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dbSNP

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SNP linked to Gene (geneID:4669) 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): 5
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017024687.1plus strandXP_016880176.1forwardNT_010783.16GRCh38.p7<- currently shown
XM_017024686.1plus strandXP_016880175.1forwardNT_010783.16GRCh38.p7View snp on GeneModel
XM_011524840.1plus strandXP_011523142.1forwardNT_010783.16GRCh38.p7View snp on GeneModel
XM_006721920.2plus strandXP_006721983.1forwardNT_010783.16GRCh38.p7View snp on GeneModel
NM_000263.3plus strandNP_000254.2forwardNT_010783.16GRCh38.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_010783.16XM_017024687.1XP_016880176.1forwardplus strand821, 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
42536273341 rs1325661354 N.D. missenseTLeu [L]11
contig referenceAMet [M]11
42536274342 rs1013345784 N.D. missenseCThr [T]21
missenseGArg [R]21
contig referenceTMet [M]21
42536277345 rs904902945 N.D. missenseGGly [G]22
contig referenceAGlu [E]22
42536277345 rs1024697806 N.D. GGCGGT [VA]27
42536279347 rs968875282 N.D. missenseTSer [S]13
contig referenceGAla [A]13
42536281349 rs1366797084 N.D. synonymousAAla [A]33
contig referenceGAla [A]33
42536291359 rs1378927801 N.D. missenseTSer [S]17
contig referenceGAla [A]17
42536298366 rs1176961335 N.D. missenseGGly [G]29
contig referenceCAla [A]29
42536299367 rs1002286212 N.D. synonymousAAla [A]39
contig referenceGAla [A]39
42536300368 rs1248922504 N.D. missenseTLeu [L]110
contig referenceGVal [V]110
42536302370 rs1244442641 N.D. synonymousAVal [V]310
contig referenceGVal [V]310
42536303371 rs1223158492 N.D. missenseCArg [R]111
contig referenceGGly [G]111
42536304372 rs1217361905 N.D. missenseCAla [A]211
missenseTVal [V]211
contig referenceGGly [G]211
42536308376 rs1216969402 N.D. synonymousTVal [V]312
contig referenceCVal [V]312
42536309377 rs1032042327 N.D. missenseTPhe [F]113
contig referenceCLeu [L]113
42536313381 rs957939258 N.D. missenseCPro [P]214
contig referenceTLeu [L]214
42536316384 rs1280690494 N.D. missenseCPro [P]215
contig referenceTLeu [L]215
42536319387 rs575956298 0.027With1000GenomeData0.0002 missenseTVal [V]216
contig referenceCAla [A]216
42536320388 rs1312488945 N.D. synonymousTAla [A]316
contig referenceCAla [A]316
42536321389 rs1180903440 N.D. frame shift-Pro [P]118
contig referenceGAla [A]118
42536322390 rs543469840 0.000With1000GenomeData0.0002 missenseTVal [V]217
contig referenceGGly [G]217
42536326394 rs1276497226 N.D. synonymousAAla [A]318
contig referenceCAla [A]318
42536327395 rs1204195617 N.D. missenseAArg [R]119
contig referenceGGly [G]119
42536327395 rs1253870232 N.D. frame shift-Ala [A]120
contig referenceGGly [G]120
42536331399 rs1344891508 N.D. missenseCAla [A]220
missenseTVal [V]220
contig referenceGGly [G]220
42536332400 rs1421818277 N.D. synonymousTGly [G]320
contig referenceCGly [G]320
42536335403 rs564850299 0.000With1000GenomeData0.0002 synonymousAAla [A]321
contig referenceGAla [A]321
42536345413 rs1358822473 N.D. missenseALys [K]125
contig referenceGGlu [E]125
42536348416 rs1158872840 N.D. missenseTSer [S]126
contig referenceGAla [A]126
42536349417 rs988433554 N.D. missenseTVal [V]226
contig referenceCAla [A]226
42536352420 rs1430122594 N.D. frame shift-Arg [R]228
contig referenceGGlu [E]228
42536352420 rs1484196944 N.D. missenseAGln [Q]227
contig referenceGArg [R]227
42536353421 rs1021204618 N.D. synonymousCArg [R]327
contig referenceGArg [R]327
42536365433 rs1182949586 N.D. synonymousTAla [A]331
contig referenceCAla [A]331
42536368436 rs1189916831 N.D. synonymousAVal [V]332
contig referenceGVal [V]332
42536376444 rs1246249632 N.D. missenseCPro [P]235
contig referenceTLeu [L]235
42536377445 rs954871115 N.D. synonymousTLeu [L]335
contig referenceCLeu [L]335
42536384452 rs1460260015 N.D. missenseTTrp [W]138
contig referenceCArg [R]138
42536389457 rs1193731707 N.D. synonymousALeu [L]339
contig referenceGLeu [L]339
42536395463 rs1170826218 N.D. synonymousTGly [G]341
contig referenceGGly [G]341
42536397465 rs1422841941 N.D. missenseTLeu [L]242
contig referenceCPro [P]242
42536398466 rs1463936178 N.D. synonymousGPro [P]342
contig referenceAPro [P]342
42536404472 rs1489090930 N.D. synonymousGPro [P]344
contig referenceCPro [P]344
42536406474 rs1258540059 N.D. missenseTVal [V]245
contig referenceCAla [A]245
42536408476 rs1168699179 N.D. missenseAThr [T]146
contig referenceGAla [A]146
42536415483 rs867910252 N.D.byCluster missenseCSer [S]248
missenseGCys [C]248
contig referenceTPhe [F]248
42536417485 rs868372416 N.D.byCluster missenseGAla [A]149
contig referenceTSer [S]149
42536418486 rs987612260 N.D. missenseTPhe [F]249
contig referenceCSer [S]249
42536419487 rs1312501106 N.D. synonymousGSer [S]349
contig referenceCSer [S]349
42536422490 rs1280659857 N.D. synonymousCVal [V]350
contig referenceGVal [V]350
42536423491 rs867284491 N.D.byCluster missenseCPro [P]151
contig referenceTSer [S]151
42536424492 rs1449093723 N.D. missenseTLeu [L]251
contig referenceCSer [S]251
42536428496 rs1302451530 N.D. synonymousTVal [V]352
contig referenceGVal [V]352
42536431499 rs910639529 N.D. synonymousAGlu [E]353
contig referenceGGlu [E]353
42536435503 rs1384289050 N.D. missenseAThr [T]155
contig referenceGAla [A]155
42536436504 rs1296654282 N.D. missenseTVal [V]255
contig referenceCAla [A]255
42536442510 rs181735466 0.001byFreqWith1000GenomeData0.0004 missenseGGly [G]257
contig referenceCAla [A]257
42536444512 rs973885994 N.D. missenseAThr [T]158
contig referenceGAla [A]158
42536448516 rs1217324478 N.D. missenseGArg [R]259
missenseTMet [M]259
contig referenceALys [K]259
42536449517 rs1288446882 N.D. missenseTAsn [N]359
contig referenceGLys [K]359
42536452520 rs1449219265 N.D. synonymousAPro [P]360
contig referenceGPro [P]360
42536460528 rs1264514990 N.D. missenseGGly [G]263
contig referenceAAsp [D]263
42536469537 rs540899316 0.000With1000GenomeData0.0002 missenseAAsn [N]266
contig referenceGSer [S]266
42536470538 rs1208771812 N.D. synonymousTSer [S]366
contig referenceCSer [S]366
