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SNP linked to Gene (geneID:57165) 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): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_020435.3plus strandNP_065168.2forwardNT_167186.2GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_167186.2NM_020435.3NP_065168.2forwardplus strand562, 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
228157759314 rs1180916108 N.D. missenseCLeu [L]11
contig referenceAMet [M]11
228157761316 rs1245048391 N.D. frame shiftCCCCPro [P]32
contig reference-Thr [T]32
228157761316 rs1418474769 N.D. missenseTIle [I]31
contig referenceGMet [M]31
228157778333 rs763868061 0.000 missenseAAsn [N]27
missenseTIle [I]27
contig referenceGSer [S]27
228157779334 rs774096549 0.000 synonymousTSer [S]37
contig referenceCSer [S]37
228157781336 rs1045331894 N.D. missenseCSer [S]28
contig referenceTPhe [F]28
228157782337 rs1407557539 N.D. synonymousTPhe [F]38
contig referenceCPhe [F]38
228157785340 rs761457231 0.000 synonymousCLeu [L]39
contig referenceGLeu [L]39
228157788343 rs767131250 0.000byFreq synonymousAThr [T]310
synonymousCThr [T]310
contig referenceGThr [T]310
228157789344 rs755524595 0.000 missenseTTrp [W]111
synonymousAArg [R]111
contig referenceCArg [R]111
228157790345 rs1034316227 N.D. missenseAGln [Q]211
contig referenceGArg [R]211
228157793348 rs765598965 0.000byFreq missenseCPro [P]212
contig referenceTLeu [L]212
228157794349 rs1313574511 N.D. synonymousALeu [L]312
contig referenceGLeu [L]312
228157803358 rs1357838753 N.D. missenseCAsp [D]315
contig referenceGGlu [E]315
228157809364 rs138357152 0.000byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTHis [H]317
contig referenceCHis [H]317
228157810365 rs1427095182 N.D. missenseCHis [H]118
contig referenceAAsn [N]118
228157813368 rs1312396102 N.D. missenseTTyr [Y]119
contig referenceCHis [H]119
228157814369 rs149590094 0.000byCluster YesmissenseGArg [R]219
contig referenceAHis [H]219
228157825380 rs1424515269 N.D. missenseTLeu [L]123
contig referenceGVal [V]123
228157826381 rs778022863 0.000 missenseCAla [A]223
contig referenceTVal [V]223
228157828383 rs1411304053 N.D. missenseCArg [R]124
contig referenceGGly [G]124
228157833388 rs1276332772 N.D. synonymousALys [K]325
contig referenceGLys [K]325
228157837392 rs757379065 0.000 (12bp) [RLTV]130
228157839394 rs1180319605 N.D. nonsenseA327
contig referenceGTrp [W]327
228157842397 rs747205319 0.000byFreq synonymousALeu [L]328
contig referenceCLeu [L]328
228157844399 rs757391283 0.000byFreq missenseTMet [M]229
contig referenceCThr [T]229
228157845400 rs781315856 0.000 synonymousAThr [T]329
contig referenceGThr [T]329
228157851406 rs745874268 0.000 synonymousTLeu [L]331
contig referenceGLeu [L]331
228157854409 rs769772220 0.000 synonymousAVal [V]332
synonymousTVal [V]332
contig referenceGVal [V]332
228157855410 rs1255433189 N.D. missenseAIle [I]133
contig referenceGVal [V]133
228157858413 rs1428888768 N.D. frame shift-Ser [S]134
contig referenceTPhe [F]134
228157860415 rs1170317766 N.D. synonymousTPhe [F]334
contig referenceCPhe [F]334
228157862417 rs779813765 0.000 missenseCPro [P]235
missenseTLeu [L]235
contig referenceGArg [R]235
228157867422 rs886783252 N.D. missenseAMet [M]137
contig referenceGVal [V]137
228157873428 rs1360991070 N.D. missenseGAla [A]139
contig referenceAThr [T]139
228157874429 rs1289121163 N.D. missenseTMet [M]239
contig referenceCThr [T]239
228157875430 rs768549431 0.000byFreq synonymousAThr [T]339
synonymousCThr [T]339
contig referenceGThr [T]339
228157876431 rs1302747902 N.D. missenseAThr [T]140
contig referenceGAla [A]140
228157878433 rs1287111516 N.D. synonymousCAla [A]340
contig referenceTAla [A]340
228157879434 rs376848686 0.000byCluster YesmissenseAMet [M]141
contig referenceGVal [V]141
228157884439 rs1437712143 N.D. synonymousTGly [G]342
contig referenceCGly [G]342
228157885440 rs761544365 0.000byFreq missenseASer [S]143
contig referenceGGly [G]143
228157886441 rs771567942 0.000 missenseAAsp [D]243
contig referenceGGly [G]243
228157888443 rs1038652462 N.D. nonsenseT144
contig referenceGGlu [E]144
228157890445 rs925073207 N.D. synonymousAGlu [E]344
contig referenceGGlu [E]344
228157892447 rs1227257677 N.D. missenseAAsp [D]245
missenseTVal [V]245
contig referenceCAla [A]245
228157893448 rs879788171 N.D. frame shiftATCTLeu [L]348
contig reference-Ser [S]348
228157897452 rs1280654307 N.D. missenseCHis [H]147
contig referenceTTyr [Y]147
228157902457 rs772784381 0.000byFreq synonymousASer [S]348
synonymousCSer [S]348
contig referenceGSer [S]348
228157905460 rs139992251 0.004byClusterbyFreqWith1000GenomeData0.0034 YessynonymousTAsp [D]349
contig referenceCAsp [D]349
228157906461 rs1255327063 N.D. nonsenseT150
missenseALys [K]150
contig referenceGGlu [E]150
228157908463 rs765799223 0.000 synonymousAGlu [E]350
contig referenceGGlu [E]350
228157912467 rs753125265 0.000 missenseAThr [T]152
contig referenceGAla [A]152
228157917472 rs763352571 0.000 synonymousALys [K]353
contig referenceGLys [K]353
228157922477 rs1028931597 N.D. missenseTIle [I]255
contig referenceCThr [T]255
228157923478 rs955563527 N.D. synonymousCThr [T]355
contig referenceTThr [T]355
228157926481 rs764441899 0.000byFreq synonymousTCys [C]356
contig referenceCCys [C]356
228157930485 rs751833711 0.000 missenseGAla [A]158
contig referenceAThr [T]158
228157931486 rs1198384277 N.D. missenseTMet [M]258
contig referenceCThr [T]258
228157932487 rs757481205 0.000byFreq synonymousAThr [T]358
synonymousTThr [T]358
contig referenceGThr [T]358
228157933488 rs146183345 0.000byClusterbyFreq YessynonymousAArg [R]159
contig referenceCArg [R]159
228157934489 rs866889643 N.D.byCluster missenseAGln [Q]259
contig referenceGArg [R]259
228157938493 rs371443995 0.000byClusterbyFreq YessynonymousAGln [Q]360
contig referenceGGln [Q]360
228157948503 rs780087866 0.000 missenseAAsn [N]164
contig referenceGAsp [D]164
228157954509 rs1229927569 N.D. missenseAIle [I]166
