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dbSNP

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SNP linked to Gene (geneID:226) 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): 10
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000034.3plus strandNP_000025.1forwardNT_187260.1GRCh38.p7<- currently shown
XM_011545768.2plus strandXP_011544070.1forwardNT_187260.1GRCh38.p7View snp on GeneModel
NM_184043.2plus strandNP_908932.1forwardNT_187260.1GRCh38.p7View snp on GeneModel
NM_184041.2plus strandNP_908930.1forwardNT_187260.1GRCh38.p7View snp on GeneModel
NM_001355565.1plus strandNP_001342494.1forwardNT_187260.1GRCh38.p7View snp on GeneModel
NM_001355564.1plus strandNP_001342493.1forwardNT_187260.1GRCh38.p7View snp on GeneModel
NM_001355563.1plus strandNP_001342492.1forwardNT_187260.1GRCh38.p7View snp on GeneModel
NM_001355562.1plus strandNP_001342491.1forwardNT_187260.1GRCh38.p7View snp on GeneModel
NM_001243177.1plus strandNP_001230106.1forwardNT_187260.1GRCh38.p7View snp on GeneModel
NM_001127617.2plus strandNP_001121089.1forwardNT_187260.1GRCh38.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_187260.1NM_000034.3NP_000025.1forwardplus strand510, 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
30066898269 rs1209382306 N.D. missenseGVal [V]11
contig referenceAMet [M]11
30066899270 rs754372047 0.000byFreq missenseALys [K]21
missenseCThr [T]21
contig referenceTMet [M]21
30066901272 rs559971583 N.D. missenseAThr [T]12
contig referenceGAla [A]12
30066903274 rs1367664258 N.D. synonymousCAla [A]32
contig referenceAAla [A]32
30066905276 rs1474141813 N.D. missenseALys [K]23
contig referenceGArg [R]23
30066906277 rs757710745 0.000 missenseCSer [S]33
synonymousAArg [R]33
contig referenceGArg [R]33
30066907278 rs552061511 0.000byFreqWith1000GenomeData0.0002 missenseGGly [G]14
missenseTCys [C]14
contig referenceCArg [R]14
30066908279 rs146835556 0.000With1000GenomeData0.0002 missenseAHis [H]24
missenseCPro [P]24
contig referenceGArg [R]24
30066911282 rs1331395187 N.D. missenseTMet [M]25
contig referenceALys [K]25
30066917288 rs1283032904 N.D. frame shift-Pro [P]29
contig referenceASer [S]29
30066919290 rs531033350 0.001byFreqWith1000GenomeData0.0006 missenseAArg [R]18
contig referenceGGly [G]18
30066922293 rs1353653593 N.D. missenseCPro [P]19
contig referenceTSer [S]19
30066923294 rs1225075139 N.D. missenseGCys [C]29
contig referenceCSer [S]29
30066924295 rs772036398 0.000byFreq synonymousTSer [S]39
contig referenceCSer [S]39
30066927298 rs780378047 0.000byFreq synonymousTSer [S]310
contig referenceCSer [S]310
30066934305 rs747173726 0.000 missenseGVal [V]113
contig referenceAMet [M]113
30066935306 rs1353877931 N.D. missenseCThr [T]213
contig referenceTMet [M]213
30066938309 rs914136423 N.D. missenseGSer [S]214
contig referenceCThr [T]214
30066939310 rs971402340 N.D. synonymousTThr [T]314
contig referenceCThr [T]314
30066942313 rs768538661 0.000 missenseGGln [Q]315
synonymousTHis [H]315
contig referenceCHis [H]315
30066943314 rs776529531 0.000 missenseGVal [V]116
synonymousTLeu [L]116
contig referenceCLeu [L]116
30066944315 rs926663650 N.D. missenseGArg [R]216
contig referenceTLeu [L]216
30066949320 rs1346580645 N.D. missenseGVal [V]118
contig referenceAMet [M]118
30066955326 rs1036530879 N.D. frame shiftTIle [I]120
contig reference-Met [M]120
