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dbSNP

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SNP linked to Gene (geneID:3508) 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): 8
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_002180.2plus strandNP_002171.2forwardNT_167190.2GRCh38.p7<- currently shown
XM_017017671.1plus strandXP_016873160.1forwardNT_167190.2GRCh38.p7View snp on GeneModel
XM_017017670.1plus strandXP_016873159.1forwardNT_167190.2GRCh38.p7View snp on GeneModel
XM_017017669.1plus strandXP_016873158.1forwardNT_167190.2GRCh38.p7View snp on GeneModel
XM_011544994.1plus strandXP_011543296.1forwardNT_167190.2GRCh38.p7View snp on GeneModel
XM_005273976.1plus strandXP_005274033.1forwardNT_167190.2GRCh38.p7View snp on GeneModel
XM_005273975.3plus strandXP_005274032.1forwardNT_167190.2GRCh38.p7View snp on GeneModel
XM_005273974.2plus strandXP_005274031.1forwardNT_167190.2GRCh38.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_167190.2NM_002180.2NP_002171.2forwardplus strand1167, 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
68903956106 rs778232785 0.000byFreq missenseAThr [T]12
missenseTSer [S]12
contig referenceGAla [A]12
68903958108 rs1168042239 N.D. synonymousGAla [A]32
synonymousTAla [A]32
contig referenceCAla [A]32
68903959109 rs751910797 0.000byFreq missenseGAla [A]13
contig referenceTSer [S]13
68903960110 rs757674740 0.000 missenseTLeu [L]23
contig referenceCSer [S]23
68903961111 rs1324605518 N.D. synonymousASer [S]33
contig referenceGSer [S]33
68903962112 rs1333262915 N.D. missenseAThr [T]14
missenseTSer [S]14
contig referenceGAla [A]14
68903963113 rs781778972 0.000byFreq missenseAGlu [E]24
contig referenceCAla [A]24
68903964114 rs1164139939 N.D. frame shift-Leu [L]35
contig referenceAAla [A]35
68903965115 rs1283219942 N.D. missenseTSer [S]15
contig referenceGAla [A]15
68903967117 rs1318640024 N.D. synonymousAAla [A]35
contig referenceTAla [A]35
68903970120 rs1422032150 N.D. synonymousAVal [V]36
contig referenceGVal [V]36
68903974124 rs1220579518 N.D. missenseCArg [R]18
contig referenceASer [S]18
68903982132 rs746372819 0.000byFreq synonymousAVal [V]310
contig referenceGVal [V]310
68903984134 rs1338966099 N.D. missenseTIle [I]211
contig referenceCThr [T]211
68903985135 rs1210731074 N.D. synonymousGThr [T]311
contig referenceCThr [T]311
68903993143 rs769430879 0.000 missenseCPro [P]214
contig referenceTLeu [L]214
68903995145 rs779373032 0.000 missenseTTyr [Y]115
contig referenceGAsp [D]115
68903998148 rs1334447515 N.D. missenseGVal [V]116
contig referenceCLeu [L]116
68904001151 rs748989565 0.000byFreq missenseAMet [M]117
missenseGVal [V]117
contig referenceCLeu [L]117
68904006156 rs1263848790 N.D. missenseTAsp [D]318
contig referenceGGlu [E]318
68904007157 rs1478784022 N.D. missenseAIle [I]119
contig referenceCLeu [L]119
68904009159 rs1249463 0.366byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.3249 synonymousCLeu [L]319
contig referenceTLeu [L]319
68904010160 rs774019567 0.000byFreq missenseALys [K]120
missenseCGln [Q]120
contig referenceGGlu [E]120
68904013163 rs1242021205 N.D. missenseGGly [G]121
contig referenceAArg [R]121
68904016166 rs771853806 0.000 missenseTTyr [Y]122
contig referenceGAsp [D]122
68904018168 rs773143326 0.000byFreq missenseGGlu [E]322
contig referenceCAsp [D]322
68904020170 rs760551395 0.000 missenseTVal [V]223
contig referenceCAla [A]223
68904024174 rs985694768 N.D. synonymousAGlu [E]324
contig referenceGGlu [E]324
68904026176 rs560751013 0.005byFreqWith1000GenomeData0.0024 missenseGGly [G]225
contig referenceTVal [V]225
68904031181 rs1315453807 N.D. missenseCGln [Q]127
contig referenceGGlu [E]127
68904033183 rs1393255305 N.D. synonymousAGlu [E]327
contig referenceGGlu [E]327
68904035185 rs892885630 N.D. missenseAHis [H]228
contig referenceGArg [R]228
68906069189 rs1157337995 N.D. missenseCSer [S]329
contig referenceGArg [R]329
68906071191 rs772945179 0.000byFreq missenseGCys [C]230
missenseTPhe [F]230
contig referenceCSer [S]230
68906077197 rs749258691 0.000byCluster -233
68906077197 rs1393984692 N.D. missenseGArg [R]232
contig referenceAGln [Q]232
68906078198 rs1467043860 N.D. missenseCHis [H]332
contig referenceGGln [Q]332
68906084204 rs1304643636 N.D. synonymousTAsn [N]334
contig referenceCAsn [N]334
68906085205 rs199586231 0.000byClusterbyFreq missenseGVal [V]135
contig referenceAIle [I]135
68906091211 rs1452109622 N.D. synonymousTLeu [L]137
contig referenceCLeu [L]137
68906094214 rs1465796109 N.D. missenseGGlu [E]138
contig referenceALys [K]138
68906102222 rs1332319177 N.D. frame shift-Arg [R]341
contig referenceCGln [Q]341
68906102222 rs1428031096 N.D. synonymousTLeu [L]340
contig referenceCLeu [L]340
68906109229 rs200089714 0.000byClusterbyFreq nonsenseT143
contig referenceCArg [R]143
68906110230 rs1021399630 N.D. missenseAGln [Q]243
contig referenceGArg [R]243
68906111231 rs368706911 0.000byCluster synonymousGArg [R]343
contig referenceAArg [R]343
68906113233 rs1306074396 N.D. missenseTVal [V]244
contig referenceGGly [G]244
68906114234 rs78807992 0.001byClusterbyFreqWith1000GenomeData0.0022 synonymousTGly [G]344
contig referenceCGly [G]344
68906115235 rs774440957 0.000 missenseAMet [M]145
contig referenceGVal [V]145
68906117237 rs1253673311 N.D. synonymousAVal [V]345
contig referenceGVal [V]345
68906118238 rs982646623 N.D. missenseGGly [G]146
contig referenceTCys [C]146
68906125245 rs144361739 0.000With1000GenomeData0.0004 missenseAGln [Q]248
contig referenceTLeu [L]248
68906129249 rs750773675 0.000 missenseCAsn [N]349
contig referenceGLys [K]349
68906132252 rs756513980 0.000byFreq synonymousCLeu [L]350
contig referenceGLeu [L]350
68906133253 rs117061430 0.012byClusterbyFreqWith1000GenomeData0.0040 nonsenseT151
missenseGGlu [E]151
contig referenceCGln [Q]151
68906134254 rs375071662 0.000byCluster missenseCPro [P]251
contig referenceAGln [Q]251
68906136256 rs926718557 N.D. missenseAIle [I]152
contig referenceGVal [V]152
68906140260 rs1178878248 N.D. missenseTPhe [F]253
contig referenceCSer [S]253
68906141261 rs778432921 0.000byFreq synonymousTSer [S]353
contig referenceCSer [S]353
68906144264 rs747822666 0.000byFreq synonymousTSer [S]354
