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SNP linked to Gene (geneID:1113) 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): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_011536370.1plus strandXP_011534672.1forwardNT_026437.13GRCh38.p7<- currently shown
NM_001301690.1plus strandNP_001288619.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
NM_001275.3plus strandNP_001266.1forwardNT_026437.13GRCh38.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_026437.13XM_011536370.1XP_011534672.1forwardplus strand540, 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
92923360261 rs1025129380 N.D. missenseTLeu [L]11
contig referenceAMet [M]11
92923363264 rs1454790617 N.D. missenseTCys [C]12
contig referenceCArg [R]12
92923364265 rs971618106 N.D. missenseAHis [H]22
contig referenceGArg [R]22
92923366267 rs1388604664 N.D. missenseCPro [P]13
contig referenceTSer [S]13
92923368269 rs1476495971 N.D. synonymousTSer [S]33
contig referenceCSer [S]33
92923369270 rs1267310048 N.D. missenseAThr [T]14
contig referenceGAla [A]14
92923370271 rs1168350503 N.D. missenseTVal [V]24
contig referenceCAla [A]24
92923372273 rs1389731915 N.D. missenseAThr [T]15
contig referenceGAla [A]15
92923376277 rs902552733 N.D. missenseGGly [G]26
contig referenceTVal [V]26
92923377278 rs1481160642 N.D. synonymousGVal [V]36
contig referenceCVal [V]36
92923380281 rs999996651 N.D. synonymousALeu [L]37
contig referenceGLeu [L]37
92923381282 rs1053903905 N.D. missenseTSer [S]18
contig referenceGAla [A]18
92923382283 rs1307097222 N.D. missenseTVal [V]28
contig referenceCAla [A]28
92923395296 rs1263837596 N.D. nonsenseA312
contig referenceCCys [C]312
92923397298 rs1403330655 N.D. missenseTVal [V]213
contig referenceCAla [A]213
92924203311 rs1418544626 N.D. synonymousCThr [T]317
contig referenceTThr [T]317
92924204312 rs193292809 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAThr [T]118
contig referenceGAla [A]118
92924205313 rs1318028195 N.D. missenseTVal [V]218
contig referenceCAla [A]218
92924206314 rs9658640 0.000byCluster synonymousAAla [A]318
contig referenceGAla [A]318
92924207315 rs1234802262 N.D. missenseTPhe [F]119
contig referenceCLeu [L]119
92924213321 rs746649000 0.000byFreq missenseAMet [M]121
missenseCLeu [L]121
contig referenceGVal [V]121
92924218326 rs1333134481 N.D. synonymousTAsn [N]322
contig referenceCAsn [N]322
92924219327 rs1244141888 N.D. missenseTCys [C]123
contig referenceASer [S]123
92924220328 rs1338288228 N.D. missenseAAsn [N]223
contig referenceGSer [S]223
92924222330 rs776244150 0.000 missenseGAla [A]124
contig referenceCPro [P]124
92924224332 rs759142641 0.000 synonymousAPro [P]324
contig referenceTPro [P]324
92924225333 rs149847247 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGVal [V]125
missenseTLeu [L]125
contig referenceAMet [M]125
92924226334 rs1228303728 N.D. missenseALys [K]225
contig referenceTMet [M]225
92924227335 rs1225308236 N.D. missenseAIle [I]325
contig referenceGMet [M]325
92924230338 rs1052004418 N.D. missenseALys [K]326
contig referenceTAsn [N]326
92924231339 rs770656863 0.000byCluster frame shift-Ile [I]129
contig referenceAAsp [D]129
92924233341 rs1300349953 N.D. missenseTAsn [N]327
contig referenceALys [K]327
92924237345 rs1224120649 N.D. missenseAAsn [N]129
contig referenceGAsp [D]129
92924238346 rs553495034 0.000With1000GenomeData0.0002 missenseTVal [V]229
contig referenceAAsp [D]229
92924241349 rs763437494 0.000 missenseTIle [I]230
contig referenceCThr [T]230
92924242350 rs764506336 0.000 synonymousAThr [T]330
synonymousTThr [T]330
contig referenceCThr [T]330
92924243351 rs751919215 0.000byFreq missenseALys [K]131
contig referenceGGlu [E]131
92924245353 rs762066491 0.000 synonymousAGlu [E]331
contig referenceGGlu [E]331
92926607356 rs936527261 N.D. synonymousAVal [V]332
contig referenceGVal [V]332
92926609358 rs1482625806 N.D. missenseGArg [R]233
contig referenceTMet [M]233
92926619368 rs376854650 0.000byCluster synonymousTIle [I]336
contig referenceCIle [I]336
92926620369 rs770661498 0.000 missenseAIle [I]137
missenseCLeu [L]137
contig referenceGVal [V]137
92926625374 rs781008741 0.000 synonymousAGlu [E]338
contig referenceGGlu [E]338
92926626375 rs556703425 0.000With1000GenomeData0.0002 missenseAIle [I]139
contig referenceGVal [V]139
92926634383 rs769428586 0.000byFreq synonymousTSer [S]341
contig referenceCSer [S]341
92926635384 rs147517274 0.000byClusterbyFreq missenseAAsn [N]142
contig referenceGAsp [D]142
92926637386 rs140054528 0.000byClusterbyFreq missenseAGlu [E]342
synonymousTAsp [D]342
contig referenceCAsp [D]342
92926641390 rs144321854 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseAIle [I]144
contig referenceCLeu [L]144
92926642391 rs1369511041 N.D. missenseCPro [P]244
contig referenceTLeu [L]244
92926645394 rs527243791 0.000byClusterbyFreq missenseTPhe [F]245
contig referenceCSer [S]245
92926646395 rs762095910 0.000 synonymousTSer [S]345
contig referenceCSer [S]345
92926649398 rs1368586435 N.D. synonymousALys [K]346
contig referenceGLys [K]346
92926650399 rs767658123 0.000 missenseTSer [S]147
contig referenceCPro [P]147
92926655404 rs750639497 0.000 missenseAArg [R]348
synonymousTSer [S]348
contig referenceCSer [S]348
92926664413 rs545457270 0.000With1000GenomeData0.0002 synonymousCPro [P]351
contig referenceTPro [P]351
92926665414 rs778194347 0.000byCluster missenseAIle [I]152
contig referenceGVal [V]152
92926673422 rs753901681 0.000 synonymousAGln [Q]354
contig referenceGGln [Q]354
92926674423 rs1400900823 N.D. missenseALys [K]155
contig referenceGGlu [E]155
92926677426 rs1236539449 N.D. missenseCArg [R]156
contig referenceTCys [C]156
92926679428 rs564940808 0.000With1000GenomeData0.0002 synonymousCCys [C]356
contig referenceTCys [C]356
92926680429 rs527639295 0.000With1000GenomeData0.0002 missenseCLeu [L]157
contig referenceTPhe [F]157
92926689438 rs1341698372 N.D. missenseTPhe [F]160
