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SNP linked to Gene (geneID:174) 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): 2
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_001134.2plus strandNP_001125.1forwardNT_016354.20GRCh38.p7<- currently shown
NM_001354717.1plus strandNP_001341646.1forwardNT_016354.20GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_016354.20NM_001134.2NP_001125.1forwardplus strand595, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
7343626446 rs1334708826 N.D. missenseCThr [T]21
contig referenceTMet [M]21
7343627355 rs1452921475 N.D. missenseCAla [A]24
contig referenceTVal [V]24
7343627961 rs772124754 0.000 nonsenseA26
contig referenceCSer [S]26
7343628062 rs1178955202 N.D. synonymousCSer [S]36
contig referenceASer [S]36
7343628163 rs1479715998 N.D. frame shiftTPhe [F]19
contig reference-Leu [L]19
7343628365 rs773234279 0.000 synonymousAIle [I]37
contig referenceTIle [I]37
7343628466 rs1447735822 N.D. missenseCLeu [L]18
contig referenceTPhe [F]18
7343628870 rs200781949 0.000byClusterbyFreq nonsenseA29
contig referenceTLeu [L]29
7343628971 rs201668475 0.002byCluster missenseTPhe [F]39
contig referenceALeu [L]39
7343629476 rs372320842 0.000byClusterbyFreq missenseCSer [S]211
contig referenceTPhe [F]211
7343629678 rs866779359 N.D.byCluster missenseAIle [I]112
contig referenceCLeu [L]112
7343629880 rs763153741 0.000 frame shift-313
contig referenceALeu [L]313
7343629880 rs1223628868 N.D. synonymousGLeu [L]312
contig referenceALeu [L]312
7343629981 rs1302581884 N.D. missenseAIle [I]113
contig referenceCLeu [L]113
7343630082 rs776953401 0.000byFreq missenseCPro [P]213
contig referenceTLeu [L]213
7343630890 rs369819257 0.000byCluster missenseGAla [A]116
contig referenceAThr [T]116
7343631092 rs759858480 0.000byFreq synonymousAThr [T]316
contig referenceTThr [T]316
7343631193 rs868639778 N.D. missenseALys [K]117
contig referenceGGlu [E]117
7343631395 rs150335619 0.000byCluster missenseCAsp [D]317
missenseTAsp [D]317
contig referenceAGlu [E]317
7343631496 rs1354970382 N.D. missenseCPro [P]118
contig referenceTSer [S]118
73436318100 rs1309827477 N.D. missenseALys [K]219
contig referenceGArg [R]219
73436319101 rs1198846834 N.D. synonymousGArg [R]319
contig referenceAArg [R]319
73436320102 rs752338948 0.000 missenseGAla [A]120
contig referenceAThr [T]120
73436322104 rs766549436 0.000 -321
73436325107 rs1176479371 N.D. synonymousALeu [L]321
synonymousCLeu [L]321
contig referenceGLeu [L]321
73436326108 rs1425618642 N.D. missenseAAsn [N]122
contig referenceCHis [H]122
73436330112 rs897317988 N.D. missenseTIle [I]223
contig referenceGArg [R]223
73436331113 rs1406389980 N.D. synonymousGArg [R]323
contig referenceAArg [R]323
73436336118 rs762514616 0.000 missenseGGly [G]225
contig referenceAGlu [E]225
73436338120 rs1174217541 N.D. missenseCHis [H]126
contig referenceTTyr [Y]126
73436340122 rs763653699 0.000byFreq synonymousCTyr [Y]326
contig referenceTTyr [Y]326
73436347129 rs202199587 0.000byClusterbyFreq YesmissenseAThr [T]129
missenseCPro [P]129
contig referenceGAla [A]129
73437165135 rs756188972 0.000 missenseGVal [V]131
contig referenceAIle [I]131
73437166136 rs1249663541 N.D. missenseCThr [T]231
contig referenceTIle [I]231
73437167137 rs1290198788 N.D. missenseGMet [M]331
contig referenceAIle [I]331
73437170140 rs1220051424 N.D. synonymousALeu [L]332
contig referenceGLeu [L]332
73437170140 rs1361305130 N.D. frame shift-Ile [I]333
contig referenceGAsp [D]333
73437171141 rs766183408 0.000byFreq missenseTTyr [Y]133
contig referenceGAsp [D]133
73437172142 rs866802984 N.D. missenseCAla [A]233
contig referenceAAsp [D]233
73437178148 rs1216645755 N.D. missenseGCys [C]235
contig referenceATyr [Y]235
73437179149 rs753626670 0.000byFreq synonymousTTyr [Y]335
contig referenceCTyr [Y]335
73437185155 rs763234627 N.D. synonymousCCys [C]337
contig referenceTCys [C]337
73437192162 rs1297382245 N.D. missenseALys [K]140
contig referenceGGlu [E]140
73437194164 rs758616920 0.000 synonymousAGlu [E]340
contig referenceGGlu [E]340
73437196166 rs777822045 0.000 missenseALys [K]241
contig referenceTIle [I]241
73437198168 rs1385693646 N.D. missenseGGly [G]142
contig referenceASer [S]142
73437206176 rs1334047040 N.D. synonymousAAla [A]344
contig referenceTAla [A]344
73437210180 rs1182640029 N.D. missenseGVal [V]146
contig referenceCLeu [L]146
73437211181 rs1387375714 N.D. missenseCPro [P]246
contig referenceTLeu [L]246
73438174182 rs1017306234 N.D. synonymousALeu [L]346
contig referenceGLeu [L]346
73438175183 rs779423805 0.000 missenseAThr [T]147
missenseTSer [S]147
contig referenceGAla [A]147
73438176184 rs1207750580 N.D. missenseTVal [V]247
contig referenceCAla [A]247
73438180188 rs965682910 N.D. synonymousTThr [T]348
contig referenceCThr [T]348
73438182190 rs1383178003 N.D. missenseCThr [T]249
contig referenceTIle [I]249
73438185193 rs146576905 0.001byClusterbyFreqWith1000GenomeData0.0012 YesmissenseATyr [Y]250
contig referenceTPhe [F]250
73438192200 rs775043174 N.D. synonymousTAla [A]352
contig referenceCAla [A]352
73438204212 rs1054237557 N.D. synonymousGGln [Q]356
contig referenceAGln [Q]356
73438206214 rs1277696261 N.D. missenseGGly [G]257
contig referenceAGlu [E]257
73438208216 rs1349777642 N.D. missenseAThr [T]158
contig referenceGAla [A]158
73438210218 rs771900256 0.000 synonymousAAla [A]358
contig referenceCAla [A]358
73438211219 rs772820392 0.000 missenseGAla [A]159
contig referenceAThr [T]159
73438213221 rs760064721 0.000byFreq synonymousCThr [T]359
synonymousGThr [T]359
contig referenceTThr [T]359
73438214222 rs1203241316 N.D. missenseGAsp [D]160
contig referenceTTyr [Y]160
73438216224 rs892791342 N.D. nonsenseG360
contig referenceCTyr [Y]360
73438218226 rs770499754 0.000 missenseCThr [T]261
contig referenceALys [K]261
73438220228 rs1446816370 N.D. missenseCGln [Q]162
contig referenceGGlu [E]162
73438224232 rs776377620 0.000byFreq missenseCAla [A]263
contig referenceTVal [V]263
73438233241 rs1180190526 N.D. missenseCThr [T]266
contig referenceTMet [M]266
73438234242 rs868336154 N.D. missenseTIle [I]366
contig referenceGMet [M]366
