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dbSNP

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SNP linked to Gene (geneID:9150) 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): 6
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_004715.4plus strandNP_004706.3forwardNT_010966.15GRCh38.p7<- currently shown
XM_017026078.1plus strandXP_016881567.1forwardNT_010966.15GRCh38.p7View snp on GeneModel
XM_011526261.1plus strandXP_011524563.1forwardNT_010966.15GRCh38.p7View snp on GeneModel
NM_048368.3plus strandNP_430255.2forwardNT_010966.15GRCh38.p7View snp on GeneModel
NM_001318511.1plus strandNP_001305440.1forwardNT_010966.15GRCh38.p7View snp on GeneModel
NM_001202504.1plus strandNP_001189433.1forwardNT_010966.15GRCh38.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_010966.15NM_004715.4NP_004706.3forwardplus strand1133, 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
79679949149 rs1167093618 N.D. missenseCThr [T]21
contig referenceTMet [M]21
79679951151 rs1271423816 N.D. missenseALys [K]12
contig referenceGGlu [E]12
79679953153 rs1468065862 N.D. missenseTAsp [D]32
synonymousAGlu [E]32
contig referenceGGlu [E]32
79679954154 rs1055862470 N.D. missenseAMet [M]13
contig referenceGVal [V]13
79679961161 rs571765834 0.000With1000GenomeData0.0022 missenseAAsp [D]25
missenseTVal [V]25
contig referenceCAla [A]25
79679970170 rs1468476745 N.D. missenseAHis [H]28
contig referenceGArg [R]28
79679974174 rs771179575 0.000 synonymousGVal [V]39
contig referenceTVal [V]39
79679975175 rs1055392587 N.D. missenseTSer [S]110
contig referenceCPro [P]110
79679979179 rs1159791864 N.D. missenseTVal [V]211
contig referenceCAla [A]211
79679980180 rs894184649 N.D. synonymousGAla [A]311
contig referenceCAla [A]311
79679981181 rs1268091561 N.D. missenseCGln [Q]112
contig referenceGGlu [E]112
79679982182 rs1362963506 N.D. missenseCAla [A]212
contig referenceAGlu [E]212
79679984184 rs1224180656 N.D. missenseASer [S]113
contig referenceGGly [G]113
79679986186 rs1473406754 N.D. synonymousTGly [G]313
contig referenceCGly [G]313
79679990190 rs1162304689 N.D. missenseTSer [S]115
contig referenceCPro [P]115
79679994194 rs1393155100 N.D. missenseALys [K]216
contig referenceCThr [T]216
79679995195 rs545494398 0.001byFreqWith1000GenomeData0.0004 synonymousAThr [T]316
contig referenceGThr [T]316
79679998198 rs1366574835 N.D. synonymousAAla [A]317
contig referenceGAla [A]317
79679999199 rs1378077396 N.D. missenseTSer [S]118
contig referenceGAla [A]118
79680005205 rs1324904727 N.D. missenseAThr [T]120
contig referenceGAla [A]120
79680007207 rs1352131215 N.D. synonymousAAla [A]320
synonymousTAla [A]320
contig referenceCAla [A]320
79680018218 rs1013867401 N.D. missenseTPhe [F]224
contig referenceGCys [C]224
79680020220 rs1024205760 N.D. missenseGAla [A]125
missenseTSer [S]125
contig referenceCPro [P]125
79680021221 rs1333477006 N.D. missenseGArg [R]225
missenseTLeu [L]225
contig referenceCPro [P]225
79680022222 rs1351486149 N.D. synonymousAPro [P]325
contig referenceGPro [P]325
79680023223 rs1378864624 N.D. missenseCArg [R]126
contig referenceGGly [G]126
79680024224 rs1230507450 N.D. missenseAGlu [E]226
missenseTVal [V]226
contig referenceGGly [G]226
79680025225 rs777163921 0.000 synonymousAGly [G]326
synonymousCGly [G]326
contig referenceGGly [G]326
79680027227 rs1190869738 N.D. missenseGArg [R]227
missenseTLeu [L]227
contig referenceCPro [P]227
79680028228 rs1247901043 N.D. synonymousGPro [P]327
contig referenceCPro [P]327
79680029229 rs1017150139 N.D. missenseTSer [S]128
contig referenceGAla [A]128
79680034234 rs1334381458 N.D. synonymousAPro [P]329
contig referenceGPro [P]329
79680035235 rs1484240002 N.D. missenseGVal [V]130
contig referenceCLeu [L]130
79680036236 rs1254351208 N.D. missenseAGln [Q]230
contig referenceTLeu [L]230
79680039239 rs201261339 N.D. frame shiftCPro [P]232
contig reference-Leu [L]232
79680041241 rs760034335 0.000 synonymousTLeu [L]132
contig referenceCLeu [L]132
79680043243 rs765360553 0.000 synonymousCLeu [L]332
contig referenceGLeu [L]332
79680049249 rs1308297464 N.D. synonymousAGlu [E]334
contig referenceGGlu [E]334
79680057257 rs1032105043 N.D. missenseGGly [G]237
contig referenceTVal [V]237
79680060260 rs1292042896 N.D. missenseTVal [V]238
contig referenceCAla [A]238
79680061261 rs1436066686 N.D. synonymousTAla [A]338
contig referenceGAla [A]338
79680063263 rs1203727297 N.D. missenseTVal [V]239
contig referenceCAla [A]239
79680072272 rs868431609 N.D. missenseTVal [V]242
contig referenceCAla [A]242
79680074274 rs1362805586 N.D. missenseCLeu [L]143
contig referenceGVal [V]143
79680078278 rs1319728282 N.D. missenseTLeu [L]244
contig referenceGArg [R]244
79680079279 rs1233282312 N.D. synonymousTArg [R]344
contig referenceCArg [R]344
79680082282 rs1255193972 N.D. missenseGMet [M]345
synonymousTIle [I]345
contig referenceCIle [I]345
79680084284 rs1483899060 N.D. missenseCAla [A]246
contig referenceGGly [G]246
79680087287 rs1185464485 N.D. missenseGTrp [W]247
missenseTLeu [L]247
contig referenceCSer [S]247
79680088288 rs775563755 0.002byFreq synonymousCSer [S]347
contig referenceGSer [S]347
79680097297 rs564311662 0.004byFreqWith1000GenomeData0.0090 synonymousAAla [A]350
synonymousGAla [A]350
contig referenceCAla [A]350
79680100300 rs751687521 0.000byFreq synonymousCVal [V]351
synonymousTVal [V]351
contig referenceGVal [V]351
79680103303 rs761704784 0.000byFreq missenseALeu [L]352
missenseGLeu [L]352
synonymousTPhe [F]352
contig referenceCPhe [F]352
79680104304 rs1408786944 N.D. missenseALys [K]153
contig referenceGGlu [E]153
79680107307 rs1328735976 N.D. missenseAThr [T]154
contig referenceGAla [A]154
79680108308 rs1371612545 N.D. missenseTVal [V]254
contig referenceCAla [A]254
79680109309 rs750440565 0.000 synonymousTAla [A]354
contig referenceCAla [A]354
79680110310 rs1311400129 N.D. missenseAThr [T]155
contig referenceGAla [A]155
79680112312 rs1355074264 N.D. synonymousAAla [A]355
synonymousTAla [A]355
contig referenceCAla [A]355
79680113313 rs1245776608 N.D. missenseAThr [T]156
