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dbSNP

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SNP linked to Gene (geneID:2817) 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
XM_011510976.2plus strandXP_011509278.1forwardNT_005403.18GRCh38.p7<- currently shown
NM_002081.2plus strandNP_002072.2forwardNT_005403.18GRCh38.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_005403.18XM_011510976.2XP_011509278.1forwardplus strand731, 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
24043572831 rs942559412 N.D. -
24043574245 rs933640135 N.D. -
24043574245 rs1273015360 N.D. -
240435919222 rs913576676 N.D. missenseCLeu [L]11
contig referenceAMet [M]11
240435926229 rs1394707163 N.D. missenseCPro [P]23
contig referenceTLeu [L]23
240435928231 rs753510735 0.000byFreq missenseGGly [G]14
missenseTTrp [W]14
contig referenceCArg [R]14
240435930233 rs754379371 0.000byFreq synonymousAArg [R]34
contig referenceGArg [R]34
240435931234 rs1410607732 N.D. missenseAThr [T]15
missenseCPro [P]15
contig referenceGAla [A]15
240435935238 rs904975729 N.D. missenseAGln [Q]26
contig referenceGArg [R]26
240435937240 rs1427085751 N.D. missenseASer [S]17
contig referenceGGly [G]17
240435945248 rs1470947612 N.D. -311
240435946249 rs1250173110 N.D. missenseAMet [M]110
contig referenceCLeu [L]110
240435951254 rs1197256053 N.D. synonymousGLeu [L]311
contig referenceALeu [L]311
240435955258 rs778500540 0.000 missenseAThr [T]113
contig referenceGAla [A]113
240435956259 rs1182027761 N.D. missenseTVal [V]213
contig referenceCAla [A]213
240435958261 rs1365162604 N.D. missenseAThr [T]114
contig referenceGAla [A]114
240435959262 rs1187443429 N.D. missenseTVal [V]214
contig referenceCAla [A]214
240435960263 rs368257285 0.003byClusterbyFreq synonymousTAla [A]314
contig referenceCAla [A]314
240435961264 rs1172467094 N.D. missenseTSer [S]115
contig referenceGAla [A]115
240435963266 rs1376051545 N.D. synonymousTAla [A]315
contig referenceAAla [A]315
240435966269 rs1436441852 N.D. synonymousCAla [A]316
contig referenceGAla [A]316
240435969272 rs1463590275 N.D. synonymousALeu [L]317
contig referenceGLeu [L]317
240435971274 rs1267662619 N.D. missenseCAla [A]218
contig referenceTVal [V]218
240435974277 rs1205617623 N.D. missenseGGly [G]219
contig referenceCAla [A]219
240435975278 rs1296245610 N.D. synonymousGAla [A]319
synonymousTAla [A]319
contig referenceCAla [A]319
240435978281 rs1273032433 N.D. synonymousTCys [C]320
contig referenceCCys [C]320
240435982285 rs771468406 0.000 missenseTCys [C]122
contig referenceCArg [R]122
240435983286 rs781775309 0.000 missenseAHis [H]222
missenseCPro [P]222
missenseTLeu [L]222
contig referenceGArg [R]222
240435985288 rs1309482059 N.D. frame shift-Thr [T]124
contig referenceGAsp [D]124
240435988291 rs746217340 0.000byCluster missenseAAsn [N]124
missenseTTyr [Y]124
contig referenceGAsp [D]124
240435990293 rs1305104293 N.D. missenseGGlu [E]324
contig referenceCAsp [D]324
240435991294 rs770308164 0.000 missenseGAla [A]125
contig referenceCPro [P]125
240435992295 rs775810683 0.000byCluster missenseAGln [Q]225
missenseTLeu [L]225
contig referenceCPro [P]225
240435994297 rs1350689058 N.D. missenseAThr [T]126
contig referenceGAla [A]126
240435998301 rs763237692 0.000 missenseTIle [I]227
contig referenceGSer [S]227
240435999302 rs1318450445 N.D. missenseGArg [R]327
contig referenceCSer [S]327
240436000303 rs768559165 0.000 nonsenseT128
contig referenceALys [K]128
240436001304 rs774472892 0.000 missenseGArg [R]228
contig referenceALys [K]228
240436005308 rs372604158 N.D.byCluster YesmissenseAArg [R]329
synonymousTSer [S]329
contig referenceCSer [S]329
240436006309 rs761864651 0.001byFreq missenseGGly [G]130
missenseTTrp [W]130
contig referenceCArg [R]130
240436007310 rs750409249 0.000 missenseAGln [Q]230
contig referenceGArg [R]230
240436014317 rs369124935 0.000byCluster YesnonsenseA332
synonymousTCys [C]332
contig referenceCCys [C]332
240436016319 rs1192475892 N.D. missenseAAsp [D]233
contig referenceGGly [G]233
240436020323 rs766168260 0.000byFreq synonymousAGlu [E]334
contig referenceGGlu [E]334
240436023326 rs753374550 0.000byFreq synonymousTVal [V]335
contig referenceCVal [V]335
240436024327 rs754647786 0.000 missenseASer [S]136
missenseTCys [C]136
contig referenceCArg [R]136
240436025328 rs867020990 N.D.byCluster missenseAHis [H]236
contig referenceGArg [R]236
240436029332 rs1276340961 N.D. synonymousAGln [Q]337
contig referenceGGln [Q]337
240436030333 rs1014843873 N.D. missenseGVal [V]138
contig referenceAIle [I]138
240436032335 rs778497874 0.000 synonymousAIle [I]338
contig referenceCIle [I]338
240436034337 rs752224141 0.000 missenseGCys [C]239
contig referenceATyr [Y]239
240436039342 rs1437550640 N.D. missenseAThr [T]141
contig referenceGAla [A]141
240436041344 rs1282281449 N.D. synonymousTAla [A]341
contig referenceCAla [A]341
240436043346 rs1225686068 N.D. missenseCThr [T]242
contig referenceALys [K]242
240436044347 rs1202901197 N.D. synonymousALys [K]342
contig referenceGLys [K]342
240436045348 rs1174587390 N.D. missenseASer [S]143
contig referenceGGly [G]143
240436046349 rs867287199 N.D.byCluster missenseTVal [V]243
contig referenceGGly [G]243
240436047350 rs757897938 0.000 synonymousTGly [G]343
contig referenceCGly [G]343
240436053356 rs1392573679 N.D. synonymousTSer [S]345
contig referenceCSer [S]345
240436056359 rs1440362761 N.D. synonymousCLeu [L]346
contig referenceGLeu [L]346
240436058361 rs371651045 0.000byCluster YesmissenseAAsn [N]247
contig referenceGSer [S]247
240436059362 rs1373231624 N.D. synonymousTSer [S]347
contig referenceCSer [S]347
240436060363 rs1432968424 N.D. missenseAAsn [N]148
contig referenceGAsp [D]148
240436062365 rs1338195937 N.D. missenseGGlu [E]348
contig referenceCAsp [D]348
240436063366 rs746411797 0.000 missenseAMet [M]149
missenseCLeu [L]149
missenseTLeu [L]149
contig referenceGVal [V]149
240436065368 rs1308598499 N.D. synonymousAVal [V]349
contig referenceGVal [V]349
240436066369 rs866512789 N.D.byCluster missenseTSer [S]150
contig referenceCPro [P]150
240436070373 rs1332704650 N.D. missenseGArg [R]251
