceCThr [T]3160
23521152623 rs1413146285 N.D. missenseCPro [P]1161
contig referenceTSer [S]1161
23521153624 rs762202186 0.000 missenseTPhe [F]2161
contig referenceCSer [S]2161
23521154625 rs1334040870 N.D. synonymousCSer [S]3161
contig referenceTSer [S]3161
23521155626 rs765683731 0.000 missenseCArg [R]1162
contig referenceGGly [G]1162
23521156627 rs750959859 0.000 missenseAGlu [E]2162
contig referenceGGly [G]2162
23521164635 rs1238020382 N.D. missenseCPro [P]1165
contig referenceTSer [S]1165
23521165636 rs879146332 N.D.byCluster nonsenseG2165
missenseTLeu [L]2165
contig referenceCSer [S]2165
23521166637 rs200991855 N.D.With1000GenomeData synonymousTSer [S]3165
contig referenceASer [S]3165
23521171642 rs372646164 0.000byCluster missenseAGln [Q]2167
contig referenceTLeu [L]2167
23521176647 rs777627903 0.000 frame shift(17bp)Gln [Q]1169
contig reference-Leu [L]1169
23521177648 rs1172215105 N.D. missenseCPro [P]2169
contig referenceTLeu [L]2169
23521179650 rs758691394 0.000byFreq missenseALys [K]1170
missenseCGln [Q]1170
contig referenceGGlu [E]1170
23522309656 rs763734322 0.000byClusterbyFreq missenseGGly [G]1172
synonymousCArg [R]1172
contig referenceAArg [R]1172
23522310657 rs759881777 N.D. missenseALys [K]2172
contig referenceGArg [R]2172
23522311658 rs745542408 0.000 -3174
23522316663 rs767786395 0.000 missenseCThr [T]2174
contig referenceALys [K]2174
23522317664 rs1325070919 N.D. synonymousALys [K]3174
contig referenceGLys [K]3174
23522320667 rs1174103420 N.D. synonymousAGlu [E]3175
contig referenceGGlu [E]3175
23522325672 rs202188309 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCAla [A]2177
contig referenceAGlu [E]2177
23522328675 rs865825433 N.D. missenseALys [K]2178
contig referenceGArg [R]2178
23522338685 rs756473118 0.000byFreq synonymousCTyr [Y]3181
contig referenceTTyr [Y]3181
23522339686 rs754017953 0.000byFreq missenseGGly [G]1182
contig referenceASer [S]1182
23522341688 rs757433060 0.000byFreq missenseAArg [R]3182
contig referenceCSer [S]3182
23522342689 rs778868424 0.000 synonymousTLeu [L]1183
contig referenceCLeu [L]1183
23522345692 rs181064967 0.001byFreqWith1000GenomeData0.0006 nonsenseT1184
synonymousAArg [R]1184
contig referenceCArg [R]1184
23522346693 rs779766814 0.000byFreq missenseAGln [Q]2184
missenseCPro [P]2184
contig referenceGArg [R]2184
23522347694 rs185548599 0.001byClusterbyFreqWith1000GenomeData0.0014 synonymousTArg [R]3184
contig referenceAArg [R]3184
23522357704 rs369637146 0.000byClusterbyFreq missenseASer [S]1188
missenseCArg [R]1188
missenseTCys [C]1188
contig referenceGGly [G]1188
23522360707 rs1261340959 N.D. missenseAAsn [N]1189
contig referenceCHis [H]1189
23522362709 rs769195294 0.000 synonymousCHis [H]3189
contig referenceTHis [H]3189
23522364711 rs1210417152 N.D. missenseTVal [V]2190
contig referenceCAla [A]2190
23522368715 rs774868537 0.000 nonsenseG3191
contig referenceCTyr [Y]3191
23522372719 rs760019625 0.000 missenseALys [K]1193
contig referenceGGlu [E]1193
23522375722 rs373825952 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAIle [I]1194
contig referenceGVal [V]1194
23522378725 rs567594465 0.000With1000GenomeData0.0028 missenseGGly [G]1195
contig referenceASer [S]1195
23522380727 rs536648531 0.003byFreqWith1000GenomeData0.0014 missenseGArg [R]3195
synonymousTSer [S]3195
contig referenceCSer [S]3195
23522381728 rs754142725 0.000 nonsenseT1196
missenseALys [K]1196
contig referenceGGlu [E]1196
23522385732 rs112157044 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAGln [Q]2197
missenseTLeu [L]2197
contig referenceCPro [P]2197
23522386733 rs201252353 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAPro [P]3197
synonymousTPro [P]3197
contig referenceGPro [P]3197
23522388735 rs1436806517 N.D. missenseGArg [R]2198
contig referenceAGln [Q]2198
23522390737 rs758331193 0.000 missenseAAsn [N]1199
contig referenceGAsp [D]1199
23522390737 rs771657358 0.000byFreq -1201
23522391738 rs140477330 0.000byClusterWith1000GenomeData0.0002 missenseTVal [V]2199
contig referenceAAsp [D]2199
23522395742 rs746853919 0.000byFreq missenseAGlu [E]3200