contig referenceGAla [A]156
79680115315 rs1199911775 N.D. synonymousTAla [A]356
contig referenceCAla [A]356
79680116316 rs1286097464 N.D. missenseCPro [P]157
contig referenceTSer [S]157
79680117317 rs1337494266 N.D. missenseGCys [C]257
contig referenceCSer [S]257
79680118318 rs756131680 0.000 synonymousASer [S]357
contig referenceCSer [S]357
79680119319 rs1273651504 N.D. missenseAThr [T]158
contig referenceGAla [A]158
79680120320 rs1344172701 N.D. missenseAGlu [E]258
missenseTVal [V]258
contig referenceCAla [A]258
79680121321 rs1208466080 N.D. synonymousAAla [A]358
synonymousTAla [A]358
contig referenceGAla [A]358
79680122322 rs780068333 0.000byFreq nonsenseT159
missenseALys [K]159
contig referenceCGln [Q]159
79680123323 rs1485828959 N.D. missenseGArg [R]259
contig referenceAGln [Q]259
79680124324 rs1189188834 N.D. synonymousAGln [Q]359
contig referenceGGln [Q]359
79680125325 rs1179282666 N.D. (9bp) [AGA]160
79680126326 rs1239905457 N.D. missenseATyr [Y]260
missenseTPhe [F]260
contig referenceCSer [S]260
79680127327 rs1474782658 N.D. synonymousASer [S]360
synonymousTSer [S]360
contig referenceCSer [S]360
79680128328 rs17855830 0.436byClusterbyFreqWith1000GenomeData0.3446 missenseGAla [A]161
missenseGAla [A]161
contig referenceTSer [S]161
contig referenceTSer [S]161
79680129329 rs1391362261 N.D. missenseATyr [Y]261
contig referenceCSer [S]261
79680131331 rs1432097887 N.D. missenseAArg [R]162
missenseCArg [R]162
missenseTTrp [W]162
contig referenceGGly [G]162
79680132332 rs1172226219 N.D. missenseTVal [V]262
contig referenceGGly [G]262
79680133333 rs79644263 0.221byClusterbyFreqWith1000GenomeData0.0835 synonymousCGly [G]362
synonymousTGly [G]362
contig referenceGGly [G]362
79680134334 rs1396868995 N.D. missenseAThr [T]163
missenseTSer [S]163
contig referenceGAla [A]163
79680135335 rs562220773 0.000With1000GenomeData0.0002 missenseAAsp [D]263
contig referenceCAla [A]263
79680136336 rs747724850 0.000 synonymousTAla [A]363
contig referenceCAla [A]363
79680137337 rs1430138886 N.D. missenseCPro [P]164
contig referenceTSer [S]164
79680138338 rs1298332354 N.D. missenseGCys [C]264
contig referenceCSer [S]264
79680139339 rs1344240497 N.D. synonymousCSer [S]364
contig referenceTSer [S]364
79680140340 rs1370673430 N.D. nonsenseT165
contig referenceCGln [Q]165
79680142342 rs912170260 N.D. missenseCHis [H]365
contig referenceGGln [Q]365
79680143343 rs1231977979 N.D. missenseAThr [T]166
contig referenceTSer [S]166
79680144344 rs887121443 N.D. missenseGCys [C]266
contig referenceCSer [S]266
79680145345 rs968007679 N.D. synonymousASer [S]366
synonymousTSer [S]366
contig referenceCSer [S]366
79680148348 rs1369626656 N.D. synonymousGArg [R]367
contig referenceTArg [R]367
79680152352 rs1345419911 N.D. missenseCPro [P]169
contig referenceGAla [A]169
79680153353 rs771395058 0.000 missenseAAsp [D]269
missenseTVal [V]269
contig referenceCAla [A]269
79680154354 rs1281728977 N.D. synonymousAAla [A]369
contig referenceCAla [A]369
79680156356 rs1040984549 N.D. missenseTPhe [F]270
contig referenceCSer [S]270
79680157357 rs1187499069 N.D. synonymousTSer [S]370
contig referenceCSer [S]370
79680158358 rs1419680044 N.D. missenseCArg [R]171
contig referenceGGly [G]171
79680160360 rs201234471 0.002byClusterbyFreqWith1000GenomeData0.0026 synonymousCGly [G]371
contig referenceGGly [G]371
79680161361 rs1180176462 N.D. missenseASer [S]172
contig referenceGGly [G]172
79680162362 rs996752979 N.D. missenseAAsp [D]272
contig referenceGGly [G]272
79680163363 rs1028182398 N.D. synonymousTGly [G]372
contig referenceCGly [G]372
79680164364 rs111853095 N.D. missenseGGly [G]173
contig referenceTCys [C]173
79680165365 rs1192273178 N.D. missenseATyr [Y]273
contig referenceGCys [C]273
79680167367 rs936183704 N.D. missenseCLeu [L]174
contig referenceGVal [V]174
79680169369 rs770292192 0.001 synonymousCVal [V]374
contig referenceGVal [V]374
79680171371 rs1466892170 N.D. missenseAHis [H]275
contig referenceGArg [R]275
79680172372 rs775939813 0.000byFreq synonymousTArg [R]375
contig referenceCArg [R]375
79680174374 rs1379116232 N.D. missenseGArg [R]276
contig referenceCPro [P]276
79680175375 rs1383076712 N.D. synonymousTPro [P]376
contig referenceCPro [P]376
79680178378 rs893643197 N.D. synonymousTAla [A]377
contig referenceGAla [A]377
79680179379 rs1400279314 N.D. missenseTTrp [W]178
contig referenceCArg [R]178
79680181381 rs1321372185 N.D. synonymousTArg [R]378
contig referenceGArg [R]378
79680182382 rs1312562752 N.D. missenseGAla [A]179
contig referenceCPro [P]179
79680183383 rs1367440102 N.D. missenseTLeu [L]279
contig referenceCPro [P]279
79680184384 rs1349464155 N.D. synonymousTPro [P]379
contig referenceGPro [P]379
79680185385 rs1211928049 N.D. nonsenseT180
contig referenceGGlu [E]180
79680188388 rs763118972 0.000byFreq missenseTCys [C]181
contig referenceCArg [R]181
79680189389 rs1457458612 N.D. missenseAHis [H]281
contig referenceGArg [R]281
79680190390 rs1302565338 N.D. synonymousGArg [R]381
synonymousTArg [R]381
contig referenceCArg [R]381
79680192392 rs1331561490 N.D. missenseALys [K]282
contig referenceGArg [R]282
79680201401 rs915649307 N.D. missenseTLeu [L]285
contig referenceCSer [S]285
79680202402 rs1458215877 N.D. synonymousASer [S]385
contig referenceGSer [S]385
79680205405 rs1414920121 N.D. synonymousAGlu [E]386
contig referenceGGlu [E]386
79680206406 rs112059691 N.D. missenseASer [S]187
contig referenceCArg [R]187
79680207407 rs768583929 0.001 missenseTLeu [L]287
contig referenceGArg [R]287
79680208408 rs1156990300 N.D. synonymousTArg [R]387
contig referenceCArg [R]387
79680210410 rs1277490242 N.D. missenseGGly [G]288
contig referenceCAla [A]288
79680212412 rs949746367 N.D. missenseASer [S]189
contig referenceGGly [G]189
79680214414 rs1021090497 N.D. synonymousTGly [G]389
contig referenceCGly [G]389
79680219419 rs1349523317 N.D. missenseCAla [A]291
contig referenceTVal [V]291
79680221421 rs1201322576 N.D. missenseTTrp [W]192
contig referenceCArg [R]192
79680222422 rs966405383 N.D. missenseAGln [Q]292