30066958329 rs549434187 0.000With1000GenomeData0.0002 missenseAThr [T]121
contig referenceGAla [A]121
30066961332 rs769800173 0.000byClusterbyFreq missenseCLeu [L]122
contig referenceTPhe [F]122
30066965336 rs973485583 N.D. missenseTPhe [F]223
contig referenceCSer [S]223
30066967338 rs1184108117 N.D. missenseAIle [I]124
missenseCLeu [L]124
contig referenceTPhe [F]124
30066970341 rs768781534 N.D. frame shift-Gln [Q]126
contig referenceCPro [P]126
30066971342 rs772853499 0.000 missenseTLeu [L]225
contig referenceCPro [P]225
30066972343 rs762591392 0.000 synonymousTPro [P]325
contig referenceCPro [P]325
30066977348 rs760860128 N.D. missenseAAsp [D]227
contig referenceTVal [V]227
30066979350 rs1157264253 N.D. missenseTSer [S]128
contig referenceGAla [A]128
30066983354 rs765795855 0.000 missenseAAsn [N]229
missenseTIle [I]229
contig referenceGSer [S]229
30066987358 rs751275868 0.000byFreq synonymousAGly [G]330
contig referenceGGly [G]330
30066990361 rs1172442293 N.D. missenseTHis [H]331
contig referenceAGln [Q]331
30066992363 rs1374191756 N.D. missenseCPro [P]232
contig referenceTLeu [L]232
30066994365 rs759070394 0.000byClusterbyFreq missenseTTyr [Y]133
contig referenceCHis [H]133
30066996367 rs764462408 0.000byFreq synonymousTHis [H]333
contig referenceCHis [H]333
30066997368 rs1457308625 N.D. missenseTSer [S]134
contig referenceCPro [P]134
30066998369 rs754143271 0.000byFreq missenseGArg [R]234
contig referenceCPro [P]234
30067000371 rs567803172 0.000With1000GenomeData0.0002 missenseGGlu [E]135
contig referenceCGln [Q]135
30067004375 rs779460013 0.000 missenseCPro [P]236
contig referenceTLeu [L]236
30067005376 rs1313373959 N.D. synonymousALeu [L]336
contig referenceGLeu [L]336
30067006377 rs1233359148 N.D. missenseASer [S]137
contig referenceGGly [G]137
30067008379 rs750912887 0.000 synonymousGGly [G]337
synonymousTGly [G]337
contig referenceCGly [G]337
30067011382 rs199775687 0.004byCluster synonymousTAsn [N]338
contig referenceCAsn [N]338
30067014385 rs1273828949 N.D. synonymousTThr [T]339
contig referenceCThr [T]339
30067021392 rs1471867574 N.D. frame shift-Asp [D]142
contig referenceCAGln [Q]142
30067023394 rs1231663502 N.D. missenseCHis [H]342
synonymousAGln [Q]342
contig referenceGGln [Q]342
30067025396 rs1180688828 N.D. frame shiftAArg [R]244
contig reference-Glu [E]244
30067026397 rs762292824 0.000 frame shift-Val [V]344
contig referenceAGGlu [E]344
30067026397 rs1354536664 N.D. synonymousGThr [T]343
contig referenceAThr [T]343
30067029400 rs1207262321 N.D. missenseCAsp [D]344
contig referenceGGlu [E]344
30067032403 rs758552797 0.000 synonymousGLeu [L]345
contig referenceALeu [L]345
30067034405 rs1482641654 N.D. missenseAGlu [E]246
contig referenceGGly [G]246
30067037408 rs1381124418 N.D. missenseGArg [R]247
contig referenceALys [K]247
30067234410 rs555628582 0.000byFreqWith1000GenomeData0.0004 missenseALys [K]148
contig referenceGGlu [E]148
30067241417 rs1361239521 N.D. missenseTVal [V]250
contig referenceCAla [A]250
30067243419 rs368691859 0.000byClusterbyFreq missenseGAla [A]151
contig referenceAThr [T]151
30067244420 rs751539995 0.000 missenseTIle [I]251
contig referenceCThr [T]251
30067245421 rs755235804 0.000 synonymousCThr [T]351
contig referenceTThr [T]351
30067246422 rs868546910 N.D.byCluster frame shift-Gln [Q]152
contig referenceACThr [T]152
30067247423 rs781628911 0.000 missenseTIle [I]252