contig referenceCLeu [L]160
92926691440 rs777595600 0.000byFreq synonymousGLeu [L]360
contig referenceCLeu [L]360
92926692441 rs751314415 0.000byFreq nonsenseT161
synonymousAArg [R]161
contig referenceCArg [R]161
92926693442 rs3742712 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]261
contig referenceGArg [R]261
92926697446 rs1209179776 N.D. synonymousGGly [G]362
contig referenceAGly [G]362
92927555453 rs776721726 0.000byFreq missenseTTrp [W]165
contig referenceCArg [R]165
92927556454 rs1419746746 N.D. missenseAGln [Q]265
contig referenceGArg [R]265
92927560458 rs759549612 0.000byFreq synonymousAIle [I]366
contig referenceCIle [I]366
92927566464 rs764026872 0.000 synonymousTSer [S]368
contig referenceCSer [S]368
92927573471 rs751448048 0.000 nonsenseT171
contig referenceAArg [R]171
92927577475 rs1463472942 N.D. missenseGArg [R]272
contig referenceAHis [H]272
92927578476 rs757322392 0.000 missenseGGln [Q]372
contig referenceTHis [H]372
92927579477 rs1393364865 N.D. missenseGGlu [E]173
contig referenceCGln [Q]173
92927580478 rs767402828 0.000 missenseGArg [R]273
missenseTLeu [L]273
contig referenceAGln [Q]273
92927581479 rs868674814 N.D. synonymousAGln [Q]373
contig referenceGGln [Q]373
92927584482 rs1010301193 N.D. synonymousCAsn [N]374
contig referenceTAsn [N]374
92927590488 rs1399973994 N.D. synonymousALeu [L]376
contig referenceGLeu [L]376
92927594492 rs1395422852 N.D. missenseALys [K]178
contig referenceGGlu [E]178
92927595493 rs750287019 0.000 missenseGGly [G]278
contig referenceAGlu [E]278
92927601499 rs1290885755 N.D. missenseGArg [R]280
contig referenceAGln [Q]280
92927604502 rs755791000 0.000byFreq missenseCAla [A]281
contig referenceAAsp [D]281
92927608506 rs779598314 0.000byFreq synonymousTLeu [L]382
contig referenceCLeu [L]382
92927609507 rs372495668 0.000byClusterbyFreq missenseAThr [T]183
contig referenceGAla [A]183
92927614512 rs754438518 0.000 synonymousTLeu [L]384
contig referenceCLeu [L]384
92927615513 rs1233805788 N.D. nonsenseT185
contig referenceCGln [Q]185
92927618516 rs1020356557 N.D. missenseCArg [R]186
contig referenceGGly [G]186
92929718518 rs753415578 0.000byFreq synonymousTGly [G]386
contig referenceCGly [G]386
92929718518 rs1220839820 N.D. -387
92929719519 rs200937569 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAThr [T]187
contig referenceGAla [A]187
92929720520 rs778254819 0.000 missenseAAsp [D]287
contig referenceCAla [A]287
92929724524 rs747687564 0.000byFreq synonymousALys [K]388
contig referenceGLys [K]388
92929726526 rs9658650 0.000byClusterbyFreq missenseGGly [G]289
contig referenceAGlu [E]289
92929729529 rs778264226 0.000 missenseALys [K]290
missenseCThr [T]290
contig referenceGArg [R]290
92929730530 rs369711214 0.000byCluster synonymousAArg [R]390
contig referenceGArg [R]390
92929732532 rs771196265 0.000 missenseTVal [V]291
contig referenceCAla [A]291
92929737537 rs762065218 0.000 -194
92929739539 rs1486326503 N.D. missenseCHis [H]393
contig referenceGGln [Q]393
92929742542 rs9658651 0.001byClusterbyFreqWith1000GenomeData0.0006 synonymousAGln [Q]394
contig referenceGGln [Q]394
92929748548 rs746055635 0.000 synonymousGLys [K]396
contig referenceALys [K]396
92929751551 rs1044654737 N.D. missenseGGln [Q]397
contig referenceCHis [H]397
92929753553 rs77938104 0.011byClusterbyFreqWith1000GenomeData0.0026 missenseAAsn [N]298
contig referenceGSer [S]298
92929754554 rs150929444 0.000byClusterbyFreq synonymousTSer [S]398
contig referenceCSer [S]398
92929755555 rs763150530 0.000byFreq missenseASer [S]199
contig referenceGGly [G]199
92929763563 rs772080100 0.000 synonymousGGlu [E]3101
contig referenceAGlu [E]3101
92929764564 rs773275474 0.000 missenseAAsn [N]1102
contig referenceGAsp [D]1102
92929766566 rs1327908439 N.D. missenseGGlu [E]3102
synonymousCAsp [D]3102
contig referenceTAsp [D]3102
92929770570 rs940391131 N.D. missenseTPhe [F]1104
contig referenceCLeu [L]1104
92929772572 rs1333980245 N.D. synonymousGLeu [L]3104
contig referenceCLeu [L]3104
92929779579 rs539889244 0.000byFreqWith1000GenomeData0.0002 missenseCLeu [L]1107
missenseTPhe [F]1107
contig referenceGVal [V]1107
92929784584 rs766061758 0.000 synonymousCLeu [L]3108
synonymousGLeu [L]3108
contig referenceTLeu [L]3108
92929786586 rs1369620273 N.D. missenseGGly [G]2109
contig referenceAGlu [E]2109
92929790590 rs753703843 0.000 synonymousTAsn [N]3110
contig referenceCAsn [N]3110
92929792592 rs1305203143 N.D. missenseCPro [P]2111
contig referenceAGln [Q]2111
92929799599 rs1006305003 N.D. missenseGArg [R]3113
contig referenceCSer [S]3113
92929804604 rs759070625 0.000 missenseAAsp [D]2115
contig referenceCAla [A]2115
92929805605 rs1348126788 N.D. synonymousAAla [A]3115
synonymousGAla [A]3115
synonymousTAla [A]3115
contig referenceCAla [A]3115
92929806606 rs1485713025 N.D. missenseALys [K]1116
contig referenceGGlu [E]1116
92929809609 rs764964442 0.000 missenseGVal [V]1117
contig referenceCLeu [L]1117
92931251617 rs1394593657 N.D. synonymousAGlu [E]3119
contig referenceGGlu [E]3119
92931253619 rs749496889 0.000 missenseTVal [V]2120
contig referenceCAla [A]2120
92931254620 rs755288105 0.000byFreq synonymousAAla [A]3120
contig referenceGAla [A]3120
92931256622 rs779091774 0.000byFreq missenseCAla [A]2121
contig referenceTVal [V]2121
92931263629 rs1405629100 N.D. synonymousAGlu [E]3123
contig referenceGGlu [E]3123
92931273639 rs1433383030 N.D. missenseCGln [Q]1127
contig referenceALys [K]1127
92931274640 rs1279231240 N.D. missenseGArg [R]2127
contig referenceALys [K]2127
92931275641 rs748282255 0.000byFreq synonymousALys [K]3127
contig referenceGLys [K]3127
92931278644 rs9658653 0.006byClusterbyFreqWith1000GenomeData0.0074 synonymousCAsp [D]3128
contig referenceTAsp [D]3128
92931283649 rs776633402 0.000 missenseCThr [T]2130
missenseGArg [R]2130
contig referenceTMet [M]2130
92931287653 rs777027961 N.D. synonymousAGlu [E]3131
contig referenceGGlu [E]3131