missenseTPhe [F]166
contig referenceGVal [V]166
228157961516 rs1031720654 N.D. missenseGCys [C]268
contig referenceATyr [Y]268
228157965520 rs749206259 0.000byFreq synonymousTAsp [D]369
contig referenceCAsp [D]369
228157968523 rs768631215 0.000byFreq synonymousAAla [A]370
contig referenceCAla [A]370
228157971526 rs1442145269 N.D. synonymousTPhe [F]371
contig referenceCPhe [F]371
228157973528 rs778864866 0.000 missenseTVal [V]272
contig referenceCAla [A]272
228157974529 rs747886769 0.000 synonymousTAla [A]372
contig referenceGAla [A]372
228157975530 rs1330596542 N.D. missenseAThr [T]173
contig referenceCPro [P]173
228157979534 rs1369352320 N.D. missenseCPro [P]274
contig referenceTLeu [L]274
228157980535 rs1216914064 N.D. synonymousCLeu [L]374
contig referenceGLeu [L]374
228157983538 rs1299994840 N.D. synonymousTSer [S]375
contig referenceGSer [S]375
228157987542 rs771789521 0.000 missenseCLeu [L]177
contig referenceGVal [V]177
228157992547 rs1260988756 N.D. synonymousTArg [R]378
contig referenceCArg [R]378
228157995550 rs956042430 N.D. synonymousTPhe [F]379
contig referenceCPhe [F]379
228157996551 rs1329157442 N.D. missenseCArg [R]180
contig referenceTTrp [W]180
228157999554 rs149908950 0.000byCluster YesmissenseAIle [I]181
contig referenceGVal [V]181
228158001556 rs1441556126 N.D. synonymousGVal [V]381
contig referenceCVal [V]381
228158004559 rs1266217255 N.D. synonymousTPhe [F]382
contig referenceCPhe [F]382
228158007562 rs772693492 0.000 synonymousAGln [Q]383
contig referenceGGln [Q]383
228158009564 rs373522338 0.000byClusterbyFreq YesmissenseCThr [T]284
contig referenceTIle [I]284
228158014569 rs770319458 0.000 missenseAIle [I]186
contig referenceGVal [V]186
228158015570 rs1477172177 N.D. missenseAAsp [D]286
contig referenceTVal [V]286
228158017572 rs776048044 0.000 missenseCLeu [L]187
contig referenceAIle [I]187
228158021576 rs1408852211 N.D. missenseGCys [C]288
contig referenceCSer [S]288
228158024579 rs763432220 0.000 missenseTMet [M]289
contig referenceCThr [T]289
228158025580 rs1157542857 N.D. synonymousAThr [T]389
contig referenceGThr [T]389
228158028583 rs12075149 0.005byCluster YessynonymousGPro [P]390
contig referenceCPro [P]390
228158029584 rs1325957958 N.D. missenseAThr [T]191
missenseGAla [A]191
contig referenceTSer [S]191
228158030585 rs1351190634 N.D. missenseTLeu [L]291
contig referenceCSer [S]291
228158031586 rs1287870663 N.D. synonymousASer [S]391
contig referenceGSer [S]391
228158034589 rs751923570 0.000 synonymousAVal [V]392
contig referenceCVal [V]392
228158036591 rs762040706 0.000 missenseCThr [T]293
contig referenceTMet [M]293
228158040595 rs767800245 0.000byFreq nonsenseG394
synonymousTTyr [Y]394
contig referenceCTyr [Y]394
228158041596 rs756257057 0.000byFreq missenseGVal [V]195
contig referenceCLeu [L]195
228158042597 rs1379732545 N.D. missenseCPro [P]295
contig referenceTLeu [L]295
228158043598 rs148764840 0.003byClusterbyFreqWith1000GenomeData0.0014 YessynonymousALeu [L]395
contig referenceGLeu [L]395
228158044599 rs1328468298 N.D. missenseCArg [R]196
contig referenceGGly [G]196
228158046601 rs1228619244 N.D. synonymousAGly [G]396
contig referenceCGly [G]396
228158048603 rs1291771448 N.D. missenseTPhe [F]297
contig referenceATyr [Y]297
228158049604 rs202209462 0.000byFreqWith1000GenomeData0.0002 YesnonsenseG397
synonymousTTyr [Y]397
contig referenceCTyr [Y]397
228158052607 rs1221144967 N.D. synonymousGAla [A]398
synonymousTAla [A]398
contig referenceCAla [A]398
228158053608 rs754971409 0.000byFreq missenseAMet [M]199
missenseCLeu [L]199
contig referenceGVal [V]199
228158054609 rs1484072426 N.D. missenseCAla [A]299
contig referenceTVal [V]299
228158057612 rs1180176300 N.D. missenseGArg [R]2100
contig referenceAHis [H]2100
228158058613 rs372240320 0.000byClusterbyFreq YesmissenseAGln [Q]3100
contig referenceCHis [H]3100
228158059614 rs747981305 0.000 missenseTCys [C]1101
contig referenceCArg [R]1101
228158060615 rs375288744 0.000byClusterbyFreq YesmissenseAHis [H]2101
missenseTLeu [L]2101
contig referenceGArg [R]2101
228158061616 rs147954793 0.000byCluster YessynonymousTArg [R]3101
contig referenceCArg [R]3101
228158066621 rs1405190338 N.D. frame shift-Val [V]2104
contig referenceCArg [R]2104
228158067622 rs746640254 0.000byFreq synonymousAAla [A]3103
contig referenceCAla [A]3103
228158068623 rs770536494 0.000byFreq missenseASer [S]1104
missenseTCys [C]1104
contig referenceCArg [R]1104
228158069624 rs368990340 0.000byCluster YesmissenseAHis [H]2104
contig referenceGArg [R]2104
228158072627 rs1305656844 N.D. missenseAGlu [E]2105
missenseTVal [V]2105
contig referenceCAla [A]2105
228158073628 rs1349728412 N.D. synonymousAAla [A]3105
synonymousTAla [A]3105
contig referenceGAla [A]3105
228158076631 rs574511063 0.000byFreqWith1000GenomeData0.0002 synonymousCSer [S]3106
contig referenceTSer [S]3106
228158079634 rs774788557 0.000 synonymousAGlu [E]3107
contig referenceGGlu [E]3107
228158082637 rs762284962 0.000byFreq missenseTHis [H]3108
synonymousAGln [Q]3108
contig referenceGGln [Q]3108
228158083638 rs1227595300 N.D. missenseALys [K]1109
contig referenceGGlu [E]1109
228158084639 rs767741277 0.000 missenseGGly [G]2109
contig referenceAGlu [E]2109
228158085640 rs1344595771 N.D. missenseCAsp [D]3109
contig referenceGGlu [E]3109
228158086641 rs1203025597 N.D. missenseGGly [G]1110
synonymousAArg [R]1110
contig referenceCArg [R]1110
228158087642 rs773550143 0.000 missenseAGln [Q]2110
contig referenceGArg [R]2110
228158089644 rs914561394 N.D. missenseTCys [C]1111
contig referenceCArg [R]1111
228158093648 rs760795118 0.000 missenseAHis [H]2112
missenseCPro [P]2112
contig referenceGArg [R]2112
228158094649 rs1236275566 N.D. synonymousTArg [R]3112
contig referenceCArg [R]3112
228158094649 rs1295375282 N.D. frame shift-Ala [A]3114
contig reference(25bp)Leu [L]3114
228158095650 rs1472672626 N.D. missenseCPro [P]1113
contig referenceGAla [A]1113
