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SNP linked to Gene (geneID:6444) 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): 8
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000337.5plus strandNP_000328.2forwardNT_023133.14GRCh38.p7<- currently shown
XM_017009724.1plus strandXP_016865213.1forwardNT_023133.14GRCh38.p7View snp on GeneModel
XM_017009723.1plus strandXP_016865212.1forwardNT_023133.14GRCh38.p7View snp on GeneModel
XM_011534621.2plus strandXP_011532923.1forwardNT_023133.14GRCh38.p7View snp on GeneModel
XM_005265967.2plus strandXP_005266024.1forwardNT_023133.14GRCh38.p7View snp on GeneModel
XM_005265966.4plus strandXP_005266023.1forwardNT_023133.14GRCh38.p7View snp on GeneModel
NM_172244.2plus strandNP_758447.1forwardNT_023133.14GRCh38.p7View snp on GeneModel
NM_001128209.1plus strandNP_001121681.1forwardNT_023133.14GRCh38.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_023133.14NM_000337.5NP_000328.2forwardplus strand330, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
156329577520 rs756367674 0.000 missenseGVal [V]11
contig referenceAMet [M]11
156344496530 rs535501891 0.000With1000GenomeData0.0002 missenseCPro [P]24
contig referenceAGln [Q]24
156344500534 rs549319429 0.003byFreqWith1000GenomeData0.0014 missenseCAsp [D]35
synonymousAGlu [E]35
contig referenceGGlu [E]35
156344502536 rs1199764097 N.D. missenseGArg [R]26
contig referenceAGln [Q]26
156344505539 rs1171173178 N.D. missenseGCys [C]27
contig referenceATyr [Y]27
156344510544 rs1320640424 N.D. missenseTTyr [Y]19
contig referenceCHis [H]19
156344516550 rs566181541 0.000byFreqWith1000GenomeData0.0002 missenseTTrp [W]111
contig referenceCArg [R]111
156344517551 rs752548592 0.000byFreq missenseAGln [Q]211
contig referenceGArg [R]211
156344518552 rs756007116 0.000 synonymousAArg [R]311
contig referenceGArg [R]311
156344519553 rs367557986 0.000byCluster missenseGGly [G]112
contig referenceASer [S]112
156344520554 rs1449665448 N.D. missenseAAsn [N]212
contig referenceGSer [S]212
156344522556 rs1303645291 N.D. missenseGAla [A]113
contig referenceAThr [T]113
156344524558 rs1389925447 N.D. synonymousAThr [T]313
contig referenceCThr [T]313
156344525559 rs903232864 N.D. missenseGVal [V]114
contig referenceAMet [M]114
156344527561 rs1281906026 N.D. missenseAIle [I]314
contig referenceGMet [M]314
156344533567 rs1219744518 N.D. frame shift-Cys [C]317
contig referenceCTSer [S]317
156344539573 rs756970013 0.000 synonymousAVal [V]318
contig referenceGVal [V]318
156344541575 rs778664534 0.000byFreq missenseAGlu [E]219
contig referenceGGly [G]219
156344544578 rs745397161 0.000 missenseAGln [Q]220
contig referenceCPro [P]220
156344546580 rs771463833 0.000 missenseALys [K]121
contig referenceCGln [Q]121
156344547581 rs1041584098 N.D. missenseCPro [P]221
contig referenceAGln [Q]221
156344551585 rs900010728 N.D. synonymousTVal [V]322
contig referenceAVal [V]322
156344553587 rs776107667 0.000byFreq missenseGCys [C]223
contig referenceATyr [Y]223
156344556590 rs1474856736 N.D. missenseGArg [R]224
contig referenceALys [K]224
156344561595 rs769123154 0.000 missenseAArg [R]126
contig referenceGGly [G]126
156344562596 rs370189224 0.000byCluster missenseAGlu [E]226
contig referenceGGly [G]226
156344564598 rs373824540 0.000byClusterbyFreq missenseGVal [V]127