92931291657 rs750573764 0.000 frame shift-Gly [G]1134
contig referenceAGGlu [E]1134
92931294660 rs745861727 0.000 missenseCGln [Q]1134
contig referenceGGlu [E]1134
92931296662 rs769565027 0.000byFreq missenseCAsp [D]3134
contig referenceGGlu [E]3134
92931302668 rs775314152 0.000 synonymousTSer [S]3136
contig referenceCSer [S]3136
92931306672 rs1445160522 N.D. missenseALys [K]1138
contig referenceGGlu [E]1138
92931309675 rs140821122 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseTSer [S]1139
contig referenceGAla [A]1139
92931310676 rs150148299 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseTVal [V]2139
contig referenceCAla [A]2139
92931311677 rs376742669 0.000byCluster synonymousGAla [A]3139
contig referenceAAla [A]3139
92931312678 rs761402294 0.000 missenseCGln [Q]1140
contig referenceGGlu [E]1140
92931322688 rs1268405380 N.D. missenseAAsp [D]2143
missenseTVal [V]2143
contig referenceGGly [G]2143
92931323689 rs767848158 0.000byFreq synonymousCGly [G]3143
contig referenceTGly [G]3143
92931324690 rs750925839 0.000byFreq missenseALys [K]1144
contig referenceGGlu [E]1144
92931326692 rs1156275782 N.D. missenseCAsp [D]3144
contig referenceAGlu [E]3144
92931328694 rs1386772514 N.D. missenseTVal [V]2145
contig referenceCAla [A]2145
92931329695 rs17847012 N.D. synonymousGAla [A]3145
contig referenceCAla [A]3145
92931335701 rs567354524 0.000byFreqWith1000GenomeData0.0002 synonymousTAsp [D]3147
contig referenceCAsp [D]3147
92931340706 rs1355231200 N.D. frame shift-Gly [G]2150
contig referenceCArg [R]2150
92931341707 rs1264868299 N.D. synonymousGAla [A]3149
contig referenceCAla [A]3149
92931343709 rs1239035322 N.D. GCCPro [P]2151
92931349715 rs988620296 N.D. missenseGArg [R]2152
contig referenceAGln [Q]2152
92931351717 rs754281765 0.000 missenseCPro [P]1153
contig referenceGAla [A]1153
92931355721 rs1295681021 N.D. missenseCPro [P]2154
contig referenceTLeu [L]2154
92931358724 rs755202160 0.000byFreq missenseTLeu [L]2155
contig referenceCPro [P]2155
92931359725 rs779208725 0.000byFreq synonymousAPro [P]3155
contig referenceGPro [P]3155
92931362728 rs1450954778 N.D. synonymousAGlu [E]3156
contig referenceGGlu [E]3156
92931367733 rs1259034410 N.D. missenseCThr [T]2158
contig referenceTMet [M]2158
92931374740 rs748107755 0.000byFreq missenseTAsp [D]3160
synonymousAGlu [E]3160
contig referenceGGlu [E]3160
92931379745 rs1217638865 N.D. missenseGArg [R]2162
contig referenceALys [K]2162
92931381747 rs777775128 0.000byFreq missenseCPro [P]1163
contig referenceGAla [A]1163
92931383749 rs144862632 0.000byClusterbyFreq synonymousCAla [A]3163
contig referenceTAla [A]3163
92931386752 rs1189738265 N.D. frame shift-Thr [T]3166
contig referenceGAsn [N]3166
92931387753 rs769762955 0.000 missenseAArg [R]1165
missenseCArg [R]1165
contig referenceGGly [G]1165
92931389755 rs138696811 0.000byClusterbyFreq synonymousAGly [G]3165
synonymousCGly [G]3165
contig referenceGGly [G]3165
92931392758 rs556109764 0.000With1000GenomeData0.0002 missenseALys [K]3166
contig referenceCAsn [N]3166
92931396762 rs575865271 0.000With1000GenomeData0.0002 missenseALys [K]1168
contig referenceCGln [Q]1168
92931397763 rs1453770652 N.D. missenseGArg [R]2168
contig referenceAGln [Q]2168
92931400766 rs946677734 N.D. missenseTVal [V]2169
contig referenceCAla [A]2169
92931403769 rs1387015519 N.D. missenseGArg [R]2170
contig referenceCPro [P]2170
92931410776 rs774060250 0.000byFreq synonymousAGlu [E]3172
contig referenceGGlu [E]3172
92931411777 rs1396803478 N.D. missenseALys [K]1173
contig referenceGGlu [E]1173
92931413779 rs751677843 0.005byFreq GAGGlu [E]3179
92931414780 rs145227561 N.D.byClusterWith1000GenomeData -1179
92931414780 rs756187280 0.000 -1177
92931414780 rs766510712 0.003 -1178
92931414780 rs1437828567 N.D. missenseALys [K]1174
contig referenceGGlu [E]1174
92931416782 rs761441888 0.000byFreq missenseCAsp [D]3174
synonymousAGlu [E]3174
contig referenceGGlu [E]3174
92931418784 rs544894375 0.000With1000GenomeData0.0002 missenseGGly [G]2175
contig referenceAGlu [E]2175
92931419785 rs761219395 0.000 synonymousAGlu [E]3175
contig referenceGGlu [E]3175
92931420786 rs9658654 0.003byClusterbyFreqWith1000GenomeData0.0062 missenseALys [K]1176
contig referenceGGlu [E]1176
92931422788 rs754195897 0.000 synonymousAGlu [E]3176
contig referenceGGlu [E]3176
92931428794 rs755398500 0.000byClusterbyFreq missenseTAsp [D]3178
contig referenceGGlu [E]3178
92931434800 rs1240910112 N.D. synonymousTAla [A]3180
contig referenceCAla [A]3180
92931436802 rs1302975723 N.D. missenseTIle [I]2181
contig referenceCThr [T]2181
92931437803 rs765584956 0.000 synonymousAThr [T]3181
contig referenceCThr [T]3181
92931441807 rs1029637941 N.D. missenseCPro [P]1183
contig referenceAThr [T]1183
92931442808 rs752949719 0.000 missenseAAsn [N]2183
contig referenceCThr [T]2183
92931443809 rs758599091 0.000 synonymousTThr [T]3183
contig referenceCThr [T]3183
92931445811 rs777878169 0.000byFreq missenseCPro [P]2184
contig referenceAHis [H]2184
92931448814 rs1480156455 N.D. missenseAHis [H]2185
contig referenceCPro [P]2185
92931449815 rs985572219 N.D. synonymousCPro [P]3185
contig referenceTPro [P]3185
92931456822 rs1271136763 N.D. missenseTCys [C]1188
contig referenceASer [S]1188
92931458824 rs751670420 0.000 synonymousTSer [S]3188
contig referenceCSer [S]3188
92931459825 rs1252528521 N.D. missenseTPhe [F]1189
contig referenceCLeu [L]1189
92931462828 rs756000508 0.000byFreq missenseGAla [A]1190
contig referenceCPro [P]1190
92931464830 rs779983956 0.000byFreq synonymousTPro [P]3190
contig referenceCPro [P]3190
92931466832 rs1392925761 N.D. missenseTIle [I]2191
contig referenceGSer [S]2191
92931470836 rs1455300200 N.D. synonymousAGln [Q]3192
contig referenceGGln [Q]3192
92931471837 rs1178761544 N.D. missenseGGlu [E]1193
contig referenceALys [K]1193
92931475841 rs749018702 0.000 missenseTPhe [F]2194
contig referenceATyr [Y]2194
