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dbSNP

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SNP linked to Gene (geneID:83872) 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): 4
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_031935.2plus strandNP_114141.2forwardNT_004487.20GRCh38.p7<- currently shown
XM_017002437.1plus strandXP_016857926.1forwardNT_004487.20GRCh38.p7View snp on GeneModel
XM_011510041.2plus strandXP_011508343.1forwardNT_004487.20GRCh38.p7View snp on GeneModel
XM_011510038.2plus strandXP_011508340.1forwardNT_004487.20GRCh38.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_004487.20NM_031935.2NP_114141.2forwardplus strand5314, 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
185734787237 rs761062421 0.000byFreq missenseATyr [Y]23
contig referenceCSer [S]23
185734788238 rs372177834 0.000byClusterbyFreq synonymousTSer [S]33
contig referenceCSer [S]33
185734790240 rs1426953928 N.D. nonsenseA24
contig referenceGTrp [W]24
185734792242 rs769189508 N.D. missenseALys [K]15
contig referenceGGlu [E]15
185734793243 rs754274993 0.000 missenseGGly [G]25
contig referenceAGlu [E]25
185734795245 rs940582176 N.D. missenseAIle [I]16
contig referenceGVal [V]16
185734800250 rs755563614 0.000byFreq synonymousAVal [V]37
contig referenceCVal [V]37
185734802252 rs1204886555 N.D. missenseTLeu [L]28
contig referenceAHis [H]28
185734805255 rs150931652 0.000byClusterbyFreq missenseTIle [I]29
contig referenceCThr [T]29
185734806256 rs1479594971 N.D. synonymousGThr [T]39
contig referenceAThr [T]39
185734807257 rs752822947 0.000 missenseAIle [I]110
contig referenceGVal [V]110
185734811261 rs758634864 0.000 missenseCSer [S]211
contig referenceTPhe [F]211
185734813263 rs1464909581 N.D. synonymousTLeu [L]112
contig referenceCLeu [L]112
185734815265 rs76631922 0.001byClusterbyFreqWith1000GenomeData0.0024 synonymousALeu [L]312
synonymousCLeu [L]312
contig referenceGLeu [L]312
185734819269 rs1161902426 N.D. missenseAThr [T]114
missenseCPro [P]114
contig referenceGAla [A]114
185734820270 rs745617416 0.000 missenseTVal [V]214
contig referenceCAla [A]214
185734821271 rs1315681536 N.D. -316
185734828278 rs1410755595 N.D. missenseAAsn [N]117
contig referenceTTyr [Y]117
185734829279 rs375537965 0.000byClusterbyFreq missenseGCys [C]217
contig referenceATyr [Y]217
185734833283 rs547291068 0.000byFreqWith1000GenomeData0.0002 synonymousCSer [S]318
contig referenceTSer [S]318
185734836286 rs114170176 0.012byClusterbyFreqWith1000GenomeData0.0120 synonymousTSer [S]319
contig referenceCSer [S]319
185734837287 rs888816751 N.D. synonymousTLeu [L]120
contig referenceCLeu [L]120
185734841291 rs768644658 0.000 missenseTVal [V]221
contig referenceCAla [A]221
185734842292 rs778228244 0.000byFreq synonymousCAla [A]321
contig referenceTAla [A]321
185734844294 rs747719975 0.000 missenseGArg [R]222
contig referenceAGln [Q]222
185734849299 rs1365976657 N.D. missenseAThr [T]124
contig referenceGAla [A]124
185734851301 rs771676142 0.000byFreq synonymousAAla [A]324
synonymousTAla [A]324
contig referenceGAla [A]324
185734854304 rs772823654 0.000 synonymousTSer [S]325
contig referenceCSer [S]325
185734855305 rs201562174 0.000byClusterbyFreq missenseTSer [S]126
contig referenceCPro [P]126
185734856306 rs1271963928 N.D. missenseTLeu [L]226
contig referenceCPro [P]226
185734857307 rs771269323 0.000 synonymousGPro [P]326
contig referenceCPro [P]326
185734859309 rs1205453091 N.D. missenseCPro [P]227
contig referenceAGln [Q]227
185734868318 rs777116837 0.000 missenseAAsn [N]230
missenseGSer [S]230
contig referenceTIle [I]230
185734869319 rs759890607 0.000 synonymousTIle [I]330
contig referenceCIle [I]330
185734873323 rs943976154 N.D. missenseAThr [T]132
contig referenceGAla [A]132
185734888338 rs199574143 0.000byClusterbyFreq missenseALys [K]137
contig referenceGGlu [E]137
185734891341 rs1249982831 N.D. missenseAArg [R]138
contig referenceGGly [G]138
185734893343 rs115169621 0.007byClusterbyFreqWith1000GenomeData0.0020 synonymousAGly [G]338
synonymousTGly [G]338
contig referenceGGly [G]338
185734894344 rs138241069 0.000byCluster missenseAThr [T]139
contig referenceGAla [A]139
185734899349 rs751820820 0.000byFreq synonymousTSer [S]340
contig referenceCSer [S]340
185734902352 rs1417780445 N.D. synonymousAThr [T]341
contig referenceGThr [T]341
185734905355 rs757621363 0.000byFreq missenseTPhe [F]342
synonymousALeu [L]342
contig referenceGLeu [L]342
185734906356 rs753681391 0.000byFreq missenseAThr [T]143
missenseTSer [S]143
contig referenceGAla [A]143
185734914364 rs754826733 0.000 synonymousTVal [V]345
contig referenceGVal [V]345
185734915365 rs1184303714 N.D. missenseAIle [I]146
contig referenceTPhe [F]146
185734932382 rs1166744373 N.D. synonymousCSer [S]351
contig referenceTSer [S]351
185734933383 rs778944028 0.000 missenseGVal [V]152
contig referenceAMet [M]152
185734936386 rs1212022877 N.D. missenseAAsn [N]153
contig referenceTTyr [Y]153
185734942392 rs748127350 0.000 missenseTTyr [Y]155
contig referenceGAsp [D]155
185734952402 rs1048441564 N.D. missenseGArg [R]258
missenseTLeu [L]258
contig referenceAGln [Q]258
185734959409 rs1430983710 N.D. missenseGMet [M]360
contig referenceTIle [I]360
185734964414 rs771551161 0.000 missenseAGlu [E]262
contig referenceGGly [G]262
185734969419 rs777319602 0.000byFreq missenseAThr [T]164
contig referenceTSer [S]164
185734979429 rs376373045 0.000byClusterbyFreq missenseCSer [S]267
contig referenceTLeu [L]267
185734985435 rs1263547680 N.D. missenseTMet [M]269
contig referenceCThr [T]269
185734986436 rs770572008 0.000byFreq synonymousAThr [T]369
contig referenceGThr [T]369
185734987437 rs776798391 0.000 missenseAThr [T]170
contig referenceTSer [S]170
185734991441 rs1286368364 N.D. missenseGTrp [W]271
contig referenceTLeu [L]271
185734998448 rs1380670846 N.D. missenseTSer [S]373
contig referenceAArg [R]373
185735000450 rs1447701684 N.D. missenseGArg [R]274
contig referenceCPro [P]274
185735002452 rs777890155 0.000 frame shift-Asp [D]176
contig referenceAArg [R]176
185735006456 rs759967411 0.000 missenseTIle [I]276
contig referenceGArg [R]276
185735008458 rs1004371882 N.D. missenseAThr [T]177
contig referenceCPro [P]177
