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SNP linked to Gene (geneID:284086) Via Contig Annotation

rs# on all gene models to Batch Query
all rs# to file.

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 6
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017024501.1plus strandXP_016879990.1forwardNT_010783.16GRCh38.p7View snp on GeneModel
XM_017024500.1plus strandXP_016879989.1forwardNT_010783.16GRCh38.p7View snp on GeneModel
XM_017024499.1plus strandXP_016879988.1forwardNT_010783.16GRCh38.p7View snp on GeneModel
XM_011524640.2plus strandXP_011522942.1forwardNT_010783.16GRCh38.p7View snp on GeneModel
XM_011524638.2plus strandXP_011522940.1forwardNT_010783.16GRCh38.p7View snp on GeneModel
NM_178170.2plus strandNP_835464.1forwardNT_010783.16GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_001752497.1675, 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
287288163 rs1341303011 N.D. -32
287288229 rs759474870 0.000 synonymousALys [K]33
contig referenceGLys [K]33
2872882310 rs1291473225 N.D. missenseCHis [H]14
contig referenceTTyr [Y]14
2872882512 rs753072254 N.D. synonymousTTyr [Y]34
contig referenceCTyr [Y]34
2872882815 rs1323722720 N.D. synonymousAGlu [E]35
contig referenceGGlu [E]35
2872882916 rs1246138320 N.D. missenseTTrp [W]16
contig referenceCArg [R]16
2872883522 rs199621354 0.000byClusterWith1000GenomeData0.0002 YesmissenseGGly [G]18
contig referenceCArg [R]18
2872883623 rs769061874 0.000byFreq missenseAGln [Q]28
missenseCPro [P]28
contig referenceGArg [R]28
2872884330 rs1216270944 N.D. synonymousAVal [V]310
contig referenceGVal [V]310
2872884431 rs760317201 0.000 missenseAArg [R]111
contig referenceGGly [G]111
2872884835 rs1489042744 N.D. missenseTIle [I]212
contig referenceGArg [R]212
2872885138 rs1242889930 N.D. missenseAAsp [D]213
contig referenceGGly [G]213
2872885441 rs766050312 0.000 missenseTVal [V]214
contig referenceCAla [A]214
2872885845 rs960685097 N.D. synonymousTPhe [F]315
contig referenceCPhe [F]315
2872885946 rs901876203 N.D. missenseAArg [R]116
contig referenceGGly [G]116
2872885946 rs1378756612 N.D. frame shift-Leu [L]117
contig referenceGIle [I]117
2873398853 rs1222524120 N.D. -219
2873398853 rs1459335442 N.D. missenseGGly [G]218
contig referenceTVal [V]218
2873398954 rs1466629430 N.D. synonymousAVal [V]318
contig referenceGVal [V]318
2873399257 rs748430513 0.000byFreq synonymousTHis [H]319
contig referenceCHis [H]319
2873399964 rs1375378172 N.D. synonymousTLeu [L]122
contig referenceCLeu [L]122
2873400267 rs75328009 0.000byCluster YesnonsenseT123
contig referenceCArg [R]123
2873400368 rs776251322 0.000 missenseAGln [Q]223
contig referenceGArg [R]223
2873400772 rs1223142510 N.D. synonymousALys [K]324
contig referenceGLys [K]324
2873400873 rs1379564744 N.D. missenseAThr [T]125
contig referenceGAla [A]125
2873401075 rs1217762146 N.D. synonymousCAla [A]325
contig referenceTAla [A]325
2873401580 rs1351148612 N.D. missenseGArg [R]227
contig referenceAGln [Q]227
2873401782 rs1281004888 N.D. missenseGGlu [E]128
contig referenceALys [K]128
2873402186 rs749672981 0.000 frame shift(44bp)Leu [L]230
contig reference-Val [V]230
2873402287 rs1277488652 N.D. synonymousTLeu [L]329
contig referenceGLeu [L]329
2873402388 rs759248580 0.000byFreq missenseAMet [M]130
contig referenceGVal [V]130
2873402994 rs764658381 0.000 missenseTPhe [F]132
contig referenceAIle [I]132
2873403095 rs1249083365 N.D. missenseCThr [T]232
contig referenceTIle [I]232
2873403196 rs774871392 0.000 missenseGMet [M]332
contig referenceCIle [I]332
28734040105 rs1199180736 N.D. synonymousAIle [I]335
contig referenceTIle [I]335
28734041106 rs1239849965 N.D. missenseGAla [A]136
missenseTSer [S]136
contig referenceCPro [P]136
28734057122 rs763972758 0.000 missenseGSer [S]241
missenseTIle [I]241
contig referenceCThr [T]241
28734058123 rs1424761477 N.D. synonymousTThr [T]341
contig referenceCThr [T]341
28734060125 rs372807519 0.000byClusterbyFreq YesmissenseGArg [R]242
contig referenceALys [K]242
28734061126 rs757098308 0.000byFreq synonymousALys [K]342
contig referenceGLys [K]342
28734066131 rs202217310 0.000byCluster YesmissenseTVal [V]244
contig referenceAGlu [E]244
28734069134 rs750671320 0.000byFreq missenseAGln [Q]245
contig referenceGArg [R]245
28734073138 rs1332630763 N.D. missenseCHis [H]346
contig referenceGGln [Q]346
28734082147 rs756411828 0.000 synonymousAGln [Q]349
contig referenceGGln [Q]349
28734088153 rs768501708 N.D. missenseCAsp [D]351
contig referenceGGlu [E]351
28734091156 rs780124748 0.000 synonymousTCys [C]352
contig referenceCCys [C]352
28734112177 rs909308407 N.D. synonymousTAsn [N]359
contig referenceCAsn [N]359
28734116181 rs749351161 0.000 missenseAThr [T]161
missenseGAla [A]161
contig referenceCPro [P]161
28734118183 rs771147281 0.000byCluster frame shiftALys [K]362
contig reference-Asn [N]362
28734119184 rs1409184372 N.D. missenseGAsp [D]162
contig referenceAAsn [N]162
28734120185 rs1367917533 N.D. missenseGSer [S]262
contig referenceAAsn [N]262
28734122187 rs755125104 0.000 missenseAIle [I]163
contig referenceGVal [V]163
28734130195 rs1433967583 N.D. synonymousAGlu [E]365
contig referenceGGlu [E]365
28734133198 rs779265033 0.000byFreq synonymousTTyr [Y]366
contig referenceCTyr [Y]366
28734136201 rs371542903 0.000byClusterbyFreq YessynonymousTTyr [Y]367
contig referenceCTyr [Y]367
28734137202 rs1218642611 N.D. missenseALys [K]168
contig referenceGGlu [E]168
28734145210 rs774868062 0.000byClusterbyFreq frame shift-Trp [W]371
contig referenceCLeu [L]371
28734149214 rs772419251 0.000 missenseALys [K]172
contig referenceGGlu [E]172
28734154219 rs760073182 0.000 frame shiftASer [S]375
contig reference-Ala [A]375
28734160225 rs1199659220 N.D. synonymousTAla [A]375
contig referenceCAla [A]375
28734164229 rs942079921 N.D. missenseGVal [V]177
contig referenceAMet [M]177
28734169234 rs199984152 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTIle [I]378
contig referenceCIle [I]378
28734170235 rs776675685 N.D. missenseAThr [T]179
contig referenceGAla [A]179
28734174239 rs745461608 0.000 missenseCThr [T]280
contig referenceTMet [M]280
28734177242 rs1214988107 N.D. frame shiftCTAsp [D]281
contig reference-Glu [E]281