92931477843 rs1461739142 N.D. missenseTSer [S]1195
contig referenceCPro [P]1195
92931484850 rs1296987100 N.D. missenseTLeu [L]2197
contig referenceCPro [P]2197
92931487853 rs1405657479 N.D. missenseCPro [P]2198
contig referenceAGln [Q]2198
92931491857 rs1399195097 N.D. synonymousGAla [A]3199
synonymousTAla [A]3199
contig referenceCAla [A]3199
92931492858 rs768439126 0.000 missenseALys [K]1200
contig referenceGGlu [E]1200
92931495861 rs1325264091 N.D. missenseAArg [R]1201
contig referenceGGly [G]1201
92931497863 rs778618602 0.000 synonymousTGly [G]3201
contig referenceGGly [G]3201
92931498864 rs578186826 0.000byFreqWith1000GenomeData0.0002 missenseCHis [H]1202
contig referenceGAsp [D]1202
92931500866 rs1423890524 N.D. synonymousTAsp [D]3202
contig referenceCAsp [D]3202
92931502868 rs771649968 0.000byFreq missenseCThr [T]2203
contig referenceGSer [S]2203
92931504870 rs1306742618 N.D. missenseALys [K]1204
contig referenceGGlu [E]1204
92931507873 rs772725203 0.000byFreq missenseASer [S]1205
contig referenceGGly [G]1205
92931508874 rs1306175256 N.D. missenseTVal [V]2205
contig referenceGGly [G]2205
92931510876 rs760274611 0.000 missenseAIle [I]1206
contig referenceCLeu [L]1206
92931513879 rs771497770 0.000 missenseCPro [P]1207
contig referenceTSer [S]1207
92931514880 rs777271507 0.000 missenseTPhe [F]2207
contig referenceCSer [S]2207
92931519885 rs1212594265 N.D. missenseASer [S]1209
contig referenceGGly [G]1209
92931520886 rs1250581341 N.D. missenseTVal [V]2209
contig referenceGGly [G]2209
92931524890 rs1169442667 N.D. synonymousALeu [L]3210
contig referenceGLeu [L]3210
92931525891 rs939898262 N.D. missenseAMet [M]1211
contig referenceGVal [V]1211
92931527893 rs1191417410 N.D. synonymousAVal [V]3211
contig referenceGVal [V]3211
92931528894 rs760176658 0.000 missenseCHis [H]1212
contig referenceGAsp [D]1212
92931538904 rs1372178772 N.D. missenseGArg [R]2215
contig referenceALys [K]2215
92931539905 rs1428311488 N.D. synonymousALys [K]3215
contig referenceGLys [K]3215
92931541907 rs574158812 N.D.byCluster missenseCAla [A]2216
contig referenceGGly [G]2216
92931542908 rs765615273 0.000 synonymousAGly [G]3216
contig referenceCGly [G]3216
92931545911 rs753045425 0.000byFreq synonymousALeu [L]3217
contig referenceGLeu [L]3217
92931547913 rs763194632 0.000 missenseAAsn [N]2218
contig referenceGSer [S]2218
92931551917 rs1266118173 N.D. synonymousGAla [A]3219
contig referenceAAla [A]3219
92931555921 rs375389339 0.000byCluster missenseTSer [S]1221
contig referenceCPro [P]1221
92931556922 rs540820228 0.000byFreqWith1000GenomeData0.0002 missenseTLeu [L]2221
contig referenceCPro [P]2221
92931557923 rs1294363969 N.D. synonymousGPro [P]3221
contig referenceAPro [P]3221
92931559925 rs757338290 0.000 missenseCAla [A]2222
missenseTVal [V]2222
contig referenceGGly [G]2222
92931561927 rs1451526612 N.D. missenseAArg [R]1223
contig referenceTTrp [W]1223
92931562928 rs781318641 0.000 nonsenseA2223
contig referenceGTrp [W]2223
92931564930 rs753765800 0.000 missenseALys [K]1224
contig referenceCGln [Q]1224
92931567933 rs544373563 0.000byClusterbyFreq missenseAThr [T]1225
contig referenceGAla [A]1225
92931572938 rs753149011 N.D. missenseCAsn [N]3226
contig referenceGLys [K]3226
92931574940 rs560425894 0.000byFreqWith1000GenomeData0.0002 missenseCThr [T]2227
contig referenceGArg [R]2227
92931574940 rs749156232 0.000 AGAGlu [E]2236
92931578944 rs371452136 0.198byCluster (9bp) [EEE]3236
GAGGlu [E]3236
GAGGAG [EE]3236
92931579945 rs575196921 0.012byClusterbyFreqWith1000GenomeData0.0062 -1236
92931579945 rs746514651 0.000 -1232
92931579945 rs771581788 N.D. -1235
92931579945 rs775033984 N.D. -1234
92931579945 rs1404350121 N.D. -1233
92931581947 rs1263256388 N.D. missenseCAsp [D]3229
contig referenceGGlu [E]3229
92931584950 rs758680953 0.000 synonymousAGlu [E]3230
contig referenceGGlu [E]3230
92931585951 rs138272542 0.000byCluster missenseALys [K]1231
contig referenceGGlu [E]1231
92931587953 rs1336346451 N.D. missenseCAsp [D]3231
contig referenceGGlu [E]3231
92931589955 rs71430778 0.500 missenseTVal [V]2232
contig referenceAGlu [E]2232
92931591957 rs1221593534 N.D. missenseALys [K]1233
contig referenceGGlu [E]1233
92931593959 rs1027951936 N.D. synonymousAGlu [E]3233
contig referenceGGlu [E]3233
92931594960 rs149588126 0.001byClusterbyFreqWith1000GenomeData0.0016 missenseALys [K]1234
contig referenceGGlu [E]1234
92931601967 rs371215355 N.D. -2236
92931606972 rs1484669615 N.D. -1240
92931609975 rs144251489 0.000byClusterbyFreq missenseAThr [T]1239
contig referenceGAla [A]1239
92931618984 rs113881612 0.000 missenseALys [K]1242
contig referenceGGlu [E]1242
92931619985 rs1478316993 N.D. missenseGGly [G]2242
contig referenceAGlu [E]2242
92931620986 rs1187910511 N.D. synonymousAGlu [E]3242
contig referenceGGlu [E]3242
92931622988 rs776328284 0.000 missenseTVal [V]2243
contig referenceCAla [A]2243
92931626992 rs200298276 0.000byClusterWith1000GenomeData0.0002 synonymousAVal [V]3244
contig referenceCVal [V]3244
92931627993 rs1407202303 N.D. missenseTSer [S]1245
contig referenceCPro [P]1245
92931629995 rs760090586 0.000 synonymousTPro [P]3245
contig referenceCPro [P]3245
92931630996 rs770235356 0.000 missenseALys [K]1246
contig referenceGGlu [E]1246
929316351001 rs764717601 N.D. synonymousGGlu [E]3247
contig referenceAGlu [E]3247
929316371003 rs1451876106 N.D. missenseGGly [G]2248
contig referenceAGlu [E]2248
929316401006 rs1056311147 N.D. frame shift-Ala [A]2249
contig referenceGCCCGly [G]2249
929316411007 rs775876662 0.000byClusterbyFreq synonymousAGly [G]3249
contig referenceCGly [G]3249
929316421008 rs1456371000 N.D. missenseTSer [S]1250
contig referenceCPro [P]1250
929316491015 rs763244381 0.000 missenseCAla [A]2252
contig referenceTVal [V]2252
929316521018 rs1413896973 N.D. missenseCAla [A]2253
contig referenceTVal [V]2253
929316591025 rs372389017 0.000byCluster synonymousTAsn [N]3255
contig referenceCAsn [N]3255