73438234242 rs919016338 N.D. frame shift-367
contig referenceGVal [V]367
73438235243 rs759526509 0.000 missenseTLeu [L]167
contig referenceGVal [V]167
73438238246 rs558885965 0.000With1000GenomeData0.0002 missenseGGlu [E]168
contig referenceALys [K]168
73438240248 rs1010357095 N.D. missenseCAsn [N]368
contig referenceALys [K]368
73438242250 rs139089703 0.000byClusterWith1000GenomeData0.0002 YesmissenseGGly [G]269
missenseTVal [V]269
contig referenceAAsp [D]269
73438245253 rs367831004 0.000byClusterbyFreq YesmissenseGGly [G]270
missenseTVal [V]270
contig referenceCAla [A]270
73438246254 rs371149488 0.000byCluster YessynonymousGAla [A]370
contig referenceAAla [A]370
73438247255 rs767764350 0.000 synonymousCLeu [L]171
contig referenceTLeu [L]171
73438250258 rs1335654018 N.D. missenseGAla [A]172
contig referenceAThr [T]172
73438251259 rs750671806 0.000 missenseTIle [I]272
contig referenceCThr [T]272
73438253261 rs1392773326 N.D. frame shift(7bp)Asp [D]173
contig reference-Ala [A]173
73438253261 rs1416037419 N.D. missenseAThr [T]173
contig referenceGAla [A]173
73438254262 rs1326538649 N.D. missenseGGly [G]273
contig referenceCAla [A]273
73438256264 rs756096253 0.000 missenseGVal [V]174
contig referenceAIle [I]174
73438257265 rs780194180 0.000byFreq missenseCThr [T]274
contig referenceTIle [I]274
73438259267 rs1285162474 N.D. missenseCGln [Q]175
contig referenceGGlu [E]175
73438263271 rs754231918 0.000 missenseGArg [R]276
contig referenceALys [K]276
73438277285 rs755575700 0.000byFreq missenseALys [K]181
contig referenceGGlu [E]181
73438278286 rs1233702163 N.D. missenseTVal [V]281
contig referenceAGlu [E]281
73438280288 rs779400110 0.000byCluster nonsenseT182
contig referenceCGln [Q]182
73438284292 rs748563961 0.000byFreq missenseATyr [Y]283
contig referenceCSer [S]283
73438286294 rs763570349 N.D. missenseGAla [A]184
contig referenceTSer [S]184
73438287295 rs1194309474 N.D. missenseTLeu [L]284
contig referenceCSer [S]284
73438288296 rs1250207782 N.D. synonymousGSer [S]384
contig referenceASer [S]384
73438289297 rs1184729918 N.D. frame shift-Val [V]186
contig referenceGCys [C]186
73438290298 rs772597931 0.000byFreq missenseAGlu [E]285
missenseCAla [A]285
contig referenceGGly [G]285
73438293301 rs1482263301 N.D. missenseTPhe [F]286
contig referenceGCys [C]286
73438296304 rs1274417301 N.D. nonsenseG287
contig referenceTLeu [L]287
73438297305 rs1202196572 N.D. synonymousGLeu [L]387
contig referenceALeu [L]387
73438304312 rs746690351 0.000 missenseGGlu [E]190
contig referenceCGln [Q]190
73438305313 rs770282601 0.000 missenseGArg [R]290
contig referenceAGln [Q]290
73438306314 rs776275608 0.000byClusterbyFreq synonymousAGln [Q]390
contig referenceGGln [Q]390
73440617330 rs753280044 0.000 missenseALys [K]196
contig referenceGGlu [E]196
73440623336 rs758780080 0.000byFreq missenseAIle [I]198
missenseTPhe [F]198
contig referenceCLeu [L]198
73440628341 rs746641875 0.000 synonymousTCys [C]399
contig referenceCCys [C]399
73440630343 rs1295120418 N.D. missenseGArg [R]2100
contig referenceAHis [H]2100
73440633346 rs755796587 0.000byCluster frame shift-Phe [F]2103
contig referenceAGAAGlu [E]2103
73440635348 rs1248456360 N.D. missenseGGlu [E]1102
contig referenceALys [K]1102
73440638351 rs756995990 0.000 missenseCGln [Q]1103
contig referenceGGlu [E]1103
73440640353 rs773326266 N.D. missenseCAsp [D]3103
contig referenceAGlu [E]3103
73440642355 rs1359212218 N.D. missenseCThr [T]2104
contig referenceTIle [I]2104
73440644357 rs538034000 0.000byFreqWith1000GenomeData0.0002 synonymousCLeu [L]1105
contig referenceTLeu [L]1105
73440646359 rs1263068526 N.D. synonymousALeu [L]3105
contig referenceGLeu [L]3105
73440648361 rs745419259 0.000 missenseGGly [G]2106
contig referenceAGlu [E]2106
73440649362 rs762964777 N.D. synonymousAGlu [E]3106
contig referenceGGlu [E]3106
73440650363 rs1270865368 N.D. missenseGGlu [E]1107
contig referenceALys [K]1107
73440655368 rs375543359 0.000byClusterbyFreq YessynonymousTTyr [Y]3108
contig referenceCTyr [Y]3108
73440656369 rs115932512 0.001byClusterbyFreqWith1000GenomeData0.0028 YesmissenseAArg [R]1109
missenseCArg [R]1109
contig referenceGGly [G]1109
73440660373 rs766149461 0.000 missenseGArg [R]2110
missenseTLeu [L]2110
contig referenceAHis [H]2110
73440665378 rs751368057 N.D. missenseCHis [H]1112
contig referenceGAsp [D]1112
73440673386 rs969659100 N.D. synonymousTCys [C]3114
contig referenceCCys [C]3114
73440678391 rs1288714188 N.D. missenseGArg [R]2116
contig referenceAGln [Q]2116
73440681394 rs368290434 0.000byCluster YesmissenseCThr [T]2117
contig referenceGSer [S]2117
73440682395 rs1185077799 N.D. missenseAArg [R]3117
contig referenceTSer [S]3117
73440686399 rs760793408 0.000 missenseCGln [Q]1119
contig referenceGGlu [E]1119
73440687400 rs372500027 0.000byClusterbyFreq YesmissenseGGly [G]2119
contig referenceAGlu [E]2119
73440688401 rs143015198 0.000byClusterbyFreq YesmissenseCAsp [D]3119
missenseTAsp [D]3119
synonymousAGlu [E]3119
contig referenceGGlu [E]3119
73440695408 rs1346960405 N.D. missenseAAsn [N]1122
contig referenceCHis [H]1122
73440696409 rs1451546504 N.D. missenseGArg [R]2122
contig referenceAHis [H]2122
73440700413 rs765422731 0.000byFreq missenseALys [K]3123
contig referenceCAsn [N]3123
73440705418 rs1324124401 N.D. missenseCSer [S]2125
contig referenceTPhe [F]2125
73440707420 rs1461172158 N.D. missenseTPhe [F]1126
contig referenceCLeu [L]1126
73440709422 rs1406949539 N.D. synonymousCLeu [L]3126
contig referenceTLeu [L]3126
73440711424 rs367965385 0.000byClusterbyFreq YesmissenseTVal [V]2127
contig referenceCAla [A]2127
73440712425 rs1335021804 N.D. synonymousGAla [A]3127
contig referenceAAla [A]3127
73440715428 rs1161744746 N.D. frame shift-Gln [Q]3128
contig referenceCHis [H]3128
73440717430 rs1399426024 N.D. missenseGArg [R]2129
contig referenceALys [K]2129
73440721434 rs759044346 0.000 synonymousALys [K]3130
contig referenceGLys [K]3130
73440722435 rs1026507979 N.D. missenseTSer [S]1131
contig referenceCPro [P]1131
73440725438 rs764357434 0.000 missenseTSer [S]1132
contig referenceAThr [T]1132
73440730443 rs200305333 0.000byClusterbyFreq YessynonymousGPro [P]3133