contig referenceGArg [R]292
79680225425 rs1265021110 N.D. missenseCAla [A]293
contig referenceAGlu [E]293
79680227427 rs774697090 0.004byClusterbyFreq missenseAMet [M]194
synonymousTLeu [L]194
contig referenceCLeu [L]194
79680228428 rs1269516685 N.D. missenseCPro [P]294
contig referenceTLeu [L]294
79680232432 rs887043576 N.D. synonymousTCys [C]395
contig referenceCCys [C]395
79680235435 rs1466732533 N.D. synonymousAAla [A]396
contig referenceGAla [A]396
79680239439 rs1212468255 N.D. missenseTSer [S]198
contig referenceCPro [P]198
79680240440 rs1226016303 N.D. missenseTLeu [L]298
contig referenceCPro [P]298
79680241441 rs187756055 0.007byClusterbyFreqWith1000GenomeData0.0034 synonymousAPro [P]398
synonymousCPro [P]398
contig referenceGPro [P]398
79680242442 rs1035960838 N.D. missenseTCys [C]199
contig referenceGGly [G]199
79680246446 rs1038208260 N.D. missenseGArg [R]2100
contig referenceAGln [Q]2100
79680255455 rs1434189449 N.D. frame shift-Gln [Q]2104
contig referenceCPro [P]2104
79680256456 rs534987615 N.D.byCluster synonymousTAla [A]3103
contig referenceCAla [A]3103
79680257457 rs1201477411 N.D. missenseAThr [T]1104
contig referenceCPro [P]1104
79680261461 rs1362406578 N.D. missenseAGlu [E]2105
contig referenceGGly [G]2105
79695226463 rs1028353134 N.D. missenseAThr [T]1106
contig referenceGAla [A]1106
79695227464 rs115044443 0.023byClusterbyFreqWith1000GenomeData0.0198 missenseTVal [V]2106
contig referenceCAla [A]2106
79695228465 rs778283061 0.000 synonymousAAla [A]3106
contig referenceGAla [A]3106
79695229466 rs1212151939 N.D. missenseTPhe [F]1107
contig referenceGVal [V]1107
79695231468 rs200373527 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAVal [V]3107
contig referenceTVal [V]3107
79695235472 rs758002025 0.000byFreq missenseAMet [M]1109
contig referenceGVal [V]1109
79695239476 rs1183291748 N.D. missenseALys [K]2110
contig referenceGArg [R]2110
79695240477 rs1414505760 N.D. synonymousAArg [R]3110
contig referenceGArg [R]3110
79695241478 rs777343861 0.000 synonymousCLeu [L]1111
contig referenceTLeu [L]1111
79695247484 rs1284251354 N.D. nonsenseT1113
contig referenceGGly [G]1113
79695249486 rs746265488 0.000 synonymousGGly [G]3113
synonymousTGly [G]3113
contig referenceAGly [G]3113
79695254491 rs370123438 0.000byCluster missenseTIle [I]2115
contig referenceGSer [S]2115
79695258495 rs749890653 N.D. synonymousTHis [H]3116
contig referenceCHis [H]3116
79695260497 rs1369117187 N.D. missenseTLeu [L]2117
contig referenceCPro [P]2117
79695261498 rs139441883 0.000byClusterbyFreq synonymousAPro [P]3117
synonymousCPro [P]3117
synonymousTPro [P]3117
contig referenceGPro [P]3117
79695270507 rs997980756 N.D. missenseCIle [I]3120
contig referenceGMet [M]3120
79695274511 rs1296357446 N.D. missenseASer [S]1122
contig referenceGGly [G]1122
79695275512 rs540073859 0.000With1000GenomeData0.0002 missenseAAsp [D]2122
contig referenceGGly [G]2122
79695277514 rs768834830 0.000 synonymousTLeu [L]1123
contig referenceCLeu [L]1123
79695285522 rs558480120 0.000byFreqWith1000GenomeData0.0004 synonymousCAla [A]3125
contig referenceTAla [A]3125
79695286523 rs1353189937 N.D. missenseALys [K]1126
contig referenceGGlu [E]1126
79695290527 rs953525649 N.D. missenseATyr [Y]2127
contig referenceGCys [C]2127
79695294531 rs748190220 0.000byFreq synonymousGGly [G]3128
contig referenceCGly [G]3128
79695296533 rs1312892200 N.D. missenseGArg [R]2129
contig referenceAGln [Q]2129
79695305542 rs1467218041 N.D. missenseTIle [I]2132
contig referenceCThr [T]2132
79695308545 rs201529748 0.000byClusterbyFreq missenseGArg [R]2133
contig referenceAGln [Q]2133
79695980549 rs1287843840 N.D. missenseTPhe [F]3134
contig referenceGLeu [L]3134
79695982551 rs1388728931 N.D. missenseGArg [R]2135
contig referenceAGln [Q]2135
79695983552 rs1436524019 N.D. synonymousAGln [Q]3135
contig referenceGGln [Q]3135
79695987556 rs533070914 0.000With1000GenomeData0.0002 missenseGGlu [E]1137
contig referenceALys [K]1137
79695991560 rs754182939 0.000byFreq missenseGSer [S]2138
contig referenceAAsn [N]2138
79695992561 rs755319299 0.000byFreq synonymousTAsn [N]3138
contig referenceCAsn [N]3138
79695993562 rs779336386 0.000 missenseAArg [R]1139
contig referenceGGly [G]1139
79695994563 rs1381031396 N.D. missenseAGlu [E]2139
contig referenceGGly [G]2139
79695995564 rs1314219619 N.D. synonymousAGly [G]3139
contig referenceGGly [G]3139
79695999568 rs1213901540 N.D. nonsenseT1141
contig referenceCGln [Q]1141
79696000569 rs566903835 N.D.byCluster missenseGArg [R]2141
contig referenceAGln [Q]2141
79696002571 rs1267629194 N.D. missenseALys [K]1142
contig referenceCGln [Q]1142
79696003572 rs748633530 0.000 missenseGArg [R]2142
missenseTLeu [L]2142
contig referenceAGln [Q]2142
79696004573 rs947478994 N.D. missenseCHis [H]3142
contig referenceGGln [Q]3142
79696006575 rs1043190070 N.D. missenseGGly [G]2143
contig referenceTVal [V]2143
79696009578 rs758618193 0.000byClusterbyFreq missenseTLeu [L]2144
contig referenceCPro [P]2144
79696010579 rs368410495 0.000byClusterbyFreq synonymousAPro [P]3144
contig referenceGPro [P]3144
79696012581 rs538125122 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseCPro [P]2145
contig referenceTLeu [L]2145
79696013582 rs771285040 0.000 synonymousALeu [L]3145
synonymousCLeu [L]3145
contig referenceGLeu [L]3145
79696014583 rs781438598 0.000 missenseCPro [P]1146
contig referenceTSer [S]1146
79696017586 rs1461500169 N.D. missenseGAla [A]1147
contig referenceAThr [T]1147
79696018587 rs143464787 0.000byCluster missenseTMet [M]2147
contig referenceCThr [T]2147
79696019588 rs769613438 0.000byFreq synonymousAThr [T]3147
synonymousTThr [T]3147
contig referenceGThr [T]3147
79696022591 rs147215606 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousAAla [A]3148
contig referenceGAla [A]3148
79696025594 rs895725555 N.D. synonymousTThr [T]3149
contig referenceCThr [T]3149
79696026595 rs768519389 0.000byFreq missenseAMet [M]1150
missenseCLeu [L]1150
contig referenceGVal [V]1150
79696035604 rs761270780 0.000 missenseTLeu [L]1153