929316611027 rs751778608 0.000 missenseTLeu [L]2256
contig referenceCPro [P]2256
929316631029 rs762084269 0.000 missenseAAsn [N]1257
missenseTTyr [Y]1257
contig referenceCHis [H]1257
929316671033 rs767551476 0.000byFreq missenseTLeu [L]2258
contig referenceCPro [P]2258
929316681034 rs199772175 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousAPro [P]3258
synonymousCPro [P]3258
contig referenceGPro [P]3258
929316691035 rs765097128 0.000 missenseCArg [R]1259
missenseGGly [G]1259
contig referenceASer [S]1259
929316701036 rs1325908875 N.D. missenseAAsn [N]2259
contig referenceGSer [S]2259
929316741040 rs769259860 0.000 frame shiftGGAGGly [G]3262
contig reference-Tyr [Y]3262
929316771043 rs752469467 0.000 synonymousAGly [G]3261
contig referenceCGly [G]3261
929316781044 rs1187655465 N.D. missenseGAsp [D]1262
contig referenceTTyr [Y]1262
929316791045 rs1256076860 N.D. missenseGCys [C]2262
contig referenceATyr [Y]2262
929316831049 rs758122903 0.000 synonymousALys [K]3263
contig referenceGLys [K]3263
929316841050 rs1182582443 N.D. missenseALys [K]1264
contig referenceGGlu [E]1264
929316861052 rs9658655 0.223byClusterbyFreqWith1000GenomeData0.1835 missenseCAsp [D]3264
contig referenceGGlu [E]3264
929316901056 rs551223599 0.000byFreqWith1000GenomeData0.0002 missenseTTrp [W]1266
contig referenceCArg [R]1266
929316911057 rs757011007 0.000 missenseAGln [Q]2266
contig referenceGArg [R]2266
929316981064 rs968133757 N.D. synonymousTGly [G]3268
contig referenceCGly [G]3268
929316991065 rs776957955 0.000 frame shift-Arg [R]1269
contig referenceGGlu [E]1269
929316991065 rs780810744 0.000byFreq missenseALys [K]1269
contig referenceGGlu [E]1269
929317011067 rs745392288 0.000 synonymousAGlu [E]3269
contig referenceGGlu [E]3269
929323701069 rs961714095 N.D. missenseAAsn [N]2270
missenseTIle [I]2270
contig referenceGSer [S]2270
929323721071 rs9658662 0.011byClusterbyFreqWith1000GenomeData0.0014 missenseGGly [G]1271
missenseTTrp [W]1271
contig referenceCArg [R]1271
929323731072 rs748523969 0.000byFreq missenseAGln [Q]2271
contig referenceGArg [R]2271
929323741073 rs1248623658 N.D. synonymousAArg [R]3271
contig referenceGArg [R]3271
929323761075 rs1481614671 N.D. nonsenseA2272
missenseTLeu [L]2272
contig referenceCSer [S]2272
929323771076 rs772213323 0.000 synonymousASer [S]3272
contig referenceGSer [S]3272
929323791078 rs1167075453 N.D. missenseCAla [A]2273
contig referenceAGlu [E]2273
929323801079 rs1386920222 N.D. missenseTAsp [D]3273
contig referenceGGlu [E]3273
929323811080 rs1161254426 N.D. missenseAThr [T]1274
contig referenceGAla [A]1274
929323821081 rs9658663 0.010byClusterbyFreqWith1000GenomeData0.0062 missenseGGly [G]2274
contig referenceCAla [A]2274
929323901089 rs977945873 N.D. missenseAMet [M]1277
contig referenceGVal [V]1277
929323921091 rs761013910 0.000 synonymousAVal [V]3277
contig referenceGVal [V]3277
929323941093 rs1424494632 N.D. missenseTVal [V]2278
contig referenceAAsp [D]2278
929323971096 rs564902629 0.000With1000GenomeData0.0002 missenseAGlu [E]2279
contig referenceGGly [G]2279
929324001099 rs572031425 0.000byFreqWith1000GenomeData0.0002 missenseTVal [V]2280
contig referenceCAla [A]2280
929324011100 rs1325137529 N.D. synonymousCAla [A]3280
contig referenceTAla [A]3280
929324021101 rs1331299661 N.D. missenseAArg [R]1281
contig referenceGGly [G]1281
929324031102 rs1194814093 N.D. missenseAGlu [E]2281
contig referenceGGly [G]2281
929324061105 rs1476578103 N.D. missenseGArg [R]2282
contig referenceALys [K]2282
929324071106 rs1437679631 N.D. missenseTAsn [N]3282
synonymousALys [K]3282
contig referenceGLys [K]3282
929324101109 rs1269973245 N.D. synonymousCPro [P]3283
contig referenceTPro [P]3283
929324131112 rs200777605 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTGly [G]3284
contig referenceGGly [G]3284
929324171116 rs1465378809 N.D. missenseCGln [Q]1286
contig referenceGGlu [E]1286
929324181117 rs1221016355 N.D. missenseCAla [A]2286
contig referenceAGlu [E]2286
929324191118 rs1259223942 N.D. missenseCAsp [D]3286
contig referenceGGlu [E]3286
929324201119 rs764149977 0.000 missenseALys [K]1287
contig referenceGGlu [E]1287
929324221121 rs565635101 0.000byClusterbyFreq synonymousAGlu [E]3287
contig referenceGGlu [E]3287
929324271126 rs1292340409 N.D. missenseGArg [R]2289
contig referenceAGln [Q]2289
929324281127 rs985275420 N.D. synonymousAGln [Q]3289
contig referenceGGln [Q]3289
929324291128 rs912266066 N.D. missenseAAsn [N]1290
contig referenceGAsp [D]1290
929324301129 rs1446519940 N.D. missenseGGly [G]2290
contig referenceAAsp [D]2290
929324321131 rs1192280716 N.D. missenseTSer [S]1291
contig referenceCPro [P]1291
929324331132 rs761706024 0.000 missenseTLeu [L]2291
contig referenceCPro [P]2291
929324341133 rs190999870 0.000With1000GenomeData0.0002 synonymousGPro [P]3291
synonymousTPro [P]3291
contig referenceCPro [P]3291
929324351134 rs371137176 0.000byClusterbyFreq missenseALys [K]1292
contig referenceGGlu [E]1292
929324381137 rs763386106 N.D. missenseAArg [R]1293
contig referenceGGly [G]1293
929324391138 rs755848437 0.000 missenseAGlu [E]2293
contig referenceGGly [G]2293
929324401139 rs779403860 0.000 synonymousCGly [G]3293
contig referenceGGly [G]3293
929324421141 rs912890820 N.D. missenseCThr [T]2294
contig referenceALys [K]2294
929324551154 rs1399741955 N.D. missenseTAsp [D]3298
synonymousAGlu [E]3298
contig referenceGGlu [E]3298
929324601159 rs753407523 0.000 missenseATyr [Y]2300
missenseTPhe [F]2300
contig referenceCSer [S]2300
929324611160 rs1338604305 N.D. synonymousGSer [S]3300
contig referenceCSer [S]3300
929324701169 rs770895936 0.000byClusterbyFreq GAGGlu [E]3308
929324711170 rs765455865 0.000byClusterbyFreq -1308
929324721171 rs755415831 0.000 missenseGGly [G]2304
contig referenceAGlu [E]2304
929324741173 rs869079468 N.D. missenseALys [K]1305
contig referenceGGlu [E]1305
929324751174 rs1294682372 N.D. missenseGGly [G]2305