contig referenceCSer [S]354
68906145265 rs1479493690 N.D. nonsenseT155
contig referenceCGln [Q]155
68906147267 rs201692151 0.001byClusterbyFreq missenseCHis [H]355
contig referenceGGln [Q]355
68906148268 rs201649839 0.000byCluster missenseASer [S]156
missenseTCys [C]156
contig referenceCArg [R]156
68906149269 rs571887680 0.000byCluster missenseAHis [H]256
contig referenceGArg [R]256
68906151271 rs770746972 0.000 missenseCPro [P]157
missenseGAla [A]157
contig referenceAThr [T]157
68906152272 rs1368044595 N.D. missenseGSer [S]257
contig referenceCThr [T]257
68906157277 rs1388384906 N.D. missenseAMet [M]159
synonymousTLeu [L]159
contig referenceCLeu [L]159
68906159279 rs776499527 0.000 synonymousALeu [L]359
synonymousCLeu [L]359
contig referenceGLeu [L]359
68906161281 rs940040078 N.D. missenseGCys [C]260
contig referenceATyr [Y]260
68906162282 rs34617762 0.018byClusterbyFreqWith1000GenomeData0.0048 synonymousTTyr [Y]360
contig referenceCTyr [Y]360
68906165285 rs1259482883 N.D. synonymousCGly [G]361
contig referenceAGly [G]361
68906166286 rs768631087 0.000 missenseGGly [G]162
synonymousAArg [R]162
contig referenceCArg [R]162
68906167287 rs774522176 0.000 missenseAGln [Q]262
contig referenceGArg [R]262
68906168288 rs1359229269 N.D. -364
68906171291 rs1343388202 N.D. synonymousCLeu [L]363
contig referenceGLeu [L]363
68906175295 rs920864493 N.D. missenseTPhe [F]165
contig referenceGVal [V]165
68906184304 rs1251046876 N.D. missenseALys [K]168
contig referenceGGlu [E]168
68906186306 rs1470672532 N.D. missenseTAsp [D]368
contig referenceGGlu [E]368
68906189309 rs188719450 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTPro [P]369
contig referenceCPro [P]369
68906190310 rs563922049 0.000byFreqWith1000GenomeData0.0006 missenseGGly [G]170
contig referenceAArg [R]170
68906193313 rs773543257 0.000byFreq nonsenseT171
synonymousAArg [R]171
contig referenceCArg [R]171
68906194314 rs766757770 0.000byFreq missenseTLeu [L]271
contig referenceGArg [R]271
68906197317 rs754319597 0.000 missenseGCys [C]272
contig referenceATyr [Y]272
68906198318 rs755468547 0.000 nonsenseA372
synonymousTTyr [Y]372
contig referenceCTyr [Y]372
68906199319 rs376644749 0.000byCluster missenseAArg [R]173
contig referenceGGly [G]173
68906203323 rs1170021907 N.D. missenseTPhe [F]274
contig referenceCSer [S]274
68906205325 rs2228206 0.006byClusterbyFreqWith1000GenomeData0.0064 missenseAThr [T]175
contig referenceGAla [A]175
68906206326 rs1444267409 N.D. missenseTVal [V]275
contig referenceCAla [A]275
68906207327 rs762291036 0.000byClusterbyFreq synonymousAAla [A]375
synonymousTAla [A]375
contig referenceGAla [A]375
68906211331 rs778774954 N.D. missenseCPro [P]177
contig referenceGAla [A]177
68906216336 rs746660193 0.000 synonymousCLeu [L]378
contig referenceTLeu [L]378
68906217337 rs145237838 0.000byCluster missenseTSer [S]179
contig referenceCPro [P]179
68906219339 rs1279533864 N.D. synonymousGPro [P]379
contig referenceCPro [P]379
68906223343 rs1249076926 N.D. frame shift-Thr [T]181
contig referenceAAsn [N]181
68906224344 rs757006949 0.000 missenseGSer [S]281
contig referenceAAsn [N]281
68906233353 rs549801214 0.000With1000GenomeData0.0002 missenseTIle [I]284
contig referenceCThr [T]284
68906236356 rs745812844 0.000byClusterbyFreq missenseTPhe [F]285
contig referenceCSer [S]285
68908152366 rs753346884 0.000 synonymousTIle [I]388
contig referenceCIle [I]388
68908153367 rs1384314579 N.D. missenseAMet [M]189
contig referenceGVal [V]189
68908155369 rs932085759 N.D. synonymousCVal [V]389
synonymousTVal [V]389
contig referenceGVal [V]389
68908164378 rs146217031 0.001byClusterbyFreqWith1000GenomeData0.0016 synonymousTTyr [Y]392
contig referenceCTyr [Y]392
68908165379 rs200897747 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]193
missenseCHis [H]193
contig referenceGAsp [D]193
68908168382 rs144408204 0.000 missenseCPro [P]194
contig referenceGAla [A]194
68908172386 rs372940951 0.000byClusterbyFreq missenseTVal [V]295
contig referenceCAla [A]295
68908174388 rs760004229 0.000byFreq missenseGAsp [D]196
contig referenceAAsn [N]196
68908180394 rs770952569 0.000byFreq frame shift-Ser [S]198
contig reference(7bp)Gly [G]198
68908182396 rs770139089 0.000 synonymousTGly [G]398
contig referenceCGly [G]398
68908187401 rs774312316 0.000byFreq frame shiftTHis [H]2100
contig reference-Gln [Q]2100
68908188402 rs1230588649 N.D. synonymousAGln [Q]3100
contig referenceGGln [Q]3100
68908191405 rs759736658 0.000byFreq frame shift-Pro [P]3102
contig referenceGAla [A]3102
68908191405 rs1281690554 N.D. synonymousALeu [L]3101
contig referenceGLeu [L]3101
68908192406 rs35610053 0.001byClusterbyFreqWith1000GenomeData0.0018 missenseTSer [S]1102
contig referenceGAla [A]1102
68908193407 rs763391719 0.000byFreq missenseAAsp [D]2102
missenseTVal [V]2102
contig referenceCAla [A]2102
68908194408 rs1279336027 N.D. synonymousTAla [A]3102
contig referenceCAla [A]3102
68908200414 rs751040642 0.000byCluster synonymousAGly [G]3104
contig referenceGGly [G]3104
68908203417 rs1201956816 N.D. synonymousAIle [I]3105
contig referenceCIle [I]3105
68908206420 rs761196482 0.000 synonymousALeu [L]3106
contig referenceGLeu [L]3106
68908208422 rs767244307 0.000byFreq missenseAAsn [N]2107
missenseTIle [I]2107
contig referenceCThr [T]2107
68908210424 rs750026880 0.000 missenseTTrp [W]1108
contig referenceCArg [R]1108
68908211425 rs756037055 0.000 missenseAGln [Q]2108
contig referenceGArg [R]2108
68908213427 rs141451851 0.000byCluster missenseCLeu [L]1109
contig referenceGVal [V]1109
68908214428 rs1237792581 N.D. missenseGGly [G]2109
contig referenceTVal [V]2109
68908215429 rs1399842198 N.D. synonymousAVal [V]3109
contig referenceCVal [V]3109
68908216430 rs753853063 0.000 missenseGAla [A]1110
contig referenceAThr [T]1110
68908226440 rs147001168 0.000byCluster missenseTLeu [L]2113
contig referenceCSer [S]2113
68908227441 rs150937080 0.000byClusterbyFreq synonymousASer [S]3113
contig referenceGSer [S]3113
68908230444 rs756861635 N.D. synonymousAVal [V]3114
contig referenceCVal [V]3114
68908232446 rs181657861 0.002byClusterbyFreqWith1000GenomeData0.0024 missenseTMet [M]2115