contig referenceAPro [P]3133
73440731444 rs756825289 0.000byFreq missenseAThr [T]1134
contig referenceGAla [A]1134
73440732445 rs568296633 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTVal [V]2134
contig referenceCAla [A]2134
73440735448 rs754667512 N.D. missenseTLeu [L]2135
contig referenceCSer [S]2135
73440736449 rs767798104 N.D. synonymousASer [S]3135
contig referenceGSer [S]3135
73440737450 rs544601167 0.000byClusterbyFreq missenseTPhe [F]1136
contig referenceAIle [I]1136
73440742455 rs755560631 0.000 synonymousGPro [P]3137
contig referenceAPro [P]3137
73440743456 rs752874579 0.000 missenseGVal [V]1138
missenseTPhe [F]1138
contig referenceCLeu [L]1138
73440749462 rs371770284 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseALys [K]1140
contig referenceCGln [Q]1140
73440755468 rs964597806 N.D. missenseGAla [A]1142
contig referenceCPro [P]1142
73440759472 rs374723455 0.000byCluster YesmissenseCAla [A]2143
contig referenceAGlu [E]2143
73440761474 rs866032927 N.D.byCluster missenseTSer [S]1144
contig referenceCPro [P]1144
73440765478 rs556662592 N.D. missenseGGly [G]2145
contig referenceTVal [V]2145
73440771484 rs368968696 0.000byCluster YesmissenseAAsn [N]2147
contig referenceGSer [S]2147
73440774487 rs778542569 0.000 missenseTPhe [F]2148
contig referenceGCys [C]2148
73440775488 rs1236485228 N.D. synonymousCCys [C]3148
contig referenceTCys [C]3148
73440778491 rs1039534359 N.D. synonymousGGlu [E]3149
contig referenceAGlu [E]3149
73440779492 rs1022124099 N.D. missenseAThr [T]1150
contig referenceGAla [A]1150
73440783496 rs1301355128 N.D. missenseTPhe [F]2151
contig referenceATyr [Y]2151
73440784497 rs113645421 0.000byFreq YessynonymousCTyr [Y]3151
contig referenceTTyr [Y]3151
73440794507 rs1430035280 N.D. missenseGGly [G]1155
contig referenceAArg [R]1155
73440797510 rs1238173408 N.D. missenseALys [K]1156
contig referenceGGlu [E]1156
73440800513 rs554506762 0.000byFreqWith1000GenomeData0.0002 missenseGAla [A]1157
contig referenceAThr [T]1157
73440807520 rs776857037 0.000byFreq missenseALys [K]2159
missenseCThr [T]2159
contig referenceTMet [M]2159
73440809522 rs777832818 0.000 frame shift-Thr [T]1160
contig referenceAAsn [N]1160
73440810523 rs148186203 0.000byCluster YesmissenseTIle [I]2160
contig referenceAAsn [N]2160
73440811524 rs1429037532 N.D. synonymousTAsn [N]3160
contig referenceCAsn [N]3160
73440812525 rs1300204159 N.D. missenseGGlu [E]1161
contig referenceALys [K]1161
73442304535 rs1410234836 N.D. missenseGCys [C]2164
contig referenceATyr [Y]2164
73442309540 rs995253377 N.D. missenseGVal [V]1166
contig referenceAIle [I]1166
73442313544 rs969286061 N.D. missenseTVal [V]2167
contig referenceCAla [A]2167
73442319550 rs143076376 0.000byClusterbyFreq YesmissenseALys [K]2169
contig referenceGArg [R]2169
73442320551 rs1403651378 N.D. missenseTSer [S]3169
contig referenceGArg [R]3169
73442322553 rs770193593 0.000byFreq missenseGArg [R]2170
contig referenceAHis [H]2170
73442324555 rs1374988486 N.D. missenseTSer [S]1171
contig referenceCPro [P]1171
73442325556 rs775685536 0.000 missenseGArg [R]2171
contig referenceCPro [P]2171
73442330561 rs1158931947 N.D. synonymousTLeu [L]1173
contig referenceCLeu [L]1173
73442332563 rs763082918 0.000byFreq synonymousALeu [L]3173
synonymousCLeu [L]3173
contig referenceGLeu [L]3173
73442335566 rs774860521 0.000 synonymousCTyr [Y]3174
contig referenceTTyr [Y]3174
73442338569 rs369195112 0.001byClusterbyFreq YessynonymousCAla [A]3175
contig referenceAAla [A]3175
73442339570 rs772839127 0.000byFreq missenseAThr [T]1176
contig referenceCPro [P]1176
73442342573 rs1292241811 N.D. missenseGAla [A]1177
contig referenceAThr [T]1177
73442343574 rs151308004 0.000byClusterWith1000GenomeData0.0002 YesmissenseALys [K]2177
contig referenceCThr [T]2177
73442345576 rs1197217403 N.D. missenseGVal [V]1178
contig referenceAIle [I]1178
73442349580 rs1352037955 N.D. frame shift-Gly [G]2180
contig referenceTTCTLeu [L]2180
73442354585 rs1246163621 N.D. missenseGGly [G]1181
contig referenceTTrp [W]1181
73442355586 rs763054422 N.D. missenseTLeu [L]2181
contig referenceGTrp [W]2181
73442357588 rs765976739 0.000 missenseAThr [T]1182
contig referenceGAla [A]1182
73442358589 rs1417717133 N.D. missenseTVal [V]2182
contig referenceCAla [A]2182
73442360591 rs1405293577 N.D. missenseAThr [T]1183
contig referenceGAla [A]1183
73442361592 rs753512757 0.000 missenseTVal [V]2183
contig referenceCAla [A]2183
73442363594 rs754454295 0.000byFreq missenseTCys [C]1184
contig referenceCArg [R]1184
73442365596 rs557766276 0.000With1000GenomeData0.0002 synonymousAArg [R]3184
contig referenceCArg [R]3184
73442367598 rs1437331100 N.D. missenseGCys [C]2185
contig referenceATyr [Y]2185
73442369600 rs992593763 N.D. missenseAAsn [N]1186
contig referenceGAsp [D]1186
73442370601 rs778293375 0.000 missenseGGly [G]2186
contig referenceAAsp [D]2186
73442371602 rs146140853 0.000byClusterbyFreq YesmissenseGGlu [E]3186
synonymousTAsp [D]3186
contig referenceCAsp [D]3186
73442372603 rs35765619 0.021byClusterbyFreqWith1000GenomeData0.0058 YesmissenseCGln [Q]1187
missenseCGln [Q]1187
contig referenceALys [K]1187
contig referenceALys [K]1187
73442373604 rs1430904634 N.D. missenseGArg [R]2187
contig referenceALys [K]2187
73442382613 rs1271567108 N.D. missenseTLeu [L]2190
contig referenceCPro [P]2190
73442383614 rs746844994 0.000 synonymousGPro [P]3190
contig referenceAPro [P]3190
73442385616 rs1220657532 N.D. missenseTPhe [F]2191
contig referenceCSer [S]2191
73442386617 rs1447549300 N.D. synonymousCSer [S]3191
contig referenceTSer [S]3191
73442389620 rs757145276 0.000byFreq synonymousTCys [C]3192
contig referenceCCys [C]3192
73442391622 rs780371147 0.000byFreq missenseTPhe [F]2193
contig referenceGCys [C]2193
73442399630 rs142136082 0.000byClusterbyFreq YesmissenseALys [K]1196
contig referenceGGlu [E]1196
73442406637 rs768712248 0.000 missenseAGlu [E]2198
contig referenceCAla [A]2198
73442407638 rs35924362 0.007byClusterbyFreqWith1000GenomeData0.0028 YessynonymousCAla [A]3198
contig referenceAAla [A]3198
73442409640 rs1447648613 N.D. missenseCAla [A]2199
contig referenceTVal [V]2199
