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SNP linked to Gene (geneID:2070) 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): 15
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017010375.1plus strandXP_016865864.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
XM_017010374.1plus strandXP_016865863.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
XM_017010373.1plus strandXP_016865862.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
XM_017010372.1plus strandXP_016865861.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
XM_017010371.1plus strandXP_016865860.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
XM_017010370.1plus strandXP_016865859.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
XM_017010369.1plus strandXP_016865858.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
XM_017010368.1plus strandXP_016865857.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
XM_005266853.4plus strandXP_005266910.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
XM_005266851.4plus strandXP_005266908.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
NM_172105.3plus strandNP_742103.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
NM_172103.3plus strandNP_742101.2forwardNT_025741.16GRCh38.p7View snp on GeneModel
NM_004100.4plus strandNP_004091.3forwardNT_025741.16GRCh38.p7View snp on GeneModel
NM_001301013.1plus strandNP_001287942.1forwardNT_025741.16GRCh38.p7View snp on GeneModel
NM_001301012.1plus strandNP_001287941.1forwardNT_025741.16GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_001743220.1551, 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
133274782460 rs200593099 0.000byClusterWith1000GenomeData0.0002 missenseCThr [T]21
contig referenceTMet [M]21
133274783461 rs953313876 N.D. missenseCIle [I]31
contig referenceGMet [M]31
133274785463 rs780081930 0.000byFreq missenseGGly [G]22
contig referenceAGlu [E]22
133274786464 rs746916198 0.000 missenseCAsp [D]32
contig referenceAGlu [E]32
133274788466 rs986089427 N.D. missenseGGly [G]23
contig referenceAAsp [D]23
133274789467 rs374322196 0.000byClusterbyFreq synonymousTAsp [D]33
contig referenceCAsp [D]33
133274792470 rs1435550328 N.D. synonymousTSer [S]34
contig referenceCSer [S]34
133274794472 rs780580161 0.000 missenseGArg [R]25
contig referenceAGln [Q]25
133274796474 rs1253239225 N.D. missenseAAsn [N]16
contig referenceGAsp [D]16
133274798476 rs747628106 0.000 synonymousCAsp [D]36
contig referenceTAsp [D]36
133274806484 rs1191543342 N.D. missenseCAla [A]29
contig referenceAGlu [E]29
133274812490 rs1394230343 N.D. missenseTLeu [L]211
contig referenceCSer [S]211
133274813491 rs143613363 0.000byClusterbyFreq synonymousGSer [S]311
contig referenceASer [S]311
133382396496 rs775725988 0.000 missenseGArg [R]213
contig referenceALys [K]213
133382397497 rs758104829 N.D. missenseCAsn [N]313
contig referenceGLys [K]313
133382398498 rs552148856 0.000byFreqWith1000GenomeData0.0002 missenseGGlu [E]114
contig referenceALys [K]114
133382401501 rs1359824142 N.D. missenseCPro [P]115
contig referenceAThr [T]115
133382402502 rs769070323 0.000byFreq missenseTMet [M]215
contig referenceCThr [T]215
133382403503 rs145724851 0.000byCluster synonymousAThr [T]315
contig referenceGThr [T]315
133382409509 rs1038991613 N.D. synonymousGThr [T]317
contig referenceAThr [T]317
133382417517 rs779385322 0.000 missenseGGly [G]220
contig referenceAAsp [D]220
133382425525 rs1293420539 N.D. nonsenseT123
contig referenceCGln [Q]123
133382427527 rs1356813658 N.D. synonymousGGln [Q]323
contig referenceAGln [Q]323
133382433533 rs765403139 0.000byFreq synonymousAGln [Q]325
contig referenceGGln [Q]325
133382438538 rs1272167388 N.D. missenseTPhe [F]227
contig referenceCSer [S]227
133446634546 rs1026869914 N.D. missenseGVal [V]130
contig referenceAMet [M]130
133446636548 rs779867726 0.000 frame shift-Lys [K]331
contig referenceGGlu [E]331
133446639551 rs1274959823 N.D. missenseCAsp [D]331
contig referenceAGlu [E]331
133446649561 rs35562371 0.005byClusterbyFreqWith1000GenomeData0.0058 missenseGVal [V]135
missenseGVal [V]135
synonymousTLeu [L]135
synonymousTLeu [L]135
contig referenceCLeu [L]135
contig referenceCLeu [L]135
133446656568 rs372319742 0.000byClusterbyFreq missenseAAsn [N]237
contig referenceGSer [S]237
133446657569 rs35863035 0.003byClusterbyFreqWith1000GenomeData0.0048 synonymousCSer [S]337
contig referenceTSer [S]337
133446659571 rs759285865 0.000 missenseTLeu [L]238
contig referenceCPro [P]238
133446662574 rs1221439195 N.D. missenseGArg [R]239
contig referenceAHis [H]239
133446670582 rs1251312987 N.D. missenseAIle [I]142
contig referenceGVal [V]142
133446671583 rs1017697829 N.D. missenseCAla [A]242
contig referenceTVal [V]242
133446674586 rs34866073 N.D. frame shiftGArg [R]244
contig reference-Gly [G]244
133446683595 rs1439822731 N.D. missenseGGly [G]246
contig referenceAAsp [D]246
133446686598 rs767335903 0.000 missenseAAsn [N]247
contig referenceCThr [T]247
133446687599 rs752686762 0.000 synonymousCThr [T]347
synonymousGThr [T]347
contig referenceTThr [T]347
133446688600 rs1274319480 N.D. missenseGAla [A]148
contig referenceCPro [P]148
133446694606 rs932450184 N.D. missenseCArg [R]150
missenseGGly [G]150
missenseTCys [C]150
contig referenceASer [S]150
133446698610 rs542906126 0.000byFreqWith1000GenomeData0.0002 missenseTPhe [F]251
contig referenceCSer [S]251
133446701613 rs763983145 0.000 missenseCThr [T]252
missenseGArg [R]252
missenseTIle [I]252
contig referenceALys [K]252
133446704616 rs753371831 0.000byFreq missenseCPro [P]253
contig referenceTLeu [L]253
133446707619 rs756773330 0.000 missenseTVal [V]254
contig referenceAGlu [E]254
133446728640 rs778473535 0.000 missenseTIle [I]261
contig referenceCThr [T]261
133446733645 rs372209289 N.D. missenseAIle [I]163
contig referenceGVal [V]163
133446735647 rs1392830385 N.D. AAALys [K]363
133446737649 rs1414960117 N.D. missenseAAsn [N]264
contig referenceCThr [T]264
133446740652 rs1326459683 N.D. missenseGArg [R]265
contig referenceCThr [T]265
133446745657 rs375560878 0.000byCluster missenseAArg [R]167