contig referenceCThr [T]252
30067249425 rs371602498 0.000 missenseGGly [G]153
contig referenceASer [S]153
30067252428 rs201718271 0.000byClusterWith1000GenomeData0.0002 missenseTSer [S]154
contig referenceAThr [T]154
30067253429 rs756024464 0.000 missenseGSer [S]254
contig referenceCThr [T]254
30067256432 rs373517060 0.000byCluster missenseCThr [T]255
contig referenceTMet [M]255
30067258434 rs1242012859 N.D. missenseAThr [T]156
contig referenceCPro [P]156
30067260436 rs541579725 0.000With1000GenomeData0.0002 synonymousTPro [P]356
contig referenceCPro [P]356
30067269445 rs1184132818 N.D. synonymousCTyr [Y]359
contig referenceTTyr [Y]359
30067273449 rs150003720 0.000byClusterbyFreq missenseAThr [T]161
contig referenceGAla [A]161
30067275451 rs773916193 0.000byFreq synonymousCAla [A]361
synonymousGAla [A]361
contig referenceAAla [A]361
30067276452 rs1163749559 N.D. synonymousTLeu [L]162
contig referenceCLeu [L]162
30067281457 rs188898200 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousAThr [T]363
synonymousTThr [T]363
contig referenceCThr [T]363
30067282458 rs1458333807 N.D. missenseGAla [A]164
missenseTSer [S]164
contig referenceCPro [P]164
30067283459 rs771553440 0.000byFreq missenseTLeu [L]264
contig referenceCPro [P]264
30067284460 rs760287676 0.000byFreq synonymousAPro [P]364
contig referenceGPro [P]364
30067294470 rs905273606 N.D. missenseGGlu [E]168
contig referenceALys [K]168
30067297473 rs1441238556 N.D. nonsenseT169
missenseALys [K]169
contig referenceGGlu [E]169
30067299475 rs3098411 N.D.byCluster synonymousAGlu [E]369
contig referenceGGlu [E]369
30067300476 rs1304519793 N.D. missenseGVal [V]170
contig referenceCLeu [L]170
30067303479 rs369593749 0.000byCluster missenseCPro [P]171
missenseGAla [A]171
contig referenceTSer [S]171
30067305481 rs1169570428 N.D. synonymousGSer [S]371
contig referenceTSer [S]371
30067309485 rs929389001 N.D. missenseGVal [V]173
contig referenceAIle [I]173
30067311487 rs773402743 0.000byFreq synonymousTIle [I]373
contig referenceCIle [I]373
30067312488 rs763532944 0.000byFreq missenseAThr [T]174
contig referenceGAla [A]174
30067314490 rs911754348 N.D. synonymousCAla [A]374
contig referenceTAla [A]374
30067315491 rs766734350 0.000byFreq missenseGAsp [D]175
missenseTTyr [Y]175
contig referenceCHis [H]175
30067316492 rs1229275334 N.D. missenseGArg [R]275
contig referenceAHis [H]275
30067317493 rs11553110 N.D. synonymousTHis [H]375
contig referenceCHis [H]375
30067318494 rs145582724 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTCys [C]176
contig referenceCArg [R]176
30067319495 rs372684193 0.000byClusterbyFreq missenseAHis [H]276
contig referenceGArg [R]276
30067323499 rs900150960 N.D. missenseGMet [M]377
synonymousAIle [I]377
contig referenceCIle [I]377
30067327503 rs1238620975 N.D. missenseAThr [T]179
contig referenceGAla [A]179
30067328504 rs148880951 0.000byCluster missenseTVal [V]279
contig referenceCAla [A]279
30067330506 rs1186308102 N.D. missenseTSer [S]180
contig referenceCPro [P]180
30067331507 rs545350470 0.000With1000GenomeData0.0002 missenseGArg [R]280
missenseTLeu [L]280
contig referenceCPro [P]280
30067333509 rs1252247083 N.D. missenseCArg [R]181
contig referenceGGly [G]181
30067334510 rs11553114 N.D. missenseAAsp [D]281
contig referenceGGly [G]281
30067340516 rs868681217 N.D.byCluster missenseAAsp [D]283