contig referenceCThr [T]2115
68908233447 rs747166731 0.000 synonymousAThr [T]3115
contig referenceGThr [T]3115
68908234448 rs554952116 0.000With1000GenomeData0.0002 missenseAMet [M]1116
contig referenceGVal [V]1116
68908238452 rs1034569953 N.D. missenseTVal [V]2117
contig referenceCAla [A]2117
68908240454 rs1463030139 N.D. missenseGVal [V]1118
contig referenceTPhe [F]1118
68908242456 rs534344339 0.000byClusterbyFreq missenseGLeu [L]3118
contig referenceTPhe [F]3118
68908244458 rs1192852045 N.D. missenseGGly [G]2119
missenseTVal [V]2119
contig referenceAAsp [D]2119
68908246460 rs1243611947 N.D. missenseALys [K]1120
contig referenceGGlu [E]1120
68908250464 rs2228205 0.001byClusterbyFreqWith1000GenomeData0.0016 missenseTPhe [F]2121
contig referenceCSer [S]2121
68908254468 rs144401213 0.006byClusterbyFreqWith1000GenomeData0.0048 synonymousTHis [H]3122
contig referenceCHis [H]3122
68908255469 rs1004055119 N.D. missenseAAsn [N]1123
missenseCHis [H]1123
contig referenceGAsp [D]1123
68908261475 rs1015531394 N.D. missenseGGlu [E]1125
contig referenceCGln [Q]1125
68908263477 rs1024451110 N.D. missenseTHis [H]3125
contig referenceGGln [Q]3125
68908269483 rs775782198 0.000byFreq missenseGArg [R]3127
contig referenceCSer [S]3127
68908273487 rs749823636 0.000byFreq missenseAAsn [N]1129
contig referenceGAsp [D]1129
68908276490 rs972425138 N.D. nonsenseT1130
contig referenceCArg [R]1130
68908277491 rs150123428 0.000byClusterbyFreq missenseAGln [Q]2130
missenseCPro [P]2130
contig referenceGArg [R]2130
68908281495 rs761440964 0.000byFreq missenseTAsp [D]3131
contig referenceGGlu [E]3131
68908286500 rs1360370376 N.D. missenseTPhe [F]2133
contig referenceCSer [S]2133
68908287501 rs1272309665 N.D. synonymousGSer [S]3133
contig referenceCSer [S]3133
68908289503 rs1025353657 N.D. missenseGCys [C]2134
contig referenceATyr [Y]2134
68908291505 rs1431875863 N.D. missenseGGly [G]1135
contig referenceAArg [R]1135
68908295509 rs199841148 0.000byClusterWith1000GenomeData0.0002 missenseAGln [Q]2136
contig referenceTLeu [L]2136
68908295509 rs767630646 0.000byCluster frame shift-Lys [K]2137
contig referenceTGLeu [L]2137
68908296510 rs772920126 0.000 synonymousALeu [L]3136
contig referenceGLeu [L]3136
68908297511 rs1198046728 N.D. missenseGVal [V]1137
contig referenceTLeu [L]1137
68908307521 rs760342235 0.000byFreq missenseGGly [G]2140
contig referenceCAla [A]2140
68908310524 rs766311472 0.000byFreq missenseGSer [S]2141
contig referenceAAsn [N]2141
68908314528 rs753728312 0.000 missenseAGlu [E]3142
contig referenceTAsp [D]3142
68908321535 rs775840312 0.000 frame shiftA1145
contig reference-Tyr [Y]1145
68908322536 rs754802697 0.000 missenseGCys [C]2145
missenseTPhe [F]2145
contig referenceATyr [Y]2145
68908327541 rs1324667543 N.D. nonsenseT1147
contig referenceCArg [R]1147
68908328542 rs138448914 0.000byClusterbyFreq missenseAGln [Q]2147
contig referenceGArg [R]2147
68908332546 rs752573345 0.000 synonymousALeu [L]3148
contig referenceGLeu [L]3148
68908333547 rs757362541 0.000 nonsenseT1149
contig referenceALys [K]1149
68908335549 rs577941690 0.001byFreqWith1000GenomeData0.0004 synonymousGLys [K]3149
contig referenceALys [K]3149
68908535553 rs536962342 0.000With1000GenomeData0.0004 missenseAThr [T]1151
contig referenceGAla [A]1151
68908536554 rs764874107 0.000 missenseGGly [G]2151
contig referenceCAla [A]2151
68908537555 rs752694569 0.000byFreq synonymousGAla [A]3151
synonymousTAla [A]3151
contig referenceCAla [A]3151
68908538556 rs201701183 0.000byCluster synonymousTLeu [L]1152
contig referenceCLeu [L]1152
68908543561 rs1486831174 N.D. missenseGMet [M]3153
contig referenceTIle [I]3153
68908552570 rs1202833418 N.D. frame shiftAAGT3158
contig reference-Tyr [Y]3158
68908553571 rs1260502480 N.D. nonsenseT1157
contig referenceALys [K]1157
68908557575 rs761100806 0.000byFreq -2159
68908558576 rs1485870717 N.D. synonymousCTyr [Y]3158
contig referenceTTyr [Y]3158
68908560578 rs1185059973 N.D. missenseGArg [R]2159
contig referenceAHis [H]2159
68908563581 rs767665196 0.000byFreq missenseATyr [Y]2160
missenseGCys [C]2160
contig referenceCSer [S]2160
68908566584 rs750539690 0.000 missenseTVal [V]2161
contig referenceGGly [G]2161
68908567585 rs1449259658 N.D. synonymousTGly [G]3161
contig referenceCGly [G]3161
68908569587 rs756164122 0.000 missenseTLeu [L]2162
contig referenceCPro [P]2162
68908576594 rs1381446523 N.D. synonymousTSer [S]3164
contig referenceCSer [S]3164
68908582600 rs780311461 0.000 synonymousGLeu [L]3166
contig referenceCLeu [L]3166
68908583601 rs1375613370 N.D. missenseGVal [V]1167
contig referenceAIle [I]1167
68908584602 rs754051200 0.000byFreq missenseCThr [T]2167
contig referenceTIle [I]2167
68908589607 rs1384348569 N.D. missenseAMet [M]1169
contig referenceGVal [V]1169
68908592610 rs1396762854 N.D. missenseTPhe [F]1170
contig referenceCLeu [L]1170
68908600618 rs1338970087 N.D. synonymousGGly [G]3172
synonymousTGly [G]3172
contig referenceCGly [G]3172
68908603621 rs1380253408 N.D. synonymousGArg [R]3173
contig referenceAArg [R]3173
68908609627 rs35287563 N.D. frame shiftCGln [Q]3177
contig reference-Ser [S]3177
68908612630 rs755370507 0.000byFreq synonymousTPro [P]3176
contig referenceCPro [P]3176
68908615633 rs779086573 0.000byFreq missenseGArg [R]3177
synonymousCSer [S]3177
contig referenceTSer [S]3177
68908619637 rs1318644863 N.D. missenseTSer [S]1179
contig referenceGAla [A]1179
68908622640 rs1236878780 N.D. missenseGGly [G]1180
contig referenceASer [S]1180
68908623641 rs748709340 0.000 missenseAAsn [N]2180
contig referenceGSer [S]2180
68908628646 rs1345132621 N.D. missenseGVal [V]1182
contig referenceAIle [I]1182
68908631649 rs548256623 0.000byFreqWith1000GenomeData0.0002 missenseTTyr [Y]1183
contig referenceCHis [H]1183
68911441651 rs1250393290 N.D. missenseAGln [Q]3183
missenseGGln [Q]3183
contig referenceCHis [H]3183
68911443653 rs754681347 0.000byFreq missenseTLeu [L]2184
contig referenceCPro [P]2184
68911444654 rs755103682 0.000 synonymousAPro [P]3184
contig referenceGPro [P]3184
68911445655 rs1408189892 N.D. synonymousTLeu [L]1185
contig referenceCLeu [L]1185
68911447657 rs1176973229 N.D. synonymousALeu [L]3185
contig referenceGLeu [L]3185