contig referenceGVal [V]1153
79696041610 rs1436373012 N.D. missenseTCys [C]1155
contig referenceASer [S]1155
79696043612 rs767097152 0.000byFreq synonymousTSer [S]3155
contig referenceCSer [S]3155
79696044613 rs750066692 0.000byFreq missenseAMet [M]1156
contig referenceGVal [V]1156
79696046615 rs1054052013 N.D. synonymousCVal [V]3156
contig referenceGVal [V]3156
79696048617 rs895424853 N.D. missenseTLeu [L]2157
contig referenceCPro [P]2157
79696049618 rs766365022 0.000byFreq synonymousAPro [P]3157
contig referenceGPro [P]3157
79696050619 rs140628056 0.000byCluster YesmissenseALys [K]1158
contig referenceGGlu [E]1158
79696056625 rs753314190 0.000 missenseGVal [V]1160
contig referenceAMet [M]1160
79696067636 rs758989135 0.000 synonymousTSer [S]3163
contig referenceCSer [S]3163
79696068637 rs142152406 0.000byCluster YesmissenseALys [K]1164
contig referenceGGlu [E]1164
79697865645 rs1168413539 N.D. synonymousCAla [A]3166
contig referenceTAla [A]3166
79697868648 rs538386867 0.000byFreqWith1000GenomeData0.0002 synonymousGGlu [E]3167
contig referenceAGlu [E]3167
79697871651 rs778860999 0.000 synonymousAGln [Q]3168
contig referenceGGln [Q]3168
79697872652 rs1332413710 N.D. synonymousTLeu [L]1169
contig referenceCLeu [L]1169
79697874654 rs1180625902 N.D. synonymousALeu [L]3169
contig referenceGLeu [L]3169
79697891671 rs965973017 N.D. missenseGArg [R]2175
contig referenceAGln [Q]2175
79697893673 rs1448851546 N.D. nonsenseT1176
contig referenceCArg [R]1176
79697894674 rs1285968096 N.D. missenseAGln [Q]2176
contig referenceGArg [R]2176
79697898678 rs748110892 0.000byFreq synonymousCLeu [L]3177
contig referenceGLeu [L]3177
79697902682 rs771539643 0.000byFreq nonsenseT1179
missenseGGly [G]1179
contig referenceCArg [R]1179
79697903683 rs138457062 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2179
contig referenceGArg [R]2179
79697909689 rs1344010498 N.D. missenseAGln [Q]2181
contig referenceGArg [R]2181
79697912692 rs1208397135 N.D. missenseGArg [R]2182
contig referenceALys [K]2182
79697913693 rs746437908 0.000 synonymousALys [K]3182
contig referenceGLys [K]3182
79697923703 rs1442572194 N.D. missenseGVal [V]1186
contig referenceAMet [M]1186
79697928708 rs770739531 0.000 synonymousAVal [V]3187
contig referenceGVal [V]3187
79697936716 rs776376122 0.000 missenseGGly [G]2190
contig referenceAAsp [D]2190
79697943723 rs1448278160 N.D. synonymousAThr [T]3192
contig referenceGThr [T]3192
79697952732 rs202234517 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTHis [H]3195
contig referenceCHis [H]3195
79697955735 rs764525963 0.000 synonymousTThr [T]3196
contig referenceAThr [T]3196
79697956736 rs775068154 0.000 missenseGAla [A]1197
contig referenceAThr [T]1197
79697958738 rs762372815 0.000byFreq synonymousTThr [T]3197
contig referenceCThr [T]3197
79697959739 rs1297261793 N.D. missenseALys [K]1198
contig referenceGGlu [E]1198
79697961741 rs767858229 0.000 missenseTAsp [D]3198
synonymousAGlu [E]3198
contig referenceGGlu [E]3198
79697962742 rs750542077 0.000 missenseALys [K]1199
contig referenceCGln [Q]1199
79697967747 rs756110395 0.000 synonymousTHis [H]3200
contig referenceCHis [H]3200
79697968748 rs766630055 0.000 missenseGGly [G]1201
contig referenceTCys [C]1201
79697976756 rs746594371 N.D. missenseTHis [H]3203
contig referenceGGln [Q]3203
79697977757 rs936760057 N.D. missenseGVal [V]1204
contig referenceAMet [M]1204
79697980760 rs1186407060 N.D. missenseGAla [A]1205
contig referenceTSer [S]1205
79697981761 rs1434344773 N.D. missenseTLeu [L]2205
contig referenceCSer [S]2205
79697982762 rs1298269356 N.D. synonymousASer [S]3205
synonymousCSer [S]3205
contig referenceGSer [S]3205
79704769771 rs771361353 0.000 synonymousTGly [G]3208
contig referenceCGly [G]3208
79704780782 rs1190734652 N.D. missenseATyr [Y]2212
contig referenceTPhe [F]2212
79704781783 rs776705715 0.000 missenseGLeu [L]3212
contig referenceCPhe [F]3212
79704784786 rs376898078 0.000byCluster YessynonymousAGln [Q]3213
contig referenceGGln [Q]3213
79704792794 rs1289719410 N.D. missenseAGln [Q]2216
contig referenceGArg [R]2216
79704794796 rs765527037 0.000 missenseASer [S]1217
contig referenceGGly [G]1217
79704798800 rs752830595 0.000 missenseCAla [A]2218
contig referenceAGlu [E]2218
79704809811 rs762853430 0.000 missenseGAsp [D]1222
contig referenceCHis [H]1222
79704813815 rs149796311 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTMet [M]2223
contig referenceCThr [T]2223
79704814816 rs146831211 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAThr [T]3223
contig referenceGThr [T]3223
79704815817 rs757261464 0.000 missenseTCys [C]1224
contig referenceCArg [R]1224
79704816818 rs1482890772 N.D. missenseAHis [H]2224
contig referenceGArg [R]2224
79704821823 rs781230368 0.000 missenseTCys [C]1226
contig referenceCArg [R]1226
79704824826 rs749988484 0.000 missenseGAla [A]1227
contig referenceCPro [P]1227
79704826828 rs1422163026 N.D. synonymousCPro [P]3227
synonymousGPro [P]3227
contig referenceAPro [P]3227
79704833835 rs1186885069 N.D. missenseCGln [Q]1230
contig referenceALys [K]1230
79704834836 rs755657975 0.000 missenseGArg [R]2230
contig referenceALys [K]2230
79704835837 rs1459365946 N.D. missenseTAsn [N]3230
contig referenceGLys [K]3230
79704838840 rs897999407 N.D. synonymousTAsp [D]3231
contig referenceCAsp [D]3231
79704839841 rs1225035973 N.D. missenseAIle [I]1232
contig referenceTPhe [F]1232
79704844846 rs1369678543 N.D. synonymousALeu [L]3233
contig referenceGLeu [L]3233
79704852854 rs779807226 0.000byClusterbyFreq missenseCThr [T]2236
contig referenceTIle [I]2236
79704853855 rs139050858 0.003byClusterbyFreqWith1000GenomeData0.0052 YessynonymousTIle [I]3236
contig referenceCIle [I]3236
79704854856 rs772555579 0.000 missenseAThr [T]1237
contig referenceGAla [A]1237
79704857859 rs1196280448 N.D. missenseCGln [Q]1238
contig referenceALys [K]1238
79704861863 rs1311810739 N.D. missenseCPro [P]2239
contig referenceTLeu [L]2239
79704865867 rs778004932 0.000 synonymousTTyr [Y]3240