228158096651 rs1437124522 N.D. missenseTVal [V]2113
contig referenceCAla [A]2113
228158100655 rs967962569 N.D. synonymousTLeu [L]3114
contig referenceCLeu [L]3114
228158100655 rs1327129700 N.D. -3117
228158103658 rs980711822 N.D. synonymousGArg [R]3115
contig referenceCArg [R]3115
228158104659 rs766641843 0.000byFreq missenseTCys [C]1116
contig referenceCArg [R]1116
228158108663 rs1390344997 N.D. missenseTLeu [L]2117
contig referenceGArg [R]2117
228158109664 rs1404693266 N.D. synonymousTArg [R]3117
contig referenceCArg [R]3117
228158110665 rs754001499 0.000 missenseTSer [S]1118
contig referenceCPro [P]1118
228158112667 rs755057463 0.000 synonymousCPro [P]3118
contig referenceGPro [P]3118
228158119674 rs1429556501 N.D. missenseTCys [C]1121
contig referenceCArg [R]1121
228158121676 rs1166132864 N.D. synonymousGArg [R]3121
synonymousTArg [R]3121
contig referenceCArg [R]3121
228158122677 rs1171061411 N.D. missenseGGly [G]1122
contig referenceCArg [R]1122
228158123678 rs1369429339 N.D. missenseAHis [H]2122
contig referenceGArg [R]2122
228158125680 rs1414596108 N.D. missenseTSer [S]1123
contig referenceGAla [A]1123
228158126681 rs1336082527 N.D. missenseAGlu [E]2123
contig referenceCAla [A]2123
228158127682 rs1338685861 N.D. synonymousTAla [A]3123
contig referenceGAla [A]3123
228158128683 rs1242199759 N.D. missenseTSer [S]1124
contig referenceCPro [P]1124
228158131686 rs543481065 0.000With1000GenomeData0.0002 nonsenseT1125
missenseGGly [G]1125
contig referenceCArg [R]1125
228158134689 rs1422736170 N.D. frame shift(19bp)Pro [P]1134
contig reference-Gly [G]1134
228158145700 rs926484786 N.D. synonymousAPro [P]3129
contig referenceGPro [P]3129
228158145700 rs1211122898 N.D. frame shiftCAla [A]3132
contig reference-His [H]3132
228158146701 rs1446939686 N.D. missenseGAla [A]1130
missenseTSer [S]1130
contig referenceCPro [P]1130
228158146701 rs1482616859 N.D. frame shift-Arg [R]1131
contig referenceCPro [P]1131
228158148703 rs1230521109 N.D. synonymousTPro [P]3130
contig referenceCPro [P]3130
228158150705 rs1298064694 N.D. missenseAGln [Q]2131
missenseTLeu [L]2131
contig referenceCPro [P]2131
228158157712 rs1283512328 N.D. synonymousTAla [A]3133
contig referenceCAla [A]3133
228158158713 rs1367568012 N.D. missenseASer [S]1134
contig referenceGGly [G]1134
228158165720 rs1342309754 N.D. missenseGArg [R]2136
contig referenceCPro [P]2136
228158166721 rs1226490782 N.D. synonymousCPro [P]3136
contig referenceTPro [P]3136
228158173728 rs1409390797 N.D. missenseCPro [P]1139
contig referenceGAla [A]1139
228158176731 rs563631405 0.000With1000GenomeData0.0002 missenseAAsn [N]1140
contig referenceGAsp [D]1140
228158178733 rs779077705 0.000 -3146
228158181736 rs1277104384 N.D. synonymousTLeu [L]3141
contig referenceGLeu [L]3141
228158188743 rs1442365055 N.D. -1146
228158192747 rs1250327843 N.D. missenseTVal [V]2145
contig referenceAGlu [E]2145
228158193748 rs1406510182 N.D. synonymousAGlu [E]3145
contig referenceGGlu [E]3145
228158197752 rs1450895325 N.D. missenseGVal [V]1147
contig referenceAMet [M]1147
228158198753 rs908269724 N.D. missenseCThr [T]2147
contig referenceTMet [M]2147
228158199754 rs1471548535 N.D. missenseCIle [I]3147
contig referenceGMet [M]3147
228158200755 rs1389215352 N.D. missenseAMet [M]1148
contig referenceCLeu [L]1148
228158202757 rs1419323450 N.D. synonymousALeu [L]3148
contig referenceGLeu [L]3148
228158202757 rs1478059825 N.D. frame shift(11bp)Ala [A]3153
contig reference-Glu [E]3153
228158203758 rs577325764 0.003With1000GenomeData0.0046 missenseASer [S]1149
contig referenceGGly [G]1149
228158210765 rs752648245 0.000 missenseCAla [A]2151
missenseTVal [V]2151
contig referenceGGly [G]2151
228158211766 rs758276637 N.D. synonymousGGly [G]3151
contig referenceCGly [G]3151
228158211766 rs1038068935 N.D. (9bp) [EEE]3158
GAGGlu [E]3158
GAGGAG [EE]3158
228158212767 rs746050475 0.324byFreq -1158
228158212767 rs777412686 0.000 missenseALys [K]1152
contig referenceGGlu [E]1152
228158212767 rs1207963518 N.D. -1157
228158218773 rs1320920584 N.D. missenseALys [K]1154
contig referenceGGlu [E]1154
228158220775 rs898143170 N.D. synonymousAGlu [E]3154
contig referenceGGlu [E]3154
228158223778 rs1432682437 N.D. missenseTAsp [D]3155
contig referenceGGlu [E]3155
228158227782 rs746765580 0.000 missenseCGln [Q]1157
contig referenceGGlu [E]1157
228158228783 rs1331958283 N.D. frame shift(19bp)Asp [D]2165
contig reference-Ala [A]2165
228158234789 rs756868228 0.000byFreq missenseTMet [M]2159
contig referenceCThr [T]2159
228158234789 rs1228021374 N.D. frame shiftGGly [G]2161
contig reference-Ala [A]2161
228158235790 rs780785721 0.000 synonymousCThr [T]3159
synonymousTThr [T]3159
contig referenceGThr [T]3159
228158237792 rs1344879825 N.D. missenseAGlu [E]2160
contig referenceGGly [G]2160
228158238793 rs1209932787 N.D. synonymousAGly [G]3160
contig referenceGGly [G]3160
228158240795 rs1270633258 N.D. missenseAGlu [E]2161
contig referenceCAla [A]2161
228158242797 rs1463803457 N.D. missenseAThr [T]1162
contig referenceGAla [A]1162
228158243798 rs1208554088 N.D. missenseTVal [V]2162
contig referenceCAla [A]2162
228158244799 rs1260532478 N.D. synonymousGAla [A]3162
synonymousTAla [A]3162
contig referenceCAla [A]3162
228158245800 rs1407535649 N.D. missenseALys [K]1163
contig referenceGGlu [E]1163
228158250805 rs745407861 0.000 synonymousTGly [G]3164
contig referenceCGly [G]3164
228158251806 rs1200320206 N.D. missenseAThr [T]1165
missenseTSer [S]1165
contig referenceGAla [A]1165
228158254809 rs997544625 N.D. missenseASer [S]1166
contig referenceGGly [G]1166
228158255810 rs1479851402 N.D. missenseAAsp [D]2166
contig referenceGGly [G]2166
228158262817 rs1159773438 N.D. (15bp) [GAEEA]3177
228158263818 rs769273788 0.000 missenseCPro [P]1169
contig referenceGAla [A]1169
228158265820 rs1455432608 N.D. synonymousAAla [A]3169
contig referenceGAla [A]3169
228158268823 rs1319661137 N.D. synonymousAGlu [E]3170
contig referenceGGlu [E]3170