185735010460 rs376088038 N.D. synonymousAPro [P]377
contig referenceTPro [P]377
185735010460 rs749461334 0.000 -378
185735012462 rs543568589 N.D. missenseGArg [R]278
contig referenceTLeu [L]278
185735013463 rs1303297801 N.D. synonymousCLeu [L]378
contig referenceTLeu [L]378
185735022472 rs1200524770 N.D. synonymousCPhe [F]381
contig referenceTPhe [F]381
185735031481 rs143214070 0.000byClusterbyFreq synonymousAVal [V]384
contig referenceGVal [V]384
185735033483 rs776032407 0.000 missenseGArg [R]285
contig referenceCPro [P]285
185735039489 rs1429968888 N.D. missenseGArg [R]287
contig referenceAHis [H]287
185735040490 rs906784787 N.D. synonymousCHis [H]387
contig referenceTHis [H]387
185735043493 rs960780930 N.D. synonymousCAsp [D]388
contig referenceTAsp [D]388
185735046496 rs763601734 0.000 synonymousCPro [P]389
synonymousGPro [P]389
contig referenceAPro [P]389
185846037509 rs1238247172 N.D. missenseTLeu [L]194
contig referenceGVal [V]194
185846043515 rs1277802177 N.D. missenseGVal [V]196
contig referenceAIle [I]196
185846047519 rs1361744769 N.D. missenseTIle [I]297
contig referenceCThr [T]297
185846050522 rs769299998 0.000 missenseALys [K]298
contig referenceCThr [T]298
185846054526 rs1291402324 N.D. missenseAGlu [E]399
synonymousCAsp [D]399
contig referenceTAsp [D]399
185846055527 rs1028100946 N.D. missenseAThr [T]1100
contig referenceCPro [P]1100
185846059531 rs774524448 0.000 missenseGArg [R]2101
contig referenceALys [K]2101
185846060532 rs1197868755 N.D. missenseTAsn [N]3101
contig referenceGLys [K]3101
185846062534 rs1362289754 N.D. missenseGArg [R]2102
contig referenceALys [K]2102
185846069541 rs1026052018 N.D. synonymousGGln [Q]3104
contig referenceAGln [Q]3104
185846072544 rs1428406018 N.D. synonymousCTyr [Y]3105
contig referenceTTyr [Y]3105
185846073545 rs1437720763 N.D. missenseALys [K]1106
contig referenceGGlu [E]1106
185846074546 rs762018712 0.000 missenseGGly [G]2106
contig referenceAGlu [E]2106
185846080552 rs571498680 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]2108
contig referenceGArg [R]2108
185846082554 rs1177109944 N.D. missenseALys [K]1109
contig referenceGGlu [E]1109
185846089561 rs773464453 0.000 missenseGCys [C]2111
contig referenceATyr [Y]2111
185846095567 rs760866986 0.000 missenseGArg [R]2113
contig referenceAGln [Q]2113
185846096568 rs765073432 0.000byFreq missenseTHis [H]3113
contig referenceGGln [Q]3113
185864473572 rs767047944 0.000 missenseASer [S]1115
contig referenceGGly [G]1115
185864477576 rs1261914269 N.D. missenseCAla [A]2116
contig referenceGGly [G]2116
185864486585 rs960633462 N.D. missenseTLeu [L]2119
contig referenceCPro [P]2119
185864487586 rs1482013085 N.D. synonymousGPro [P]3119
contig referenceAPro [P]3119
185864498597 rs749916461 0.000byFreq missenseCThr [T]2123
contig referenceTIle [I]2123
185864499598 rs114305799 0.002byClusterbyFreqWith1000GenomeData0.0012 synonymousCIle [I]3123
contig referenceTIle [I]3123
185864500599 rs779884302 0.000byFreq missenseAArg [R]1124
contig referenceGGly [G]1124
185864501600 rs753588263 0.000byFreq missenseAGlu [E]2124
contig referenceGGly [G]2124
185864505604 rs1411122393 N.D. synonymousCAla [A]3125
contig referenceTAla [A]3125
185864507606 rs1180957270 N.D. missenseCThr [T]2126
contig referenceTIle [I]2126
185864513612 rs1431207973 N.D. missenseGSer [S]2128
contig referenceTIle [I]2128
185864515614 rs1480697139 N.D. missenseTSer [S]1129
contig referenceGAla [A]1129
185864529628 rs954658373 N.D. synonymousCSer [S]3133
contig referenceTSer [S]3133
185864530629 rs1253728273 N.D. missenseTPhe [F]1134
contig referenceCLeu [L]1134
185864537636 rs755376220 0.000byFreq missenseCAla [A]2136
contig referenceGGly [G]2136
185864538637 rs549922182 0.000With1000GenomeData0.0002 synonymousCGly [G]3136
contig referenceTGly [G]3136
185864549648 rs779480904 0.000byFreq missenseGCys [C]2140
contig referenceATyr [Y]2140
185864556655 rs748687136 0.000byFreq synonymousTPhe [F]3142
contig referenceCPhe [F]3142
185864558657 rs772458833 0.000 missenseTIle [I]2143
contig referenceCThr [T]2143
185864559658 rs777849268 0.000 synonymousGThr [T]3143
contig referenceTThr [T]3143
185864561660 rs747077384 0.000 missenseCAla [A]2144
contig referenceAAsp [D]2144
185864566665 rs771097693 0.000 missenseTTrp [W]1146
contig referenceCArg [R]1146
185864567666 rs146401446 0.001byClusterbyFreq missenseAGln [Q]2146
contig referenceGArg [R]2146
185864568667 rs1346564347 N.D. synonymousAArg [R]3146
contig referenceGArg [R]3146
185864571670 rs759803254 0.000byFreq synonymousTSer [S]3147
contig referenceCSer [S]3147
185864572671 rs1282007836 N.D. missenseGGlu [E]1148
contig referenceALys [K]1148
185864573672 rs150668869 0.000byCluster missenseGArg [R]2148
contig referenceALys [K]2148
185864574673 rs774079243 0.000 synonymousGLys [K]3148
contig referenceALys [K]3148
185864578677 rs761753843 0.000byFreq missenseCHis [H]1150
contig referenceTTyr [Y]1150
185864581680 rs183973584 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTTrp [W]1151
contig referenceCArg [R]1151
185864582681 rs1214034266 N.D. missenseAGln [Q]2151
contig referenceGArg [R]2151
185864583682 rs758918220 0.000byFreq synonymousAArg [R]3151
contig referenceGArg [R]3151
185864586685 rs187202682 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousGLeu [L]3152
contig referenceCLeu [L]3152
185864587686 rs766040416 0.000byFreq missenseTSer [S]1153
contig referenceAThr [T]1153
185864588687 rs753532692 0.000 missenseTIle [I]2153
contig referenceCThr [T]2153
185864590689 rs754747434 0.000 missenseTTyr [Y]1154
contig referenceCHis [H]1154
185864591690 rs970620629 N.D. missenseGArg [R]2154
contig referenceAHis [H]2154
185864592691 rs779357269 0.000 missenseAGln [Q]3154
contig referenceTHis [H]3154
185864609708 rs1366775828 N.D. missenseCThr [T]2160
contig referenceTIle [I]2160
185864610709 rs1363329564 N.D. synonymousTIle [I]3160
contig referenceCIle [I]3160
185864612711 rs1293579645 N.D. missenseGArg [R]2161
contig referenceAGln [Q]2161
185864614713 rs753014673 0.000 nonsenseT1162
contig referenceCGln [Q]1162
185864620719 rs758888242 0.000byFreq nonsenseT1164
missenseGGlu [E]1164
contig referenceCGln [Q]1164
185864624723 rs935511688 N.D. missenseTLeu [L]2165