73442416647 rs1217957221 N.D. frame shift-Ser [S]3202
contig referenceCPhe [F]3202
73442418649 rs748674596 0.000byFreq missenseCSer [S]2202
contig referenceTPhe [F]2202
73442419650 rs772503434 0.000 missenseGLeu [L]3202
contig referenceCPhe [F]3202
73442422653 rs773534607 0.000byFreq synonymousGGln [Q]3203
contig referenceAGln [Q]3203
73442428659 rs1308781257 N.D. missenseTAsn [N]3205
contig referenceGLys [K]3205
73443347660 rs1200121430 N.D. missenseTSer [S]1206
contig referenceGAla [A]1206
73443348661 rs906071087 N.D. missenseTVal [V]2206
contig referenceCAla [A]2206
73443354667 rs1392212637 N.D. missenseTIle [I]2208
contig referenceCThr [T]2208
73443357670 rs763707750 0.000 missenseCAla [A]2209
contig referenceTVal [V]2209
73443359672 rs751472974 0.000byFreq missenseGAla [A]1210
contig referenceAThr [T]1210
73443364677 rs758839496 N.D. missenseCAsn [N]3211
contig referenceALys [K]3211
73443368681 rs371502429 0.000byClusterbyFreq YessynonymousCLeu [L]1213
contig referenceTLeu [L]1213
73443377690 rs767405050 0.000byFreq missenseGGly [G]1216
contig referenceASer [S]1216
73443378691 rs1033887023 N.D. missenseAAsn [N]2216
contig referenceGSer [S]2216
73443380693 rs146456647 0.000byClusterWith1000GenomeData0.0002 YesmissenseGGly [G]1217
contig referenceASer [S]1217
73443383696 rs1180197884 N.D. synonymousCLeu [L]1218
contig referenceTLeu [L]1218
73443385698 rs888112817 N.D. missenseCPhe [F]3218
contig referenceGLeu [L]3218
73443395708 rs200092580 0.000byClusterWith1000GenomeData0.0002 YesmissenseAAsn [N]1222
contig referenceCHis [H]1222
73443396709 rs1464194932 N.D. missenseGArg [R]2222
contig referenceAHis [H]2222
73443397710 rs778962034 0.000 synonymousCHis [H]3222
contig referenceTHis [H]3222
73443401714 rs1396910790 N.D. missenseCArg [R]1224
contig referenceTCys [C]1224
73443402715 rs1411506639 N.D. missenseATyr [Y]2224
contig referenceGCys [C]2224
73443403716 rs1437520522 N.D. missenseGTrp [W]3224
contig referenceTCys [C]3224
73443404717 rs531733213 0.000With1000GenomeData0.0002 missenseAThr [T]1225
contig referenceGAla [A]1225
73443409722 rs1349726914 N.D. synonymousCVal [V]3226
contig referenceAVal [V]3226
73443411724 rs758406512 0.000 missenseCThr [T]2227
contig referenceTMet [M]2227
73443413726 rs1222155482 N.D. missenseCGln [Q]1228
contig referenceALys [K]1228
73443416729 rs777897812 0.000 missenseCHis [H]1229
contig referenceAAsn [N]1229
73443420733 rs1343759470 N.D. missenseCSer [S]2230
contig referenceTPhe [F]2230
73443421734 rs550169369 0.000byFreqWith1000GenomeData0.0004 missenseGLeu [L]3230
contig referenceTPhe [F]3230
73443424737 rs771479681 0.000 synonymousTGly [G]3231
contig referenceGGly [G]3231
73443428741 rs1005598459 N.D. nonsenseT1233
contig referenceCArg [R]1233
73443429742 rs781592078 0.000byFreq missenseAGln [Q]2233
missenseTLeu [L]2233
contig referenceGArg [R]2233
73443433746 rs746182179 0.000 synonymousAThr [T]3234
contig referenceTThr [T]3234
73443438751 rs770221559 0.000 missenseTLeu [L]2236
contig referenceAGln [Q]2236
73443443756 rs200267486 0.000byClusterbyFreq YesmissenseCLeu [L]1238
contig referenceAIle [I]1238
73444995760 rs373540770 0.000byCluster YesmissenseTIle [I]2239
contig referenceCThr [T]2239
73444999764 rs1030486444 N.D. synonymousCVal [V]3240
contig referenceTVal [V]3240
73445000765 rs751714847 0.000 frame shift-Glu [E]1242
contig referenceACTAALys [K]1242
73445010775 rs950145405 N.D. missenseCThr [T]2244
contig referenceGSer [S]2244
73445019784 rs1383656763 N.D. missenseCSer [S]2247
contig referenceTPhe [F]2247
73445023788 rs1389286639 N.D. synonymousTThr [T]3248
contig referenceCThr [T]3248
73445035800 rs1453267731 N.D. synonymousCPhe [F]3252
contig referenceTPhe [F]3252
73445037802 rs139295532 0.000byClusterbyFreq YesmissenseGSer [S]2253
contig referenceCThr [T]2253
73445038803 rs771634295 0.000 synonymousCThr [T]3253
contig referenceTThr [T]3253
73445043808 rs1366718466 N.D. missenseAAsn [N]2255
contig referenceTIle [I]2255
73445047812 rs1457352573 N.D. synonymousAGln [Q]3256
contig referenceGGln [Q]3256
73445051816 rs41265657 0.039byClusterbyFreqWith1000GenomeData0.0146 YesmissenseGVal [V]1258
contig referenceCLeu [L]1258
73445053818 rs1387271047 N.D. synonymousGLeu [L]3258
contig referenceALeu [L]3258
73445057822 rs141239137 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseGVal [V]1260
contig referenceCLeu [L]1260
73445061826 rs766073703 0.000 missenseCAla [A]2261
contig referenceAAsp [D]2261
73445062827 rs753714202 0.000 synonymousCAsp [D]3261
contig referenceTAsp [D]3261
73445067832 rs934953054 N.D. missenseTVal [V]2263
contig referenceCAla [A]2263
73445068833 rs763127603 0.000 synonymousGAla [A]3263
contig referenceCAla [A]3263
73445071836 rs1248711165 N.D. missenseGGln [Q]3264
contig referenceTHis [H]3264
73445072837 rs1311033349 N.D. missenseAIle [I]1265
contig referenceGVal [V]1265
73445073838 rs764257723 0.000byCluster missenseGGly [G]2265
contig referenceTVal [V]2265
73445074839 rs751798976 0.000byFreq synonymousCVal [V]3265
contig referenceAVal [V]3265
73445076841 rs144243983 0.000byClusterbyFreq YesmissenseGArg [R]2266
missenseTLeu [L]2266
contig referenceAHis [H]2266
73445078843 rs1239498606 N.D. missenseALys [K]1267
contig referenceGGlu [E]1267
73445080845 rs1486585359 N.D. synonymousAGlu [E]3267
contig referenceGGlu [E]3267
73445085850 rs767644467 0.000 missenseATyr [Y]2269
contig referenceGCys [C]2269
73445086851 rs1318512542 N.D. synonymousCCys [C]3269
contig referenceTCys [C]3269
73445091856 rs750893628 0.000 missenseALys [K]2271
contig referenceGArg [R]2271
73445096861 rs1304712533 N.D. missenseAAsn [N]1273
contig referenceGAsp [D]1273
73445098863 rs1185134898 N.D. synonymousCAsp [D]3273
contig referenceTAsp [D]3273
73445099864 rs756705227 0.000 missenseAMet [M]1274
contig referenceGVal [V]1274
73445101866 rs1423129988 N.D. synonymousAVal [V]3274
contig referenceGVal [V]3274
73445103868 rs780261526 0.000 missenseCPro [P]2275
contig referenceTLeu [L]2275
73445105870 rs1223173057 N.D. missenseAAsn [N]1276
contig referenceGAsp [D]1276
73445114879 rs1365581012 N.D. missenseALys [K]1279
contig referenceCGln [Q]1279