missenseTPhe [F]127
contig referenceAIle [I]127
156344565599 rs1167098684 N.D. missenseCThr [T]227
contig referenceTIle [I]227
156344569603 rs1801193 0.498byClusterbyFreqWith1000GenomeData0.4854 synonymousCTyr [Y]328
contig referenceTTyr [Y]328
156344570604 rs773399590 0.000 missenseASer [S]129
missenseTCys [C]129
contig referenceGGly [G]129
156344571605 rs763131123 0.000 missenseTVal [V]229
contig referenceGGly [G]229
156344572606 rs766362148 0.000 synonymousAGly [G]329
contig referenceCGly [G]329
156344573607 rs1401160391 N.D. frame shiftGAla [A]131
contig reference-Arg [R]131
156344576610 rs202223676 0.026byClusterbyFreq missenseGGly [G]131
missenseTTrp [W]131
contig referenceCArg [R]131
156344577611 rs200476861 0.000byClusterbyFreq missenseAGln [Q]231
contig referenceGArg [R]231
156344578612 rs1345766074 N.D. synonymousAArg [R]331
contig referenceGArg [R]331
156344579613 rs757073458 0.003byFreq missenseGGlu [E]132
contig referenceALys [K]132
156344580614 rs1347448512 N.D. missenseGArg [R]232
contig referenceALys [K]232
156344581615 rs1198904722 N.D. synonymousGLys [K]332
contig referenceALys [K]332
156344582616 rs778760498 0.000 nonsenseT133
contig referenceCArg [R]133
156344583617 rs1488623227 N.D. missenseAGln [Q]233
contig referenceGArg [R]233
156344584618 rs745487169 0.000byFreq synonymousTArg [R]333
contig referenceAArg [R]333
156344586620 rs757994622 0.000 missenseATyr [Y]234
missenseCSer [S]234
contig referenceGCys [C]234
156344589623 rs1014551583 N.D. missenseCPro [P]235
contig referenceTLeu [L]235
156344597631 rs750206304 N.D. missenseCLeu [L]138
contig referenceTPhe [F]138
156344598632 rs1052197017 N.D. missenseGCys [C]238
contig referenceTPhe [F]238
156344604638 rs1297825863 N.D. missenseGArg [R]240
contig referenceTLeu [L]240
156344606640 rs769047953 0.000byFreq missenseTPhe [F]141
contig referenceCLeu [L]141
156344610644 rs770112094 0.000byFreq missenseCPro [P]242
contig referenceTLeu [L]242
156344611645 rs1374327236 N.D. synonymousTLeu [L]342
contig referenceCLeu [L]342
156344616650 rs1419851820 N.D. missenseGSer [S]244
contig referenceTIle [I]244
156344626660 rs773487589 0.000 synonymousALeu [L]347
contig referenceGLeu [L]347
156344627661 rs556208970 0.000With1000GenomeData0.0002 missenseAMet [M]148
missenseCLeu [L]148
missenseTLeu [L]148
contig referenceGVal [V]148
156344630664 rs1156316973 N.D. missenseGAsp [D]149
contig referenceAAsn [N]149
156344635669 rs774295723 0.000 synonymousALeu [L]350
contig referenceGLeu [L]350
156344637671 rs1418644674 N.D. missenseAAsp [D]251
contig referenceCAla [A]251
156344638672 rs1021837057 N.D. synonymousTAla [A]351
contig referenceCAla [A]351
156344645679 rs200671745 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGVal [V]154
contig referenceAIle [I]154
156344659693 rs991798922 N.D. missenseCAsn [N]358
contig referenceALys [K]358
156344660694 rs1274415049 N.D. missenseAIle [I]159
missenseTPhe [F]159
contig referenceGVal [V]159
156344663697 rs1002196143 N.D. missenseGVal [V]160
contig referenceAMet [M]160
156344664698 rs764153825 0.000 missenseCThr [T]260
contig referenceTMet [M]260
156344666700 rs1218958411 N.D. missenseGAsp [D]161
contig referenceAAsn [N]161
156344668702 rs1283939188 N.D. synonymousTAsn [N]361
contig referenceCAsn [N]361
156344672706 rs1435063854 N.D. missenseTSer [S]163