28734183248 rs769455568 0.000 missenseAGlu [E]283
missenseTVal [V]283
contig referenceCAla [A]283
28734188253 rs775028329 0.000byCluster missenseASer [S]185
contig referenceGGly [G]185
28734772254 rs1243900532 N.D. missenseAAsp [D]285
contig referenceGGly [G]285
28734773255 rs754997427 0.000byFreq synonymousTGly [G]385
contig referenceCGly [G]385
28734774256 rs1163187689 N.D. missenseASer [S]186
contig referenceGGly [G]186
28734783265 rs1415076749 N.D. missenseAThr [T]189
contig referenceGAla [A]189
28734786268 rs1407451287 N.D. missenseALys [K]190
contig referenceGGlu [E]190
28734787269 rs779113821 0.000byClusterbyFreq missenseGGly [G]290
contig referenceAGlu [E]290
28734789271 rs759831001 N.D. missenseAIle [I]191
contig referenceTPhe [F]191
28734792274 rs753132486 0.000 missenseTPhe [F]192
contig referenceAIle [I]192
28734794276 rs758918101 0.000 synonymousTIle [I]392
contig referenceCIle [I]392
28734798280 rs376267287 0.000byClusterbyFreq YesmissenseCGln [Q]194
contig referenceALys [K]194
28734799281 rs778058090 0.000 missenseTMet [M]294
contig referenceALys [K]294
28734802284 rs747401624 0.000byFreq missenseAHis [H]295
contig referenceGArg [R]295
28734804286 rs187208850 0.000byClusterbyFreqWith1000GenomeData0.0008 YesmissenseCArg [R]196
contig referenceTCys [C]196
28734805287 rs1381189635 N.D. missenseATyr [Y]296
contig referenceGCys [C]296
28734811293 rs1277490149 N.D. missenseATyr [Y]298
contig referenceCSer [S]298
28734812294 rs140255077 0.000byClusterbyFreq YessynonymousGSer [S]398
synonymousTSer [S]398
contig referenceCSer [S]398
28734813295 rs369729306 0.000byCluster YesmissenseGVal [V]199
contig referenceCLeu [L]199
28734814296 rs1308842289 N.D. missenseCPro [P]299
contig referenceTLeu [L]299
28734816298 rs947991483 N.D. synonymousTLeu [L]1100
contig referenceCLeu [L]1100
28734818300 rs749030398 0.000byFreq synonymousALeu [L]3100
contig referenceGLeu [L]3100
28734825307 rs1322139064 N.D. missenseALys [K]1103
contig referenceGGlu [E]1103
28734827309 rs377073596 0.000byCluster YesmissenseCAsp [D]3103
synonymousAGlu [E]3103
contig referenceGGlu [E]3103
28734830312 rs773918233 0.000 synonymousAThr [T]3104
contig referenceCThr [T]3104
28734831313 rs761787363 0.000 missenseCLeu [L]1105
missenseGVal [V]1105
contig referenceAIle [I]1105
28734834316 rs772157995 0.000byFreq synonymousTLeu [L]1106
contig referenceCLeu [L]1106
28734836318 rs773103108 0.000 synonymousTLeu [L]3106
contig referenceGLeu [L]3106
28734837319 rs1238581801 N.D. missenseTTyr [Y]1107
contig referenceCHis [H]1107
28734839321 rs772543894 0.000 -3109
28734839321 rs1177212239 N.D. synonymousTHis [H]3107
contig referenceCHis [H]3107
28734845327 rs370372576 0.000byClusterbyFreq YessynonymousTPhe [F]3109
contig referenceCPhe [F]3109
28734846328 rs886566274 N.D. missenseAMet [M]1110
contig referenceGVal [V]1110
28734852334 rs767680465 N.D. missenseGVal [V]1112
contig referenceAIle [I]1112
28734853335 rs1160090807 N.D. missenseCThr [T]2112
contig referenceTIle [I]2112
28734864346 rs1412304136 N.D. synonymousTLeu [L]1116
contig referenceCLeu [L]1116
28734871353 rs373716841 0.000byCluster YesmissenseGArg [R]2118
contig referenceAHis [H]2118
28734875357 rs1413428701 N.D. synonymousAVal [V]3119
contig referenceGVal [V]3119
28734877359 rs1489672696 N.D. missenseCPro [P]2120
contig referenceAHis [H]2120
28734878360 rs754000914 0.000 synonymousTHis [H]3120
contig referenceCHis [H]3120
28734882364 rs759807964 0.000 missenseTTyr [Y]1122
contig referenceCHis [H]1122
28734886368 rs112540583 0.000 YesmissenseAHis [H]2123
contig referenceTLeu [L]2123
28734897379 rs752792782 0.000 nonsenseT1127
missenseGGly [G]1127
contig referenceCArg [R]1127
28734903385 rs201202318 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTPhe [F]1129
contig referenceCLeu [L]1129
28734910392 rs377101536 0.000byCluster YesmissenseGSer [S]2131
contig referenceCThr [T]2131
28734911393 rs1309751642 N.D. synonymousGThr [T]3131
contig referenceCThr [T]3131
28734917399 rs190836699 0.000byClusterWith1000GenomeData0.0002 YessynonymousTAsn [N]3133
contig referenceCAsn [N]3133
28734923405 rs1343076281 N.D. frame shift-His [H]3136
contig reference(14bp)Leu [L]3136
28734927409 rs752897050 N.D. missenseCHis [H]1137
contig referenceGAsp [D]1137
28734936418 rs757554273 0.000byFreq missenseASer [S]1140
missenseTCys [C]1140
contig referenceCArg [R]1140
28734937419 rs141599330 0.000byClusterbyFreqWith1000GenomeData YesmissenseAHis [H]2140
missenseTLeu [L]2140
contig referenceGArg [R]2140
28734939421 rs778519358 0.000 missenseGVal [V]1141
contig referenceAMet [M]1141
28734944426 rs539805517 0.000byFreqWith1000GenomeData0.0002 synonymousTVal [V]3142
contig referenceCVal [V]3142
28734945427 rs771755365 0.000byFreq missenseAIle [I]1143
contig referenceGVal [V]1143
28734953435 rs773267212 0.000byFreq synonymousTIle [I]3145
contig referenceCIle [I]3145
28734954436 rs747034129 0.000byFreq missenseASer [S]1146
contig referenceGGly [G]1146
28734955437 rs770564532 0.000 missenseTVal [V]2146
contig referenceGGly [G]2146
28734959441 rs1477471785 N.D. synonymousCAsp [D]3147
contig referenceTAsp [D]3147
28734962444 rs776495618 0.000byFreq synonymousTPhe [F]3148
contig referenceCPhe [F]3148
28734964446 rs1407642885 N.D. missenseAAsp [D]2149
contig referenceGGly [G]2149
28734965447 rs759624858 0.000 synonymousAGly [G]3149
contig referenceCGly [G]3149
28734968450 rs1480128080 N.D. synonymousTIle [I]3150
contig referenceCIle [I]3150
28734974456 rs1330602104 N.D. synonymousALys [K]3152
contig referenceGLys [K]3152
28734977459 rs765525081 0.000 synonymousTIle [I]3153
contig referenceCIle [I]3153
28734998480 rs775727006 0.000byFreq synonymousGAla [A]3160
contig referenceCAla [A]3160
28735003485 rs753159210 0.000 missenseTMet [M]2162
contig referenceCThr [T]2162
28735004486 rs764218968 0.000 synonymousAThr [T]3162
contig referenceGThr [T]3162
28735241488 rs764097839 0.000 missenseGGly [G]2163
contig referenceTVal [V]2163
28735246493 rs1270625027 N.D. missenseTCys [C]1165
contig referenceGGly [G]1165
28735260507 rs774429112 0.000byFreq synonymousCTyr [Y]3169
contig referenceTTyr [Y]3169
28735273520 rs762177713 0.000 synonymousTLeu [L]1174
contig referenceCLeu [L]1174
28735283530 rs1056787465 N.D. missenseTVal [V]2177