contig referenceCSer [S]2165
185864625724 rs547284871 0.000With1000GenomeData0.0002 synonymousGSer [S]3165
contig referenceASer [S]3165
185865743730 rs758656019 0.000byFreq synonymousTVal [V]3167
contig referenceCVal [V]3167
185865744731 rs764567562 0.000byClusterbyFreq missenseAIle [I]1168
missenseTLeu [L]1168
contig referenceGVal [V]1168
185865746733 rs1227414754 N.D. synonymousTVal [V]3168
contig referenceAVal [V]3168
185865750737 rs751996725 0.000byFreq missenseAIle [I]1170
missenseTPhe [F]1170
contig referenceGVal [V]1170
185865752739 rs757825455 0.000byFreq synonymousCVal [V]3170
contig referenceTVal [V]3170
185865753740 rs1309087827 N.D. synonymousTLeu [L]1171
contig referenceCLeu [L]1171
185865765752 rs781180621 0.000 missenseCArg [R]1175
contig referenceTCys [C]1175
185865769756 rs140334691 0.000byCluster missenseTVal [V]2176
contig referenceAAsp [D]2176
185865770757 rs756290854 0.000 missenseAGlu [E]3176
synonymousCAsp [D]3176
contig referenceTAsp [D]3176
185865771758 rs1185424477 N.D. missenseAAsn [N]1177
contig referenceGAsp [D]1177
185865773760 rs905823887 N.D. synonymousTAsp [D]3177
contig referenceCAsp [D]3177
185865777764 rs1243860052 N.D. missenseCPro [P]1179
contig referenceAThr [T]1179
185865782769 rs780108870 0.000byFreq synonymousCHis [H]3180
contig referenceTHis [H]3180
185865783770 rs749573863 0.000byFreq missenseGVal [V]1181
contig referenceAIle [I]1181
185865787774 rs1057231229 N.D. missenseCAla [A]2182
contig referenceGGly [G]2182
185865788775 rs771754219 0.000 synonymousGGly [G]3182
contig referenceAGly [G]3182
185865800787 rs773130700 0.000byFreq synonymousCTyr [Y]3186
contig referenceTTyr [Y]3186
185865802789 rs111585887 0.500 missenseTVal [V]2187
contig referenceAGlu [E]2187
185865807794 rs1170339339 N.D. missenseTPhe [F]1189
contig referenceAIle [I]1189
185865812799 rs746881505 0.000 synonymousTAla [A]3190
contig referenceCAla [A]3190
185865815802 rs1471243576 N.D. synonymousCSer [S]3191
contig referenceTSer [S]3191
185865818805 rs377577511 0.000byClusterbyFreq synonymousCThr [T]3192
synonymousGThr [T]3192
contig referenceAThr [T]3192
185865825812 rs113687431 0.500 missenseASer [S]1195
contig referenceGGly [G]1195
185865830817 rs1228645438 N.D. synonymousGGln [Q]3196
contig referenceAGln [Q]3196
185865836823 rs1382914230 N.D. missenseGLeu [L]3198
contig referenceCPhe [F]3198
185865843830 rs759144564 0.000byFreq missenseAAsn [N]1201
contig referenceGAsp [D]1201
185865844831 rs182468717 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]2201
contig referenceAAsp [D]2201
185865847834 rs1381399693 N.D. missenseGArg [R]2202
contig referenceALys [K]2202
185865851838 rs774979781 0.000 missenseCAsn [N]3203
missenseTAsn [N]3203
contig referenceALys [K]3203
185865857844 rs1465503755 N.D. synonymousGVal [V]3205
contig referenceTVal [V]3205
185909337851 rs374091056 0.000byCluster missenseTLeu [L]1208
contig referenceGVal [V]1208
185909347861 rs767920195 0.000 missenseTLeu [L]2211
contig referenceGTrp [W]2211
185909356870 rs1436232459 N.D. missenseGGly [G]2214
contig referenceAGlu [E]2214
185909359873 rs144496380 0.000byCluster missenseGGly [G]2215
contig referenceCAla [A]2215
185909361875 rs777567294 0.000 -1216
185909363877 rs555686672 N.D. synonymousGVal [V]3216
contig referenceAVal [V]3216
185909367881 rs1297239048 N.D. missenseAThr [T]1218
contig referenceGAla [A]1218
185909375889 rs1254810217 N.D. missenseTAsn [N]3220
contig referenceALys [K]3220
185909382896 rs572742171 0.000byFreqWith1000GenomeData0.0002 missenseAIle [I]1223
contig referenceCLeu [L]1223
185909385899 rs1406601210 N.D. missenseGVal [V]1224
contig referenceTLeu [L]1224
185909386900 rs761314388 0.000byFreq nonsenseA2224
missenseCSer [S]2224
contig referenceTLeu [L]2224
185909389903 rs753969337 0.000 missenseTPhe [F]2225
contig referenceCSer [S]2225
185909393907 rs967855092 N.D. synonymousGThr [T]3226
contig referenceAThr [T]3226
185909398912 rs1434260846 N.D. missenseGArg [R]2228
contig referenceAHis [H]2228
185909403917 rs755109923 0.000 missenseALys [K]1230
missenseCGln [Q]1230
contig referenceGGlu [E]1230
185909405919 rs1351560698 N.D. synonymousGGlu [E]3230
contig referenceAGlu [E]3230
185909409923 rs779304400 0.000 missenseAThr [T]1232
contig referenceGAla [A]1232
185909412926 rs540097337 0.000byFreqWith1000GenomeData0.0002 missenseAIle [I]1233
missenseCLeu [L]1233
contig referenceGVal [V]1233
185909413927 rs141324048 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCAla [A]2233
contig referenceTVal [V]2233
185909415929 rs781187374 0.000byFreq missenseGAsp [D]1234
contig referenceAAsn [N]1234
185909419933 rs745795170 0.000byFreq missenseTIle [I]2235
contig referenceCThr [T]2235
185909420934 rs367670098 0.000byCluster synonymousCThr [T]3235
contig referenceTThr [T]3235
185909423937 rs779373213 0.000 missenseCCys [C]3236
contig referenceGTrp [W]3236
185909424938 rs1234081668 N.D. synonymousCArg [R]1237
contig referenceAArg [R]1237
185909425939 rs530178194 0.001byClusterbyFreqWith1000GenomeData0.0016 missenseTIle [I]2237
contig referenceGArg [R]2237
185909426940 rs768091506 0.000 missenseTSer [S]3237
contig referenceAArg [R]3237
185909430944 rs1378041530 N.D. missenseGAla [A]1239
contig referenceCPro [P]1239
185909433947 rs1261669184 N.D. missenseGVal [V]1240
contig referenceTPhe [F]1240
185909434948 rs1241896391 N.D. missenseCSer [S]2240
contig referenceTPhe [F]2240
185909435949 rs773970080 0.000byFreq missenseGLeu [L]3240
contig referenceTPhe [F]3240
185909444958 rs1315586673 N.D. missenseAArg [R]3243
contig referenceCSer [S]3243
185909447961 rs761514053 0.000 synonymousALeu [L]3244
contig referenceGLeu [L]3244
185909455969 rs772423456 0.000 missenseGGly [G]2247
contig referenceTVal [V]2247
185909457971 rs34162530 N.D. frame shiftCCys [C]1249
contig reference-Val [V]1249
185909460974 rs1384986770 N.D. missenseAMet [M]1249
contig referenceGVal [V]1249
185909461975 rs1330862428 N.D. missenseCAla [A]2249
contig referenceTVal [V]2249
185909462976 rs1336424088 N.D. synonymousAVal [V]3249
contig referenceGVal [V]3249
185909470984 rs1446208742 N.D. missenseAAsn [N]2252
missenseCThr [T]2252
contig referenceGSer [S]2252