42536471539 rs920631661 N.D. synonymousTLeu [L]167
contig referenceCLeu [L]167
42536471539 rs1253908171 N.D. CTG [PV]167
42536472540 rs1486608317 N.D. missenseCPro [P]267
contig referenceTLeu [L]267
42536473541 rs1469781984 N.D. GCCAla [A]367
GGCGly [G]371
42536474542 rs1186888836 N.D. -171
42536475543 rs929286583 N.D. missenseAAsp [D]268
contig referenceGGly [G]268
42536478546 rs1046983403 N.D. missenseAAsp [D]269
contig referenceGGly [G]269
42536479547 rs1476832275 N.D. synonymousTGly [G]369
contig referenceCGly [G]369
42536480548 rs1329159364 N.D. missenseCArg [R]170
contig referenceGGly [G]170
42536482550 rs1201471385 N.D. synonymousTGly [G]370
contig referenceCGly [G]370
42536484552 rs1329966515 N.D. missenseCAla [A]271
contig referenceGGly [G]271
42536484552 rs1431589133 N.D. frame shift-Pro [P]274
contig reference(19bp)Arg [R]274
42536488556 rs1483372695 N.D. synonymousCAla [A]372
contig referenceGAla [A]372
42536489557 rs887004958 N.D. missenseAThr [T]173
contig referenceGAla [A]173
42536491559 rs1201516783 N.D. frame shift-Gly [G]375
contig reference(26bp)Val [V]375
42536495563 rs1460838744 N.D. missenseAMet [M]175
missenseCLeu [L]175
contig referenceGVal [V]175
42536498566 rs1175387909 N.D. missenseGGly [G]176
contig referenceCArg [R]176
42536500568 rs1220553522 N.D. synonymousAArg [R]376
contig referenceGArg [R]376
42536503571 rs949225882 N.D. synonymousCVal [V]377
contig referenceGVal [V]377
42536507575 rs1276484671 N.D. missenseASer [S]179
contig referenceGGly [G]179
42536519587 rs1357649350 N.D. missenseAMet [M]183
contig referenceGVal [V]183
42536521589 rs1294936427 N.D. synonymousAVal [V]383
contig referenceGVal [V]383
42536527595 rs1229160465 N.D. synonymousTAla [A]385
contig referenceCAla [A]385
42536530598 rs1381587394 N.D. synonymousTAla [A]386
contig referenceCAla [A]386
42536531599 rs1455536725 N.D. missenseTSer [S]187
contig referenceGAla [A]187
42536533601 rs1452325580 N.D. synonymousCAla [A]387
contig referenceGAla [A]387
42536534602 rs1227387097 N.D. missenseCArg [R]188
contig referenceGGly [G]188
42536535603 rs1299256917 N.D. missenseCAla [A]288
contig referenceGGly [G]288
42536536604 rs867621633 N.D.byCluster synonymousAGly [G]388
contig referenceGGly [G]388
42536540608 rs1046181264 N.D. missenseTTyr [Y]190
contig referenceCHis [H]190
42536542610 rs1360267129 N.D. synonymousTHis [H]390
contig referenceCHis [H]390
42536547615 rs905018795 N.D. missenseGCys [C]292
contig referenceATyr [Y]292
42536548616 rs753801626 0.000 synonymousTTyr [Y]392
contig referenceCTyr [Y]392
42536549617 rs1285791183 N.D. missenseGVal [V]193
contig referenceCLeu [L]193
42536554622 rs866267579 N.D.byCluster synonymousGArg [R]394
synonymousTArg [R]394
contig referenceCArg [R]394
42536555623 rs1169121244 N.D. missenseCHis [H]195
contig referenceGAsp [D]195
42536557625 rs1032487868 N.D. missenseAGlu [E]395
contig referenceCAsp [D]395
42536559627 rs1218148347 N.D. missenseCSer [S]296
contig referenceTPhe [F]296
42536560628 rs755082293 0.000byFreq missenseGLeu [L]396
synonymousTPhe [F]396
contig referenceCPhe [F]396
42536566634 rs1318421483 N.D. synonymousTGly [G]398
contig referenceCGly [G]398
42536573641 rs1216046617 N.D. missenseCLeu [L]1101
contig referenceGVal [V]1101
42536574642 rs1206076730 N.D. missenseGGly [G]2101
contig referenceTVal [V]2101
42536585653 rs1181544224 N.D. missenseASer [S]1105
missenseCArg [R]1105
contig referenceGGly [G]1105
42536593661 rs779437712 0.000 synonymousAGln [Q]3107
contig referenceGGln [Q]3107
42536594662 rs1487167711 N.D. synonymousTLeu [L]1108
contig referenceCLeu [L]1108
42536598666 rs1224387286 N.D. missenseAHis [H]2109
contig referenceGArg [R]2109
42536601669 rs1238714696 N.D. frame shift-Arg [R]2110
contig referenceTLeu [L]2110
42536602670 rs1269546717 N.D. synonymousTLeu [L]3110
contig referenceGLeu [L]3110
42536607675 rs977582959 N.D. missenseTLeu [L]2112
contig referenceGArg [R]2112
42536608676 rs1479609603 N.D. synonymousTArg [R]3112
contig referenceGArg [R]3112
42536609677 rs1190754188 N.D. missenseTSer [S]1113
contig referenceCPro [P]1113
42536610678 rs1009208330 N.D. missenseTLeu [L]2113
contig referenceCPro [P]2113
42536614682 rs748632325 0.001byFreq synonymousALeu [L]3114
contig referenceGLeu [L]3114
42536615683 rs758785463 0.000 missenseTSer [S]1115
contig referenceCPro [P]1115
42536616684 rs1379877908 N.D. missenseTLeu [L]2115
contig referenceCPro [P]2115
42536619687 rs1323765705 N.D. missenseAAsp [D]2116
contig referenceCAla [A]2116
42536620688 rs559674042 0.000byFreqWith1000GenomeData0.0004 synonymousGAla [A]3116
synonymousTAla [A]3116
contig referenceCAla [A]3116
42536621689 rs1009074785 N.D. missenseTLeu [L]1117
contig referenceGVal [V]1117
42536622690 rs746682180 0.000 missenseCAla [A]2117
contig referenceTVal [V]2117
42536623691 rs1436378685 N.D. synonymousTVal [V]3117
contig referenceGVal [V]3117
42536624692 rs770435689 0.000 missenseTSer [S]1118
contig referenceCPro [P]1118
42536625693 rs530062090 0.003byFreqWith1000GenomeData0.0016 missenseTLeu [L]2118
contig referenceCPro [P]2118
42536626694 rs745433070 0.000byCluster synonymousAPro [P]3118
contig referenceGPro [P]3118
42536627695 rs1240470839 N.D. missenseAArg [R]1119
missenseCArg [R]1119
contig referenceGGly [G]1119
42536630698 rs1445294968 N.D. nonsenseT1120
contig referenceGGlu [E]1120
42536634702 rs1449437603 N.D. missenseCPro [P]2121
contig referenceTLeu [L]2121
42536638706 rs769313280 0.000 synonymousAThr [T]3122
synonymousGThr [T]3122
contig referenceCThr [T]3122
42536644712 rs1350987479 N.D. synonymousGAla [A]3124
synonymousTAla [A]3124
contig referenceCAla [A]3124
42536653721 rs965226394 N.D. missenseGLys [K]3127
contig referenceCAsn [N]3127
42537401727 rs1453761645 N.D. synonymousTTyr [Y]3129
contig referenceCTyr [Y]3129
42537403729 rs774738397 0.000 missenseAHis [H]2130
contig referenceGArg [R]2130
42537406732 rs762337946 0.000 missenseCSer [S]2131
contig referenceATyr [Y]2131
42537409735 rs930930963 N.D. missenseGCys [C]2132
contig referenceATyr [Y]2132
42537418744 rs767776236 0.000byFreq missenseGGly [G]2135
contig referenceTVal [V]2135