missenseGGlu [E]3200
contig referenceTAsp [D]3200
23522398745 rs1332524635 N.D. synonymousCAsp [D]3201
contig referenceTAsp [D]3201
23522399746 rs1356759200 N.D. missenseGAsp [D]1202
contig referenceTTyr [Y]1202
23522401748 rs754801668 0.000byCluster nonsenseA3202
contig referenceCTyr [Y]3202
23522405752 rs993866486 N.D. frame shift-Ile [I]1204
contig referenceTTyr [Y]1204
23522405752 rs1272527052 N.D. missenseAAsn [N]1204
contig referenceTTyr [Y]1204
23522614753 rs1178095488 N.D. missenseTPhe [F]2204
contig referenceATyr [Y]2204
23522615754 rs781022783 N.D. synonymousCTyr [Y]3204
contig referenceTTyr [Y]3204
23522616755 rs768201328 0.000 frame shift-1205
contig referenceTGCys [C]1205
23522619758 rs752345580 0.000 nonsenseT1206
contig referenceGGlu [E]1206
23522621760 rs1226463594 N.D. missenseTAsp [D]3206
contig referenceGGlu [E]3206
23522622761 rs755766002 0.000 missenseTLeu [L]1207
contig referenceAMet [M]1207
23522626765 rs777318809 0.000byFreq missenseATyr [Y]2208
contig referenceGCys [C]2208
23522627766 rs1211267751 N.D. nonsenseA3208
contig referenceTCys [C]3208
23522628767 rs748700376 0.000 nonsenseT1209
contig referenceCGln [Q]1209
23522629768 rs1261168316 N.D. missenseGArg [R]2209
contig referenceAGln [Q]2209
23522630769 rs546298247 0.000byClusterWith1000GenomeData0.0002 synonymousAGln [Q]3209
contig referenceGGln [Q]3209
23522632771 rs1488059953 N.D. missenseCThr [T]2210
contig referenceAAsn [N]2210
23522639778 rs780638681 0.000 synonymousTPhe [F]3212
contig referenceCPhe [F]3212
23522640779 rs534035629 N.D.byCluster missenseCLeu [L]1213
contig referenceAIle [I]1213
23522641780 rs747527740 0.000 missenseCThr [T]2213
contig referenceTIle [I]2213
23522642781 rs1276092699 N.D. synonymousCIle [I]3213
contig referenceTIle [I]3213
23522650789 rs1472004359 N.D. missenseCSer [S]2216
contig referenceGCys [C]2216
23522652791 rs1449575614 N.D. missenseAThr [T]1217
contig referenceGAla [A]1217
23522655794 rs1163086137 N.D. missenseAThr [T]1218
missenseTSer [S]1218
contig referenceGAla [A]1218
23522657796 rs559670911 N.D.byCluster synonymousGAla [A]3218
contig referenceCAla [A]3218
23522659798 rs1427142577 N.D. missenseGArg [R]2219
contig referenceAHis [H]2219
23522663802 rs371827672 0.000byClusterbyFreq synonymousAGly [G]3220
synonymousTGly [G]3220
contig referenceGGly [G]3220
23522664803 rs201023018 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseGAla [A]1221
missenseTSer [S]1221
contig referenceCPro [P]1221
23522665804 rs1253043791 N.D. missenseTLeu [L]2221
contig referenceCPro [P]2221
23522666805 rs769957121 0.000 synonymousTPro [P]3221
contig referenceCPro [P]3221
23522667806 rs773503383 0.000byFreq missenseTSer [S]1222
contig referenceCPro [P]1222
23522670809 rs201384896 0.001byClusterbyFreq missenseTSer [S]1223
contig referenceAThr [T]1223
23522671810 rs1445512915 N.D. missenseTIle [I]2223
contig referenceCThr [T]2223
23522674813 rs766461745 0.000 missenseGCys [C]2224
contig referenceTPhe [F]2224
23522686825 rs751485824 0.000 missenseAAsn [N]2228
contig referenceGSer [S]2228
23522691830 rs765132334 N.D. missenseAMet [M]1230
contig referenceGVal [V]1230
23522699838 rs199698917 0.001byClusterbyFreqWith1000GenomeData0.0020 missenseCAsn [N]3232
contig referenceGLys [K]3232
23522700839 rs1283906767 N.D. missenseCArg [R]1233
contig referenceGGly [G]1233
23522702841 rs896791429 N.D. synonymousAGly [G]3233
contig referenceGGly [G]3233
23522703842 rs767273492 0.000 missenseTTyr [Y]1234
contig referenceCHis [H]1234
23522704843 rs752487350 0.000 missenseGArg [R]2234
contig referenceAHis [H]2234
23522705844 rs570441595 0.000byCluster missenseGGln [Q]3234
contig referenceCHis [H]3234
23522706845 rs1417325095 N.D. missenseTSer [S]1235
contig referenceCPro [P]1235
23522710849 rs777248510 0.000 missenseCThr [T]2236
contig referenceAAsn [N]2236
23522711850 rs1416627416 N.D. synonymousTAsn [N]3236
contig referenceCAsn [N]3236
23522712851 rs1187228739 N.D. missenseASer [S]1237
missenseTCys [C]1237
contig referenceCArg [R]1237
23522713852 rs373299038 0.000byClusterbyFreq missenseAHis [H]2237