68911449659 rs779167784 0.000 missenseTIle [I]2186
contig referenceCThr [T]2186
68911452662 rs5792458 N.D. frame shift-Ser [S]2187
contig referenceTPhe [F]2187
68911456666 rs753055603 0.000byFreq missenseALeu [L]3188
contig referenceCPhe [F]3188
68911458668 rs758780456 0.000 missenseGSer [S]2189
contig referenceAAsn [N]2189
68911461671 rs1356014568 N.D. missenseAAsn [N]2190
contig referenceCThr [T]2190
68911464674 rs1242233592 N.D. missenseATyr [Y]2191
contig referenceGCys [C]2191
68911466676 rs1460306757 N.D. synonymousTLeu [L]1192
contig referenceCLeu [L]1192
68911471681 rs1297435692 N.D. synonymousTAsp [D]3193
contig referenceCAsp [D]3193
68911473683 rs375694606 0.000byClusterbyFreq missenseGSer [S]2194
missenseTIle [I]2194
contig referenceCThr [T]2194
68911474684 rs141587272 0.000 synonymousAThr [T]3194
contig referenceCThr [T]3194
68911476686 rs1409369410 N.D. missenseTPhe [F]2195
contig referenceCSer [S]2195
68911477687 rs1442536361 N.D. synonymousTSer [S]3195
contig referenceCSer [S]3195
68911478688 rs564145037 0.000With1000GenomeData0.0002 nonsenseT1196
contig referenceCGln [Q]1196
68911480690 rs1280728139 N.D. missenseTHis [H]3196
contig referenceGGln [Q]3196
68911482692 rs1344330989 N.D. missenseGArg [R]2197
contig referenceALys [K]2197
68911483693 rs1026668269 N.D. synonymousGLys [K]3197
contig referenceALys [K]3197
68911488698 rs780802298 0.000 missenseTVal [V]2199
contig referenceCAla [A]2199
68911489699 rs780961121 0.000 synonymousAAla [A]3199
contig referenceGAla [A]3199
68911490700 rs369509318 0.000byCluster missenseAIle [I]1200
contig referenceGVal [V]1200
68911494704 rs560096 0.352byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.3195 missenseCSer [S]2201
contig referenceTLeu [L]2201
68911495705 rs775185334 0.000 missenseTPhe [F]3201
contig referenceALeu [L]3201
68911498708 rs762714340 0.000 missenseALeu [L]3202
contig referenceTPhe [F]3202
68911499709 rs768493454 0.000byFreq missenseAThr [T]1203
missenseCPro [P]1203
contig referenceGAla [A]1203
68911500710 rs373012350 0.000byClusterbyFreq missenseTVal [V]2203
contig referenceCAla [A]2203
68911501711 rs761677597 0.000byFreq synonymousAAla [A]3203
synonymousTAla [A]3203
contig referenceGAla [A]3203
68911502712 rs766465987 0.000 missenseGVal [V]1204
contig referenceCLeu [L]1204
68911503713 rs1421881294 N.D. missenseCPro [P]2204
contig referenceTLeu [L]2204
68911504714 rs200932905 0.000byClusterWith1000GenomeData0.0002 synonymousALeu [L]3204
contig referenceGLeu [L]3204
68911505715 rs1390686396 N.D. missenseCPro [P]1205
contig referenceTSer [S]1205
68911514724 rs374952782 0.000byClusterbyFreq missenseALys [K]1208
contig referenceGGlu [E]1208
68911515725 rs369139106 0.000byCluster missenseGGly [G]2208
contig referenceAGlu [E]2208
68911517727 rs1035391916 N.D. missenseGVal [V]1209
contig referenceCLeu [L]1209
68911522732 rs765439482 0.000 synonymousGAla [A]3210
synonymousTAla [A]3210
contig referenceCAla [A]3210
68911523733 rs752962297 0.000byFreq missenseCLeu [L]1211
missenseGVal [V]1211
contig referenceAIle [I]1211
68911531741 rs764495455 0.000byFreq synonymousCHis [H]3213
contig referenceTHis [H]3213
68911535745 rs1364362474 N.D. missenseGAla [A]1215
missenseTSer [S]1215
contig referenceCPro [P]1215
68911536746 rs752135303 0.000 missenseGArg [R]2215
contig referenceCPro [P]2215
68911542752 rs757799498 0.000byFreq missenseAAsp [D]2217
contig referenceGGly [G]2217
68911546756 rs781756249 0.000 synonymousCThr [T]3218
contig referenceTThr [T]3218
68911550760 rs779716706 0.000byClusterbyFreq frame shift-Pro [P]1221
contig referenceAThr [T]1221
68911557767 rs745416724 0.000byFreq missenseTMet [M]2222
contig referenceCThr [T]2222
68911558768 rs755634860 0.000 synonymousAThr [T]3222
contig referenceGThr [T]3222
68911571781 rs779639460 0.000 missenseGVal [V]1227
contig referenceAIle [I]1227
68911572782 rs960086318 N.D. missenseAAsn [N]2227
contig referenceTIle [I]2227
68911573783 rs1032480901 N.D. synonymousAIle [I]3227
contig referenceCIle [I]3227
68911574784 rs1290261281 N.D. missenseGVal [V]1228
contig referenceAIle [I]1228
68911579789 rs1160020799 N.D. synonymousCLeu [L]3229
contig referenceTLeu [L]3229
68911588798 rs748899869 0.000byFreq synonymousTVal [V]3232
contig referenceGVal [V]3232
68911592802 rs768449561 0.000 nonsenseT1234
contig referenceCGln [Q]1234
68914823814 rs1365403264 N.D. missenseAIle [I]1238
contig referenceGVal [V]1238
68914825816 rs755582766 0.000 synonymousCVal [V]3238
contig referenceTVal [V]3238
68914828819 rs779554916 0.000byFreq synonymousALeu [L]3239
contig referenceGLeu [L]3239
68914831822 rs142485663 0.000byClusterWith1000GenomeData0.0002 synonymousTCys [C]3240
contig referenceCCys [C]3240
68914833824 rs1470434109 N.D. frame shift-Trp [W]2243
contig reference(37bp)Pro [P]2243
68914834825 rs754581177 0.000 synonymousTCys [C]3241
contig referenceCCys [C]3241
68914835826 rs746259825 0.000byClusterbyFreq missenseAThr [T]1242
missenseTSer [S]1242
contig referenceGAla [A]1242
68914836827 rs771853653 0.000 missenseTVal [V]2242
contig referenceCAla [A]2242
68914837828 rs76690064 0.006byClusterbyFreqWith1000GenomeData0.0052 synonymousAAla [A]3242
synonymousGAla [A]3242
contig referenceCAla [A]3242
68914838829 rs746910953 0.000byFreq missenseTSer [S]1243
contig referenceCPro [P]1243
68914840831 rs373892962 0.000byCluster synonymousTPro [P]3243
contig referenceCPro [P]3243
68914841832 rs775600808 0.000 missenseGAla [A]1244
contig referenceTSer [S]1244
68914847838 rs377678376 0.000byClusterbyFreq missenseGVal [V]1246
contig referenceAIle [I]1246
68914848839 rs1174705568 N.D. missenseCThr [T]2246
contig referenceTIle [I]2246
68914849840 rs764462472 0.000byFreq synonymousTIle [I]3246
contig referenceCIle [I]3246
68914850841 rs774700020 0.000byFreq missenseAThr [T]1247
contig referenceGAla [A]1247
68914852843 rs76707931 0.013byClusterbyFreqWith1000GenomeData0.0048 synonymousTAla [A]3247
contig referenceCAla [A]3247
68914853844 rs201112136 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAMet [M]1248
contig referenceGVal [V]1248
68914856847 rs576861137 0.000With1000GenomeData0.0002 missenseCHis [H]1249