contig referenceAThr [T]163
156344675709 rs753808210 0.000 missenseGVal [V]164
contig referenceAIle [I]164
156344676710 rs376780156 0.000byClusterbyFreq missenseCThr [T]264
contig referenceTIle [I]264
156508601712 rs1434005237 N.D. missenseAAsn [N]165
contig referenceGAsp [D]165
156508602713 rs769883857 0.000 missenseGGly [G]265
contig referenceAAsp [D]265
156508603714 rs1357504679 N.D. synonymousCAsp [D]365
contig referenceTAsp [D]365
156508604715 rs1434256166 N.D. missenseAArg [R]166
contig referenceGGly [G]166
156508611722 rs773178043 0.000 missenseCAla [A]268
contig referenceGGly [G]268
156508612723 rs1361141828 N.D. synonymousGGly [G]368
contig referenceAGly [G]368
156508614725 rs1418824564 N.D. frame shiftTPro [P]270
contig reference-Leu [L]270
156508615726 rs1180476441 N.D. synonymousTAsn [N]369
contig referenceCAsn [N]369
156508620731 rs776240936 0.000byClusterbyFreq missenseCThr [T]271
contig referenceGArg [R]271
156508620731 rs1414760573 N.D. frame shift-Ser [S]272
contig referenceGIle [I]272
156508630741 rs1261348054 N.D. synonymousGGlu [E]374
contig referenceAGlu [E]374
156508634745 rs376659221 0.000byCluster missenseTCys [C]176
contig referenceGGly [G]176
156508637748 rs1164912624 N.D. missenseAIle [I]177
contig referenceCLeu [L]177
156508639750 rs1219456219 N.D. synonymousGLeu [L]377
contig referenceALeu [L]377
156508645756 rs759198194 0.000 synonymousGLeu [L]379
contig referenceALeu [L]379
156508651762 rs779825787 0.000 synonymousGGly [G]381
contig referenceAGly [G]381
156508657768 rs1348759871 N.D. synonymousGSer [S]383
contig referenceTSer [S]383
156508663774 rs529830918 0.000With1000GenomeData0.0002 synonymousTPhe [F]385
contig referenceCPhe [F]385
156508666777 rs755568661 0.000byFreq synonymousGLeu [L]386
contig referenceALeu [L]386
156508670781 rs1489575164 N.D. missenseTSer [S]188
contig referenceCPro [P]188
156508672783 rs201071631 0.000byClusterWith1000GenomeData0.0002 synonymousAPro [P]388
contig referenceTPro [P]388
156508673784 rs754342073 0.000 missenseGVal [V]189
contig referenceCLeu [L]189
156508675786 rs61742484 0.480byFreq synonymousTLeu [L]389
contig referenceCLeu [L]389
156508678789 rs756724874 0.000 -391
156508679790 rs768114319 N.D. missenseAThr [T]191
contig referenceGAla [A]191
156508681792 rs1453972620 N.D. synonymousTAla [A]391
contig referenceCAla [A]391
156508682793 rs1159364901 N.D. missenseCGln [Q]192
contig referenceALys [K]192
156508689800 rs1011935965 N.D. missenseCThr [T]294
contig referenceTIle [I]294
156508690801 rs779325208 0.000byFreq synonymousTIle [I]394
contig referenceCIle [I]394
156508693804 rs1421460814 N.D. missenseTHis [H]395
contig referenceGGln [Q]395
156508696807 rs746179885 0.000byFreq synonymousASer [S]396
contig referenceCSer [S]396
156508697808 rs758700138 0.000 nonsenseT197
contig referenceCArg [R]197
156508698809 rs45559835 0.086byClusterbyFreqWith1000GenomeData0.0190 missenseAGln [Q]297
contig referenceGArg [R]297
156508699810 rs1448536906 N.D. synonymousGArg [R]397
contig referenceAArg [R]397
156508700811 rs1437006739 N.D. missenseTSer [S]198
contig referenceCPro [P]198
156508702813 rs1175163596 N.D. synonymousGPro [P]398
contig referenceAPro [P]398
156589231814 rs1199660318 N.D. missenseASer [S]199
contig referenceGGly [G]199
156589232815 rs955284985 N.D. missenseTVal [V]299