contig referenceAGln [Q]251
240436071374 rs770213911 0.000 missenseCHis [H]351
contig referenceGGln [Q]351
240436077380 rs780575484 0.000 synonymousAGlu [E]353
contig referenceGGlu [E]353
240436080383 rs1376413368 N.D. synonymousAIle [I]354
contig referenceCIle [I]354
240436082385 rs867125093 N.D.byCluster nonsenseA255
contig referenceCSer [S]255
240436083386 rs749670286 0.000 synonymousCSer [S]355
contig referenceGSer [S]355
240459031389 rs755189307 0.000 synonymousCGly [G]356
contig referenceTGly [G]356
240459037395 rs1279789341 N.D. missenseAGln [Q]358
contig referenceCHis [H]358
240459040398 rs1352310255 N.D. synonymousALeu [L]359
synonymousTLeu [L]359
contig referenceGLeu [L]359
240459041399 rs779147625 0.000byFreq missenseTTrp [W]160
contig referenceCArg [R]160
240459042400 rs141069921 0.000byClusterbyFreq YesmissenseAGln [Q]260
missenseTLeu [L]260
contig referenceGArg [R]260
240459043401 rs1228604686 N.D. synonymousTArg [R]360
contig referenceGArg [R]360
240459044402 rs772170454 0.000 missenseGVal [V]161
contig referenceAIle [I]161
240459047405 rs1205554133 N.D. missenseCArg [R]162
contig referenceTCys [C]162
240459048406 rs1248308264 N.D. missenseATyr [Y]262
missenseCSer [S]262
contig referenceGCys [C]262
240459050408 rs1045890481 N.D. missenseTSer [S]163
contig referenceCPro [P]163
240459052410 rs906832572 N.D. synonymousTPro [P]363
contig referenceCPro [P]363
240459056414 rs993582012 N.D. missenseASer [S]165
contig referenceGGly [G]165
240459061419 rs1182171273 N.D. synonymousTTyr [Y]366
contig referenceCTyr [Y]366
240459067425 rs777619540 0.000 synonymousTCys [C]368
contig referenceCCys [C]368
240459069427 rs746932317 0.000 missenseATyr [Y]269
contig referenceGCys [C]269
240459070428 rs1175946431 N.D. synonymousTCys [C]369
contig referenceCCys [C]369
240459073431 rs1049421428 N.D. synonymousTThr [T]370
contig referenceCThr [T]370
240459076434 rs770957501 0.000 synonymousTSer [S]371
contig referenceCSer [S]371
240459077435 rs200321707 0.000byClusterbyFreq YesmissenseALys [K]172
contig referenceGGlu [E]172
240459082440 rs752641990 0.000 -375
240459083441 rs11558615 N.D. YesnonsenseT174
contig referenceGGlu [E]174
240459091449 rs759412147 0.000 missenseGLys [K]376
contig referenceCAsn [N]376
240459092450 rs1392338775 N.D. missenseGVal [V]177
contig referenceCLeu [L]177
240459094452 rs769545270 0.000 synonymousALeu [L]377
contig referenceGLeu [L]377
240459095453 rs1337189168 N.D. missenseAThr [T]178
contig referenceGAla [A]178
240459097455 rs145187710 0.000byFreqWith1000GenomeData0.0002 YessynonymousTAla [A]378
contig referenceCAla [A]378
240459099457 rs1319356253 N.D. missenseGSer [S]279
contig referenceAAsn [N]279
240459101459 rs565369538 0.000With1000GenomeData0.0002 missenseGGly [G]180
missenseTCys [C]180
contig referenceCArg [R]180
240459102460 rs1323695103 N.D. missenseAHis [H]280
contig referenceGArg [R]280
240459103461 rs763705798 0.000 synonymousTArg [R]380
contig referenceCArg [R]380
240459105463 rs750887145 0.000 missenseAAsn [N]281
contig referenceGSer [S]281
240459110468 rs1338622780 N.D. missenseAThr [T]183
missenseTSer [S]183
contig referenceGAla [A]183
240459112470 rs761075854 0.000 synonymousTAla [A]383
contig referenceCAla [A]383
240459113471 rs766978414 0.000byFreq missenseALys [K]184
contig referenceGGlu [E]184
240459118476 rs754121811 0.000 synonymousTLeu [L]385
contig referenceGLeu [L]385
240459119477 rs755385443 0.000 nonsenseT186
contig referenceGGlu [E]186
240459124482 rs779059220 0.000byFreq synonymousAThr [T]387
synonymousGThr [T]387
synonymousTThr [T]387
contig referenceCThr [T]387
240459125483 rs1481468257 N.D. missenseAThr [T]188
contig referenceGAla [A]188
240459126484 rs148564112 0.000byClusterbyFreq YesmissenseTVal [V]288
contig referenceCAla [A]288
240459127485 rs577462540 0.000byFreqWith1000GenomeData0.0002 synonymousAAla [A]388
synonymousCAla [A]388
contig referenceGAla [A]388
240459129487 rs1462904515 N.D. missenseCPro [P]289
contig referenceTLeu [L]289
240459131489 rs541416018 0.000With1000GenomeData0.0002 missenseTTrp [W]190
contig referenceCArg [R]190
240459132490 rs150959912 0.000byClusterbyFreq YesmissenseAGln [Q]290
contig referenceGArg [R]290
240459134492 rs1424406978 N.D. missenseAAsn [N]191
contig referenceGAsp [D]191
240459137495 rs1302158033 N.D. missenseGGly [G]192
contig referenceASer [S]192
240459139497 rs374959028 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTSer [S]392
contig referenceCSer [S]392
240459143501 rs745605287 0.000byFreq missenseTCys [C]194
contig referenceCArg [R]194
240459144502 rs140790256 0.000byClusterbyFreqWith1000GenomeData0.0008 YesmissenseAHis [H]294
contig referenceGArg [R]294
240459145503 rs549235302 0.000byFreqWith1000GenomeData0.0002 synonymousTArg [R]394
contig referenceCArg [R]394
240459146504 rs146749086 0.000byClusterbyFreq YesmissenseAIle [I]195
contig referenceGVal [V]195
240459149507 rs1460220107 N.D. synonymousTLeu [L]196
contig referenceCLeu [L]196
240459153511 rs1271851359 N.D. missenseCPro [P]297
contig referenceAGln [Q]297
240459154512 rs1357087382 N.D. synonymousAGln [Q]397
contig referenceGGln [Q]397
240459158516 rs1255774194 N.D. missenseCLeu [L]199
contig referenceAMet [M]199
240459159517 rs6717362 0.000byClusterbyFreq YesmissenseCThr [T]299
contig referenceTMet [M]299
240459160518 rs1170782391 N.D. missenseTIle [I]399
contig referenceGMet [M]399
240459161519 rs138434031 0.000byClusterbyFreq YesmissenseTPhe [F]1100
contig referenceCLeu [L]1100
240459164522 rs761428803 0.000 missenseAThr [T]1101
contig referenceGAla [A]1101
240459168526 rs970762280 N.D. missenseTIle [I]2102
contig referenceCThr [T]2102
240459174532 rs1485646195 N.D. missenseCPro [P]2104
contig referenceTLeu [L]2104
240459175533 rs1203496578 N.D. synonymousALeu [L]3104
contig referenceGLeu [L]3104
240459176534 rs766775254 0.000 missenseASer [S]1105
missenseTCys [C]1105
contig referenceCArg [R]1105
240459177535 rs373974894 0.000byClusterbyFreq YesmissenseAHis [H]2105
contig referenceGArg [R]2105
240459178536 rs1479827780 N.D. synonymousTArg [R]3105
contig referenceCArg [R]3105