missenseTLeu [L]2237
contig referenceGArg [R]2237
23522715854 rs1446908332 N.D. missenseGAla [A]1238
contig referenceTSer [S]1238
23522717856 rs778619597 0.000byFreq synonymousCSer [S]3238
contig referenceASer [S]3238
23522718857 rs747513493 0.000byFreq missenseTSer [S]1239
contig referenceGAla [A]1239
23522719858 rs1418547546 N.D. missenseAAsp [D]2239
contig referenceCAla [A]2239
23522721860 rs375616926 0.000byCluster missenseTPhe [F]1240
contig referenceCLeu [L]1240
23522723862 rs1386643304 N.D. synonymousALeu [L]3240
contig referenceCLeu [L]3240
23522729868 rs781671884 N.D. synonymousTLeu [L]3242
contig referenceGLeu [L]3242
23522730869 rs773645724 0.000 -1244
23522730869 rs1412435381 N.D. missenseTSer [S]1243
contig referenceCPro [P]1243
23522731870 rs1302280124 N.D. missenseAHis [H]2243
contig referenceCPro [P]2243
23522732871 rs748410299 0.000 synonymousTPro [P]3243
contig referenceCPro [P]3243
23522735874 rs539236774 N.D. synonymousGPro [P]3244
contig referenceAPro [P]3244
23522741880 rs770201277 0.000byFreq synonymousTLeu [L]3246
contig referenceGLeu [L]3246
23522745884 rs1350831317 N.D. missenseGVal [V]1248
contig referenceAIle [I]1248
23522747886 rs201114274 0.002 synonymousCIle [I]3248
contig referenceTIle [I]3248
23522750889 rs773251097 0.000 synonymousAGly [G]3249
contig referenceGGly [G]3249
23522757896 rs1213075929 N.D. missenseASer [S]1252
contig referenceGGly [G]1252
23522758897 rs879179015 N.D.byCluster missenseAAsp [D]2252
contig referenceGGly [G]2252
23522758897 rs1306990899 N.D. frame shift-Asp [D]2252
contig referenceGCGly [G]2252
23522761900 rs1312783731 N.D. missenseAAsn [N]2253
contig referenceTIle [I]2253
23522763902 rs1376126364 N.D. missenseTSer [S]1254
contig referenceCPro [P]1254
23522767906 rs763490029 0.000 frame shiftTGAGHis [H]2255
contig reference-Gln [Q]2255
23522768907 rs749583814 0.000byFreq synonymousAGln [Q]3255
contig referenceGGln [Q]3255
23522772911 rs770993453 0.000byClusterbyFreq missenseAArg [R]1257
missenseCArg [R]1257
missenseTTrp [W]1257
contig referenceGGly [G]1257
23522773912 rs1343072521 N.D. missenseAGlu [E]2257
contig referenceGGly [G]2257
23522775914 rs1279922934 N.D. missenseTPhe [F]1258
contig referenceCLeu [L]1258
23522778917 rs1411464633 N.D. missenseAArg [R]1259
contig referenceGGly [G]1259
23522788927 rs774458075 0.000 missenseGSer [S]2262
contig referenceAAsn [N]2262
23522789928 rs549727761 N.D. synonymousCAsn [N]3262
contig referenceTAsn [N]3262
23522792931 rs759451691 0.000byFreq synonymousAGlu [E]3263
contig referenceGGlu [E]3263
23522795934 rs868811295 N.D. synonymousGAla [A]3264
contig referenceAAla [A]3264
23522802941 rs767396501 0.000 missenseAMet [M]1267
synonymousTLeu [L]1267
contig referenceCLeu [L]1267
23522806945 rs369670492 0.000byClusterbyFreq missenseTLeu [L]2268
contig referenceCPro [P]2268
23522807946 rs569308746 0.000byCluster synonymousAPro [P]3268
synonymousTPro [P]3268
contig referenceGPro [P]3268
23522808947 rs373471296 0.000byCluster synonymousTLeu [L]1269
contig referenceCLeu [L]1269
23522811950 rs1335114751 N.D. missenseASer [S]1270
contig referenceGGly [G]1270
23522812951 rs1351737802 N.D. missenseAAsp [D]2270
contig referenceGGly [G]2270
23522821960 rs550842774 0.000With1000GenomeData0.0002 missenseCSer [S]2273
contig referenceTPhe [F]2273
23522822961 rs1165533170 N.D. synonymousCPhe [F]3273
contig referenceTPhe [F]3273
23522826965 rs757033244 0.000 missenseAThr [T]1275
missenseTSer [S]1275
contig referenceCPro [P]1275
23522828967 rs537958733 0.000byCluster synonymousCPro [P]3275
contig referenceTPro [P]3275
23522830969 rs750001060 0.000 missenseTPhe [F]2276
contig referenceATyr [Y]2276
23522832971 rs1406432659 N.D. missenseALys [K]1277
contig referenceGGlu [E]1277
23522835974 rs1285517531 N.D. missenseCArg [R]1278
contig referenceGGly [G]1278
23522838977 rs758003588 0.000byClusterbyFreq nonsenseT1279
contig referenceCArg [R]1279
23522839978 rs1329112975 N.D. missenseAGln [Q]2279
contig referenceGArg [R]2279
23522840979 rs368629956 0.000byClusterbyFreq synonymousGArg [R]3279
contig referenceAArg [R]3279