contig referenceGGly [G]299
156589234817 rs1436273126 N.D. missenseCHis [H]1100
contig referenceAAsn [N]1100
156589236819 rs747229389 0.000 synonymousCAsn [N]3100
contig referenceTAsn [N]3100
156589237820 rs1181231760 N.D. missenseAThr [T]1101
contig referenceGAla [A]1101
156589238821 rs998747913 N.D. missenseTVal [V]2101
contig referenceCAla [A]2101
156589240823 rs868328526 N.D.byCluster missenseAMet [M]1102
contig referenceCLeu [L]1102
156589245828 rs1134822 N.D. synonymousTTyr [Y]3103
contig referenceCTyr [Y]3103
156589246829 rs989244785 N.D. missenseCLeu [L]1104
contig referenceTPhe [F]1104
156589258841 rs1473099395 N.D. missenseGGly [G]1108
contig referenceAArg [R]1108
156589259842 rs1482859829 N.D. missenseCThr [T]2108
contig referenceGArg [R]2108
156589267850 rs755068992 0.000 missenseTSer [S]1111
contig referenceAThr [T]1111
156589271854 rs1203352894 N.D. missenseCAla [A]2112
contig referenceTVal [V]2112
156589276859 rs760206240 0.000 missenseGVal [V]1114
contig referenceAIle [I]1114
156589283866 rs1460786886 N.D. missenseGSer [S]2116
contig referenceAAsn [N]2116
156589286869 rs1031343849 N.D. missenseGGly [G]2117
contig referenceAAsp [D]2117
156589288871 rs748107425 0.000byCluster missenseALys [K]1118
missenseGGlu [E]1118
contig referenceCGln [Q]1118
156589290873 rs770930747 0.000 missenseTHis [H]3118
contig referenceGGln [Q]3118
156589294877 rs956992133 N.D. missenseGGlu [E]1120
contig referenceALys [K]1120
156589295878 rs1385323214 N.D. missenseCThr [T]2120
contig referenceALys [K]2120
156589297880 rs1188959668 N.D. missenseAMet [M]1121
contig referenceGVal [V]1121
156589298881 rs778769190 0.000 missenseGGly [G]2121
contig referenceTVal [V]2121
156589299882 rs1327634775 N.D. synonymousTVal [V]3121
contig referenceGVal [V]3121
156589300883 rs1340493407 N.D. synonymousTLeu [L]1122
contig referenceCLeu [L]1122
156589306889 rs745708013 0.000byCluster nonsenseT1124
contig referenceCGln [Q]1124
156589308891 rs1292054918 N.D. synonymousAGln [Q]3124
contig referenceGGln [Q]3124
156589314897 rs771827103 0.000 missenseGMet [M]3126
contig referenceAIle [I]3126
156589317900 rs1219690205 N.D. synonymousCThr [T]3127
contig referenceAThr [T]3127
156594932902 rs756122536 0.000 missenseAAsp [D]2128
contig referenceGGly [G]2128
156594933903 rs778865364 0.000 synonymousCGly [G]3128
contig referenceTGly [G]3128
156594935905 rs75282125 N.D.byCluster missenseAGln [Q]2129
contig referenceCPro [P]2129
156594936906 rs80066854 0.500 synonymousCPro [P]3129
contig referenceAPro [P]3129
156594938908 rs1444996617 N.D. missenseGArg [R]2130
contig referenceALys [K]2130
156594946916 rs746717495 0.000 missenseCGln [Q]1133
contig referenceGGlu [E]1133
156594948918 rs768389032 0.000 missenseCAsp [D]3133
contig referenceAGlu [E]3133
156594950920 rs776098396 0.000 missenseTVal [V]2134
contig referenceCAla [A]2134
156594951921 rs190935424 0.000byClusterbyFreqWith1000GenomeData0.0010 synonymousCAla [A]3134
contig referenceTAla [A]3134
156594954924 rs569852808 0.000byClusterWith1000GenomeData0.0002 synonymousCTyr [Y]3135
contig referenceTTyr [Y]3135
156594957927 rs1186105246 N.D. synonymousCGly [G]3136
contig referenceTGly [G]3136
156594958928 rs1383430588 N.D. frame shift-Asn [N]1138
contig referenceALys [K]1138
156594970940 rs1382070084 N.D. missenseTLeu [L]1141