contig referenceGAsp [D]1249
68914860851 rs977434370 N.D. missenseGSer [S]2250
contig referenceAAsn [N]2250
68914865856 rs1284064613 N.D. missenseAMet [M]1252
contig referenceGVal [V]1252
68914867858 rs146386692 0.000byCluster synonymousAVal [V]3252
contig referenceGVal [V]3252
68914870861 rs1202016348 N.D. synonymousAGlu [E]3253
contig referenceGGlu [E]3253
68914871862 rs1033094612 N.D. missenseTCys [C]1254
contig referenceCArg [R]1254
68914872863 rs761191746 0.000byFreq missenseAHis [H]2254
missenseTLeu [L]2254
contig referenceGArg [R]2254
68914874865 rs1378800448 N.D. synonymousTLeu [L]1255
contig referenceCLeu [L]1255
68914878869 rs148095551 0.002byClusterbyFreqWith1000GenomeData0.0010 missenseGGly [G]2256
contig referenceCAla [A]2256
68914881872 rs754474113 0.000byFreq missenseCPro [P]2257
contig referenceTLeu [L]2257
68914885876 rs778607442 0.000 synonymousCCys [C]3258
contig referenceTCys [C]3258
68914890881 rs1199495852 N.D. missenseTLeu [L]2260
contig referenceAGln [Q]2260
68914892883 rs141836800 0.000byClusterbyFreq missenseTTrp [W]1261
contig referenceCArg [R]1261
68914893884 rs939818020 N.D. missenseAGln [Q]2261
contig referenceGArg [R]2261
68914896887 rs1479217574 N.D. missenseGSer [S]2262
contig referenceTIle [I]2262
68914901892 rs139497493 0.000byClusterbyFreqWith1000GenomeData0.0008 missenseTCys [C]1264
contig referenceCArg [R]1264
68914902893 rs777575504 0.000byFreq missenseAHis [H]2264
missenseTLeu [L]2264
contig referenceGArg [R]2264
68914904895 rs770943023 0.000 synonymousTLeu [L]1265
contig referenceCLeu [L]1265
68914918909 rs1234881854 N.D. synonymousAAla [A]3269
contig referenceCAla [A]3269
68914919910 rs201054207 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTCys [C]1270
contig referenceCArg [R]1270
68914920911 rs756408576 0.000byFreq missenseAHis [H]2270
missenseCPro [P]2270
contig referenceGArg [R]2270
68914923914 rs774718460 0.000 missenseCPro [P]2271
contig referenceTLeu [L]2271
68914924915 rs199619824 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousALeu [L]3271
synonymousTLeu [L]3271
contig referenceCLeu [L]3271
68914926917 rs773582904 0.000byFreq missenseCPro [P]2272
contig referenceTLeu [L]2272
68914934925 rs10896380 0.298byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.1198 missenseGVal [V]1275
contig referenceAIle [I]1275
68914941932 rs112495985 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseGArg [R]2277
missenseTLeu [L]2277
contig referenceAGln [Q]2277
68914943934 rs144681826 0.000byClusterbyFreqWith1000GenomeData missenseGAsp [D]1278
contig referenceCHis [H]1278
68914947938 rs1340372547 N.D. missenseTPhe [F]2279
contig referenceCSer [S]2279
68914956947 rs764672352 0.000byFreq missenseTVal [V]2282
contig referenceCAla [A]2282
68914957948 rs752373799 0.000byFreq synonymousAAla [A]3282
contig referenceGAla [A]3282
68914960951 rs1046845478 N.D. synonymousCVal [V]3283
contig referenceTVal [V]3283
68914961952 rs1380122297 N.D. missenseAIle [I]1284
contig referenceTLeu [L]1284
68914963954 rs1223143521 N.D. synonymousGLeu [L]3284
contig referenceALeu [L]3284
68914965956 rs201188656 0.000byClusterbyFreq missenseTVal [V]2285
contig referenceCAla [A]2285
68914966957 rs147409148 0.000byClusterbyFreq synonymousAAla [A]3285
contig referenceGAla [A]3285
68914967958 rs751421003 0.000byClusterbyFreq missenseTTrp [W]1286
contig referenceCArg [R]1286
68914968959 rs200566598 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAGln [Q]2286
contig referenceGArg [R]2286
68914971962 rs899517052 N.D. missenseAAsn [N]2287
contig referenceGSer [S]2287
68914972963 rs564645287 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseGArg [R]3287
synonymousTSer [S]3287
contig referenceCSer [S]3287
68914973964 rs768803582 0.000byCluster missenseAAsn [N]1288
contig referenceGAsp [D]1288
68914979970 rs370988994 0.000byClusterbyFreq missenseAThr [T]1290
contig referenceGAla [A]1290
68914981972 rs1304304290 N.D. synonymousGAla [A]3290
contig referenceCAla [A]3290
68914984975 rs748408625 0.000 missenseCHis [H]3291
contig referenceGGln [Q]3291
68914985976 rs772375614 0.000 missenseCLeu [L]1292
contig referenceAIle [I]1292
68914986977 rs773281935 0.000 missenseCThr [T]2292
contig referenceTIle [I]2292
68914988979 rs761171176 0.000 missenseAIle [I]1293
missenseTPhe [F]1293
contig referenceGVal [V]1293
68914990981 rs1240899173 N.D. synonymousCVal [V]3293
contig referenceTVal [V]3293
68914991982 rs771136608 0.000 missenseAThr [T]1294
contig referenceGAla [A]1294
68914992983 rs531698017 0.000With1000GenomeData0.0002 missenseGGly [G]2294
contig referenceCAla [A]2294
68914993984 rs1317226870 N.D. synonymousGAla [A]3294
contig referenceAAla [A]3294
68914995986 rs759987473 0.000 missenseCAla [A]2295
missenseGGly [G]2295
contig referenceAAsp [D]2295
68914996987 rs1246567945 N.D. synonymousCAsp [D]3295
contig referenceTAsp [D]3295
68914998989 rs375554721 0.000byCluster missenseAAsn [N]2296
contig referenceTIle [I]2296
68914999990 rs190620140 0.000byClusterWith1000GenomeData0.0002 synonymousTIle [I]3296
contig referenceCIle [I]3296
68915002993 rs181492004 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAArg [R]3297
contig referenceGArg [R]3297
68915004995 rs763867470 0.000 missenseGArg [R]2298
contig referenceALys [K]2298
68915005996 rs536156719 0.000byFreqWith1000GenomeData0.0004 missenseCAsn [N]3298
contig referenceGLys [K]3298
68915006997 rs757076339 0.000 missenseAAsn [N]1299
contig referenceGAsp [D]1299
689150091000 rs767156490 0.000byFreq missenseGVal [V]1300
contig referenceAIle [I]1300
689150111002 rs750403781 0.000byFreq missenseGMet [M]3300
synonymousTIle [I]3300
contig referenceCIle [I]3300
689150121003 rs139635469 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]1301
contig referenceGAsp [D]1301
689150151006 rs557416644 N.D.byCluster nonsenseT1302
contig referenceCGln [Q]1302
689150161007 rs748286001 0.000 missenseGArg [R]2302
contig referenceAGln [Q]2302
689150171008 rs1360435468 N.D. missenseCHis [H]3302
contig referenceGGln [Q]3302
689150231014 rs903011503 N.D. synonymousCPhe [F]3304
contig referenceTPhe [F]3304
689177411020 rs1261847940 N.D. frame shift-Lys [K]3307
contig referenceAAACAsn [N]3307