23522841980 rs748705274 0.000byFreq missenseGVal [V]1280
contig referenceAIle [I]1280
23522844983 rs1262051305 N.D. missenseGAla [A]1281
contig referenceAThr [T]1281
23522852991 rs186937636 0.001byClusterbyFreqWith1000GenomeData0.0006 synonymousTAsp [D]3283
contig referenceCAsp [D]3283
23522853992 rs751642339 0.000 nonsenseT1284
missenseALys [K]1284
contig referenceGGlu [E]1284
23522857996 rs1232702147 N.D. missenseTVal [V]2285
contig referenceAGlu [E]2285
235228611000 rs1284159992 N.D. synonymousCAla [A]3286
contig referenceAAla [A]3286
235228631002 rs1325974147 N.D. missenseAAsp [D]2287
contig referenceCAla [A]2287
235228691008 rs201626990 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseCThr [T]2289
missenseGSer [S]2289
contig referenceAAsn [N]2289
235228751014 rs1265587364 N.D. missenseTPhe [F]2291
contig referenceATyr [Y]2291
235228761015 rs554907629 0.000byClusterbyFreq synonymousTTyr [Y]3291
contig referenceCTyr [Y]3291
235228791018 rs376338646 0.000byClusterbyFreq synonymousTSer [S]3292
contig referenceCSer [S]3292
235228821021 rs745910443 0.000byFreq nonsenseA3293
missenseTCys [C]3293
contig referenceGTrp [W]3293
235228831022 rs368800063 0.000byCluster synonymousTLeu [L]1294
contig referenceCLeu [L]1294
235228851024 rs574730288 N.D. synonymousALeu [L]3294
contig referenceGLeu [L]3294
235232911025 rs374596343 0.000byClusterbyFreq missenseGVal [V]1295
contig referenceAIle [I]1295
235232921026 rs1366624231 N.D. missenseCThr [T]2295
contig referenceTIle [I]2295
235232931027 rs868120659 N.D.byCluster synonymousTIle [I]3295
contig referenceCIle [I]3295
235232951029 rs772988569 0.000 missenseTIle [I]2296
contig referenceCThr [T]2296
235232971031 rs200929830 N.D.With1000GenomeData missenseGGlu [E]1297
contig referenceALys [K]1297
235232991033 rs376760285 0.000byClusterbyFreq synonymousALys [K]3297
contig referenceGLys [K]3297
235232991033 rs752952955 0.000byFreq frame shift-Glu [E]3299
contig referenceGArg [R]3299
235233001034 rs765775694 0.000 missenseAArg [R]1298
contig referenceGGly [G]1298
235233021036 rs1431344067 N.D. synonymousCGly [G]3298
contig referenceGGly [G]3298
235233081042 rs1418029667 N.D. missenseALys [K]3300
contig referenceCAsn [N]3300
235233101044 rs751130639 0.000 missenseATyr [Y]2301
contig referenceGCys [C]2301
235233111045 rs892411580 N.D. synonymousTCys [C]3301
contig referenceCCys [C]3301
235233121046 rs200011811 0.001byClusterbyFreqWith1000GenomeData0.0014 missenseCHis [H]1302
contig referenceTTyr [Y]1302
235233151049 rs879105670 N.D. missenseALys [K]1303
contig referenceGGlu [E]1303
235233161050 rs764624712 0.000 missenseTVal [V]2303
contig referenceAGlu [E]2303
235233171051 rs754351359 0.000 synonymousAGlu [E]3303
contig referenceGGlu [E]3303
235233241058 rs757557427 0.000 missenseCHis [H]1306
contig referenceGAsp [D]1306
235233281062 rs1247357413 N.D. missenseAGlu [E]2307
contig referenceGGly [G]2307
235233291063 rs1291799818 N.D. synonymousCGly [G]3307
contig referenceAGly [G]3307
235233311065 rs1360961405 N.D. missenseGArg [R]2308
contig referenceALys [K]2308
235233331067 rs1424119665 N.D. missenseCHis [H]1309
contig referenceGAsp [D]1309
235233411075 rs779305303 0.000 synonymousTSer [S]3311
contig referenceCSer [S]3311
235233451079 rs1259750878 N.D. missenseAThr [T]1313
missenseCPro [P]1313
contig referenceGAla [A]1313
235233501084 rs750635579 0.000 missenseALys [K]3314
contig referenceCAsn [N]3314
235233511085 rs185155427 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCArg [R]1315
missenseGGly [G]1315
contig referenceTTrp [W]1315
235233541088 rs747062489 0.000 missenseGVal [V]1316
contig referenceAMet [M]1316
235243351094 rs755026890 0.000 missenseCHis [H]1318
contig referenceTTyr [Y]1318
235243371096 rs1421049181 N.D. nonsenseG3318
contig referenceTTyr [Y]3318
235243401099 rs1174207297 N.D. synonymousCVal [V]3319
contig referenceGVal [V]3319
235243471106 rs781489462 0.000 missenseAThr [T]1322
contig referenceGAla [A]1322
235243481107 rs1446448914 N.D. missenseTVal [V]2322
contig referenceCAla [A]2322
235243491108 rs748069287 0.000 synonymousTAla [A]3322