228158270825 rs546069072 0.001byFreqWith1000GenomeData0.0002 missenseCAla [A]2171
contig referenceAGlu [E]2171
228158275830 rs748600077 0.000 missenseCArg [R]1173
contig referenceGGly [G]1173
228158276831 rs1321620884 N.D. missenseAAsp [D]2173
missenseTVal [V]2173
contig referenceGGly [G]2173
228158277832 rs772545343 0.000 synonymousAGly [G]3173
synonymousTGly [G]3173
contig referenceCGly [G]3173
228158280835 rs1229136727 N.D. synonymousAAla [A]3174
contig referenceGAla [A]3174
228158284839 rs773453663 0.000 missenseALys [K]1176
contig referenceGGlu [E]1176
228158286841 rs201796910 0.007byClusterbyFreqWith1000GenomeData0.0034 synonymousAGlu [E]3176
contig referenceGGlu [E]3176
228158287842 rs1327712975 N.D. missenseCPro [P]1177
contig referenceGAla [A]1177
228158288843 rs766729380 0.000 missenseTVal [V]2177
contig referenceCAla [A]2177
228158289844 rs776968941 0.000 synonymousAAla [A]3177
contig referenceGAla [A]3177
228158290845 rs1488573688 N.D. missenseASer [S]1178
contig referenceTCys [C]1178
228158294849 rs1273907609 N.D. missenseTIle [I]2179
contig referenceCThr [T]2179
228158295850 rs1211238352 N.D. frame shiftAGly [G]3181
contig reference-Ala [A]3181
228158298853 rs759727327 0.000 synonymousALys [K]3180
contig referenceGLys [K]3180
228158299854 rs1327160655 N.D. missenseCPro [P]1181
contig referenceGAla [A]1181
228158301856 rs765400775 0.000byFreq synonymousAAla [A]3181
synonymousTAla [A]3181
contig referenceGAla [A]3181
228158303858 rs758571008 0.000byFreq (21bp) [cds-indel]2190
228158303858 rs1367380533 N.D. missenseCAla [A]2182
contig referenceTVal [V]2182
228158305860 rs752735069 0.000byFreq missenseASer [S]1183
contig referenceGGly [G]1183
228158308863 rs758277909 0.000 missenseAThr [T]1184
missenseTSer [S]1184
contig referenceGAla [A]1184
228158313868 rs1372431737 N.D. synonymousTAsp [D]3185
contig referenceCAsp [D]3185
228158314869 rs201277546 0.004byClusterbyFreq YesmissenseASer [S]1186
missenseCArg [R]1186
missenseTCys [C]1186
contig referenceGGly [G]1186
228158315870 rs1368857070 N.D. missenseAAsp [D]2186
contig referenceGGly [G]2186
228158316871 rs1459296673 N.D. synonymousAGly [G]3186
contig referenceCGly [G]3186
228158319874 rs1161650965 N.D. synonymousALys [K]3187
contig referenceGLys [K]3187
228158320875 rs201029551 0.000byClusterWith1000GenomeData0.0002 YesmissenseAThr [T]1188
contig referenceGAla [A]1188
228158327882 rs1410446133 N.D. missenseAGlu [E]2190
contig referenceGGly [G]2190
228158331886 rs1309937150 N.D. synonymousTThr [T]3191
contig referenceCThr [T]3191
228158333888 rs375318012 0.007byClusterbyFreq YesmissenseGArg [R]2192
contig referenceCPro [P]2192
228158334889 rs995455645 N.D.byCluster -3193
228158334889 rs1349126699 N.D. synonymousAPro [P]3192
synonymousCPro [P]3192
contig referenceGPro [P]3192
228158335890 rs1424210656 N.D. missenseTCys [C]1193
contig referenceGGly [G]1193
228158336891 rs1157990603 N.D. missenseTVal [V]2193
contig referenceGGly [G]2193
228158337892 rs750048794 0.000 synonymousTGly [G]3193
contig referenceCGly [G]3193
228158338893 rs1314124368 N.D. missenseGAla [A]1194
missenseTSer [S]1194
contig referenceCPro [P]1194
228158343898 rs755689351 0.000 synonymousTThr [T]3195
contig referenceCThr [T]3195
228158344899 rs779527369 0.000 missenseAArg [R]1196
contig referenceGGly [G]1196
228158347902 rs1455411788 N.D. frame shiftAThr [T]1198
contig reference-His [H]1198
228158349904 rs1021620933 N.D. synonymousGGln [Q]3197
contig referenceAGln [Q]3197
228158350905 rs1243155403 N.D. missenseTTyr [Y]1198
contig referenceCHis [H]1198
228158352907 rs116557768 0.123byClusterbyFreqWith1000GenomeData0.0160 YessynonymousTHis [H]3198
contig referenceCHis [H]3198
228158353908 rs772486962 0.000 missenseAAsn [N]1199
missenseTTyr [Y]1199
contig referenceGAsp [D]1199
228158355910 rs778292115 0.000byFreq synonymousCAsp [D]3199
contig referenceTAsp [D]3199
228158357912 rs747380067 0.000 missenseAGlu [E]2200
contig referenceGGly [G]2200
228158358913 rs1463640924 N.D. synonymousAGly [G]3200
contig referenceGGly [G]3200
228158360915 rs1482005574 N.D. missenseAGln [Q]2201
contig referenceGArg [R]2201
228158363918 rs771389179 0.000 missenseALys [K]2202
contig referenceGArg [R]2202
228158365920 rs777056926 0.000 missenseTCys [C]1203
contig referenceCArg [R]1203
228158366921 rs759815259 0.000byClusterbyFreq missenseAHis [H]2203
missenseCPro [P]2203
contig referenceGArg [R]2203
228158370925 rs1185224141 N.D. synonymousTIle [I]3204
contig referenceCIle [I]3204
228158372927 rs1311762427 N.D. missenseGArg [R]2205
contig referenceAGln [Q]2205
228158375930 rs775441848 0.000 missenseAGln [Q]2206
missenseTLeu [L]2206
contig referenceGArg [R]2206
228158379934 rs763051963 0.000 synonymousAGlu [E]3207
contig referenceGGlu [E]3207
228158389944 rs763964322 0.000 missenseTCys [C]1211
contig referenceCArg [R]1211
228158391946 rs981105825 N.D. synonymousTArg [R]3211
contig referenceCArg [R]3211
228158392947 rs1368753982 N.D. missenseTLeu [L]1212
contig referenceGVal [V]1212
228158402957 rs1461589558 N.D. missenseTVal [V]2215
contig referenceCAla [A]2215
228158403958 rs1303923583 N.D. synonymousTAla [A]3215
contig referenceCAla [A]3215
228158407962 rs147024647 0.000byCluster YessynonymousTLeu [L]1217
contig referenceCLeu [L]1217
228158409964 rs761638814 0.000 synonymousALeu [L]3217
contig referenceGLeu [L]3217
228158412967 rs1312476615 N.D. synonymousAVal [V]3218
contig referenceGVal [V]3218
228158419974 rs767296387 0.000 missenseTSer [S]1221
contig referenceGAla [A]1221
228158423978 rs1297574268 N.D. missenseTVal [V]2222
contig referenceCAla [A]2222
228158424979 rs750135208 0.000 synonymousCAla [A]3222
contig referenceTAla [A]3222
228158427982 rs755777289 0.000 synonymousTPhe [F]3223
contig referenceCPhe [F]3223
228158428983 rs779717054 0.000 missenseALys [K]1224
contig referenceGGlu [E]1224
228158430985 rs1203275018 N.D. synonymousAGlu [E]3224
contig referenceGGlu [E]3224