contig referenceGGly [G]167
133446747659 rs183101904 0.000byClusterWith1000GenomeData0.0002 synonymousAGly [G]367
contig referenceGGly [G]367
133448112668 rs1179897224 N.D. synonymousCGly [G]370
contig referenceGGly [G]370
133448113669 rs34848901 N.D. frame shiftGGly [G]171
contig reference-Glu [E]171
133448113669 rs537561870 0.000byFreqWith1000GenomeData0.0004 missenseALys [K]171
contig referenceGGlu [E]171
133448114670 rs1368513667 N.D. missenseGGly [G]271
contig referenceAGlu [E]271
133448115671 rs200042576 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCAsp [D]371
contig referenceAGlu [E]371
133448117673 rs200688814 0.000byCluster missenseGSer [S]272
contig referenceAAsn [N]272
133448119675 rs970732881 N.D. missenseGVal [V]173
contig referenceAMet [M]173
133448124680 rs1225373919 N.D. frame shift-Phe [F]375
contig referenceTVal [V]375
133448124680 rs1458388711 N.D. synonymousAThr [T]374
contig referenceTThr [T]374
133448135691 rs201644472 0.002byCluster missenseGArg [R]278
contig referenceCThr [T]278
133448137693 rs1157930633 N.D. missenseAThr [T]179
contig referenceGAla [A]179
133448142698 rs1400422193 N.D. missenseGGlu [E]380
contig referenceCAsp [D]380
133448144700 rs922202185 N.D. nonsenseA281
contig referenceGTrp [W]281
133448153709 rs1215782368 N.D. missenseAAsn [N]284
contig referenceGSer [S]284
133448154710 rs758076073 0.000byFreq missenseAArg [R]384
contig referenceTSer [S]384
133448159715 rs779810823 0.000 missenseGSer [S]286
contig referenceAAsn [N]286
133448162718 rs753132753 0.000byFreq missenseGSer [S]287
missenseTIle [I]287
contig referenceCThr [T]287
133448163719 rs567673223 0.000With1000GenomeData0.0002 synonymousTThr [T]387
contig referenceCThr [T]387
133448164720 rs148246473 0.000byCluster missenseAThr [T]188
contig referenceCPro [P]188
133448166722 rs1181785379 N.D. synonymousTPro [P]388
contig referenceCPro [P]388
133448167723 rs1190456495 N.D. missenseAThr [T]189
contig referenceTSer [S]189
133448173729 rs1356492542 N.D. missenseTSer [S]191
contig referenceGAla [A]191
133448176732 rs1422243347 N.D. missenseGAla [A]192
contig referenceAThr [T]192
133448178734 rs199973092 0.000byClusterbyFreq synonymousTThr [T]392
contig referenceAThr [T]392
133456556736 rs1344229695 N.D. missenseCThr [T]293
contig referenceTMet [M]293
133456562742 rs766182495 0.000byFreq missenseCPro [P]295
contig referenceTLeu [L]295
133456567747 rs1281362848 N.D. missenseAThr [T]197
contig referenceGAla [A]197
133456570750 rs751225747 0.000 missenseAIle [I]198
contig referenceGVal [V]198
133456575755 rs865979147 N.D.byCluster missenseTAsn [N]399
contig referenceALys [K]399
133456578758 rs1416734443 N.D. synonymousGThr [T]3100
contig referenceAThr [T]3100
133456581761 rs1052693032 N.D. synonymousAGlu [E]3101
contig referenceGGlu [E]3101
133456582762 rs756612363 0.000 missenseAThr [T]1102
missenseTSer [S]1102
contig referenceCPro [P]1102
133456583763 rs1378777738 N.D. missenseGArg [R]2102
contig referenceCPro [P]2102
133456584764 rs778265878 0.000byFreq synonymousGPro [P]3102
contig referenceCPro [P]3102
133456593773 rs754088992 0.000 synonymousTSer [S]3105
contig referenceCSer [S]3105
133456602782 rs757784150 0.000 synonymousGThr [T]3108
contig referenceCThr [T]3108
133456603783 rs76981727 0.000byClusterbyFreq missenseCPro [P]1109
contig referenceAThr [T]1109
133456607787 rs746012898 0.000byFreq missenseTVal [V]2110
contig referenceCAla [A]2110
133456610790 rs772111281 0.000 missenseTMet [M]2111
contig referenceCThr [T]2111
133456611791 rs780325672 0.000byFreq synonymousAThr [T]3111
synonymousTThr [T]3111
contig referenceGThr [T]3111
133456625805 rs747223436 0.000byFreq missenseTVal [V]2116
contig referenceCAla [A]2116
133456626806 rs373496105 0.000byCluster synonymousAAla [A]3116
synonymousTAla [A]3116
contig referenceGAla [A]3116
133456627807 rs1044216762 N.D. missenseTPhe [F]1117
contig referenceCLeu [L]1117
133456630810 rs768809523 0.000byFreq missenseAAsn [N]1118
contig referenceGAsp [D]1118
133456631811 rs776903263 N.D. missenseTVal [V]2118
contig referenceAAsp [D]2118
133456637817 rs905249704 N.D. missenseCSer [S]2120
contig referenceTPhe [F]2120
133456641821 rs1002212974 N.D. synonymousCThr [T]3121
contig referenceTThr [T]3121
133461117832 rs770929581 0.000 missenseCThr [T]2125
contig referenceTIle [I]2125
133461120835 rs1266644372 N.D. missenseGArg [R]2126
contig referenceCThr [T]2126
133461122837 rs141340245 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]1127
contig referenceASer [S]1127
133461124839 rs759073301 0.000byFreq missenseGArg [R]3127
synonymousCSer [S]3127
contig referenceTSer [S]3127
133461133848 rs200471957 0.021byClusterbyFreq nonsenseA3130
synonymousTTyr [Y]3130
contig referenceCTyr [Y]3130
133461135850 rs774977463 0.002byFreq missenseAAsn [N]2131
contig referenceGSer [S]2131
133461136851 rs762309104 0.000byFreq missenseAArg [R]3131
contig referenceCSer [S]3131
133461137852 rs765509415 0.000 missenseAThr [T]1132
contig referenceCPro [P]1132
133461139854 rs750732994 0.000 synonymousAPro [P]3132
contig referenceCPro [P]3132
133461140855 rs758910343 0.000byFreq synonymousCArg [R]1133
contig referenceAArg [R]1133
133461143858 rs766832226 0.000 missenseAThr [T]1134
contig referenceTSer [S]1134
133461150865 rs751662203 0.000 missenseGArg [R]2136
contig referenceAHis [H]2136
133461153868 rs754993172 0.000byFreq missenseGArg [R]2137
contig referenceAGln [Q]2137
133461158873 rs146999911 0.000byClusterbyFreq missenseAThr [T]1139
contig referenceTSer [S]1139
133461163878 rs746766352 N.D. synonymousGPro [P]3140
contig referenceAPro [P]3140
133461164879 rs1258224963 N.D. nonsenseT1141
contig referenceCGln [Q]1141
133461168883 rs755994941 0.000byFreq missenseAGln [Q]2142
missenseCPro [P]2142
contig referenceTLeu [L]2142
133461170885 rs1421536947 N.D. missenseCHis [H]1143
contig referenceTTyr [Y]1143
133461171886 rs749021618 0.000 missenseGCys [C]2143
contig referenceATyr [Y]2143
133461172887 rs771021236 0.000 synonymousCTyr [Y]3143
contig referenceTTyr [Y]3143