42537421747 rs1460796923 N.D. frame shift-Lys [K]2137
contig referenceGCACThr [T]2137
42537422748 rs750741772 0.000byFreq synonymousTCys [C]3136
contig referenceCCys [C]3136
42537424750 rs534663244 0.000byFreqWith1000GenomeData0.0002 missenseTMet [M]2137
contig referenceCThr [T]2137
42537425751 rs1464521532 N.D. synonymousAThr [T]3137
contig referenceGThr [T]3137
42537427753 rs1418892725 N.D. missenseGArg [R]2138
contig referenceAGln [Q]2138
42537431757 rs766199293 0.000byFreq synonymousTSer [S]3139
contig referenceCSer [S]3139
42537433759 rs753520553 0.000byFreq missenseGCys [C]2140
contig referenceATyr [Y]2140
42537435761 rs61737294 0.013byClusterbyFreqWith1000GenomeData0.0238 YesmissenseAThr [T]1141
contig referenceTSer [S]1141
42537437763 rs659497 0.011byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0024 YessynonymousCSer [S]3141
contig referenceTSer [S]3141
42537437763 rs1024361024 N.D. frame shiftACThr [T]3142
contig reference-Phe [F]3142
42537437763 rs1250452161 N.D. frame shift-Ser [S]3142
contig referenceTPhe [F]3142
42537438764 rs1231108059 N.D. missenseCLeu [L]1142
missenseGVal [V]1142
contig referenceTPhe [F]1142
42537439765 rs1284410025 N.D. missenseCSer [S]2142
contig referenceTPhe [F]2142
42537440766 rs915734630 N.D. synonymousTPhe [F]3142
contig referenceCPhe [F]3142
42537441767 rs1367528849 N.D. missenseAMet [M]1143
contig referenceGVal [V]1143
42537442768 rs1354607897 N.D. missenseGGly [G]2143
contig referenceTVal [V]2143
42537446772 rs748042028 0.000 nonsenseA3144
contig referenceGTrp [W]3144
42537450776 rs907257030 N.D. missenseAAsn [N]1146
contig referenceGAsp [D]1146
42537458784 rs758301017 0.000 synonymousTAla [A]3148
contig referenceCAla [A]3148
42537459785 rs948535618 N.D. missenseASer [S]1149
contig referenceCArg [R]1149
42537460786 rs1489785243 N.D. missenseAHis [H]2149
missenseTLeu [L]2149
contig referenceGArg [R]2149
42537465791 rs1210937801 N.D. missenseALys [K]1151
contig referenceGGlu [E]1151
42537467793 rs1042897382 N.D. missenseTAsp [D]3151
contig referenceGGlu [E]3151
42537468794 rs1261241939 N.D. nonsenseT1152
contig referenceCArg [R]1152
42537469795 rs141018386 0.000byClusterbyFreq YesmissenseAGln [Q]2152
missenseTLeu [L]2152
contig referenceGArg [R]2152
42537471797 rs1352416909 N.D. nonsenseT1153
contig referenceGGlu [E]1153
42537473799 rs746876753 0.000 synonymousAGlu [E]3153
contig referenceGGlu [E]3153
42537475801 rs770684838 0.000byFreq missenseCThr [T]2154
missenseGArg [R]2154
contig referenceTIle [I]2154
42537479805 rs1238423614 N.D. -Glu [E]3155
42537480806 rs1438624192 N.D. missenseCArg [R]1156
contig referenceTTrp [W]1156
42537486812 rs542076832 0.000With1000GenomeData0.0002 missenseTSer [S]1158
contig referenceGAla [A]1158
42537488814 rs1052714676 N.D. synonymousCAla [A]3158
synonymousTAla [A]3158
contig referenceGAla [A]3158
42537490816 rs1181488196 N.D. missenseCPro [P]2159
contig referenceTLeu [L]2159
42537494820 rs768647156 0.000 synonymousCAsn [N]3160
contig referenceTAsn [N]3160
42537500826 rs1443964512 N.D. synonymousTIle [I]3162
contig referenceCIle [I]3162
42537502828 rs1251089952 N.D. missenseGSer [S]2163
contig referenceAAsn [N]2163
42537512838 rs1179039392 N.D. synonymousTLeu [L]3166
contig referenceGLeu [L]3166
42537513839 rs1162620871 N.D. missenseAThr [T]1167
contig referenceGAla [A]1167
42537514840 rs1388426138 N.D. missenseGGly [G]2167
missenseTVal [V]2167
contig referenceCAla [A]2167
42537515841 rs933727335 N.D. synonymousTAla [A]3167
contig referenceCAla [A]3167
42537520846 rs774419495 0.000 missenseAAsn [N]2169
contig referenceGSer [S]2169
42537521847 rs1378009555 N.D. synonymousTSer [S]3169
contig referenceCSer [S]3169
42537522848 rs762238741 0.000byFreq missenseASer [S]1170
contig referenceGGly [G]1170
42537524850 rs375661192 0.000byClusterbyFreq YessynonymousTGly [G]3170
contig referenceCGly [G]3170
42537525851 rs1196841690 N.D. nonsenseT1171
contig referenceCGln [Q]1171
42537541867 rs1245652816 N.D. missenseGArg [R]2176
contig referenceAGln [Q]2176
42537543869 rs370523900 0.000byCluster YesmissenseTTrp [W]1177
contig referenceCArg [R]1177
42537544870 rs1323850779 N.D. missenseAGln [Q]2177
contig referenceGArg [R]2177
42538344877 rs773878482 0.000 synonymousTTyr [Y]3179
contig referenceCTyr [Y]3179
42538347880 rs372524468 0.000 YessynonymousALeu [L]3180
contig referenceGLeu [L]3180
42538349882 rs149859697 0.000byClusterbyFreq YesmissenseAAsp [D]2181
contig referenceCAla [A]2181
42538354887 rs1056643237 N.D. missenseCArg [R]1183
contig referenceGGly [G]1183
42538355888 rs541061018 0.000With1000GenomeData0.0002 missenseCAla [A]2183
contig referenceGGly [G]2183
42538356889 rs1199726700 N.D. frame shift(11bp)Pro [P]3185
contig reference-Thr [T]3185
42538362895 rs918115221 N.D. synonymousTThr [T]3185
contig referenceCThr [T]3185
42538363896 rs1270564492 N.D. nonsenseT1186
contig referenceCGln [Q]1186
42538376909 rs375458666 0.000byClusterbyFreq YesmissenseGSer [S]2190
contig referenceAAsn [N]2190
42538377910 rs199786137 0.000byCluster YessynonymousCAsn [N]3190
contig referenceTAsn [N]3190
42538383916 rs765009822 0.000byFreq missenseALeu [L]3192
contig referenceCPhe [F]3192
42538387920 rs1422787660 N.D. missenseCPro [P]1194
contig referenceAThr [T]1194
42538389922 rs1477551606 N.D. synonymousCThr [T]3194
contig referenceTThr [T]3194
42538391924 rs1168343715 N.D. missenseAAsp [D]2195
contig referenceGGly [G]2195
42538395928 rs1361122249 N.D. synonymousGPro [P]3196
contig referenceTPro [P]3196
42538400933 rs752264680 0.000byFreq missenseATyr [Y]2198
contig referenceTPhe [F]2198
42538401934 rs1302694247 N.D. synonymousTPhe [F]3198
contig referenceCPhe [F]3198
42538411944 rs762576999 0.000 missenseAArg [R]1202
contig referenceGGly [G]1202
42538412945 rs762395389 N.D. missenseAGlu [E]2202
contig referenceGGly [G]2202
42538413946 rs113826639 N.D.byCluster YessynonymousAGly [G]3202
contig referenceGGly [G]3202
42538414947 rs1279412522 N.D. nonsenseT1203
contig referenceCArg [R]1203
42538415948 rs904118831 N.D. missenseAGln [Q]2203
contig referenceGArg [R]2203
42538418951 rs1000781222 N.D. missenseGArg [R]2204