contig referenceGGly [G]2177
28735296543 rs768102953 0.000 synonymousTAsn [N]3181
contig referenceCAsn [N]3181
28735298545 rs915615007 N.D. frame shift-Glu [E]2183
contig referenceAGLys [K]2183
28735302549 rs1430304072 N.D. missenseTAsn [N]3183
contig referenceGLys [K]3183
28735311558 rs878915879 N.D.byCluster synonymousAIle [I]3186
synonymousTIle [I]3186
contig referenceCIle [I]3186
28735331578 rs750935779 0.000 missenseCPro [P]2193
contig referenceTLeu [L]2193
28735332579 rs756486155 0.000 synonymousTLeu [L]3193
contig referenceCLeu [L]3193
28735335582 rs201773965 0.001byClusterbyFreqWith1000GenomeData0.0004 YesnonsenseG3194
synonymousTTyr [Y]3194
contig referenceCTyr [Y]3194
28735336583 rs752331372 0.000byFreq missenseALys [K]1195
contig referenceGGlu [E]1195
28735339586 rs758136571 0.000 missenseGVal [V]1196
contig referenceCLeu [L]1196
28735340587 rs1443838418 N.D. missenseAGln [Q]2196
contig referenceTLeu [L]2196
28735342589 rs756231248 N.D. missenseCPro [P]1197
contig referenceGAla [A]1197
28735350597 rs777365994 0.000byFreq synonymousTLeu [L]3199
contig referenceCLeu [L]3199
28735352599 rs1362747854 N.D. missenseGArg [R]2200
contig referenceALys [K]2200
28735353600 rs1383930896 N.D. synonymousALys [K]3200
contig referenceGLys [K]3200
28735362609 rs555501870 0.000byFreqWith1000GenomeData0.0002 synonymousTPhe [F]3203
contig referenceCPhe [F]3203
28735363610 rs756755633 0.000byFreq missenseALys [K]1204
contig referenceGGlu [E]1204
28735370617 rs1246026075 N.D. missenseTVal [V]2206
contig referenceCAla [A]2206
28735371618 rs778770826 0.000byCluster synonymousAAla [A]3206
synonymousCAla [A]3206
contig referenceGAla [A]3206
28737326639 rs372495226 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousALeu [L]3213
synonymousCLeu [L]3213
contig referenceGLeu [L]3213
28737328641 rs1364789865 N.D. missenseGArg [R]2214
contig referenceALys [K]2214
28737329642 rs919899482 N.D. missenseTAsn [N]3214
contig referenceGLys [K]3214
28737331644 rs756062054 0.000 missenseCThr [T]2215
contig referenceTIle [I]2215
28737334647 rs1174108682 N.D. missenseGArg [R]2216
contig referenceTMet [M]2216
28737336649 rs1348626245 N.D. missenseGGly [G]1217
contig referenceASer [S]1217
28737337650 rs779777153 0.000byFreq missenseCThr [T]2217
contig referenceGSer [S]2217
28737340653 rs1470628447 N.D. missenseAAsp [D]2218
contig referenceGGly [G]2218
28737341654 rs749113560 0.000byFreq synonymousTGly [G]3218
contig referenceCGly [G]3218
28737344657 rs1398675359 N.D. synonymousGThr [T]3219
contig referenceCThr [T]3219
28737349662 rs1446547464 N.D. missenseTVal [V]2221
contig referenceCAla [A]2221
28737353666 rs768482115 0.000byCluster synonymousCPro [P]3222
contig referenceTPro [P]3222
28737354667 rs965652855 N.D. missenseGVal [V]1223
contig referenceAIle [I]1223
28737356669 rs1217098088 N.D. synonymousTIle [I]3223
contig referenceCIle [I]3223
28737360673 rs1403766728 N.D. missenseCHis [H]1225
contig referenceGAsp [D]1225
28737363676 rs779175681 0.000byFreq missenseTTrp [W]1226
contig referenceCArg [R]1226
28737364677 rs1323633715 N.D. missenseAGln [Q]2226
contig referenceGArg [R]2226
28737368681 rs1224755004 N.D. synonymousTTyr [Y]3227
contig referenceCTyr [Y]3227
28737370683 rs1256104116 N.D. missenseAAsn [N]2228
contig referenceGSer [S]2228
28737378691 rs761700543 0.000 frame shiftTSer [S]1232
contig reference-Arg [R]1232
28737381694 rs1199087140 N.D. missenseTCys [C]1232
contig referenceCArg [R]1232
28737382695 rs571858492 0.000byFreqWith1000GenomeData0.0002 missenseAHis [H]2232
contig referenceGArg [R]2232
28737385698 rs998130840 N.D. missenseTLeu [L]2233
contig referenceAGln [Q]2233
28737387700 rs1481777053 N.D. missenseGVal [V]1234
contig referenceCLeu [L]1234
28737396709 rs772120778 0.000byFreq missenseTCys [C]1237
contig referenceASer [S]1237
28737399712 rs1266867742 N.D. synonymousTLeu [L]1238
contig referenceCLeu [L]1238
28737401714 rs150904619 0.000byCluster YessynonymousTLeu [L]3238
contig referenceALeu [L]3238
28737414727 rs761213446 0.000 missenseAThr [T]1243
contig referenceCPro [P]1243
28737416729 rs1422152256 N.D. synonymousCPro [P]3243
contig referenceTPro [P]3243
28737422735 rs374149079 N.D.byCluster YessynonymousAGln [Q]3245
contig referenceGGln [Q]3245
28737423736 rs1030717524 N.D. missenseTTrp [W]1246
contig referenceCArg [R]1246
28737424737 rs368802852 0.000byClusterbyFreq YesmissenseAGln [Q]2246
contig referenceGArg [R]2246
28737428741 rs1008403695 N.D. synonymousGPro [P]3247
contig referenceAPro [P]3247
28737431744 rs777314185 0.000 synonymousGPro [P]3248
synonymousTPro [P]3248
contig referenceAPro [P]3248
28737434747 rs759955490 0.000byFreq synonymousTLeu [L]3249
contig referenceCLeu [L]3249
28737437750 rs765574881 0.000byFreq synonymousTSer [S]3250
contig referenceCSer [S]3250
28737438751 rs1041192655 N.D. missenseTTyr [Y]1251
contig referenceCHis [H]1251
28737445758 rs751222874 0.000 missenseCThr [T]2253
contig referenceTMet [M]2253
28737452765 rs1406276832 N.D. missenseTHis [H]3255
contig referenceGGln [Q]3255
28737453766 rs953366293 N.D. missenseGAla [A]1256
contig referenceCPro [P]1256
28737454767 rs901609723 N.D. missenseGArg [R]2256
contig referenceCPro [P]2256
28737455768 rs761378547 0.000 synonymousGPro [P]3256
contig referenceCPro [P]3256
28737458771 rs1317276183 N.D. synonymousTLeu [L]3257
contig referenceCLeu [L]3257
28737462775 rs766998922 0.000 missenseGVal [V]1259
contig referenceAIle [I]1259
28737465778 rs749926987 0.000byClusterbyFreq missenseTCys [C]1260
contig referenceCArg [R]1260
28737466779 rs61745003 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]2260
contig referenceGArg [R]2260
28737468781 rs1220491438 N.D. missenseAThr [T]1261
contig referenceGAla [A]1261
28737473786 rs958142592 N.D. synonymousTLeu [L]3262
contig referenceCLeu [L]3262
28737477790 rs199686657 N.D.With1000GenomeData missenseGAsp [D]1264
contig referenceAAsn [N]1264
28737482795 rs765165873 0.000 frame shift-Thr [T]3266
contig referenceCHis [H]3266
28737482795 rs766273600 0.000 synonymousGLeu [L]3265
contig referenceCLeu [L]3265
28737483796 rs753823379 0.000 missenseTTyr [Y]1266
contig referenceCHis [H]1266
28737486799 rs1261106498 N.D. missenseGAla [A]1267