73445119884 rs1455763163 N.D. missenseAGlu [E]3280
contig referenceTAsp [D]3280
73445120885 rs749712578 0.000 missenseCArg [R]1281
contig referenceGGly [G]1281
73445121886 rs1407021517 N.D. missenseCAla [A]2281
contig referenceGGly [G]2281
73447462888 rs778772992 0.000 frame shiftAAsn [N]1284
contig reference-Ile [I]1284
73447466892 rs779486958 0.000byFreq missenseGArg [R]2283
contig referenceALys [K]2283
73447468894 rs1220571466 N.D. missenseGVal [V]1284
contig referenceAIle [I]1284
73447470896 rs747788767 0.000byFreq synonymousAIle [I]3284
contig referenceCIle [I]3284
73447471897 rs995789230 N.D. missenseGVal [V]1285
contig referenceAMet [M]1285
73447472898 rs758117253 0.000 missenseCThr [T]2285
contig referenceTMet [M]2285
73447473899 rs1003646245 N.D. missenseTIle [I]3285
contig referenceGMet [M]3285
73447474900 rs1034676137 N.D. missenseGAla [A]1286
contig referenceTSer [S]1286
73447475901 rs1027150427 N.D. missenseTPhe [F]2286
contig referenceCSer [S]2286
73447476902 rs28482344 0.017byClusterbyFreqWith1000GenomeData0.0046 YessynonymousTSer [S]3286
contig referenceCSer [S]3286
73447478904 rs1471988479 N.D. missenseGCys [C]2287
contig referenceATyr [Y]2287
73447491917 rs1204388108 N.D. synonymousGGln [Q]3291
contig referenceAGln [Q]3291
73447492918 rs746485734 0.000byFreq missenseALys [K]1292
missenseGGlu [E]1292
contig referenceCGln [Q]1292
73447493919 rs776490501 0.000 missenseCPro [P]2292
contig referenceAGln [Q]2292
73447499925 rs144523159 0.000byClusterbyFreq YesmissenseTIle [I]2294
contig referenceCThr [T]2294
73447503929 rs147848862 0.002byClusterbyFreqWith1000GenomeData0.0010 YessynonymousALeu [L]3295
contig referenceGLeu [L]3295
73447511937 rs369341269 0.000byCluster YesmissenseTIle [I]2298
contig referenceALys [K]2298
73447513939 rs1172918330 N.D. missenseGVal [V]1299
contig referenceAIle [I]1299
73447518944 rs566738802 0.000With1000GenomeData0.0002 synonymousGThr [T]3300
contig referenceAThr [T]3300
73447519945 rs761922000 0.000 missenseALys [K]1301
contig referenceGGlu [E]1301
73447521947 rs966201909 N.D. synonymousGGlu [E]3301
contig referenceAGlu [E]3301
73447526952 rs867508994 N.D.byCluster missenseATyr [Y]2303
contig referenceGCys [C]2303
73447535961 rs1304328307 N.D. missenseAAsn [N]2306
missenseTIle [I]2306
contig referenceCThr [T]2306
73447536962 rs767824349 0.000byFreq synonymousGThr [T]3306
contig referenceCThr [T]3306
73447537963 rs773339360 0.000byFreq missenseGAla [A]1307
contig referenceAThr [T]1307
73447538964 rs760761382 0.000 missenseTMet [M]2307
contig referenceCThr [T]2307
73447539965 rs768059598 0.000byFreq synonymousAThr [T]3307
synonymousTThr [T]3307
contig referenceGThr [T]3307
73447540966 rs760178436 0.000 missenseAMet [M]1308
contig referenceCLeu [L]1308
73447542968 rs1299492872 N.D. frame shift-Val [V]3309
contig referenceGGAAGlu [E]3309
73447546972 rs765672473 0.000 missenseTCys [C]1310
contig referenceCArg [R]1310
73447547973 rs1445467949 N.D. missenseAHis [H]2310
contig referenceGArg [R]2310
73447550976 rs1484182249 N.D. missenseTVal [V]2311
contig referenceGGly [G]2311
73447554980 rs753006750 N.D. missenseTHis [H]3312
contig referenceAGln [Q]3312
73447555981 rs931904529 N.D. missenseCArg [R]1313
contig referenceTCys [C]1313
73447556982 rs1271293581 N.D. frame shift-Leu [L]2313
contig referenceGCys [C]2313
73447559985 rs967861911 N.D. missenseALys [K]2314
contig referenceTIle [I]2314
73447560986 rs1292482952 N.D. synonymousCIle [I]3314
contig referenceAIle [I]3314
73447563989 rs1453398506 N.D. synonymousAIle [I]3315
contig referenceTIle [I]3315
73447566992 rs1219384092 N.D. synonymousCHis [H]3316
contig referenceTHis [H]3316
73447567993 rs1043658246 N.D. missenseAThr [T]1317
contig referenceGAla [A]1317
73447569995 rs925113628 N.D. synonymousGAla [A]3317
contig referenceAAla [A]3317
734475741000 rs745393842 0.000byFreq -2320
734475821008 rs1190789872 N.D. missenseGGlu [E]1322
contig referenceALys [K]1322
734475841010 rs757901114 0.000byFreq -Asn [N]3322
734475861012 rs1449300797 N.D. missenseTLeu [L]2323
contig referenceCPro [P]2323
734475881014 rs753143931 0.000 nonsenseT1324
contig referenceGGlu [E]1324
734475911017 rs369690102 N.D.byCluster YesmissenseCArg [R]1325
contig referenceGGly [G]1325
734475921018 rs1404110561 N.D. missenseAAsp [D]2325
missenseTVal [V]2325
contig referenceGGly [G]2325
734475941020 rs758717686 0.000 synonymousTLeu [L]1326
contig referenceCLeu [L]1326
734475951021 rs1348824952 N.D. missenseCPro [P]2326
contig referenceTLeu [L]2326
734475961022 rs777431822 0.000byFreq synonymousGLeu [L]3326
contig referenceALeu [L]3326
734475971023 rs751180491 0.000 missenseCPro [P]1327
contig referenceTSer [S]1327
734475991025 rs756442974 N.D. synonymousASer [S]3327
contig referenceTSer [S]3327
734476001026 rs975244919 N.D. missenseTSer [S]1328
contig referenceCPro [P]1328
734476011027 rs1288550591 N.D. missenseAGln [Q]2328
contig referenceCPro [P]2328
734476031029 rs921197339 N.D. missenseCHis [H]1329
contig referenceAAsn [N]1329
734476101036 rs756715471 0.000 missenseGSer [S]2331
contig referenceAAsn [N]2331
734476161042 rs780750960 0.000 missenseCSer [S]2333
contig referenceTPhe [F]2333
734476191045 rs368783558 0.000byClusterbyFreq YesmissenseCSer [S]2334
contig referenceTLeu [L]2334
734476231049 rs1052234149 N.D. synonymousGGly [G]3335
contig referenceAGly [G]3335
734476281054 rs1226562222 N.D. missenseALys [K]2337
missenseCThr [T]2337
contig referenceGArg [R]2337
734476301056 rs1289195974 N.D. missenseCHis [H]1338
contig referenceGAsp [D]1338
734476331059 rs769775087 0.000byFreq missenseGVal [V]1339
contig referenceTPhe [F]1339
734476351061 rs779795832 0.000byFreq synonymousCPhe [F]3339
contig referenceTPhe [F]3339
734476361062 rs1161405762 N.D. missenseGAsp [D]1340
contig referenceAAsn [N]1340
734476431069 rs911894568 N.D. missenseATyr [Y]2342
contig referenceTPhe [F]2342
734476451071 rs749073240 0.000byFreq missenseCPro [P]1343
contig referenceTSer [S]1343
734476521078 rs940633267 N.D. missenseAGlu [E]2345
contig referenceGGly [G]2345
734476541080 rs896537897 N.D. missenseALys [K]1346
contig referenceGGlu [E]1346
734476541080 rs1160059021 N.D. frame shiftAALys [K]1348