contig referenceCTyr [Y]3240
79704866868 rs1312736838 N.D. missenseALys [K]1241
contig referenceGGlu [E]1241
79704871873 rs747317402 0.000 synonymousTLeu [L]3242
contig referenceGLeu [L]3242
79704874876 rs35925235 0.014byClusterbyFreqWith1000GenomeData0.0250 YessynonymousTHis [H]3243
synonymousTHis [H]3243
contig referenceCHis [H]3243
contig referenceCHis [H]3243
79704875877 rs573144395 0.000With1000GenomeData0.0002 missenseAIle [I]1244
contig referenceGVal [V]1244
79704883885 rs759650298 0.000 synonymousGThr [T]3246
synonymousTThr [T]3246
contig referenceCThr [T]3246
79704886888 rs540277905 0.000byFreqWith1000GenomeData0.0002 synonymousTPhe [F]3247
contig referenceCPhe [F]3247
79704887889 rs1253336959 N.D. missenseASer [S]1248
contig referenceGGly [G]1248
79704889891 rs1482362658 N.D. synonymousAGly [G]3248
contig referenceCGly [G]3248
79704894896 rs775837889 0.000 missenseAGln [Q]2250
contig referenceGArg [R]2250
79704895897 rs763079269 0.000 synonymousAArg [R]3250
contig referenceGArg [R]3250
79704898900 rs370316956 0.000byClusterbyFreq YessynonymousALeu [L]3251
contig referenceGLeu [L]3251
79704901903 rs751409711 0.000byFreq synonymousTTyr [Y]3252
contig referenceCTyr [Y]3252
79704902904 rs1389426026 N.D. missenseTSer [S]1253
contig referenceGAla [A]1253
79704904906 rs978655653 N.D. synonymousGAla [A]3253
contig referenceAAla [A]3253
79704908910 rs1256889693 N.D. missenseGAla [A]1255
contig referenceAThr [T]1255
79704910912 rs146625576 0.000byCluster YessynonymousTThr [T]3255
contig referenceCThr [T]3255
79704913915 rs149224075 0.001byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTIle [I]3256
contig referenceCIle [I]3256
79704914916 rs143317014 0.000byClusterbyFreq YesmissenseAThr [T]1257
missenseTSer [S]1257
contig referenceGAla [A]1257
79704916918 rs1302991787 N.D. synonymousTAla [A]3257
contig referenceAAla [A]3257
79710346920 rs774773877 0.000 missenseCAla [A]2258
contig referenceGGly [G]2258
79710353927 rs148352897 0.001byClusterbyFreqWith1000GenomeData0.0028 YessynonymousGLeu [L]3260
contig referenceALeu [L]3260
79710359933 rs140645111 0.003byClusterbyFreqWith1000GenomeData0.0016 YessynonymousTPro [P]3262
contig referenceCPro [P]3262
79710360934 rs370954252 0.000byClusterbyFreq YesmissenseALys [K]1263
contig referenceGGlu [E]1263
79710362936 rs1264881529 N.D. synonymousAGlu [E]3263
contig referenceGGlu [E]3263
79710365939 rs1229090644 N.D. missenseCAsn [N]3264
contig referenceGLys [K]3264
79710366940 rs763928222 N.D. missenseCGln [Q]1265
contig referenceALys [K]1265
79710369943 rs760470149 0.000 missenseAIle [I]1266
missenseGVal [V]1266
contig referenceCLeu [L]1266
79710381955 rs996803326 N.D. nonsenseT1270
contig referenceCArg [R]1270
79710382956 rs1335021101 N.D. missenseAGln [Q]2270
contig referenceGArg [R]2270
79710397971 rs766259703 0.000 missenseGGly [G]2275
contig referenceAAsp [D]2275
79710401975 rs1199392858 N.D. synonymousGGlu [E]3276
contig referenceAGlu [E]3276
79710402976 rs776598643 0.000 missenseASer [S]1277
missenseCArg [R]1277
contig referenceTCys [C]1277
79710405979 rs759017315 0.000 missenseCLeu [L]1278
missenseTPhe [F]1278
contig referenceAIle [I]1278
79710418992 rs4799078 N.D.byCluster YesmissenseGCys [C]2282
contig referenceCSer [S]2282
79710424998 rs1287682474 N.D. missenseTMet [M]2284
contig referenceCThr [T]2284
79710425999 rs764711170 0.000byFreq synonymousAThr [T]3284
contig referenceGThr [T]3284
797104351009 rs954280542 N.D. missenseGGly [G]1288
contig referenceAArg [R]1288
797104361010 rs1476678129 N.D. missenseALys [K]2288
contig referenceGArg [R]2288
797129841023 rs1217085214 N.D. synonymousCPro [P]3292
contig referenceTPro [P]3292
797129911030 rs1277362510 N.D. missenseAAsn [N]1295
contig referenceGAsp [D]1295
797129951034 rs1442518521 N.D. nonsenseG2296
contig referenceCSer [S]2296
797130061045 rs1326041935 N.D. missenseGVal [V]1300
contig referenceAIle [I]1300
797130181057 rs537176904 0.000byFreqWith1000GenomeData0.0002 synonymousAArg [R]1304
contig referenceCArg [R]1304
797130191058 rs373358727 N.D. YesmissenseAGln [Q]2304
contig referenceGArg [R]2304
797130261065 rs777904733 0.000byFreq synonymousCAsp [D]3306
contig referenceTAsp [D]3306
797130341073 rs747240626 0.000 missenseGArg [R]2309
contig referenceALys [K]2309
797130391078 rs770697149 0.000 missenseAThr [T]1311
contig referenceGAla [A]1311
797130461085 rs781044506 0.000 missenseGSer [S]2313
contig referenceAAsn [N]2313
797130481087 rs1476538277 N.D. synonymousTLeu [L]1314
contig referenceCLeu [L]1314
797130501089 rs745589707 0.000 synonymousALeu [L]3314
contig referenceGLeu [L]3314
797130561095 rs1424670562 N.D. frame shift-Glu [E]3317
contig referenceTGVal [V]3317
797130681107 rs769742515 0.000 synonymousCTyr [Y]3320
contig referenceTTyr [Y]3320
797130711110 rs775363266 0.000 synonymousGVal [V]3321
contig referenceAVal [V]3321
797130751114 rs776676633 0.000 frame shift-Ser [S]1323
contig referenceTPhe [F]1323
797130831122 rs1434273990 N.D. synonymousTGly [G]3325
contig referenceCGly [G]3325
797130841123 rs1318772359 N.D. missenseTSer [S]1326
contig referenceAThr [T]1326
797130851124 rs760761980 N.D.byCluster missenseTMet [M]2326
contig referenceCThr [T]2326
797130861125 rs599554 0.300byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData0.2089 YessynonymousAThr [T]3326
contig referenceGThr [T]3326
797130871126 rs1273910920 N.D. missenseASer [S]1327
contig referenceGGly [G]1327
797130911130 rs1277209962 N.D. missenseGGly [G]2328
contig referenceAAsp [D]2328
797130951134 rs768145127 0.000 missenseAIle [I]3329
contig referenceGMet [M]3329
797131001139 rs773944371 0.000byCluster missenseAGlu [E]2331
missenseTVal [V]2331
contig referenceCAla [A]2331
797131011140 rs761534995 0.000byFreq synonymousAAla [A]3331
synonymousCAla [A]3331
synonymousTAla [A]3331
contig referenceGAla [A]3331
797131041143 rs951237916 N.D. synonymousTPro [P]3332
contig referenceCPro [P]3332
797131131152 rs767021622 0.000 synonymousTSer [S]3335
contig referenceCSer [S]3335
797131141153 rs1177561596 N.D. nonsenseT1336