contig referenceAThr [T]1267
28737488801 rs754756615 0.000byClusterbyFreq synonymousTThr [T]3267
contig referenceCThr [T]3267
28737489802 rs150032203 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAAsn [N]1268
contig referenceGAsp [D]1268
28737491804 rs748341861 0.000byFreq synonymousTAsp [D]3268
contig referenceCAsp [D]3268
28737492805 rs758570956 0.000 missenseAMet [M]1269
missenseTLeu [L]1269
contig referenceGVal [V]1269
28737494807 rs1463094819 N.D. synonymousCVal [V]3269
contig referenceGVal [V]3269
28737500813 rs1409767871 N.D. synonymousCSer [S]3271
contig referenceTSer [S]3271
28737504817 rs371673804 0.000byClusterbyFreq missenseTCys [C]1273
contig referenceCArg [R]1273
28737505818 rs747051346 0.000byFreq missenseAHis [H]2273
missenseTLeu [L]2273
contig referenceGArg [R]2273
28737510823 rs575340105 0.000byFreqWith1000GenomeData0.0002 missenseTTrp [W]1275
contig referenceCArg [R]1275
28737511824 rs746446513 0.000byFreq missenseAGln [Q]2275
contig referenceGArg [R]2275
28737513826 rs770133538 0.000 synonymousCArg [R]1276
contig referenceAArg [R]1276
28737675828 rs1282140373 N.D. synonymousAArg [R]3276
contig referenceGArg [R]3276
28737676829 rs939808328 N.D. missenseTSer [S]1277
contig referenceGAla [A]1277
28737682835 rs547832553 N.D. missenseGGlu [E]1279
contig referenceALys [K]1279
28737683836 rs1225879900 N.D. missenseTMet [M]2279
contig referenceALys [K]2279
28737684837 rs768900584 0.000 missenseCAsn [N]3279
contig referenceGLys [K]3279
28737687840 rs369911992 0.000byClusterbyFreq synonymousTSer [S]3280
contig referenceCSer [S]3280
28737688841 rs746614881 0.000byFreq missenseAMet [M]1281
contig referenceGVal [V]1281
28737690843 rs770600884 0.000 synonymousAVal [V]3281
contig referenceGVal [V]3281
28737692845 rs776304834 0.000 missenseGGly [G]2282
missenseTVal [V]2282
contig referenceCAla [A]2282
28737694847 rs1392853679 N.D. missenseTSer [S]1283
contig referenceCPro [P]1283
28737696849 rs1366648617 N.D. synonymousTPro [P]3283
contig referenceCPro [P]3283
28737698851 rs1331148851 N.D. missenseAAsn [N]2284
contig referenceGSer [S]2284
28737699852 rs901017983 N.D. missenseAArg [R]3284
contig referenceCSer [S]3284
28737700853 rs758943686 0.000 missenseGAsp [D]1285
contig referenceAAsn [N]1285
28737703856 rs769400967 0.000 missenseCPro [P]1286
contig referenceAThr [T]1286
28737704857 rs903553470 N.D. missenseGArg [R]2286
contig referenceCThr [T]2286
28737705858 rs750223792 0.000 frame shift-Glu [E]3287
contig referenceAGGly [G]3287
28737706859 rs867088734 N.D.byCluster missenseAArg [R]1287
contig referenceGGly [G]1287
28737708861 rs775282592 0.000 synonymousAGly [G]3287
contig referenceGGly [G]3287
28737710863 rs1217328350 N.D. missenseTIle [I]2288
contig referenceGSer [S]2288
28737714867 rs762949669 0.000byFreq missenseCSer [S]3289
synonymousAArg [R]3289
contig referenceGArg [R]3289
28737716869 rs763926909 0.000 missenseTIle [I]2290
contig referenceCThr [T]2290
28737719872 rs751426013 0.000 missenseTIle [I]2291
contig referenceCThr [T]2291
28737720873 rs762090303 0.000 synonymousTThr [T]3291
contig referenceCThr [T]3291
28737721874 rs758472009 0.000 frame shiftGTSer [S]1294
contig reference-Arg [R]1294
28737726879 rs1199578881 N.D. synonymousTVal [V]3293
contig referenceCVal [V]3293
28737727880 rs146113045 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]1294
contig referenceCArg [R]1294
28737728881 rs762967348 0.000byFreq missenseAHis [H]2294
missenseTLeu [L]2294
contig referenceGArg [R]2294
28737731884 rs1028246021 N.D. missenseATyr [Y]2295
missenseCSer [S]2295
missenseTPhe [F]2295
contig referenceGCys [C]2295
28737732885 rs889745310 N.D. synonymousTCys [C]3295
contig referenceCCys [C]3295
28737733886 rs756135134 0.000byFreq missenseGGly [G]1296
contig referenceAArg [R]1296
28737735888 rs1463355058 N.D. missenseTSer [S]3296
synonymousGArg [R]3296
contig referenceAArg [R]3296
28737819890 rs969190574 N.D. frame shiftTTyr [Y]2298
contig reference-Ile [I]2298
28737821892 rs1444939975 N.D. missenseGVal [V]1298
missenseTPhe [F]1298
contig referenceAIle [I]1298
28737823894 rs1168158199 N.D. synonymousAIle [I]3298
contig referenceCIle [I]3298
28737824895 rs368364890 N.D.byCluster missenseGAla [A]1299
contig referenceCPro [P]1299
28737826897 rs1164466584 N.D. synonymousTPro [P]3299
contig referenceCPro [P]3299
28737827898 rs1021507598 N.D. missenseTTrp [W]1300
contig referenceCArg [R]1300
28737828899 rs140077709 0.000byClusterbyFreq missenseAGln [Q]2300
contig referenceGArg [R]2300
28737831902 rs1475249201 N.D. missenseTVal [V]2301
contig referenceGGly [G]2301
28737836907 rs78886485 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAMet [M]1303
contig referenceGVal [V]1303
28737837908 rs1386376455 N.D. missenseCAla [A]2303
contig referenceTVal [V]2303
28737841912 rs952867330 N.D. synonymousAArg [R]3304
contig referenceGArg [R]3304
28737845916 rs773304270 0.034byClusterbyFreq missenseAThr [T]1306
contig referenceGAla [A]1306
28737846917 rs760957825 0.024byFreq missenseAAsp [D]2306
contig referenceCAla [A]2306
28737847918 rs766319019 0.022byFreq synonymousAAla [A]3306
contig referenceCAla [A]3306
28737849920 rs188788169 N.D.With1000GenomeData missenseCThr [T]2307
contig referenceTIle [I]2307
28737860931 rs548964773 0.000With1000GenomeData0.0002 synonymousTLeu [L]1311
contig referenceCLeu [L]1311
28737862933 rs780140058 0.000 frame shift-Arg [R]3312
contig referenceGSer [S]3312
28737864935 rs200212844 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTLeu [L]2312
contig referenceCSer [S]2312
28737865936 rs146798411 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousASer [S]3312
contig referenceGSer [S]3312
28737871942 rs1481770999 N.D. synonymousAVal [V]3314
contig referenceGVal [V]3314
28737882953 rs753256955 0.000 missenseAAsp [D]2318
contig referenceGGly [G]2318
28737890961 rs983735559 N.D. missenseGVal [V]1321
contig referenceCLeu [L]1321
28737893964 rs751089803 0.000 -1322
28737894965 rs758754646 0.000 missenseAAsp [D]2322
contig referenceGGly [G]2322
28737895966 rs778201727 0.000byFreq synonymousTGly [G]3322
contig referenceCGly [G]3322
28737897968 rs371295223 0.000byClusterbyFreq missenseAAsn [N]2323
missenseTIle [I]2323