240459179537 rs1156863880 N.D. missenseGGly [G]1106
contig referenceASer [S]1106
240459181539 rs759828837 0.000 missenseGArg [R]3106
synonymousTSer [S]3106
contig referenceCSer [S]3106
240459183541 rs377640716 0.000byCluster YesmissenseATyr [Y]2107
contig referenceTPhe [F]2107
240459184542 rs1219547806 N.D. synonymousTPhe [F]3107
contig referenceCPhe [F]3107
240459185543 rs1054217438 N.D. missenseAAsn [N]1108
contig referenceGAsp [D]1108
240459188546 rs1435576017 N.D. missenseAAsn [N]1109
contig referenceGAsp [D]1109
240462192548 rs1340608186 N.D. missenseGGlu [E]3109
contig referenceCAsp [D]3109
240462198554 rs1224136414 N.D. synonymousTPhe [F]3111
contig referenceCPhe [F]3111
240462199555 rs1281355244 N.D. missenseGGlu [E]1112
contig referenceCGln [Q]1112
240462200556 rs767700600 0.000byFreq missenseGArg [R]2112
missenseTLeu [L]2112
contig referenceAGln [Q]2112
240462201557 rs760887895 0.000 synonymousAGln [Q]3112
contig referenceGGln [Q]3112
240462202558 rs1252306541 N.D. missenseTTyr [Y]1113
contig referenceCHis [H]1113
240462204560 rs539844753 0.000With1000GenomeData0.0002 synonymousTHis [H]3113
contig referenceCHis [H]3113
240462206562 rs1481807566 N.D. missenseGArg [R]2114
contig referenceTLeu [L]2114
240462210566 rs147253304 0.001byClusterbyFreqWith1000GenomeData0.0006 YessynonymousALeu [L]3115
contig referenceGLeu [L]3115
240462213569 rs374492921 0.000byClusterbyFreq YessynonymousTAsn [N]3116
contig referenceCAsn [N]3116
240462214570 rs376569826 0.000byClusterbyFreqWith1000GenomeData0.0010 YesmissenseAAsn [N]1117
contig referenceGAsp [D]1117
240462218574 rs1199454297 N.D. missenseTLeu [L]2118
contig referenceCSer [S]2118
240462219575 rs778755779 0.000byFreq synonymousASer [S]3118
contig referenceGSer [S]3118
240462223579 rs752501624 0.000byFreq missenseTTrp [W]1120
contig referenceCArg [R]1120
240462224580 rs368981259 0.000byClusterbyFreq YesmissenseAGln [Q]2120
contig referenceGArg [R]2120
240462227583 rs139334776 0.000byClusterWith1000GenomeData0.0002 YesmissenseALys [K]2121
missenseTMet [M]2121
contig referenceCThr [T]2121
240462228584 rs150910728 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAThr [T]3121
contig referenceGThr [T]3121
240462235591 rs1301098664 N.D. missenseAThr [T]1124
contig referenceGAla [A]1124
240462236592 rs1301537819 N.D. missenseTVal [V]2124
contig referenceCAla [A]2124
240462237593 rs770457512 0.000byFreq synonymousAAla [A]3124
synonymousGAla [A]3124
contig referenceCAla [A]3124
240462238594 rs780468702 0.000 missenseGAla [A]1125
contig referenceAThr [T]1125
240462242598 rs200792251 0.000byClusterbyFreqWith1000GenomeData0.0006 YesmissenseGCys [C]2126
contig referenceTPhe [F]2126
240462243599 rs769105121 0.000byFreq missenseGLeu [L]3126
contig referenceCPhe [F]3126
240462244600 rs150046174 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTSer [S]1127
contig referenceCPro [P]1127
240462245601 rs762128244 0.000 missenseAHis [H]2127
missenseTLeu [L]2127
contig referenceCPro [P]2127
240462246602 rs61737161 0.007byClusterbyFreqWith1000GenomeData0.0102 YessynonymousTPro [P]3127
contig referenceCPro [P]3127
240462247603 rs373679176 0.000byClusterbyFreq YesmissenseASer [S]1128
contig referenceGGly [G]1128
240462249605 rs760797736 0.000byFreq synonymousTGly [G]3128
contig referenceCGly [G]3128
240462250606 rs766572117 0.000 missenseAThr [T]1129
contig referenceGAla [A]1129
240462255611 rs1004812451 N.D. missenseALeu [L]3130
synonymousTPhe [F]3130
contig referenceCPhe [F]3130
240462256612 rs34976040 0.041byClusterbyFreqWith1000GenomeData0.0102 YesmissenseAArg [R]1131
contig referenceGGly [G]1131
240462259615 rs1288311863 N.D. missenseALys [K]1132
contig referenceGGlu [E]1132
240462261617 rs1474137904 N.D. synonymousAGlu [E]3132
contig referenceGGlu [E]3132
240462262618 rs759512286 0.000 synonymousTLeu [L]1133
contig referenceCLeu [L]1133
240462263619 rs765125763 0.000 missenseCPro [P]2133
contig referenceTLeu [L]2133
240462264620 rs752512645 0.000byFreq synonymousALeu [L]3133
contig referenceGLeu [L]3133
240462267623 rs1161398838 N.D. synonymousTTyr [Y]3134
contig referenceCTyr [Y]3134
240462269625 rs758147245 0.000 missenseALys [K]2135
missenseTMet [M]2135
contig referenceCThr [T]2135
240462270626 rs777362324 0.000byClusterbyFreq synonymousAThr [T]3135
contig referenceGThr [T]3135
240462271627 rs1325740957 N.D. nonsenseT1136
contig referenceCGln [Q]1136
240462276632 rs377223030 0.000byClusterbyFreq YesmissenseALys [K]3137
synonymousTAsn [N]3137
contig referenceCAsn [N]3137
240462277633 rs780671031 0.000byFreq missenseAThr [T]1138
missenseTSer [S]1138
contig referenceGAla [A]1138
240462278634 rs745441085 0.000byFreq missenseTVal [V]2138
contig referenceCAla [A]2138
240462279635 rs190580810 0.004byClusterbyFreqWith1000GenomeData0.0006 YessynonymousAAla [A]3138
contig referenceGAla [A]3138
240462289645 rs567614307 0.000With1000GenomeData0.0002 missenseTTrp [W]1142
contig referenceCArg [R]1142
240462290646 rs140826218 0.001byClusterbyFreq YesmissenseAGln [Q]2142
contig referenceGArg [R]2142
240462291647 rs1360575044 N.D. synonymousAArg [R]3142
contig referenceGArg [R]3142
240462292648 rs531757424 0.000byFreqWith1000GenomeData0.0002 missenseTTyr [Y]1143
contig referenceGAsp [D]1143
240462295651 rs773502191 0.000byFreq missenseGVal [V]1144
contig referenceCLeu [L]1144
240462296652 rs912658749 N.D. missenseCPro [P]2144
contig referenceTLeu [L]2144
240462302658 rs1266551829 N.D. missenseTLeu [L]2146
contig referenceCSer [S]2146
240462303659 rs1444791518 N.D. synonymousGSer [S]3146
contig referenceASer [S]3146
240462305661 rs1198342615 N.D. missenseCAla [A]2147
contig referenceAGlu [E]2147
240462307663 rs747249557 0.000 synonymousTLeu [L]1148
contig referenceCLeu [L]1148
240462310666 rs771344419 0.000byFreq missenseTCys [C]1149
contig referenceCArg [R]1149
240462311667 rs138375141 0.002byClusterbyFreqWith1000GenomeData0.0020 YesmissenseAHis [H]2149
contig referenceGArg [R]2149
240462312668 rs925435084 N.D. synonymousTArg [R]3149
contig referenceCArg [R]3149
240462313669 rs1365875238 N.D. synonymousTLeu [L]1150
contig referenceCLeu [L]1150