contig referenceCArg [R]1336
797131151154 rs777077877 0.000byCluster missenseAGln [Q]2336
contig referenceGArg [R]2336
797131161155 rs1248768113 N.D. synonymousTArg [R]3336
contig referenceAArg [R]3336
797131171156 rs1205031435 N.D. missenseALys [K]1337
contig referenceGGlu [E]1337
797131191158 rs1262932648 N.D. missenseCAsp [D]3337
contig referenceAGlu [E]3337
797131231162 rs759939476 0.000 nonsenseT1339
missenseGGlu [E]1339
contig referenceCGln [Q]1339
797131261165 rs765886235 0.000 missenseCPro [P]1340
contig referenceAThr [T]1340
797131271166 rs2279103 0.240byClusterbyFreqWith1000GenomeData0.0827 missenseTMet [M]2340
missenseTMet [M]2340
missenseTMet [M]2340
missenseTMet [M]2340
contig referenceCThr [T]2340
contig referenceCThr [T]2340
contig referenceCThr [T]2340
contig referenceCThr [T]2340
797131281167 rs907946328 N.D. synonymousAThr [T]3340
contig referenceGThr [T]3340
797131311170 rs758608221 0.000 synonymousGArg [R]3341
contig referenceAArg [R]3341
797131341173 rs1285400617 N.D. missenseTAsn [N]3342
contig referenceGLys [K]3342
797131371176 rs764228075 0.000 synonymousGLys [K]3343
contig referenceALys [K]3343
797131381177 rs751525685 0.000byCluster missenseAIle [I]1344
missenseCLeu [L]1344
contig referenceGVal [V]1344
797144911178 rs1305827228 N.D. missenseAGlu [E]2344
missenseCAla [A]2344
contig referenceTVal [V]2344
797144971184 rs1335871410 N.D. missenseGArg [R]2346
contig referenceAHis [H]2346
797144991186 rs1359133618 N.D. missenseCPro [P]1347
contig referenceTSer [S]1347
797145001187 rs757242194 0.000 missenseGCys [C]2347
missenseTPhe [F]2347
contig referenceCSer [S]2347
797145011188 rs767816565 0.000byFreq synonymousCSer [S]3347
contig referenceTSer [S]3347
797145021189 rs143386695 0.000byClusterbyFreq nonsenseT1348
contig referenceCArg [R]1348
797145031190 rs755974012 0.000byFreq missenseAGln [Q]2348
missenseCPro [P]2348
contig referenceGArg [R]2348
797145061193 rs1324376964 N.D. missenseAAsp [D]2349
contig referenceGGly [G]2349
797145071194 rs1045882050 N.D. synonymousTGly [G]3349
contig referenceCGly [G]3349
797145091196 rs1398626888 N.D. missenseTIle [I]2350
contig referenceCThr [T]2350
797145111198 rs1340820868 N.D. missenseALys [K]1351
contig referenceGGlu [E]1351
797145121199 rs1314849801 N.D. missenseTVal [V]2351
contig referenceAGlu [E]2351
797145131200 rs749027097 0.000 missenseCAsp [D]3351
contig referenceGGlu [E]3351
797145161203 rs147146455 0.001byClusterbyFreq synonymousGVal [V]3352
synonymousTVal [V]3352
contig referenceCVal [V]3352
797145181205 rs747734164 0.000 missenseTLeu [L]2353
contig referenceCSer [S]2353
797145191206 rs771461780 0.000 synonymousGSer [S]3353
contig referenceASer [S]3353
797145241211 rs1196519140 N.D. missenseAGln [Q]2355
contig referenceCPro [P]2355
797145251212 rs773056157 0.000byFreq synonymousGPro [P]3355
contig referenceAPro [P]3355
797145261213 rs139598569 0.002byClusterbyFreqWith1000GenomeData0.0044 missenseCPro [P]1356
contig referenceTSer [S]1356
797145281215 rs770639110 0.000byFreq synonymousCSer [S]3356
contig referenceTSer [S]3356
797145301217 rs1385737413 N.D. missenseTLeu [L]2357
contig referenceCPro [P]2357
797145311218 rs776008872 0.000byFreq synonymousAPro [P]3357
contig referenceGPro [P]3357
797145321219 rs1166416354 N.D. missenseGAla [A]1358
missenseTSer [S]1358
contig referenceCPro [P]1358
797145341221 rs763175422 0.000 synonymousAPro [P]3358
synonymousGPro [P]3358
synonymousTPro [P]3358
contig referenceCPro [P]3358
797145351222 rs530388928 0.000byFreqWith1000GenomeData0.0004 missenseAMet [M]1359
contig referenceGVal [V]1359
797145431230 rs995014681 N.D. missenseAGlu [E]3361
contig referenceCAsp [D]3361
797145471234 rs774687256 0.000 missenseCGln [Q]1363
contig referenceGGlu [E]1363
797145481235 rs761999155 0.000 missenseGGly [G]2363
contig referenceAGlu [E]2363
797145491236 rs767493848 0.000 missenseCAsp [D]3363
synonymousAGlu [E]3363
contig referenceGGlu [E]3363
797145501237 rs200499662 0.000byClusterbyFreq missenseAArg [R]1364
missenseCArg [R]1364
missenseTTrp [W]1364
contig referenceGGly [G]1364
797145521239 rs1336684849 N.D. synonymousAGly [G]3364
contig referenceGGly [G]3364
797145531240 rs759576761 0.000 frame shift(8bp)Glu [E]1365
contig reference-Val [V]1365
797145541241 rs372685072 0.000byCluster missenseCAla [A]2365
contig referenceTVal [V]2365
797145551242 rs765256411 0.000 -3366
797145571244 rs375762990 0.000byClusterbyFreq missenseTMet [M]2366
contig referenceCThr [T]2366
797145581245 rs1295844049 N.D. synonymousAThr [T]3366
contig referenceGThr [T]3366
797145591246 rs1307205034 N.D. missenseGGlu [E]1367
contig referenceCGln [Q]1367
797145601247 rs1228391777 N.D. missenseGArg [R]2367
contig referenceAGln [Q]2367
797145671254 rs1253198851 N.D. synonymousCPro [P]3369
contig referenceTPro [P]3369
797145681255 rs1286453231 N.D. nonsenseT1370
contig referenceGGly [G]1370
797145691256 rs778960284 0.000 missenseTVal [V]2370
contig referenceGGly [G]2370
797145701257 rs1442727644 N.D. synonymousCGly [G]3370
contig referenceAGly [G]3370
797145791266 rs200089987 0.000byClusterWith1000GenomeData0.0002 synonymousTPro [P]3373
contig referenceCPro [P]3373
797145811268 rs1203074734 N.D. missenseCThr [T]2374
contig referenceGSer [S]2374
797145821269 rs1019435921 N.D. missenseGArg [R]3374
contig referenceCSer [S]3374
797145841271 rs752565114 0.000byFreq missenseGSer [S]2375
contig referenceAAsn [N]2375
797145851272 rs757992276 0.000 synonymousCAsn [N]3375
contig referenceTAsn [N]3375
797145921279 rs1337323431 N.D. missenseALys [K]1378
contig referenceGGlu [E]1378
797145961283 rs1186510621 N.D. missenseGArg [R]2379
contig referenceALys [K]2379
797145971284 rs368900469 0.000byClusterbyFreq missenseCAsn [N]3379
synonymousALys [K]3379
contig referenceGLys [K]3379
797146011288 rs149326881 0.000byClusterbyFreq missenseAThr [T]1381
contig referenceGAla [A]1381
797146021289 rs1172115944 N.D. missenseTVal [V]2381
contig referenceCAla [A]2381
797146041291 rs371862690 0.000byClusterbyFreq missenseGGly [G]1382