contig referenceCAla [A]3322
235243501109 rs202071047 0.000byClusterbyFreq missenseTTrp [W]1323
contig referenceCArg [R]1323
235243511110 rs183638311 0.004byClusterbyFreqWith1000GenomeData0.0010 missenseAGln [Q]2323
contig referenceGArg [R]2323
235243531112 rs560600725 0.004byFreqWith1000GenomeData0.0028 missenseAAsn [N]1324
contig referenceGAsp [D]1324
235243551114 rs1297041555 N.D. frame shift-Glu [E]3324
contig referenceTAsp [D]3324
235243581117 rs1373441707 N.D. missenseAGlu [E]3325
synonymousCAsp [D]3325
contig referenceTAsp [D]3325
235243641123 rs377334359 0.000byCluster synonymousAGlu [E]3327
contig referenceGGlu [E]3327
235243711130 rs1298729910 N.D. missenseAMet [M]1330
contig referenceCLeu [L]1330
235243761135 rs188381798 0.002byClusterbyFreqWith1000GenomeData0.0010 synonymousAVal [V]3331
synonymousTVal [V]3331
contig referenceGVal [V]3331
235243781137 rs1223870511 N.D. missenseAAsp [D]2332
contig referenceCAla [A]2332
235243951154 rs1324215284 N.D. nonsenseT1338
contig referenceCGln [Q]1338
235243971156 rs373277404 0.000byCluster missenseCHis [H]3338
contig referenceGGln [Q]3338
235243981157 rs745561508 0.000 missenseGVal [V]1339
contig referenceAIle [I]1339
235243991158 rs200870835 0.004byClusterbyFreqWith1000GenomeData0.0008 missenseAAsn [N]2339
contig referenceTIle [I]2339
235244051164 rs1203754097 N.D. missenseGCys [C]2341
contig referenceATyr [Y]2341
235244061165 rs371125319 0.000byCluster synonymousCTyr [Y]3341
contig referenceTTyr [Y]3341
235244071166 rs193211869 0.004byClusterbyFreqWith1000GenomeData0.0016 missenseGGly [G]1342
contig referenceAArg [R]1342
235244101169 rs765683826 0.000byFreq missenseCPro [P]1343
missenseGAla [A]1343
contig referenceAThr [T]1343
235244121171 rs1268422518 N.D. synonymousTThr [T]3343
contig referenceCThr [T]3343
235244161175 rs763308508 0.000byFreq nonsenseT1345
contig referenceCArg [R]1345
235244171176 rs200386479 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2345
missenseTLeu [L]2345
contig referenceGArg [R]2345
235244191178 rs1189308207 N.D. missenseAIle [I]1346
contig referenceGVal [V]1346
235244221181 rs1252844208 N.D. missenseGVal [V]1347
contig referenceAIle [I]1347
235244241183 rs1212241635 N.D. synonymousCIle [I]3347
contig referenceTIle [I]3347
235244321191 rs201401823 0.000byClusterbyFreq missenseAAsp [D]2350
missenseCAla [A]2350
contig referenceGGly [G]2350
235244391198 rs1409837495 N.D. missenseTAsp [D]3352
contig referenceAGlu [E]3352
235244481207 rs548503312 0.000With1000GenomeData0.0002 synonymousTVal [V]3355
contig referenceCVal [V]3355
235244511210 rs767683152 0.000 nonsenseA3356
contig referenceGTrp [W]3356
235244521211 rs1274116636 N.D. missenseAAsn [N]1357
contig referenceTTyr [Y]1357
235244541213 rs1443699559 N.D. synonymousCTyr [Y]3357
contig referenceTTyr [Y]3357
235244551214 rs1005579393 N.D. frame shift-Met [M]1359
contig referenceGAsp [D]1359
235244571216 rs561830356 0.000byFreqWith1000GenomeData0.0002 synonymousAGly [G]3358
contig referenceGGly [G]3358
235244591218 rs1219562300 N.D. missenseGGly [G]2359
contig referenceAAsp [D]2359
235244601219 rs756297296 0.000byFreq missenseAGlu [E]3359
contig referenceTAsp [D]3359
235244661225 rs777790549 0.000byFreq synonymousTTyr [Y]3361
contig referenceCTyr [Y]3361
235244671226 rs184753683 0.000byClusterbyFreqWith1000GenomeData missenseASer [S]1362
contig referenceGGly [G]1362
235244681227 rs757065734 0.000 missenseAAsp [D]2362
missenseTVal [V]2362
contig referenceGGly [G]2362
235244701229 rs367796430 0.000byCluster nonsenseT1363
contig referenceCGln [Q]1363
235244721231 rs745500485 0.000 missenseTHis [H]3363
contig referenceGGln [Q]3363
235244761235 rs1213846147 N.D. synonymousTLeu [L]1365
contig referenceCLeu [L]1365
235244781237 rs1273595460 N.D. frame shift-Ala [A]3366
contig referenceGGly [G]3366
235244791238 rs1301101039 N.D. missenseCArg [R]1366
contig referenceGGly [G]1366
235244831242 rs1309239996 N.D. missenseAAsn [N]2367
missenseGSer [S]2367
contig referenceTIle [I]2367
235244881247 rs1444265182 N.D. missenseAArg [R]1369
contig referenceTTrp [W]1369