133461177892 rs868169482 N.D. missenseTPhe [F]2145
contig referenceCSer [S]2145
133462338899 rs1360378106 N.D. synonymousGPro [P]3147
contig referenceCPro [P]3147
133462339900 rs756290444 0.000 missenseCHis [H]1148
contig referenceTTyr [Y]1148
133462340901 rs939001947 N.D. missenseGCys [C]2148
missenseTPhe [F]2148
contig referenceATyr [Y]2148
133462348909 rs201210733 0.000byClusterWith1000GenomeData0.0002 missenseGVal [V]1151
contig referenceAIle [I]1151
133462350911 rs1242122847 N.D. synonymousCIle [I]3151
contig referenceTIle [I]3151
133462351912 rs753705589 0.000 missenseGVal [V]1152
contig referenceCLeu [L]1152
133462360921 rs543278630 0.000With1000GenomeData0.0002 missenseTSer [S]1155
contig referenceCPro [P]1155
133462361922 rs1196704604 N.D. missenseTLeu [L]2155
contig referenceCPro [P]2155
133462365926 rs1339141341 N.D. synonymousTAla [A]3156
contig referenceAAla [A]3156
133462375936 rs1268878098 N.D. missenseGVal [V]1160
contig referenceAMet [M]1160
133462376937 rs779063028 0.000 missenseCThr [T]2160
missenseGArg [R]2160
contig referenceTMet [M]2160
133462381942 rs1283835268 N.D. missenseAThr [T]1162
contig referenceGAla [A]1162
133462382943 rs745782248 0.000byFreq missenseAAsp [D]2162
contig referenceCAla [A]2162
133462385946 rs771991761 0.000 missenseGCys [C]2163
contig referenceATyr [Y]2163
133462386947 rs768669287 N.D. synonymousCTyr [Y]3163
contig referenceTTyr [Y]3163
133462387948 rs886654597 N.D. missenseAThr [T]1164
contig referenceGAla [A]1164
133462401962 rs1259668187 N.D. synonymousAGln [Q]3168
contig referenceGGln [Q]3168
133462405966 rs779439055 0.000 missenseCPro [P]1170
contig referenceTSer [S]1170
133462406967 rs184768806 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTLeu [L]2170
contig referenceCSer [S]2170
133462407968 rs768216133 0.000 synonymousASer [S]3170
synonymousTSer [S]3170
contig referenceGSer [S]3170
133462408969 rs1471362858 N.D. missenseCArg [R]1171
contig referenceGGly [G]1171
133462409970 rs1157191952 N.D. missenseTVal [V]2171
contig referenceGGly [G]2171
133462410971 rs776245355 0.000byFreq synonymousAGly [G]3171
contig referenceGGly [G]3171
133462419980 rs1435863664 N.D. synonymousAGln [Q]3174
contig referenceGGln [Q]3174
133462420981 rs763350623 0.000byFreq missenseAThr [T]1175
contig referenceCPro [P]1175
133462425986 rs199701258 0.000byCluster synonymousTAla [A]3176
contig referenceCAla [A]3176
133462426987 rs776409783 0.000byFreq missenseAIle [I]1177
contig referenceGVal [V]1177
133462431992 rs1283722822 N.D. synonymousTTyr [Y]3178
contig referenceCTyr [Y]3178
133462437998 rs1409090191 N.D. synonymousTAla [A]3180
contig referenceCAla [A]3180
1334624441005 rs1394049485 N.D. nonsenseT1183
contig referenceCGln [Q]1183
1334624491010 rs759974412 0.000byFreq synonymousGThr [T]3184
contig referenceAThr [T]3184
1334624511012 rs1394451066 N.D. missenseCAla [A]2185
contig referenceGGly [G]2185
1334624541015 rs767996783 0.000byFreq missenseGArg [R]2186
contig referenceAGln [Q]2186
1334624551016 rs752747096 0.000 synonymousAGln [Q]3186
contig referenceGGln [Q]3186
1334624601021 rs200624669 0.002 missenseGCys [C]2188
contig referenceATyr [Y]2188
1334624631024 rs760755612 0.000 missenseAAsn [N]2189
contig referenceGSer [S]2189
1334624671028 rs796638750 N.D. missenseTPhe [F]3190
contig referenceGLeu [L]3190
1334624691030 rs1234921194 N.D. missenseGArg [R]2191
contig referenceCPro [P]2191
1334624711032 rs764456726 0.000 missenseGAla [A]1192
contig referenceAThr [T]1192
1334624751036 rs866072739 N.D.byCluster missenseGCys [C]2193
missenseTPhe [F]2193
contig referenceATyr [Y]2193
1334624761037 rs747954279 0.000 synonymousTTyr [Y]3193
contig referenceCTyr [Y]3193
1334624771038 rs1199874172 N.D. missenseAAsn [N]1194
contig referenceGAsp [D]1194
1334626231041 rs776040329 0.000byFreq missenseAMet [M]1195
synonymousCLeu [L]1195
contig referenceTLeu [L]1195
1334626261044 rs764258439 0.000 missenseASer [S]1196
missenseTCys [C]1196
contig referenceGGly [G]1196
1334626271045 rs776796938 0.000 missenseAAsp [D]2196
contig referenceGGly [G]2196
1334626321050 rs762131121 0.000 missenseGVal [V]1198
contig referenceAMet [M]1198
1334626391057 rs1195818553 N.D. missenseTLeu [L]2200
contig referenceCPro [P]2200
1334626411059 rs765515937 0.000byFreq missenseAThr [T]1201
contig referenceGAla [A]1201
1334626501068 rs750212279 0.000 missenseGAla [A]1204
contig referenceAThr [T]1204
1334626561074 rs1314459538 N.D. missenseGGly [G]1206
contig referenceASer [S]1206
1334626581076 rs1415193862 N.D. synonymousCSer [S]3206
contig referenceTSer [S]3206
1334626651083 rs956644824 N.D. missenseCPro [P]1209
contig referenceTSer [S]1209
1334626701088 rs989395256 N.D. synonymousGGln [Q]3210
contig referenceAGln [Q]3210
1334626711089 rs1171687756 N.D. missenseCPro [P]1211
contig referenceAThr [T]1211
1334626721090 rs758194534 0.000 missenseTIle [I]2211
contig referenceCThr [T]2211
1334626751093 rs774041373 N.D. missenseCPro [P]2212
contig referenceAGln [Q]2212
1334626761094 rs951379319 N.D. missenseTHis [H]3212
contig referenceGGln [Q]3212
1334626821100 rs766270154 0.000byFreq synonymousGPro [P]3214
contig referenceAPro [P]3214
1334626871105 rs751512877 0.000 missenseGArg [R]2216
contig referenceAGln [Q]2216
1334626921110 rs754538025 0.000byFreq missenseASer [S]1218
contig referenceGGly [G]1218
1334626971115 rs780691306 0.001byFreq missenseGTrp [W]3219
contig referenceCCys [C]3219
1334626981116 rs1295022587 N.D. missenseGVal [V]1220
contig referenceCLeu [L]1220
1334626991117 rs747586138 0.000 missenseGArg [R]2220
contig referenceTLeu [L]2220
1334627001118 rs755795461 0.000byFreq synonymousALeu [L]3220
synonymousTLeu [L]3220
contig referenceCLeu [L]3220
1334627081126 rs1468256328 N.D. missenseCThr [T]2223
contig referenceGSer [S]2223
1334627101128 rs868227598 N.D.byCluster missenseGAla [A]1224
missenseTSer [S]1224
contig referenceCPro [P]1224
1334627121130 rs777434048 0.000byFreq synonymousGPro [P]3224
contig referenceAPro [P]3224
1334627151133 rs746266041 0.000byFreq synonymousTGly [G]3225
contig referenceGGly [G]3225