contig referenceTMet [M]2204
42538419952 rs374904049 0.000byClusterWith1000GenomeData0.0002 YesmissenseTIle [I]3204
contig referenceGMet [M]3204
42538424957 rs1291552393 N.D. missenseGSer [S]2206
contig referenceAAsn [N]2206
42538426959 rs1052395549 N.D. missenseAMet [M]1207
contig referenceCLeu [L]1207
42538434967 rs200496310 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousGThr [T]3209
contig referenceCThr [T]3209
42538438971 rs145452809 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAAsn [N]1211
contig referenceGAsp [D]1211
42538449982 rs760370189 0.000 frame shiftCLeu [L]3217
contig reference-Ser [S]3217
42538450983 rs763896656 0.000 frame shift-Pro [P]1217
contig referenceCSer [S]1217
42538450983 rs1232044690 N.D. missenseTSer [S]1215
contig referenceCPro [P]1215
42538453986 rs780975701 0.000byFreq missenseTSer [S]1216
contig referenceCPro [P]1216
42538454987 rs750276054 0.000 missenseGArg [R]2216
missenseTLeu [L]2216
contig referenceCPro [P]2216
42538455988 rs755855749 0.000byFreq synonymousGPro [P]3216
contig referenceCPro [P]3216
42538461994 rs1262407073 N.D. nonsenseA3218
contig referenceGTrp [W]3218
42538464997 rs779235263 0.000 synonymousTHis [H]3219
contig referenceCHis [H]3219
425384681001 rs148408386 0.000byCluster YesmissenseGGlu [E]1221
contig referenceALys [K]1221
425384711004 rs748295614 0.000 nonsenseT1222
missenseGGlu [E]1222
contig referenceCGln [Q]1222
425384781011 rs772224894 0.000 missenseGCys [C]2224
contig referenceATyr [Y]2224
425384801013 rs1434034283 N.D. synonymousTLeu [L]1225
contig referenceCLeu [L]1225
425384821015 rs115680529 0.003byClusterbyFreqWith1000GenomeData0.0042 YessynonymousALeu [L]3225
synonymousTLeu [L]3225
contig referenceGLeu [L]3225
425386711020 rs747155746 0.000 missenseCPro [P]2227
contig referenceAHis [H]2227
425386721021 rs1435152431 N.D. synonymousTHis [H]3227
contig referenceCHis [H]3227
425386731022 rs368907396 0.000byClusterWith1000GenomeData0.0002 YesmissenseTTrp [W]1228
contig referenceCArg [R]1228
425386741023 rs146456266 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2228
missenseCPro [P]2228
contig referenceGArg [R]2228
425386761025 rs1447047279 N.D. missenseAIle [I]1229
contig referenceGVal [V]1229
425386991048 rs770221835 0.000byFreq synonymousTPhe [F]3236
contig referenceCPhe [F]3236
425387001049 rs1347490896 N.D. missenseASer [S]1237
contig referenceGGly [G]1237
425387011050 rs775646404 0.000 missenseAAsp [D]2237
contig referenceGGly [G]2237
425387031052 rs1320973052 N.D. missenseGVal [V]1238
contig referenceAMet [M]1238
425387101059 rs1221009492 N.D. missenseTLeu [L]2240
contig referenceCPro [P]2240
425387111060 rs892493572 N.D. synonymousTPro [P]3240
contig referenceAPro [P]3240
425387141063 rs140945842 0.000byClusterbyFreq YessynonymousAVal [V]3241
contig referenceGVal [V]3241
425387171066 rs1459295509 N.D. synonymousALeu [L]3242
synonymousTLeu [L]3242
contig referenceGLeu [L]3242
425387181067 rs768353229 0.000 missenseAThr [T]1243
missenseTSer [S]1243
contig referenceCPro [P]1243
425387201069 rs941869157 N.D. synonymousGPro [P]3243
contig referenceTPro [P]3243
425387211070 rs773988035 0.000 missenseAThr [T]1244
contig referenceGAla [A]1244
425387231072 rs200729468 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCAla [A]3244
synonymousGAla [A]3244
contig referenceAAla [A]3244
425387261075 rs539646032 0.000byFreqWith1000GenomeData0.0004 synonymousTPhe [F]3245
contig referenceCPhe [F]3245
425387271076 rs1415169705 N.D. missenseAThr [T]1246
contig referenceGAla [A]1246
425387281077 rs1405289098 N.D. missenseTVal [V]2246
contig referenceCAla [A]2246
425387291078 rs773222814 0.000 synonymousAAla [A]3246
contig referenceGAla [A]3246
425387321081 rs760463334 0.000byFreq synonymousCGly [G]3247
contig referenceGGly [G]3247
425387341083 rs1465855291 N.D. missenseGArg [R]2248
contig referenceAHis [H]2248
425387411090 rs539019626 0.000byClusterbyFreq synonymousTPro [P]3250
contig referenceCPro [P]3250
425387421091 rs753634837 0.000 missenseALys [K]1251
contig referenceGGlu [E]1251
425387441093 rs367604063 0.000byCluster YessynonymousAGlu [E]3251
contig referenceGGlu [E]3251
425387471096 rs752423543 N.D. synonymousCAla [A]3252
contig referenceTAla [A]3252
425387481097 rs764452721 0.000byFreq missenseAIle [I]1253
contig referenceGVal [V]1253
425387521101 rs751812997 0.000 missenseTIle [I]2254
contig referenceCThr [T]2254
425387531102 rs1231353495 N.D. synonymousAThr [T]3254
contig referenceCThr [T]3254
425409571112 rs1160168612 N.D. missenseAThr [T]1258
missenseTSer [S]1258
contig referenceCPro [P]1258
425409601115 rs1361165942 N.D. missenseGGlu [E]1259
contig referenceCGln [Q]1259
425409621117 rs779208941 0.000 synonymousAGln [Q]3259
contig referenceGGln [Q]3259
425409631118 rs747812274 0.000 missenseAIle [I]1260
contig referenceGVal [V]1260
425409641119 rs1324732389 N.D. missenseCAla [A]2260
contig referenceTVal [V]2260
425409651120 rs1411789843 N.D. synonymousAVal [V]3260
contig referenceCVal [V]3260
425409671122 rs771770163 0.000byFreq missenseGSer [S]2261
contig referenceAAsn [N]2261
425409681123 rs1275689779 N.D. synonymousCAsn [N]3261
contig referenceTAsn [N]3261
425409731128 rs777479452 0.000byFreq missenseTMet [M]2263
contig referenceCThr [T]2263
425409741129 rs746543896 0.000 synonymousAThr [T]3263
contig referenceGThr [T]3263
425409801135 rs1288581944 N.D. missenseTIle [I]3265
contig referenceGMet [M]3265
425409811136 rs1355105347 N.D. missenseASer [S]1266
contig referenceGGly [G]1266
425409851140 rs1205026597 N.D. missenseTIle [I]2267
contig referenceGSer [S]2267
425409911146 rs770456538 0.000 missenseAAsp [D]2269
contig referenceGGly [G]2269
425409981153 rs776459470 0.000byClusterbyFreq synonymousCPhe [F]3271
contig referenceTPhe [F]3271
425409991154 rs1198878793 N.D. missenseCHis [H]1272
contig referenceAAsn [N]1272
425410021157 rs759511446 0.000byFreq missenseCArg [R]1273
contig referenceTCys [C]1273
425410041159 rs1186172634 N.D. synonymousCCys [C]3273
contig referenceTCys [C]3273
425410041159 rs1452185692 N.D. frame shift-Pro [P]3274