689177421021 rs758520241 0.000 missenseCHis [H]1307
contig referenceAAsn [N]1307
689177431022 rs1470463698 N.D. missenseGSer [S]2307
contig referenceAAsn [N]2307
689177451024 rs201177129 0.002byCluster missenseCGln [Q]1308
contig referenceALys [K]1308
689177481027 rs200079527 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGlu [E]1309
contig referenceALys [K]1309
689177511030 rs747287368 0.000 missenseTSer [S]1310
contig referenceAThr [T]1310
689177521031 rs555235493 N.D.byCluster missenseTIle [I]2310
contig referenceCThr [T]2310
689177531032 rs757465847 0.000byFreq synonymousAThr [T]3310
synonymousTThr [T]3310
contig referenceCThr [T]3310
689177551034 rs1247102426 N.D. frame shift-Arg [R]2311
contig referenceAGln [Q]2311
689177581037 rs746292289 0.000 missenseCAla [A]2312
contig referenceAAsp [D]2312
689177601039 rs533031017 0.000With1000GenomeData0.0002 missenseGGlu [E]1313
contig referenceALys [K]1313
689177631042 rs775978627 0.000 missenseGGly [G]1314
contig referenceAArg [R]1314
689177681047 rs1364742278 N.D. synonymousAGlu [E]3315
contig referenceGGlu [E]3315
689177701049 rs1323805346 N.D. missenseGArg [R]2316
contig referenceALys [K]2316
689177741053 rs144565481 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousCSer [S]3317
contig referenceTSer [S]3317
689177751054 rs768231851 0.000byClusterbyFreq missenseGAsp [D]1318
contig referenceAAsn [N]1318
689177771056 rs1482496537 N.D. synonymousCAsn [N]3318
contig referenceTAsn [N]3318
689177811060 rs773690764 0.000 nonsenseT1320
contig referenceCArg [R]1320
689177821061 rs761355302 0.000 missenseAGln [Q]2320
contig referenceGArg [R]2320
689177861065 rs771900045 0.000 synonymousCAsn [N]3321
contig referenceTAsn [N]3321
689177911070 rs765856813 0.000 frame shift-Lys [K]2325
contig reference(8bp)Leu [L]2325
689177931072 rs1163991878 N.D. missenseGGlu [E]1324
contig referenceALys [K]1324
689177951074 rs772984556 0.000 synonymousALys [K]3324
contig referenceGLys [K]3324
689177961075 rs760611895 0.000byFreq missenseAMet [M]1325
missenseGVal [V]1325
contig referenceCLeu [L]1325
689177981077 rs753837962 0.000 synonymousALeu [L]3325
contig referenceGLeu [L]3325
689178011080 rs746581714 0.000byCluster frame shift-Thr [T]3328
contig referenceAAGAALys [K]3328
689178081087 rs1009805424 N.D. missenseCGln [Q]1329
contig referenceGGlu [E]1329
689178091088 rs201726883 0.000byCluster missenseTVal [V]2329
contig referenceAGlu [E]2329
689178101089 rs1428644615 N.D. synonymousGGlu [E]3329
contig referenceAGlu [E]3329
689178121091 rs1018963941 N.D. missenseCPro [P]2330
contig referenceTLeu [L]2330
689178211100 rs759353094 0.000 missenseCThr [T]2333
contig referenceGArg [R]2333
689178241103 rs1398528951 N.D. missenseGGly [G]2334
contig referenceAGlu [E]2334
689178291108 rs145076368 0.000byCluster missenseAThr [T]1336
contig referenceGAla [A]1336
689178321111 rs1191184476 N.D. missenseTSer [S]1337
contig referenceGAla [A]1337
689178371116 rs1295848892 N.D. missenseAIle [I]3338
contig referenceGMet [M]3338
689178381117 rs149045005 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTPhe [F]1339
contig referenceCLeu [L]1339
689178401119 rs757319859 0.000byFreq synonymousGLeu [L]3339
synonymousTLeu [L]3339
contig referenceCLeu [L]3339
689178411120 rs750580259 0.000byFreq missenseALys [K]1340
contig referenceGGlu [E]1340
689178451124 rs1022216138 N.D. missenseAAsn [N]2341
contig referenceGSer [S]2341
689178461125 rs547681612 0.000byCluster missenseAArg [R]3341
contig referenceCSer [S]3341
689178471126 rs531122798 0.000byFreqWith1000GenomeData0.0004 missenseGVal [V]1342
missenseTPhe [F]1342
contig referenceCLeu [L]1342
689178531132 rs1252323021 N.D. missenseGAla [A]1344
contig referenceTSer [S]1344
689178541133 rs34468908 N.D. frame shiftGGly [G]2345
contig reference-Ala [A]2345
689178541133 rs368481743 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTLeu [L]2344
contig referenceCSer [S]2344
689178551134 rs779452908 0.000byFreq synonymousASer [S]3344
contig referenceGSer [S]3344
689178571136 rs1251109896 N.D. missenseGGly [G]2345
contig referenceCAla [A]2345
689178581137 rs747668390 0.000 synonymousGAla [A]3345
contig referenceAAla [A]3345
689178591138 rs567322475 0.000byFreqWith1000GenomeData0.0002 missenseGAsp [D]1346
contig referenceAAsn [N]1346
689178611140 rs773013486 0.000byFreq synonymousTAsn [N]3346
contig referenceCAsn [N]3346
689178621141 rs1432881007 N.D. missenseAMet [M]1347
missenseCLeu [L]1347
contig referenceGVal [V]1347
689178641143 rs1170875613 N.D. synonymousCVal [V]3347
contig referenceGVal [V]3347
689178661145 rs1374590820 N.D. missenseCAla [A]2348
missenseGGly [G]2348
contig referenceTVal [V]2348
689178701149 rs760356276 0.000 synonymousCLeu [L]3349
contig referenceTLeu [L]3349
689178711150 rs371984479 0.000byCluster missenseCPro [P]1350
contig referenceGAla [A]1350
689178721151 rs1167911577 N.D. missenseTVal [V]2350
contig referenceCAla [A]2350
689178731152 rs1347323819 N.D. synonymousGAla [A]3350
contig referenceAAla [A]3350
689178741153 rs1033402228 N.D. missenseGAla [A]1351
contig referenceAThr [T]1351
689178761155 rs1428895624 N.D. synonymousGThr [T]3351
contig referenceAThr [T]3351
689178811160 rs1368446033 N.D. missenseGArg [R]2353
contig referenceCThr [T]2353
689178821161 rs1406218110 N.D. frame shift(7bp)Glu [E]3355
contig reference-Ala [A]3355
689291831163 rs773317620 0.000byFreq missenseCAla [A]2354
contig referenceGGly [G]2354
689291841164 rs1161757831 N.D. synonymousGGly [G]3354
contig referenceTGly [G]3354
689291851165 rs1372564934 N.D. missenseAThr [T]1355
contig referenceGAla [A]1355
689291861166 rs142062146 0.002byClusterbyFreqWith1000GenomeData0.0014 missenseTVal [V]2355
contig referenceCAla [A]2355
689291871167 rs529978266 0.000byFreqWith1000GenomeData0.0002 synonymousAAla [A]3355
contig referenceGAla [A]3355
689291881168 rs754086222 0.000 missenseCPro [P]1356
contig referenceTSer [S]1356
689291921172 rs973501892 N.D. missenseTVal [V]2357
contig referenceCAla [A]2357
689291931173 rs755300047 0.000byFreq synonymousTAla [A]3357
contig referenceCAla [A]3357
689291941174 rs1412392275 N.D. missenseAAsn [N]1358