240462315671 rs759583982 0.000byFreq synonymousALeu [L]3150
contig referenceGLeu [L]3150
240462318674 rs1384426238 N.D. synonymousTTyr [Y]3151
contig referenceCTyr [Y]3151
240462320676 rs765171565 0.000 missenseCSer [S]2152
contig referenceATyr [Y]2152
240462321677 rs1165282779 N.D. synonymousTTyr [Y]3152
contig referenceCTyr [Y]3152
240462322678 rs775317338 0.000byFreq missenseTCys [C]1153
contig referenceCArg [R]1153
240462323679 rs762664665 0.000byFreq missenseAHis [H]2153
contig referenceGArg [R]2153
240462324680 rs1042829 0.330byClusterbyFreqWith1000GenomeData0.1518 YessynonymousTArg [R]3153
contig referenceCArg [R]3153
240462325681 rs751410321 0.000byFreq missenseASer [S]1154
contig referenceGGly [G]1154
240462327683 rs1451140872 N.D. synonymousCGly [G]3154
contig referenceTGly [G]3154
240462329685 rs756901454 0.000 missenseAAsp [D]2155
missenseGGly [G]2155
missenseTVal [V]2155
contig referenceCAla [A]2155
240462332688 rs767200019 0.000 missenseGSer [S]2156
missenseTIle [I]2156
contig referenceAAsn [N]2156
240462333689 rs1226264148 N.D. frame shift-Cys [C]3157
contig referenceCLeu [L]3157
240462335691 rs916689582 N.D. missenseCPro [P]2157
contig referenceTLeu [L]2157
240462339695 rs1285597576 N.D. missenseGGln [Q]3158
contig referenceCHis [H]3158
240462343699 rs373543083 0.000byCluster YesmissenseALys [K]1160
contig referenceGGlu [E]1160
240462345701 rs949351241 N.D. synonymousAGlu [E]3160
contig referenceGGlu [E]3160
240462350706 rs755605052 0.000 missenseTMet [M]2162
contig referenceCThr [T]2162
240462351707 rs779436468 0.000 synonymousAThr [T]3162
contig referenceGThr [T]3162
240462357713 rs748610232 0.000byFreq synonymousGAla [A]3164
synonymousTAla [A]3164
contig referenceCAla [A]3164
240462358714 rs778276295 0.000 missenseALys [K]1165
contig referenceGGlu [E]1165
240462359715 rs1045466307 N.D. missenseTVal [V]2165
contig referenceAGlu [E]2165
240462360716 rs929868503 N.D. synonymousAGlu [E]3165
contig referenceGGlu [E]3165
240462363719 rs747417125 0.000 missenseGLeu [L]3166
contig referenceCPhe [F]3166
240462364720 rs1189284008 N.D. missenseCArg [R]1167
contig referenceTTrp [W]1167
240462365721 rs1231428914 N.D. missenseTLeu [L]2167
contig referenceGTrp [W]2167
240462368724 rs199566765 0.000byClusterbyFreqWith1000GenomeData0.0008 YesmissenseTVal [V]2168
contig referenceCAla [A]2168
240462369725 rs776740793 0.000 synonymousTAla [A]3168
contig referenceCAla [A]3168
240462370726 rs745917449 0.001byClusterbyFreq missenseTCys [C]1169
contig referenceCArg [R]1169
240462371727 rs557977354 0.000With1000GenomeData0.0002 missenseAHis [H]2169
contig referenceGArg [R]2169
240462372728 rs775437514 0.000 synonymousGArg [R]3169
contig referenceCArg [R]3169
240462373729 rs1407394489 N.D. synonymousTLeu [L]1170
contig referenceCLeu [L]1170
240462378734 rs758327824 0.000byFreq synonymousGLeu [L]3171
synonymousTLeu [L]3171
contig referenceCLeu [L]3171
240462379735 rs376762179 0.000byClusterbyFreq YesmissenseALys [K]1172
contig referenceGGlu [E]1172
240462381737 rs1335526671 N.D. synonymousAGlu [E]3172
contig referenceGGlu [E]3172
240462382738 rs149353022 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTCys [C]1173
contig referenceCArg [R]1173
240462383739 rs767152299 0.000byFreq missenseAHis [H]2173
contig referenceGArg [R]2173
240462393749 rs1351865269 N.D. missenseTAsn [N]3176
contig referenceGLys [K]3176
240462394750 rs1221095811 N.D. missenseALys [K]1177
contig referenceCGln [Q]1177
240462396752 rs1170101105 N.D. synonymousAGln [Q]3177
contig referenceGGln [Q]3177
240462402758 rs750075513 0.000 missenseGGln [Q]3179
contig referenceCHis [H]3179
240462403759 rs755584235 0.000byFreq missenseTSer [S]1180
contig referenceCPro [P]1180
240462404760 rs765822451 0.000 missenseTLeu [L]2180
contig referenceCPro [P]2180
240462405761 rs1270666884 N.D. synonymousGPro [P]3180
contig referenceCPro [P]3180
240462408764 rs1390194276 N.D. missenseCHis [H]3181
contig referenceGGln [Q]3181
240462409765 rs1437010194 N.D. synonymousTLeu [L]1182
contig referenceCLeu [L]1182
240462414770 rs1183235369 N.D. synonymousALeu [L]3183
contig referenceGLeu [L]3183
240462416772 rs1254174762 N.D. missenseAGln [Q]2184
contig referenceTLeu [L]2184
240462419775 rs1479499366 N.D. missenseGArg [R]2185
missenseTLeu [L]2185
contig referenceCPro [P]2185
240462421777 rs533921420 0.000byFreqWith1000GenomeData0.0004 missenseAAsn [N]1186
contig referenceGAsp [D]1186
240462426782 rs758940537 0.000byFreq missenseGGlu [E]3187
contig referenceCAsp [D]3187
240462429785 rs1479319030 N.D. synonymousTTyr [Y]3188
contig referenceCTyr [Y]3188
240462430786 rs778470385 0.000 synonymousTLeu [L]1189
contig referenceCLeu [L]1189
240462432788 rs1396314288 N.D. synonymousALeu [L]3189
contig referenceGLeu [L]3189
240462436792 rs747329122 0.000 missenseCArg [R]1191
contig referenceTCys [C]1191
240462440796 rs1028560427 N.D. missenseCPro [P]2192
contig referenceTLeu [L]2192
240462441797 rs757727485 0.000byFreq synonymousALeu [L]3192
contig referenceGLeu [L]3192
240462442798 rs1402597617 N.D. missenseASer [S]1193
contig referenceGGly [G]1193
240462450806 rs1282038727 N.D. synonymousAGln [Q]3195
contig referenceGGln [Q]3195
240462451807 rs781404122 0.000 missenseAThr [T]1196
contig referenceGAla [A]1196
240462452808 rs1235407824 N.D. missenseTVal [V]2196
contig referenceCAla [A]2196
240462453809 rs766261701 0.000byFreq synonymousAAla [A]3196
synonymousTAla [A]3196
contig referenceCAla [A]3196
240462454810 rs371366522 0.000byCluster YesmissenseALys [K]1197
missenseCGln [Q]1197
contig referenceGGlu [E]1197
240462455811 rs1338516298 N.D. missenseCAla [A]2197
contig referenceAGlu [E]2197
240462458814 rs200136097 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGGly [G]2198
missenseTVal [V]2198
contig referenceCAla [A]2198
240462459815 rs113918163 0.000byFreq YessynonymousAAla [A]3198
synonymousCAla [A]3198
contig referenceGAla [A]3198
240462461817 rs768560597 0.000byFreq missenseAGln [Q]2199
missenseCPro [P]2199
contig referenceTLeu [L]2199
240462462818 rs1221997791 N.D. synonymousALeu [L]3199
contig referenceGLeu [L]3199