235244911250 rs527518989 0.000byFreqWith1000GenomeData0.0002 missenseCArg [R]1370
missenseTCys [C]1370
contig referenceGGly [G]1370
235244921251 rs1291172832 N.D. missenseAAsp [D]2370
missenseTVal [V]2370
contig referenceGGly [G]2370
235244931252 rs1490555656 N.D. synonymousAGly [G]3370
contig referenceCGly [G]3370
235244961255 rs1038548824 N.D. missenseGArg [R]3371
contig referenceCSer [S]3371
235245121271 rs775142209 0.000 missenseTPhe [F]1377
contig referenceCLeu [L]1377
235245141273 rs371239254 0.000byCluster synonymousTLeu [L]3377
contig referenceCLeu [L]3377
235245171276 rs1475288088 N.D. frame shift-Gln [Q]3379
contig referenceGAla [A]3379
235245221281 rs376188991 0.000byClusterbyFreq missenseAGlu [E]2380
contig referenceGGly [G]2380
235245231282 rs1399990565 N.D. synonymousCGly [G]3380
contig referenceGGly [G]3380
235245241283 rs773709600 0.000byFreq missenseGGly [G]1381
synonymousCArg [R]1381
contig referenceAArg [R]1381
235245261285 rs1404115561 N.D. synonymousGArg [R]3381
contig referenceAArg [R]3381
235245271286 rs1161084638 N.D. missenseALys [K]1382
contig referenceGGlu [E]1382
235262351289 rs1323515454 N.D. missenseTSer [S]1383
contig referenceCPro [P]1383
235262361290 rs1286686864 N.D. missenseGArg [R]2383
contig referenceCPro [P]2383
235262381292 rs761047831 0.000 missenseCGln [Q]1384
contig referenceALys [K]1384
235262391293 rs1203479965 N.D. missenseGArg [R]2384
contig referenceALys [K]2384
235262411295 rs1209433263 N.D. missenseGAla [A]1385
contig referenceCPro [P]1385
235262421296 rs764199648 0.000 missenseTLeu [L]2385
contig referenceCPro [P]2385
235262461300 rs753911974 0.000 missenseTAsp [D]3386
contig referenceGGlu [E]3386
235262511305 rs1184864550 N.D. missenseCPro [P]2388
contig referenceAHis [H]2388
235262541308 rs1361565393 N.D. missenseTLeu [L]2389
contig referenceCPro [P]2389
235262551309 rs761970635 0.000byFreq synonymousGPro [P]3389
contig referenceAPro [P]3389
235262561310 rs765042027 0.000 missenseCArg [R]1390
contig referenceTCys [C]1390
235262631317 rs1256915909 N.D. missenseTLeu [L]2392
contig referenceCSer [S]2392
235262691323 rs750377658 0.000 missenseCSer [S]2394
contig referenceGCys [C]2394
235262711325 rs1468007509 N.D. synonymousTLeu [L]1395
contig referenceCLeu [L]1395
235262751329 rs758131778 0.000 missenseAAsp [D]2396
missenseTVal [V]2396
contig referenceCAla [A]2396
235262811335 rs367619906 0.000byClusterbyFreq missenseTLeu [L]2398
contig referenceCSer [S]2398
235262881342 rs201275097 0.003byClusterbyFreqWith1000GenomeData0.0012 missenseCHis [H]3400
synonymousAGln [Q]3400
contig referenceGGln [Q]3400
235262931347 rs754675231 0.000 missenseATyr [Y]2402
contig referenceTPhe [F]2402
235263001354 rs1335235909 N.D. missenseGArg [R]3404
synonymousCSer [S]3404
contig referenceTSer [S]3404
235263061360 rs1239944885 N.D. missenseGGln [Q]3406
contig referenceTHis [H]3406
235263071361 rs780922082 0.000 missenseAIle [I]1407
contig referenceGVal [V]1407
235263081362 rs747572279 0.000byFreq missenseCAla [A]2407
contig referenceTVal [V]2407
235263101364 rs528121779 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]1408
contig referenceGGlu [E]1408
235263121366 rs779233922 0.000 missenseTAsp [D]3408
contig referenceAGlu [E]3408
235263131367 rs376002725 0.000byClusterbyFreq missenseTCys [C]1409
contig referenceCArg [R]1409
235263141368 rs772564979 0.000byFreq missenseAHis [H]2409
contig referenceGArg [R]2409
235263241378 rs776033510 0.000 synonymousTSer [S]3412
contig referenceCSer [S]3412
235263291383 rs1250509567 N.D. missenseCPro [P]2414
contig referenceAGln [Q]2414
235263311385 rs747208610 0.000 missenseCHis [H]1415
contig referenceAAsn [N]1415
235263341388 rs768708805 0.000 missenseGVal [V]1416
contig referenceTPhe [F]1416
235263401394 rs776940752 0.000 missenseAArg [R]1418
contig referenceGGly [G]1418
235263411395 rs1050685021 N.D. missenseCAla [A]2418
contig referenceGGly [G]2418
235263441398 rs761731760 0.000 missenseTLeu [L]2419
contig referenceCPro [P]2419
235263461400 rs1175389023 N.D. missenseGAla [A]1420
contig referenceTSer [S]1420