contig referenceGAsp [D]1358
689291961176 rs1419120176 N.D. synonymousCAsp [D]3358
contig referenceTAsp [D]3358
689291991179 rs1247103419 N.D. synonymousTGly [G]3359
contig referenceCGly [G]3359
689292041184 rs201060167 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCPro [P]2361
contig referenceTLeu [L]2361
689292061186 rs1385977297 N.D. missenseCGln [Q]1362
contig referenceALys [K]1362
689292081188 rs376473360 N.D.byCluster synonymousALys [K]3362
contig referenceGLys [K]3362
689292101190 rs1398038802 N.D. missenseCSer [S]2363
contig referenceTLeu [L]2363
689292161196 rs866000560 N.D. missenseTLeu [L]2365
contig referenceCPro [P]2365
689292171197 rs753290152 0.000byFreq synonymousTPro [P]3365
contig referenceCPro [P]3365
689292181198 rs759014082 0.000byFreq missenseALys [K]1366
contig referenceGGlu [E]1366
689292221202 rs778402972 0.000byFreq missenseTIle [I]2367
contig referenceGSer [S]2367
689292251205 rs1282979690 N.D. missenseCSer [S]2368
contig referenceATyr [Y]2368
689292261206 rs148157556 0.013byClusterbyFreqWith1000GenomeData0.0048 synonymousTTyr [Y]3368
contig referenceCTyr [Y]3368
689292281208 rs756791529 0.000 missenseATyr [Y]2369
contig referenceTPhe [F]2369
689292301210 rs200007067 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]1370
contig referenceGAsp [D]1370
689292321212 rs749110357 N.D. synonymousTAsp [D]3370
contig referenceCAsp [D]3370
689292331213 rs770912338 0.000byFreq missenseAMet [M]1371
contig referenceGVal [V]1371
689292361216 rs1462509747 N.D. missenseAMet [M]1372
contig referenceGVal [V]1372
689292421222 rs374845226 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseCLeu [L]1374
missenseGVal [V]1374
contig referenceAIle [I]1374
689292431223 rs1193634362 N.D. missenseCThr [T]2374
contig referenceTIle [I]2374
689292441224 rs570558952 0.000byFreqWith1000GenomeData0.0002 missenseGMet [M]3374
synonymousCIle [I]3374
contig referenceTIle [I]3374
689292471227 rs140296831 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTAsp [D]3375
contig referenceCAsp [D]3375
689292481228 rs1178427226 N.D. missenseALys [K]1376
contig referenceGGlu [E]1376
689292501230 rs1250441511 N.D. synonymousAGlu [E]3376
contig referenceGGlu [E]3376
689292511231 rs1409138201 N.D. missenseCArg [R]1377
contig referenceTCys [C]1377
689292521232 rs760811074 0.000 missenseATyr [Y]2377
contig referenceGCys [C]2377
689292591239 rs35995205 0.027byCluster synonymousAGln [Q]3379
contig referenceGGln [Q]3379
689292621242 rs1176740254 N.D. synonymousTAla [A]3380
contig referenceCAla [A]3380
689292651245 rs145314949 0.000byClusterbyFreq synonymousTLeu [L]3381
contig referenceCLeu [L]3381
689292661246 rs776730737 0.000 nonsenseT1382
missenseALys [K]1382
missenseCGln [Q]1382
contig referenceGGlu [E]1382
689292691249 rs759765154 0.000byFreq missenseAThr [T]1383
contig referenceGAla [A]1383
689292711251 rs201485072 0.001byClusterbyFreqWith1000GenomeData0.0002 synonymousAAla [A]3383
contig referenceGAla [A]3383
689292761256 rs372477029 0.000byCluster missenseCSer [S]2385
contig referenceGCys [C]2385
689292771257 rs1342294991 N.D. synonymousTCys [C]3385
contig referenceCCys [C]3385
689292781258 rs759641927 0.000byFreq missenseCArg [R]1386
contig referenceTTrp [W]1386
689292861266 rs1346976621 N.D. synonymousTPro [P]3388
contig referenceCPro [P]3388
689292891269 rs369809006 0.000byCluster synonymousCLeu [L]3389
contig referenceGLeu [L]3389
689292991279 rs752049602 0.000 missenseGGly [G]1393
contig referenceAArg [R]1393
689293051285 rs1347461335 N.D. missenseCArg [R]1395
contig referenceTCys [C]1395
689293061286 rs1325161979 N.D. missenseATyr [Y]2395
contig referenceGCys [C]2395
689293071287 rs756733490 0.000 synonymousTCys [C]3395
contig referenceCCys [C]3395
689293091289 rs1405568739 N.D. missenseCThr [T]2396
contig referenceTIle [I]2396
689293161296 rs745534850 0.000byFreq synonymousAAla [A]3398
contig referenceGAla [A]3398
689293191299 rs377631839 0.000byClusterbyFreq synonymousAGly [G]3399
synonymousTGly [G]3399
contig referenceCGly [G]3399
689293201300 rs779654686 0.000 missenseAAsn [N]1400
contig referenceGAsp [D]1400
689293231303 rs749136189 0.000byFreq missenseTTyr [Y]1401
contig referenceCHis [H]1401
689293321312 rs1199570593 N.D. missenseAMet [M]1404
contig referenceCLeu [L]1404
689293341314 rs780125691 0.001byClusterbyFreq synonymousTLeu [L]3404
contig referenceGLeu [L]3404
689293351315 rs1004816448 N.D. missenseTSer [S]1405
contig referenceCPro [P]1405
689293361316 rs778826310 0.000byFreq missenseGArg [R]2405
contig referenceCPro [P]2405
689293401320 rs1476873060 N.D. synonymousAPro [P]3406
synonymousGPro [P]3406
contig referenceCPro [P]3406
689293431323 rs1169779251 N.D. frame shift-Ser [S]3408
contig referenceCAThr [T]3408
689293441324 rs1014879924 N.D. missenseGAla [A]1408
contig referenceAThr [T]1408
689293451325 rs780692442 0.000byFreq frame shift-Gln [Q]2409
contig reference(8bp)Val [V]2409
689293461326 rs748059372 0.000 synonymousTThr [T]3408
contig referenceAThr [T]3408
689293551335 rs199753365 0.000byClusterWith1000GenomeData0.0002 missenseGGln [Q]3411
contig referenceCHis [H]3411
689293561336 rs1171082481 N.D. missenseGGlu [E]1412
contig referenceALys [K]1412
689333001339 rs1177963598 N.D. frame shift(14bp)Arg [R]1419
contig reference-Ser [S]1419
689333021341 rs756287157 0.000 synonymousCAla [A]3413
contig referenceTAla [A]3413
689333041343 rs1465465295 N.D. missenseTVal [V]2414
contig referenceCAla [A]2414
689333051344 rs1168463338 N.D. synonymousAAla [A]3414
contig referenceGAla [A]3414
689333061345 rs1372362859 N.D. missenseAMet [M]1415
contig referenceCLeu [L]1415
689333081347 rs548509132 0.000With1000GenomeData0.0002 synonymousALeu [L]3415
contig referenceGLeu [L]3415
689333171356 rs1306883563 N.D. synonymousALeu [L]3418
contig referenceGLeu [L]3418
689333231362 rs1345673085 N.D. synonymousTLeu [L]3420
contig referenceCLeu [L]3420
689333251364 rs1269264954 N.D. missenseAAsn [N]2421
missenseCThr [T]2421
contig referenceGSer [S]2421
689333261365 rs749343954 0.000byFreq missenseAArg [R]3421
synonymousTSer [S]3421
contig referenceCSer [S]3421
689333341373 rs997738793 N.D. missenseGGly [G]2424