contig referenceTSer [S]3274
425410081163 rs1160300817 N.D. missenseCHis [H]1275
contig referenceTTyr [Y]1275
425410091164 rs1025860195 N.D. missenseCSer [S]2275
contig referenceATyr [Y]2275
425410101165 rs1419069826 N.D. nonsenseG3275
contig referenceCTyr [Y]3275
425410121167 rs769713129 0.000 missenseGCys [C]2276
missenseTPhe [F]2276
contig referenceCSer [S]2276
425410131168 rs1308799224 N.D. -3277
425410171172 rs756865833 0.000 frame shift-Trp [W]1280
contig referenceTCCTLeu [L]1280
425410181173 rs775364669 0.000 missenseTPhe [F]2278
contig referenceCSer [S]2278
425410241179 rs1392732615 N.D. missenseCPro [P]2280
contig referenceTLeu [L]2280
425410271182 rs762824649 0.000 missenseCPro [P]2281
contig referenceTLeu [L]2281
425410291184 rs1213661260 N.D. missenseAThr [T]1282
contig referenceGAla [A]1282
425410301185 rs144771528 0.000byClusterbyFreq YesmissenseTVal [V]2282
contig referenceCAla [A]2282
425410331188 rs750625891 0.000 missenseTLeu [L]2283
contig referenceCPro [P]2283
425410331188 rs780663661 0.000 frame shiftGGly [G]2284
contig reference-Glu [E]2284
425410341189 rs201374620 0.000byClusterWith1000GenomeData0.0002 YessynonymousAPro [P]3283
contig referenceGPro [P]3283
425410391194 rs1438953428 N.D. missenseTVal [V]2285
contig referenceAAsp [D]2285
425410461201 rs1297375688 N.D. missenseGMet [M]3287
contig referenceAIle [I]3287
425410511206 rs1311969319 N.D. missenseTLeu [L]2289
contig referenceCPro [P]2289
425410531208 rs766432675 0.000 missenseGVal [V]1290
contig referenceAIle [I]1290
425410561211 rs199625480 0.000byClusterbyFreq YesmissenseCLeu [L]1291
contig referenceAIle [I]1291
425410581213 rs146734024 0.000byClusterbyFreq YessynonymousTIle [I]3291
contig referenceCIle [I]3291
425410591214 rs1358994052 N.D. missenseAArg [R]1292
missenseCArg [R]1292
contig referenceGGly [G]1292
425410601215 rs1209988199 N.D. missenseCAla [A]2292
contig referenceGGly [G]2292
425410641219 rs1271976571 N.D. synonymousTSer [S]3293
contig referenceCSer [S]3293
425410651220 rs779380732 0.000byFreq missenseTPhe [F]1294
contig referenceCLeu [L]1294
425410671222 rs753128312 0.000 synonymousTLeu [L]3294
contig referenceCLeu [L]3294
425410701225 rs752131463 0.000byClusterbyFreq frame shift-Cys [C]3296
contig referenceCLeu [L]3296
425410711226 rs1328217490 N.D. missenseAMet [M]1296
contig referenceCLeu [L]1296
425410751230 rs200625281 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2297
contig referenceGArg [R]2297
425410791234 rs746626709 0.000 synonymousAGlu [E]3298
contig referenceGGlu [E]3298
425410841239 rs371351618 0.000byClusterbyFreq YesmissenseCThr [T]2300
missenseGSer [S]2300
contig referenceTIle [I]2300
425410931248 rs1165808621 N.D. missenseATyr [Y]2303
contig referenceTPhe [F]2303
425410941249 rs140386564 0.000byCluster YessynonymousCPhe [F]3303
contig referenceTPhe [F]3303
425410951250 rs1475108948 N.D. missenseASer [S]1304
contig referenceGGly [G]1304
425410971252 rs1459904546 N.D. synonymousTGly [G]3304
contig referenceCGly [G]3304
425411021257 rs745809575 0.000 missenseGGly [G]2306
contig referenceAAsp [D]2306
425411071262 rs1401226079 N.D. missenseGVal [V]1308
contig referenceAIle [I]1308
425411081263 rs769906383 0.000 missenseCThr [T]2308
contig referenceTIle [I]2308
425411111266 rs1305299665 N.D. missenseGCys [C]2309
missenseTPhe [F]2309
contig referenceATyr [Y]2309
425411131268 rs1480640960 N.D. missenseAArg [R]1310
contig referenceGGly [G]1310
425411141269 rs775561029 0.000byFreq missenseCAla [A]2310
missenseTVal [V]2310
contig referenceGGly [G]2310
425411151270 rs1246139842 N.D. synonymousAGly [G]3310
contig referenceGGly [G]3310
425411171272 rs1292183345 N.D. missenseAAsp [D]2311
contig referenceCAla [A]2311
425411191274 rs1052471595 N.D. missenseAAsn [N]1312
contig referenceGAsp [D]1312
425411211276 rs1258320823 N.D. missenseGGlu [E]3312
contig referenceCAsp [D]3312
425411261281 rs1181487342 N.D. missenseGCys [C]2314
contig referenceTPhe [F]2314
425411291284 rs1193928866 N.D. missenseGSer [S]2315
contig referenceAAsn [N]2315
425411351290 rs1257983011 N.D. frame shiftAAIle [I]2317
contig reference-Met [M]2317
425411371292 rs1424367377 N.D. nonsenseT1318
contig referenceCGln [Q]1318
425411461301 rs1320939608 N.D. missenseAThr [T]1321
contig referenceTSer [S]1321
425411481303 rs760910696 0.000 synonymousASer [S]3321
synonymousTSer [S]3321
contig referenceCSer [S]3321
425411501305 rs766374195 0.000 missenseTLeu [L]2322
contig referenceCSer [S]2322
425411511306 rs946011344 N.D. frame shift-Ala [A]3323
contig referenceAGGlu [E]3323
425411541309 rs1474272372 N.D. missenseTAsp [D]3323
synonymousAGlu [E]3323
contig referenceGGlu [E]3323
425411601315 rs1172822987 N.D. synonymousTSer [S]3325
contig referenceCSer [S]3325
425411641319 rs776750536 0.000 missenseTPhe [F]1327
contig referenceCLeu [L]1327
425411691324 rs759609134 0.000byFreq synonymousTAla [A]3328
contig referenceCAla [A]3328
425411701325 rs765774149 0.000 missenseAThr [T]1329
contig referenceGAla [A]1329
425411741329 rs1324196363 N.D. missenseTVal [V]2330
contig referenceCAla [A]2330
425411751330 rs1051441744 N.D. synonymousTAla [A]3330
contig referenceCAla [A]3330
425411781333 rs753183280 0.000 synonymousTThr [T]3331
contig referenceCThr [T]3331
425411791334 rs1396937813 N.D. missenseGAla [A]1332
contig referenceAThr [T]1332
425411801335 rs758715395 0.000 missenseTIle [I]2332
contig referenceCThr [T]2332
425411811336 rs764483473 0.000 synonymousCThr [T]3332
contig referenceTThr [T]3332
425411821337 rs1034859936 N.D. missenseAThr [T]1333
contig referenceGAla [A]1333
425411841339 rs959173039 N.D. synonymousTAla [A]3333
contig referenceCAla [A]3333
425411851340 rs749140168 0.000 missenseAIle [I]1334
contig referenceGVal [V]1334
425411871342 rs55801863 N.D. YessynonymousTVal [V]3334
contig referenceCVal [V]3334
425411891344 rs768918822 N.D. missenseGCys [C]2335
contig referenceATyr [Y]2335
425411901345 rs756871462 0.000byFreq synonymousCTyr [Y]3335
contig referenceTTyr [Y]3335
425411911346 rs376090795 0.000byCluster YesnonsenseT1336
contig referenceGGlu [E]1336
425411941349 rs1483467536 N.D. missenseAThr [T]1337