1334627201138 rs138215807 0.000byCluster missenseTPhe [F]2227
contig referenceCSer [S]2227
1334627221140 rs775920571 0.000 missenseCPro [P]1228
contig referenceAThr [T]1228
1334627231141 rs747533734 0.000byFreq missenseTIle [I]2228
contig referenceCThr [T]2228
1334627261144 rs769220102 0.000byClusterbyFreq missenseTLeu [L]2229
contig referenceCPro [P]2229
1334627381156 rs776882909 0.000 missenseGArg [R]2233
contig referenceAGln [Q]2233
1334627401158 rs369970013 0.000byCluster missenseGAla [A]1234
contig referenceAThr [T]1234
1334627431161 rs867113071 N.D. missenseTSer [S]1235
contig referenceCPro [P]1235
1334627441162 rs765608642 0.000byFreq missenseTLeu [L]2235
contig referenceCPro [P]2235
1334627541172 rs1264401894 N.D. nonsenseA3238
contig referenceCTyr [Y]3238
1334627601178 rs773456171 0.000 missenseAIle [I]3240
contig referenceGMet [M]3240
1334627621180 rs969199817 N.D. missenseTLeu [L]2241
contig referenceCPro [P]2241
1334627631181 rs556550485 N.D.byCluster synonymousGPro [P]3241
contig referenceAPro [P]3241
1334627641182 rs762726614 0.000 missenseASer [S]1242
contig referenceGGly [G]1242
1334647871191 rs1183224999 N.D. missenseGVal [V]1245
contig referenceTPhe [F]1245
1334647941198 rs767398384 0.000 missenseGArg [R]2247
missenseTLeu [L]2247
contig referenceCPro [P]2247
1334647951199 rs752226573 0.000 synonymousGPro [P]3247
contig referenceAPro [P]3247
1334647991203 rs755597536 0.000 missenseAThr [T]1249
missenseCPro [P]1249
contig referenceTSer [S]1249
1334648001204 rs777329932 0.000 missenseTPhe [F]2249
contig referenceCSer [S]2249
1334648031207 rs143757415 0.000byClusterbyFreqWith1000GenomeData0.0010 missenseAAsn [N]2250
missenseGSer [S]2250
contig referenceCThr [T]2250
1334648111215 rs1363627075 N.D. missenseAThr [T]1253
contig referenceGAla [A]1253
1334648181222 rs1001114966 N.D. missenseGSer [S]2255
contig referenceAAsn [N]2255
1334648211225 rs867293138 N.D. missenseTLeu [L]2256
contig referenceCSer [S]2256
1334648221226 rs147135637 0.000byClusterbyFreq synonymousCSer [S]3256
synonymousGSer [S]3256
contig referenceASer [S]3256
1334648261230 rs1450223457 N.D. missenseCPro [P]1258
contig referenceTSer [S]1258
1334648351239 rs747337768 0.000 missenseGAla [A]1261
contig referenceAThr [T]1261
1334648361240 rs959547878 N.D. missenseTMet [M]2261
contig referenceCThr [T]2261
1334648371241 rs17854076 0.003byClusterbyFreqWith1000GenomeData0.0010 synonymousAThr [T]3261
contig referenceGThr [T]3261
1334648441248 rs1392356186 N.D. missenseGGly [G]1264
contig referenceASer [S]1264
1334648451249 rs1024992665 N.D. missenseTIle [I]2264
contig referenceGSer [S]2264
1334648461250 rs1311886567 N.D. synonymousCSer [S]3264
contig referenceTSer [S]3264
1334648471251 rs753638348 N.D. missenseASer [S]1265
contig referenceGGly [G]1265
1334648541258 rs200440640 0.000byClusterWith1000GenomeData0.0002 missenseGArg [R]2267
contig referenceAGln [Q]2267
1334648551259 rs1240054671 N.D. synonymousGGln [Q]3267
contig referenceAGln [Q]3267
1334685701267 rs1048564742 N.D. missenseGCys [C]2270
contig referenceATyr [Y]2270
1334685721269 rs752023028 0.000 missenseAThr [T]1271
missenseGAla [A]1271
contig referenceCPro [P]1271
1334685741271 rs370562413 0.000byClusterbyFreq synonymousGPro [P]3271
contig referenceAPro [P]3271
1334685751272 rs1429400124 N.D. missenseCPro [P]1272
contig referenceTSer [S]1272
1334685791276 rs1173112352 N.D. missenseCSer [S]2273
missenseGCys [C]2273
contig referenceATyr [Y]2273
1334685841281 rs555728674 0.000With1000GenomeData0.0002 missenseAThr [T]1275
contig referenceGAla [A]1275
1334685851282 rs748654006 0.000byFreq missenseAAsp [D]2275
missenseGGly [G]2275
missenseTVal [V]2275
contig referenceCAla [A]2275
1334685861283 rs1326943870 N.D. synonymousTAla [A]3275
contig referenceCAla [A]3275
1334685901287 rs9493627 0.450byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.4095 missenseASer [S]1277
contig referenceGGly [G]1277
1334685911288 rs1354173304 N.D. missenseAAsp [D]2277
contig referenceGGly [G]2277
1334685921289 rs1434906167 N.D. synonymousTGly [G]3277
contig referenceCGly [G]3277
1334685981295 rs749283137 0.000byFreq missenseGLys [K]3279
contig referenceCAsn [N]3279
1334685991296 rs202030718 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseALys [K]1280
contig referenceCGln [Q]1280
1334686031300 rs558399007 0.000With1000GenomeData0.0002 missenseCSer [S]2281
contig referenceATyr [Y]2281
1334686091306 rs376151731 0.000byCluster missenseGArg [R]2283
contig referenceAGln [Q]2283
1334686101307 rs759365993 0.000byFreq synonymousAGln [Q]3283
contig referenceGGln [Q]3283
1334686151312 rs1217834875 N.D. missenseTPhe [F]2285
contig referenceATyr [Y]2285
1334686211318 rs374522988 0.000byClusterbyFreq missenseTVal [V]2287
contig referenceCAla [A]2287
1334686221319 rs775461679 0.000 synonymousGAla [A]3287
contig referenceAAla [A]3287
1334686271324 rs41286200 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseTMet [M]2289
contig referenceCThr [T]2289
1334686281325 rs763899252 0.000byFreq synonymousAThr [T]3289
synonymousTThr [T]3289
contig referenceGThr [T]3289
1334686321329 rs1035314735 N.D. missenseAArg [R]1291
contig referenceGGly [G]1291
1334686341331 rs761206775 0.000byFreq synonymousTGly [G]3291
contig referenceAGly [G]3291
1334686351332 rs1195889018 N.D. missenseAThr [T]1292
contig referenceGAla [A]1292
1334686361333 rs764985361 0.000 missenseTVal [V]2292
contig referenceCAla [A]2292
1334686371334 rs750099139 0.000byFreq synonymousAAla [A]3292
contig referenceGAla [A]3292
1334686391336 rs1166157048 N.D. missenseGCys [C]2293
contig referenceATyr [Y]2293
1334686481345 rs755455584 0.000byFreq missenseTLeu [L]2296
contig referenceCSer [S]2296
1334686491346 rs768010410 0.000byFreq synonymousASer [S]3296
contig referenceGSer [S]3296
1334686521349 rs756672587 0.000byFreq missenseALys [K]3297
contig referenceTAsn [N]3297
1334686541351 rs778089186 0.000byFreq missenseCThr [T]2298
contig referenceAAsn [N]2298
1334686561353 rs200092484 0.031byClusterbyFreq missenseCPro [P]1299
contig referenceAThr [T]1299
