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SNP linked to Gene (geneID:51621) 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_015995.3plus strandNP_057079.2forwardNT_010194.18GRCh38.p7<- currently shown
NM_001302461.1plus strandNP_001289390.1forwardNT_010194.18GRCh38.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_010194.18NM_015995.3NP_057079.2forwardplus strand289, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
3132689339 rs1219419936 N.D. -
31327169315 rs1279431399 N.D. -
31327216362 rs1401553069 N.D. missenseAThr [T]12
contig referenceGAla [A]12
31327221367 rs772130220 0.001 synonymousTAla [A]33
contig referenceCAla [A]33
31327222368 rs1292330963 N.D. missenseAThr [T]14
contig referenceGAla [A]14
31327223369 rs1394263721 N.D. missenseTVal [V]24
contig referenceCAla [A]24
31327225371 rs1390677741 N.D. missenseTSer [S]15
contig referenceGAla [A]15
31327226372 rs1167247856 N.D. missenseTVal [V]25
contig referenceCAla [A]25
31327227373 rs1473041566 N.D. synonymousGAla [A]35
contig referenceCAla [A]35
31327239385 rs77996726 0.015byFreq synonymousTHis [H]39
contig referenceCHis [H]39
31327248394 rs1181472902 N.D. synonymousTAla [A]312
contig referenceCAla [A]312
31327249395 rs1303511002 N.D. missenseCGln [Q]113
contig referenceGGlu [E]113
31327251397 rs1338519693 N.D. synonymousAGlu [E]313
contig referenceGGlu [E]313
31327254400 rs1444272613 N.D. synonymousTCys [C]314
contig referenceCCys [C]314
31327257403 rs1238952891 N.D. synonymousALeu [L]315
contig referenceCLeu [L]315
31327258404 rs1218317508 N.D. missenseAMet [M]116
missenseTLeu [L]116
contig referenceGVal [V]116
31327263409 rs760905478 0.004byFreq synonymousASer [S]317
contig referenceCSer [S]317
31327269415 rs923421633 N.D. synonymousASer [S]319
contig referenceGSer [S]319
31327272418 rs1319782960 N.D. synonymousTSer [S]320
contig referenceCSer [S]320
31327273419 rs1210922068 N.D. missenseTCys [C]121
contig referenceCArg [R]121
31327278424 rs954926276 N.D. synonymousAAla [A]322
contig referenceGAla [A]322
31327287433 rs769102504 0.001 synonymousTHis [H]325
contig referenceCHis [H]325
31327288434 rs1264587253 N.D. missenseAArg [R]126
contig referenceGGly [G]126
31327288434 rs1290067854 N.D. -128
31327291437 rs1488774704 N.D. missenseTSer [S]127
contig referenceCPro [P]127
31327295441 rs1245645106 N.D. -Gln [Q]228
31327299445 rs1211496230 N.D. synonymousAGlu [E]329
contig referenceGGlu [E]329
31327300446 rs1206710178 N.D. missenseAArg [R]130
contig referenceGGly [G]130
31327301447 rs1260495008 N.D. missenseAGlu [E]230
contig referenceGGly [G]230
31327305451 rs1309455660 N.D. synonymousCPro [P]331
contig referenceGPro [P]331
31327310456 rs983603110 N.D. missenseGCys [C]233
missenseTPhe [F]233
contig referenceCSer [S]233
31327314460 rs1366072778 N.D. synonymousCArg [R]334
contig referenceGArg [R]334
31327316462 rs1333470825 N.D. missenseAHis [H]235
contig referenceCPro [P]235
31327318464 rs1328157610 N.D. missenseALys [K]136
contig referenceGGlu [E]136
31327319465 rs1406701999 N.D. missenseGGly [G]236
contig referenceAGlu [E]236
31327322468 rs1487667877 N.D. missenseAAsp [D]237