240462463819 rs367668614 0.000byCluster YesmissenseGGly [G]1200
missenseTTrp [W]1200
contig referenceCArg [R]1200
240462464820 rs761559309 0.000byFreq missenseAGln [Q]2200
contig referenceGArg [R]2200
240462466822 rs35343906 N.D. Yesframe shift-Ser [S]1202
contig referenceCPhe [F]1202
240462466822 rs573255400 0.000With1000GenomeData0.0002 missenseTSer [S]1201
contig referenceCPro [P]1201
240462467823 rs771768673 0.000 missenseGArg [R]2201
contig referenceCPro [P]2201
240462470826 rs1450488798 N.D. missenseATyr [Y]2202
contig referenceTPhe [F]2202
240462471827 rs137900628 0.001byClusterbyFreqWith1000GenomeData0.0008 YessynonymousTPhe [F]3202
contig referenceCPhe [F]3202
240462472828 rs373944004 0.000byClusterbyFreq YesmissenseAArg [R]1203
missenseTTrp [W]1203
contig referenceGGly [G]1203
240462473829 rs766094729 0.000 missenseAGlu [E]2203
missenseCAla [A]2203
contig referenceGGly [G]2203
240462475831 rs753373734 0.000 missenseALys [K]1204
contig referenceGGlu [E]1204
240462476832 rs759138727 0.000byFreq missenseTVal [V]2204
contig referenceAGlu [E]2204
240462478834 rs764654974 0.000 missenseCPro [P]1205
missenseTSer [S]1205
contig referenceGAla [A]1205
240462479835 rs367907059 0.000byClusterWith1000GenomeData0.0002 YesmissenseGGly [G]2205
missenseTVal [V]2205
contig referenceCAla [A]2205
240462480836 rs566968035 N.D. synonymousTAla [A]3205
contig referenceCAla [A]3205
240462481837 rs982192720 N.D. missenseAThr [T]1206
contig referenceCPro [P]1206
240462482838 rs371738379 0.000byClusterbyFreq YesmissenseTLeu [L]2206
contig referenceCPro [P]2206
240462483839 rs748363621 0.000byFreq synonymousAPro [P]3206
synonymousTPro [P]3206
contig referenceGPro [P]3206
240462489845 rs1356968755 N.D. missenseCAsp [D]3208
contig referenceGGlu [E]3208
240462491847 rs781394708 0.000 missenseCPro [P]2209
contig referenceTLeu [L]2209
240462493849 rs200794161 0.001byClusterbyFreq YesmissenseTCys [C]1210
contig referenceCArg [R]1210
240462494850 rs756261804 0.000byFreq missenseAHis [H]2210
contig referenceGArg [R]2210
240462495851 rs578028636 0.000byFreqWith1000GenomeData0.0002 synonymousTArg [R]3210
contig referenceCArg [R]3210
240462497853 rs749322077 0.000byFreq missenseCPro [P]2211
contig referenceTLeu [L]2211
240462499855 rs768758570 0.000byFreq missenseTTrp [W]1212
contig referenceCArg [R]1212
240462500856 rs545177373 0.000byFreqWith1000GenomeData0.0002 missenseAGln [Q]2212
contig referenceGArg [R]2212
240462508864 rs748090900 0.000byFreq missenseGGly [G]1215
missenseTCys [C]1215
contig referenceCArg [R]1215
240462509865 rs143813409 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAHis [H]2215
contig referenceGArg [R]2215
240462511867 rs772879558 0.000 missenseAThr [T]1216
contig referenceGAla [A]1216
240462516872 rs760566279 0.000byFreq synonymousTPhe [F]3217
contig referenceCPhe [F]3217
240462517873 rs368146643 0.000byClusterbyFreq YesmissenseAMet [M]1218
contig referenceGVal [V]1218
240462519875 rs757380579 0.000 frame shift-Leu [L]3219
contig referenceGAla [A]3219
240462525881 rs376321914 0.000byClusterbyFreq YessynonymousGAla [A]3220
contig referenceTAla [A]3220
240462526882 rs368508405 0.000byClusterbyFreq YesmissenseTCys [C]1221
contig referenceCArg [R]1221
240462527883 rs764849163 0.000byFreq missenseAHis [H]2221
missenseTLeu [L]2221
contig referenceGArg [R]2221
240462537893 rs371571157 N.D. YessynonymousAVal [V]3224
contig referenceGVal [V]3224
240462539895 rs1380385954 N.D. missenseGArg [R]2225
contig referenceAGln [Q]2225
240462540896 rs1395181846 N.D. missenseCHis [H]3225
contig referenceGGln [Q]3225
240462542898 rs200763451 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTVal [V]2226
contig referenceGGly [G]2226
240462543899 rs1323691536 N.D. synonymousTGly [G]3226
contig referenceCGly [G]3226
240462546902 rs768107056 0.000 synonymousALeu [L]3227
contig referenceGLeu [L]3227
240462547903 rs1050005530 N.D. missenseASer [S]1228
contig referenceGGly [G]1228
240462548904 rs1260272917 N.D. missenseTVal [V]2228
contig referenceGGly [G]2228
240462549905 rs750734305 0.000byFreq synonymousTGly [G]3228
contig referenceCGly [G]3228
240462550906 rs756526794 0.000 missenseAMet [M]1229
contig referenceGVal [V]1229
240462556912 rs766552257 0.000 missenseGGly [G]1231
contig referenceASer [S]1231
240462558914 rs754067522 0.000 missenseAArg [R]3231
synonymousTSer [S]3231
contig referenceCSer [S]3231
240462559915 rs543077300 0.000byFreqWith1000GenomeData0.0004 missenseAAsn [N]1232
contig referenceGAsp [D]1232
240462561917 rs372723073 0.000byClusterbyFreq YessynonymousTAsp [D]3232
contig referenceCAsp [D]3232
240462562918 rs748327513 0.000 missenseAMet [M]1233
contig referenceGVal [V]1233
240462565921 rs1179185848 N.D. missenseAIle [I]1234
contig referenceGVal [V]1234
240462568924 rs758245230 0.000 missenseTTrp [W]1235
contig referenceCArg [R]1235
240462569925 rs146133433 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAGln [Q]2235
contig referenceGArg [R]2235
240462570926 rs1161302348 N.D. synonymousCArg [R]3235
contig referenceGArg [R]3235
240462572928 rs1409113887 N.D. missenseCThr [T]2236
contig referenceALys [K]2236
240462578934 rs1350909339 N.D. missenseTVal [V]2238
contig referenceCAla [A]2238
240462581937 rs746740324 0.000byFreq missenseCPro [P]2239
missenseGArg [R]2239
contig referenceAGln [Q]2239
240463349941 rs373103881 0.000byCluster YessynonymousAVal [V]3240
synonymousTVal [V]3240
contig referenceCVal [V]3240
240463353945 rs1431903285 N.D. synonymousTLeu [L]1242
contig referenceCLeu [L]1242
240463358950 rs1326767685 N.D. synonymousAGly [G]3243
synonymousTGly [G]3243
contig referenceCGly [G]3243
240463360952 rs757226932 0.000byFreq missenseTLeu [L]2244
contig referenceCPro [P]2244
240463361953 rs781325624 0.000byFreq synonymousAPro [P]3244
contig referenceGPro [P]3244
240463362954 rs750197128 0.000 missenseCGln [Q]1245
contig referenceGGlu [E]1245
240463369961 rs756008122 0.000 missenseTLeu [L]2247
contig referenceCSer [S]2247
240463370962 rs377724787 0.000byClusterbyFreq YessynonymousASer [S]3247
synonymousCSer [S]3247
contig referenceGSer [S]3247