contig reference-Asn [N]1348
734476551081 rs768359189 0.000byFreq missenseCAla [A]2346
missenseGGly [G]2346
contig referenceAGlu [E]2346
734476551081 rs779815391 0.000byFreq frame shift-Ile [I]2348
contig referenceAAsn [N]2348
734476571083 rs1014103360 N.D. missenseGGlu [E]1347
contig referenceALys [K]1347
734476611087 rs773427420 0.000 missenseTIle [I]2348
contig referenceAAsn [N]2348
734476621088 rs1270518315 N.D. synonymousCAsn [N]3348
contig referenceTAsn [N]3348
734476631089 rs188021984 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGVal [V]1349
contig referenceAIle [I]1349
734476641090 rs899221748 N.D. missenseGSer [S]2349
contig referenceTIle [I]2349
734476651091 rs771121448 0.000byFreq missenseGMet [M]3349
contig referenceCIle [I]3349
734476721098 rs376333213 0.000byCluster YesmissenseTSer [S]1352
contig referenceGAla [A]1352
734493351103 rs778640868 0.000byFreq synonymousCSer [S]3353
contig referenceTSer [S]3353
734493391107 rs376112674 0.000byCluster YesmissenseCLeu [L]1355
contig referenceGVal [V]1355
734493431111 rs200626144 0.000byClusterbyFreq YesmissenseGArg [R]2356
contig referenceAHis [H]2356
734493471115 rs1333262734 N.D. synonymousGGlu [E]3357
contig referenceAGlu [E]3357
734493531121 rs1399126551 N.D. synonymousCSer [S]3359
synonymousGSer [S]3359
contig referenceASer [S]3359
734493571125 rs777023996 0.000 missenseGGly [G]1361
contig referenceAArg [R]1361
734493621130 rs1005493160 N.D. synonymousCHis [H]3362
contig referenceTHis [H]3362
734493671135 rs759636523 0.000 missenseCPro [P]2364
contig referenceAGln [Q]2364
734493691137 rs1432776836 N.D. missenseTPhe [F]1365
contig referenceCLeu [L]1365
734493741142 rs771280920 0.000 synonymousAAla [A]3366
contig referenceTAla [A]3366
734493791147 rs1376999630 N.D. missenseTLeu [L]2368
contig referenceCSer [S]2368
734493811149 rs1015828029 N.D. missenseTLeu [L]1369
contig referenceGVal [V]1369
734493891157 rs1286488193 N.D. frame shift-Ser [S]3372
contig referenceAAArg [R]3372
734493931161 rs1349992595 N.D. missenseAIle [I]1373
contig referenceGVal [V]1373
734493941162 rs905689356 N.D. missenseGGly [G]2373
contig referenceTVal [V]2373
734493981166 rs775995318 0.000 synonymousCAla [A]3374
contig referenceTAla [A]3374
734493991167 rs1429222063 N.D. missenseGGlu [E]1375
contig referenceALys [K]1375
734494011169 rs746621443 0.000 frame shift-Val [V]3377
contig reference(8bp)Tyr [Y]3377
734494031171 rs763433563 0.000 missenseTVal [V]2376
contig referenceGGly [G]2376
734494081176 rs764510228 0.000byFreq nonsenseT1378
contig referenceCGln [Q]1378
734494091177 rs779218170 N.D. missenseGArg [R]2378
contig referenceAGln [Q]2378
734494101178 rs774632101 0.000 synonymousAGln [Q]3378
contig referenceGGln [Q]3378
734494171185 rs937151428 N.D. synonymousCLeu [L]1381
contig referenceTLeu [L]1381
734494181186 rs761426050 0.000 missenseCSer [S]2381
missenseGTrp [W]2381
contig referenceTLeu [L]2381
734494231191 rs555037837 0.000With1000GenomeData0.0002 missenseCGln [Q]1383
contig referenceALys [K]1383
734494321200 rs868732013 N.D.byCluster nonsenseT1386
contig referenceCGln [Q]1386
734494331201 rs750100359 0.000 missenseGArg [R]2386
contig referenceAGln [Q]2386
734494361204 rs755564892 0.000 missenseTIle [I]2387
contig referenceCThr [T]2387
734494371205 rs745967306 N.D. synonymousCThr [T]3387
contig referenceTThr [T]3387
734494391207 rs1199122942 N.D. missenseTVal [V]2388
contig referenceAGlu [E]2388
734494421210 rs1258640245 N.D. missenseTIle [I]2389
contig referenceAAsn [N]2389
734494431211 rs765812136 0.000 missenseALys [K]3389
synonymousTAsn [N]3389
contig referenceCAsn [N]3389
734494441212 rs753811251 0.000byFreq missenseTSer [S]1390
contig referenceCPro [P]1390
734494461214 rs1346260152 N.D. synonymousAPro [P]3390
contig referenceTPro [P]3390
734494471215 rs373915432 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGVal [V]1391
missenseTPhe [F]1391
contig referenceCLeu [L]1391
734494531221 rs747909610 0.000byFreq missenseASer [S]1393
contig referenceTCys [C]1393
734494551223 rs758289615 0.000byFreq nonsenseA3393
synonymousTCys [C]3393
contig referenceCCys [C]3393
734494571225 rs1306157782 N.D. missenseCPro [P]2394
contig referenceAGln [Q]2394
734494581226 rs781503568 0.000 missenseCHis [H]3394
synonymousGGln [Q]3394
contig referenceAGln [Q]3394
734494611229 rs775901894 N.D. missenseGGlu [E]3395
contig referenceTAsp [D]3395
734494641232 rs1387492982 N.D. missenseCAsn [N]3396
contig referenceALys [K]3396
734500361236 rs768806203 0.000 missenseALys [K]1398
contig referenceGGlu [E]1398
734500371237 rs774664708 0.000 missenseTVal [V]2398
contig referenceAGlu [E]2398
734500411241 rs1247209583 N.D. synonymousGGlu [E]3399
contig referenceAGlu [E]3399
734500451245 rs1424287693 N.D. synonymousCLeu [L]1401
contig referenceTLeu [L]1401
734500501250 rs952491417 N.D. synonymousAGln [Q]3402
contig referenceGGln [Q]3402
734500521252 rs748660949 0.000 missenseGArg [R]2403
missenseTIle [I]2403
contig referenceALys [K]2403
734500551255 rs1366778163 N.D. missenseGCys [C]2404
contig referenceATyr [Y]2404
734500561256 rs772421585 0.000 synonymousTTyr [Y]3404
contig referenceCTyr [Y]3404
734500581258 rs749624799 0.000 frame shift-Thr [T]2405
contig referenceTIle [I]2405
734500631263 rs773624608 0.000 nonsenseT1407
missenseALys [K]1407
contig referenceGGlu [E]1407
734500651265 rs1391027300 N.D. synonymousAGlu [E]3407
contig referenceGGlu [E]3407
734500681268 rs771581474 0.000byFreq frame shift-Lys [K]3409
contig referenceCGln [Q]3409
734500691269 rs142607267 0.000byCluster YesmissenseGGlu [E]1409
contig referenceCGln [Q]1409
734500721272 rs1020722404 N.D. missenseAThr [T]1410
contig referenceGAla [A]1410
734500731273 rs770450024 0.000 missenseGGly [G]2410
contig referenceCAla [A]2410
734500751275 rs569355487 0.000byFreqWith1000GenomeData0.0002 synonymousCLeu [L]1411
contig referenceTLeu [L]1411
734500791279 rs927059495 N.D. missenseGGly [G]2412
contig referenceCAla [A]2412
734500831283 rs758910782 0.000byFreq synonymousALys [K]3413
contig referenceGLys [K]3413
734500841284 rs374322791 0.000byCluster YesnonsenseT1414