contig referenceGGly [G]237
31327324470 rs1193993802 N.D. missenseAThr [T]138
contig referenceGAla [A]138
31327325471 rs907936819 N.D. missenseTVal [V]238
contig referenceCAla [A]238
31327326472 rs1425285923 N.D. synonymousAAla [A]338
contig referenceGAla [A]338
31327328474 rs777251052 0.002 missenseTVal [V]239
contig referenceCAla [A]239
31327329475 rs1163143659 N.D. synonymousTAla [A]339
contig referenceCAla [A]339
31327334480 rs1368194995 N.D. missenseTVal [V]241
contig referenceCAla [A]241
31327337483 rs762464220 0.000 missenseTVal [V]242
contig referenceCAla [A]242
31327338484 rs1037663066 N.D. synonymousTAla [A]342
contig referenceCAla [A]342
31327339485 rs997747683 N.D. missenseCPro [P]143
contig referenceAThr [T]143
31327340486 rs927349524 N.D. missenseAAsn [N]243
missenseTIle [I]243
contig referenceCThr [T]243
31327340486 rs1305478458 N.D. frame shift-Arg [R]245
contig referenceCThr [T]245
31327345491 rs1057070402 N.D. missenseCPro [P]145
missenseGAla [A]145
contig referenceAThr [T]145
31327349495 rs1199606519 N.D. missenseCPro [P]246
contig referenceTLeu [L]246
31327350496 rs1490992013 N.D. synonymousALeu [L]346
contig referenceGLeu [L]346
31327354500 rs1399446890 N.D. missenseGGly [G]148
contig referenceCArg [R]148
31327356502 rs765982303 0.002 synonymousAArg [R]348
contig referenceCArg [R]348
31327357503 rs1267300671 N.D. missenseAIle [I]149
contig referenceGVal [V]149
31327365511 rs1342635763 N.D. missenseCAsp [D]351
contig referenceGGlu [E]351
31327367513 rs1222233195 N.D. missenseAHis [H]252
contig referenceGArg [R]252
31327368514 rs751046053 0.001 synonymousGArg [R]352
synonymousTArg [R]352
contig referenceCArg [R]352
31327374520 rs1354846287 N.D. missenseGGlu [E]354
contig referenceCAsp [D]354
31327375521 rs1308659881 N.D. missenseCArg [R]155
contig referenceGGly [G]155
31327376522 rs1311747721 N.D. missenseAAsp [D]255
contig referenceGGly [G]255
31327380526 rs1284601340 N.D. synonymousALys [K]356
contig referenceGLys [K]356
31327381527 rs1322098313 N.D. missenseAAsn [N]157
contig referenceGAsp [D]157
31327389535 rs559841055 0.002byFreqWith1000GenomeData0.0010 synonymousTAla [A]359
contig referenceCAla [A]359
31327391537 rs1283768815 N.D. nonsenseA260
contig referenceCSer [S]260
31327395541 rs1352385748 N.D. synonymousGLeu [L]361
synonymousTLeu [L]361
contig referenceCLeu [L]361
31327398544 rs1216741062 N.D. missenseALeu [L]362
contig referenceCPhe [F]362
31327399545 rs1348040613 N.D. missenseAMet [M]163
contig referenceGVal [V]163
31327401547 rs1041578317 N.D. synonymousAVal [V]363
contig referenceGVal [V]363
31327401547 rs1264642536 N.D. frame shift-Trp [W]364
contig referenceGVal [V]364
31327404550 rs11537749 0.491byClusterbyFreqWith1000GenomeData0.1797 synonymousAVal [V]364
synonymousAVal [V]364
contig referenceGVal [V]364
contig referenceGVal [V]364
31327414560 rs1255976358 N.D. synonymousTLeu [L]168
contig referenceCLeu [L]168
31327418564 rs999988233 N.D. missenseTVal [V]269
contig referenceCAla [A]269
31327419565 rs1166064232 N.D. synonymousAAla [A]369
contig referenceGAla [A]369
31327425571 rs1379036310 N.D. synonymousALeu [L]371