contig referenceAGlu [E]2305
929324761175 rs1402187287 N.D. synonymousAGlu [E]3305
contig referenceGGlu [E]3305
929324771176 rs140089514 0.000byCluster missenseALys [K]1306
contig referenceGGlu [E]1306
929324791178 rs1355349695 N.D. missenseCAsp [D]3306
synonymousAGlu [E]3306
contig referenceGGlu [E]3306
929324801179 rs1242786079 N.D. missenseALys [K]1307
contig referenceGGlu [E]1307
929324811180 rs1396915457 N.D. missenseCAla [A]2307
contig referenceAGlu [E]2307
929324831182 rs1286020628 N.D. missenseALys [K]1308
contig referenceGGlu [E]1308
929324851184 rs947065632 N.D. missenseTAsp [D]3308
contig referenceGGlu [E]3308
929324871186 rs1204781406 N.D. missenseCThr [T]2309
contig referenceTMet [M]2309
929324931192 rs1169354493 N.D. missenseCAla [A]2311
contig referenceTVal [V]2311
929324941193 rs779394961 0.000 synonymousAVal [V]3311
synonymousTVal [V]3311
contig referenceGVal [V]3311
929324951194 rs1463722995 N.D. missenseTPhe [F]1312
contig referenceGVal [V]1312
929324961195 rs1489159632 N.D. missenseGGly [G]2312
contig referenceTVal [V]2312
929324971196 rs1043983476 N.D. synonymousTVal [V]3312
contig referenceCVal [V]3312
929324991198 rs904123149 N.D. missenseTLeu [L]2313
contig referenceCPro [P]2313
929325001199 rs748718190 0.000byFreq synonymousAPro [P]3313
synonymousTPro [P]3313
contig referenceGPro [P]3313
929325041203 rs9658664 0.074byClusterbyFreqWith1000GenomeData0.0134 missenseASer [S]1315
missenseASer [S]1315
contig referenceGGly [G]1315
contig referenceGGly [G]1315
929325051204 rs1189087214 N.D. missenseAAsp [D]2315
contig referenceGGly [G]2315
929325061205 rs1368552697 N.D. synonymousAGly [G]3315
synonymousTGly [G]3315
contig referenceCGly [G]3315
929325121211 rs1469120715 N.D. synonymousTPhe [F]3317
contig referenceCPhe [F]3317
929325131212 rs896522084 N.D. missenseTTrp [W]1318
contig referenceCArg [R]1318
929325141213 rs147297806 0.000byCluster missenseAGln [Q]2318
contig referenceGArg [R]2318
929325191218 rs1421947580 N.D. missenseAArg [R]1320
contig referenceGGly [G]1320
929325211220 rs1016126585 N.D. synonymousAGly [G]3320
contig referenceGGly [G]3320
929325271226 rs534568059 N.D. synonymousTSer [S]3322
contig referenceCSer [S]3322
929325281227 rs778247059 0.000 missenseAArg [R]1323
contig referenceGGly [G]1323
929325331232 rs897140526 N.D. missenseCAsp [D]3324
contig referenceGGlu [E]3324
929325341233 rs1394820261 N.D. missenseGVal [V]1325
contig referenceCLeu [L]1325
929325371236 rs185229400 0.000With1000GenomeData0.0002 missenseCGln [Q]1326
contig referenceGGlu [E]1326
929325391238 rs747167515 0.000 synonymousAGlu [E]3326
contig referenceGGlu [E]3326
929325411240 rs763325622 0.000byFreq -2330
929325431242 rs1307406462 N.D. missenseALys [K]1328
contig referenceGGlu [E]1328
929325461245 rs1356080354 N.D. missenseALys [K]1329
contig referenceGGlu [E]1329
929325491248 rs771215098 0.000 missenseALys [K]1330
contig referenceGGlu [E]1330
929325501249 rs1279326391 N.D. missenseGGly [G]2330
contig referenceAGlu [E]2330
929325511250 rs563400835 0.000With1000GenomeData0.0002 synonymousAGlu [E]3330
contig referenceGGlu [E]3330
929325521251 rs532226129 0.000byFreqWith1000GenomeData0.0008 missenseTTrp [W]1331
contig referenceCArg [R]1331
929325531252 rs552215557 0.001byFreqWith1000GenomeData0.0002 missenseAGln [Q]2331
contig referenceGArg [R]2331
929325541253 rs752136557 N.D. synonymousAArg [R]3331
contig referenceGArg [R]3331
929325561255 rs9658665 0.012byClusterbyFreqWith1000GenomeData0.0102 missenseCPro [P]2332
missenseCPro [P]2332
contig referenceTLeu [L]2332
contig referenceTLeu [L]2332
929325571256 rs774428465 0.000 synonymousGLeu [L]3332
contig referenceCLeu [L]3332
929325591258 rs1381855005 N.D. missenseATyr [Y]2333
missenseTPhe [F]2333
contig referenceCSer [S]2333
929325631262 rs1439908485 N.D. synonymousALys [K]3334
contig referenceGLys [K]3334
929325641263 rs1172570712 N.D. missenseALys [K]1335
contig referenceGGlu [E]1335
929325651264 rs1394865669 N.D. missenseGGly [G]2335
contig referenceAGlu [E]2335
929325661265 rs1463807046 N.D. synonymousAGlu [E]3335
contig referenceGGlu [E]3335
929325661265 rs1464824727 N.D. frame shiftTLeu [L]3336
contig reference-Trp [W]3336
929325751274 rs985223077 N.D. synonymousTAsp [D]3338
contig referenceCAsp [D]3338
929325821281 rs1019441332 N.D. missenseTCys [C]1341
contig referenceCArg [R]1341
929325831282 rs761902208 0.000 missenseAHis [H]2341
contig referenceGArg [R]2341
929325841283 rs1403503012 N.D. synonymousTArg [R]3341
contig referenceCArg [R]3341
929325881287 rs1176648493 N.D. missenseCArg [R]1343
contig referenceASer [S]1343
929325921291 rs1470700308 N.D. missenseTMet [M]2344
contig referenceALys [K]2344
929325951294 rs767197817 0.000byFreq missenseCThr [T]2345
contig referenceTMet [M]2345
929325991298 rs1329387002 N.D. synonymousTAsp [D]3346
contig referenceCAsp [D]3346
929326021301 rs1422413862 N.D. missenseCHis [H]3347
contig referenceGGln [Q]3347
929326031302 rs1379468193 N.D. missenseGVal [V]1348
synonymousTLeu [L]1348
contig referenceCLeu [L]1348
929326041303 rs750275509 0.000 missenseCPro [P]2348
contig referenceTLeu [L]2348
929326061305 rs1302866324 N.D. missenseAThr [T]1349
contig referenceGAla [A]1349
929326121311 rs1310251280 N.D. missenseALys [K]1351
contig referenceGGlu [E]1351
929326121311 rs1477978863 N.D. frame shift-Arg [R]1351
contig reference(7bp)Glu [E]1351
929326141313 rs1027191805 N.D. synonymousAGlu [E]3351
contig referenceGGlu [E]3351
929326171316 rs1235117230 N.D. synonymousALeu [L]3352
contig referenceGLeu [L]3352
929326191318 rs757656588 N.D.byCluster missenseTMet [M]2353
contig referenceCThr [T]2353
929326201319 rs1338663871 N.D. synonymousAThr [T]3353
synonymousCThr [T]3353
contig referenceGThr [T]3353
929326211320 rs760193216 0.000byClusterbyFreq missenseAThr [T]1354
contig referenceGAla [A]1354
929326291328 rs1239484819 N.D. synonymousALys [K]3356
contig referenceGLys [K]3356