missenseGGly [G]1414
contig referenceCArg [R]1414
734500851285 rs764805129 0.000 missenseAGln [Q]2414
contig referenceGArg [R]2414
734500881288 rs1232082254 N.D. missenseAAsn [N]2415
contig referenceGSer [S]2415
734500891289 rs150964344 0.000byClusterbyFreq YessynonymousTSer [S]3415
contig referenceCSer [S]3415
734500911291 rs1381757835 N.D. missenseATyr [Y]2416
contig referenceGCys [C]2416
734500921292 rs200050605 0.000byClusterbyFreq YesnonsenseA3416
synonymousTCys [C]3416
contig referenceCCys [C]3416
734500931293 rs751444406 0.000 missenseASer [S]1417
contig referenceGGly [G]1417
734501031303 rs1267228670 N.D. missenseGArg [R]2420
contig referenceAGln [Q]2420
734501041304 rs1483484643 N.D. missenseTHis [H]3420
contig referenceGGln [Q]3420
734501091309 rs1447932122 N.D. missenseCPro [P]2422
contig referenceTLeu [L]2422
734501111311 rs757110998 0.000 missenseCArg [R]1423
contig referenceGGly [G]1423
734501211321 rs1041627000 N.D. missenseGCys [C]2426
contig referenceATyr [Y]2426
734501261326 rs1423183809 N.D. nonsenseT1428
missenseALys [K]1428
contig referenceCGln [Q]1428
734501331333 rs367853668 0.000byClusterbyFreq YesmissenseAGlu [E]2430
missenseTVal [V]2430
contig referenceCAla [A]2430
734506211340 rs181827990 0.000byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTLeu [L]3432
contig referenceCLeu [L]3432
734506221341 rs779308321 0.000byFreq missenseAIle [I]1433
contig referenceGVal [V]1433
734506281347 rs1256090363 N.D. missenseGAsp [D]1435
contig referenceTTyr [Y]1435
734506311350 rs754004856 0.000 missenseGAla [A]1436
contig referenceAThr [T]1436
734506371356 rs1407538506 N.D. missenseGGlu [E]1438
contig referenceALys [K]1438
734506401359 rs759754008 0.000byCluster frame shiftCPro [P]1441
contig reference-Gln [Q]1441
734506451364 rs746056920 0.000byFreq synonymousAPro [P]3440
synonymousTPro [P]3440
contig referenceCPro [P]3440
734506511370 rs1220624111 N.D. synonymousALeu [L]3442
contig referenceGLeu [L]3442
734506521371 rs752733533 0.000 missenseGAla [A]1443
missenseTSer [S]1443
contig referenceAThr [T]1443
734506541373 rs758495999 0.000 synonymousGThr [T]3443
contig referenceCThr [T]3443
734506561375 rs374243731 N.D.byCluster YesmissenseTLeu [L]2444
contig referenceCSer [S]2444
734506571376 rs772093482 N.D. synonymousASer [S]3444
contig referenceGSer [S]3444
734506581377 rs567239570 0.000With1000GenomeData0.0002 missenseCPro [P]1445
contig referenceTSer [S]1445
734506591378 rs140788572 0.000byClusterbyFreq YesmissenseTLeu [L]2445
contig referenceCSer [S]2445
734506601379 rs1894264 0.018byClusterbyFreqWith1000GenomeData0.0349 YessynonymousASer [S]3445
synonymousASer [S]3445
contig referenceGSer [S]3445
contig referenceGSer [S]3445
734506641383 rs199981870 0.000byClusterbyFreq YessynonymousTLeu [L]1447
contig referenceCLeu [L]1447
734506691388 rs745483479 0.000 missenseCIle [I]3448
contig referenceGMet [M]3448
734506711390 rs1242357916 N.D. missenseTVal [V]2449
contig referenceCAla [A]2449
734506731392 rs769606924 0.000 missenseGVal [V]1450
contig referenceAIle [I]1450
734506751394 rs1339752756 N.D. synonymousTIle [I]3450
contig referenceCIle [I]3450
734506761395 rs775317666 0.000 missenseGAla [A]1451
contig referenceAThr [T]1451
734506771396 rs138531623 0.001byClusterbyFreqWith1000GenomeData0.0018 YesmissenseAAsn [N]2451
missenseGSer [S]2451
missenseTIle [I]2451
contig referenceCThr [T]2451
734506781397 rs140208686 0.005byClusterbyFreqWith1000GenomeData0.0036 YessynonymousTThr [T]3451
contig referenceCThr [T]3451
734506791398 rs867961638 N.D. missenseGGly [G]1452
contig referenceAArg [R]1452
734506831402 rs774093358 0.000 missenseGArg [R]2453
contig referenceALys [K]2453
734506841403 rs761878353 0.000byFreq missenseTAsn [N]3453
contig referenceALys [K]3453
734506881407 rs142451188 N.D.With1000GenomeData Yesframe shiftCSer [S]1456
contig reference-Ala [A]1456
734506891408 rs767203624 0.000 missenseTVal [V]2455
contig referenceCAla [A]2455
734506921411 rs773110348 0.000byFreq missenseGGly [G]2456
contig referenceCAla [A]2456
734506971416 rs1438136404 N.D. missenseCPro [P]1458
contig referenceGAla [A]1458
734507001419 rs759647503 0.000 missenseTSer [S]1459
contig referenceGAla [A]1459
734507111430 rs538791554 0.000byFreqWith1000GenomeData0.0010 synonymousTCys [C]3462
contig referenceCCys [C]3462
734507141433 rs145185829 0.001byClusterbyFreq YessynonymousGGln [Q]3463
contig referenceAGln [Q]3463
734507171436 rs186121476 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTLeu [L]3464
contig referenceCLeu [L]3464
734507241443 rs1339918878 N.D. missenseAAsn [N]1467
contig referenceGAsp [D]1467
734507271446 rs777067976 0.000byClusterbyFreq missenseGGlu [E]1468
contig referenceALys [K]1468
734507291448 rs751992837 0.000byFreq missenseCAsn [N]3468
contig referenceALys [K]3468
734507331452 rs757829039 0.000byFreq synonymousCLeu [L]1470
contig referenceTLeu [L]1470
734507331452 rs767689127 0.000 frame shift-Trp [W]1470
contig referenceTLeu [L]1470
734507361455 rs369442700 0.000byCluster YesmissenseAThr [T]1471
contig referenceGAla [A]1471
734507371456 rs746207564 0.000byFreq missenseTVal [V]2471
contig referenceCAla [A]2471
734507431462 rs756571570 0.000 missenseCAla [A]2473
contig referenceGGly [G]2473
734507441463 rs115622472 0.003byClusterbyFreqWith1000GenomeData0.0044 YessynonymousTGly [G]3473
contig referenceCGly [G]3473
734507451464 rs748956575 0.000 missenseALys [K]1474
contig referenceGGlu [E]1474
734507471466 rs775827658 0.000 frame shift-Glu [E]3475
contig referenceGGly [G]3475
734507481467 rs149411760 0.000byCluster YesmissenseAArg [R]1475
contig referenceGGly [G]1475
734507501469 rs773971129 0.000 synonymousGGly [G]3475
contig referenceAGly [G]3475
734507521471 rs376466369 0.000byClusterbyFreq YesmissenseTVal [V]2476
contig referenceCAla [A]2476
734507531472 rs772087967 0.000byFreq synonymousAAla [A]3476
contig referenceGAla [A]3476
734524011473 rs367619656 0.000byCluster YesmissenseAThr [T]1477
contig referenceGAla [A]1477
734524051477 rs575434800 0.000byFreqWith1000GenomeData0.0002 missenseGGly [G]2478
contig referenceAAsp [D]2478
734524071479 rs1329586864 N.D. missenseGVal [V]1479
