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SNP linked to Gene (geneID:327) 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): 11
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017006286.1plus strandXP_016861775.1forwardNT_022517.19GRCh38.p7<- currently shown
XM_017006285.1plus strandXP_016861774.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
XM_011533663.2plus strandXP_011531965.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
XM_011533662.2plus strandXP_011531964.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
XM_011533661.2plus strandXP_011531963.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
XM_011533660.2plus strandXP_011531962.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
XM_011533659.1plus strandXP_011531961.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
XM_011533658.2plus strandXP_011531960.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
XM_005265098.4plus strandXP_005265155.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
XM_005265097.2plus strandXP_005265154.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
NM_001640.3plus strandNP_001631.3forwardNT_022517.19GRCh38.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_022517.19XM_017006286.1XP_016861775.1forwardplus strand713, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
49674402401 rs748036222 0.000byFreq missenseGVal [V]11
missenseTLeu [L]11
contig referenceAMet [M]11
49674403402 rs1403931342 N.D. missenseCThr [T]21
contig referenceTMet [M]21
49674408407 rs1431250309 N.D. missenseTCys [C]13
contig referenceCArg [R]13
49674409408 rs769586855 0.000 missenseAHis [H]23
missenseCPro [P]23
contig referenceGArg [R]23
49674411410 rs200397475 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseALys [K]14
contig referenceCGln [Q]14
49674413412 rs749137479 0.000 missenseCHis [H]34
contig referenceGGln [Q]34
49674496420 rs1289778306 N.D. missenseAGln [Q]27
contig referenceTLeu [L]27
49674506430 rs1439809064 N.D. synonymousTPro [P]310
contig referenceCPro [P]310
49674507431 rs1003818298 N.D. missenseALys [K]111
contig referenceGGlu [E]111
49674508432 rs1232070837 N.D. missenseTVal [V]211
contig referenceAGlu [E]211
49674514438 rs767520403 0.000 missenseGGly [G]213
contig referenceCAla [A]213
49674516440 rs1185328673 N.D. missenseAThr [T]114
contig referenceGAla [A]114
49674517441 rs201948108 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseAGlu [E]214
missenseTVal [V]214
contig referenceCAla [A]214
49674522446 rs749090824 0.000 -117
49674531455 rs1347832190 N.D. missenseASer [S]119
contig referenceGGly [G]119
49674532456 rs752645089 0.000 missenseAAsp [D]219
contig referenceGGly [G]219
49674533457 rs1421140810 N.D. synonymousTGly [G]319
contig referenceCGly [G]319
49674534458 rs370812363 0.000byCluster missenseAIle [I]120
missenseTPhe [F]120
contig referenceCLeu [L]120
49674538462 rs1327813489 N.D. missenseAAsn [N]221
contig referenceGSer [S]221
49674539463 rs561058861 0.000byFreqWith1000GenomeData0.0002 synonymousTSer [S]321
contig referenceCSer [S]321
49674541465 rs1033553826 N.D. missenseAHis [H]222
missenseTLeu [L]222
contig referenceGArg [R]222
49674542466 rs1339203633 N.D. synonymousGArg [R]322
contig referenceCArg [R]322
49674546470 rs749082305 0.000byFreq missenseTSer [S]124
contig referenceCPro [P]124
49674548472 rs959305239 N.D. synonymousTPro [P]324
contig referenceCPro [P]324
49674549473 rs1436877179 N.D. missenseAThr [T]125
contig referenceGAla [A]125
49674550474 rs757187898 0.000 missenseTVal [V]225
contig referenceCAla [A]225
49674551475 rs980614773 N.D. synonymousAAla [A]325
contig referenceGAla [A]325
49674557481 rs1341626571 N.D. synonymousTSer [S]327
contig referenceCSer [S]327
49674560484 rs1215354860 N.D. synonymousTAla [A]328
contig referenceCAla [A]328
49674563487 rs1010513978 N.D. synonymousTAla [A]329
contig referenceCAla [A]329
49674565489 rs927886980 N.D. missenseTPhe [F]230
contig referenceGCys [C]230
49674567491 rs1205333537 N.D. synonymousTLeu [L]131
contig referenceCLeu [L]131
49674569493 rs1263102132 N.D. synonymousALeu [L]331
contig referenceGLeu [L]331
49674571495 rs35078122 N.D. frame shiftCGly [G]234
contig reference-Glu [E]234
49674571495 rs1332346427 N.D. missenseTVal [V]232
contig referenceGGly [G]232
49674572496 rs1243633367 N.D. synonymousTGly [G]332
contig referenceCGly [G]332
49674574498 rs778641962 0.000 missenseGArg [R]233
contig referenceCPro [P]233
49674575499 rs1181729679 N.D. synonymousAPro [P]333
synonymousTPro [P]333
contig referenceGPro [P]333
49674578502 rs1243314967 N.D. synonymousAGlu [E]334
contig referenceGGlu [E]334
49674584508 rs745522265 0.000 synonymousTThr [T]336
contig referenceCThr [T]336
49674586510 rs1166946022 N.D. missenseTMet [M]237
contig referenceCThr [T]237
49674589513 rs373871160 0.004byClusterbyFreqWith1000GenomeData0.0008 missenseGArg [R]238
contig referenceAGln [Q]238
49674591515 rs1179145786 N.D. missenseCHis [H]139
contig referenceTTyr [Y]139
49674595519 rs1464333348 N.D. missenseCAla [A]240
contig referenceGGly [G]240
49674596520 rs774893757 0.000 synonymousTGly [G]340
contig referenceCGly [G]340
49674597521 rs746569420 0.000byFreq missenseASer [S]141
missenseTCys [C]141
contig referenceGGly [G]141
49674602526 rs770263390 0.000byFreq synonymousGGln [Q]342
contig referenceAGln [Q]342
49674608532 rs946455196 N.D. synonymousAArg [R]344
contig referenceGArg [R]344
49674610534 rs1236113942 N.D. missenseTMet [M]245
contig referenceCThr [T]245
49674611535 rs773763241 0.000byFreq synonymousTThr [T]345
contig referenceGThr [T]345
49674612536 rs763295888 0.000 missenseAMet [M]146
contig referenceGVal [V]146
49674613537 rs1269751079 N.D. missenseCAla [A]246
contig referenceTVal [V]246
49674615539 rs766732050 0.000byFreq missenseTTyr [Y]147
contig referenceCHis [H]147
49674616540 rs1472696056 N.D. missenseGArg [R]247
contig referenceAHis [H]247
49674617541 rs774572192 0.000 missenseAGln [Q]347
contig referenceCHis [H]347
49674619543 rs1263501178 N.D. missenseGSer [S]248
contig referenceCThr [T]248
49674620544 rs759711061 0.000 synonymousAThr [T]348