240463373965 rs1284496421 N.D. synonymousGArg [R]3248
contig referenceAArg [R]3248
240463375967 rs368952537 0.000byClusterbyFreq YesmissenseTVal [V]2249
contig referenceCAla [A]2249
240463378970 rs768250954 0.000 missenseGGly [G]2250
contig referenceTVal [V]2250
240463385977 rs1344722823 N.D. synonymousALys [K]3252
contig referenceGLys [K]3252
240463388980 rs778482141 0.000byFreq synonymousALeu [L]3253
synonymousCLeu [L]3253
contig referenceGLeu [L]3253
240463398990 rs1287228731 N.D. missenseAThr [T]1257
contig referenceGAla [A]1257
240463403995 rs559097315 0.000With1000GenomeData0.0002 synonymousTHis [H]3258
contig referenceCHis [H]3258
240463407999 rs771408100 0.000 missenseGVal [V]1260
synonymousTLeu [L]1260
contig referenceCLeu [L]1260
2404634091001 rs566181546 N.D.byCluster synonymousALeu [L]3260
synonymousCLeu [L]3260
synonymousTLeu [L]3260
contig referenceGLeu [L]3260
2404634121004 rs1208014963 N.D. synonymousGGly [G]3261
contig referenceAGly [G]3261
2404634151007 rs140137064 0.000byCluster YessynonymousTVal [V]3262
contig referenceCVal [V]3262
2404634161008 rs759827573 0.000 missenseGAla [A]1263
contig referenceCPro [P]1263
2404634181010 rs373073194 0.000byCluster YessynonymousTPro [P]3263
contig referenceCPro [P]3263
2404634191011 rs150681136 0.054byClusterbyFreqWith1000GenomeData0.0282 YesmissenseASer [S]1264
contig referenceGGly [G]1264
2404634211013 rs990030265 N.D. synonymousTGly [G]3264
contig referenceCGly [G]3264
2404634221014 rs763227743 0.000byFreq missenseAThr [T]1265
contig referenceGAla [A]1265
2404634231015 rs1406059618 N.D. missenseTVal [V]2265
contig referenceCAla [A]2265
2404634241016 rs1166943738 N.D. synonymousGAla [A]3265
contig referenceCAla [A]3265
2404634281020 rs1343488828 N.D. missenseGAla [A]1267
contig referenceCPro [P]1267
2404634301022 rs969837448 N.D. synonymousTPro [P]3267
contig referenceCPro [P]3267
2404634331025 rs1018432306 N.D. synonymousTCys [C]3268
contig referenceCCys [C]3268
2404634341026 rs764259330 0.000byFreq missenseTSer [S]1269
contig referenceCPro [P]1269
2404634351027 rs751633892 0.000 missenseTLeu [L]2269
contig referenceCPro [P]2269
2404634361028 rs762004209 0.000byFreq synonymousCPro [P]3269
contig referenceTPro [P]3269
2404634381030 rs767525427 0.000 missenseTVal [V]2270
contig referenceAAsp [D]2270
2404634391031 rs1319150717 N.D. missenseGGlu [E]3270
contig referenceCAsp [D]3270
2404634401032 rs1457114524 N.D. missenseAAsn [N]1271
contig referenceTTyr [Y]1271
2404634471039 rs750393410 0.000 missenseAGln [Q]2273
contig referenceGArg [R]2273
2404634521044 rs928251059 N.D. missenseCLeu [L]1275
contig referenceGVal [V]1275
2404634631055 rs755918388 0.000byFreq synonymousGGly [G]3278
synonymousTGly [G]3278
contig referenceCGly [G]3278
2404634671059 rs779890557 0.000byFreq missenseTPhe [F]1280
contig referenceCLeu [L]1280
2404634761068 rs149889796 0.000byClusterbyFreq YesmissenseGGlu [E]1283
contig referenceCGln [Q]1283
2404634781070 rs377213489 0.000byClusterbyFreq YessynonymousAGln [Q]3283
contig referenceGGln [Q]3283
2404634791071 rs778481253 0.000 missenseAThr [T]1284
contig referenceGAla [A]1284
2404634811073 rs370369714 0.000byCluster YessynonymousGAla [A]3284
synonymousTAla [A]3284
contig referenceCAla [A]3284
2404634821074 rs771573745 0.000byFreq missenseAAsn [N]1285
missenseCHis [H]1285
contig referenceGAsp [D]1285
2404634861078 rs1185093494 N.D. missenseCPro [P]2286
contig referenceTLeu [L]2286
2404634871079 rs375213101 0.000byClusterbyFreq YessynonymousALeu [L]3286
contig referenceGLeu [L]3286
2404634881080 rs746361353 0.000 missenseAAsn [N]1287
contig referenceGAsp [D]1287
2404634901082 rs555091554 0.000byClusterbyFreq synonymousTAsp [D]3287
contig referenceCAsp [D]3287
2404634911083 rs144394036 0.000byClusterbyFreq YesmissenseAThr [T]1288
missenseTSer [S]1288
contig referenceGAla [A]1288
2404634931085 rs141356183 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGAla [A]3288
synonymousTAla [A]3288
contig referenceCAla [A]3288
2404634941086 rs1045079917 N.D. missenseALys [K]1289
contig referenceGGlu [E]1289
2404635021094 rs1287619511 N.D. synonymousAArg [R]3291
contig referenceGArg [R]3291
2404635051097 rs1160553844 N.D. missenseGLys [K]3292
contig referenceCAsn [N]3292
2404635111103 rs768871599 0.000 synonymousTLeu [L]3294
contig referenceGLeu [L]3294
2404646171106 rs1341183483 N.D. synonymousTAsp [D]3295
contig referenceCAsp [D]3295
2404646181107 rs1276224037 N.D. missenseCPro [P]1296
contig referenceTSer [S]1296
2404646211110 rs747074689 0.000 missenseGVal [V]1297
contig referenceAMet [M]1297
2404646271116 rs770926455 0.000 missenseTPhe [F]1299
contig referenceCLeu [L]1299
2404646321121 rs776827653 0.000 synonymousTIle [I]3300
contig referenceCIle [I]3300
2404646351124 rs146467719 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTThr [T]3301
contig referenceCThr [T]3301
2404646361125 rs550678562 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]1302
contig referenceGAsp [D]1302
2404646401129 rs775242484 0.000 missenseGArg [R]2303
contig referenceALys [K]2303
2404646411130 rs141626394 0.003byClusterbyFreqWith1000GenomeData0.0004 YesmissenseCAsn [N]3303
synonymousALys [K]3303
contig referenceGLys [K]3303
2404646421131 rs1271774022 N.D. missenseGVal [V]1304
contig referenceTPhe [F]1304
2404646451134 rs763695116 0.000 missenseGGly [G]1305
contig referenceTTrp [W]1305
2404646471136 rs1380953882 N.D. missenseCCys [C]3305
contig referenceGTrp [W]3305
2404646481137 rs1450472801 N.D. missenseCArg [R]1306
contig referenceGGly [G]1306
2404646491138 rs751174172 0.000 missenseAAsp [D]2306
contig referenceGGly [G]2306
2404646501139 rs1010338215 N.D. synonymousCGly [G]3306
contig referenceTGly [G]3306
2404646531142 rs761330859 0.000byFreq synonymousGThr [T]3307
synonymousTThr [T]3307
contig referenceAThr [T]3307
2404646551144 rs138318645 0.000byClusterbyFreq YesmissenseTLeu [L]2308
contig referenceCSer [S]2308
2404646561145 rs755408412 0.000byFreq synonymousASer [S]3308
synonymousTSer [S]3308
contig referenceGSer [S]3308
2404646591148 rs779616004 0.000 synonymousGGly [G]3309
contig referenceTGly [G]3309