1334686581355 rs1400102256 N.D. synonymousCThr [T]3299
contig referenceAThr [T]3299
1334686601357 rs757252384 0.000byClusterbyFreq missenseAAsp [D]2300
contig referenceCAla [A]2300
1334686611358 rs1053782342 N.D. synonymousTAla [A]3300
contig referenceCAla [A]3300
1334686621359 rs779172192 0.000 missenseAAsn [N]1301
contig referenceGAsp [D]1301
1334686631360 rs1339205471 N.D. missenseTVal [V]2301
contig referenceAAsp [D]2301
1334686661363 rs75133151 0.005byClusterbyFreqWith1000GenomeData0.0096 missenseAAsp [D]2302
contig referenceGGly [G]2302
1334686711368 rs772217549 0.000 missenseGAla [A]1304
contig referenceCPro [P]1304
1334686771374 rs775296019 0.000 missenseCPro [P]1306
contig referenceTSer [S]1306
1334686801377 rs1289099998 N.D. missenseGAla [A]1307
contig referenceAThr [T]1307
1334686841381 rs368625402 0.000byCluster missenseGCys [C]2308
missenseTPhe [F]2308
contig referenceCSer [S]2308
1334686861383 rs556335059 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseGAla [A]1309
contig referenceAThr [T]1309
1334686911388 rs1236027275 N.D. synonymousCTyr [Y]3310
contig referenceTTyr [Y]3310
1334686971394 rs201540810 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTPhe [F]3312
contig referenceGLeu [L]3312
1334687011398 rs1475178668 N.D. missenseALys [K]1314
contig referenceGGlu [E]1314
1334687051402 rs761457292 0.000 missenseTPhe [F]2315
contig referenceCSer [S]2315
1334687071404 rs1188519938 N.D. missenseTPhe [F]1316
contig referenceCLeu [L]1316
1334687141411 rs1472030275 N.D. missenseTVal [V]2318
contig referenceGGly [G]2318
1334687161413 rs370874438 0.000byCluster synonymousTLeu [L]1319
contig referenceCLeu [L]1319
1334687221419 rs202049252 0.000byCluster missenseGAsp [D]1321
contig referenceAAsn [N]1321
1334687231420 rs1166230521 N.D. missenseGSer [S]2321
contig referenceAAsn [N]2321
1334687271424 rs762696698 0.000byFreq synonymousGGln [Q]3322
contig referenceAGln [Q]3322
1334687281425 rs766085875 0.000 missenseGAla [A]1323
contig referenceCPro [P]1323
1334687301427 rs1191157047 N.D. synonymousTPro [P]3323
contig referenceAPro [P]3323
1334687311428 rs1418006104 N.D. missenseAArg [R]1324
contig referenceGGly [G]1324
1334814631429 rs1331510993 N.D. missenseAGlu [E]2324
contig referenceGGly [G]2324
1334814641430 rs1200076248 N.D. synonymousGGly [G]3324
contig referenceAGly [G]3324
1334814651431 rs1003638503 N.D. missenseALys [K]1325
contig referenceGGlu [E]1325
1334814691435 rs112119576 0.500 missenseCSer [S]2326
contig referenceTPhe [F]2326
1334814701436 rs773095472 0.000byClusterbyFreq missenseGLeu [L]3326
synonymousTPhe [F]3326
contig referenceCPhe [F]3326
1334814711437 rs144415484 0.001byClusterbyFreq missenseAAsn [N]1327
contig referenceGAsp [D]1327
1334814751441 rs897811426 N.D. missenseTIle [I]2328
contig referenceCThr [T]2328
1334814761442 rs1005575118 N.D. synonymousAThr [T]3328
contig referenceCThr [T]3328
1334814791445 rs146144708 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseTIle [I]3329
contig referenceGMet [M]3329
1334814841450 rs867013740 N.D. missenseAAsn [N]2331
contig referenceGSer [S]2331
1334814871453 rs780325557 0.000 missenseTLeu [L]2332
contig referenceCPro [P]2332
1334814891455 rs1434239883 N.D. missenseCPro [P]1333
contig referenceTSer [S]1333
1334814911457 rs894683876 N.D. synonymousASer [S]3333
synonymousGSer [S]3333
contig referenceCSer [S]3333
1334814931459 rs1378859918 N.D. missenseTIle [I]2334
contig referenceCThr [T]2334
1334814951461 rs1476872136 N.D. missenseAThr [T]1335
missenseTSer [S]1335
contig referenceCPro [P]1335
1334814981464 rs751722318 0.000 missenseGVal [V]1336
contig referenceAIle [I]1336
1334814991465 rs1400519802 N.D. missenseCThr [T]2336
contig referenceTIle [I]2336
1334815021468 rs755172395 0.000byFreq missenseCThr [T]2337
missenseGArg [R]2337
contig referenceALys [K]2337
1334815061472 rs1475942473 N.D. missenseGGlu [E]3338
contig referenceTAsp [D]3338
1334815071473 rs747932742 0.000 missenseGVal [V]1339
contig referenceCLeu [L]1339
1334815121478 rs769871791 0.000 missenseAGlu [E]3340
contig referenceTAsp [D]3340
1334815211487 rs777827307 0.000 synonymousTThr [T]3343
contig referenceCThr [T]3343
1334815221488 rs746881392 N.D. missenseCArg [R]1344
contig referenceTCys [C]1344
1334815251491 rs763441522 0.000byCluster -1345
1334815271493 rs140170914 0.001byClusterbyFreq missenseCSer [S]3345
contig referenceGArg [R]3345
1334815291495 rs770559595 0.000 missenseAAsn [N]2346
contig referenceGSer [S]2346
1334815321498 rs774111274 0.000 missenseATyr [Y]2347
contig referenceCSer [S]2347
1334815331499 rs922443619 N.D. synonymousGSer [S]3347
contig referenceTSer [S]3347
1334815341500 rs1279116848 N.D. missenseCArg [R]1348
contig referenceGGly [G]1348
1334815371503 rs759121860 0.000 missenseAThr [T]1349
missenseCPro [P]1349
contig referenceTSer [S]1349
1334815391505 rs1024571049 N.D. AAGLys [K]3350
1334815391505 rs1217238739 N.D. synonymousGSer [S]3349
contig referenceASer [S]3349
1334815461512 rs1257794630 N.D. missenseGGly [G]1352
contig referenceAArg [R]1352
1334815561522 rs1212142790 N.D. missenseTVal [V]2355
contig referenceGGly [G]2355
1334815581524 rs776882781 0.000byFreq missenseTTrp [W]1356
synonymousAArg [R]1356
contig referenceCArg [R]1356
1334815591525 rs762144530 0.000byFreq missenseAGln [Q]2356
contig referenceGArg [R]2356
1334815601526 rs1462199205 N.D. synonymousAArg [R]3356
contig referenceGArg [R]3356
1334815641530 rs1271111659 N.D. missenseTTyr [Y]1358
contig referenceAAsn [N]1358
1334815651531 rs1198001216 N.D. missenseGSer [S]2358
contig referenceAAsn [N]2358
1334815701536 rs765773822 0.000byFreq missenseAThr [T]1360
contig referenceCPro [P]1360
1334815731539 rs569333400 0.000With1000GenomeData0.0002 missenseCPro [P]1361
contig referenceTSer [S]1361
1334815741540 rs750925470 0.000 missenseTPhe [F]2361
contig referenceCSer [S]2361
1334815771543 rs1168354526 N.D. missenseTLeu [L]2362
contig referenceCPro [P]2362
1334815781544 rs763081961 0.000 synonymousAPro [P]3362
synonymousCPro [P]3362
contig referenceGPro [P]3362
1334815791545 rs766386665 0.000 missenseAThr [T]1363