185909471985 rs1425645418 N.D. synonymousCSer [S]3252
contig referenceTSer [S]3252
185909478992 rs1305231106 N.D. missenseCPro [P]1255
contig referenceTSer [S]1255
185909479993 rs1307182815 N.D. missenseTPhe [F]2255
contig referenceCSer [S]2255
185909482996 rs773573352 0.000 missenseTLeu [L]2256
contig referenceCPro [P]2256
185909484998 rs140971270 0.000byClusterbyFreq missenseGVal [V]1257
contig referenceAMet [M]1257
185909485999 rs1265200872 N.D. missenseCThr [T]2257
contig referenceTMet [M]2257
1859094861000 rs1354731278 N.D. missenseTIle [I]3257
contig referenceGMet [M]3257
1859094881002 rs1198067285 N.D. missenseCThr [T]2258
contig referenceTIle [I]2258
1859094961010 rs201263871 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]1261
contig referenceCArg [R]1261
1859094971011 rs753817944 0.000byClusterbyFreq missenseAHis [H]2261
missenseTLeu [L]2261
contig referenceGArg [R]2261
1859094981012 rs759626331 0.000 synonymousTArg [R]3261
contig referenceCArg [R]3261
1859095001014 rs60502467 0.003byClusterbyFreqWith1000GenomeData0.0040 missenseCThr [T]2262
missenseGSer [S]2262
contig referenceAAsn [N]2262
1859095031017 rs1446034650 N.D. missenseTLeu [L]2263
contig referenceCPro [P]2263
1859116741023 rs1174339835 N.D. missenseAGlu [E]2265
contig referenceGGly [G]2265
1859116751024 rs199958809 0.000byClusterWith1000GenomeData0.0002 synonymousTGly [G]3265
contig referenceGGly [G]3265
1859116771026 rs771236890 0.000 missenseCThr [T]2266
contig referenceALys [K]2266
1859116791028 rs373682172 0.000byClusterbyFreq missenseGVal [V]1267
synonymousTLeu [L]1267
contig referenceCLeu [L]1267
1859116831032 rs765400844 0.000byFreq missenseCThr [T]2268
contig referenceTIle [I]2268
1859116841033 rs1400249064 N.D. synonymousTIle [I]3268
contig referenceAIle [I]3268
1859116891038 rs775714638 0.000 missenseCThr [T]2270
missenseGArg [R]2270
contig referenceALys [K]2270
1859116911040 rs1299137273 N.D. missenseAArg [R]1271
contig referenceGGly [G]1271
1859116931042 rs1478551723 N.D. synonymousGGly [G]3271
contig referenceAGly [G]3271
1859116941043 rs185991662 0.000byClusterWith1000GenomeData0.0002 missenseGVal [V]1272
contig referenceTPhe [F]1272
1859116971046 rs376944712 0.000 missenseASer [S]1273
contig referenceGGly [G]1273
1859116981047 rs763207902 0.000 missenseAAsp [D]2273
contig referenceGGly [G]2273
1859117001049 rs1031139241 N.D. synonymousTLeu [L]1274
contig referenceCLeu [L]1274
1859117011050 rs764433934 0.000 missenseCPro [P]2274
contig referenceTLeu [L]2274
1859117041053 rs368798833 0.000byCluster missenseCPro [P]2275
missenseGArg [R]2275
contig referenceAHis [H]2275
1859117071056 rs1254908162 N.D. missenseGGly [G]2276
contig referenceAGlu [E]2276
1859117111060 rs371177896 N.D. synonymousGLeu [L]3277
contig referenceALeu [L]3277
1859117141063 rs755917071 0.000 missenseTPhe [F]3278
contig referenceALeu [L]3278
1859117151064 rs766145490 0.000byFreq missenseGAsp [D]1279
contig referenceAAsn [N]1279
1859117161065 rs753811546 0.000 missenseGSer [S]2279
contig referenceAAsn [N]2279
1859117171066 rs754916185 0.000byFreq synonymousCAsn [N]3279
contig referenceTAsn [N]3279
1859117181067 rs373258236 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGVal [V]1280
contig referenceAIle [I]1280
1859117261075 rs747683418 0.000 missenseALys [K]3282
contig referenceCAsn [N]3282
1859117301079 rs758009370 0.000 missenseAThr [T]1284
missenseCPro [P]1284
contig referenceGAla [A]1284
1859117331082 rs777446811 0.000byFreq missenseGGlu [E]1285
contig referenceALys [K]1285
1859117361085 rs376875658 0.000byClusterbyFreq missenseAIle [I]1286
contig referenceGVal [V]1286
1859117371086 rs771311047 0.000 missenseCAla [A]2286
contig referenceTVal [V]2286
1859117411090 rs138455877 0.001byClusterbyFreq synonymousAVal [V]3287
contig referenceGVal [V]3287
1859117451094 rs144384070 0.001byClusterbyFreqWith1000GenomeData0.0018 missenseAMet [M]1289
contig referenceGVal [V]1289
1859117501099 rs1398604177 N.D. synonymousGLys [K]3290
contig referenceALys [K]3290
1859117511100 rs770434986 0.000 missenseALys [K]1291
contig referenceGGlu [E]1291
1859117531102 rs1294862889 N.D. synonymousAGlu [E]3291
contig referenceGGlu [E]3291
1859117541103 rs1025539122 N.D. missenseAThr [T]1292
contig referenceCPro [P]1292
1859117551104 rs1368838756 N.D. missenseTLeu [L]2292
contig referenceCPro [P]2292
1859117561105 rs1386728486 N.D. synonymousGPro [P]3292
contig referenceAPro [P]3292
1859117641113 rs775661464 0.000 missenseAGlu [E]2295
contig referenceGGly [G]2295
1859117681117 rs763154772 0.000byFreq missenseAIle [I]3296
contig referenceGMet [M]3296
1859117791128 rs371558969 0.000byCluster missenseCThr [T]2300
contig referenceALys [K]2300
1859117801129 rs1240739375 N.D. synonymousALys [K]3300
contig referenceGLys [K]3300
1859223831134 rs1237680654 N.D. nonsenseG2302
contig referenceCSer [S]2302
1859223861137 rs1438039682 N.D. missenseCThr [T]2303
contig referenceGSer [S]2303
1859223921143 rs1185701219 N.D. missenseAGlu [E]2305
contig referenceGGly [G]2305
1859223991150 rs921529214 N.D. synonymousTHis [H]3307
contig referenceCHis [H]3307
1859224061157 rs746256161 0.000 missenseTCys [C]1310
contig referenceCArg [R]1310
1859224071158 rs770383703 0.000 missenseAHis [H]2310
missenseTLeu [L]2310
contig referenceGArg [R]2310
1859224131164 rs780675662 0.000byFreq missenseGSer [S]2312
missenseTIle [I]2312
contig referenceCThr [T]2312
1859224211172 rs148355402 0.000byClusterbyFreq missenseGGly [G]1315
contig referenceASer [S]1315
1859224231174 rs774300168 0.000 synonymousCSer [S]3315
contig referenceTSer [S]3315
1859224241175 rs1020285138 N.D. missenseGAla [A]1316
contig referenceAThr [T]1316
1859224251176 rs762039811 0.000byFreq missenseGSer [S]2316
missenseTIle [I]2316
contig referenceCThr [T]2316
1859224261177 rs1215042508 N.D. synonymousCThr [T]3316
contig referenceTThr [T]3316
1859224291180 rs1331368199 N.D. synonymousCIle [I]3317
contig referenceTIle [I]3317
1859224311182 rs1457658031 N.D. missenseGGly [G]2318
contig referenceAAsp [D]2318
1859224361187 rs776450081 0.000 nonsenseT1320
contig referenceCArg [R]1320
1859224371188 rs140296295 0.001byClusterbyFreq missenseAGln [Q]2320
contig referenceGArg [R]2320
1859224391190 rs1383798346 N.D. missenseAThr [T]1321