235263481402 rs369549187 0.000byClusterbyFreq synonymousCSer [S]3420
synonymousGSer [S]3420
contig referenceTSer [S]3420
235263491403 rs1470880410 N.D. missenseAThr [T]1421
contig referenceGAla [A]1421
235263501404 rs762944846 0.000 missenseTVal [V]2421
contig referenceCAla [A]2421
235263541408 rs865955862 N.D.byCluster missenseTSer [S]3422
contig referenceAArg [R]3422
235263581412 rs778693644 0.000 -1425
235263581412 rs890402864 N.D. missenseTPhe [F]1424
contig referenceCLeu [L]1424
235263641418 rs180832695 0.000With1000GenomeData0.0002 nonsenseT1426
contig referenceCGln [Q]1426
235263661420 rs186121405 0.003byClusterbyFreqWith1000GenomeData0.0048 synonymousGGln [Q]3426
contig referenceAGln [Q]3426
235263671421 rs751306189 0.000 missenseTSer [S]1427
contig referenceCPro [P]1427
235263681422 rs754835809 0.000 missenseTLeu [L]2427
contig referenceCPro [P]2427
235263711425 rs1386157140 N.D. missenseCAla [A]2428
contig referenceAGlu [E]2428
235263731427 rs1157269760 N.D. missenseTTyr [Y]1429
contig referenceAAsn [N]1429
235263771431 rs868560615 N.D. missenseTLeu [L]2430
contig referenceCPro [P]2430
235263821436 rs767011786 0.000 missenseGAla [A]1432
contig referenceCPro [P]1432
235263831437 rs1225780060 N.D. missenseTLeu [L]2432
contig referenceCPro [P]2432
235263851439 rs1251212545 N.D. missenseAArg [R]1433
missenseCArg [R]1433
contig referenceGGly [G]1433
235263871441 rs752410339 0.000 synonymousAGly [G]3433
synonymousTGly [G]3433
contig referenceGGly [G]3433
235263881442 rs755568378 0.000 missenseAAsn [N]1434
contig referenceGAsp [D]1434
235263891443 rs1369140663 N.D. frame shift-Val [V]2434
contig referenceAAsp [D]2434
235263911445 rs1186843695 N.D. missenseALys [K]1435
contig referenceCGln [Q]1435
235263921446 rs1276190353 N.D. missenseGArg [R]2435
contig referenceAGln [Q]2435
235263991453 rs1367881495 N.D. synonymousAGln [Q]3437
contig referenceGGln [Q]3437
235264001454 rs1422612436 N.D. missenseCGln [Q]1438
contig referenceGGlu [E]1438
235264011455 rs1489680591 N.D. missenseGGly [G]2438
contig referenceAGlu [E]2438
235264021456 rs777413319 0.000byFreq missenseTAsp [D]3438
synonymousAGlu [E]3438
contig referenceGGlu [E]3438
235264051459 rs1269243603 N.D. missenseCHis [H]3439
contig referenceGGln [Q]3439
235264091463 rs1434658595 N.D. missenseCHis [H]1441
contig referenceTTyr [Y]1441
235264111465 rs1388873734 N.D. synonymousCTyr [Y]3441
contig referenceTTyr [Y]3441
235264151469 rs533413700 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]1443
missenseCHis [H]1443
contig referenceGAsp [D]1443
235264161470 rs550359905 0.000With1000GenomeData0.0002 missenseCAla [A]2443
contig referenceAAsp [D]2443
235264181472 rs1462462836 N.D. missenseAThr [T]1444
contig referenceCPro [P]1444
235264201474 rs747335393 0.000byFreq synonymousCPro [P]3444
contig referenceAPro [P]3444
235264221476 rs377356315 N.D. missenseCPro [P]2445
contig referenceAHis [H]2445
235264271481 rs769065945 0.000byFreq missenseTCys [C]1447
contig referenceCArg [R]1447
235264281482 rs776657408 0.000byClusterbyFreq missenseAHis [H]2447
missenseTLeu [L]2447
contig referenceGArg [R]2447
235264481502 rs1229596657 N.D. nonsenseT1454
contig referenceCGln [Q]1454
235264501504 rs748458215 0.000byFreq synonymousGGln [Q]3454
contig referenceAGln [Q]3454
235264531507 rs769758225 0.000byFreq missenseCAsp [D]3455
missenseTAsp [D]3455
synonymousAGlu [E]3455
contig referenceGGlu [E]3455
235264551509 rs766265250 0.000byFreq missenseGSer [S]2456
contig referenceTIle [I]2456
235264561510 rs774278124 0.000 missenseGMet [M]3456
synonymousTIle [I]3456
contig referenceCIle [I]3456
235264611515 rs375150557 0.000byCluster missenseGGly [G]2458
contig referenceAGlu [E]2458
235264641518 rs1327487744 N.D. missenseALys [K]2459
contig referenceGArg [R]2459
235264651519 rs112001060 0.000byCluster missenseTSer [S]3459
synonymousAArg [R]3459
contig referenceGArg [R]3459
235264671521 rs1299100884 N.D. missenseTPhe [F]2460
contig referenceCSer [S]2460
235264731527 rs1356621782 N.D. missenseGArg [R]2462
contig referenceTLeu [L]2462