contig referenceCPro [P]1363
1334815811547 rs1295222806 N.D. synonymousGPro [P]3363
contig referenceTPro [P]3363
1334815821548 rs1331156267 N.D. missenseTSer [S]1364
contig referenceCPro [P]1364
1334815871553 rs779806687 0.000byClusterbyFreq synonymousCAsp [D]3365
contig referenceTAsp [D]3365
1334815911557 rs866788038 N.D.byCluster missenseAAsn [N]1367
contig referenceGAsp [D]1367
1334830321566 rs576607924 0.000With1000GenomeData0.0002 missenseTCys [C]1370
contig referenceCArg [R]1370
1334830331567 rs143936434 0.000byClusterbyFreq YesmissenseAHis [H]2370
contig referenceGArg [R]2370
1334830481582 rs766872116 0.000 missenseTVal [V]2375
contig referenceAAsp [D]2375
1334830521586 rs1259808484 N.D. synonymousALeu [L]3376
contig referenceGLeu [L]3376
1334830611595 rs151245774 0.000byClusterbyFreq YessynonymousTThr [T]3379
contig referenceCThr [T]3379
1334830621596 rs1183423294 N.D. missenseGVal [V]1380
contig referenceAIle [I]1380
1334830641598 rs956032543 N.D. synonymousTIle [I]3380
contig referenceCIle [I]3380
1334830651599 rs759636690 0.000 missenseGVal [V]1381
contig referenceAIle [I]1381
1334830681602 rs767667928 0.000 missenseAIle [I]1382
missenseCLeu [L]1382
contig referenceGVal [V]1382
1334830731607 rs752959200 0.000byFreq synonymousCPhe [F]3383
contig referenceTPhe [F]3383
1334830741608 rs1212042572 N.D. missenseTTyr [Y]1384
contig referenceCHis [H]1384
1334830771611 rs112719833 0.500 YesmissenseCPro [P]1385
contig referenceTSer [S]1385
1334830851619 rs140472262 0.000byClusterbyFreq YessynonymousTLeu [L]3387
contig referenceCLeu [L]3387
1334830861620 rs866364750 N.D. missenseTSer [S]1388
contig referenceAThr [T]1388
1334830881622 rs763994459 0.000 synonymousTThr [T]3388
contig referenceCThr [T]3388
1334830891623 rs563208631 N.D.byCluster missenseAArg [R]1389
contig referenceGGly [G]1389
1334830971631 rs149998121 0.000byCluster YesnonsenseG3391
contig referenceTTyr [Y]3391
1334831011635 rs757172581 0.000 nonsenseT1393
contig referenceCGln [Q]1393
1334831021636 rs1301515285 N.D. missenseGArg [R]2393
contig referenceAGln [Q]2393
1334831081642 rs778888895 0.000 missenseGCys [C]2395
contig referenceATyr [Y]2395
1334831091643 rs745412542 0.000 synonymousCTyr [Y]3395
contig referenceTTyr [Y]3395
1334831111645 rs757922684 0.000byFreq missenseAAsp [D]2396
contig referenceGGly [G]2396
1335061061650 rs906659742 N.D. missenseTTyr [Y]1398
contig referenceGAsp [D]1398
1335061091653 rs749651950 0.000 missenseTSer [S]1399
contig referenceCPro [P]1399
1335061111655 rs373910569 0.000byClusterbyFreq YessynonymousAPro [P]3399
synonymousTPro [P]3399
contig referenceCPro [P]3399
1335061121656 rs1421920414 N.D. missenseAThr [T]1400
contig referenceCPro [P]1400
1335061131657 rs1289287096 N.D. missenseTLeu [L]2400
contig referenceCPro [P]2400
1335061161660 rs746399669 0.000byFreq missenseCThr [T]2401
contig referenceTMet [M]2401
1335061251669 rs1230427006 N.D. missenseAAsn [N]2404
contig referenceCThr [T]2404
1335061261670 rs796327130 N.D. synonymousAThr [T]3404
contig referenceCThr [T]3404
1335061351679 rs772393197 0.000byFreq synonymousTLeu [L]3407
contig referenceCLeu [L]3407
1335061361680 rs775741050 0.000byClusterbyFreq missenseTCys [C]1408
contig referenceCArg [R]1408
1335061371681 rs760787542 0.000byFreq missenseAHis [H]2408
contig referenceGArg [R]2408
1335061391683 rs769040418 0.000 missenseGVal [V]1409
contig referenceAMet [M]1409
1335061451689 rs776989348 0.000 missenseCGln [Q]1411
contig referenceGGlu [E]1411
1335061491693 rs1400210195 N.D. missenseCThr [T]2412
contig referenceTMet [M]2412
1335061501694 rs368111979 0.000byCluster YesmissenseCIle [I]3412
contig referenceGMet [M]3412
1335061581702 rs765095681 0.000 missenseCThr [T]2415
missenseGSer [S]2415
contig referenceAAsn [N]2415
1335061631707 rs1376995776 N.D. missenseAThr [T]1417
contig referenceGAla [A]1417
1335061641708 rs1451580118 N.D. missenseAAsp [D]2417
contig referenceCAla [A]2417
1335061671711 rs1363400539 N.D. missenseGGly [G]2418
contig referenceAAsp [D]2418
1335061741718 rs750122346 0.000 synonymousCHis [H]3420
contig referenceTHis [H]3420
1335061771721 rs762982137 0.000 missenseTPhe [F]3421
contig referenceGLeu [L]3421
1335061781722 rs766259417 0.000 missenseCLeu [L]1422
contig referenceTPhe [F]1422
1335061891733 rs977650278 N.D. missenseGGlu [E]3425
contig referenceTAsp [D]3425
1335127231742 rs773085937 0.000 missenseTAsp [D]3428
contig referenceGGlu [E]3428
1335127251744 rs1446619876 N.D. missenseCSer [S]2429
contig referenceGCys [C]2429
1335127331752 rs145253833 0.000byClusterbyFreq YesmissenseCLeu [L]1432
contig referenceGVal [V]1432
1335127401759 rs766340934 0.000 missenseCThr [T]2434
contig referenceTIle [I]2434
1335127421761 rs1409560811 N.D. -1436
1335127431762 rs977093056 N.D. missenseGGly [G]2435
contig referenceAAsp [D]2435
1335127471766 rs1029890565 N.D. synonymousCAsp [D]3436
contig referenceTAsp [D]3436
1335127481767 rs751490042 0.000byFreq missenseAIle [I]1437
missenseTPhe [F]1437
contig referenceGVal [V]1437
1335127491768 rs767024516 0.000 missenseCAla [A]2437
contig referenceTVal [V]2437
1335127521771 rs752080613 0.000 missenseGCys [C]2438
contig referenceCSer [S]2438
1335127541773 rs755820624 0.000 missenseCPro [P]1439
contig referenceTSer [S]1439
1335127551774 rs1382375530 N.D. TGAAsp [D]2441
1335127571776 rs777242256 0.000 missenseCHis [H]1440
contig referenceGAsp [D]1440
1335127631782 rs1198184114 N.D. missenseGAsp [D]1442
contig referenceAAsn [N]1442
1335127641783 rs750848162 0.000 missenseGSer [S]2442
contig referenceAAsn [N]2442
1335127651784 rs755879809 N.D. synonymousCAsn [N]3442
contig referenceTAsn [N]3442
1335127681787 rs141300030 0.000byClusterbyFreq YessynonymousAGly [G]3443
contig referenceGGly [G]3443
1335127711790 rs1360697925 N.D. missenseTHis [H]3444
contig referenceGGln [Q]3444
1335127721791 rs977646583 N.D. missenseAAsn [N]1445
contig referenceGAsp [D]1445
1335127771796 rs200309400 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGLeu [L]3446
contig referenceALeu [L]3446