contig referenceCThr [T]2323
28737898969 rs1335576430 N.D. synonymousAThr [T]3323
contig referenceCThr [T]3323
28737899970 rs1330012579 N.D. missenseTSer [S]1324
contig referenceCPro [P]1324
28737900971 rs755816415 0.000 missenseTLeu [L]2324
contig referenceCPro [P]2324
28737901972 rs779393817 0.000 synonymousGPro [P]3324
contig referenceCPro [P]3324
28737902973 rs1158551302 N.D. missenseGVal [V]1325
synonymousTLeu [L]1325
contig referenceCLeu [L]1325
28737905976 rs56286645 0.000byClusterbyFreq missenseTTrp [W]1326
contig referenceCArg [R]1326
28737906977 rs200972000 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2326
contig referenceGArg [R]2326
28737913984 rs1335338134 N.D. synonymousGPro [P]3328
contig referenceAPro [P]3328
28737914985 rs142234912 0.000byClusterbyFreqWith1000GenomeData0.0008 missenseGVal [V]1329
contig referenceAMet [M]1329
28737917988 rs199962228 0.000byClusterbyFreq missenseTPhe [F]1330
contig referenceCLeu [L]1330
28737918989 rs1156776265 N.D. missenseCPro [P]2330
contig referenceTLeu [L]2330
28737925996 rs754385014 0.000 frame shift-Gly [G]3333
contig referenceAGGlu [E]3333
287379311002 rs1390454987 N.D. synonymousAVal [V]3334
contig referenceGVal [V]3334
287379341005 rs1307176107 N.D. synonymousGVal [V]3335
synonymousTVal [V]3335
contig referenceCVal [V]3335
287379361007 rs1221792863 N.D. missenseGArg [R]2336
contig referenceAGln [Q]2336
287379371008 rs1318207444 N.D. synonymousAGln [Q]3336
contig referenceGGln [Q]3336
287379401011 rs773075496 0.000byFreq synonymousAVal [V]3337
contig referenceGVal [V]3337
287379421013 rs760766665 0.000byFreq missenseAGlu [E]2338
missenseTVal [V]2338
contig referenceCAla [A]2338
287379451016 rs1183796012 N.D. missenseTVal [V]2339
contig referenceCAla [A]2339
287379461017 rs776765761 0.000 synonymousCAla [A]3339
contig referenceTAla [A]3339
287379491020 rs1205381374 N.D. synonymousAGly [G]3340
contig referenceGGly [G]3340
287379501021 rs767947984 0.000byFreq missenseTCys [C]1341
contig referenceCArg [R]1341
287379511022 rs765364445 0.000 missenseAHis [H]2341
contig referenceGArg [R]2341
287379521023 rs753134520 0.000byFreq synonymousTArg [R]3341
contig referenceCArg [R]3341
287379541025 rs758918296 0.000 missenseALys [K]2342
missenseTMet [M]2342
contig referenceCThr [T]2342
287379551026 rs368639779 0.000byClusterbyFreq synonymousAThr [T]3342
contig referenceGThr [T]3342
287379591030 rs1174322229 N.D. missenseGGlu [E]1344
contig referenceALys [K]1344
287379621033 rs1429254135 N.D. missenseTSer [S]1345
contig referenceGAla [A]1345
287379631034 rs200489118 0.002byCluster missenseTVal [V]2345
contig referenceCAla [A]2345
287379641035 rs751987503 0.000 synonymousTAla [A]3345
contig referenceCAla [A]3345
287379651036 rs1179113718 N.D. missenseASer [S]1346
contig referenceGGly [G]1346
287379661037 rs1353124864 N.D. missenseAAsp [D]2346
contig referenceGGly [G]2346
287379671038 rs757603639 0.000 synonymousTGly [G]3346
contig referenceCGly [G]3346
287379681039 rs372172665 0.000byClusterbyFreq missenseAIle [I]1347
contig referenceGVal [V]1347
287379701041 rs749011475 0.000 synonymousTVal [V]3347
contig referenceCVal [V]3347
287379721043 rs376531637 0.000byClusterbyFreq missenseTMet [M]2348
contig referenceCThr [T]2348
287379731044 rs151217692 0.000byClusterbyFreq synonymousAThr [T]3348
contig referenceGThr [T]3348
287379741045 rs889694432 N.D. missenseTCys [C]1349
contig referenceCArg [R]1349
287379751046 rs140363905 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]2349
missenseCPro [P]2349
missenseTLeu [L]2349
contig referenceGArg [R]2349
287379781049 rs746794190 0.000 missenseTPhe [F]2350
contig referenceCSer [S]2350
287379801051 rs1306721390 N.D. missenseAArg [R]1351
contig referenceGGly [G]1351
287379831054 rs1204896833 N.D. missenseTCys [C]1352
contig referenceCArg [R]1352
287379841055 rs199933041 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]2352
missenseTLeu [L]2352
contig referenceGArg [R]2352
287379851056 rs1027208322 N.D. synonymousAArg [R]3352
contig referenceTArg [R]3352
287379911062 rs776828602 0.000 synonymousTIle [I]3354
contig referenceCIle [I]3354
287379921063 rs1396184153 N.D. synonymousTLeu [L]1355
contig referenceCLeu [L]1355
287379941065 rs759758319 0.000 synonymousALeu [L]3355
contig referenceGLeu [L]3355
287379961067 rs1455814343 N.D. nonsenseA2356
contig referenceGTrp [W]2356
287380001071 rs1268261301 N.D. synonymousAGlu [E]3357
contig referenceGGlu [E]3357
287380971074 rs1344590394 N.D. synonymousGAla [A]3358
contig referenceCAla [A]3358
287381001077 rs775731270 0.000 synonymousGPro [P]3359
contig referenceAPro [P]3359
287381011078 rs368688884 0.000byClusterbyFreq missenseAThr [T]1360
missenseTSer [S]1360
contig referenceCPro [P]1360
287381021079 rs768677742 0.000 missenseAHis [H]2360
contig referenceCPro [P]2360
287381041081 rs959589808 N.D. missenseGVal [V]1361
contig referenceCLeu [L]1361
287381091086 rs202091769 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAGly [G]3362
contig referenceTGly [G]3362
287381111088 rs954240143 N.D. missenseTVal [V]2363
contig referenceCAla [A]2363
287381151092 rs201321032 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousTGly [G]3364
contig referenceCGly [G]3364
287381161093 rs202102961 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAArg [R]1365
contig referenceGGly [G]1365
287381191096 rs200428176 0.000byClusterWith1000GenomeData0.0002 missenseASer [S]1366
contig referenceGGly [G]1366
287381231100 rs374175041 0.000byClusterbyFreq missenseAAsn [N]2367
missenseCThr [T]2367
contig referenceGSer [S]2367
287381251102 rs752452156 0.000 missenseGVal [V]1368
contig referenceCLeu [L]1368
287381271104 rs1052596453 N.D. synonymousTLeu [L]3368
contig referenceCLeu [L]3368
287381361113 rs367654888 0.000byCluster synonymousAGly [G]3371
contig referenceGGly [G]3371
287381371114 rs757916936 0.000byFreq missenseTSer [S]1372
contig referenceGAla [A]1372
287381401117 rs1183328127 N.D. missenseAMet [M]1373
contig referenceGVal [V]1373
287381411118 rs777152445 0.000 missenseCAla [A]2373
contig referenceTVal [V]2373
287381421119 rs1446063690 N.D. synonymousAVal [V]3373
contig referenceGVal [V]3373
287381431120 rs751455589 0.000 missenseALys [K]1374