228158436991 rs753309235 0.000 synonymousTAla [A]3226
contig referenceCAla [A]3226
2281584551010 rs1359291468 N.D. missenseGVal [V]1233
contig referenceCLeu [L]1233
2281584621017 rs1484204802 N.D. missenseGCys [C]2235
contig referenceATyr [Y]2235
2281584631018 rs754488745 0.000byFreq synonymousTTyr [Y]3235
contig referenceCTyr [Y]3235
2281584701025 rs778181207 0.000byFreq missenseALys [K]1238
contig referenceGGlu [E]1238
2281584741029 rs375623977 0.000byClusterbyFreq YesmissenseCAla [A]2239
contig referenceTVal [V]2239
2281584771032 rs1431031048 N.D. missenseCPro [P]2240
contig referenceGArg [R]2240
2281584791034 rs1190733472 N.D. missenseTSer [S]1241
contig referenceCPro [P]1241
2281584801035 rs1173514293 N.D. missenseTLeu [L]2241
contig referenceCPro [P]2241
2281584821037 rs780983092 0.000 frame shiftTCSer [S]1243
contig reference-Phe [F]1243
2281584841039 rs1358564050 N.D. missenseALeu [L]3242
contig referenceCPhe [F]3242
2281584871042 rs771477313 0.000 synonymousCPhe [F]3243
contig referenceTPhe [F]3243
2281584881043 rs781697706 0.000 missenseGAla [A]1244
contig referenceCPro [P]1244
2281584891044 rs1436403763 N.D. missenseTLeu [L]2244
contig referenceCPro [P]2244
2281584901045 rs746163968 0.000 synonymousTPro [P]3244
contig referenceCPro [P]3244
2281584931048 rs560832360 0.000With1000GenomeData0.0002 synonymousTCys [C]3245
contig referenceCCys [C]3245
2281584991054 rs770175380 0.000 synonymousGArg [R]3247
contig referenceCArg [R]3247
2281585001055 rs1389799347 N.D. nonsenseT1248
contig referenceCGln [Q]1248
2281585031058 rs775735957 0.000 missenseTSer [S]1249
contig referenceCPro [P]1249
2281585051060 rs926523102 N.D. synonymousGPro [P]3249
contig referenceCPro [P]3249
2281585081063 rs1359509994 N.D. missenseGTrp [W]3250
synonymousTCys [C]3250
contig referenceCCys [C]3250
2281585221077 rs762995507 0.000 missenseGGly [G]2255
contig referenceAAsp [D]2255
2281585231078 rs768752998 0.000 missenseGGlu [E]3255
contig referenceCAsp [D]3255
2281585251080 rs1301392759 N.D. missenseTPhe [F]2256
contig referenceGCys [C]2256
2281585291084 rs1421753317 N.D. synonymousTPhe [F]3257
contig referenceCPhe [F]3257
2281585341089 rs866103758 N.D.byCluster nonsenseA2259
missenseTLeu [L]2259
contig referenceCSer [S]2259
2281585351090 rs529717425 0.000With1000GenomeData0.0002 synonymousASer [S]3259
contig referenceGSer [S]3259
2281585381093 rs549807766 0.000With1000GenomeData0.0002 synonymousTArg [R]3260
contig referenceCArg [R]3260
2281585421097 rs761726866 0.000byFreq missenseGAla [A]1262
missenseTSer [S]1262
contig referenceAThr [T]1262
2281585441099 rs1210433237 N.D. synonymousCThr [T]3262
contig referenceTThr [T]3262
2281585521107 rs767386031 0.000 missenseTMet [M]2265
contig referenceCThr [T]2265
2281585531108 rs1485673013 N.D. synonymousAThr [T]3265
contig referenceGThr [T]3265
2281585541109 rs1486216355 N.D. missenseAIle [I]1266
contig referenceGVal [V]1266
2281585561111 rs1191792911 N.D. synonymousTVal [V]3266
contig referenceCVal [V]3266
2281585601115 rs138851189 0.000byClusterbyFreq YessynonymousTLeu [L]1268
contig referenceCLeu [L]1268
2281585641119 rs747898753 0.000 -2270
2281585661121 rs1176304388 N.D. missenseAIle [I]1270
missenseCLeu [L]1270
contig referenceGVal [V]1270
2281585681123 rs760412672 0.000byFreq synonymousGVal [V]3270
contig referenceTVal [V]3270
2281585751130 rs374172867 N.D. YesmissenseCLeu [L]1273
contig referenceGVal [V]1273
2281585851140 rs1214716734 N.D. missenseATyr [Y]2276
contig referenceGCys [C]2276
2281585861141 rs765995775 0.000byFreq synonymousTCys [C]3276
contig referenceCCys [C]3276
2281585901145 rs1343027441 N.D. missenseGGly [G]1278
contig referenceTCys [C]1278
2281585911146 rs1429632560 N.D. missenseATyr [Y]2278
contig referenceGCys [C]2278
2281585941149 rs753495849 0.000 missenseCPro [P]2279
contig referenceTLeu [L]2279
2281585951150 rs754510168 0.000byFreq synonymousALeu [L]3279
synonymousCLeu [L]3279
contig referenceGLeu [L]3279
2281585971152 rs1377773711 N.D. frame shiftGAla [A]2281
contig reference-Leu [L]2281
2281585991154 rs1221218198 N.D. missenseTPhe [F]1281
contig referenceCLeu [L]1281
2281586011156 rs1282557468 N.D. synonymousTLeu [L]3281
contig referenceCLeu [L]3281
2281586131168 rs752192691 0.000 synonymousAGlu [E]3285
contig referenceGGlu [E]3285
2281586221177 rs757840037 0.000 synonymousTHis [H]3288
contig referenceCHis [H]3288
2281586241179 rs1316515245 N.D. missenseCPro [P]2289
contig referenceTLeu [L]2289
2281586311186 rs781753046 0.000 synonymousALeu [L]3291
contig referenceGLeu [L]3291
2281586371192 rs868063664 N.D.byCluster missenseAArg [R]3293
missenseGArg [R]3293
synonymousTSer [S]3293
contig referenceCSer [S]3293
2281586411196 rs1375875748 N.D. missenseGGlu [E]1295
contig referenceCGln [Q]1295
2281586441199 rs1248721107 N.D. missenseTTyr [Y]1296
contig referenceGAsp [D]1296
2281586471202 rs1487537853 N.D. missenseCPro [P]1297
contig referenceGAla [A]1297
2281586481203 rs1427562172 N.D. missenseTVal [V]2297
contig referenceCAla [A]2297
2281586491204 rs1198870647 N.D. synonymousTAla [A]3297
contig referenceGAla [A]3297
2281586521207 rs1253078766 N.D. synonymousAVal [V]3298
contig referenceGVal [V]3298
2281586551210 rs1473863485 N.D. synonymousAArg [R]3299
synonymousTArg [R]3299
contig referenceCArg [R]3299
2281586561211 rs746260453 0.000byFreq missenseASer [S]1300
missenseTCys [C]1300
contig referenceGGly [G]1300
2281586571212 rs1171019592 N.D. missenseCAla [A]2300
contig referenceGGly [G]2300
2281586581213 rs569642429 0.000With1000GenomeData0.0002 synonymousAGly [G]3300
contig referenceCGly [G]3300
2281586601215 rs780182493 0.000byFreq missenseCPro [P]2301
contig referenceGArg [R]2301
2281586601215 rs1423370842 N.D. frame shift(17bp)Ala [A]2309
contig reference-Pro [P]2309
2281586641219 rs749522785 0.000 synonymousTArg [R]3302
contig referenceCArg [R]3302
2281586661221 rs1217895288 N.D. frame shiftCGly [G]2306
contig reference-Ala [A]2306