contig referenceCLeu [L]371
31327426572 rs1419578821 N.D. missenseGAsp [D]172
contig referenceAAsn [N]172
31327429575 rs1159342142 N.D. missenseALys [K]173
contig referenceCGln [Q]173
31327435581 rs1251813721 N.D. missenseAThr [T]175
contig referenceGAla [A]175
31327436582 rs1481146401 N.D. missenseAGlu [E]275
contig referenceCAla [A]275
31327441587 rs1179367127 N.D. missenseAThr [T]177
missenseCPro [P]177
contig referenceGAla [A]177
31327446592 rs1346971141 N.D. synonymousGPro [P]378
synonymousTPro [P]378
contig referenceCPro [P]378
31327447593 rs1411834143 N.D. missenseCPro [P]179
contig referenceGAla [A]179
31327449595 rs1399192571 N.D. synonymousTAla [A]379
contig referenceCAla [A]379
31327450596 rs1407475484 N.D. missenseAThr [T]180
missenseTSer [S]180
contig referenceCPro [P]180
31327451597 rs1018351613 N.D. missenseGArg [R]280
missenseTLeu [L]280
contig referenceCPro [P]280
31327453599 rs1302469295 N.D. missenseCPro [P]181
contig referenceGAla [A]181
31327461607 rs1387178167 N.D. synonymousGArg [R]383
contig referenceCArg [R]383
31327467613 rs1427970916 N.D. synonymousAGlu [E]385
contig referenceGGlu [E]385
31327471617 rs1379681697 N.D. missenseAThr [T]187
contig referenceGAla [A]187
31327472618 rs1488844573 N.D. missenseTVal [V]287
contig referenceCAla [A]287
31327473619 rs1244218578 N.D. synonymousAAla [A]387
contig referenceCAla [A]387
31327476622 rs1397525699 N.D. synonymousAAla [A]388
contig referenceGAla [A]388
31327477623 rs963777186 N.D. missenseAThr [T]189
contig referenceGAla [A]189
31327480626 rs1353904366 N.D. missenseGGly [G]190
contig referenceCArg [R]190
31327482628 rs1306755663 N.D. synonymousCArg [R]390
contig referenceGArg [R]390
31327485631 rs1283050890 N.D. synonymousALys [K]391
contig referenceGLys [K]391
31327486632 rs1223660038 N.D. missenseAThr [T]192
contig referenceGAla [A]192
31327488634 rs1325070928 N.D. synonymousTAla [A]392
contig referenceGAla [A]392
31327493639 rs996814698 N.D. missenseTIle [I]294
contig referenceCThr [T]294
31327493639 rs1352921178 N.D. frame shift-Ala [A]296
contig referenceCCys [C]296
31327494640 rs1222805138 N.D. synonymousTThr [T]394
contig referenceCThr [T]394
31327495641 rs1030560832 N.D. missenseGAla [A]195
contig referenceCPro [P]195
31327501647 rs955143288 N.D. missenseTCys [C]197
contig referenceCArg [R]197
31327504650 rs1428299750 N.D. synonymousTLeu [L]198
contig referenceCLeu [L]198
31327506652 rs540741003 0.003byClusterbyFreqWith1000GenomeData0.0014 -3101
31327506652 rs1337619979 N.D. synonymousALeu [L]398
contig referenceGLeu [L]398
31327512658 rs1471034200 N.D. synonymousAPro [P]3100
contig referenceGPro [P]3100
31327513659 rs908089588 N.D. missenseTSer [S]1101
contig referenceCPro [P]1101
31327513659 rs1299692015 N.D. (15bp) [APEPT]1106
31327516662 rs1176397447 N.D. missenseAThr [T]1102
contig referenceGAla [A]1102
31327517663 rs963422436 N.D. missenseTVal [V]2102
contig referenceCAla [A]2102
31327524670 rs973487036 N.D. synonymousAGlu [E]3104
contig referenceGGlu [E]3104
31327526672 rs1185158666 N.D. missenseTLeu [L]2105
contig referenceCPro [P]2105