1335128951816 rs1321644184 N.D. missenseAAsn [N]2453
contig referenceCThr [T]2453
1335129081829 rs753421271 0.000 missenseGGln [Q]3457
contig referenceTHis [H]3457
1335129101831 rs756914561 0.000 missenseAGlu [E]2458
contig referenceCAla [A]2458
1335129161837 rs766857002 0.000byFreq missenseAGlu [E]2460
contig referenceCAla [A]2460
1335129251846 rs751935221 0.000 missenseGGly [G]2463
contig referenceCAla [A]2463
1335129411862 rs1458242393 N.D. synonymousGPro [P]3468
contig referenceAPro [P]3468
1335129421863 rs755567144 0.000 missenseGAla [A]1469
contig referenceAThr [T]1469
1335129481869 rs374448950 0.000byCluster YesmissenseAIle [I]1471
contig referenceGVal [V]1471
1335129551876 rs146977269 0.000byClusterbyFreq YesmissenseTVal [V]2473
contig referenceGGly [G]2473
1335129591880 rs138141986 0.000byClusterbyFreq YessynonymousAGly [G]3474
contig referenceGGly [G]3474
1335129601881 rs756139259 0.000byFreq missenseTPhe [F]1475
contig referenceGVal [V]1475
1335129611882 rs778110178 0.000 missenseCAla [A]2475
contig referenceTVal [V]2475
1335129651886 rs777602868 N.D. synonymousTAsp [D]3476
contig referenceCAsp [D]3476
1335129681889 rs866613309 N.D. nonsenseA3477
contig referenceGTrp [W]3477
1335129711892 rs1187396214 N.D. missenseTIle [I]3478
contig referenceGMet [M]3478
1335129731894 rs1463223995 N.D. missenseALys [K]2479
contig referenceGArg [R]2479
1335129741895 rs142263016 0.000byClusterbyFreq YessynonymousAArg [R]3479
contig referenceGArg [R]3479
1335129771898 rs945744191 N.D. synonymousALys [K]3480
contig referenceGLys [K]3480
1335129781899 rs12663265 N.D.withHapMapFreq YesmissenseAMet [M]1481
contig referenceTLeu [L]1481
1335129801901 rs970046822 N.D. missenseTPhe [F]3481
contig referenceGLeu [L]3481
1335129821903 rs1042738234 N.D. missenseTVal [V]2482
contig referenceCAla [A]2482
1335129861907 rs1463268151 N.D. missenseGLeu [L]3483
contig referenceTPhe [F]3483
1335129871908 rs868828420 N.D.byCluster missenseGGly [G]1484
missenseTCys [C]1484
contig referenceCArg [R]1484
1335129881909 rs78414369 N.D.byCluster YesmissenseTLeu [L]2484
contig referenceGArg [R]2484
1335129931914 rs1166116766 N.D. missenseGGly [G]1486
contig referenceAArg [R]1486
1335129981919 rs1395623929 N.D. synonymousGArg [R]3487
contig referenceAArg [R]3487
1335130001921 rs771071030 0.000 missenseCAla [A]2488
contig referenceTVal [V]2488
1335130031924 rs1357540973 N.D. missenseGArg [R]2489
contig referenceALys [K]2489
1335130051926 rs1305000119 N.D. missenseALys [K]1490
contig referenceGGlu [E]1490
1335130191940 rs774161410 0.000byFreq synonymousTThr [T]3494
contig referenceCThr [T]3494
1335130221943 rs745611778 0.000byFreq synonymousTTyr [Y]3495
contig referenceCTyr [Y]3495
1335130281949 rs1279010897 N.D. missenseALys [K]3497
contig referenceCAsn [N]3497
1335130311952 rs748934740 N.D. synonymousTAsn [N]3498
contig referenceCAsn [N]3498
1335130321953 rs142122118 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAIle [I]1499
missenseCLeu [L]1499
contig referenceGVal [V]1499
1335130351956 rs376336693 0.000byCluster YesmissenseAArg [R]1500
contig referenceGGly [G]1500
1335153211960 rs767782223 0.000 missenseCAla [A]2501
contig referenceGGly [G]2501
1335153251964 rs753035830 0.000 synonymousTLeu [L]3502
contig referenceCLeu [L]3502
1335153301969 rs1383249144 N.D. missenseCAla [A]2504
contig referenceGGly [G]2504
1335153311970 rs1479576664 N.D. synonymousTGly [G]3504
contig referenceCGly [G]3504
1335153331972 rs1009230800 N.D. missenseTLeu [L]2505
contig referenceCPro [P]2505
1335153341973 rs1226393292 N.D. synonymousCPro [P]3505
contig referenceTPro [P]3505
1335153351974 rs966539346 N.D. missenseAThr [T]1506
contig referenceGAla [A]1506
1335153371976 rs374505919 0.000byCluster YessynonymousGAla [A]3506
contig referenceCAla [A]3506
1335153391978 rs1052325082 N.D. missenseTMet [M]2507
contig referenceALys [K]2507
1335153421981 rs543789215 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]2508
missenseCThr [T]2508
contig referenceGArg [R]2508
1335153431982 rs1347223277 N.D. synonymousAArg [R]3508
contig referenceGArg [R]3508
1335153531992 rs1451874529 N.D. synonymousTLeu [L]1512
contig referenceCLeu [L]1512
1335153571996 rs757295832 0.000byFreq missenseGArg [R]2513
contig referenceAGln [Q]2513
1335153581997 rs925149184 N.D. synonymousAGln [Q]3513
contig referenceGGln [Q]3513
1335153591998 rs779172500 0.000byFreq synonymousCLeu [L]1514
contig referenceTLeu [L]1514
1335153652004 rs750657561 0.000 missenseAThr [T]1516
contig referenceGAla [A]1516
1335153722011 rs758580174 0.000byFreq missenseCThr [T]2518
contig referenceTIle [I]2518
1335153742013 rs1244671664 N.D. nonsenseT1519
contig referenceGGlu [E]1519
1335153892028 rs1396739709 N.D. missenseGAla [A]1524
contig referenceTSer [S]1524
1335153972036 rs779746246 0.000byFreq synonymousTLeu [L]3526
contig referenceALeu [L]3526
1335154112050 rs892324840 N.D. missenseCThr [T]2531
contig referenceALys [K]2531
1335154122051 rs1461791517 N.D. synonymousALys [K]3531
contig referenceGLys [K]3531
1335154222061 rs200300314 0.000byClusterbyFreq YesmissenseGVal [V]1535
contig referenceAIle [I]1535
1335154252064 rs768526840 0.000 missenseTPhe [F]1536
contig referenceAIle [I]1536
1335154302069 rs757995893 0.000byFreq synonymousTSer [S]3537
contig referenceCSer [S]3537
1335230582077 rs748781018 0.000 missenseCThr [T]2540
contig referenceGSer [S]2540
1335230592078 rs200224388 0.002 YessynonymousCSer [S]3540
contig referenceTSer [S]3540
1335230632082 rs1429034123 N.D. missenseGGly [G]1542
contig referenceTCys [C]1542
1335230642083 rs1463575941 N.D. missenseATyr [Y]2542
contig referenceGCys [C]2542
1335230682087 rs1375926192 N.D. missenseGMet [M]3543
contig referenceAIle [I]3543
1335230742093 rs770537738 0.000 synonymousTVal [V]3545
contig referenceCVal [V]3545
1335230762095 rs1476735900 N.D. missenseCSer [S]2546
contig referenceTLeu [L]2546
1335230782097 rs1270716473 N.D. missenseAIle [I]1547
contig referenceGVal [V]1547
1335230822101 rs1173190962 N.D. missenseTMet [M]2548
contig referenceCThr [T]2548