contig referenceTThr [T]348
49675185548 rs1267813077 N.D. missenseCArg [R]150
contig referenceTTrp [W]150
49675190553 rs1480273886 N.D. synonymousTThr [T]351
contig referenceCThr [T]351
49675192555 rs1197233387 N.D. frame shift-Arg [R]252
contig referenceAGln [Q]252
49675192555 rs1366005814 N.D. frame shiftGGlu [E]253
contig reference-Arg [R]253
49675196559 rs768218483 0.000byFreq synonymousAArg [R]353
contig referenceGArg [R]353
49675205568 rs929988104 N.D. missenseCAsp [D]356
contig referenceAGlu [E]356
49675206569 rs778184432 0.000 missenseTCys [C]157
contig referenceCArg [R]157
49675207570 rs749806253 0.000 missenseAHis [H]257
contig referenceGArg [R]257
49675209572 rs1338453354 N.D. missenseGVal [V]158
contig referenceAMet [M]158
49675211574 rs1426688772 N.D. missenseAIle [I]358
contig referenceGMet [M]358
49675214577 rs1447080558 N.D. missenseTAsp [D]359
contig referenceGGlu [E]359
49675221584 rs577640330 0.000byFreqWith1000GenomeData0.0002 nonsenseT162
contig referenceCArg [R]162
49675222585 rs774550491 0.000 missenseTLeu [L]262
contig referenceGArg [R]262
49675226589 rs759998307 0.000 synonymousTPhe [F]363
contig referenceCPhe [F]363
49675230593 rs772175127 0.000 missenseTCys [C]165
contig referenceCArg [R]165
49675231594 rs775850110 0.000byFreq missenseAHis [H]265
contig referenceGArg [R]265
49675235598 rs141512953 0.000byClusterbyFreq missenseCHis [H]366
synonymousGGln [Q]366
contig referenceAGln [Q]366
49675238601 rs1436332335 N.D. synonymousTTyr [Y]367
contig referenceCTyr [Y]367
49675241604 rs545107059 0.000byFreqWith1000GenomeData0.0002 synonymousALeu [L]368
synonymousCLeu [L]368
contig referenceGLeu [L]368
49675247610 rs780284022 0.000 frame shift-Met [M]371
contig referenceCHis [H]371
49675249612 rs1458960429 N.D. missenseGArg [R]271
contig referenceAHis [H]271
49675253616 rs761871519 0.000byFreq synonymousTAsp [D]372
contig referenceCAsp [D]372
49675254617 rs149686945 0.000byClusterWith1000GenomeData0.0002 missenseAArg [R]173
contig referenceGGly [G]173
49675255618 rs1284706388 N.D. missenseAGlu [E]273
contig referenceGGly [G]273
49675263626 rs980846774 N.D. missenseAMet [M]176
contig referenceGVal [V]176
49675264627 rs750163141 0.000byFreq missenseCAla [A]276
contig referenceTVal [V]276
49675266629 rs758270418 0.000byFreq missenseAMet [M]177
contig referenceGVal [V]177
49675268631 rs1185317122 N.D. synonymousAVal [V]377
contig referenceGVal [V]377
49675271634 rs572051966 0.000byFreqWith1000GenomeData0.0002 synonymousCPhe [F]378
contig referenceTPhe [F]378
49675277640 rs747239559 0.000 frame shiftCCLeu [L]382
contig reference-Ala [A]382
49675278641 rs751224746 0.000byFreq missenseAThr [T]181
missenseTSer [S]181
contig referenceCPro [P]181
49675282645 rs370885638 0.000byClusterbyFreq missenseTVal [V]282
contig referenceCAla [A]282
49675283646 rs1384791242 N.D. synonymousGAla [A]382
contig referenceAAla [A]382
49675284647 rs1456565454 N.D. missenseASer [S]183
contig referenceGGly [G]183
49675291654 rs11554252 N.D.byCluster missenseAAsn [N]285
contig referenceGSer [S]285
49675292655 rs1277176064 N.D. synonymousCSer [S]385
contig referenceTSer [S]385
49675301664 rs201654412 0.000byClusterbyFreqWith1000GenomeData synonymousGThr [T]388
synonymousTThr [T]388
contig referenceCThr [T]388
49675302665 rs768800917 0.000byFreq frame shiftGGly [G]191
frame shiftGGGGGly [G]191
contig reference-Glu [E]191
49675302665 rs779536504 0.000byFreq missenseTTrp [W]189
contig referenceCArg [R]189
49675303666 rs746217177 0.000byFreq missenseAGln [Q]289
missenseCPro [P]289
missenseTLeu [L]289
contig referenceGArg [R]289
49675304667 rs775517620 0.000byFreq synonymousAArg [R]389
synonymousCArg [R]389
contig referenceGArg [R]389
49675305668 rs761002625 0.000 missenseAArg [R]190
contig referenceGGly [G]190
49675306669 rs1452661525 N.D. missenseAGlu [E]290
contig referenceGGly [G]290
49675307670 rs1239360743 N.D. synonymousTGly [G]390
contig referenceGGly [G]390
49675696675 rs1357362844 N.D. missenseGArg [R]292
contig referenceTLeu [L]292
49675701680 rs748233052 0.000 missenseGGly [G]194
contig referenceASer [S]194
49675702681 rs143019542 0.000byClusterbyFreq missenseAAsn [N]294
contig referenceGSer [S]294
49675707686 rs1383679534 N.D. missenseCGln [Q]196
contig referenceGGlu [E]196
49675709688 rs140024139 0.001byClusterbyFreq synonymousAGlu [E]396
contig referenceGGlu [E]396
49675714693 rs1284880994 N.D. missenseTLeu [L]298
contig referenceCPro [P]298
49675715694 rs200989321 0.000byClusterWith1000GenomeData0.0002 synonymousCPro [P]398
contig referenceTPro [P]398
49675717696 rs1208328320 N.D. missenseTLeu [L]299
contig referenceCSer [S]299
49675726705 rs1327356550 N.D. missenseCThr [T]2102
contig referenceTMet [M]2102
49675727706 rs762968019 0.000 missenseAIle [I]3102
contig referenceGMet [M]3102
49675728707 rs1224525569 N.D. missenseGGlu [E]1103
contig referenceALys [K]1103
49675732711 rs1281285359 N.D. missenseGGly [G]2104
contig referenceCAla [A]2104
49675740719 rs144726092 0.000byCluster missenseTCys [C]1107
contig referenceCArg [R]1107
49675741720 rs538171519 0.000byFreqWith1000GenomeData0.0002 missenseAHis [H]2107
contig referenceGArg [R]2107
49675747726 rs762049348 0.000 -2111
49675747726 rs1336227458 N.D. missenseGGly [G]2109
contig referenceCAla [A]2109
49675752731 rs376254151 0.000byCluster missenseASer [S]1111
contig referenceGGly [G]1111
49675755734 rs759386594 0.000byFreq missenseCPro [P]1112
contig referenceAThr [T]1112
49675756735 rs767157178 0.000byFreq missenseTMet [M]2112
contig referenceCThr [T]2112
49675757736 rs752355418 0.000 synonymousAThr [T]3112
synonymousCThr [T]3112
contig referenceGThr [T]3112
49675758737 rs755523074 0.000 missenseASer [S]1113
contig referenceGGly [G]1113
49675759738 rs763682530 0.000 missenseAAsp [D]2113
contig referenceGGly [G]2113
49675760739 rs1456328679 N.D. synonymousTGly [G]3113
contig referenceCGly [G]3113
49675764743 rs750856973 0.000 missenseAArg [R]1115
contig referenceGGly [G]1115
49675775754 rs1422915953 N.D. synonymousALys [K]3118
contig referenceGLys [K]3118
49675776755 rs1382331298 N.D. nonsenseT1119