31327529675 rs1475284880 N.D. missenseTIle [I]2106
contig referenceCThr [T]2106
31327531677 rs1241229922 N.D. missenseCPro [P]1107
contig referenceTSer [S]1107
31327532678 rs1203878396 N.D. missenseTPhe [F]2107
contig referenceCSer [S]2107
31327536682 rs927267263 N.D. synonymousGPro [P]3108
synonymousTPro [P]3108
contig referenceCPro [P]3108
31327537683 rs1202438054 N.D. missenseASer [S]1109
contig referenceGGly [G]1109
31327538684 rs937332764 N.D. missenseCAla [A]2109
contig referenceGGly [G]2109
31327542688 rs1057444584 N.D. synonymousAAla [A]3110
synonymousTAla [A]3110
contig referenceCAla [A]3110
31327543689 rs1361004653 N.D. missenseCGln [Q]1111
contig referenceGGlu [E]1111
31327546692 rs1316043214 N.D. missenseCArg [R]1112
contig referenceGGly [G]1112
31327547693 rs917136732 N.D. missenseTVal [V]2112
contig referenceGGly [G]2112
31327548694 rs945947348 N.D. synonymousTGly [G]3112
contig referenceCGly [G]3112
31327553699 rs1404132138 N.D. missenseTVal [V]2114
contig referenceCAla [A]2114
31327554700 rs1336168632 N.D. synonymousAAla [A]3114
contig referenceGAla [A]3114
31327556702 rs1462511555 N.D. missenseGGly [G]2115
contig referenceCAla [A]2115
31327560706 rs1356851756 N.D. synonymousAAla [A]3116
contig referenceGAla [A]3116
31327562708 rs1168950952 N.D. missenseTLeu [L]2117
contig referenceCPro [P]2117
31327565711 rs1041573150 N.D. missenseGArg [R]2118
contig referenceCPro [P]2118
31327566712 rs867164587 N.D.byCluster synonymousGPro [P]3118
synonymousTPro [P]3118
contig referenceCPro [P]3118
31327569715 rs1225599097 N.D. synonymousTSer [S]3119
contig referenceCSer [S]3119
31327571717 rs767027693 0.000 missenseTLeu [L]2120
contig referenceCPro [P]2120
31327572718 rs1308621423 N.D. synonymousTPro [P]3120
contig referenceGPro [P]3120
31327573719 rs1182454765 N.D. missenseCPro [P]1121
contig referenceGAla [A]1121
31327575721 rs548866527 0.001byFreqWith1000GenomeData0.0004 synonymousTAla [A]3121
contig referenceGAla [A]3121
31327576722 rs1253073009 N.D. missenseAArg [R]1122
contig referenceTTrp [W]1122
31327580726 rs1202315138 N.D. missenseAAsn [N]2123
contig referenceGSer [S]2123
31327581727 rs1306753562 N.D. missenseGArg [R]3123
contig referenceCSer [S]3123
31327583729 rs1292255769 N.D. missenseGGly [G]2124
contig referenceAGlu [E]2124
31327584730 rs568489216 0.001byFreqWith1000GenomeData0.0004 missenseCAsp [D]3124
contig referenceGGlu [E]3124
31327586732 rs1380873436 N.D. missenseTLeu [L]2125
contig referenceCPro [P]2125
31327587733 rs1039481985 N.D. synonymousAPro [P]3125
contig referenceGPro [P]3125
31327587733 rs1256196105 N.D. -3129
31327589735 rs113926078 N.D.byCluster missenseCAla [A]2126
contig referenceAGlu [E]2126
31327600746 rs899600255 N.D. missenseAArg [R]1130
contig referenceGGly [G]1130
31327602748 rs1223327311 N.D. synonymousTGly [G]3130
contig referenceGGly [G]3130
31327603749 rs1461944192 N.D. synonymousTLeu [L]1131
contig referenceCLeu [L]1131
31327604750 rs1483016447 N.D. (18bp) [EPEREP]2137
31327605751 rs1484006899 N.D. synonymousALeu [L]3131
contig referenceGLeu [L]3131
31327611757 rs1185837442 N.D. synonymousGPro [P]3133