2281586671222 rs768677890 0.000 synonymousAGly [G]3303
synonymousTGly [G]3303
contig referenceCGly [G]3303
2281586671222 rs973813602 N.D. frame shift-Arg [R]3305
contig referenceCPro [P]3305
2281586691224 rs774503054 0.000 missenseAHis [H]2304
contig referenceCPro [P]2304
2281586701225 rs1475619773 N.D. synonymousGPro [P]3304
contig referenceCPro [P]3304
2281586711226 rs748160078 0.000 missenseTSer [S]1305
contig referenceCPro [P]1305
2281586721227 rs772019241 0.000byFreq missenseAGln [Q]2305
missenseTLeu [L]2305
contig referenceCPro [P]2305
2281586771232 rs1203523216 N.D. CCGCCC [AP]1313
2281586781233 rs1481822286 N.D. -2312
2281586791234 rs1302004233 N.D. synonymousASer [S]3307
synonymousGSer [S]3307
synonymousTSer [S]3307
contig referenceCSer [S]3307
2281586801235 rs1320620289 N.D. frame shift-Leu [L]1311
contig reference(20bp)Pro [P]1311
2281586801235 rs1350981399 N.D. missenseAThr [T]1308
contig referenceGAla [A]1308
2281586811236 rs1411618748 N.D. missenseAAsp [D]2308
missenseTVal [V]2308
contig referenceCAla [A]2308
2281586851240 rs1277742491 N.D. synonymousAPro [P]3309
synonymousTPro [P]3309
contig referenceCPro [P]3309
2281586871242 rs1355756089 N.D. missenseTVal [V]2310
contig referenceCAla [A]2310
2281586931248 rs1308645569 N.D. missenseTVal [V]2312
contig referenceCAla [A]2312
2281586941249 rs1372313281 N.D. synonymousCAla [A]3312
contig referenceGAla [A]3312
2281586981253 rs1228728558 N.D. missenseTTrp [W]1314
contig referenceCArg [R]1314
2281586991254 rs1292283533 N.D. missenseAGln [Q]2314
contig referenceGArg [R]2314
2281587001255 rs1357554040 N.D. synonymousTArg [R]3314
contig referenceGArg [R]3314
2281587011256 rs773110812 0.000 missenseAThr [T]1315
missenseGAla [A]1315
contig referenceCPro [P]1315
2281587031258 rs1389498649 N.D. synonymousAPro [P]3315
contig referenceCPro [P]3315
2281587041259 rs1275487012 N.D. missenseGAla [A]1316
contig referenceCPro [P]1316
2281587051260 rs760502262 0.003byCluster missenseAGln [Q]2316
missenseTLeu [L]2316
contig referenceCPro [P]2316
2281587121267 rs1250181465 N.D. synonymousTCys [C]3318
contig referenceCCys [C]3318
2281587131268 rs1457307938 N.D. missenseAThr [T]1319
contig referenceGAla [A]1319
2281587141269 rs1180625150 N.D. missenseTVal [V]2319
contig referenceCAla [A]2319
2281587151270 rs12755822 N.D. synonymousTAla [A]3319
contig referenceCAla [A]3319
2281587181273 rs1232871344 N.D. synonymousTPhe [F]3320
contig referenceCPhe [F]3320
2281587191274 rs766191149 0.001 missenseTSer [S]1321
contig referenceCPro [P]1321
2281587201275 rs1167123940 N.D. missenseGArg [R]2321
contig referenceCPro [P]2321
2281587221277 rs1183971182 N.D. missenseCPro [P]1322
contig referenceGAla [A]1322
2281587231278 rs944199616 N.D. missenseAGlu [E]2322
contig referenceCAla [A]2322
2281587241279 rs4653910 0.160byClusterbyFreqwith2hitWith1000GenomeData synonymousAAla [A]3322
synonymousCAla [A]3322
contig referenceGAla [A]3322
2281587261281 rs1422386054 N.D. missenseGGly [G]2323
missenseTVal [V]2323
contig referenceCAla [A]2323
2281587271282 rs1162333550 N.D. synonymousAAla [A]3323
contig referenceGAla [A]3323
2281587301285 rs1370603269 N.D. synonymousTAla [A]3324
contig referenceCAla [A]3324
2281587311286 rs1431154048 N.D. missenseAThr [T]1325
contig referenceGAla [A]1325
2281587341289 rs1326752366 N.D. missenseASer [S]1326
contig referenceGGly [G]1326
2281587381293 rs891354098 N.D. nonsenseA2327
contig referenceTLeu [L]2327
2281587391294 rs944216643 N.D. missenseTPhe [F]3327
synonymousALeu [L]3327
contig referenceGLeu [L]3327
2281587411296 rs1448395659 N.D. missenseTVal [V]2328
contig referenceCAla [A]2328
2281587421297 rs1053240385 N.D. synonymousTAla [A]3328
contig referenceCAla [A]3328
2281587451300 rs1285742290 N.D. synonymousTCys [C]3329
contig referenceCCys [C]3329
2281587471302 rs759236425 0.000 missenseAGln [Q]2330
missenseTLeu [L]2330
contig referenceCPro [P]2330
2281587481303 rs1245483584 N.D. synonymousCPro [P]3330
synonymousTPro [P]3330
contig referenceGPro [P]3330
2281587501305 rs1275579290 N.D. missenseGArg [R]2331
contig referenceCPro [P]2331
2281587511306 rs891962078 N.D. synonymousGPro [P]3331
contig referenceCPro [P]3331
2281587571312 rs1334884426 N.D. synonymousTTyr [Y]3333
contig referenceCTyr [Y]3333
2281587581313 rs1267152789 N.D. missenseCArg [R]1334
contig referenceASer [S]1334
2281587661321 rs1344393691 N.D. synonymousTVal [V]3336
contig referenceGVal [V]3336
2281587671322 rs1194224756 N.D. missenseTLeu [L]1337
contig referenceGVal [V]1337
2281587681323 rs1272842019 N.D. missenseCAla [A]2337
contig referenceTVal [V]2337
2281587711326 rs1011652150 N.D. missenseAGln [Q]2338
missenseCPro [P]2338
contig referenceGArg [R]2338
2281587731328 rs764726704 0.001byFreq missenseAThr [T]1339
contig referenceGAla [A]1339
2281587741329 rs1241719257 N.D. missenseGGly [G]2339
contig referenceCAla [A]2339
2281587751330 rs1444446068 N.D. synonymousAAla [A]3339
synonymousCAla [A]3339
contig referenceGAla [A]3339
2281587761331 rs1182571616 N.D. missenseAThr [T]1340
contig referenceGAla [A]1340
2281587771332 rs752282539 0.001byFreq missenseTVal [V]2340
contig referenceCAla [A]2340
2281587781333 rs1450786228 N.D. synonymousAAla [A]3340
contig referenceCAla [A]3340
2281587791334 rs1165653380 N.D. nonsenseT1341
contig referenceGGlu [E]1341
2281587811336 rs1395608617 N.D. missenseCAsp [D]3341
synonymousAGlu [E]3341
contig referenceGGlu [E]3341
2281587821337 rs1441788537 N.D. missenseASer [S]1342
contig referenceCArg [R]1342
2281587851340 rs1021631118 N.D. missenseTSer [S]1343
contig referenceGAla [A]1343
2281587861341 rs1157071248 N.D. missenseTVal [V]2343
contig referenceCAla [A]2343
2281587881343 rs866410655 N.D. missenseTTrp [W]1344
contig referenceCArg [R]1344
2281587921347 rs1336139614 N.D. missenseAGlu [E]2345
contig referenceCAla [A]2345
2281587931348 rs532281251 0.000With1000GenomeData0.0002 synonymousAAla [A]3345
synonymousCAla [A]3345
contig referenceGAla [A]3345