2404646601149 rs753065473 0.000 missenseAMet [M]1310
contig referenceGVal [V]1310
2404646641153 rs758867862 0.000 missenseTVal [V]2311
contig referenceAGlu [E]2311
2404646671156 rs778077573 0.000 missenseAAsn [N]2312
contig referenceGSer [S]2312
2404646681157 rs1435472054 N.D. missenseGArg [R]3312
contig referenceTSer [S]3312
2404646691158 rs1300124728 N.D. missenseAIle [I]1313
contig referenceGVal [V]1313
2404646721161 rs1338883490 N.D. missenseGVal [V]1314
contig referenceAIle [I]1314
2404646741163 rs765861084 N.D.byCluster synonymousTIle [I]3314
contig referenceCIle [I]3314
2404646751164 rs747183495 0.000 missenseASer [S]1315
contig referenceGGly [G]1315
2404646761165 rs771247903 0.000byFreq missenseAAsp [D]2315
contig referenceGGly [G]2315
2404646771166 rs372335591 0.000byClusterbyFreq YessynonymousGGly [G]3315
contig referenceCGly [G]3315
2404646811170 rs200045063 0.000byClusterbyFreq YesmissenseAMet [M]1317
missenseCLeu [L]1317
contig referenceGVal [V]1317
2404646831172 rs775436823 0.000 synonymousAVal [V]3317
synonymousCVal [V]3317
contig referenceGVal [V]3317
2404646851174 rs1231409000 N.D. missenseGArg [R]2318
contig referenceAHis [H]2318
2404646861175 rs1190850775 N.D. synonymousTHis [H]3318
contig referenceCHis [H]3318
2404646881177 rs536435940 0.000byClusterbyFreq missenseTMet [M]2319
contig referenceCThr [T]2319
2404646891178 rs768455587 0.000byFreq synonymousAThr [T]3319
synonymousCThr [T]3319
synonymousTThr [T]3319
contig referenceGThr [T]3319
2404646931182 rs761368164 0.000byFreq synonymousTLeu [L]1321
contig referenceCLeu [L]1321
2404646971186 rs138916099 0.001byClusterbyFreq YesmissenseAGlu [E]2322
missenseGGly [G]2322
missenseTVal [V]2322
contig referenceCAla [A]2322
2404646981187 rs201081083 0.000byClusterbyFreq YessynonymousAAla [A]3322
synonymousCAla [A]3322
contig referenceGAla [A]3322
2404647001189 rs759030166 0.000byFreq missenseGGly [G]2323
contig referenceAGlu [E]2323
2404647021191 rs1024607838 N.D. missenseAThr [T]1324
contig referenceGAla [A]1324
2404647041193 rs1361389324 N.D. synonymousTAla [A]3324
contig referenceCAla [A]3324
2404647091198 rs201247940 0.000byClusterWith1000GenomeData0.0002 YesmissenseGSer [S]2326
contig referenceAAsn [N]2326
2404647101199 rs950413778 N.D. synonymousTAsn [N]3326
contig referenceCAsn [N]3326
2404647111200 rs751991629 0.000byFreq missenseAThr [T]1327
contig referenceGAla [A]1327
2404647121201 rs911643531 N.D. missenseTVal [V]2327
contig referenceCAla [A]2327
2404647131202 rs757394543 0.000byFreq synonymousAAla [A]3327
synonymousTAla [A]3327
contig referenceCAla [A]3327
2404647141203 rs781499688 0.000 missenseTPhe [F]1328
contig referenceCLeu [L]1328
2404647161205 rs1478887042 N.D. synonymousALeu [L]3328
contig referenceCLeu [L]3328
2404647171206 rs1395724150 N.D. nonsenseT1329
contig referenceCGln [Q]1329
2404647191208 rs1313698490 N.D. missenseCHis [H]3329
missenseTHis [H]3329
contig referenceGGln [Q]3329
2404647241213 rs908999792 N.D. missenseGSer [S]2331
contig referenceAAsn [N]2331
2404647311220 rs1357449405 N.D. synonymousTAsp [D]3333
contig referenceCAsp [D]3333
2404647331222 rs745894598 0.001byClusterbyFreq missenseTMet [M]2334
contig referenceCThr [T]2334
2404647341223 rs145844897 0.005byClusterbyFreqWith1000GenomeData0.0058 YessynonymousAThr [T]3334
contig referenceGThr [T]3334
2404647371226 rs779906268 0.000byFreq synonymousTLeu [L]3335
contig referenceCLeu [L]3335
2404647391228 rs570771236 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]2336
missenseTMet [M]2336
contig referenceCThr [T]2336
2404647401229 rs369821544 0.000byCluster YessynonymousAThr [T]3336
contig referenceGThr [T]3336
2404647411230 rs748024870 0.000 missenseTSer [S]1337
contig referenceGAla [A]1337
2404647431232 rs771580254 0.000 synonymousTAla [A]3337
contig referenceCAla [A]3337
2404647451234 rs1256354514 N.D. missenseGArg [R]2338
contig referenceALys [K]2338
2404648561236 rs1349350685 N.D. missenseAIle [I]1339
contig referenceGVal [V]1339
2404648581238 rs1458917346 N.D. synonymousTVal [V]3339
contig referenceCVal [V]3339
2404648631243 rs1198501588 N.D. missenseCPro [P]2341
contig referenceAGln [Q]2341
2404648651245 rs1319070935 N.D. missenseASer [S]1342
contig referenceGGly [G]1342
2404648701250 rs867054183 N.D.byCluster nonsenseA3343
synonymousTCys [C]3343
contig referenceCCys [C]3343
2404648711251 rs540457331 0.000byClusterWith1000GenomeData0.0002 missenseAArg [R]1344
contig referenceGGly [G]1344
2404648721252 rs1434750454 N.D. missenseAGlu [E]2344
contig referenceGGly [G]2344
2404648761256 rs1296440771 N.D. missenseGLys [K]3345
contig referenceCAsn [N]3345
2404648781258 rs1362170250 N.D. missenseGArg [R]2346
contig referenceCPro [P]2346
2404648801260 rs756298992 0.000 missenseGGlu [E]1347
contig referenceALys [K]1347
2404648821262 rs1287205759 N.D. synonymousALys [K]3347
contig referenceGLys [K]3347
2404648831263 rs1320591064 N.D. missenseAIle [I]1348
contig referenceGVal [V]1348
2404648911271 rs766638031 0.000byFreq synonymousAPro [P]3350
contig referenceCPro [P]3350
2404648941274 rs34755742 N.D. frame shift-Ala [A]3352
contig referenceGGly [G]3352
2404648971277 rs753866148 0.000 synonymousTGly [G]3352
contig referenceCGly [G]3352
2404648971277 rs1274913750 N.D. frame shift-Leu [L]3355
contig referenceCPro [P]3355
2404648981278 rs755121116 0.000byFreq missenseTSer [S]1353
contig referenceCPro [P]1353
2404649001280 rs2229458 0.489byClusterbyFreqWith1000GenomeData0.4832 synonymousTPro [P]3353
contig referenceCPro [P]3353
2404649011281 rs748133275 0.000byFreq missenseAArg [R]1354
contig referenceGGly [G]1354
2404649031283 rs758328959 0.000byFreq synonymousAGly [G]3354
contig referenceGGly [G]3354
2404649041284 rs777678113 0.000byFreq missenseTSer [S]1355
contig referenceCPro [P]1355
2404649061286 rs746846972 0.000 synonymousCPro [P]3355
contig referenceTPro [P]3355
2404649081288 rs1424400919 N.D. -Gly [G]2356
2404649101290 rs1167751097 N.D. missenseALys [K]1357
contig referenceGGlu [E]1357
2404649121292 rs529467678 0.001byFreqWith1000GenomeData0.0006 synonymousAGlu [E]3357
contig referenceGGlu [E]3357