929326301329 rs546878181 0.000byCluster missenseTTrp [W]1357
contig referenceCArg [R]1357
929326311330 rs767989572 0.000byFreq missenseAGln [Q]2357
contig referenceGArg [R]2357
929326351334 rs1264772133 N.D. synonymousALeu [L]3358
contig referenceGLeu [L]3358
929326371336 rs201406253 0.008byClusterbyFreq missenseGGly [G]2359
contig referenceAGlu [E]2359
929326421341 rs570207965 0.004byClusterbyFreqWith1000GenomeData0.0022 AGGGlu [E]1365
929326431342 rs751728985 N.D. -2365
929326431342 rs755086015 0.000 -2363
929326441343 rs1178648168 N.D. missenseTHis [H]3361
contig referenceGGln [Q]3361
929326451344 rs778452104 0.000 missenseALys [K]1362
contig referenceGGlu [E]1362
929326461345 rs764112390 0.000byFreq GGGGCT [GL]2362
929326471346 rs374405768 0.000byClusterbyFreq missenseCAsp [D]3362
missenseTAsp [D]3362
synonymousAGlu [E]3362
contig referenceGGlu [E]3362
929326491348 rs753676670 0.000byFreq GGGGCT [GL]2363
929326511350 rs1447555077 N.D. nonsenseT1364
contig referenceGGlu [E]1364
929326531352 rs912997626 N.D. missenseCAsp [D]3364
contig referenceGGlu [E]3364
929326561355 rs747424184 0.000 missenseTAsp [D]3365
contig referenceGGlu [E]3365
929326571356 rs1365719378 N.D. missenseAAsn [N]1366
contig referenceGAsp [D]1366
929326591358 rs771000157 0.000 missenseGGlu [E]3366
contig referenceCAsp [D]3366
929326631362 rs781483407 0.000byFreq missenseTTrp [W]1368
contig referenceCArg [R]1368
929326641363 rs746161501 0.000byFreq missenseAGln [Q]2368
contig referenceGArg [R]2368
929326661365 rs2228575 0.009byClusterbyFreqWith1000GenomeData0.0006 missenseAAsn [N]1369
missenseCHis [H]1369
contig referenceGAsp [D]1369
929326691368 rs1259872718 N.D. missenseCArg [R]1370
contig referenceASer [S]1370
929326701369 rs775763691 0.000 missenseAAsn [N]2370
missenseCThr [T]2370
contig referenceGSer [S]2370
929326751374 rs368474196 0.000byClusterbyFreq YesmissenseGVal [V]1372
contig referenceAMet [M]1372
929326761375 rs548111245 0.000byFreqWith1000GenomeData0.0004 missenseCThr [T]2372
missenseGArg [R]2372
contig referenceTMet [M]2372
929326771376 rs1489254080 N.D. missenseAIle [I]3372
contig referenceGMet [M]3372
929326861385 rs1193340437 N.D. synonymousGSer [S]3375
contig referenceCSer [S]3375
929326901389 rs760519283 0.000byFreq missenseTTrp [W]1377
contig referenceCArg [R]1377
929326911390 rs766151622 0.000byFreq missenseAGln [Q]2377
missenseCPro [P]2377
missenseTLeu [L]2377
contig referenceGArg [R]2377
929326921391 rs1192164478 N.D. synonymousAArg [R]3377
contig referenceGArg [R]3377
929326951394 rs1055822277 N.D. synonymousAAla [A]3378
contig referenceCAla [A]3378
929326961395 rs776249486 0.000 missenseTTrp [W]1379
contig referenceCArg [R]1379
929326971396 rs759234958 0.000byFreq missenseAGln [Q]2379
missenseTLeu [L]2379
contig referenceGArg [R]2379
929326991398 rs1438280197 N.D. missenseCPro [P]1380
contig referenceGAla [A]1380
929327001399 rs1337921027 N.D. missenseTVal [V]2380
contig referenceCAla [A]2380
929327011400 rs372170669 0.000byClusterbyFreq YessynonymousTAla [A]3380
contig referenceCAla [A]3380
929327041403 rs9658666 0.000byClusterbyFreq YesnonsenseG3381
synonymousTTyr [Y]3381
contig referenceCTyr [Y]3381
929327051404 rs9658667 0.075byClusterbyFreqWith1000GenomeData0.0280 YesmissenseASer [S]1382
missenseASer [S]1382
contig referenceGGly [G]1382
contig referenceGGly [G]1382
929327121411 rs757638830 0.000byFreq missenseALys [K]2384
contig referenceGArg [R]2384
929327141413 rs1397858410 N.D. missenseASer [S]1385
contig referenceGGly [G]1385
929327151414 rs1280075530 N.D. missenseCAla [A]2385
contig referenceGGly [G]2385
929327161415 rs1288141185 N.D. synonymousAGly [G]3385
contig referenceCGly [G]3385
929327221421 rs1341015347 N.D. synonymousAGly [G]3387
contig referenceGGly [G]3387
929327241423 rs9658668 0.001byClusterbyFreqWith1000GenomeData0.0012 YesmissenseTLeu [L]2388
contig referenceCPro [P]2388
929327251424 rs746067443 0.000byFreq synonymousAPro [P]3388
contig referenceGPro [P]3388
929327261425 rs1322936369 N.D. missenseALys [K]1389
contig referenceCGln [Q]1389
929327281427 rs1315450229 N.D. -3390
929327291428 rs1221854106 N.D. missenseGVal [V]1390
contig referenceCLeu [L]1390
929327321431 rs756448761 0.000byFreq nonsenseT1391
contig referenceCArg [R]1391
929327321431 rs757076345 0.000 -1392
929327331432 rs780244559 0.000byFreq missenseAGln [Q]2391
contig referenceGArg [R]2391
929327351434 rs1214875299 N.D. synonymousAArg [R]1392
contig referenceCArg [R]1392
929327361435 rs9658669 0.000byClusterbyFreq missenseAGln [Q]2392
missenseCPro [P]2392
contig referenceGArg [R]2392
929327381437 rs1478428505 N.D. missenseCArg [R]1393
contig referenceGGly [G]1393
929327441443 rs1000019911 N.D. missenseGGly [G]1395
contig referenceAArg [R]1395
929327451444 rs1181730458 N.D. missenseALys [K]2395
contig referenceGArg [R]2395
929327461445 rs546295992 0.000byClusterbyFreq missenseCSer [S]3395
contig referenceGArg [R]3395
929327521451 rs773194124 0.000byFreq synonymousTSer [S]3397
contig referenceCSer [S]3397
929327531452 rs1430849338 N.D. missenseCPro [P]1398
contig referenceTSer [S]1398
929327541453 rs1165783928 N.D. missenseATyr [Y]2398
contig referenceCSer [S]2398
929327561455 rs729940 0.306byClusterbyFreqWith1000GenomeData0.1244 missenseTTrp [W]1399
missenseTTrp [W]1399
missenseTTrp [W]1399
contig referenceCArg [R]1399
contig referenceCArg [R]1399
contig referenceCArg [R]1399
929327571456 rs776448712 0.000byFreq missenseAGln [Q]2399
contig referenceGArg [R]2399
929327591458 rs759149127 0.000byFreq nonsenseT1400
missenseALys [K]1400
contig referenceGGlu [E]1400
929327611460 rs1361152624 N.D. missenseCAsp [D]3400
missenseTAsp [D]3400
contig referenceGGlu [E]3400
929327671466 rs1164613185 N.D. frame shiftGAla [A]3403
contig reference-Leu [L]3403
929327691468 rs1447212628 N.D. missenseCPro [P]2403
contig referenceTLeu [L]2403
929327711470 rs764891339 0.000 nonsenseT1404