contig referenceGAla [A]1337
425411971352 rs1209808701 N.D. missenseGVal [V]1338
contig referenceAMet [M]1338
425411991354 rs745434298 0.000 missenseAIle [I]3338
contig referenceGMet [M]3338
425412001355 rs755652019 0.000 missenseCPro [P]1339
contig referenceAThr [T]1339
425412011356 rs1196007331 N.D. missenseGSer [S]2339
missenseTIle [I]2339
contig referenceCThr [T]2339
425412031358 rs780187288 0.000 missenseTSer [S]1340
contig referenceGAla [A]1340
425430291363 rs1267291000 N.D. synonymousTVal [V]3341
contig referenceGVal [V]3341
425430341368 rs1469114327 N.D. missenseTIle [I]2343
contig referenceCThr [T]2343
425430381372 rs771833491 0.000 synonymousAGlu [E]3344
contig referenceGGlu [E]3344
425430501384 rs776863513 0.000 synonymousTLeu [L]3348
contig referenceGLeu [L]3348
425430511385 rs746052542 0.000 missenseTPhe [F]1349
contig referenceCLeu [L]1349
425430561390 rs1036664928 N.D. synonymousGGln [Q]3350
contig referenceAGln [Q]3350
425430581392 rs376582504 0.000byCluster YesmissenseCAla [A]2351
contig referenceGGly [G]2351
425430621396 rs1231094627 N.D. missenseCCys [C]3352
contig referenceGTrp [W]3352
425430631397 rs1417836116 N.D. missenseTPhe [F]1353
contig referenceCLeu [L]1353
425430651399 rs775586487 0.000byFreq synonymousTLeu [L]3353
contig referenceCLeu [L]3353
425430661400 rs762923760 0.000 missenseGVal [V]1354
contig referenceTPhe [F]1354
425430671401 rs769268314 0.000byFreq missenseCSer [S]2354
contig referenceTPhe [F]2354
425430681402 rs1180591588 N.D. frame shift-Ser [S]3355
contig referenceCGln [Q]3355
425430691403 rs774687078 0.000byFreq missenseGGlu [E]1355
contig referenceCGln [Q]1355
425430701404 rs762284756 0.000 missenseTLeu [L]2355
contig referenceAGln [Q]2355
425430711405 rs1323512718 N.D. missenseCHis [H]3355
contig referenceGGln [Q]3355
425430731407 rs201869866 0.022byClusterbyFreq YesmissenseCPro [P]2356
missenseGArg [R]2356
contig referenceAHis [H]2356
425430731407 rs748530878 0.000byFreq CCAGCC [PQ]2359
425430741408 rs753745933 N.D. synonymousTHis [H]3356
contig referenceCHis [H]3356
425430791413 rs368687817 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTLeu [L]2358
contig referenceCPro [P]2358
425430801414 rs760335984 0.000byFreq synonymousAPro [P]3358
synonymousTPro [P]3358
contig referenceGPro [P]3358
425430871421 rs766000735 0.000byFreq missenseCArg [R]1361
contig referenceTTrp [W]1361
425430881422 rs753454744 0.000 missenseCSer [S]2361
contig referenceGTrp [W]2361
425430921426 rs754413995 0.000byFreq synonymousAGly [G]3362
contig referenceGGly [G]3362
425430931427 rs1232689436 N.D. missenseTSer [S]1363
contig referenceCPro [P]1363
425430951429 rs778956418 0.000byFreq synonymousGPro [P]3363
synonymousTPro [P]3363
contig referenceCPro [P]3363
425430961430 rs1459252305 N.D. missenseAThr [T]1364
contig referenceGAla [A]1364
425431011435 rs754764611 N.D. missenseTHis [H]3365
contig referenceGGln [Q]3365
425431041438 rs758217901 0.000 missenseGMet [M]3366
contig referenceCIle [I]3366
425431071441 rs1263224496 N.D. missenseTSer [S]3367
contig referenceGArg [R]3367
425431111445 rs777474441 0.000 missenseTLeu [L]1369
contig referenceGVal [V]1369
425431131447 rs1479965895 N.D. synonymousTVal [V]3369
contig referenceGVal [V]3369
425431191453 rs1469438575 N.D. synonymousGGly [G]3371
contig referenceAGly [G]3371
425431221456 rs1184145784 N.D. synonymousAAla [A]3372
contig referenceTAla [A]3372
425431251459 rs371656965 0.001byClusterbyFreq YessynonymousTVal [V]3373
contig referenceGVal [V]3373
425431261460 rs770055150 0.000 missenseTSer [S]1374
contig referenceCPro [P]1374
425431281462 rs780139603 0.000byFreq synonymousGPro [P]3374
synonymousTPro [P]3374
contig referenceCPro [P]3374
425431291463 rs534847909 0.000With1000GenomeData0.0002 missenseTCys [C]1375
contig referenceCArg [R]1375
425431301464 rs768600049 0.000byFreq missenseAHis [H]2375
contig referenceGArg [R]2375
425431341468 rs774946603 0.000 synonymousAGly [G]3376
contig referenceCGly [G]3376
425431351469 rs762372103 0.000 missenseTCys [C]1377
contig referenceCArg [R]1377
425431361470 rs199850748 0.000byClusterbyFreq YesmissenseAHis [H]2377
contig referenceGArg [R]2377
425431421476 rs770046981 0.000 frame shiftGGly [G]2380
contig reference-Val [V]2380
425431601494 rs773653759 0.000 missenseTVal [V]2385
contig referenceCAla [A]2385
425431611495 rs1012644759 N.D. synonymousCAla [A]3385
contig referenceTAla [A]3385
425431621496 rs761107171 0.000 missenseALys [K]1386
contig referenceGGlu [E]1386
425431641498 rs1232821300 N.D. missenseCAsp [D]3386
contig referenceGGlu [E]3386
425431671501 rs1405249872 N.D. missenseGArg [R]3387
contig referenceCSer [S]3387
425431681502 rs879111128 N.D.byCluster nonsenseT1388
contig referenceCGln [Q]1388
425431721506 rs1341789687 N.D. missenseTLeu [L]2389
contig referenceCPro [P]2389
425431821516 rs766094935 0.000byFreq synonymousTThr [T]3392
contig referenceCThr [T]3392
425431831517 rs1272515676 N.D. missenseTCys [C]1393
contig referenceCArg [R]1393
425431841518 rs753409259 0.000 missenseAHis [H]2393
missenseTLeu [L]2393
contig referenceGArg [R]2393
425431861520 rs1188105904 N.D. missenseGAla [A]1394
contig referenceAThr [T]1394
425431961530 rs959178625 N.D. missenseGCys [C]2397
contig referenceTPhe [F]2397
425431981532 rs553293896 0.000byFreqWith1000GenomeData0.0004 missenseALys [K]1398
contig referenceCGln [Q]1398
425432001534 rs1176241533 N.D. missenseCHis [H]3398
contig referenceGGln [Q]3398
425432021536 rs764610727 0.000 missenseTVal [V]2399
contig referenceGGly [G]2399
425432061540 rs752682040 0.000 synonymousAGln [Q]3400
contig referenceGGln [Q]3400
425432061540 rs1485628563 N.D. frame shift-His [H]3400
contig referenceGGln [Q]3400
425432091543 rs1264683485 N.D. synonymousGPro [P]3401
contig referenceCPro [P]3401
425432131547 rs1488695477 N.D. missenseCLeu [L]1403
contig referenceAIle [I]1403
425432151549 rs758270880 0.000 synonymousAIle [I]3403
contig referenceCIle [I]3403
425432171551 rs904672363 N.D. nonsenseA2404
contig referenceGTrp [W]2404
425432181552 rs777670507 0.000byFreq nonsenseA3404
missenseCCys [C]3404