missenseTTrp [W]1382
contig referenceCArg [R]1382
797146051292 rs768878157 0.000byFreq missenseAGln [Q]2382
contig referenceGArg [R]2382
797146101297 rs774977125 0.000 missenseGVal [V]1384
synonymousTLeu [L]1384
contig referenceCLeu [L]1384
797146111298 rs1384298085 N.D. missenseCPro [P]2384
contig referenceTLeu [L]2384
797146131300 rs1379044164 N.D. missenseGAsp [D]1385
contig referenceAAsn [N]1385
797146151302 rs745490279 0.001byClusterbyFreq missenseALys [K]3385
missenseGLys [K]3385
synonymousTAsn [N]3385
contig referenceCAsn [N]3385
797146161303 rs773306849 0.000byFreq missenseASer [S]1386
contig referenceGGly [G]1386
797146181305 rs752795278 0.000 -3388
797146181305 rs1361675049 N.D. synonymousTGly [G]3386
contig referenceCGly [G]3386
797146191306 rs760706817 0.000 missenseGGly [G]1387
contig referenceASer [S]1387
797146211308 rs376513601 0.000byCluster synonymousTSer [S]3387
contig referenceCSer [S]3387
797146221309 rs1032972561 N.D. missenseALys [K]1388
contig referenceGGlu [E]1388
797146261313 rs144647072 0.032byClusterbyFreqWith1000GenomeData0.0128 missenseTVal [V]2389
contig referenceCAla [A]2389
797146271314 rs759434586 0.000byFreq synonymousTAla [A]3389
contig referenceCAla [A]3389
797146281315 rs764935406 0.000byFreq missenseAThr [T]1390
contig referenceGAla [A]1390
797146311318 rs779557029 0.000byClusterbyFreq missenseCPro [P]1391
missenseGAla [A]1391
contig referenceAThr [T]1391
797146351322 rs758282005 0.000 missenseAGln [Q]2392
missenseTLeu [L]2392
contig referenceCPro [P]2392
797146361323 rs777803105 0.000byFreq synonymousAPro [P]3392
contig referenceGPro [P]3392
797146371324 rs751142100 0.000byFreq missenseTTrp [W]1393
synonymousAArg [R]1393
contig referenceCArg [R]1393
797146381325 rs781037719 0.000 missenseAGln [Q]2393
contig referenceGArg [R]2393
797146411328 rs745491727 0.000byFreq missenseGGly [G]2394
contig referenceAAsp [D]2394
797146441331 rs369213777 0.000byCluster missenseTLeu [L]2395
contig referenceCSer [S]2395
797146441331 rs758557472 0.000 -Phe [F]2395
797146491336 rs1471272224 N.D. missenseTCys [C]1397
contig referenceCArg [R]1397
797146501337 rs779160765 0.000byClusterbyFreq missenseAHis [H]2397
contig referenceGArg [R]2397
797146511338 rs1374647448 N.D. synonymousTArg [R]3397
contig referenceCArg [R]3397
797146521339 rs748500916 0.000 missenseGAla [A]1398
contig referenceCPro [P]1398
797146541341 rs372982303 0.001byClusterbyFreq synonymousTPro [P]3398
contig referenceCPro [P]3398
797146551342 rs374701308 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAArg [R]1399
contig referenceGGly [G]1399
797146601347 rs1365811017 N.D. missenseCAsn [N]3400
contig referenceGLys [K]3400
797146621349 rs981563721 N.D. missenseAGln [Q]2401
missenseGArg [R]2401
missenseTLeu [L]2401
contig referenceCPro [P]2401
797146631350 rs1318538443 N.D. synonymousGPro [P]3401
contig referenceAPro [P]3401
797146651352 rs747141618 0.000 missenseGGly [G]2402
contig referenceAAsp [D]2402
797146661353 rs770987096 0.000byFreq missenseAGlu [E]3402
synonymousTAsp [D]3402
contig referenceCAsp [D]3402
797146671354 rs182220997 0.000byClusterbyFreqWith1000GenomeData0.0010 missenseALys [K]1403
contig referenceGGlu [E]1403
797146691356 rs1038005819 N.D. missenseTAsp [D]3403
contig referenceGGlu [E]3403
797146701357 rs759680323 0.000 missenseGGly [G]1404
synonymousCArg [R]1404
contig referenceAArg [R]1404
797146781365 rs764379566 0.000 -3407
797146791366 rs149090172 0.001byClusterbyFreqWith1000GenomeData0.0016 missenseCArg [R]1407
contig referenceTTrp [W]1407
797146821369 rs1263423784 N.D. frame shift-Leu [L]1409
contig referenceCPro [P]1409
797146821369 rs1490103175 N.D. missenseAThr [T]1408
missenseGAla [A]1408
contig referenceCPro [P]1408
797146831370 rs1483683722 N.D. missenseTLeu [L]2408
contig referenceCPro [P]2408
797146841371 rs780939465 N.D.byCluster synonymousGPro [P]3408
synonymousTPro [P]3408
contig referenceCPro [P]3408
797146851372 rs775169775 0.000 missenseTSer [S]1409
contig referenceCPro [P]1409
797146881375 rs750018529 N.D. missenseAThr [T]1410
contig referenceGAla [A]1410
797146901377 rs538850499 0.000With1000GenomeData0.0002 synonymousGAla [A]3410
contig referenceCAla [A]3410
797146921379 rs764164164 0.000 missenseGArg [R]2411
contig referenceAGln [Q]2411
797146951382 rs1407960478 N.D. missenseTVal [V]2412
contig referenceCAla [A]2412
797146951382 rs1480119278 N.D. frame shift-Pro [P]2414
contig referenceCThr [T]2414
797146961383 rs1420176859 N.D. synonymousTAla [A]3412
contig referenceCAla [A]3412
797147011388 rs1161822822 N.D. missenseTIle [I]2414
contig referenceCThr [T]2414
797147021389 rs373127032 0.000byClusterbyFreq synonymousAThr [T]3414
synonymousTThr [T]3414
contig referenceCThr [T]3414
797147051392 rs1424360804 N.D. missenseAArg [R]3415
contig referenceCSer [S]3415
797147061393 rs1218165689 N.D. missenseCArg [R]1416
contig referenceASer [S]1416
797147071394 rs1445537939 N.D. missenseCThr [T]2416
contig referenceGSer [S]2416
797147081395 rs973714533 N.D. missenseGArg [R]3416
contig referenceCSer [S]3416
797147111398 rs34942031 0.003byClusterbyFreqWith1000GenomeData0.0042 synonymousGGln [Q]3417
contig referenceAGln [Q]3417
797147151402 rs1367640368 N.D. missenseGVal [V]1419
contig referenceCLeu [L]1419
797147171404 rs749893240 0.000byFreq synonymousALeu [L]3419
contig referenceGLeu [L]3419
797147211408 rs1324180086 N.D. missenseASer [S]1421
contig referenceGGly [G]1421
797147221409 rs755749388 0.000byFreq missenseAAsp [D]2421
contig referenceGGly [G]2421
797147231410 rs779721034 0.000byFreq synonymousTGly [G]3421
contig referenceCGly [G]3421
797147241411 rs202046588 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAThr [T]1422
missenseTSer [S]1422
contig referenceGAla [A]1422
797147251412 rs778311527 0.000 missenseTVal [V]2422
contig referenceCAla [A]2422
797147301417 rs1410735314 N.D. missenseALys [K]1424
contig referenceGGlu [E]1424
797147321419 rs912455713 N.D. synonymousAGlu [E]3424
contig referenceGGlu [E]3424