contig referenceGGlu [E]1374
287381571134 rs1475141368 N.D. synonymousTPro [P]3378
contig referenceCPro [P]3378
287381681145 rs146989750 0.000byClusterbyFreq missenseTLeu [L]2382
contig referenceCSer [S]2382
287381691146 rs780922648 0.000byFreq synonymousASer [S]3382
synonymousCSer [S]3382
synonymousTSer [S]3382
contig referenceGSer [S]3382
287381701147 rs780241960 0.000byFreq missenseASer [S]1383
missenseGGly [G]1383
missenseTCys [C]1383
contig referenceCArg [R]1383
287381711148 rs138066977 0.001byClusterbyFreq missenseAHis [H]2383
missenseCPro [P]2383
contig referenceGArg [R]2383
287381711148 rs780916071 0.000 frame shiftTTSer [S]2385
contig reference-Leu [L]2385
287381761153 rs1161223749 N.D. synonymousTLeu [L]1385
contig referenceCLeu [L]1385
287381781155 rs1270462915 N.D. synonymousALeu [L]3385
contig referenceGLeu [L]3385
287381811158 rs1213574842 N.D. synonymousAGlu [E]3386
contig referenceGGlu [E]3386
287381831160 rs748643938 0.000 missenseAAsp [D]2387
missenseTVal [V]2387
contig referenceGGly [G]2387
287381841161 rs1451697201 N.D. synonymousGGly [G]3387
synonymousTGly [G]3387
contig referenceCGly [G]3387
287381871164 rs1337122343 N.D. synonymousAGln [Q]3388
contig referenceGGln [Q]3388
287381891166 rs199853008 0.000byClusterbyFreq missenseTLeu [L]2389
contig referenceCSer [S]2389
287381901167 rs773902843 0.000 synonymousASer [S]3389
synonymousTSer [S]3389
contig referenceGSer [S]3389
287381931170 rs3809797 0.233byClusterbyFreqwith2hitWith1000GenomeData0.2115 synonymousCGly [G]3390
contig referenceTGly [G]3390
287382001177 rs371406871 0.000byClusterbyFreq missenseGVal [V]1393
contig referenceAIle [I]1393
287382021179 rs775138270 0.000byFreq missenseGMet [M]3393
contig referenceCIle [I]3393
287382041181 rs374930363 0.000byCluster missenseGArg [R]2394
contig referenceALys [K]2394
287382061183 rs763610690 0.000byFreq missenseTTyr [Y]1395
contig referenceCHis [H]1395
287382081185 rs574347342 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTHis [H]3395
contig referenceCHis [H]3395
287382091186 rs145862009 0.000byClusterbyFreq missenseAMet [M]1396
contig referenceGVal [V]1396
287382101187 rs1443856330 N.D. frame shiftGGly [G]2397
contig reference-Ala [A]2397
287382151192 rs1179235377 N.D. missenseCArg [R]1398
contig referenceTCys [C]1398
287382161193 rs767422789 0.000 missenseATyr [Y]2398
missenseCSer [S]2398
contig referenceGCys [C]2398
287382201197 rs750419550 0.000 synonymousAGly [G]3399
contig referenceGGly [G]3399
287382211198 rs755900226 0.000 missenseTTyr [Y]1400
contig referenceGAsp [D]1400
287382231200 rs186958324 N.D.With1000GenomeData missenseAGlu [E]3400
contig referenceCAsp [D]3400
287382261203 rs1427173349 N.D. synonymousTPhe [F]3401
contig referenceCPhe [F]3401
287382271204 rs1469214574 N.D. missenseCLeu [L]1402
missenseGVal [V]1402
contig referenceTPhe [F]1402
287382341211 rs747712613 0.000 CTGCCT [CL]2406
287382391216 rs779830257 0.000 missenseGVal [V]1406
synonymousTLeu [L]1406
contig referenceCLeu [L]1406
287382431220 rs749473321 0.000 missenseGSer [S]2407
missenseTIle [I]2407
contig referenceCThr [T]2407
287386781230 rs547898079 0.000With1000GenomeData0.0002 synonymousTGly [G]3410
contig referenceCGly [G]3410
287386801232 rs778986582 0.000 missenseAAsn [N]2411
missenseGSer [S]2411
contig referenceTIle [I]2411
287386841236 rs746216630 0.000 frame shift-3413
contig referenceCMet [M]3413
287386841236 rs748466403 0.000 missenseGMet [M]3412
contig referenceCIle [I]3412
287386851237 rs141650477 0.001byClusterbyFreqWith1000GenomeData0.0030 missenseCLeu [L]1413
missenseGVal [V]1413
contig referenceAMet [M]1413
287386881240 rs1192280514 N.D. missenseGAla [A]1414
contig referenceAThr [T]1414
287386911243 rs1357100023 N.D. missenseCLeu [L]1415
contig referenceTPhe [F]1415
287386931245 rs1373429777 N.D. synonymousTPhe [F]3415
contig referenceCPhe [F]3415
287386941246 rs199823733 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseASer [S]1416
contig referenceGGly [G]1416
287386991251 rs149239987 0.000byClusterbyFreq synonymousTSer [S]3417
contig referenceCSer [S]3417
287387001252 rs144859767 0.000byClusterbyFreq missenseASer [S]1418
contig referenceGGly [G]1418
287387071259 rs781741330 0.000 missenseGSer [S]2420
contig referenceAAsn [N]2420
287387101262 rs1294164193 N.D. missenseAGlu [E]2421
contig referenceGGly [G]2421
287387111263 rs147061645 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousAGly [G]3421
contig referenceGGly [G]3421
287387141266 rs1486536395 N.D. nonsenseA3422
synonymousTCys [C]3422
contig referenceCCys [C]3422
287387161268 rs1381016878 N.D. missenseCPro [P]2423
contig referenceTLeu [L]2423
287387181270 rs1202817787 N.D. missenseCArg [R]1424
contig referenceGGly [G]1424
287387191271 rs770252502 0.000 missenseAAsp [D]2424
contig referenceGGly [G]2424
287387231275 rs773872715 0.000byFreq synonymousCHis [H]3425
contig referenceTHis [H]3425
287387241276 rs867565343 N.D. missenseASer [S]1426
contig referenceGGly [G]1426
287387251277 rs761458745 0.000byFreq missenseAAsp [D]2426
contig referenceGGly [G]2426
287387271279 rs771514255 0.000 missenseGGly [G]1427
contig referenceASer [S]1427
287387281280 rs772733940 0.000byFreq missenseAAsn [N]2427
contig referenceGSer [S]2427
287387291281 rs1246139492 N.D. missenseAArg [R]3427
contig referenceCSer [S]3427
287387391291 rs769591444 N.D. missenseTPhe [F]1431
contig referenceAIle [I]1431
287390861302 rs762881102 0.000 synonymousTPro [P]3434
contig referenceCPro [P]3434
287390911307 rs1033398427 N.D. missenseCThr [T]2436
contig referenceTIle [I]2436
287390921308 rs764387148 0.000 synonymousCIle [I]3436
contig referenceTIle [I]3436
287391001316 rs751886209 0.000byFreq missenseTVal [V]2439
contig referenceCAla [A]2439
287391011317 rs757281147 0.000 synonymousAAla [A]3439
contig referenceTAla [A]3439
287391041320 rs767640829 0.000 synonymousALeu [L]3440
contig referenceGLeu [L]3440
287391121328 rs959115034 N.D. missenseGCys [C]2443
contig referenceATyr [Y]2443
287391141330 rs141973397 0.000byCluster nonsenseT1444
contig referenceGGlu [E]1444
287391171333 rs750838279 0.000 missenseGVal [V]1445
contig referenceAMet [M]1445
287391241340 rs984213613 N.D. missenseGArg [R]2447