contig referenceGTrp [W]3404
425432281562 rs757018169 0.000byFreq missenseTTyr [Y]1408
contig referenceCHis [H]1408
425432301564 rs780376108 0.000byFreq synonymousTHis [H]3408
contig referenceCHis [H]3408
425432331567 rs867144558 N.D. synonymousTAsn [N]3409
contig referenceCAsn [N]3409
425432351569 rs574688121 0.000byFreqWith1000GenomeData0.0002 missenseATyr [Y]2410
missenseCSer [S]2410
contig referenceTPhe [F]2410
425432391573 rs1412833749 N.D. synonymousTGly [G]3411
contig referenceGGly [G]3411
425432441578 rs759306355 N.D.byCluster missenseGSer [S]2413
contig referenceAAsn [N]2413
425432471581 rs768814260 0.000byFreq missenseGArg [R]2414
contig referenceAHis [H]2414
425432511585 rs1328307777 N.D. synonymousCGly [G]3415
contig referenceTGly [G]3415
425432541588 rs752902943 N.D. synonymousALeu [L]3416
contig referenceTLeu [L]3416
425432601594 rs374706006 0.000byCluster YessynonymousTGly [G]3418
contig referenceAGly [G]3418
425432621596 rs35145991 N.D. Yesframe shift-2420
contig referenceCLeu [L]2420
425432661600 rs748680232 0.000 synonymousGLeu [L]3420
contig referenceALeu [L]3420
425432671601 rs772765165 0.000 missenseALys [K]1421
contig referenceGGlu [E]1421
425432701604 rs1360051608 N.D. missenseAThr [T]1422
contig referenceGAla [A]1422
425432731607 rs1237047553 N.D. missenseAMet [M]1423
contig referenceGVal [V]1423
425432781612 rs200715586 0.000byClusterbyFreq YesmissenseGLys [K]3424
synonymousTAsn [N]3424
contig referenceCAsn [N]3424
425432791613 rs922118065 N.D. missenseAArg [R]1425
contig referenceGGly [G]1425
425432811615 rs542111369 0.000With1000GenomeData0.0002 synonymousGGly [G]3425
contig referenceAGly [G]3425
425432831617 rs771151036 0.000 missenseAAsp [D]2426
missenseCAla [A]2426
contig referenceGGly [G]2426
425432841618 rs1447090076 N.D. synonymousTGly [G]3426
contig referenceCGly [G]3426
425432911625 rs372165410 0.000byCluster YesmissenseAThr [T]1429
contig referenceGAla [A]1429
425432941628 rs776375237 0.000 missenseAThr [T]1430
contig referenceGAla [A]1430
425432971631 rs759041924 0.000 missenseTCys [C]1431
contig referenceCArg [R]1431
425433021636 rs930790545 N.D. synonymousGLeu [L]3432
contig referenceCLeu [L]3432
425433061640 rs1433340321 N.D. missenseTSer [S]1434
contig referenceCPro [P]1434
425433101644 rs764815033 0.000 missenseCThr [T]2435
missenseGSer [S]2435
contig referenceAAsn [N]2435
425433111645 rs1049139446 N.D. missenseGLys [K]3435
synonymousTAsn [N]3435
contig referenceCAsn [N]3435
425433121646 rs1432587285 N.D. missenseCPro [P]1436
contig referenceTSer [S]1436
425433141648 rs775035658 0.000byFreq synonymousTSer [S]3436
contig referenceCSer [S]3436
425433161650 rs762440900 0.000byFreq missenseGSer [S]2437
contig referenceCThr [T]2437
425433201654 rs886493431 N.D. missenseAIle [I]3438
missenseCIle [I]3438
contig referenceGMet [M]3438
425433291663 rs751479777 0.000 synonymousAThr [T]3441
contig referenceGThr [T]3441
425433311665 rs1443354789 N.D. missenseAAsp [D]2442
contig referenceGGly [G]2442
425433321666 rs757069066 0.000 synonymousAGly [G]3442
contig referenceCGly [G]3442
425433341668 rs1299459381 N.D. missenseCThr [T]2443
contig referenceTMet [M]2443
425433351669 rs1370763282 N.D. missenseAIle [I]3443
contig referenceGMet [M]3443
425433361670 rs1045767846 N.D. missenseAThr [T]1444
contig referenceGAla [A]1444
425433371671 rs767179184 0.000byFreq missenseAAsp [D]2444
missenseTVal [V]2444
contig referenceCAla [A]2444
425433391673 rs755099500 0.000byFreq missenseTSer [S]1445
contig referenceCPro [P]1445
425433411675 rs202033889 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTPro [P]3445
contig referenceCPro [P]3445
425433421676 rs114625063 0.000byClusterWith1000GenomeData YesmissenseALys [K]1446
contig referenceGGlu [E]1446
425433441678 rs1280672579 N.D. synonymousAGlu [E]3446
contig referenceGGlu [E]3446
425433521686 rs114605439 0.001byClusterbyFreqWith1000GenomeData0.0012 YesmissenseAAsn [N]2449
contig referenceGSer [S]2449
425433541688 rs1213961819 N.D. nonsenseT1450
missenseGGlu [E]1450
contig referenceCGln [Q]1450
425433561690 rs143689867 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTHis [H]3450
synonymousAGln [Q]3450
contig referenceGGln [Q]3450
425433561690 rs1360610165 N.D. frame shiftALys [K]3451
contig reference-Asn [N]3451
425433591693 rs200029453 0.000byClusterWith1000GenomeData0.0002 YessynonymousTAsn [N]3451
contig referenceCAsn [N]3451
425433601694 rs1183634153 N.D. missenseALys [K]1452
contig referenceGGlu [E]1452
425433611695 rs1173485017 N.D. missenseGGly [G]2452
contig referenceAGlu [E]2452
425433651699 rs771329501 0.000byFreq synonymousAVal [V]3453
contig referenceGVal [V]3453
425433661700 rs776800328 0.000 missenseTPhe [F]1454
contig referenceGVal [V]1454
425433731707 rs775097044 0.000 missenseTPhe [F]2456
contig referenceCSer [S]2456
425433741708 rs762502127 0.000 synonymousTSer [S]3456
contig referenceCSer [S]3456
425433781712 rs1326856123 N.D. missenseGVal [V]1458
contig referenceAMet [M]1458
425433841718 rs1393932789 N.D. missenseCGln [Q]1460
contig referenceGGlu [E]1460
425433861720 rs1439241856 N.D. synonymousAGlu [E]3460
contig referenceGGlu [E]3460
425433901724 rs763548662 0.000 missenseCArg [R]1462
contig referenceGGly [G]1462
425433911725 rs1336916719 N.D. missenseAAsp [D]2462
contig referenceGGly [G]2462
425433921726 rs1238922003 N.D. synonymousTGly [G]3462
contig referenceCGly [G]3462
425433931727 rs1003489528 N.D. missenseCArg [R]1463
contig referenceTTrp [W]1463
425433961730 rs138387856 0.000byCluster YesnonsenseT1464
contig referenceCArg [R]1464
425433971731 rs377282648 0.000byClusterbyFreq YesmissenseAGln [Q]2464
contig referenceGArg [R]2464
425433991733 rs751091147 N.D. missenseGGlu [E]1465
contig referenceALys [K]1465
425434011735 rs767360328 0.000 synonymousALys [K]3465
contig referenceGLys [K]3465
425434041738 rs1466856426 N.D. missenseGGlu [E]3466
contig referenceCAsp [D]3466
425434071741 rs143938936 0.000byClusterbyFreq YessynonymousGPro [P]3467
contig referenceAPro [P]3467
425434111745 rs894998392 N.D. missenseGAla [A]1469
contig referenceCPro [P]1469