contig referenceAGlu [E]2424
689333361375 rs1303837541 N.D. missenseTCys [C]1425
contig referenceCArg [R]1425
689333371376 rs769046350 0.000byFreq missenseAHis [H]2425
contig referenceGArg [R]2425
689333381377 rs774418677 0.000byFreq synonymousTArg [R]3425
contig referenceCArg [R]3425
689333451384 rs755865677 0.000 -1429
689333491388 rs1344954631 N.D. missenseGGly [G]2429
contig referenceAGlu [E]2429
689333501389 rs1203031897 N.D. synonymousAGlu [E]3429
contig referenceGGlu [E]3429
689333521391 rs1200183933 N.D. missenseGCys [C]2430
contig referenceATyr [Y]2430
689333531392 rs140654955 0.001byClusterbyFreq synonymousTTyr [Y]3430
contig referenceCTyr [Y]3430
689333541393 rs772257226 0.000byFreq missenseASer [S]1431
contig referenceGGly [G]1431
689333561395 rs377460631 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTGly [G]3431
contig referenceCGly [G]3431
689333571396 rs116012780 0.003byClusterbyFreqWith1000GenomeData0.0036 missenseAThr [T]1432
missenseTSer [S]1432
contig referenceGAla [A]1432
689333581397 rs370414354 0.000byClusterbyFreq missenseTVal [V]2432
contig referenceCAla [A]2432
689333591398 rs759035035 0.000byFreq synonymousAAla [A]3432
contig referenceGAla [A]3432
689333611400 rs979491951 N.D. missenseALys [K]2433
contig referenceGArg [R]2433
689333641403 rs1464006744 N.D. missenseGGly [G]2434
contig referenceTVal [V]2434
689333651404 rs1427744324 N.D. synonymousAVal [V]3434
contig referenceGVal [V]3434
689333661405 rs1167405720 N.D. missenseTLeu [L]1435
contig referenceGVal [V]1435
689333681407 rs777570288 0.000 frame shift-Gly [G]3436
contig reference(46bp)Arg [R]3436
689333691408 rs138327042 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTTrp [W]1436
contig referenceCArg [R]1436
689333701409 rs752225738 0.000byFreq missenseAGln [Q]2436
contig referenceGArg [R]2436
689333791418 rs373649545 0.000byClusterbyFreq missenseTMet [M]2439
contig referenceCThr [T]2439
689333801419 rs763751517 0.000 synonymousAThr [T]3439
contig referenceGThr [T]3439
689333841423 rs1386510529 N.D. nonsenseT1441
contig referenceCGln [Q]1441
689333851424 rs1298805149 N.D. missenseGArg [R]2441
contig referenceAGln [Q]2441
689333901429 rs751549678 0.000byFreq missenseTCys [C]1443
contig referenceCArg [R]1443
689333911430 rs757304363 0.000byFreq missenseAHis [H]2443
contig referenceGArg [R]2443
689333951434 rs1429551581 N.D. missenseAIle [I]3444
contig referenceGMet [M]3444
689333971436 rs571142182 0.000byFreqWith1000GenomeData0.0004 missenseCPro [P]2445
missenseGArg [R]2445
contig referenceAHis [H]2445
689333991438 rs372181708 0.000byCluster nonsenseT1446
missenseGGlu [E]1446
contig referenceCGln [Q]1446
689334001439 rs779196520 0.000 missenseCPro [P]2446
contig referenceAGln [Q]2446
689334011440 rs149628807 0.000byClusterbyFreq missenseTHis [H]3446
contig referenceGGln [Q]3446
689334031442 rs144240271 0.000byClusterbyFreq missenseGGly [G]2447
contig referenceCAla [A]2447
689334051444 rs139000973 0.000byClusterbyFreq missenseGVal [V]1448
contig referenceAIle [I]1448
689334071446 rs1209510520 N.D. synonymousTIle [I]3448
contig referenceCIle [I]3448
689334081447 rs1249728010 N.D. missenseGVal [V]1449
contig referenceAMet [M]1449
689334091448 rs1447565336 N.D. missenseCThr [T]2449
contig referenceTMet [M]2449
689334111450 rs374363750 0.000byClusterbyFreq missenseTCys [C]1450
contig referenceCArg [R]1450
689334121451 rs771485988 0.000 missenseAHis [H]2450
missenseTLeu [L]2450
contig referenceGArg [R]2450
689334151454 rs777119001 0.000byFreq nonsenseA2451
contig referenceGTrp [W]2451
689334151454 rs1285416231 N.D. frame shift-Pro [P]2452
contig referenceGAla [A]2452
689334161455 rs759053268 0.000 missenseCCys [C]3451
contig referenceGTrp [W]3451
689334241463 rs764598361 0.000 missenseGGly [G]2454
contig referenceAAsp [D]2454
689334251464 rs143134727 0.000byCluster synonymousTAsp [D]3454
contig referenceCAsp [D]3454
689334261465 rs775232759 0.000byFreq missenseCPro [P]1455
contig referenceAThr [T]1455
689334271466 rs762477906 0.000 missenseGSer [S]2455
contig referenceCThr [T]2455
689334301469 rs763774505 0.000 missenseGArg [R]2456
contig referenceTMet [M]2456
689334331472 rs1252297510 N.D. missenseGCys [C]2457
contig referenceATyr [Y]2457
689334351474 rs370332386 N.D. missenseTPhe [F]1458
contig referenceCLeu [L]1458
689334361475 rs751446350 0.000byFreq missenseGArg [R]2458
contig referenceTLeu [L]2458
689334371476 rs1380556705 N.D. synonymousCLeu [L]3458
contig referenceTLeu [L]3458
689334401479 rs757100442 0.000 synonymousAGly [G]3459
contig referenceGGly [G]3459
689334441483 rs897044 N.D.byCluster missenseAIle [I]1461
missenseAIle [I]1461
missenseGVal [V]1461
missenseGVal [V]1461
contig referenceCLeu [L]1461
contig referenceCLeu [L]1461
689334461485 rs1310664438 N.D. synonymousTLeu [L]3461
contig referenceCLeu [L]3461
689334491488 rs1321342951 N.D. synonymousGThr [T]3462
contig referenceAThr [T]3462
689334531492 rs1229301355 N.D. missenseTTyr [Y]1464
contig referenceCHis [H]1464
689334561495 rs1303182459 N.D. missenseCPro [P]1465
contig referenceTSer [S]1465
689334571496 rs1269757725 N.D. missenseATyr [Y]2465
contig referenceCSer [S]2465
689334611500 rs147477786 0.000byClusterbyFreq synonymousGSer [S]3466
synonymousTSer [S]3466
contig referenceCSer [S]3466
689334621501 rs755120725 0.000byFreq missenseAMet [M]1467
missenseCLeu [L]1467
contig referenceGVal [V]1467
689334701509 rs1302845532 N.D. synonymousAArg [R]3469
contig referenceGArg [R]3469
689334711510 rs1237930222 N.D. missenseTTyr [Y]1470
contig referenceCHis [H]1470
689334731512 rs1484199036 N.D. synonymousTHis [H]3470
contig referenceCHis [H]3470
689334741513 rs1179605149 N.D. missenseTPhe [F]1471
contig referenceCLeu [L]1471
689334761515 rs1036050370 N.D. synonymousGLeu [L]3471
contig referenceCLeu [L]3471
689334771516 rs778808308 0.000 synonymousTLeu [L]1472
contig referenceCLeu [L]1472
689337951521 rs750407517 0.000byFreq synonymousAArg [R]3473
contig referenceGArg [R]3473
689337971523 rs548354495 0.000With1000GenomeData0.0002 missenseGGly [G]2474
contig referenceAAsp [D]2474
689337981524 rs61731907 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseAGlu [E]3474