contig referenceAGln [Q]2447
287391251341 rs756668202 0.000 missenseTHis [H]3447
contig referenceGGln [Q]3447
287391261342 rs1221614193 N.D. missenseAMet [M]1448
contig referenceGVal [V]1448
287391401356 rs1282492342 N.D. frame shift-Arg [R]3454
contig referenceCTHis [H]3454
287391441360 rs994391552 N.D. missenseAAsn [N]1454
missenseTTyr [Y]1454
contig referenceCHis [H]1454
287391461362 rs780360396 0.000byFreq synonymousTHis [H]3454
contig referenceCHis [H]3454
287391471363 rs146125605 0.000byClusterbyFreq missenseAMet [M]1455
missenseTLeu [L]1455
contig referenceGVal [V]1455
287391521368 rs375692011 N.D.byCluster synonymousALeu [L]3456
contig referenceGLeu [L]3456
287391531369 rs1479768232 N.D. missenseCPro [P]1457
contig referenceGAla [A]1457
287391541370 rs777396052 0.000 missenseTVal [V]2457
contig referenceCAla [A]2457
287391551371 rs140123861 0.000byClusterbyFreq synonymousAAla [A]3457
contig referenceCAla [A]3457
287391561372 rs972627450 N.D. missenseGVal [V]1458
contig referenceCLeu [L]1458
287391591375 rs922469329 N.D. missenseCPro [P]1459
contig referenceTSer [S]1459
287391621378 rs1197910839 N.D. missenseGAla [A]1460
contig referenceAThr [T]1460
287391681384 rs770284675 0.000 nonsenseT1462
missenseGGly [G]1462
contig referenceCArg [R]1462
287391691385 rs200577992 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2462
contig referenceGArg [R]2462
287391711387 rs745751512 0.000byFreq nonsenseT1463
missenseALys [K]1463
missenseCGln [Q]1463
contig referenceGGlu [E]1463
287391731389 rs1352456615 N.D. missenseTAsp [D]3463
contig referenceAGlu [E]3463
287391741390 rs775616086 0.000 synonymousTLeu [L]1464
contig referenceCLeu [L]1464
287391781394 rs1308482433 N.D. missenseCSer [S]2465
contig referenceTPhe [F]2465
287391831399 rs1372318322 N.D. missenseCArg [R]1467
contig referenceTTrp [W]1467
287391851401 rs762826555 0.000 nonsenseA3467
contig referenceGTrp [W]3467
287391861402 rs1282056599 N.D. missenseCArg [R]1468
contig referenceGGly [G]1468
287391891405 rs185563461 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]1469
missenseTCys [C]1469
contig referenceCArg [R]1469
287391901406 rs762108966 0.000byFreq missenseAHis [H]2469
contig referenceGArg [R]2469
287391931409 rs767447089 0.000 missenseAGlu [E]2470
contig referenceGGly [G]2470
287391971413 rs1346647219 N.D. missenseGGlu [E]3471
contig referenceCAsp [D]3471
287392001416 rs750550396 0.000byFreq missenseGArg [R]3472
synonymousTSer [S]3472
contig referenceCSer [S]3472
287392011417 rs766850842 0.000byFreq missenseASer [S]1473
contig referenceGGly [G]1473
287404631418 rs1249612238 N.D. missenseAAsp [D]2473
contig referenceGGly [G]2473
287404661421 rs1442557424 N.D. missenseTIle [I]2474
contig referenceGArg [R]2474
287404691424 rs755619522 0.000 missenseGArg [R]2475
contig referenceTLeu [L]2475
287404721427 rs1020098395 N.D. missenseAGlu [E]2476
contig referenceGGly [G]2476
287404731428 rs1374102896 N.D. synonymousAGly [G]3476
contig referenceGGly [G]3476
287404811436 rs548887208 N.D. missenseTIle [I]2479
contig referenceCThr [T]2479
287404831438 rs779726604 0.000 missenseGGly [G]1480
contig referenceAArg [R]1480
287404841439 rs749189681 0.000byFreq missenseCThr [T]2480
contig referenceGArg [R]2480
287404861441 rs1156282249 N.D. missenseALys [K]1481
contig referenceGGlu [E]1481
287404891444 rs1344128536 N.D. missenseCPro [P]1482
contig referenceTSer [S]1482
287404901445 rs1435309667 N.D. missenseTPhe [F]2482
contig referenceCSer [S]2482
287404911446 rs1056753725 N.D. synonymousASer [S]3482
contig referenceCSer [S]3482
287405041459 rs1002950135 N.D. missenseALys [K]1487
contig referenceCGln [Q]1487
287405061461 rs1322158039 N.D. synonymousAGln [Q]3487
contig referenceGGln [Q]3487
287405091464 rs200147224 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousAGln [Q]3488
contig referenceGGln [Q]3488
287405191474 rs1324695909 N.D. missenseGAla [A]1492
contig referenceCPro [P]1492
287405221477 rs778759496 0.000 missenseTSer [S]1493
contig referenceCPro [P]1493
287405251480 rs747957351 0.000 missenseAArg [R]1494
missenseCArg [R]1494
contig referenceGGly [G]1494
287405261481 rs143743028 0.000byCluster missenseAGlu [E]2494
missenseCAla [A]2494
contig referenceGGly [G]2494
287405271482 rs1230571665 N.D. synonymousGGly [G]3494
contig referenceAGly [G]3494
287405301485 rs371752114 0.000byCluster synonymousAGln [Q]3495
contig referenceGGln [Q]3495
287405341489 rs146326420 0.002byClusterbyFreq missenseCPro [P]1497
contig referenceGAla [A]1497
287405401495 rs565763400 0.000byFreqWith1000GenomeData0.0002 nonsenseT1499
contig referenceCArg [R]1499
287405411496 rs770946405 0.000byFreq missenseAGln [Q]2499
missenseCPro [P]2499
contig referenceGArg [R]2499
287405431498 rs1389254156 N.D. missenseAIle [I]1500
contig referenceGVal [V]1500
287405491504 rs759649914 0.000 missenseASer [S]1502
missenseCArg [R]1502
missenseGGly [G]1502
contig referenceTCys [C]1502
287405511506 rs376254341 0.000byCluster synonymousCCys [C]3502
contig referenceTCys [C]3502
287405581513 rs899004091 N.D. missenseAAsn [N]1505
contig referenceGAsp [D]1505
287405631518 rs1224462336 N.D. synonymousGSer [S]3506
contig referenceCSer [S]3506
287405681523 rs753200646 0.000 missenseALys [K]2508
contig referenceTMet [M]2508
287405701525 rs963682726 N.D. missenseTPhe [F]1509
contig referenceAIle [I]1509
287405731528 rs1237888702 N.D. missenseTPhe [F]1510
contig referenceCLeu [L]1510
287405761531 rs1473717377 N.D. missenseGAla [A]1511
contig referenceAThr [T]1511
287405811536 rs763371587 0.000 synonymousCVal [V]3512
contig referenceGVal [V]3512
287405841539 rs368315047 0.000byClusterbyFreq synonymousCPro [P]3513
contig referenceTPro [P]3513
287405931548 rs750034321 0.000 synonymousAAla [A]3516
synonymousGAla [A]3516
synonymousTAla [A]3516
contig referenceCAla [A]3516
287405971552 rs1160833574 N.D. missenseAThr [T]1518
contig referenceGAla [A]1518
287408251572 rs764471241 0.000byFreq synonymousTPhe [F]3524
contig referenceCPhe [F]3524
287408281575 rs761838070 N.D. missenseALys [K]3525
contig referenceCAsn [N]3525
287408431590 rs1411024879 N.D. synonymousTAsp [D]3530
contig referenceCAsp [D]3530
287408471594 rs774611762 0.000 missenseTPhe [F]1532
contig referenceCLeu [L]1532