797147331420 rs747512151 0.000 missenseTSer [S]1425
contig referenceCPro [P]1425
797147341421 rs1437557494 N.D. missenseGArg [R]2425
contig referenceCPro [P]2425
797147371424 rs1246351601 N.D. missenseGArg [R]2426
contig referenceAGln [Q]2426
797147401427 rs1293526541 N.D. missenseAGlu [E]2427
contig referenceGGly [G]2427
797147431430 rs536225548 0.000byFreqWith1000GenomeData0.0002 missenseATyr [Y]2428
missenseTPhe [F]2428
contig referenceCSer [S]2428
797147451432 rs943864428 N.D. missenseCArg [R]1429
contig referenceTCys [C]1429
797147471434 rs1175754790 N.D. synonymousCCys [C]3429
contig referenceTCys [C]3429
797147491436 rs745911379 0.000 missenseTVal [V]2430
contig referenceCAla [A]2430
797147501437 rs769938798 0.000byFreq synonymousAAla [A]3430
synonymousTAla [A]3430
contig referenceGAla [A]3430
797147511438 rs775746165 0.000byFreq missenseGGlu [E]1431
contig referenceCGln [Q]1431
797147521439 rs1383859656 N.D. missenseCPro [P]2431
contig referenceAGln [Q]2431
797147541441 rs762885419 0.000 missenseASer [S]1432
contig referenceGGly [G]1432
797147601447 rs1019089147 N.D. missenseTTrp [W]1434
contig referenceCArg [R]1434
797147611448 rs201868467 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2434
contig referenceGArg [R]2434
797147621449 rs1469769682 N.D. synonymousAArg [R]3434
contig referenceGArg [R]3434
797147641451 rs774493691 0.000byFreq missenseGGly [G]2435
contig referenceTVal [V]2435
797147661453 rs761858971 0.000byFreq missenseAThr [T]1436
missenseTSer [S]1436
contig referenceGAla [A]1436
797147701457 rs767442391 0.000 missenseTLeu [L]2437
contig referenceCPro [P]2437
797147711458 rs373108713 0.006byClusterbyFreq synonymousAPro [P]3437
contig referenceGPro [P]3437
797147761463 rs1445346497 N.D. missenseGArg [R]2439
contig referenceAGln [Q]2439
797147771464 rs755622493 0.000 synonymousAGln [Q]3439
contig referenceGGln [Q]3439
797147781465 rs765997749 0.000byCluster missenseTTrp [W]1440
contig referenceCArg [R]1440
797147791466 rs377684676 0.000byClusterbyFreq missenseAGln [Q]2440
contig referenceGArg [R]2440
797147811468 rs1246463058 N.D. missenseTSer [S]1441
contig referenceCPro [P]1441
797147821469 rs758829654 0.000byFreq missenseAHis [H]2441
missenseGArg [R]2441
contig referenceCPro [P]2441
797147871474 rs1339720717 N.D. nonsenseT1443
contig referenceCGln [Q]1443
797147881475 rs778117052 0.000 missenseCPro [P]2443
missenseGArg [R]2443
contig referenceAGln [Q]2443
797147891476 rs1273201513 N.D. synonymousAGln [Q]3443
contig referenceGGln [Q]3443
797147901477 rs1308755434 N.D. missenseASer [S]1444
contig referenceGGly [G]1444
797147941481 rs1207367510 N.D. missenseTVal [V]2445
contig referenceCAla [A]2445
797147971484 rs747315467 0.000byFreq missenseALys [K]2446
missenseTMet [M]2446
contig referenceCThr [T]2446
797147981485 rs573314400 0.000byFreqWith1000GenomeData0.0002 synonymousAThr [T]3446
contig referenceGThr [T]3446
797147991486 rs957348897 N.D. missenseASer [S]1447
contig referenceGGly [G]1447
797148011488 rs745973351 0.000byFreq synonymousAGly [G]3447
contig referenceCGly [G]3447
797148111498 rs1474582117 N.D. missenseCHis [H]1451
contig referenceGAsp [D]1451
797148121499 rs1167568178 N.D. missenseGGly [G]2451
contig referenceAAsp [D]2451
797148181505 rs867755320 N.D. missenseGGly [G]2453
contig referenceAAsp [D]2453
797148191506 rs769892450 0.000 missenseAGlu [E]3453
contig referenceCAsp [D]3453
797148241511 rs1359265367 N.D. missenseGCys [C]2455
contig referenceCSer [S]2455
797148281515 rs534283873 0.000byFreqWith1000GenomeData0.0002 synonymousTSer [S]3456
contig referenceCSer [S]3456
797148291516 rs146328456 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]1457
missenseTTyr [Y]1457
contig referenceGAsp [D]1457
797148341521 rs370568072 0.000byClusterbyFreq synonymousTSer [S]3458
contig referenceCSer [S]3458
797148351522 rs761663035 0.000 missenseALys [K]1459
contig referenceGGlu [E]1459
797148401527 rs1338530497 N.D. synonymousTSer [S]3460
contig referenceCSer [S]3460
797148421529 rs1324485319 N.D. missenseAAsn [N]2461
contig referenceGSer [S]2461
797148461533 rs577869712 0.000byFreqWith1000GenomeData missenseAArg [R]3462
missenseGArg [R]3462
synonymousCSer [S]3462
contig referenceTSer [S]3462
797148521539 rs773179841 0.000byFreq synonymousTSer [S]3464
contig referenceCSer [S]3464
797148531540 rs749086216 0.000byFreq missenseALys [K]1465
contig referenceGGlu [E]1465
797148551542 rs1408211892 N.D. synonymousAGlu [E]3465
contig referenceGGlu [E]3465
797148561543 rs1015678231 N.D. missenseTCys [C]1466
contig referenceGGly [G]1466
797148571544 rs1221206818 N.D. missenseAAsp [D]2466
contig referenceGGly [G]2466
797148581545 rs765910020 0.000 synonymousTGly [G]3466
contig referenceCGly [G]3466
797148601547 rs770886722 0.000byClusterbyFreq missenseALys [K]2467
missenseTMet [M]2467
contig referenceCThr [T]2467
797148611548 rs375368580 0.000byCluster synonymousAThr [T]3467
contig referenceGThr [T]3467
797148621549 rs1265480246 N.D. missenseGGlu [E]1468
contig referenceALys [K]1468
797148631550 rs1445638262 N.D. missenseCThr [T]2468
missenseGArg [R]2468
contig referenceALys [K]2468
797148651552 rs1192869143 N.D. -1472
797148671554 rs973830692 N.D. synonymousTSer [S]3469
contig referenceCSer [S]3469
797148711558 rs751952205 0.000byFreq missenseCPro [P]1471
contig referenceTSer [S]1471
797148761563 rs757610239 0.000byFreq synonymousTSer [S]3472
contig referenceCSer [S]3472
797148771564 rs781594932 0.000byClusterbyFreq missenseAThr [T]1473
missenseCPro [P]1473
contig referenceGAla [A]1473
797148791566 rs1470313122 N.D. synonymousGAla [A]3473
contig referenceCAla [A]3473
797148811568 rs756212491 0.000 missenseTPhe [F]2474
contig referenceCSer [S]2474
797148841571 rs780184211 0.000 missenseGGly [G]2475
contig referenceAAsp [D]2475
797148881575 rs937093048 N.D. synonymousTGly [G]3476
contig referenceCGly [G]3476
797148891576 rs1318703638 N.D. missenseALys [K]1477
contig referenceGGlu [E]1477
797148931580 rs1327870884 N.D. missenseAAsn [N]2478
contig referenceGSer [S]2478