235264741528 rs369950735 0.000byCluster synonymousTLeu [L]3462
contig referenceCLeu [L]3462
235264771531 rs1292024125 N.D. missenseCPhe [F]3463
contig referenceGLeu [L]3463
235264811535 rs1327119834 N.D. missenseGGlu [E]1465
contig referenceALys [K]1465
235264841538 rs752290942 0.000 missenseGGly [G]1466
synonymousCArg [R]1466
contig referenceAArg [R]1466
235264861540 rs755834976 0.000 missenseTSer [S]3466
synonymousAArg [R]3466
contig referenceGArg [R]3466
235264881542 rs763679201 0.000 missenseTIle [I]2467
contig referenceCThr [T]2467
235264901544 rs753345110 0.000byFreq missenseCArg [R]1468
contig referenceTTrp [W]1468
235264951549 rs756857261 0.000 synonymousAGln [Q]3469
contig referenceGGln [Q]3469
235264991553 rs570195744 0.000With1000GenomeData0.0002 missenseALys [K]1471
contig referenceGGlu [E]1471
235265011555 rs1444052979 N.D. synonymousAGlu [E]3471
contig referenceGGlu [E]3471
235265151569 rs1024208434 N.D. missenseCSer [S]2476
contig referenceTPhe [F]2476
235265191573 rs373336006 0.000byClusterbyFreq synonymousCSer [S]3477
contig referenceTSer [S]3477
235265221576 rs755283417 0.000 synonymousTSer [S]3478
contig referenceCSer [S]3478
235265261580 rs1451935921 N.D. missenseAThr [T]1480
missenseTSer [S]1480
contig referenceCPro [P]1480
235265321586 rs1192704874 N.D. missenseAArg [R]1482
contig referenceGGly [G]1482
235265331587 rs866962384 N.D. missenseAGlu [E]2482
contig referenceGGly [G]2482
235265381592 rs781668982 0.000 missenseGVal [V]1484
contig referenceAMet [M]1484
235265431597 rs748287281 0.000 synonymousAGly [G]3485
contig referenceGGly [G]3485
235265441598 rs770010930 0.000 missenseTCys [C]1486
contig referenceASer [S]1486
235265451599 rs1201380841 N.D. missenseCThr [T]2486
contig referenceGSer [S]2486
235265471601 rs778002286 0.000 missenseCArg [R]1487
contig referenceTCys [C]1487
235265511605 rs745597439 0.000 frame shiftASer [S]2489
contig reference-Val [V]2489
235265601614 rs982303249 N.D. missenseCThr [T]2491
contig referenceALys [K]2491
235265621616 rs1266170714 N.D. missenseGGly [G]1492
contig referenceAArg [R]1492
235265651619 rs1244544566 N.D. missenseGVal [V]1493
contig referenceAIle [I]1493
235265671621 rs749301688 0.000 synonymousTIle [I]3493
contig referenceAIle [I]3493
235265691623 rs200176762 0.000byClusterbyFreq missenseGArg [R]2494
contig referenceTMet [M]2494
235265711625 rs1236447892 N.D. -1497
235265761630 rs758187019 0.000byFreq -3497
235265791633 rs536047035 0.000byFreqWith1000GenomeData0.0002 missenseCAsp [D]3497
missenseTAsp [D]3497
contig referenceGGlu [E]3497
235265831637 rs549095564 0.000With1000GenomeData0.0002 missenseGGly [G]1499
contig referenceAArg [R]1499
235265841638 rs775407001 0.000byFreq missenseALys [K]2499
missenseTIle [I]2499
contig referenceGArg [R]2499
235265871641 rs763795833 0.000byFreq missenseGArg [R]2500
missenseTIle [I]2500
contig referenceCThr [T]2500
235265921646 rs753543119 0.000 nonsenseT1502
missenseALys [K]1502
contig referenceCGln [Q]1502
235265941648 rs1227590418 N.D. synonymousAGln [Q]3502
contig referenceGGln [Q]3502
235265951649 rs1416053295 N.D. missenseGGlu [E]1503
contig referenceALys [K]1503
235265981652 rs761346163 0.000byFreq missenseAMet [M]1504
missenseCLeu [L]1504
contig referenceGVal [V]1504
235266001654 rs1158635267 N.D. synonymousTVal [V]3504
contig referenceGVal [V]3504
235266071661 rs1339894500 N.D. missenseAArg [R]1507
contig referenceGGly [G]1507
235266111665 rs764897822 0.000 missenseGSer [S]2508
contig referenceAAsn [N]2508
235266121666 rs752003230 0.000 synonymousTAsn [N]3508
contig referenceCAsn [N]3508
235266131667 rs1335171295 N.D. missenseCPro [P]1509
contig referenceAThr [T]1509
235266141668 rs1405949228 N.D. missenseTIle [I]2509
contig referenceCThr [T]2509
235266161670 rs755549279 0.000byFreq missenseCArg [R]1510
contig referenceGGly [G]1510
235266171671 rs753066478 0.000byFreq missenseAAsp [D]2510
contig referenceGGly [G]2510
235266271681 rs565823520 0.000byFreqWith1000GenomeData0.0002 missenseGLeu [L]3513
contig referenceTPhe [F]3513
235266301684 rs779742465 0.000 frame shift-3516
contig referenceGVal [V]3516