287408491596 rs1203651567 N.D. synonymousTLeu [L]3532
contig referenceCLeu [L]3532
287408511598 rs1343752077 N.D. frame shift-Gly [G]2534
contig referenceCCLeu [L]2534
287408521599 rs199897528 0.002 synonymousGSer [S]3533
contig referenceCSer [S]3533
287408521599 rs1383064593 N.D. frame shift-Ser [S]3535
contig reference(13bp)Gly [G]3535
287408541601 rs776742176 0.000 frame shift-Arg [R]2534
contig referenceTLeu [L]2534
287408541601 rs1275673550 N.D. missenseAGln [Q]2534
missenseGArg [R]2534
contig referenceTLeu [L]2534
287408601607 rs1347490691 N.D. missenseGGly [G]2536
contig referenceAGlu [E]2536
287408641611 rs1212577862 N.D. synonymousAGlu [E]3537
contig referenceGGlu [E]3537
287408651612 rs762310685 0.000 missenseGAla [A]1538
contig referenceCPro [P]1538
287408701617 rs1483326019 N.D. synonymousGVal [V]3539
contig referenceCVal [V]3539
287408721619 rs1465136030 N.D. missenseTLeu [L]2540
contig referenceCPro [P]2540
287408731620 rs1406228551 N.D. synonymousTPro [P]3540
contig referenceCPro [P]3540
287408851632 rs766110309 0.000byFreq synonymousAVal [V]3544
synonymousCVal [V]3544
contig referenceGVal [V]3544
287408881635 rs1266091061 N.D. synonymousAGlu [E]3545
contig referenceGGlu [E]3545
287408911638 rs372820617 0.000 synonymousAGlu [E]3546
contig referenceGGlu [E]3546
287408931640 rs753606312 0.000byFreq missenseTVal [V]2547
contig referenceCAla [A]2547
287408941641 rs8073738 0.005byClusterbyFreqWith1000GenomeData0.0070 synonymousTAla [A]3547
contig referenceCAla [A]3547
287408971644 rs1430019314 N.D. synonymousALeu [L]3548
contig referenceGLeu [L]3548
287408991646 rs764662024 0.000 missenseAAsn [N]2549
contig referenceGSer [S]2549
287409001647 rs752628748 0.000 missenseAArg [R]3549
contig referenceCSer [S]3549
287409061653 rs758294520 0.000 synonymousCThr [T]3551
contig referenceAThr [T]3551
287409091656 rs777804200 0.000byFreq synonymousGLeu [L]3552
contig referenceALeu [L]3552
287409141661 rs938959107 N.D. missenseAAsp [D]2554
contig referenceGGly [G]2554
287409201667 rs779059816 0.000 missenseTVal [V]2556
contig referenceCAla [A]2556
287409211668 rs1171057539 N.D. synonymousTAla [A]3556
contig referenceAAla [A]3556
287409281675 rs992428098 N.D. missenseAAsn [N]1559
contig referenceGAsp [D]1559
287409311678 rs757099836 0.000 missenseGGlu [E]1560
contig referenceCGln [Q]1560
287409321679 rs781386020 0.000byFreq missenseCPro [P]2560
missenseTLeu [L]2560
contig referenceAGln [Q]2560
287409341681 rs1333030658 N.D. missenseALys [K]1561
contig referenceGGlu [E]1561
287409361683 rs769853650 0.000byFreq synonymousAGlu [E]3561
contig referenceGGlu [E]3561
287409371684 rs1016304124 N.D. missenseTSer [S]1562
contig referenceCPro [P]1562
287409381685 rs775454518 0.000 missenseTLeu [L]2562
contig referenceCPro [P]2562
287409471694 rs749762875 0.000 missenseAAsn [N]2565
contig referenceGSer [S]2565
287409491696 rs1481828106 N.D. missenseGVal [V]1566
contig referenceAIle [I]1566
287409501697 rs535552549 0.000With1000GenomeData0.0002 missenseCThr [T]2566
contig referenceTIle [I]2566
287409511698 rs1289510704 N.D. missenseGMet [M]3566
contig referenceAIle [I]3566
287409541701 rs775047776 0.000byFreq synonymousTAsp [D]3567
contig referenceCAsp [D]3567
287409551702 rs566544215 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAMet [M]1568
contig referenceCLeu [L]1568
287409631710 rs768063742 0.000 synonymousAThr [T]3570
contig referenceTThr [T]3570
287409651712 rs776359938 0.000 missenseTVal [V]2571
contig referenceCAla [A]2571
287409691716 rs759278761 0.000 synonymousTHis [H]3572
contig referenceCHis [H]3572
287409761723 rs745898957 0.000 missenseAThr [T]1575
missenseTSer [S]1575
contig referenceGAla [A]1575
287409801727 rs963698842 N.D. missenseGGly [G]2576
contig referenceTVal [V]2576
287409851732 rs752115248 0.000 missenseTSer [S]1578
contig referenceGAla [A]1578
287410801735 rs1314785226 N.D. missenseGAla [A]1579
contig referenceTSer [S]1579
287410811736 rs149987249 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTLeu [L]2579
contig referenceCSer [S]2579
287410821737 rs376335658 0.000byClusterbyFreq synonymousASer [S]3579
synonymousCSer [S]3579
contig referenceGSer [S]3579
287410831738 rs751440831 0.000 missenseASer [S]1580
contig referenceGGly [G]1580
287410861741 rs558885403 N.D.byCluster missenseAAsn [N]1581
contig referenceGAsp [D]1581
287410931748 rs890361819 N.D. missenseGCys [C]2583
contig referenceATyr [Y]2583
287410941749 rs765544719 0.000 frame shift-Ser [S]3584
contig reference(16bp)Thr [T]3584
287410941749 rs1201424157 N.D. synonymousTTyr [Y]3583
contig referenceCTyr [Y]3583
287410971752 rs773211410 0.000 frame shift-Leu [L]3585
contig referenceTPhe [F]3585
287410991754 rs761761392 0.000 missenseCSer [S]2585
contig referenceTPhe [F]2585
287411111766 rs371087767 0.000byCluster missenseGArg [R]2589
contig referenceAGln [Q]2589
287411121767 rs767261329 0.000 synonymousAGln [Q]3589
contig referenceGGln [Q]3589
287411131768 rs373636209 0.000byCluster missenseTTyr [Y]1590
contig referenceCHis [H]1590
287411141769 rs750188369 0.000 missenseGArg [R]2590
contig referenceAHis [H]2590
287411151770 rs183536507 0.002byClusterbyFreqWith1000GenomeData0.0018 missenseGGln [Q]3590
synonymousTHis [H]3590
contig referenceCHis [H]3590
287411161771 rs754159776 0.000byFreq missenseAArg [R]1591
contig referenceGGly [G]1591
287411181773 rs777022361 0.000byFreq synonymousGGly [G]3591
contig referenceAGly [G]3591
287411191774 rs779152665 0.000 nonsenseT1592
missenseGGlu [E]1592
contig referenceCGln [Q]1592
287411211776 rs1174248022 N.D. synonymousAGln [Q]3592
contig referenceGGln [Q]3592
287411221777 rs748621074 0.000byFreq synonymousCLeu [L]1593
contig referenceTLeu [L]1593
287411241779 rs1316639104 N.D. synonymousALeu [L]3593
contig referenceGLeu [L]3593
287411291784 rs1466362830 N.D. missenseTIle [I]2595
contig referenceCThr [T]2595
287411301785 rs762774152 0.000 frame shiftALys [K]3596
contig reference-Asn [N]3596
287411301785 rs772673207 0.000 synonymousTThr [T]3595
contig referenceCThr [T]3595
287411361791 rs778468404 0.000 synonymousCThr [T]3597
contig referenceTThr [T]3597
287411371792 rs200230947 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C