contig referenceCGln [Q]1119
49675894770 rs1386440443 N.D. missenseAArg [R]1124
contig referenceTTrp [W]1124
49675898774 rs1292273799 N.D. -2126
49675900776 rs1360310485 N.D. nonsenseT1126
contig referenceALys [K]1126
49675904780 rs953117750 N.D. missenseGSer [S]2127
contig referenceAAsn [N]2127
49675905781 rs761286314 0.000byFreq synonymousTAsn [N]3127
contig referenceCAsn [N]3127
49675906782 rs372455516 0.000byClusterbyFreq missenseTTrp [W]1128
contig referenceCArg [R]1128
49675907783 rs752116837 0.000 missenseAGln [Q]2128
contig referenceGArg [R]2128
49675912788 rs1020964079 N.D. missenseTPhe [F]1130
contig referenceCLeu [L]1130
49675913789 rs1239070650 N.D. missenseCPro [P]2130
contig referenceTLeu [L]2130
49675914790 rs1441607894 N.D. synonymousTLeu [L]3130
contig referenceCLeu [L]3130
49675916792 rs1308979519 N.D. missenseGArg [R]2131
contig referenceALys [K]2131
49675919795 rs755332959 0.000byFreq missenseAAsn [N]2132
contig referenceGSer [S]2132
49675920796 rs1224823936 N.D. synonymousTSer [S]3132
contig referenceCSer [S]3132
49675921797 rs1375798916 N.D. missenseCLeu [L]1133
contig referenceTPhe [F]1133
49675925801 rs746701520 0.000byFreq missenseCThr [T]2134
missenseGSer [S]2134
contig referenceAAsn [N]2134
49675929805 rs1456407015 N.D. synonymousALeu [L]3135
synonymousTLeu [L]3135
contig referenceGLeu [L]3135
49675933809 rs1292438287 N.D. missenseAThr [T]1137
contig referenceGAla [A]1137
49675934810 rs750286026 0.000byClusterbyFreq missenseTVal [V]2137
contig referenceCAla [A]2137
49675935811 rs756326423 0.000byFreq synonymousAAla [A]3137
contig referenceGAla [A]3137
49675938814 rs142881257 0.000byCluster synonymousALeu [L]3138
contig referenceGLeu [L]3138
49675946822 rs749385531 0.000 missenseGArg [R]2141
contig referenceAHis [H]2141
49675947823 rs1421210499 N.D. synonymousCHis [H]3141
contig referenceTHis [H]3141
49675948824 rs1271786950 N.D. frame shift-Leu [L]1143
contig referenceGPro [P]1143
49675952828 rs1430999618 N.D. missenseTLeu [L]2143
contig referenceCPro [P]2143
49675958834 rs147182997 0.000byCluster missenseGCys [C]2145
contig referenceATyr [Y]2145
49675960836 rs778769019 0.000 missenseCGln [Q]1146
contig referenceGGlu [E]1146
49675962838 rs745828437 0.000byFreq missenseCAsp [D]3146
synonymousAGlu [E]3146
contig referenceGGlu [E]3146
49675963839 rs1400089329 N.D. missenseAAsn [N]1147
contig referenceGAsp [D]1147
49676057844 rs768340520 0.000byFreq synonymousTAsp [D]3148
contig referenceCAsp [D]3148
49676062849 rs995682756 N.D. missenseGCys [C]2150
contig referenceTPhe [F]2150
49676066853 rs1347074578 N.D. synonymousTGly [G]3151
contig referenceCGly [G]3151
49676074861 rs1431720445 N.D. missenseGCys [C]2154
contig referenceCSer [S]2154
49676077864 rs1285799568 N.D. nonsenseA2155
contig referenceGTrp [W]2155
49676080867 rs776289558 0.000byFreq missenseTLeu [L]2156
contig referenceCSer [S]2156
49676081868 rs761390455 0.000byFreq synonymousASer [S]3156
synonymousTSer [S]3156
contig referenceGSer [S]3156
49676084871 rs769385492 0.000byFreq missenseGGln [Q]3157
synonymousTHis [H]3157
contig referenceCHis [H]3157
49676085872 rs1258948966 N.D. missenseAThr [T]1158
contig referenceTSer [S]1158
49676086873 rs762598527 0.000 missenseGTrp [W]2158
missenseTLeu [L]2158
contig referenceCSer [S]2158
49676087874 rs144465961 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousASer [S]3158
contig referenceGSer [S]3158
49676095882 rs775869101 0.000 missenseGArg [R]2161
contig referenceAHis [H]2161
49676097884 rs1414281601 N.D. -1163
49676102889 rs761046511 0.000byFreq synonymousALeu [L]3163
contig referenceGLeu [L]3163
49676105892 rs764392325 0.000 nonsenseA3164
synonymousCTyr [Y]3164
contig referenceTTyr [Y]3164
49676113900 rs754051626 0.000 missenseCAla [A]2167
contig referenceAGlu [E]2167
49676115902 rs757440528 0.000 missenseCGln [Q]1168
contig referenceALys [K]1168
49676118905 rs926895962 N.D. missenseCGln [Q]1169
contig referenceALys [K]1169
49676121908 rs765493835 0.000 missenseTCys [C]1170
contig referenceCArg [R]1170
49676122909 rs750490555 0.000byFreq missenseAHis [H]2170
contig referenceGArg [R]2170
49676122909 rs767226633 0.000 frame shiftCGln [Q]2172
contig reference-Lys [K]2172
49676123910 rs1199459223 N.D. synonymousTArg [R]3170
contig referenceCArg [R]3170
49676125912 rs1378674996 N.D. missenseTLeu [L]2171
contig referenceCPro [P]2171
49676127914 rs149887495 0.000byClusterbyFreq missenseCGln [Q]1172
contig referenceALys [K]1172
49676129916 rs779974389 0.000byFreq synonymousALys [K]3172
contig referenceGLys [K]3172
49676132919 rs763159787 0.000byClusterbyFreq synonymousTAla [A]3173
contig referenceCAla [A]3173
49676134921 rs1420391595 N.D. missenseTVal [V]2174
contig referenceAGlu [E]2174
49676137924 rs1175573466 N.D. missenseTPhe [F]2175
contig referenceCSer [S]2175
49676138925 rs752175538 0.000byFreq -3177
49676138925 rs1358891736 N.D. synonymousASer [S]3175
contig referenceCSer [S]3175
49676140927 rs754749897 0.000 missenseCSer [S]2176
contig referenceTPhe [F]2176
49676141928 rs1406501802 N.D. synonymousTPhe [F]3176
contig referenceCPhe [F]3176
49676157944 rs1323935563 N.D. missenseGVal [V]1182
contig referenceTLeu [L]1182
49676158945 rs780876657 0.000 missenseCSer [S]2182
missenseGTrp [W]2182
contig referenceTLeu [L]2182
49676159946 rs1230958596 N.D. missenseTPhe [F]3182
contig referenceGLeu [L]3182
49676161948 rs747993647 0.000 missenseGGly [G]2183
contig referenceAAsp [D]2183
49676162949 rs769546586 0.000byFreq synonymousTAsp [D]3183
contig referenceCAsp [D]3183
49676163950 rs773068447 0.000byFreq missenseAIle [I]1184
contig referenceGVal [V]1184
49676167954 rs748743812 0.000 missenseAAsn [N]2185
contig referenceGSer [S]2185
49676170957 rs1490746696 N.D. missenseTVal [V]2186
contig referenceCAla [A]2186
49676172959 rs1222819458 N.D. missenseGGly [G]1187
contig referenceASer [S]1187
49676174961 rs770364290 0.000byFreq synonymousTSer [S]3187
contig referenceCSer [S]3187
49676175962 rs374901664 0.000byClusterbyFreq missenseAAsn [N]1188
missenseTTyr [Y]1188
contig referenceGAsp [D]1188