contig referenceGVal [V]1141
156594983953 rs1324593212 N.D. missenseGCys [C]2145
contig referenceCSer [S]2145
156594985955 rs1373517526 N.D. missenseAArg [R]1146
contig referenceGGly [G]1146
156594986956 rs1438925313 N.D. missenseAGlu [E]2146
contig referenceGGly [G]2146
156594994964 rs773913280 0.000 missenseGVal [V]1149
contig referenceCLeu [L]1149
156594995965 rs1354428992 N.D. missenseCPro [P]2149
contig referenceTLeu [L]2149
156594996966 rs1257378159 N.D. synonymousGLeu [L]3149
contig referenceCLeu [L]3149
156595001971 rs766924806 0.000 missenseTPhe [F]2151
contig referenceCSer [S]2151
156595003973 rs1348429191 N.D. missenseAThr [T]1152
contig referenceGAla [A]1152
156595007977 rs752000538 0.000byClusterbyFreq missenseGGly [G]2153
contig referenceAAsp [D]2153
156595010980 rs759767804 0.000 missenseGSer [S]2154
contig referenceAAsn [N]2154
156595014984 rs1005429699 N.D. synonymousCAsn [N]3155
contig referenceTAsn [N]3155
156595017987 rs767826496 0.000 missenseCAsp [D]3156
contig referenceAGlu [E]3156
156595020990 rs1191299233 N.D. synonymousCVal [V]3157
contig referenceGVal [V]3157
156595021991 rs752828581 0.000 missenseAIle [I]1158
contig referenceGVal [V]1158
156595024994 rs370327314 0.000byCluster missenseAIle [I]1159
contig referenceGVal [V]1159
156595026996 rs756287798 0.000 synonymousGVal [V]3159
contig referenceAVal [V]3159
156595027997 rs1362615818 N.D. frame shiftGAGCTLeu [L]1163
contig reference-Arg [R]1163
156595029999 rs1453634873 N.D. synonymousTGly [G]3160
contig referenceAGly [G]3160
1565950371007 rs777821711 0.000 missenseTIle [I]2163
contig referenceGArg [R]2163
1565950381008 rs1282480627 N.D. synonymousGArg [R]3163
contig referenceAArg [R]3163
1565950391009 rs1313517472 N.D. missenseAIle [I]1164
contig referenceTLeu [L]1164
1565950451015 rs1226418499 N.D. missenseAIle [I]1166
contig referenceGVal [V]1166
1566474681026 rs10071079 0.008byClusterbyFreqWith1000GenomeData0.0070 synonymousAAla [A]3169
synonymousAAla [A]3169
contig referenceGAla [A]3169
contig referenceGAla [A]3169
1566474691027 rs868554008 N.D.byCluster nonsenseT1170
contig referenceGGlu [E]1170
1566474711029 rs368838376 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseCAsp [D]3170
synonymousAGlu [E]3170
contig referenceGGlu [E]3170
1566474721030 rs764237334 0.000byFreq missenseASer [S]1171
contig referenceGGly [G]1171
1566474731031 rs1231277878 N.D. missenseAAsp [D]2171
contig referenceGGly [G]2171
1566474741032 rs1319397990 N.D. frame shift-Ser [S]3172
contig referenceCAThr [T]3172
1566474771035 rs753952200 0.001byFreq synonymousGThr [T]3172
contig referenceAThr [T]3172
1566474781036 rs1307746243 N.D. missenseCLeu [L]1173
missenseTLeu [L]1173
contig referenceGVal [V]1173
1566474791037 rs1446901572 N.D. missenseAGlu [E]2173
contig referenceTVal [V]2173
1566474811039 rs778724633 0.000 frame shift-Ser [S]1174
contig referenceTPhe [F]1174
1566474871045 rs1375612982 N.D. missenseGGlu [E]1176
contig referenceALys [K]1176
1566474881046 rs1249124147 N.D. missenseGArg [R]2176
contig referenceALys [K]2176
1566474891047 rs1479985562 N.D. synonymousGLys [K]3176
contig referenceALys [K]3176
1566474931051 rs1200525320 N.D. missenseGVal [V]1178
contig referenceAIle [I]1178
1566474941052 rs757279786 0.000byFreq missenseCThr [T]2178