synonymousTPro [P]3133
contig referenceCPro [P]3133
31327612758 rs1236668826 N.D. missenseCGln [Q]1134
contig referenceGGlu [E]1134
31327616762 rs1163627771 N.D. missenseAGln [Q]2135
contig referenceGArg [R]2135
31327618764 rs997834388 N.D. missenseCGln [Q]1136
contig referenceGGlu [E]1136
31327620766 rs1029750488 N.D. missenseTAsp [D]3136
synonymousAGlu [E]3136
contig referenceGGlu [E]3136
31327622768 rs755843503 0.002 missenseTLeu [L]2137
contig referenceCPro [P]2137
31327623769 rs375101197 0.002byClusterWith1000GenomeData0.0008 synonymousTPro [P]3137
contig referenceGPro [P]3137
31327624770 rs1412809460 N.D. missenseAArg [R]1138
missenseCArg [R]1138
contig referenceGGly [G]1138
31327625771 rs1175670418 N.D. missenseAGlu [E]2138
contig referenceGGly [G]2138
31327628774 rs1447539273 N.D. missenseTLeu [L]2139
contig referenceCPro [P]2139
31327629775 rs753772017 0.000byFreq synonymousGPro [P]3139
synonymousTPro [P]3139
contig referenceCPro [P]3139
31327631777 rs1471048950 N.D. missenseGGly [G]2140
contig referenceCAla [A]2140
31327632778 rs1329056568 N.D. synonymousCAla [A]3140
contig referenceGAla [A]3140
31327633779 rs1375785744 N.D. missenseAArg [R]1141
contig referenceGGly [G]1141
31327638784 rs757124063 0.000 synonymousTSer [S]3142
contig referenceCSer [S]3142
31327647793 rs1357004857 N.D. synonymousTPro [P]3145
contig referenceCPro [P]3145
31327650796 rs778840451 0.000 synonymousGGly [G]3146
synonymousTGly [G]3146
contig referenceCGly [G]3146
31327655801 rs745902119 0.000 missenseCThr [T]2148
contig referenceGArg [R]2148
31327659805 rs1168099306 N.D. synonymousGGln [Q]3149
contig referenceAGln [Q]3149
31327664810 rs772228704 0.000byFreq missenseGGly [G]2151
contig referenceTVal [V]2151
31327665811 rs780104994 0.000 synonymousAVal [V]3151
synonymousGVal [V]3151
synonymousTVal [V]3151
contig referenceCVal [V]3151
31327666812 rs1015033557 N.D. missenseTTrp [W]1152
synonymousAArg [R]1152
contig referenceCArg [R]1152
31327667813 rs1305473138 N.D. missenseAGln [Q]2152
contig referenceGArg [R]2152
31327669815 rs1313605961 N.D. missenseTTrp [W]1153
contig referenceCArg [R]1153
31327672818 rs747301995 0.000 missenseASer [S]1154
missenseCArg [R]1154
contig referenceGGly [G]1154
31327673819 rs1365306862 N.D. missenseAAsp [D]2154
contig referenceGGly [G]2154
31327674820 rs1256635080 N.D. synonymousTGly [G]3154
contig referenceCGly [G]3154
31327679825 rs768886163 0.000 missenseAAsn [N]2156
contig referenceGSer [S]2156
31327681827 rs1454014080 N.D. missenseGGly [G]1157
contig referenceCArg [R]1157
31327682828 rs1365140883 N.D. missenseTLeu [L]2157
contig referenceGArg [R]2157
31327683829 rs1172191225 N.D. synonymousTArg [R]3157
contig referenceCArg [R]3157
31327684830 rs777199716 0.000 missenseAThr [T]1158
missenseCPro [P]1158
contig referenceGAla [A]1158
31327686832 rs762272110 0.000byFreq synonymousGAla [A]3158
contig referenceCAla [A]3158
31327687833 rs770367190 0.000 missenseAAsn [N]1159
contig referenceGAsp [D]1159
31327688834 rs1190703376 N.D. missenseGGly [G]2159
contig referenceAAsp [D]2159
31327690836 rs773876294 0.000byFreq missenseTPhe [F]1160