contig referenceGGlu [E]1404
929327721471 rs774925165 0.000 missenseTVal [V]2404
contig referenceAGlu [E]2404
929327731472 rs1228342689 N.D. synonymousAGlu [E]3404
contig referenceGGlu [E]3404
929327751474 rs1305910970 N.D. missenseTVal [V]2405
contig referenceCAla [A]2405
929327761475 rs367630935 0.000byCluster synonymousAAla [A]3405
contig referenceGAla [A]3405
929327781477 rs763579788 0.000 missenseAAsp [D]2406
contig referenceGGly [G]2406
929327801479 rs752095272 0.000 synonymousTLeu [L]1407
contig referenceCLeu [L]1407
929327831482 rs1265416900 N.D. missenseTSer [S]1408
contig referenceCPro [P]1408
929327851484 rs1488784369 N.D. synonymousTPro [P]3408
contig referenceCPro [P]3408
929327911490 rs576145060 0.000byFreqWith1000GenomeData0.0002 synonymousAGln [Q]3410
contig referenceGGln [Q]3410
929327941493 rs1236183493 N.D. synonymousGVal [V]3411
contig referenceCVal [V]3411
929327951494 rs750853273 0.000 nonsenseT1412
contig referenceCArg [R]1412
929327961495 rs371784494 0.000byClusterbyFreq missenseAGln [Q]2412
contig referenceGArg [R]2412
929328031502 rs780424392 0.000 nonsenseA3414
synonymousTTyr [Y]3414
contig referenceCTyr [Y]3414
929328061505 rs749584845 0.001byFreq synonymousGPro [P]3415
synonymousTPro [P]3415
contig referenceCPro [P]3415
929328071506 rs778906426 0.000byFreq missenseALys [K]1416
contig referenceGGlu [E]1416
929328071506 rs779106847 N.D.byCluster -1417
929328121511 rs1380686916 N.D. synonymousAGlu [E]3417
contig referenceGGlu [E]3417
929328131512 rs746933194 0.000 nonsenseT1418
missenseGGlu [E]1418
contig referenceALys [K]1418
929328191518 rs778512141 0.000 -1422
929328221521 rs1019977498 N.D. missenseALys [K]1421
contig referenceGGlu [E]1421
929328231522 rs376816185 0.000byCluster missenseTVal [V]2421
contig referenceAGlu [E]2421
929328241523 rs729939 0.110byClusterbyFreqWith1000GenomeData0.0549 synonymousAGlu [E]3421
synonymousAGlu [E]3421
contig referenceGGlu [E]3421
contig referenceGGlu [E]3421
929328271526 rs1373939399 N.D. missenseTAsp [D]3422
contig referenceGGlu [E]3422
929328291528 rs1448540239 N.D. missenseAAsp [D]2423
contig referenceGGly [G]2423
929328331532 rs745675407 0.000 synonymousTSer [S]3424
contig referenceCSer [S]3424
929328341533 rs769369863 0.000byClusterbyFreq missenseAThr [T]1425
contig referenceGAla [A]1425
929328351534 rs929733264 N.D. missenseGGly [G]2425
contig referenceCAla [A]2425
929328401539 rs775119724 0.000byFreq missenseTCys [C]1427
contig referenceCArg [R]1427
929328411540 rs1314460242 N.D. missenseAHis [H]2427
contig referenceGArg [R]2427
929328421541 rs1210980473 N.D. synonymousAArg [R]3427
contig referenceCArg [R]3427
929328431542 rs1459811579 N.D. synonymousCArg [R]1428
contig referenceAArg [R]1428
929328451544 rs1348465628 N.D. synonymousGArg [R]3428
contig referenceAArg [R]3428
929328471546 rs1164425277 N.D. missenseGArg [R]2429
contig referenceCPro [P]2429
929348031553 rs1478211794 N.D. frame shift-Arg [R]3432
contig referenceCGln [Q]3432
929348061556 rs1192885797 N.D. synonymousAGln [Q]3432
contig referenceGGln [Q]3432
929348071557 rs1421367823 N.D. missenseALys [K]1433
contig referenceGGlu [E]1433
929348101560 rs1478541194 N.D. missenseAMet [M]1434
contig referenceCLeu [L]1434
929348111561 rs1170773356 N.D. missenseCPro [P]2434
contig referenceTLeu [L]2434
929348131563 rs752740996 0.000 missenseALys [K]1435
contig referenceGGlu [E]1435
929348161566 rs757128358 0.000 missenseTCys [C]1436
contig referenceASer [S]1436
929348201570 rs1325033792 N.D. missenseAGln [Q]2437
contig referenceTLeu [L]2437
929348231573 rs781112577 0.000byFreq missenseTLeu [L]2438
contig referenceCSer [S]2438
929348241574 rs745873520 0.000byFreq synonymousASer [S]3438
contig referenceGSer [S]3438
929348261576 rs1278173503 N.D. missenseTVal [V]2439
contig referenceCAla [A]2439
929348271577 rs769565118 0.000 synonymousGAla [A]3439
contig referenceCAla [A]3439
929348281578 rs1339048573 N.D. missenseGVal [V]1440
contig referenceAIle [I]1440
929348291579 rs779875386 0.000 missenseCThr [T]2440
contig referenceTIle [I]2440
929348331583 rs941581 0.358byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.2047 missenseTAsp [D]3441
synonymousGGlu [E]3441
contig referenceAGlu [E]3441
929348381588 rs1355649636 N.D. -2445
929348391589 rs145505017 0.000byCluster missenseTAsp [D]3443
synonymousAGlu [E]3443
contig referenceGGlu [E]3443
929348401590 rs1292233768 N.D. synonymousTLeu [L]1444
contig referenceCLeu [L]1444
929348451595 rs1016046965 N.D. synonymousAGlu [E]3445
contig referenceGGlu [E]3445
929348461596 rs1427774011 N.D. missenseGGlu [E]1446
contig referenceALys [K]1446
929348491599 rs1017760007 N.D. missenseCLeu [L]1447
contig referenceGVal [V]1447
929348501600 rs535317688 0.000byFreqWith1000GenomeData0.0002 missenseCAla [A]2447
contig referenceTVal [V]2447
929348571607 rs867997329 N.D. missenseAGln [Q]3449
contig referenceCHis [H]3449
929348591609 rs1261031215 N.D. missenseGArg [R]2450
contig referenceAGln [Q]2450
929348641614 rs1478756518 N.D. nonsenseT1452
contig referenceCGln [Q]1452
929348661616 rs1452196800 N.D. frame shift-His [H]3453
contig referenceGAla [A]3453
929348691619 rs1194219757 N.D. synonymousGAla [A]3453
contig referenceAAla [A]3453
929348701620 rs761247326 0.000 synonymousTLeu [L]1454
contig referenceCLeu [L]1454
929348711621 rs1221251480 N.D. missenseCPro [P]2454
contig referenceTLeu [L]2454
929348731623 rs150981613 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseTTrp [W]1455
synonymousAArg [R]1455
contig referenceCArg [R]1455
929348741624 rs534157810 N.D.byCluster missenseAGln [Q]2455
contig referenceGArg [R]2455
929348761626 rs773837740 0.000 missenseTTrp [W]1456
contig referenceCArg [R]1456
929348771627 rs141005266 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2456
contig referenceGArg [R]2456
929348821632 rs1297967520 N.D. CArg [R]1458
contig referenceT1458
929352201970 rs746975384 N.D. -