2404649161296 rs886101948 N.D. missenseTTrp [W]1359
contig referenceCArg [R]1359
2404649171297 rs879506095 N.D. missenseAGln [Q]2359
contig referenceGArg [R]2359
2404649191299 rs781019082 0.000 missenseTCys [C]1360
contig referenceCArg [R]1360
2404649201300 rs747885982 0.000byCluster missenseAHis [H]2360
contig referenceGArg [R]2360
2404649211301 rs1368743861 N.D. synonymousTArg [R]3360
contig referenceCArg [R]3360
2404649221302 rs769358152 0.000byFreq missenseTTrp [W]1361
synonymousAArg [R]1361
contig referenceCArg [R]1361
2404649231303 rs774918426 0.000byFreq missenseAGln [Q]2361
contig referenceGArg [R]2361
2404649251305 rs192798269 0.009byClusterbyFreqWith1000GenomeData0.0078 missenseASer [S]1362
contig referenceGGly [G]1362
2404649261306 rs1295088727 N.D. missenseAAsp [D]2362
contig referenceGGly [G]2362
2404649311311 rs975292754 N.D. missenseGVal [V]1364
contig referenceCLeu [L]1364
2404649321312 rs772497120 0.000 missenseAGln [Q]2364
missenseCPro [P]2364
contig referenceTLeu [L]2364
2404649351315 rs1284766497 N.D. missenseTVal [V]2365
contig referenceCAla [A]2365
2404649381318 rs1448514016 N.D. missenseTLeu [L]2366
contig referenceCPro [P]2366
2404649391319 rs377513817 0.000byClusterbyFreq synonymousAPro [P]3366
synonymousTPro [P]3366
contig referenceGPro [P]3366
2404649401320 rs1266275700 N.D. missenseTTrp [W]1367
contig referenceCArg [R]1367
2404649411321 rs370704920 0.000byCluster missenseAGln [Q]2367
missenseCPro [P]2367
missenseTLeu [L]2367
contig referenceGArg [R]2367
2404649431323 rs750739509 N.D. missenseALys [K]1368
contig referenceGGlu [E]1368
2404649471327 rs987705421 N.D. missenseALys [K]2369
contig referenceGArg [R]2369
2404649501330 rs754069210 0.000byFreq missenseTLeu [L]2370
contig referenceCPro [P]2370
2404649531333 rs759479706 0.000byFreq missenseTLeu [L]2371
contig referenceCPro [P]2371
2404649621342 rs200248156 0.000byClusterbyFreq missenseALys [K]2374
missenseGArg [R]2374
missenseTMet [M]2374
contig referenceCThr [T]2374
2404649631343 rs752757124 0.000byFreq synonymousAThr [T]3374
synonymousTThr [T]3374
contig referenceGThr [T]3374
2404649641344 rs1410631251 N.D. missenseGVal [V]1375
contig referenceCLeu [L]1375
2404649671347 rs1294962636 N.D. missenseCGln [Q]1376
contig referenceGGlu [E]1376
2404649741354 rs758331719 0.000 missenseAGln [Q]2378
contig referenceTLeu [L]2378
2404649751355 rs1331821129 N.D. synonymousCLeu [L]3378
contig referenceGLeu [L]3378
2404650771356 rs1254095226 N.D. missenseAIle [I]1379
contig referenceGVal [V]1379
2404650811360 rs765423377 0.000 missenseTPhe [F]2380
contig referenceCSer [S]2380
2404650821361 rs2228327 0.458byClusterbyFreqwithHapMapFreqWith1000GenomeData0.2474 synonymousTSer [S]3380
contig referenceCSer [S]3380
2404650831362 rs762968771 0.000byFreq missenseALys [K]1381
missenseCGln [Q]1381
contig referenceGGlu [E]1381
2404650931372 rs764053648 0.000byFreq missenseTVal [V]2384
contig referenceCAla [A]2384
2404650971376 rs1168029297 N.D. synonymousAGln [Q]3385
contig referenceGGln [Q]3385
2404651011380 rs751554964 0.000byFreq missenseGGly [G]1387
missenseTCys [C]1387
contig referenceCArg [R]1387
2404651021381 rs757320317 0.000 missenseAHis [H]2387
contig referenceGArg [R]2387
2404651031382 rs781129332 0.000byFreq synonymousTArg [R]3387
contig referenceCArg [R]3387
2404651041383 rs750226747 0.000 missenseAAsn [N]1388
contig referenceGAsp [D]1388
2404651061385 rs755771573 0.000byFreq synonymousTAsp [D]3388
contig referenceCAsp [D]3388
2404651071386 rs78856284 0.000byFreq YesmissenseAIle [I]1389
missenseCLeu [L]1389
contig referenceGVal [V]1389
2404651101389 rs1364789145 N.D. nonsenseT1390
contig referenceCGln [Q]1390
2404651121391 rs1228401486 N.D. missenseCHis [H]3390
contig referenceGGln [Q]3390
2404651161395 rs1272060633 N.D. missenseGVal [V]1392
contig referenceTPhe [F]1392
2404651181397 rs1354332246 N.D. missenseALeu [L]3392
contig referenceCPhe [F]3392
2404651191398 rs1209774805 N.D. missenseCArg [R]1393
contig referenceTTrp [W]1393
2404651281407 rs1274288573 N.D. missenseTPhe [F]1396
contig referenceCLeu [L]1396
2404651341413 rs1396104469 N.D. missenseAArg [R]1398
contig referenceGGly [G]1398
2404651361415 rs1470123187 N.D. synonymousAGly [G]3398
contig referenceGGly [G]3398
2404651371416 rs926249636 N.D. missenseGAla [A]1399
contig referenceAThr [T]1399
2404651421421 rs1482300323 N.D. synonymousALeu [L]3400
contig referenceGLeu [L]3400
2404651451424 rs1464399618 N.D. synonymousTCys [C]3401
contig referenceCCys [C]3401
2404651461425 rs748793217 0.000 missenseGGly [G]1402
contig referenceASer [S]1402
2404651481427 rs1423311867 N.D. missenseGArg [R]3402
contig referenceTSer [S]3402
2404651491428 rs937679330 N.D. missenseALys [K]1403
contig referenceGGlu [E]1403
2404651531432 rs1427604361 N.D. missenseCThr [T]2404
contig referenceALys [K]2404
2404651541433 rs754492580 0.000 missenseCAsn [N]3404
contig referenceGLys [K]3404
2404651561435 rs778198972 0.000 missenseCThr [T]2405
contig referenceTMet [M]2405
2404651571436 rs747504138 0.000 missenseAIle [I]3405
contig referenceGMet [M]3405
2404651581437 rs771498110 0.000byFreq missenseTSer [S]1406
contig referenceGAla [A]1406
2404651591438 rs1395080386 N.D. missenseTVal [V]2406
contig referenceCAla [A]2406
2404651621441 rs367854249 N.D. YesmissenseCPro [P]2407
contig referenceTLeu [L]2407
2404651631442 rs777028756 0.000 synonymousALeu [L]3407
contig referenceGLeu [L]3407
2404651661445 rs1318351715 N.D. synonymousTSer [S]3408
contig referenceCSer [S]3408
2404651701449 rs746239232 0.000 missenseAThr [T]1410
contig referenceGAla [A]1410
2404651731452 rs1171687507 N.D. frame shift-Val [V]1411
contig referenceASer [S]1411
2404651751454 rs1478950737 N.D. synonymousCSer [S]3411
contig referenceTSer [S]3411
2404651781457 rs992134192 N.D. synonymousCAsp [D]3412
contig referenceTAsp [D]3412
2404651791458 rs1255627099 N.D. missenseCHis [H]1413
contig referenceGAsp [D]1413
2404651821461 rs1213175751 N.D. missenseASer [S]1414
contig referenceCArg [R]1414
2404651831462 rs1383057748 N.D. missenseAHis [H]2414
contig referenceGArg [R]2414
2404651931472 rs372989599 0.000byClusterbyFreq Yes