contig referenceCLeu [L]1160
31327692838 rs758928142 0.000 synonymousTLeu [L]3160
contig referenceCLeu [L]3160
31327693839 rs551105493 0.000With1000GenomeData0.0004 missenseALys [K]1161
contig referenceGGlu [E]1161
31327695841 rs959048364 N.D. missenseCAsp [D]3161
synonymousAGlu [E]3161
contig referenceGGlu [E]3161
31327699845 rs774994043 0.000 missenseGAla [A]1163
missenseTSer [S]1163
contig referenceCPro [P]1163
31327700846 rs1330596416 N.D. missenseTLeu [L]2163
contig referenceCPro [P]2163
31327701847 rs760443581 0.000 synonymousAPro [P]3163
contig referenceGPro [P]3163
31327702848 rs1435604960 N.D. nonsenseT1164
contig referenceCGln [Q]1164
31327707853 rs763661609 0.000byFreq synonymousAArg [R]3165
contig referenceGArg [R]3165
31327710856 rs1346844699 N.D. synonymousALys [K]3166
contig referenceGLys [K]3166
31327713859 rs753576698 0.000 synonymousTHis [H]3167
contig referenceCHis [H]3167
31327715861 rs757068968 0.000byFreq missenseGArg [R]2168
contig referenceALys [K]2168
31327719865 rs368768973 0.000byClusterbyFreq synonymousTCys [C]3169
contig referenceCCys [C]3169
31327721867 rs750396985 0.000 missenseTLeu [L]2170
contig referenceAHis [H]2170
31327722868 rs1486972582 N.D. synonymousTHis [H]3170
contig referenceCHis [H]3170
31327725871 rs372336832 0.000byClusterbyFreq synonymousTTyr [Y]3171
contig referenceCTyr [Y]3171
31327726872 rs75182225 0.000byClusterbyFreq missenseAThr [T]1172
contig referenceGAla [A]1172
31327727873 rs866224041 N.D.byCluster missenseAGlu [E]2172
contig referenceCAla [A]2172
31327728874 rs1451727214 N.D. synonymousAAla [A]3172
synonymousCAla [A]3172
contig referenceGAla [A]3172
31327729875 rs747188954 0.000 missenseASer [S]1173
contig referenceGGly [G]1173
31327731877 rs201002318 0.001byClusterbyFreqWith1000GenomeData0.0030 synonymousTGly [G]3173
contig referenceCGly [G]3173
31327743889 rs781577330 0.000 synonymousAVal [V]3177
contig referenceTVal [V]3177
31327746892 rs202115203 0.002byClusterbyFreqWith1000GenomeData0.0014 synonymousTTyr [Y]3178
contig referenceCTyr [Y]3178
31327748894 rs1423226163 N.D. missenseAGlu [E]2179
contig referenceGGly [G]2179
31327753899 rs1319426095 N.D. missenseAThr [T]1181
contig referenceTSer [S]1181
31327754900 rs1432199017 N.D. missenseTPhe [F]2181
contig referenceCSer [S]2181
31327755901 rs1296268763 N.D. synonymousGSer [S]3181
contig referenceTSer [S]3181
31327757903 rs770312146 0.000 missenseTLeu [L]2182
contig referenceCSer [S]2182
31327758904 rs1169442492 N.D. synonymousASer [S]3182
contig referenceGSer [S]3182
31327759905 rs1411276589 N.D. missenseTTyr [Y]1183
contig referenceCHis [H]1183
31327761907 rs373148635 0.000byCluster synonymousTHis [H]3183
contig referenceCHis [H]3183
31327764910 rs553114301 0.000byFreqWith1000GenomeData0.0004 synonymousGLeu [L]3184
synonymousTLeu [L]3184
contig referenceCLeu [L]3184
31327766912 rs1366948994 N.D. missenseGArg [R]2185
contig referenceALys [K]2185
31327767913 rs374859326 0.000byCluster missenseCAsn [N]3185
contig referenceGLys [K]3185
31327768914 rs1456288196 N.D. missenseTSer [S]1186
contig referenceGAla [A]1186
31327770916 rs1406148215 N.D. synonymousTAla [A]3186