contig referenceGAla [A]1321
1859224421193 rs765061984 0.000 missenseASer [S]1322
contig referenceGGly [G]1322
1859224431194 rs752613366 0.000 missenseAAsp [D]2322
missenseTVal [V]2322
contig referenceGGly [G]2322
1859224511202 rs370021314 0.000byClusterbyFreq nonsenseT1325
contig referenceCArg [R]1325
1859224521203 rs202206115 0.000byClusterbyFreq missenseAGln [Q]2325
contig referenceGArg [R]2325
1859224531204 rs1319862202 N.D. synonymousGArg [R]3325
contig referenceAArg [R]3325
1859224561207 rs1412086357 N.D. synonymousALys [K]3326
contig referenceGLys [K]3326
1859224611212 rs751043199 0.000 missenseAAsn [N]2328
contig referenceCThr [T]2328
1859224621213 rs756883609 0.000 synonymousGThr [T]3328
contig referenceCThr [T]3328
1859224661217 rs780737748 0.000byFreq missenseCHis [H]1330
contig referenceGAsp [D]1330
1859224681219 rs1421029570 N.D. synonymousTAsp [D]3330
contig referenceCAsp [D]3330
1859224701221 rs750140043 0.000 missenseCSer [S]2331
contig referenceTPhe [F]2331
1859224791230 rs868658018 N.D.byCluster frame shift-Ala [A]2335
contig referenceCAGTVal [V]2335
1859224821233 rs138572318 0.000byClusterbyFreqWith1000GenomeData missenseAAsp [D]2335
contig referenceTVal [V]2335
1859224831234 rs1483049114 N.D. synonymousTVal [V]3335
contig referenceCVal [V]3335
1859224881239 rs1180438359 N.D. missenseALys [K]2337
missenseTIle [I]2337
contig referenceGArg [R]2337
1859224901241 rs769155073 N.D. missenseAThr [T]1338
contig referenceCPro [P]1338
1859224921243 rs745928751 0.000 frame shiftTTGCLeu [L]3339
contig reference-Val [V]3339
1859224971248 rs1448560749 N.D. missenseGArg [R]2340
contig referenceAGln [Q]2340
1859233921253 rs750096748 0.000 missenseGVal [V]1342
contig referenceAIle [I]1342
1859233961257 rs375958638 0.000byCluster missenseGArg [R]2343
contig referenceCPro [P]2343
1859234021263 rs780510051 0.000 missenseGCys [C]2345
contig referenceATyr [Y]2345
1859234041265 rs998307280 N.D. missenseTLeu [L]1346
contig referenceGVal [V]1346
1859234051266 rs1275487580 N.D. missenseCAla [A]2346
contig referenceTVal [V]2346
1859234061267 rs754279430 0.000 synonymousGVal [V]3346
contig referenceAVal [V]3346
1859234071268 rs1217688063 N.D. synonymousTLeu [L]1347
contig referenceCLeu [L]1347
1859234081269 rs1438662233 N.D. frame shift-Arg [R]2347
contig referenceTLeu [L]2347
1859234091270 rs755473370 0.000 synonymousTLeu [L]3347
contig referenceGLeu [L]3347
1859234111272 rs779260631 0.000 missenseCPro [P]2348
contig referenceTLeu [L]2348
1859234131274 rs772093006 0.000 -1349
1859234141275 rs1284365077 N.D. missenseGSer [S]2349
contig referenceAAsn [N]2349
1859234171278 rs755179552 N.D. missenseGSer [S]2350
contig referenceCThr [T]2350
1859234211282 rs368438662 0.000byClusterbyFreq synonymousCSer [S]3351
contig referenceTSer [S]3351
1859234281289 rs1200259958 N.D. missenseCPro [P]1354
contig referenceTSer [S]1354
1859234321293 rs1323164867 N.D. missenseTIle [I]2355
contig referenceCThr [T]2355
1859234381299 rs758390967 0.000byFreq missenseAAsp [D]2357
missenseGGly [G]2357
contig referenceCAla [A]2357
1859234401301 rs372559076 0.000byClusterbyFreq missenseGGly [G]1358
contig referenceAArg [R]1358
1859234411302 rs773410580 N.D. missenseALys [K]2358
contig referenceGArg [R]2358
1859234421303 rs747164340 0.000 missenseCSer [S]3358
contig referenceAArg [R]3358
1859234431304 rs771152741 0.000 missenseGVal [V]1359
contig referenceAIle [I]1359
1859234481309 rs780540470 0.000 -3362
1859234511312 rs775215428 0.000 synonymousALeu [L]3361
contig referenceTLeu [L]3361
1859234641325 rs147355006 0.000byCluster missenseCArg [R]1366
contig referenceASer [S]1366
1859234651326 rs139717952 0.000 missenseAAsn [N]2366
contig referenceGSer [S]2366
1859234691330 rs768534589 0.000byFreq synonymousTIle [I]3367
contig referenceCIle [I]3367
1859234721333 rs41317461 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGSer [S]3368
contig referenceASer [S]3368
1859234741335 rs761876647 0.000 missenseAGlu [E]2369
contig referenceGGly [G]2369
1859234791340 rs1324205323 N.D. missenseCPro [P]1371
contig referenceTSer [S]1371
1859234801341 rs767069764 0.000 missenseGCys [C]2371
contig referenceCSer [S]2371
1859234921353 rs1187819671 N.D. missenseCThr [T]2375
contig referenceTIle [I]2375
1859234941355 rs1005677373 N.D. missenseGAla [A]1376
missenseTSer [S]1376
contig referenceCPro [P]1376
1859235021363 rs772863513 0.000byFreq missenseCAsn [N]3378
synonymousGLys [K]3378
contig referenceALys [K]3378
1859235041365 rs1311567045 N.D. missenseGCys [C]2379
contig referenceATyr [Y]2379
1859235091370 rs1249731889 N.D. missenseGAla [A]1381
contig referenceCPro [P]1381
1859235101371 rs760356372 0.000byCluster missenseAGln [Q]2381
missenseTLeu [L]2381
contig referenceCPro [P]2381
1859235111372 rs766163275 0.000byFreq synonymousTPro [P]3381
contig referenceAPro [P]3381
1859235121373 rs753588061 0.000 missenseTTyr [Y]1382
contig referenceCHis [H]1382
1859235131374 rs1358956995 N.D. missenseGArg [R]2382
contig referenceAHis [H]2382
1859235151376 rs755279440 0.000 missenseGGly [G]1383
contig referenceCArg [R]1383
1859235161377 rs765695227 0.000byFreq missenseAGln [Q]2383
contig referenceGArg [R]2383
1859235171378 rs1412543253 N.D. synonymousTArg [R]3383
contig referenceAArg [R]3383
1859235181379 rs753135544 0.000 missenseGGlu [E]1384
contig referenceALys [K]1384
1859235201381 rs151284138 0.002byClusterbyFreqWith1000GenomeData0.0036 synonymousGLys [K]3384
contig referenceALys [K]3384
1859235211382 rs1239485187 N.D. missenseTSer [S]1385
contig referenceCPro [P]1385
1859235251386 rs1439894784 N.D. missenseGCys [C]2386
contig referenceATyr [Y]2386
1859235301391 rs1220826224 N.D. missenseGVal [V]1388
contig referenceAIle [I]1388
1859235321393 rs1177665945 N.D. missenseGMet [M]3388
contig referenceAIle [I]3388
1859235331394 rs777770411 0.000byFreq missenseCArg [R]1389
contig referenceTTrp [W]1389
1859235371398 rs1473690593 N.D. missenseGSer [S]2390
contig referenceAAsn [N]2390
1859235391400 rs747111292 0.000byFreq missenseCLeu [L]1391
contig referenceAIle [I]1391
1859235511412 rs1274261985 N.D. missenseAIle [I]1395
contig referenceGVal [V]1395
1859235571418 rs201214008 0.000byClusterWith1000GenomeData0.0002 missenseAThr [T]1397