49676177964 rs1197295972 N.D. synonymousCAsp [D]3188
contig referenceTAsp [D]3188
49676178965 rs761116888 0.000 missenseAAsn [N]1189
contig referenceGAsp [D]1189
49676179966 rs1440345132 N.D. missenseTVal [V]2189
contig referenceAAsp [D]2189
49676180967 rs202163464 0.000byClusterbyFreq missenseAGlu [E]3189
contig referenceTAsp [D]3189
49676188975 rs1378590582 N.D. missenseTVal [V]2192
contig referenceCAla [A]2192
49676195982 rs755673130 0.000byFreq -3196
49676197984 rs1389350095 N.D. missenseCThr [T]2195
contig referenceALys [K]2195
49676198985 rs1164109767 N.D. synonymousALys [K]3195
contig referenceGLys [K]3195
49676204991 rs1323823808 N.D. synonymousCPro [P]3197
contig referenceAPro [P]3197
49676208995 rs1305592076 N.D. frame shift-Gly [G]1199
contig reference(11bp)Gln [Q]1199
49676212999 rs768336061 N.D. missenseAAsp [D]2200
contig referenceCAla [A]2200
496762131000 rs780720403 N.D. synonymousTAla [A]3200
contig referenceCAla [A]3200
496762171004 rs776839461 0.000 missenseGGlu [E]1202
contig referenceALys [K]1202
496762181005 rs149050354 0.000byClusterbyFreq missenseCThr [T]2202
missenseGArg [R]2202
missenseTMet [M]2202
contig referenceALys [K]2202
496762191006 rs1330741540 N.D. synonymousALys [K]3202
contig referenceGLys [K]3202
496763801009 rs1165187765 N.D. synonymousTGly [G]3203
contig referenceGGly [G]3203
496763841013 rs751567862 0.000byCluster nonsenseT1205
contig referenceCGln [Q]1205
496763881017 rs1201127110 N.D. missenseCSer [S]2206
contig referenceTPhe [F]2206
496763951024 rs759716643 0.000 missenseALeu [L]3208
contig referenceTPhe [F]3208
496763991028 rs1422250394 N.D. missenseALys [K]1210
contig referenceGGlu [E]1210
496764041033 rs767293583 0.000 missenseGGlu [E]3211
contig referenceCAsp [D]3211
496764171046 rs1195660757 N.D. missenseGVal [V]1216
contig referenceAMet [M]1216
496764201049 rs1424051803 N.D. missenseAIle [I]1217
contig referenceGVal [V]1217
496764301059 rs752697574 0.000 missenseAAsn [N]2220
contig referenceGSer [S]2220
496764331062 rs41290714 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]2221
contig referenceTIle [I]2221
496764341063 rs1408244346 N.D. missenseGMet [M]3221
contig referenceCIle [I]3221
496764351064 rs777745736 0.000 missenseTSer [S]1222
contig referenceCPro [P]1222
496764421071 rs1466071339 N.D. missenseCPro [P]2224
contig referenceTLeu [L]2224
496764461075 rs138376291 0.000byClusterbyFreq synonymousTCys [C]3225
contig referenceCCys [C]3225
496764471076 rs879725137 N.D. missenseAMet [M]1226
contig referenceGVal [V]1226
496764551084 rs1383548015 N.D. synonymousCAsp [D]3228
contig referenceTAsp [D]3228
496764581087 rs201571888 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTVal [V]3229
contig referenceCVal [V]3229
496764591088 rs778686415 0.000byFreq missenseALys [K]1230
contig referenceGGlu [E]1230
496764611090 rs745367840 0.000byFreq missenseCAsp [D]3230
synonymousAGlu [E]3230
contig referenceGGlu [E]3230
496764731102 rs1276803352 N.D. synonymousTIle [I]3234
contig referenceCIle [I]3234
496764741103 rs1314495971 N.D. missenseGAla [A]1235
contig referenceTSer [S]1235
496764751104 rs1234652171 N.D. missenseTPhe [F]2235
contig referenceCSer [S]2235
496764761105 rs1255463095 N.D. synonymousCSer [S]3235
contig referenceTSer [S]3235
496764771106 rs1247391732 N.D. missenseCLeu [L]1236
contig referenceGVal [V]1236
496764781107 rs962991867 N.D. missenseCAla [A]2236
missenseGGly [G]2236
contig referenceTVal [V]2236
496764811110 rs369684337 0.000byCluster missenseCPro [P]2237
contig referenceTLeu [L]2237
496764831112 rs1057260885 N.D. missenseALys [K]1238
contig referenceGGlu [E]1238
496764841113 rs753750269 0.000byFreq frame shiftGGly [G]2240
contig reference-Val [V]2240
496764881117 rs1487813151 N.D. synonymousTGly [G]3239
contig referenceGGly [G]3239
496764911120 rs145158814 0.000byClusterbyFreq synonymousTVal [V]3240
contig referenceCVal [V]3240
496764951124 rs770100074 0.000 missenseALys [K]1242
contig referenceGGlu [E]1242
496764961125 rs773534553 0.000 missenseTVal [V]2242
contig referenceAGlu [E]2242
496764971126 rs1419651245 N.D. missenseCAsp [D]3242
contig referenceGGlu [E]3242
496764981127 rs111331609 0.500 missenseTTyr [Y]1243
contig referenceAAsn [N]1243
496764991128 rs1375426108 N.D. missenseGSer [S]2243
contig referenceAAsn [N]2243
496765001129 rs1454899633 N.D. synonymousCAsn [N]3243
contig referenceTAsn [N]3243
496765011130 rs879800777 N.D. missenseAMet [M]1244
contig referenceGVal [V]1244
496765031132 rs763422947 0.000 synonymousAVal [V]3244
contig referenceGVal [V]3244
496765051134 rs1359522215 N.D. missenseTPhe [F]2245
contig referenceCSer [S]2245
496765121141 rs771044671 0.000 synonymousGGly [G]3247
contig referenceAGly [G]3247
496766101146 rs778309211 0.000 missenseTVal [V]2249
contig referenceCAla [A]2249
496766131149 rs749609197 0.000 missenseCSer [S]2250
contig referenceTPhe [F]2250
496766141150 rs1292301855 N.D. missenseALeu [L]3250
contig referenceTPhe [F]3250
496766171153 rs1230114212 N.D. missenseCCys [C]3251
contig referenceGTrp [W]3251
496766191155 rs187833223 0.000With1000GenomeData missenseTVal [V]2252
contig referenceCAla [A]2252
496766211157 rs1019476254 N.D. missenseTSer [S]1253
contig referenceCPro [P]1253
496766251161 rs1220583584 N.D. missenseAGlu [E]2254
contig referenceGGly [G]2254
496766341170 rs760857017 0.000byFreq missenseAAsp [D]2257
missenseCAla [A]2257
missenseTVal [V]2257
contig referenceGGly [G]2257
496766361172 rs1459008787 N.D. -1259
496766381174 rs550494932 0.000byFreqWith1000GenomeData0.0002 synonymousAVal [V]3258
contig referenceGVal [V]3258
496766391175 rs975335022 N.D. missenseAMet [M]1259
contig referenceGVal [V]1259
496766441180 rs775693905 0.000 synonymousCPhe [F]3260
contig referenceTPhe [F]3260
496766441180 rs1237016564 N.D. frame shift-Gly [G]3261
contig referenceTGVal [V]3261
496766491185 rs1183169204 N.D. missenseTVal [V]2262
contig referenceGGly [G]2262
496766521188 rs760899804 0.000 nonsenseA2263
contig referenceGTrp [W]2263
496766561192 rs764125631 0.000 missenseCCys [C]3264
contig referenceGTrp [W]3264
496766581194 rs1164484619 N.D. missenseGArg [R]2265