contig referenceGAla [A]3186
31327773919 rs1296996540 N.D. synonymousTHis [H]3187
contig referenceCHis [H]3187
31327774920 rs771478340 0.000byFreq synonymousTLeu [L]1188
contig referenceCLeu [L]1188
31327776922 rs1177909423 N.D. synonymousALeu [L]3188
synonymousCLeu [L]3188
contig referenceGLeu [L]3188
31327777923 rs1376936158 N.D. synonymousCArg [R]1189
contig referenceAArg [R]1189
31327781927 rs1432379745 N.D. missenseGSer [S]2190
contig referenceCThr [T]2190
31327783929 rs1272291531 N.D. missenseGAsp [D]1191
contig referenceCHis [H]1191
31327785931 rs935798411 N.D. synonymousTHis [H]3191
contig referenceCHis [H]3191
31435370936 rs923571056 N.D. missenseAAsp [D]2193
contig referenceGGly [G]2193
31435371937 rs1241344637 N.D. (9bp) [DKE]3202
31435372938 rs142007528 0.001byFreqWith1000GenomeData0.0004 missenseAAsn [N]1194
contig referenceGAsp [D]1194
31435373939 rs991934010 N.D. missenseTVal [V]2194
contig referenceAAsp [D]2194
31435390956 rs917661931 N.D. missenseAAsn [N]1200
contig referenceGAsp [D]1200
31435397963 rs947917265 N.D. missenseCAla [A]2202
contig referenceAGlu [E]2202
31435406972 rs751914768 N.D. missenseTLeu [L]2205
contig referenceCPro [P]2205
31435407973 rs371574637 N.D. synonymousAPro [P]3205
contig referenceGPro [P]3205
31435413979 rs909126402 N.D. synonymousAGly [G]3207
contig referenceCGly [G]3207
31435416982 rs1372952216 N.D. nonsenseA3208
contig referenceGTrp [W]3208
31435420986 rs559994803 0.000byClusterWith1000GenomeData0.0002 missenseCPro [P]1210
contig referenceGAla [A]1210
31435426992 rs866578340 N.D. missenseGGlu [E]1212
contig referenceCGln [Q]1212
31435430996 rs1323506989 N.D. missenseAAsp [D]2213
contig referenceGGly [G]2213
31435432998 rs1271252299 N.D. frame shift-Gln [Q]1214
contig referenceCAHis [H]1214
314354341000 rs1043817015 N.D. synonymousTHis [H]3214
contig referenceCHis [H]3214
314354361002 rs757762610 N.D. missenseCThr [T]2215
contig referenceGArg [R]2215
314354421008 rs74010636 0.069byClusterbyFreqWith1000GenomeData0.0355 missenseTMet [M]2217
missenseTMet [M]2217
contig referenceCThr [T]2217
contig referenceCThr [T]2217
314354431009 rs1038995281 N.D. synonymousAThr [T]3217
contig referenceGThr [T]3217
314354491015 rs1408573469 N.D. synonymousTPhe [F]3219
contig referenceCPhe [F]3219
314354501016 rs1338528960 N.D. missenseTCys [C]1220
contig referenceCArg [R]1220
314354511017 rs76241746 0.077byClusterbyFreqWith1000GenomeData0.0403 missenseAHis [H]2220
contig referenceGArg [R]2220
314354521018 rs1431037449 N.D. synonymousAArg [R]3220
synonymousTArg [R]3220
contig referenceCArg [R]3220
314354561022 rs183988197 0.002byFreqWith1000GenomeData0.0010 missenseAIle [I]1222
contig referenceCLeu [L]1222
314354571023 rs997478159 N.D. missenseAGln [Q]2222
contig referenceTLeu [L]2222
314354581024 rs1026234448 N.D. synonymousGLeu [L]3222
contig referenceALeu [L]3222
314354601026 rs1399434991 N.D. missenseTVal [V]2223
contig referenceGGly [G]2223
314354611027 rs531262210 0.000With1000GenomeData0.0002 synonymousAGly [G]3223
contig referenceGGly [G]3223
314354681034 rs891206651 N.D. missenseTPhe [F]1226