missenseGAla [A]1397
contig referenceCPro [P]1397
1859235591420 rs148736433 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousGPro [P]3397
contig referenceAPro [P]3397
1859235601421 rs1319018998 N.D. missenseGAsp [D]1398
contig referenceAAsn [N]1398
1859235711432 rs1434782051 N.D. missenseGLeu [L]3401
contig referenceCPhe [F]3401
1859235751436 rs781359511 0.000 missenseAIle [I]1403
missenseGVal [V]1403
contig referenceCLeu [L]1403
1859235761437 rs1401187713 N.D. missenseCPro [P]2403
contig referenceTLeu [L]2403
1859235771438 rs369235663 0.000byCluster synonymousTLeu [L]3403
contig referenceCLeu [L]3403
1859235811442 rs1307418381 N.D. missenseCLeu [L]1405
contig referenceGVal [V]1405
1859235861447 rs1413210275 N.D. synonymousCThr [T]3406
contig referenceAThr [T]3406
1859235881449 rs1342498084 N.D. missenseAAsp [D]2407
contig referenceGGly [G]2407
1859235911452 rs1245900443 N.D. missenseGCys [C]2408
contig referenceATyr [Y]2408
1859235921453 rs373089927 0.000byClusterbyFreq synonymousCTyr [Y]3408
contig referenceTTyr [Y]3408
1859235931454 rs375782105 0.000byClusterbyFreq missenseAAsn [N]1409
missenseCHis [H]1409
missenseTTyr [Y]1409
contig referenceGAsp [D]1409
1859235941455 rs1449760506 N.D. missenseGGly [G]2409
contig referenceAAsp [D]2409
1859236011462 rs747978883 0.000byFreq synonymousCAsp [D]3411
contig referenceTAsp [D]3411
1859236061467 rs200329489 0.000byClusterWith1000GenomeData0.0002 missenseTPhe [F]2413
contig referenceATyr [Y]2413
1859236161477 rs1259391818 N.D. missenseCHis [H]3416
contig referenceGGln [Q]3416
1859236201481 rs199699976 0.000byClusterWith1000GenomeData missenseAIle [I]1418
contig referenceGVal [V]1418
1859236261487 rs1197612501 N.D. missenseGGly [G]1420
contig referenceASer [S]1420
1859236281489 rs1247913580 N.D. synonymousCSer [S]3420
contig referenceTSer [S]3420
1859236301491 rs1443795594 N.D. missenseCAla [A]2421
contig referenceTVal [V]2421
1859236331494 rs1187955244 N.D. missenseTPhe [F]2422
contig referenceCSer [S]2422
1859236341495 rs565658664 0.004byClusterbyFreqWith1000GenomeData0.0050 synonymousGSer [S]3422
contig referenceCSer [S]3422
1859236411502 rs766038716 0.000byFreq missenseGGly [G]1425
missenseTCys [C]1425
contig referenceASer [S]1425
1859236421503 rs1172785092 N.D. missenseAAsn [N]2425
contig referenceGSer [S]2425
1859236441505 rs759303781 0.000byFreq missenseCLeu [L]1426
contig referenceAIle [I]1426
1859250471515 rs1359760902 N.D. missenseTVal [V]2429
contig referenceAAsp [D]2429
1859250491517 rs1288409497 N.D. missenseTSer [S]1430
contig referenceGAla [A]1430
1859250501518 rs770557206 0.000byFreq missenseTVal [V]2430
contig referenceCAla [A]2430
1859250511519 rs1299197306 N.D. synonymousCAla [A]3430
contig referenceTAla [A]3430
1859250531521 rs1329580497 N.D. missenseTLeu [L]2431
contig referenceCPro [P]2431
1859250541522 rs1340412479 N.D. synonymousAPro [P]3431
synonymousTPro [P]3431
contig referenceCPro [P]3431
1859250581526 rs1381049052 N.D. missenseAIle [I]1433
contig referenceGVal [V]1433
1859250621530 rs369085610 0.000byCluster missenseTMet [M]2434
contig referenceCThr [T]2434
1859250631531 rs759056349 0.000 synonymousAThr [T]3434
contig referenceGThr [T]3434
1859250721540 rs769511488 0.000 missenseTAsp [D]3437
contig referenceGGlu [E]3437
1859250761544 rs1255113798 N.D. missenseGAla [A]1439
contig referenceAThr [T]1439
1859250771545 rs1345296144 N.D. missenseAAsn [N]2439
contig referenceCThr [T]2439
1859250791547 rs933403027 N.D. missenseTSer [S]1440
contig referenceCPro [P]1440
1859250801548 rs1286500553 N.D. missenseGArg [R]2440
contig referenceCPro [P]2440
1859250841552 rs1266093392 N.D. synonymousGGly [G]3441
contig referenceAGly [G]3441
1859250891557 rs1487908761 N.D. missenseCSer [S]2443
missenseGCys [C]2443
contig referenceATyr [Y]2443
1859250901558 rs1184746173 N.D. synonymousCTyr [Y]3443
contig referenceTTyr [Y]3443
1859250981566 rs373879370 0.000byClusterbyFreq missenseTLeu [L]2446
contig referenceCPro [P]2446
1859250991567 rs763275429 0.000 synonymousAPro [P]3446
contig referenceGPro [P]3446
1859251021570 rs377067569 0.000byCluster synonymousTGly [G]3447
contig referenceCGly [G]3447
1859251051573 rs145612988 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGGln [Q]3448
contig referenceAGln [Q]3448
1859251151583 rs369384351 0.000byCluster missenseCPro [P]1452
contig referenceTSer [S]1452
1859251161584 rs373157669 0.000byCluster missenseTPhe [F]2452
contig referenceCSer [S]2452
1859251201588 rs141394172 0.000byCluster synonymousGVal [V]3453
contig referenceTVal [V]3453
1859251231591 rs1360352502 N.D. missenseAGlu [E]3454
synonymousTAsp [D]3454
contig referenceCAsp [D]3454
1859251241592 rs1182902934 N.D. missenseGGly [G]1455
contig referenceASer [S]1455
1859251251593 rs947678407 N.D. missenseAAsn [N]2455
contig referenceGSer [S]2455
1859251271595 rs1483298808 N.D. missenseGVal [V]1456
contig referenceCLeu [L]1456
1859251281596 rs750537862 0.000byFreq missenseCPro [P]2456
contig referenceTLeu [L]2456
1859251351603 rs1046078795 N.D. synonymousGPro [P]3458
contig referenceCPro [P]3458
1859251391607 rs1295872725 N.D. missenseGAla [A]1460
contig referenceAThr [T]1460
1859251451613 rs1392246501 N.D. missenseTCys [C]1462
contig referenceASer [S]1462
1859251471615 rs138881931 0.000 synonymousTSer [S]3462
contig referenceCSer [S]3462
1859251511619 rs756249265 0.000 missenseCLeu [L]1464
contig referenceGVal [V]1464
1859251521620 rs1208366757 N.D. missenseCAla [A]2464
contig referenceTVal [V]2464
1859251531621 rs1302098971 N.D. synonymousAVal [V]3464
synonymousTVal [V]3464
contig referenceCVal [V]3464
1859251541622 rs1275151861 N.D. frame shift-Tyr [Y]1465
contig reference(11bp)Arg [R]1465
1859251551623 rs780290240 0.000 missenseALys [K]2465
missenseTIle [I]2465
contig referenceGArg [R]2465
1859251581626 rs1229303921 N.D. missenseGSer [S]2466
contig referenceAAsn [N]2466
1859251591627 rs149417407 0.000byClusterbyFreq synonymousCAsn [N]3466
contig referenceTAsn [N]3466
1859251601628 rs1309668364 N.D. missenseAArg [R]1467
contig referenceGGly [G]1467
1859251631631 rs142754121 0.002byClusterbyFreqWith1000GenomeData0.0010 missenseAIle [I]1468