1335230832102 rs371913096 0.000byClusterWith1000GenomeData0.0002 YessynonymousAThr [T]3548
contig referenceGThr [T]3548
1335230862105 rs975209887 N.D. synonymousTThr [T]3549
contig referenceAThr [T]3549
1335230922111 rs747398475 0.000byFreq synonymousGGln [Q]3551
contig referenceAGln [Q]3551
1335230952114 rs1297082143 N.D. synonymousALeu [L]3552
contig referenceGLeu [L]3552
1335230982117 rs1345813435 N.D. missenseGMet [M]3553
contig referenceCIle [I]3553
1335231012120 rs36021241 0.278byFreq YessynonymousGPro [P]3554
contig referenceAPro [P]3554
1335231092128 rs933456827 N.D. missenseTVal [V]2557
contig referenceCAla [A]2557
1335231102129 rs768995654 0.000byFreq synonymousAAla [A]3557
contig referenceGAla [A]3557
1335231172136 rs1344647413 N.D. synonymousTLeu [L]1560
contig referenceCLeu [L]1560
1335231182137 rs1052000923 N.D. missenseCPro [P]2560
contig referenceTLeu [L]2560
1335231192138 rs535466937 0.000byFreqWith1000GenomeData0.0002 synonymousCLeu [L]3560
synonymousGLeu [L]3560
synonymousTLeu [L]3560
contig referenceALeu [L]3560
1335231202139 rs1275083776 N.D. frame shift(11bp)Gln [Q]1561
contig reference-Leu [L]1561
1335231242143 rs199621266 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGCys [C]2562
contig referenceATyr [Y]2562
1335231272146 rs1203988691 N.D. missenseCThr [T]2563
contig referenceGSer [S]2563
1335231322151 rs1285509646 N.D. missenseAArg [R]1565
contig referenceGGly [G]1565
1335231352154 rs908132048 N.D. missenseASer [S]1566
contig referenceGGly [G]1566
1335231362155 rs773216143 0.000byFreq missenseAAsp [D]2566
contig referenceGGly [G]2566
1335231452164 rs763059953 0.000 missenseGArg [R]2569
contig referenceCPro [P]2569
1335231462165 rs1197553602 N.D. synonymousAPro [P]3569
synonymousTPro [P]3569
contig referenceCPro [P]3569
1335231512170 rs1393253733 N.D. missenseGGly [G]2571
contig referenceAGlu [E]2571
1335231572176 rs1455820907 N.D. missenseGSer [S]2573
contig referenceTIle [I]2573
1335231742193 rs766579366 0.000byFreq missenseGVal [V]1579
contig referenceAIle [I]1579
1335231752194 rs751797323 0.000 missenseCThr [T]2579
missenseGArg [R]2579
contig referenceTIle [I]2579
1335231762195 rs1305421182 N.D. synonymousTIle [I]3579
contig referenceAIle [I]3579
1335251542197 rs866696222 N.D. missenseAGlu [E]2580
contig referenceGGly [G]2580
1335251632206 rs749562148 0.000 missenseTIle [I]2583
contig referenceGSer [S]2583
1335251652208 rs1171944081 N.D. missenseGGly [G]1584
contig referenceTCys [C]1584
1335251672210 rs771515273 0.000 synonymousTCys [C]3584
contig referenceCCys [C]3584
1335251732216 rs779528127 0.000byFreq synonymousGGlu [E]3586
contig referenceAGlu [E]3586
1335251752218 rs746014018 0.000 missenseAGln [Q]2587
contig referenceGArg [R]2587
1335251812224 rs1312770858 N.D. missenseCThr [T]2589
contig referenceTMet [M]2589
1335251842227 rs1335470664 N.D. missenseTLeu [L]2590
contig referenceAGln [Q]2590
1335251882231 rs772266373 0.000byFreq missenseCSer [S]3591
synonymousAArg [R]3591
contig referenceGArg [R]3591
1335251942237 rs775654933 0.000byFreq synonymousGGly [G]3593
contig referenceCGly [G]3593
1335251972240 rs1309570149 N.D. synonymousGArg [R]3594
contig referenceAArg [R]3594
1335251982241 rs1344051266 N.D. missenseCGln [Q]1595
contig referenceALys [K]1595
1335252002243 rs1028820098 N.D. synonymousGLys [K]3595
contig referenceALys [K]3595
1335252002243 rs1223239289 N.D. -3597
1335252012244 rs890246005 N.D. missenseAIle [I]1596
contig referenceGVal [V]1596
1335252052248 rs1342058204 N.D. missenseCAla [A]2597
contig referenceTVal [V]2597
1335252062249 rs1445493672 N.D. (12bp) [YVVI]3601
1335252092252 rs1370711989 N.D. synonymousCTyr [Y]3598
contig referenceTTyr [Y]3598
1335252102253 rs1197096901 N.D. missenseAIle [I]1599
contig referenceGVal [V]1599
1335252132256 rs1270264437 N.D. missenseAIle [I]1600
contig referenceGVal [V]1600
1335252202263 rs1482403675 N.D. missenseAGlu [E]2602
contig referenceGGly [G]2602
1335252232266 rs1199711159 N.D. missenseGGly [G]2603
contig referenceAAsp [D]2603
1335252252268 rs1270529417 N.D. missenseTCys [C]1604
contig referenceGGly [G]1604
1335252292272 rs1212098692 N.D. missenseAGlu [E]2605
contig referenceTVal [V]2605
1335252302273 rs763110500 0.000byFreq -3608
1335252352278 rs1197860112 N.D. missenseTVal [V]2607
contig referenceAGlu [E]2607
1335252372280 rs1173508611 N.D. missenseCGln [Q]1608
contig referenceGGlu [E]1608
1335252392282 rs1240468803 N.D. synonymousGGlu [E]3608
contig referenceAGlu [E]3608
1335252402283 rs1475111574 N.D. missenseALys [K]1609
contig referenceCGln [Q]1609
1335252422285 rs1187383020 N.D. synonymousAGln [Q]3609
contig referenceGGln [Q]3609
1335252432286 rs760982409 0.000 missenseAThr [T]1610
contig referenceGAla [A]1610
1335252442287 rs1452742979 N.D. missenseAGlu [E]2610
contig referenceCAla [A]2610
1335252452288 rs1179513410 N.D. synonymousGAla [A]3610
contig referenceAAla [A]3610
1335252462289 rs1173425307 N.D. missenseAThr [T]1611
contig referenceGAla [A]1611
1335252472290 rs1476351786 N.D. missenseAGlu [E]2611
contig referenceCAla [A]2611
1335252502293 rs762369993 N.D.byCluster frame shift-Thr [T]2612
contig referenceAAAAGLys [K]2612
1335287272300 rs768961648 0.000 synonymousTHis [H]3614
contig referenceCHis [H]3614
1335287322305 rs748031092 0.000 missenseALys [K]2616
contig referenceTMet [M]2616
1335287342307 rs1384140550 N.D. missenseAThr [T]1617
contig referenceCPro [P]1617
1335287392312 rs1246134166 N.D. synonymousTPhe [F]3618
contig referenceCPhe [F]3618
1335287692342 rs769587552 0.000 synonymousALeu [L]3628
contig referenceGLeu [L]3628
1335287722345 rs763428939 N.D. synonymousCAla [A]3629
contig referenceTAla [A]3629
1335287752348 rs1173562647 N.D. synonymousTLeu [L]3630
contig referenceCLeu [L]3630
1335287782351 rs769828566 N.D.byCluster missenseGGln [Q]3631
contig referenceCHis [H]3631
1335287812354 rs1243633795 N.D. synonymousGGln [Q]3632
contig referenceAGln [Q]3632
1335287882361 rs1260901423 N.D. missenseCGln [Q]1635
contig referenceGGlu [E]1635
1335288022375 rs997894871 N.D. synonymousALeu [L]3639
contig referenceGLeu [L]3639