contig referenceAIle [I]1479
734524101482 rs1351233294 N.D. missenseGVal [V]1480
contig referenceAIle [I]1480
734524111483 rs1420244947 N.D. missenseAAsn [N]2480
contig referenceTIle [I]2480
734524151487 rs371460704 0.000byClusterbyFreq YessynonymousTIle [I]3481
contig referenceCIle [I]3481
734524161488 rs200196094 0.000byClusterbyFreq YesmissenseAArg [R]1482
contig referenceGGly [G]1482
734524171489 rs1350232802 N.D. missenseAGlu [E]2482
contig referenceGGly [G]2482
734524181490 rs144799463 0.001byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGGly [G]3482
contig referenceAGly [G]3482
734524211493 rs368477992 0.000byCluster YesmissenseGGln [Q]3483
contig referenceCHis [H]3483
734524321504 rs1200555674 N.D. missenseTIle [I]2487
contig referenceGArg [R]2487
734524331505 rs376621037 N.D.byCluster YesmissenseTSer [S]3487
contig referenceAArg [R]3487
734524351507 rs770698874 0.000 missenseGArg [R]2488
contig referenceAHis [H]2488
734524381510 rs776455064 0.000byFreq missenseCAla [A]2489
contig referenceAGlu [E]2489
734524411513 rs781677139 N.D. missenseCThr [T]2490
contig referenceTMet [M]2490
734524421514 rs148131848 0.000 YesmissenseTIle [I]3490
contig referenceGMet [M]3490
734524431515 rs1483131512 N.D. missenseTSer [S]1491
contig referenceAThr [T]1491
734524441516 rs1267236142 N.D. missenseAAsn [N]2491
contig referenceCThr [T]2491
734524481520 rs554975760 0.000byFreqWith1000GenomeData0.0002 synonymousTPro [P]3492
contig referenceAPro [P]3492
734524551527 rs768879876 0.000 missenseTSer [S]1495
contig referenceCPro [P]1495
734524581530 rs372972529 0.000byCluster YesmissenseASer [S]1496
contig referenceGGly [G]1496
734524591531 rs201210663 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseAAsp [D]2496
contig referenceGGly [G]2496
734524601532 rs35920062 0.094byClusterbyFreqWith1000GenomeData0.0256 YessynonymousCGly [G]3496
contig referenceTGly [G]3496
734524641536 rs1432756735 N.D. missenseASer [S]1498
contig referenceGGly [G]1498
734524761548 rs750965089 0.000 missenseGAla [A]1502
contig referenceAThr [T]1502
734524771549 rs761323586 0.000 missenseGSer [S]2502
contig referenceCThr [T]2502
734524811553 rs1315930377 N.D. synonymousCSer [S]3503
contig referenceTSer [S]3503
734524841556 rs755816167 0.000byClusterbyFreq synonymousGSer [S]3504
contig referenceASer [S]3504
734524911563 rs1306274042 N.D. missenseTTyr [Y]1507
contig referenceAAsn [N]1507
734524921564 rs754296052 0.000 missenseCThr [T]2507
contig referenceAAsn [N]2507
734524931565 rs1224990898 N.D. missenseALys [K]3507
contig referenceCAsn [N]3507
734525051577 rs200600473 0.000byClusterbyFreq YessynonymousTCys [C]3511
contig referenceCCys [C]3511
734525211593 rs1276941707 N.D. missenseAMet [M]1517
contig referenceGVal [V]1517
734525241596 rs1343373992 N.D. missenseAAsn [N]1518
contig referenceGAsp [D]1518
734525291601 rs778568059 0.000 synonymousGGlu [E]3519
contig referenceAGlu [E]3519
734525341606 rs1400528054 N.D. missenseGCys [C]2521
contig referenceATyr [Y]2521
734525351607 rs1056806513 N.D. synonymousCTyr [Y]3521
contig referenceTTyr [Y]3521
734525371609 rs1414586654 N.D. missenseCAla [A]2522
contig referenceTVal [V]2522
734525381610 rs1290685955 N.D. synonymousTVal [V]3522
contig referenceCVal [V]3522
734525391611 rs1276062640 N.D. missenseAThr [T]1523
contig referenceCPro [P]1523
734525431615 rs150629509 0.000byClusterbyFreq YesmissenseTLeu [L]2524
contig referenceCPro [P]2524
734525451617 rs1206611154 N.D. missenseAThr [T]1525
contig referenceGAla [A]1525
734525471619 rs1247836085 N.D. synonymousGAla [A]3525
contig referenceAAla [A]3525
734525501622 rs757920959 0.000 synonymousTPhe [F]3526
contig referenceCPhe [F]3526
734525531625 rs771100117 N.D. synonymousASer [S]3527
contig referenceTSer [S]3527
734525551627 rs777205441 0.000byFreq missenseGGly [G]2528
missenseTVal [V]2528
contig referenceAAsp [D]2528
734525651637 rs770891066 0.000 missenseGLeu [L]3531
contig referenceCPhe [F]3531
734525661638 rs781136890 0.000 missenseGVal [V]1532
contig referenceAIle [I]1532
734525701642 rs1177353910 N.D. missenseCSer [S]2533
contig referenceTPhe [F]2533
734525711643 rs745610100 0.000byFreq missenseGLeu [L]3533
contig referenceCPhe [F]3533
734525731645 rs775316747 N.D. missenseTLeu [L]2534
contig referenceAHis [H]2534
734525751647 rs191136122 0.000byClusterWith1000GenomeData0.0002 YesmissenseGGlu [E]1535
contig referenceALys [K]1535
734525761648 rs183385957 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGArg [R]2535
contig referenceALys [K]2535
734525771649 rs762012075 0.000 synonymousALys [K]3535
contig referenceGLys [K]3535
734525791651 rs140758670 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseTVal [V]2536
contig referenceAAsp [D]2536
734525801652 rs1395912806 N.D. missenseAGlu [E]3536
contig referenceTAsp [D]3536
734525831655 rs1387544196 N.D. synonymousALeu [L]3537
contig referenceGLeu [L]3537
734525861658 rs746803376 N.D. synonymousTCys [C]3538
contig referenceCCys [C]3538
734525911663 rs773475733 0.000 missenseTVal [V]2540
contig referenceCAla [A]2540
734525931665 rs144607501 0.000byClusterbyFreq YesmissenseALys [K]1541
contig referenceCGln [Q]1541
734525981670 rs1264529893 N.D. synonymousAGly [G]3542
contig referenceTGly [G]3542
734526031675 rs369625484 0.000byClusterbyFreq YesmissenseTVal [V]2544
contig referenceCAla [A]2544
734526041676 rs147439366 0.000byClusterbyFreq YessynonymousAAla [A]3544
contig referenceGAla [A]3544
734526121684 rs114970091 0.002byClusterbyFreqWith1000GenomeData0.0022 YesmissenseALys [K]2547
missenseTMet [M]2547
contig referenceCThr [T]2547
734526131685 rs4235117 0.012byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0230 synonymousAThr [T]3547
synonymousTThr [T]3547
contig referenceGThr [T]3547
734526161688 rs758034904 0.000byFreq missenseTIle [I]3548
contig referenceGMet [M]3548
734526191691 rs1262262551 N.D. synonymousALys [K]3549
contig referenceGLys [K]3549
734526201692 rs548331146 0.001byFreqWith1000GenomeData0.0008 missenseGGlu [E]1550
contig referenceCGln [Q]1550
734526231695 rs191300110 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseT1551