contig referenceAHis [H]2265
496766591195 rs1387222902 N.D. synonymousCHis [H]3265
contig referenceTHis [H]3265
496766621198 rs1348554431 N.D. synonymousAGlu [E]3266
contig referenceGGlu [E]3266
496766641200 rs776637470 0.000 missenseTLeu [L]2267
contig referenceCPro [P]2267
496766671203 rs141404926 0.000byCluster missenseGCys [C]2268
contig referenceTPhe [F]2268
496766681204 rs1261293797 N.D. missenseGLeu [L]3268
contig referenceCPhe [F]3268
496766691205 rs1467632764 N.D. missenseTTrp [W]1269
contig referenceCArg [R]1269
496766701206 rs761455823 0.000 missenseAGln [Q]2269
contig referenceGArg [R]2269
496766721208 rs765099950 0.000 synonymousCLeu [L]1270
contig referenceTLeu [L]1270
496766811217 rs571736407 0.000With1000GenomeData0.0002 missenseTCys [C]1273
contig referenceCArg [R]1273
496766821218 rs1286126689 N.D. missenseAHis [H]2273
missenseCPro [P]2273
contig referenceGArg [R]2273
496766841220 rs745717652 0.000 frame shift-Ala [A]1275
contig referenceTCys [C]1275
496766901226 rs1175253381 N.D. missenseCPro [P]1276
contig referenceAThr [T]1276
496766941230 rs758011278 0.000 missenseGSer [S]2277
contig referenceAAsn [N]2277
496766961232 rs766068866 0.000byFreq missenseTCys [C]1278
contig referenceCArg [R]1278
496766971233 rs919875890 N.D. missenseAHis [H]2278
contig referenceGArg [R]2278
496766981234 rs751054791 0.000byFreq synonymousTArg [R]3278
contig referenceCArg [R]3278
496766991235 rs1198956597 N.D. missenseGGly [G]1279
contig referenceAArg [R]1279
496767821242 rs768872805 0.000 missenseTVal [V]2281
contig referenceCAla [A]2281
496767831243 rs1335049698 N.D. synonymousTAla [A]3281
contig referenceCAla [A]3281
496767871247 rs1447555842 N.D. missenseCHis [H]1283
contig referenceTTyr [Y]1283
496767921252 rs1131095 0.388byClusterbyFreqWith1000GenomeData0.2027 nonsenseG3284
synonymousCTyr [Y]3284
synonymousCTyr [Y]3284
synonymousCTyr [Y]3284
synonymousCTyr [Y]3284
contig referenceTTyr [Y]3284
contig referenceTTyr [Y]3284
contig referenceTTyr [Y]3284
contig referenceTTyr [Y]3284
496767931253 rs761839473 0.000 missenseAMet [M]1285
contig referenceGVal [V]1285
496767991259 rs765123869 0.000byFreq missenseGVal [V]1287
contig referenceCLeu [L]1287
496768021262 rs773034464 0.000byFreq missenseTPhe [F]1288
contig referenceAIle [I]1288
496768041264 rs768993340 0.000 frame shiftGGlu [E]3291
contig reference-Lys [K]3291
496768041264 rs1039038199 N.D. synonymousTIle [I]3288
contig referenceCIle [I]3288
496768051265 rs147272980 0.000byClusterbyFreq missenseAArg [R]1289
missenseCArg [R]1289
contig referenceGGly [G]1289
496768061266 rs1438586205 N.D. missenseAGlu [E]2289
contig referenceGGly [G]2289
496768081268 rs1220927814 N.D. missenseCArg [R]1290
contig referenceGGly [G]1290
496768101270 rs766015468 0.000 synonymousAGly [G]3290
synonymousCGly [G]3290
contig referenceGGly [G]3290
496768131273 rs751215947 0.000byFreq missenseTAsn [N]3291
contig referenceGLys [K]3291
496768171277 rs754437470 0.000 missenseALys [K]1293
contig referenceGGlu [E]1293
496769051280 rs890512718 N.D. missenseTPhe [F]1294
contig referenceCLeu [L]1294
496769071282 rs111604611 N.D.byCluster synonymousTLeu [L]3294
contig referenceCLeu [L]3294
496769121287 rs762668456 0.000 missenseGTrp [W]2296
missenseTLeu [L]2296
contig referenceCSer [S]2296
496769131288 rs886234878 N.D. synonymousASer [S]3296
contig referenceGSer [S]3296
496769221297 rs1247811575 N.D. synonymousTSer [S]3299
contig referenceCSer [S]3299
496769241299 rs1004692074 N.D. missenseGArg [R]2300
contig referenceTLeu [L]2300
496769271302 rs770723695 0.000byFreq missenseGGly [G]2301
contig referenceCAla [A]2301
496769291304 rs773955392 0.000 missenseAIle [I]1302
contig referenceGVal [V]1302
496769301305 rs1008987467 N.D. missenseAAsp [D]2302
contig referenceTVal [V]2302
496769361311 rs759159452 0.000 missenseTPhe [F]2304
contig referenceCSer [S]2304
496769371312 rs767125910 0.000 synonymousCSer [S]3304
contig referenceTSer [S]3304
496769381313 rs1307614475 N.D. missenseTSer [S]1305
contig referenceCPro [P]1305
496769391314 rs1158345127 N.D. missenseAHis [H]2305
contig referenceCPro [P]2305
496769411316 rs752238584 0.000byFreq missenseTTrp [W]1306
contig referenceCArg [R]1306
496769421317 rs377083315 0.000byClusterbyFreq missenseAGln [Q]2306
missenseCPro [P]2306
contig referenceGArg [R]2306
496769491324 rs1324073006 N.D. synonymousTSer [S]3308
contig referenceCSer [S]3308
496769521327 rs1385195219 N.D. synonymousGPro [P]3309
contig referenceAPro [P]3309
496769531328 rs1330485354 N.D. missenseAAsn [N]1310
contig referenceGAsp [D]1310
496769561331 rs765711819 0.000 missenseALys [K]1311
contig referenceCGln [Q]1311
496769581333 rs750983200 0.000byFreq synonymousGGln [Q]3311
contig referenceAGln [Q]3311
496769591334 rs1377068410 N.D. missenseCArg [R]1312
contig referenceTCys [C]1312
496769621337 rs147426925 0.000byClusterbyFreq missenseTCys [C]1313
contig referenceCArg [R]1313
496769631338 rs1019425441 N.D. missenseAHis [H]2313
missenseTLeu [L]2313
contig referenceGArg [R]2313
496769681343 rs780594135 0.000 missenseAIle [I]1315
contig referenceGVal [V]1315
496769691344 rs1238476875 N.D. missenseCAla [A]2315
contig referenceTVal [V]2315
496769791354 rs1348909332 N.D. synonymousAGln [Q]3318
contig referenceGGln [Q]3318
496769851360 rs752009887 0.000 synonymousGPro [P]3320
contig referenceAPro [P]3320
496769921367 rs199533650 0.002byCluster missenseGVal [V]1323
contig referenceAIle [I]1323
496769941369 rs755202628 0.000 synonymousTIle [I]3323
contig referenceCIle [I]3323
496770011376 rs781323171 0.000 missenseTTyr [Y]1326
contig referenceCHis [H]1326
496770051380 rs748255638 0.000 missenseCPro [P]2327
contig referenceAGln [Q]2327
496770061381 rs1364955399 N.D. synonymousGGln [Q]3327
contig referenceAGln [Q]3327
496770101385 rs769768182 0.000 missenseGGly [G]1329
contig referenceASer [S]1329
496770161391 rs777706478 0.000 synonymousTLeu [L]1331
contig referenceCLeu [L]1331
496770211396 rs749256808 0.000 synonymousTCys [C]3332
contig referenceCCys [C]3332
496770221397 rs963864652 N.D. missenseGVal [V]1333
contig referenceCLeu [L]1333