contig referenceTIle [I]2178
1566474951053 rs1474496504 N.D. missenseGMet [M]3178
contig referenceAIle [I]3178
1566474991057 rs1187720404 N.D. missenseGAla [A]1180
contig referenceAThr [T]1180
1566475021060 rs1424732181 N.D. missenseTSer [S]1181
contig referenceCPro [P]1181
1566475041062 rs200451694 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGPro [P]3181
contig referenceTPro [P]3181
1566475061064 rs1023848898 N.D. missenseCThr [T]2182
contig referenceAAsn [N]2182
1566475071065 rs1357273041 N.D. synonymousCAsn [N]3182
contig referenceTAsn [N]3182
1566475081066 rs751421543 0.000byFreq missenseAIle [I]1183
contig referenceGVal [V]1183
1566475171075 rs1372716515 N.D. missenseTTyr [Y]1186
contig referenceGAsp [D]1186
1566475191077 rs1466669981 N.D. missenseAGlu [E]3186
contig referenceCAsp [D]3186
1566475261084 rs967944466 N.D. missenseGGlu [E]1189
contig referenceALys [K]1189
1566475271085 rs538002169 0.000With1000GenomeData0.0002 missenseGArg [R]2189
contig referenceALys [K]2189
1566475291087 rs1412814368 N.D. missenseALys [K]1190
contig referenceGGlu [E]1190
1566475341092 rs780862246 0.000byFreq synonymousGLeu [L]3191
contig referenceALeu [L]3191
1567575821096 rs776813977 0.000 synonymousCLeu [L]1193
contig referenceTLeu [L]1193
1567575831097 rs1383924451 N.D. -2195
1567575871101 rs761921165 0.000 synonymousAGlu [E]3194
contig referenceGGlu [E]3194
1567575901104 rs765228244 0.000 synonymousTSer [S]3195
contig referenceCSer [S]3195
1567575931107 rs1214140530 N.D. synonymousGPro [P]3196
contig referenceAPro [P]3196
1567575951109 rs1241850589 N.D. missenseTIle [I]2197
contig referenceCThr [T]2197
1567575961110 rs1469091652 N.D. synonymousAThr [T]3197
synonymousTThr [T]3197
contig referenceCThr [T]3197
1567575971111 rs561825515 0.000With1000GenomeData0.0002 missenseTTrp [W]1198
contig referenceCArg [R]1198
1567575981112 rs750459196 0.000byFreq missenseAGln [Q]2198
missenseCPro [P]2198
missenseTLeu [L]2198
contig referenceGArg [R]2198
1567575991113 rs754875886 0.000byClusterbyFreq synonymousTArg [R]3198
contig referenceGArg [R]3198
1567576001114 rs1177835909 N.D. missenseCPro [P]1199
contig referenceTSer [S]1199
1567576011115 rs1408687929 N.D. missenseTPhe [F]2199
contig referenceCSer [S]2199
1567576061120 rs35375939 N.D. frame shift-1201
contig referenceGVal [V]1201
1567576091123 rs1177189696 N.D. missenseGVal [V]1202
contig referenceAMet [M]1202
1567576111125 rs1003668823 N.D. missenseAIle [I]3202
contig referenceGMet [M]3202
1567576131127 rs1156698266 N.D. missenseTVal [V]2203
contig referenceAGlu [E]2203
1567576141128 rs767446654 0.000 synonymousAGlu [E]3203
contig referenceGGlu [E]3203
1567576171131 rs1461647549 N.D. synonymousAAla [A]3204
contig referenceCAla [A]3204
1567576211135 rs1327580871 N.D. missenseCGln [Q]1206
missenseGGlu [E]1206
contig referenceALys [K]1206
1567576231137 rs1025680390 N.D. synonymousGLys [K]3206
contig referenceALys [K]3206
1567576241138 rs1368320636 N.D. missenseAArg [R]1207
contig referenceGGly [G]1207
1567576271141 rs752456672 0.000 missenseAMet [M]1208
contig referenceGVal [V]1208
1567576291143 rs969424705 N.D. synonymousAVal [V]3208
contig referenceGVal [V]3208
1567576301144 rs1221573683 N.D. missenseALys [K]1209
contig referenceGGlu [E]1209
1567576311145 rs1320660654 N.D. missenseCAla [A]2209