contig referenceCLeu [L]1226
314354771043 rs950554685 N.D. missenseCArg [R]1229
contig referenceGGly [G]1229
314354911057 rs1318913523 N.D. frame shift-Cys [C]3234
contig referenceAMet [M]3234
314354961062 rs146901318 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseTLeu [L]2235
contig referenceCSer [S]2235
314354971063 rs1006045899 N.D. synonymousCSer [S]3235
contig referenceGSer [S]3235
314355011067 rs570900086 0.000With1000GenomeData0.0002 missenseASer [S]1237
missenseTCys [C]1237
contig referenceCArg [R]1237
314355021068 rs1018409443 N.D. missenseAHis [H]2237
contig referenceGArg [R]2237
314355031069 rs1397960776 N.D. synonymousAArg [R]3237
contig referenceCArg [R]3237
314355061072 rs1297047750 N.D. synonymousCPro [P]3238
contig referenceTPro [P]3238
314355071073 rs1246792149 N.D. missenseTSer [S]1239
contig referenceCPro [P]1239
314355131079 rs1284938867 N.D. missenseAThr [T]1241
contig referenceTSer [S]1241
314355201086 rs148010105 N.D.byClusterWith1000GenomeData frame shiftGGln [Q]2245
contig reference-Lys [K]2245
314355201086 rs969811939 N.D. missenseAGlu [E]2243
missenseTVal [V]2243
contig referenceCAla [A]2243
314355211087 rs1452139460 N.D. synonymousAAla [A]3243
contig referenceGAla [A]3243
314355221088 rs1324613797 N.D. missenseCArg [R]1244
contig referenceGGly [G]1244
314355241090 rs956767509 N.D. synonymousGGly [G]3244
contig referenceCGly [G]3244
314355361102 rs1358388152 N.D. synonymousGVal [V]3248
contig referenceCVal [V]3248
314355381104 rs980180407 N.D. missenseTPhe [F]2249
contig referenceCSer [S]2249
314355421108 rs1254418953 N.D. synonymousTThr [T]3250
contig referenceCThr [T]3250
314355441110 rs1411654931 N.D. missenseGArg [R]2251
contig referenceCPro [P]2251
314355451111 rs968716930 N.D. synonymousTPro [P]3251
contig referenceCPro [P]3251
314355461112 rs1009664382 N.D. synonymousCArg [R]1252
contig referenceAArg [R]1252
314355471113 rs539451772 0.001byFreqWith1000GenomeData0.0006 missenseCThr [T]2252
contig referenceGArg [R]2252
314355521118 rs1167468856 N.D. missenseCPro [P]1254
contig referenceTSer [S]1254
314355531119 rs1205747270 N.D. missenseTPhe [F]2254
contig referenceCSer [S]2254
314355541120 rs1001098758 N.D. synonymousGSer [S]3254
synonymousTSer [S]3254
contig referenceCSer [S]3254
314355551121 rs1031237577 N.D. missenseAAsn [N]1255
contig referenceGAsp [D]1255
314355591125 rs553290075 0.000With1000GenomeData0.0002 missenseTLeu [L]2256
contig referenceCPro [P]2256
314355631129 rs1472225720 N.D. synonymousAVal [V]3257
contig referenceGVal [V]3257
314355661132 rs1445752634 N.D. synonymousALeu [L]3258
contig referenceGLeu [L]3258
314355671133 rs956391542 N.D. missenseGGlu [E]1259
contig referenceALys [K]1259
314355841150 rs1436639635 N.D. frame shiftTSer [S]3266
contig reference-Pro [P]3266
314356011167 rs945559329 N.D. missenseTMet [M]2270
contig referenceGArg [R]2270
314356041170 rs991817868 N.D. missenseAAsp [D]2271
contig referenceGGly [G]2271
314356181184 rs749347142 N.D. missenseGAla [A]1276
contig referenceAThr [T]1276
314356281194 rs969127477 N.D. missenseCSer [S]2279
contig referenceTPhe [F]2279