2281587951350 rs1368561337 N.D. missenseTLeu [L]2346
contig referenceAHis [H]2346
2281587961351 rs559021726 N.D.byCluster missenseAGln [Q]3346
contig referenceTHis [H]3346
2281588011356 rs1452954662 N.D. missenseGArg [R]2348
contig referenceAGln [Q]2348
2281588071362 rs1321469837 N.D. missenseCPro [P]2350
contig referenceTLeu [L]2350
2281588081363 rs757938017 0.000 synonymousCLeu [L]3350
contig referenceGLeu [L]3350
2281588091364 rs1225263500 N.D. missenseAThr [T]1351
contig referenceGAla [A]1351
2281588101365 rs1269696079 N.D. missenseAGlu [E]2351
contig referenceCAla [A]2351
2281588131368 rs768190679 0.000byFreq missenseGSer [S]2352
missenseTIle [I]2352
contig referenceAAsn [N]2352
2281588151370 rs750932850 0.001byFreq synonymousTLeu [L]1353
contig referenceCLeu [L]1353
2281588161371 rs905863745 N.D. missenseCPro [P]2353
contig referenceTLeu [L]2353
2281588241379 rs146841026 0.000With1000GenomeData0.0002 missenseALys [K]1356
contig referenceCGln [Q]1356
2281588251380 rs780455792 0.000 missenseGArg [R]2356
contig referenceAGln [Q]2356
2281588261381 rs1468554294 N.D. missenseCHis [H]3356
contig referenceGGln [Q]3356
2281588271382 rs1001521316 N.D. missenseAThr [T]1357
contig referenceGAla [A]1357
2281588301385 rs1203009987 N.D. synonymousTLeu [L]1358
contig referenceCLeu [L]1358
2281588341389 rs867048149 N.D.byCluster missenseTLeu [L]2359
contig referenceGArg [R]2359
2281588351390 rs1248186114 N.D. synonymousTArg [R]3359
contig referenceCArg [R]3359
2281588381393 rs1034028676 N.D. synonymousTAsp [D]3360
contig referenceCAsp [D]3360
2281588391394 rs1190330580 N.D. missenseAArg [R]1361
contig referenceGGly [G]1361
2281588401395 rs1372028650 N.D. missenseTVal [V]2361
contig referenceGGly [G]2361
2281588421397 rs565574386 0.004byFreqWith1000GenomeData0.0008 missenseAThr [T]1362
contig referenceGAla [A]1362
2281588441399 rs1174237782 N.D. synonymousCAla [A]3362
synonymousTAla [A]3362
contig referenceAAla [A]3362
2281588451400 rs1427200909 N.D. missenseAThr [T]1363
missenseTSer [S]1363
contig referenceGAla [A]1363
2281588461401 rs1469042630 N.D. missenseTVal [V]2363
contig referenceCAla [A]2363
2281588481403 rs534573391 0.005byFreqWith1000GenomeData0.0020 missenseAThr [T]1364
contig referenceGAla [A]1364
2281588501405 rs1305601485 N.D. synonymousAAla [A]3364
contig referenceTAla [A]3364
2281588511406 rs1391047082 N.D. frame shift-Thr [T]1366
contig referenceGAsp [D]1366
2281588511406 rs1434548378 N.D. missenseCArg [R]1365
contig referenceGGly [G]1365
2281588571412 rs1380775420 N.D. missenseASer [S]1367
contig referenceCArg [R]1367
2281588581413 rs1317955145 N.D. missenseAHis [H]2367
contig referenceGArg [R]2367
2281588601415 rs779067650 0.000 missenseAAsn [N]1368
missenseTTyr [Y]1368
contig referenceGAsp [D]1368
2281588631418 rs748274865 0.000 missenseGGly [G]1369
missenseTTrp [W]1369
synonymousAArg [R]1369
contig referenceCArg [R]1369
2281588641419 rs992055404 N.D. missenseAGln [Q]2369
contig referenceGArg [R]2369
2281588651420 rs1281923209 N.D. synonymousCArg [R]3369
contig referenceGArg [R]3369
2281588661421 rs1323454398 N.D. missenseAAsn [N]1370
contig referenceGAsp [D]1370
2281588691424 rs1229329870 N.D. missenseTCys [C]1371
contig referenceASer [S]1371
2281588701425 rs1386028115 N.D. missenseCThr [T]2371
contig referenceGSer [S]2371
2281588721427 rs772107463 0.000 missenseGAla [A]1372
contig referenceTSer [S]1372
2281588731428 rs1352336450 N.D. missenseGTrp [W]2372
contig referenceCSer [S]2372
2281588781433 rs1202985537 N.D. missenseCArg [R]1374
contig referenceTCys [C]1374
2281588791434 rs1433300749 N.D. missenseCSer [S]2374
missenseTPhe [F]2374
contig referenceGCys [C]2374
2281588801435 rs1231016061 N.D. synonymousTCys [C]3374
contig referenceCCys [C]3374
2281588811436 rs554468010 0.000With1000GenomeData0.0002 missenseAIle [I]1375
missenseCLeu [L]1375
contig referenceGVal [V]1375
2281588831438 rs1451673161 N.D. synonymousTVal [V]3375
contig referenceCVal [V]3375
2281588841439 rs1200967769 N.D. missenseASer [S]1376
contig referenceGGly [G]1376
2281588861441 rs1266616845 N.D. synonymousTGly [G]3376
contig referenceCGly [G]3376
2281588881443 rs773198692 0.000byFreq missenseAHis [H]2377
contig referenceTLeu [L]2377
2281588901445 rs1341997250 N.D. missenseTSer [S]1378
contig referenceCPro [P]1378
2281588911446 rs746949606 0.000byFreq missenseTLeu [L]2378
contig referenceCPro [P]2378
2281588921447 rs1365293839 N.D. synonymousAPro [P]3378
contig referenceTPro [P]3378
2281588931448 rs1449321238 N.D. missenseAThr [T]1379
contig referenceGAla [A]1379
2281588941449 rs1451419030 N.D. missenseAGlu [E]2379
missenseTVal [V]2379
contig referenceCAla [A]2379
2281588951450 rs770713772 0.000byFreq synonymousAAla [A]3379
contig referenceGAla [A]3379
2281589001455 rs1289964057 N.D. missenseGCys [C]2381
contig referenceCSer [S]2381
2281589021457 rs776485630 0.000 missenseTTrp [W]1382
contig referenceCArg [R]1382
2281589071462 rs759208216 0.000byFreq synonymousCGly [G]3383
contig referenceGGly [G]3383
2281589081463 rs535282333 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseGAla [A]1384
missenseTSer [S]1384
contig referenceCPro [P]1384
2281589081463 rs1196278287 N.D. frame shift-Glu [E]1386
contig referenceCArg [R]1386
2281589091464 rs775264492 0.001byFreq missenseAHis [H]2384
missenseGArg [R]2384
missenseTLeu [L]2384
contig referenceCPro [P]2384
2281589101465 rs1341305037 N.D. synonymousTPro [P]3384
contig referenceCPro [P]3384
2281589121467 rs1301384094 N.D. missenseTLeu [L]2385
contig referenceCPro [P]2385
2281589161471 rs763695821 0.000 synonymousGArg [R]3386
contig referenceAArg [R]3386
2281589191474 rs1411002469 N.D. synonymousGAla [A]3387
contig referenceAAla [A]3387
2281589221477 rs1290792498 N.D. synonymousAGly [G]3388
contig referenceCGly [G]3388
2281589231478 rs1334342053 N.D. missenseAThr [T]1389
contig referenceGAla [A]1389
2281589271482 rs1229751931 N.D. missenseAHis [H]2390