contig referenceAGlu [E]2209
1567576321146 rs755948768 0.000byFreq missenseTAsp [D]3209
contig referenceAGlu [E]3209
1567576351149 rs763051644 0.000 synonymousTIle [I]3210
contig referenceCIle [I]3210
1567576361150 rs527801800 0.000With1000GenomeData0.0002 missenseCHis [H]1211
contig referenceAAsn [N]1211
1567576381152 rs756882037 0.000 missenseALys [K]3211
missenseGLys [K]3211
contig referenceTAsn [N]3211
1567576411155 rs1335821086 N.D. synonymousGAla [A]3212
synonymousTAla [A]3212
contig referenceAAla [A]3212
1567576451159 rs1215936749 N.D. missenseAThr [T]1214
contig referenceGAla [A]1214
1567576471161 rs778303434 0.000byFreq synonymousCAla [A]3214
contig referenceTAla [A]3214
1567576511165 rs1468185459 N.D. missenseCHis [H]1216
contig referenceAAsn [N]1216
1567576551169 rs745321598 0.000 missenseCThr [T]2217
contig referenceTMet [M]2217
1567576611175 rs1369919728 N.D. frame shift-Pro [P]2220
contig referenceCThr [T]2220
1567576631177 rs1234624557 N.D. missenseGAla [A]1220
contig referenceAThr [T]1220
1567576641178 rs1471128348 N.D. missenseTIle [I]2220
contig referenceCThr [T]2220
1567576651179 rs980851803 N.D. synonymousAThr [T]3220
contig referenceCThr [T]3220
1567576681182 rs1175344271 N.D. nonsenseA3221
contig referenceCCys [C]3221
1567576741188 rs772491019 0.000 synonymousGThr [T]3223
contig referenceAThr [T]3223
1567576821196 rs1475448606 N.D. missenseALys [K]2226
contig referenceGArg [R]2226
1567576851199 rs1363840857 N.D. missenseCPro [P]2227
contig referenceTLeu [L]2227
1567576861200 rs748188247 0.000 frame shift-Asn [N]3228
contig referenceGGlu [E]3228
1567576921206 rs1166804343 N.D. synonymousTSer [S]3229
contig referenceCSer [S]3229
1567576991213 rs780562365 0.000 missenseAArg [R]1232
contig referenceGGly [G]1232
1567577001214 rs747423822 0.000 missenseAGlu [E]2232
contig referenceGGly [G]2232
1567577021216 rs768979513 0.000byFreq missenseALys [K]1233
contig referenceGGlu [E]1233
1567592191221 rs1350053205 N.D. synonymousCIle [I]3234
contig referenceTIle [I]3234
1567592201222 rs1232171548 N.D. missenseGGlu [E]1235
contig referenceALys [K]1235
1567592231225 rs1278173959 N.D. missenseGVal [V]1236
contig referenceTLeu [L]1236
1567592251227 rs761623268 0.000 synonymousGLeu [L]3236
contig referenceALeu [L]3236
1567592321234 rs373871327 0.000byCluster missenseAThr [T]1239
contig referenceGAla [A]1239
1567592331235 rs377153196 0.000byClusterbyFreq missenseTVal [V]2239
contig referenceCAla [A]2239
1567592341236 rs145430692 0.000byClusterbyFreqWith1000GenomeData synonymousAAla [A]3239
contig referenceGAla [A]3239
1567592381240 rs757914401 0.000 missenseGVal [V]1241
contig referenceAIle [I]1241
1567592421244 rs1253236338 N.D. missenseALys [K]2242
contig referenceGArg [R]2242
1567592431245 rs765862745 0.000 missenseCSer [S]3242
contig referenceGArg [R]3242
1567592451247 rs773477845 0.000 ACCPro [P]2244
1567592461248 rs1362282180 N.D. synonymousGLeu [L]3243
contig referenceALeu [L]3243
1567592501252 rs934639739 N.D. missenseGGly [G]1245
synonymousCArg [R]1245
contig referenceAArg [R]1245
1567592591261 rs755509278 0.000byFreq missenseTTyr [Y]1248
contig referenceCHis [H]1248
1567592611263 rs1160680799 N.D. synonymousCHis [H]3248
contig referenceTHis [H]3248
1567592641266 rs1383187882 N.D. synonymousTGly [G]3249
contig referenceAGly [G]3249