496775751402 rs1410720100 N.D. synonymousCTyr [Y]3334
contig referenceTTyr [Y]3334
496775811408 rs199629754 N.D.byCluster nonsenseA3336
missenseCCys [C]3336
contig referenceGTrp [W]3336
496775841411 rs1159228509 N.D. synonymousCTyr [Y]3337
contig referenceTTyr [Y]3337
496775861413 rs202201812 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseAAsn [N]2338
contig referenceCThr [T]2338
496775871414 rs763537872 0.000 synonymousAThr [T]3338
synonymousGThr [T]3338
contig referenceCThr [T]3338
496775891416 rs1367670725 N.D. missenseGArg [R]2339
contig referenceALys [K]2339
496775951422 rs1483380880 N.D. missenseTIle [I]2341
contig referenceCThr [T]2341
496776001427 rs141087407 0.001byClusterbyFreqWith1000GenomeData0.0014 missenseCLeu [L]1343
contig referenceGVal [V]1343
496776071434 rs1213074359 N.D. missenseCAla [A]2345
contig referenceTVal [V]2345
496776091436 rs912168992 N.D. missenseCHis [H]1346
contig referenceGAsp [D]1346
496776111438 rs769786627 0.000byFreq -3348
496776121439 rs1464609462 N.D. missenseAIle [I]1347
contig referenceGVal [V]1347
496776161443 rs763520485 0.000 missenseCAla [A]2348
contig referenceTVal [V]2348
496776191446 rs1245944251 N.D. missenseGArg [R]2349
contig referenceCPro [P]2349
496776211448 rs755624130 N.D. missenseTTrp [W]1350
contig referenceCArg [R]1350
496776221449 rs369237307 0.000byCluster missenseAGln [Q]2350
contig referenceGArg [R]2350
496776271454 rs751955569 0.000 synonymousTLeu [L]1352
contig referenceCLeu [L]1352
496776281455 rs1355162503 N.D. missenseGArg [R]2352
contig referenceTLeu [L]2352
496776291456 rs1231872498 N.D. synonymousTLeu [L]3352
contig referenceGLeu [L]3352
496776311458 rs755363525 0.000byFreq missenseTVal [V]2353
contig referenceGGly [G]2353
496788531462 rs773724200 0.000 frame shift-Thr [T]3355
contig referenceGAsn [N]3355
496788531462 rs779678983 0.000byClusterbyFreq missenseTAsp [D]3354
contig referenceGGlu [E]3354
496788601469 rs746867964 0.000byFreq missenseCPro [P]1357
contig referenceTSer [S]1357
496788651474 rs1255684843 N.D. synonymousTGly [G]3358
contig referenceGGly [G]3358
496788691478 rs1158948116 N.D. missenseCHis [H]1360
contig referenceTTyr [Y]1360
496788701479 rs1361495309 N.D. missenseCSer [S]2360
missenseGCys [C]2360
contig referenceATyr [Y]2360
496788711480 rs1204543914 N.D. synonymousTTyr [Y]3360
contig referenceCTyr [Y]3360
496788751484 rs1453511070 N.D. missenseTCys [C]1362
contig referenceASer [S]1362
496788771486 rs969458350 N.D. synonymousTSer [S]3362
contig referenceCSer [S]3362
496788811490 rs1027699960 N.D. synonymousTLeu [L]1364
contig referenceCLeu [L]1364
496788841493 rs768405309 0.000 missenseTSer [S]1365
contig referenceCPro [P]1365
496788861495 rs1303083987 N.D. synonymousGPro [P]3365
contig referenceTPro [P]3365
496788911500 rs188992787 0.000With1000GenomeData missenseAGlu [E]2367
missenseCAla [A]2367
missenseTVal [V]2367
contig referenceGGly [G]2367
496789071516 rs747594871 0.000 missenseGGlu [E]3372
contig referenceCAsp [D]3372
496789091518 rs1302731701 N.D. missenseAAsn [N]2373
contig referenceGSer [S]2373
496789101519 rs1368941292 N.D. synonymousTSer [S]3373
contig referenceCSer [S]3373
496789151524 rs1242503960 N.D. missenseCThr [T]2375
contig referenceGArg [R]2375
496789161525 rs769442797 0.000byFreq synonymousGArg [R]3375
contig referenceAArg [R]3375
496789171526 rs572505246 N.D. missenseCLeu [L]1376
contig referenceGVal [V]1376
496789181527 rs1316070460 N.D. missenseCAla [A]2376
contig referenceTVal [V]2376
496789191528 rs774949191 0.000 synonymousTVal [V]3376
contig referenceGVal [V]3376
496789241533 rs140712255 0.000byCluster missenseCSer [S]2378
contig referenceTPhe [F]2378
496789281537 rs200257108 0.000byClusterWith1000GenomeData0.0002 synonymousTAsp [D]3379
contig referenceCAsp [D]3379
496789301539 rs927123158 N.D. missenseGTrp [W]2380
missenseTLeu [L]2380
contig referenceCSer [S]2380
496789311540 rs146708014 0.001byClusterbyFreqWith1000GenomeData0.0006 synonymousASer [S]3380
contig referenceGSer [S]3380
496789381547 rs374888582 0.000byClusterbyFreq missenseTCys [C]1383
contig referenceCArg [R]1383
496789391548 rs761169073 0.000 missenseAHis [H]2383
contig referenceGArg [R]2383
496789441553 rs377221139 0.000byCluster missenseTTrp [W]1385
contig referenceCArg [R]1385
496789451554 rs145125345 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2385
contig referenceGArg [R]2385
496789461555 rs1439460124 N.D. synonymousAArg [R]3385
contig referenceGArg [R]3385
496789481557 rs1157331947 N.D. frame shift-Arg [R]2386
contig referenceAGln [Q]2386
496795961562 rs1164777072 N.D. missenseGVal [V]1388
contig referenceCLeu [L]1388
496796021568 rs748889224 0.000 missenseCPro [P]1390
contig referenceGAla [A]1390
496796161582 rs772454479 0.000 synonymousGGln [Q]3394
contig referenceAGln [Q]3394
496796221588 rs1467684564 N.D. synonymousGGly [G]3396
synonymousTGly [G]3396
contig referenceCGly [G]3396
496796251591 rs1280397835 N.D. synonymousGThr [T]3397
contig referenceTThr [T]3397
496796311597 rs776070824 0.000byFreq synonymousTThr [T]3399
contig referenceCThr [T]3399
496796331599 rs1357557771 N.D. missenseTPhe [F]2400
contig referenceCSer [S]2400
496796341600 rs1332105778 N.D. synonymousTSer [S]3400
contig referenceCSer [S]3400
496796351601 rs546162423 0.000byFreqWith1000GenomeData0.0002 missenseGVal [V]1401
contig referenceCLeu [L]1401
496796371603 rs769034769 0.000 synonymousTLeu [L]3401
contig referenceCLeu [L]3401
496796441610 rs1304814692 N.D. missenseAArg [R]1404
contig referenceGGly [G]1404
496805461616 rs901220355 N.D. missenseCPro [P]1406
contig referenceTSer [S]1406
496805491619 rs1276092202 N.D. missenseASer [S]1407
contig referenceGGly [G]1407
496805501620 rs148997471 0.000byClusterbyFreqWith1000GenomeData0.0008 missenseCAla [A]2407
missenseTVal [V]2407
contig referenceGGly [G]2407
496805531623 rs769093342 0.000 missenseAGlu [E]2408
missenseCAla [A]2408
contig referenceGGly [G]2408
496805541624 rs1308869599 N.D. synonymousAGly [G]3408
contig referenceGGly [G]3408
496805591629 rs1440103096 N.D. nonsenseA2410
contig referenceGTrp [W]2410