contig referenceGVal [V]1468
1859251661634 rs777774191 0.000 missenseGAla [A]1469
contig referenceAThr [T]1469
1859251671635 rs200897962 0.000byClusterbyFreq missenseALys [K]2469
missenseTIle [I]2469
contig referenceCThr [T]2469
1859251681636 rs771009311 0.000 synonymousGThr [T]3469
contig referenceAThr [T]3469
1859251691637 rs747920607 0.000byFreq missenseTPhe [F]1470
contig referenceCLeu [L]1470
1859251701638 rs888314012 N.D. missenseGArg [R]2470
contig referenceTLeu [L]2470
1859251721640 rs1441759884 N.D. missenseAArg [R]1471
contig referenceGGly [G]1471
1859251761644 rs1005462500 N.D. missenseGGly [G]2472
contig referenceTVal [V]2472
1859251821650 rs537908931 0.000With1000GenomeData0.0002 missenseGArg [R]2474
contig referenceAGln [Q]2474
1859251841652 rs745417285 0.000 missenseCHis [H]1475
contig referenceTTyr [Y]1475
1859285461660 rs745843483 0.000 missenseTAsn [N]3477
contig referenceALys [K]3477
1859285491663 rs745831891 N.D. synonymousGGlu [E]3478
contig referenceAGlu [E]3478
1859285571671 rs1035479793 N.D. missenseCThr [T]2481
contig referenceGSer [S]2481
1859285581672 rs1169237022 N.D. synonymousCSer [S]3481
contig referenceTSer [S]3481
1859285591673 rs772229478 N.D. missenseAMet [M]1482
contig referenceGVal [V]1482
1859285791693 rs755638541 0.000 synonymousALys [K]3488
contig referenceGLys [K]3488
1859285801694 rs779498240 0.000byFreq missenseTPhe [F]1489
contig referenceGVal [V]1489
1859285811695 rs748873506 0.000 missenseCAla [A]2489
contig referenceTVal [V]2489
1859285851699 rs770684209 0.000 frame shift-Val [V]3491
contig referenceTTLeu [L]3491
1859285871701 rs1272402538 N.D. missenseCSer [S]2491
missenseGTrp [W]2491
contig referenceTLeu [L]2491
1859285881702 rs1305962921 N.D. missenseTPhe [F]3491
contig referenceGLeu [L]3491
1859285931707 rs1424235256 N.D. missenseGGly [G]2493
contig referenceAAsp [D]2493
1859285941708 rs189175231 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTAsp [D]3493
contig referenceCAsp [D]3493
1859285951709 rs139490011 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseALys [K]1494
contig referenceGGlu [E]1494
1859285991713 rs748479306 0.000 missenseCAla [A]2495
contig referenceGGly [G]2495
1859286051719 rs1238662425 N.D. missenseGCys [C]2497
contig referenceATyr [Y]2497
1859286131727 rs1200634139 N.D. missenseGVal [V]1500
contig referenceAIle [I]1500
1859286151729 rs1186268749 N.D. synonymousCIle [I]3500
contig referenceTIle [I]3500
1859286161730 rs772369459 0.000 missenseTSer [S]1501
contig referenceGAla [A]1501
1859286181732 rs1014759026 N.D. synonymousAAla [A]3501
synonymousCAla [A]3501
contig referenceTAla [A]3501
1859286191733 rs1170719251 N.D. missenseAIle [I]1502
contig referenceGVal [V]1502
1859286211735 rs1418235154 N.D. synonymousTVal [V]3502
contig referenceCVal [V]3502
1859286271741 rs1407831457 N.D. synonymousCSer [S]3504
contig referenceTSer [S]3504
1859286281742 rs773752925 0.000 missenseAThr [T]1505
contig referenceGAla [A]1505
1859286361750 rs368547640 0.000byCluster synonymousCThr [T]3507
contig referenceTThr [T]3507
1859286391753 rs761149473 0.000 synonymousGGly [G]3508
contig referenceAGly [G]3508
1859286401754 rs531770127 0.000byFreqWith1000GenomeData0.0002 missenseTTrp [W]1509
contig referenceCArg [R]1509
1859286411755 rs141775073 0.000byClusterbyFreq missenseAGln [Q]2509
contig referenceGArg [R]2509
1859286421756 rs1311001822 N.D. synonymousAArg [R]3509
contig referenceGArg [R]3509
1859286431757 rs981918593 N.D. missenseAThr [T]1510
contig referenceGAla [A]1510
1859286461760 rs759786763 0.000byFreq nonsenseT1511
missenseGGlu [E]1511
contig referenceCGln [Q]1511
1859286491763 rs753010272 0.000 missenseGAla [A]1512
contig referenceAThr [T]1512
1859286501764 rs149707772 0.000byClusterbyFreq missenseTIle [I]2512
contig referenceCThr [T]2512
1859286511765 rs1333880485 N.D. synonymousGThr [T]3512
contig referenceAThr [T]3512
1859286561770 rs767275193 0.000 missenseATyr [Y]2514
missenseCSer [S]2514
contig referenceTPhe [F]2514
1859286601774 rs750371257 0.000byFreq synonymousTAsp [D]3515
contig referenceCAsp [D]3515
1859286611775 rs199966462 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseAIle [I]1516
contig referenceGVal [V]1516
1859286631777 rs779490577 0.000 synonymousGVal [V]3516
contig referenceAVal [V]3516
1859286661780 rs568654159 0.000With1000GenomeData0.0002 synonymousGSer [S]3517
contig referenceASer [S]3517
1859335501783 rs763153027 0.000 synonymousAGlu [E]3518
contig referenceGGlu [E]3518
1859335511784 rs1453387592 N.D. missenseTSer [S]1519
contig referenceCPro [P]1519
1859335521785 rs1322768198 N.D. missenseTLeu [L]2519
contig referenceCPro [P]2519
1859335531786 rs767276797 0.000byFreq synonymousAPro [P]3519
contig referenceCPro [P]3519
1859335581791 rs750199952 0.000byFreq missenseGArg [R]2521
missenseTLeu [L]2521
contig referenceCPro [P]2521
1859335591792 rs766271778 0.000byFreq synonymousAPro [P]3521
synonymousCPro [P]3521
synonymousTPro [P]3521
contig referenceGPro [P]3521
1859335601793 rs778460272 0.000 missenseAIle [I]1522
missenseTPhe [F]1522
contig referenceGVal [V]1522
1859335641797 rs186749819 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCThr [T]2523
contig referenceTIle [I]2523
1859335771810 rs757996230 0.000 synonymousTAsn [N]3527
contig referenceCAsn [N]3527
1859335781811 rs139589167 0.000byClusterbyFreq missenseGAsp [D]1528
contig referenceAAsn [N]1528
1859335821815 rs747369636 0.000byFreq missenseCAla [A]2529
missenseGGly [G]2529
contig referenceTVal [V]2529
1859335841817 rs781759837 0.000 missenseGAla [A]1530
contig referenceAThr [T]1530
1859335851818 rs189951644 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGArg [R]2530
missenseTIle [I]2530
contig referenceCThr [T]2530
1859335871820 rs1377950211 N.D. missenseAIle [I]1531
contig referenceGVal [V]1531
1859335891822 rs1238703121 N.D. synonymousTVal [V]3531
contig referenceCVal [V]3531
1859335911824 rs775716643 0.000byFreq missenseTIle [I]2532
contig referenceCThr [T]2532
1859335921825 rs1390448195 N.D. synonymousGThr [T]3532
contig referenceTThr [T]3532
1859335961829 rs1359023225 N.D. missenseCArg [R]1534
contig referenceGGly [G]1534
1859336031836 rs763177925 0.000byFreq missenseALys [K]2536