contig referenceCPro [P]2390
2281589291484 rs1238871715 N.D. frame shift-Arg [R]1391
contig referenceGAla [A]1391
2281589301485 rs1259715513 N.D. missenseTVal [V]2391
contig referenceCAla [A]2391
2281589331488 rs1356633840 N.D. missenseTPhe [F]2392
contig referenceCSer [S]2392
2281589351490 rs1224011991 N.D. missenseTTrp [W]1393
contig referenceCArg [R]1393
2281589361491 rs1312305366 N.D. missenseAGln [Q]2393
contig referenceGArg [R]2393
2281589381493 rs1288999121 N.D. (18bp) [SATSAG]1401
2281589401495 rs1490055239 N.D. synonymousCThr [T]3394
contig referenceGThr [T]3394
2281589451500 rs932326557 N.D. missenseAAsn [N]2396
contig referenceGSer [S]2396
2281589471502 rs1252652276 N.D. missenseAThr [T]1397
contig referenceGAla [A]1397
2281589491504 rs1417076615 N.D. synonymousAAla [A]3397
contig referenceTAla [A]3397
2281589501505 rs1180823844 N.D. missenseGAla [A]1398
contig referenceAThr [T]1398
2281589511506 rs140942230 0.009byClusterbyFreqWith1000GenomeData0.0018 missenseTIle [I]2398
contig referenceCThr [T]2398
2281589521507 rs557364093 0.000With1000GenomeData0.0002 synonymousAThr [T]3398
contig referenceCThr [T]3398
2281589531508 rs1426810188 N.D. missenseCPro [P]1399
contig referenceTSer [S]1399
2281589561511 rs1161701578 N.D. missenseAThr [T]1400
contig referenceGAla [A]1400
2281589571512 rs761261049 0.001byFreq missenseAGlu [E]2400
missenseGGly [G]2400
contig referenceCAla [A]2400
2281589581513 rs766730286 0.000 synonymousAAla [A]3400
contig referenceGAla [A]3400
2281589601515 rs1163953548 N.D. frame shiftCACTHis [H]2403
contig reference-Val [V]2403
2281589651520 rs1170116633 N.D. missenseTPhe [F]1403
contig referenceGVal [V]1403
2281589661521 rs1310388444 N.D. missenseCAla [A]2403
contig referenceTVal [V]2403
2281589671522 rs754261952 0.000byFreq synonymousTVal [V]3403
contig referenceCVal [V]3403
2281589681523 rs755275348 0.000byFreq missenseAArg [R]1404
contig referenceGGly [G]1404
2281589691524 rs1313913578 N.D. missenseAGlu [E]2404
contig referenceGGly [G]2404
2281589701525 rs779145910 0.000 synonymousAGly [G]3404
contig referenceGGly [G]3404
2281589761531 rs752909628 0.000 synonymousAGln [Q]3406
contig referenceGGln [Q]3406
2281589771532 rs758530794 0.000byFreq missenseASer [S]1407
contig referenceGGly [G]1407
2281589791534 rs1205331630 N.D. synonymousTGly [G]3407
contig referenceCGly [G]3407
2281589801535 rs918865729 N.D. missenseTTrp [W]1408
contig referenceCArg [R]1408
2281589811536 rs373075457 0.000byCluster missenseAGln [Q]2408
missenseCPro [P]2408
missenseTLeu [L]2408
contig referenceGArg [R]2408
2281589831538 rs912200622 N.D. missenseGAla [A]1409
contig referenceCPro [P]1409
2281589851540 rs770928675 0.000byFreq synonymousTPro [P]3409
contig referenceCPro [P]3409
2281589861541 rs780938071 0.000byFreq missenseASer [S]1410
contig referenceGGly [G]1410
2281589881543 rs1446262903 N.D. synonymousTGly [G]3410
contig referenceCGly [G]3410
2281589921547 rs200334298 0.003byClusterbyFreq missenseTTyr [Y]1412
contig referenceCHis [H]1412
2281589951550 rs9970408 N.D. missenseALys [K]1413
contig referenceGGlu [E]1413
2281589951550 rs1053292748 N.D. frame shift-Ser [S]1413
contig referenceGGlu [E]1413
2281589971552 rs1384922398 N.D. synonymousAGlu [E]3413
contig referenceGGlu [E]3413
2281589981553 rs769684659 0.000 missenseGGly [G]1414
missenseTTrp [W]1414
contig referenceCArg [R]1414
2281589991554 rs775352391 0.000byFreq missenseAGln [Q]2414
missenseTLeu [L]2414
contig referenceGArg [R]2414
2281590001555 rs1371799717 N.D. synonymousAArg [R]3414
contig referenceGArg [R]3414
2281590011556 rs1412845295 N.D. missenseTSer [S]1415
contig referenceCPro [P]1415
2281590041559 rs201397089 0.000byClusterbyFreq missenseAArg [R]1416
contig referenceGGly [G]1416
2281590071562 rs1303972896 N.D. missenseAThr [T]1417
contig referenceGAla [A]1417
2281590081563 rs768366417 0.000 missenseTVal [V]2417
contig referenceCAla [A]2417
2281590121567 rs773338759 0.001byFreq -Asn [N]3418
2281590131568 rs774004622 0.000byFreq missenseTSer [S]1419
contig referenceCPro [P]1419
2281590141569 rs1381586922 N.D. missenseTLeu [L]2419
contig referenceCPro [P]2419
2281590161571 rs745978138 0.001byClusterbyFreq missenseGGly [G]1420
contig referenceAArg [R]1420
2281590191574 rs766933214 0.000byFreq missenseTSer [S]1421
contig referenceGAla [A]1421
2281590231578 rs1305649885 N.D. missenseAAsp [D]2422
contig referenceGGly [G]2422
2281590281583 rs1226560267 N.D. missenseALys [K]1424
contig referenceGGlu [E]1424
2281590321587 rs754268505 0.000byFreq missenseGArg [R]2425
contig referenceALys [K]2425
2281590331588 rs1410980127 N.D. missenseCAsn [N]3425
contig referenceGLys [K]3425
2281590381593 rs760012366 0.000byFreq missenseAAsn [N]2427
contig referenceGSer [S]2427
2281590511606 rs765571379 0.000byFreq missenseCSer [S]3431
contig referenceGArg [R]3431
2281590521607 rs1247309792 N.D. missenseTTyr [Y]1432
contig referenceGAsp [D]1432
2281590541609 rs752999655 0.000 synonymousTAsp [D]3432
contig referenceCAsp [D]3432
2281590551610 rs1163512322 N.D. missenseTTrp [W]1433
contig referenceGGly [G]1433
2281590561611 rs1242702778 N.D. missenseTVal [V]2433
contig referenceGGly [G]2433
2281590601615 rs758621887 0.000 synonymousALys [K]3434
contig referenceGLys [K]3434
2281590631618 rs777928367 0.000 synonymousTThr [T]3435
contig referenceCThr [T]3435
2281590651620 rs1417426638 N.D. missenseAAsn [N]2436
contig referenceCThr [T]2436
2281590661621 rs751678965 0.000byFreq synonymousAThr [T]3436
synonymousTThr [T]3436
contig referenceCThr [T]3436
2281590691624 rs1459406324 N.D. synonymousAVal [V]3437
contig referenceGVal [V]3437
2281590711626 rs1284328739 N.D. missenseTLeu [L]2438
contig referenceGTrp [W]2438
2281590721627 rs1264734147 N.D. missenseCCys [C]3438
contig referenceGTrp [W]3438
2281590731628 rs781235096 0.000 missenseCLeu [L]1439
missenseGVal [V]1439
contig referenceAIle [I]1439
2281590771632 rs1432167446 N.D. synonymousA2440
contig referenceG2440