496805601630 rs34258518 N.D. frame shiftGGlu [E]3411
contig reference-Lys [K]3411
496805631633 rs367817766 0.000byCluster synonymousALys [K]3411
contig referenceGLys [K]3411
496805711641 rs1278631784 N.D. frame shiftAAsn [N]2415
contig reference-Ile [I]2415
496805731643 rs1489480202 N.D. missenseGVal [V]1415
contig referenceAIle [I]1415
496805871657 rs201644578 0.000byClusterWith1000GenomeData0.0002 synonymousGLeu [L]3419
contig referenceCLeu [L]3419
496805881658 rs759513667 0.000byFreq missenseCLeu [L]1420
missenseTLeu [L]1420
contig referenceAMet [M]1420
496805891659 rs752537962 0.000 missenseCThr [T]2420
contig referenceTMet [M]2420
496805901660 rs755979621 0.000 missenseAIle [I]3420
contig referenceGMet [M]3420
496805911661 rs1192958012 N.D. missenseAMet [M]1421
missenseTLeu [L]1421
contig referenceGVal [V]1421
496805931663 rs1171555059 N.D. synonymousAVal [V]3421
contig referenceGVal [V]3421
496805951665 rs763596240 0.000 missenseTVal [V]2422
contig referenceCAla [A]2422
496805951665 rs771266204 0.000 frame shift-Val [V]2423
contig referenceCAGln [Q]2423
496806001670 rs1436396467 N.D. missenseAIle [I]1424
contig referenceTPhe [F]1424
496806061676 rs371824766 0.000byCluster missenseTSer [S]1426
contig referenceAThr [T]1426
496806081678 rs1395286639 N.D. synonymousTThr [T]3426
contig referenceAThr [T]3426
496806091679 rs1362146625 N.D. missenseTSer [S]1427
contig referenceCPro [P]1427
496806171687 rs1274739926 N.D. synonymousGLeu [L]3429
contig referenceALeu [L]3429
496806191689 rs551257615 0.000With1000GenomeData0.0002 missenseGArg [R]2430
missenseTLeu [L]2430
contig referenceCPro [P]2430
496806251695 rs1317506002 N.D. missenseTIle [I]2432
contig referenceCThr [T]2432
496811011700 rs978326438 N.D. missenseGGlu [E]1434
contig referenceALys [K]1434
496811051704 rs767496793 0.000byFreq missenseCAla [A]2435
contig referenceTVal [V]2435
496811071706 rs1237937044 N.D. missenseTTrp [W]1436
contig referenceGGly [G]1436
496811151714 rs1262962110 N.D. synonymousTLeu [L]3438
contig referenceGLeu [L]3438
496811201719 rs775583716 0.000byFreq missenseGCys [C]2440
missenseTPhe [F]2440
contig referenceCSer [S]2440
496811221721 rs1433305455 N.D. missenseAThr [T]1441
contig referenceGAla [A]1441
496811241723 rs763983909 0.000 synonymousCAla [A]3441
synonymousGAla [A]3441
contig referenceAAla [A]3441
496811341733 rs199874838 0.000byClusterWith1000GenomeData0.0002 missenseGGlu [E]1445
contig referenceCGln [Q]1445
496811361735 rs756916211 0.000byFreq synonymousAGln [Q]3445
contig referenceGGln [Q]3445
496811391738 rs1468050333 N.D. synonymousGSer [S]3446
contig referenceASer [S]3446
496811421741 rs764859779 0.000 synonymousTVal [V]3447
contig referenceGVal [V]3447
496811451744 rs1240159214 N.D. frame shift-Cys [C]3449
contig referenceGTGGTrp [W]3449
496811491748 rs749926479 0.000 missenseCLeu [L]1450
contig referenceGVal [V]1450
496811511750 rs1181444271 N.D. synonymousAVal [V]3450
contig referenceGVal [V]3450
496811521751 rs1177145592 N.D. missenseAThr [T]1451
contig referenceTSer [S]1451
496811531752 rs202078335 0.000byClusterbyFreq missenseTPhe [F]2451
contig referenceCSer [S]2451
496811581757 rs1473665791 N.D. missenseALys [K]1453
contig referenceGGlu [E]1453
496811611760 rs201727876 0.000byClusterWith1000GenomeData0.0002 missenseALys [K]1454
contig referenceGGlu [E]1454
496811641763 rs1417122375 N.D. missenseAThr [T]1455
contig referenceGAla [A]1455
496811661765 rs148073833 0.000byClusterbyFreq synonymousTAla [A]3455
contig referenceCAla [A]3455
496811671766 rs533054211 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]1456
contig referenceGGlu [E]1456
496811701769 rs778167081 0.000 missenseAThr [T]1457
contig referenceCPro [P]1457
496811761775 rs749663968 0.000 missenseTSer [S]1459
contig referenceCPro [P]1459
496811781777 rs373786763 0.000byClusterbyFreq synonymousTPro [P]3459
contig referenceCPro [P]3459
496811791778 rs774720399 0.000 missenseAAsn [N]1460
contig referenceGAsp [D]1460
496811851784 rs201376582 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTTyr [Y]1462
contig referenceCHis [H]1462
496811861785 rs772302891 0.000 missenseCPro [P]2462
contig referenceAHis [H]2462
496811881787 rs775532286 0.000 missenseGGly [G]1463
contig referenceTTrp [W]1463
496811921791 rs560378189 0.000With1000GenomeData0.0002 missenseCAla [A]2464
contig referenceGGly [G]2464
496811931792 rs763991113 0.000 synonymousTGly [G]3464
contig referenceCGly [G]3464
496811941793 rs376756916 0.000byCluster missenseGVal [V]1465
contig referenceAIle [I]1465
496811971796 rs761576595 0.000byFreq missenseTTrp [W]1466
contig referenceCArg [R]1466
496811981797 rs113937135 0.001byClusterbyFreqWith1000GenomeData0.0020 missenseAGln [Q]2466
contig referenceGArg [R]2466
496812001799 rs1443892811 N.D. missenseAMet [M]1467
contig referenceGVal [V]1467
496812021801 rs186138489 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousAVal [V]3467
contig referenceGVal [V]3467
496812031802 rs762397763 0.000 missenseGVal [V]1468
contig referenceCLeu [L]1468
496812061805 rs1474175264 N.D. nonsenseT1469
contig referenceCGln [Q]1469
496812101809 rs147045459 0.000byClusterbyFreqWith1000GenomeData0.0014 missenseTLeu [L]2470
contig referenceCPro [P]2470
496812131812 rs1373085993 N.D. missenseTLeu [L]2471
contig referenceCPro [P]2471
496812161815 rs984063699 N.D. missenseTLeu [L]2472
contig referenceCPro [P]2472
496812201819 rs929167451 N.D. synonymousAGlu [E]3473
contig referenceGGlu [E]3473
496812241823 rs751069737 0.000byFreq missenseALys [K]1475
contig referenceGGlu [E]1475
496812261825 rs756622729 0.000 missenseTAsp [D]3475
contig referenceGGlu [E]3475
496812301829 rs906495729 N.D. missenseTLeu [L]1477
contig referenceGVal [V]1477
496812321831 rs369738109 0.000byClusterbyFreq synonymousAVal [V]3477
contig referenceGVal [V]3477
496812341833 rs535978549 0.000With1000GenomeData0.0002 missenseCPro [P]2478
contig referenceAGln [Q]2478
496812361835 rs1313858016 N.D. missenseCHis [H]1479
contig referenceTTyr [Y]1479
496817251842 rs769597567 0.000 missenseTVal [V]2481
contig referenceGGly [G]2481