missenseCThr [T]2536
missenseTIle [I]2536
contig referenceGArg [R]2536
1859336111844 rs768790603 0.000 synonymousCLeu [L]1539
contig referenceTLeu [L]1539
1859336201853 rs982976924 N.D. missenseGVal [V]1542
contig referenceCLeu [L]1542
1859336241857 rs774672660 0.000 missenseCThr [T]2543
contig referenceTIle [I]2543
1859336251858 rs1211287779 N.D. synonymousAIle [I]3543
contig referenceCIle [I]3543
1859336291862 rs760363076 0.000byFreq missenseGGly [G]1545
contig referenceASer [S]1545
1859336321865 rs766218524 0.000 missenseAThr [T]1546
contig referenceGAla [A]1546
1859336331866 rs753767956 0.000byFreq missenseAGlu [E]2546
missenseTVal [V]2546
contig referenceCAla [A]2546
1859336341867 rs368342167 0.000byClusterbyFreq synonymousAAla [A]3546
contig referenceGAla [A]3546
1859336441877 rs752166735 0.000byFreq missenseTTyr [Y]1550
contig referenceAAsn [N]1550
1859336461879 rs1165651997 N.D. missenseALys [K]3550
contig referenceTAsn [N]3550
1859336511884 rs200601125 0.000byClusterbyFreq missenseAAsn [N]2552
contig referenceCThr [T]2552
1859336601893 rs777264684 0.000 missenseCThr [T]2555
contig referenceGArg [R]2555
1859336611894 rs1172919370 N.D. synonymousAArg [R]3555
contig referenceGArg [R]3555
1859336721905 rs1401257533 N.D. missenseTVal [V]2559
contig referenceAAsp [D]2559
1859336731906 rs751277673 0.000 missenseGGlu [E]3559
contig referenceTAsp [D]3559
1859336781911 rs1327245545 N.D. missenseCThr [T]2561
contig referenceGArg [R]2561
1859336791912 rs1278087925 N.D. missenseCSer [S]3561
contig referenceAArg [R]3561
1859336811914 rs757686675 0.000byFreq missenseAGln [Q]2562
contig referenceTLeu [L]2562
1859336831916 rs781733335 0.000 missenseAThr [T]1563
contig referenceGAla [A]1563
1859336841917 rs746311658 0.000 missenseAGlu [E]2563
contig referenceCAla [A]2563
1859336931926 rs770438607 0.000byFreq missenseAGlu [E]2566
missenseTVal [V]2566
contig referenceCAla [A]2566
1859336941927 rs780133213 0.000byFreq synonymousAAla [A]3566
contig referenceGAla [A]3566
1859337051938 rs749295359 0.000 missenseAAsn [N]2570
missenseTIle [I]2570
contig referenceCThr [T]2570
1859337061939 rs1274762838 N.D. synonymousAThr [T]3570
contig referenceCThr [T]3570
1859337151948 rs1339630695 N.D. synonymousCAsn [N]3573
contig referenceTAsn [N]3573
1859337201953 rs1398141306 N.D. missenseTLeu [L]2575
contig referenceCSer [S]2575
1859337211954 rs768828921 0.000 synonymousGSer [S]3575
contig referenceASer [S]3575
1859337221955 rs1248147183 N.D. synonymousCLeu [L]1576
contig referenceTLeu [L]1576
1859337351968 rs533744681 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]2580
missenseCThr [T]2580
contig referenceGSer [S]2580
1859337351968 rs1443985032 N.D. frame shift-Glu [E]2581
contig referenceGTVal [V]2581
1859337371970 rs1202555814 N.D. missenseTLeu [L]1581
contig referenceGVal [V]1581
1859337451978 rs1269087469 N.D. synonymousTPhe [F]3583
contig referenceCPhe [F]3583
1859337461979 rs1256640835 N.D. frame shift-Thr [T]1584
contig referenceAAsn [N]1584
1859337471980 rs143393655 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGSer [S]2584
contig referenceAAsn [N]2584
1859337481981 rs776421969 0.000byFreq synonymousTAsn [N]3584
contig referenceCAsn [N]3584
1859337491982 rs1370660134 N.D. missenseAAsn [N]1585
contig referenceGAsp [D]1585
1859337511984 rs371997839 0.000byClusterbyFreq missenseAGlu [E]3585
contig referenceTAsp [D]3585
1859337561989 rs1460158700 N.D. missenseTVal [V]2587
contig referenceGGly [G]2587
1859337621995 rs1372089070 N.D. missenseGCys [C]2589
contig referenceATyr [Y]2589
1859337651998 rs908436928 N.D. missenseGArg [R]2590
contig referenceAHis [H]2590
1859337661999 rs1453135953 N.D. synonymousCHis [H]3590
contig referenceTHis [H]3590
1859337682001 rs374528473 N.D. missenseTPhe [F]2591
contig referenceGCys [C]2591
1859337702003 rs765186725 0.000 missenseGVal [V]1592
contig referenceAMet [M]1592
1859337712004 rs1166428538 N.D. missenseCThr [T]2592
contig referenceTMet [M]2592
1859337722005 rs1404633140 N.D. missenseAIle [I]3592
missenseTIle [I]3592
contig referenceGMet [M]3592
1859337752008 rs140611904 0.000byCluster synonymousCVal [V]3593
contig referenceTVal [V]3593
1859337782011 rs933925698 N.D. synonymousCSer [S]3594
contig referenceTSer [S]3594
1859337872020 rs1435651902 N.D. synonymousAGly [G]3597
contig referenceTGly [G]3597
1859337892022 rs1312686179 N.D. missenseAGlu [E]2598
missenseTVal [V]2598
contig referenceGGly [G]2598
1859337962029 rs775541615 0.000byFreq synonymousGSer [S]3600
contig referenceASer [S]3600
1859337972030 rs1187160192 N.D. missenseAThr [T]1601
contig referenceGAla [A]1601
1859337992032 rs762351389 0.000byFreq synonymousTAla [A]3601
contig referenceCAla [A]3601
1859338002033 rs763721030 0.000byFreq missenseAThr [T]1602
missenseTSer [S]1602
contig referenceGAla [A]1602
1859338102043 rs751170118 0.000 missenseGCys [C]2605
contig referenceTPhe [F]2605
1859338112044 rs756976225 0.000 missenseALeu [L]3605
contig referenceCPhe [F]3605
1859338182051 rs767935181 0.000byFreq missenseAMet [M]1608
missenseCLeu [L]1608
contig referenceGVal [V]1608
1859338202053 rs756585754 0.000 synonymousAVal [V]3608
contig referenceGVal [V]3608
1859338222055 rs780402462 0.000byFreq missenseGArg [R]2609
contig referenceAGln [Q]2609
1859338242057 rs1279376337 N.D. missenseCGln [Q]1610
contig referenceGGlu [E]1610
1859625222062 rs755520449 0.000 synonymousGPro [P]3611
contig referenceAPro [P]3611
1859625242064 rs778806670 0.000 missenseTLeu [L]2612
contig referenceCPro [P]2612
1859625262066 rs376173618 0.000byCluster missenseGGlu [E]1613
contig referenceALys [K]1613
1859625332073 rs1393645572 N.D. missenseTIle [I]2615
contig referenceCThr [T]2615
1859625382078 rs533822029 N.D. missenseTLeu [L]1617
contig referenceAMet [M]1617
1859625432083 rs1441870062 N.D. synonymousTPro [P]3618
contig referenceCPro [P]3618
1859625452085 rs373160107 0.000 missenseGArg [R]2619
contig referenceALys [K]2619
1859625522092 rs758510421 0.000 synonymousAGln [Q]3621
contig referenceGGln [Q]3621
1859625532093 rs1389851251 N.D. missenseCPro [P]1622
contig referenceTSer [S]1622
1859625542094 rs1363687582 N.D. missenseTPhe [F]2622
contig referenceCSer [S]2622
185962563