1567592661268 rs781628137 0.000byFreq missenseTPhe [F]2250
contig referenceCSer [S]2250
1567592721274 rs199520526 0.000byClusterbyFreq missenseTMet [M]2252
contig referenceCThr [T]2252
1567592741276 rs1438864299 N.D. missenseGAla [A]1253
contig referenceCPro [P]1253
1567592781280 rs372607729 0.000byCluster missenseALys [K]2254
missenseTIle [I]2254
contig referenceCThr [T]2254
1567592791281 rs1330480644 N.D. synonymousTThr [T]3254
contig referenceAThr [T]3254
1567592841286 rs578056399 0.000byFreqWith1000GenomeData0.0002 missenseTMet [M]2256
contig referenceCThr [T]2256
1567592881290 rs774579663 0.000byFreq synonymousAArg [R]3257
contig referenceGArg [R]3257
1567592891291 rs1224803345 N.D. missenseGGlu [E]1258
contig referenceCGln [Q]1258
1567592901292 rs1207864818 N.D. -2259
1567592901292 rs1273480304 N.D. missenseCPro [P]2258
contig referenceAGln [Q]2258
1567592971299 rs745905613 0.000 synonymousGVal [V]3260
contig referenceCVal [V]3260
1567593001302 rs768741617 0.000 synonymousTPhe [F]3261
contig referenceCPhe [F]3261
1567593031305 rs1197695649 N.D. synonymousAGlu [E]3262
contig referenceGGlu [E]3262
1567593091311 rs367616773 0.000byClusterbyFreq missenseGTrp [W]3264
synonymousTCys [C]3264
contig referenceCCys [C]3264
1567593101312 rs772185467 0.000byClusterbyFreq missenseAIle [I]1265
contig referenceGVal [V]1265
1567593141316 rs1184513379 N.D. missenseTPhe [F]2266
contig referenceGCys [C]2266
1567593151317 rs371850230 0.000byClusterbyFreq nonsenseA3266
synonymousTCys [C]3266
contig referenceCCys [C]3266
1567593161318 rs772799792 0.000 missenseAThr [T]1267
contig referenceGAla [A]1267
1567593201322 rs762681488 0.000 missenseGSer [S]2268
contig referenceAAsn [N]2268
1567593341336 rs375029639 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTLeu [L]1273
contig referenceCLeu [L]1273
1567593351337 rs751089534 0.000 missenseAGln [Q]2273
contig referenceTLeu [L]2273
1567593361338 rs563686455 0.000With1000GenomeData0.0002 synonymousTLeu [L]3273
contig referenceGLeu [L]3273
1567593381340 rs768051118 0.000 missenseTPhe [F]2274
contig referenceCSer [S]2274
1567593491351 rs753240054 0.000byFreq missenseAThr [T]1278
missenseTSer [S]1278
contig referenceGAla [A]1278
1567593501352 rs1476643412 N.D. missenseGGly [G]2278
contig referenceCAla [A]2278
1567593521354 rs778210302 0.000 missenseAArg [R]1279
contig referenceGGly [G]1279
1567593531355 rs1042166566 N.D. missenseCAla [A]2279
contig referenceGGly [G]2279
1567593541356 rs1227601847 N.D. synonymousAGly [G]3279
contig referenceGGly [G]3279
1567593581360 rs369434183 0.000byCluster missenseGAla [A]1281
missenseTSer [S]1281
contig referenceAThr [T]1281
1567593671369 rs745997663 0.000 missenseTLeu [L]1284
contig referenceAIle [I]1284
1567593681370 rs772247898 0.000 missenseCThr [T]2284
contig referenceTIle [I]2284
1567593691371 rs767778336 N.D. missenseGMet [M]3284
contig referenceAIle [I]3284
1567593761378 rs1197015341 N.D. missenseGGly [G]1287
contig referenceASer [S]1287
1567593771379 rs886219536 N.D. missenseAAsn [N]2287
contig referenceGSer [S]2287
1567593781380 rs1323836484 N.D. frame shift-Glu [E]3288
contig reference(10bp)Val [V]3288
1567593821384 rs1249092205 N.D. missenseCArg [R]1289
contig referenceTCys [C]1289
1567593901392 rs1261902695 N.D. GTrp [W]3291
contig referenceA3291