496817261843 rs1302966838 N.D. synonymousTGly [G]3481
contig referenceCGly [G]3481
496817271844 rs1345409664 N.D. missenseGVal [V]1482
missenseTPhe [F]1482
contig referenceCLeu [L]1482
496817321849 rs1217714761 N.D. synonymousTAsp [D]3483
contig referenceCAsp [D]3483
496817331850 rs1206286354 N.D. frame shift-Leu [L]1484
contig referenceTPhe [F]1484
496817351852 rs1261133344 N.D. synonymousCPhe [F]3484
contig referenceTPhe [F]3484
496817431860 rs527602044 0.000With1000GenomeData0.0002 missenseAAsn [N]2487
contig referenceTIle [I]2487
496817441861 rs1007591974 N.D. synonymousAIle [I]3487
synonymousTIle [I]3487
contig referenceCIle [I]3487
496817471864 rs377517350 0.000byClusterbyFreq YessynonymousCLeu [L]3488
contig referenceGLeu [L]3488
496817511868 rs1315169253 N.D. nonsenseT1490
contig referenceCGln [Q]1490
496817601877 rs762561124 0.000 missenseGGly [G]1493
contig referenceASer [S]1493
496817681885 rs766066874 0.000 synonymousGPro [P]3495
contig referenceAPro [P]3495
496817711888 rs1454343929 N.D. synonymousCAsp [D]3496
contig referenceTAsp [D]3496
496817741891 rs1192565708 N.D. missenseTAsn [N]3497
contig referenceGLys [K]3497
496817771894 rs751067244 0.000byFreq synonymousGThr [T]3498
synonymousTThr [T]3498
contig referenceCThr [T]3498
496817801897 rs1441209641 N.D. synonymousGGln [Q]3499
contig referenceAGln [Q]3499
496817811898 rs139152351 0.000byClusterbyFreq YesmissenseAMet [M]1500
contig referenceGVal [V]1500
496817811898 rs901357535 N.D. frame shift-Cys [C]1500
contig referenceGVal [V]1500
496817891906 rs1364793122 N.D. missenseAIle [I]3502
contig referenceGMet [M]3502
496817921909 rs1453664893 N.D. synonymousAVal [V]3503
contig referenceGVal [V]3503
496817981915 rs531462009 N.D. missenseAIle [I]3505
contig referenceGMet [M]3505
496817991916 rs868336106 N.D.byCluster missenseTSer [S]1506
contig referenceCPro [P]1506
496818031920 rs1220436989 N.D. missenseGArg [R]2507
contig referenceAHis [H]2507
496818041921 rs549920856 0.000byClusterbyFreq missenseAGln [Q]3507
synonymousTHis [H]3507
contig referenceCHis [H]3507
496818051922 rs779391887 0.000byFreq missenseAArg [R]1508
missenseCArg [R]1508
contig referenceGGly [G]1508
496818871923 rs750816647 0.000 missenseAGlu [E]2508
missenseTVal [V]2508
contig referenceGGly [G]2508
496818881924 rs758841344 0.000 synonymousAGly [G]3508
contig referenceGGly [G]3508
496818901926 rs1387131444 N.D. missenseAGlu [E]2509
contig referenceGGly [G]2509
496818911927 rs201882129 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAGly [G]3509
synonymousTGly [G]3509
contig referenceGGly [G]3509
496818921928 rs981132304 N.D. missenseAThr [T]1510
contig referenceCPro [P]1510
496818961932 rs751748878 0.000 missenseGArg [R]2511
contig referenceAHis [H]2511
496819031939 rs1164274313 N.D. synonymousTSer [S]3513
contig referenceCSer [S]3513
496819141950 rs201058339 0.000byClusterWith1000GenomeData0.0002 YesmissenseTVal [V]2517
contig referenceCAla [A]2517
496819191955 rs1444554186 N.D. missenseGVal [V]1519
contig referenceAMet [M]1519
496819291965 rs781097504 0.000byFreq missenseAGln [Q]2522
contig referenceCPro [P]2522
496819301966 rs1331400272 N.D. synonymousGPro [P]3522
contig referenceAPro [P]3522
496819331969 rs1303705918 N.D. synonymousTAla [A]3523
contig referenceCAla [A]3523
496819351971 rs1437955186 N.D. missenseCThr [T]2524
contig referenceTMet [M]2524
496819381974 rs756031017 0.000byFreq missenseGArg [R]2525
contig referenceTLeu [L]2525
496819431979 rs1389495716 N.D. missenseCGln [Q]1527
missenseGGlu [E]1527
contig referenceALys [K]1527
496819461982 rs1294950426 N.D. missenseGVal [V]1528
contig referenceAMet [M]1528
496819531989 rs777754387 0.000 missenseCSer [S]2530
contig referenceTPhe [F]2530
496819561992 rs749014824 0.000 missenseTVal [V]2531
contig referenceCAla [A]2531
496819571993 rs376913085 0.000byClusterbyFreq YessynonymousAAla [A]3531
contig referenceGAla [A]3531
496819611997 rs960535265 N.D. missenseAIle [I]1533
missenseGVal [V]1533
synonymousTLeu [L]1533
contig referenceCLeu [L]1533
496819631999 rs987865559 N.D. synonymousCLeu [L]3533
contig referenceALeu [L]3533
496819652001 rs1231973461 N.D. missenseCPro [P]2534
contig referenceTLeu [L]2534
496819662002 rs774015404 0.000 synonymousCLeu [L]3534
synonymousGLeu [L]3534
synonymousTLeu [L]3534
contig referenceALeu [L]3534
496823532009 rs1175759684 N.D. frame shift-Ile [I]1537
contig referenceTTyr [Y]1537
496823542010 rs763520254 0.000 missenseGCys [C]2537
contig referenceATyr [Y]2537
496823562012 rs771515411 0.000 missenseTCys [C]1538
contig referenceCArg [R]1538
496823572013 rs774564457 0.000byFreq missenseAHis [H]2538
contig referenceGArg [R]2538
496823592015 rs1346862141 N.D. missenseASer [S]1539
contig referenceGGly [G]1539
496823602016 rs979597462 N.D. missenseAAsp [D]2539
contig referenceGGly [G]2539
496823622018 rs760010494 0.000 missenseCPro [P]1540
contig referenceTSer [S]1540
496823632019 rs1269062451 N.D. missenseGCys [C]2540
contig referenceCSer [S]2540
496823662022 rs3816877 0.007byClusterbyFreqWith1000GenomeData0.0074 YesmissenseGArg [R]2541
missenseTMet [M]2541
contig referenceCThr [T]2541
496823672023 rs752929850 0.000 synonymousAThr [T]3541
contig referenceGThr [T]3541
496823702026 rs1303722541 N.D. synonymousTGly [G]3542
contig referenceCGly [G]3542
496823762032 rs1464760000 N.D. synonymousTGly [G]3544
contig referenceCGly [G]3544
496823862042 rs1349002088 N.D. missenseGVal [V]1548
missenseTPhe [F]1548
contig referenceAIle [I]1548
496823892045 rs760706667 0.000byFreq missenseGVal [V]1549
missenseTPhe [F]1549
contig referenceCLeu [L]1549
496823912047 rs1418634841 N.D. frame shift-Gln [Q]3551
contig referenceCTCCLeu [L]3551
496823952051 rs1277012810 N.D. missenseTPhe [F]1551
contig referenceCLeu [L]1551
496824022058 rs975607104 N.D. missenseAAsp [D]2553
contig referenceGGly [G]2553
496824052061 rs374100224 0.000byCluster YesmissenseGSer [S]2554
missenseTIle [I]2554
contig referenceAAsn [N]2554
496824132069 rs1225777915 N.D. missenseTTyr [Y]1557
contig referenceCHis [H]1557
496824152071 rs757130027 0.000byFreq missenseGGln [Q]3557