425434211755 rs866079238 N.D.byCluster missenseTVal [V]2472
contig referenceCAla [A]2472
425434311765 rs1250949842 N.D. frame shift-Pro [P]3476
contig referenceGThr [T]3476
425434351769 rs1437211819 N.D. missenseGGly [G]1477
contig referenceASer [S]1477
425434361770 rs369970264 0.000byClusterbyFreq YesmissenseCThr [T]2477
contig referenceGSer [S]2477
425434411775 rs202115696 0.000byClusterbyFreqWith1000GenomeData YesmissenseAThr [T]1479
contig referenceGAla [A]1479
425434421776 rs1476229395 N.D. missenseTVal [V]2479
contig referenceCAla [A]2479
425434431777 rs752918057 0.000byFreq synonymousTAla [A]3479
contig referenceCAla [A]3479
425434441778 rs147293270 0.002byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAThr [T]1480
contig referenceGAla [A]1480
425434451779 rs777931564 0.000 missenseGGly [G]2480
contig referenceCAla [A]2480
425434471781 rs747529593 0.000 missenseGGly [G]1481
missenseTTrp [W]1481
contig referenceCArg [R]1481
425434481782 rs868244206 N.D.byCluster missenseAGln [Q]2481
contig referenceGArg [R]2481
425434511785 rs200909691 0.000byClusterWith1000GenomeData0.0002 YesmissenseAGln [Q]2482
contig referenceGArg [R]2482
425434521786 rs115994665 0.002byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAArg [R]3482
contig referenceGArg [R]3482
425434521786 rs778021009 0.000byFreq frame shiftTLeu [L]3483
contig reference-Tyr [Y]3483
425434551789 rs749338526 0.000 frame shiftGGly [G]3485
contig reference-Val [V]3485
425434571791 rs1414938684 N.D. missenseAGlu [E]2484
contig referenceGGly [G]2484
425434581792 rs376593763 0.000byClusterbyFreq YessynonymousAGly [G]3484
contig referenceGGly [G]3484
425434591793 rs1332288767 N.D. missenseTPhe [F]1485
contig referenceGVal [V]1485
425434631797 rs779707775 0.000 missenseTPhe [F]2486
contig referenceCSer [S]2486
425434651799 rs1251490131 N.D. missenseTTyr [Y]1487
contig referenceCHis [H]1487
425434661800 rs1396150639 N.D. frame shiftCGly [G]2489
contig reference-Asp [D]2489
425434671801 rs965655357 N.D. missenseAGln [Q]3487
synonymousTHis [H]3487
contig referenceCHis [H]3487
425434681802 rs868019338 N.D.byCluster missenseAThr [T]1488
contig referenceCPro [P]1488
425434691803 rs748902330 0.000 missenseTLeu [L]2488
contig referenceCPro [P]2488
425434701804 rs140956564 0.000byClusterbyFreqWith1000GenomeData0.0008 YessynonymousAPro [P]3488
contig referenceGPro [P]3488
425434731807 rs115550028 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTAsp [D]3489
contig referenceCAsp [D]3489
425434741808 rs761373883 0.000 missenseAThr [T]1490
contig referenceGAla [A]1490
425434781812 rs771970841 0.000 missenseCAla [A]2491
contig referenceGGly [G]2491
425434801814 rs930823153 N.D. missenseAThr [T]1492
contig referenceGAla [A]1492
425434841818 rs773171472 0.000byFreq missenseTVal [V]2493
contig referenceCAla [A]2493
425434851819 rs113379621 0.000byFreq YessynonymousAAla [A]3493
contig referenceGAla [A]3493
425434871821 rs1461799623 N.D. nonsenseA2494
contig referenceGTrp [W]2494
425434881822 rs1165365401 N.D. nonsenseA3494
contig referenceGTrp [W]3494
425434901824 rs1167097629 N.D. missenseTMet [M]2495
contig referenceGArg [R]2495
425434921826 rs1377858070 N.D. synonymousTLeu [L]1496
contig referenceCLeu [L]1496
425434931827 rs569519789 0.000byFreqWith1000GenomeData0.0004 missenseCPro [P]2496
contig referenceTLeu [L]2496
425434941828 rs752971320 0.000 synonymousCLeu [L]3496
synonymousGLeu [L]3496
contig referenceALeu [L]3496
425434951829 rs1353058781 N.D. missenseGVal [V]1497
contig referenceCLeu [L]1497
425435011835 rs200981229 0.000byClusterbyFreq YesmissenseTTrp [W]1499
contig referenceCArg [R]1499
425435021836 rs368183484 0.000byClusterbyFreq YesmissenseAGln [Q]2499
contig referenceGArg [R]2499
425435031837 rs1325481291 N.D. synonymousTArg [R]3499
contig referenceGArg [R]3499
425435061840 rs1225039564 N.D. synonymousCSer [S]3500
contig referenceTSer [S]3500
425435071841 rs1300652650 N.D. missenseAMet [M]1501
contig referenceGVal [V]1501
425435091843 rs537078152 0.002byFreqWith1000GenomeData0.0014 synonymousAVal [V]3501
contig referenceGVal [V]3501
425435101844 rs1414858414 N.D. missenseAAsn [N]1502
contig referenceTTyr [Y]1502
425435121846 rs1348547753 N.D. synonymousTTyr [Y]3502
contig referenceCTyr [Y]3502
425435141848 rs757325483 0.000 missenseCThr [T]2503
missenseGSer [S]2503
contig referenceAAsn [N]2503
425435151849 rs781603010 0.000 synonymousTAsn [N]3503
contig referenceCAsn [N]3503
425435181852 rs750897125 0.000 synonymousTCys [C]3504
contig referenceCCys [C]3504
425435201854 rs1451481071 N.D. missenseATyr [Y]2505
contig referenceCSer [S]2505
425435211855 rs112751577 0.005byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTSer [S]3505
contig referenceCSer [S]3505
425435221856 rs1262778017 N.D. missenseAArg [R]1506
missenseTTrp [W]1506
contig referenceGGly [G]1506
425435231857 rs780331968 0.000byFreq missenseAGlu [E]2506
contig referenceGGly [G]2506
425435261860 rs1046216799 N.D. missenseCAla [A]2507
contig referenceAGlu [E]2507
425435281862 rs1187121246 N.D. missenseAThr [T]1508
missenseTSer [S]1508
contig referenceGAla [A]1508
425435291863 rs1397237266 N.D. missenseAAsp [D]2508
contig referenceCAla [A]2508
425435301864 rs1435687913 N.D. synonymousGAla [A]3508
contig referenceCAla [A]3508
425435321866 rs372781575 0.000byCluster YesmissenseATyr [Y]2509
contig referenceGCys [C]2509
425435341868 rs1357877182 N.D. missenseGGly [G]1510
contig referenceAArg [R]1510
425435371871 rs770129454 N.D. missenseASer [S]1511
contig referenceGGly [G]1511
425435381872 rs1288926584 N.D. missenseAAsp [D]2511
missenseTVal [V]2511
contig referenceGGly [G]2511
425435391873 rs768357311 0.000 synonymousTGly [G]3511
contig referenceCGly [G]3511
425435441878 rs200465065 0.000byClusterWith1000GenomeData0.0002 YesmissenseGSer [S]2513
contig referenceAAsn [N]2513
425435461880 rs747653638 0.000byFreq missenseTCys [C]1514
contig referenceCArg [R]1514
425435471881 rs771560656 0.000byClusterbyFreq missenseAHis [H]2514
missenseTLeu [L]2514
contig referenceGArg [R]2514
425435511885 rs1233220699 N.D. synonymousTSer [S]3515
contig referenceCSer [S]3515