contig referenceGGly [G]283
30067343519 rs773460807 N.D. missenseCThr [T]284
contig referenceTIle [I]284
30067344520 rs777636671 0.000byFreq synonymousTIle [I]384
contig referenceCIle [I]384
30067345521 rs375985075 0.000byCluster synonymousTLeu [L]185
contig referenceCLeu [L]185
30067352528 rs11553106 N.D. missenseTVal [V]287
contig referenceCAla [A]287
30067358534 rs765153063 N.D. missenseCAla [A]289
contig referenceAGlu [E]289
30067359535 rs1406525452 N.D. synonymousAGlu [E]389
contig referenceGGlu [E]389
30067364540 rs757070186 0.000 missenseGSer [S]291
missenseTIle [I]291
contig referenceCThr [T]291
30067455548 rs764289761 0.000 missenseGVal [V]194
contig referenceAIle [I]194
30067456549 rs754078010 0.000 missenseCThr [T]294
contig referenceTIle [I]294
30067458551 rs11553115 N.D. missenseTSer [S]195
contig referenceGAla [A]195
30067460553 rs1171696741 N.D. synonymousTAla [A]395
contig referenceCAla [A]395
30067463556 rs934971125 N.D. missenseTAsn [N]396
contig referenceGLys [K]396
30067464557 rs757047929 0.000 missenseGGly [G]197
missenseTTrp [W]197
contig referenceCArg [R]197
30067465558 rs549146709 0.000byFreqWith1000GenomeData0.0002 missenseAGln [Q]297
missenseCPro [P]297
contig referenceGArg [R]297
30067466559 rs1328415965 N.D. synonymousCArg [R]397
contig referenceGArg [R]397
30067471564 rs1353022427 N.D. missenseTLeu [L]299
contig referenceAGln [Q]299
30067472565 rs1438920677 N.D. missenseTHis [H]399
contig referenceGGln [Q]399
30067474567 rs1479838470 N.D. missenseTPhe [F]2100
contig referenceCSer [S]2100
30067475568 rs750388752 0.000 synonymousTSer [S]3100
contig referenceCSer [S]3100
30067483576 rs1258174805 N.D. missenseTIle [I]2103
contig referenceCThr [T]2103
30067484577 rs758280973 0.000byFreq synonymousTThr [T]3103
contig referenceCThr [T]3103
30067485578 rs1370360466 N.D. missenseALys [K]1104
missenseCGln [Q]1104
contig referenceGGlu [E]1104
30067487580 rs779556052 0.000byFreq synonymousAGlu [E]3104
contig referenceGGlu [E]3104
30067487580 rs1333136924 N.D. AACAsn [N]3105
30067491584 rs746453321 0.000byFreq missenseGAla [A]1106
contig referenceAThr [T]1106
30067492585 rs1343304938 N.D. missenseTIle [I]2106
contig referenceCThr [T]2106
30067493586 rs768153334 0.000byFreq synonymousAThr [T]3106
synonymousGThr [T]3106
synonymousTThr [T]3106
contig referenceCThr [T]3106
30067497590 rs199852002 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseALys [K]1108
contig referenceGGlu [E]1108
30067498591 rs1435674040 N.D. missenseGGly [G]2108
contig referenceAGlu [E]2108
30067503596 rs1223343551 N.D. missenseTTrp [W]1110
contig referenceCArg [R]1110
30067504597 rs1389645211 N.D. missenseCPro [P]2110
contig referenceGArg [R]2110
30067506599 rs528913350 0.000byFreqWith1000GenomeData0.0002 missenseTCys [C]1111
contig referenceCArg [R]1111
30067507600 rs774739740 0.000 missenseAHis [H]2111
contig referenceGArg [R]2111
30067515608 rs1033867587 N.D. missenseTCys [C]1114
contig referenceCArg [R]1114
30067516609 rs760143922 0.000byFreq missenseAHis [H]2114
missenseTLeu [L]2114
contig referenceGArg [R]2114
30067517610 rs776135373 N.D. synonymousGArg [R]3114
contig referenceCArg [R]3114
30067518611 rs762619360 0.000byFreq frame shift-Thr [T]1117
contig reference(13bp)Leu [L]1117
30067523616 rs959628432 N.D. synonymousALeu [L]3116
contig referenceGLeu [L]3116
30067527620 rs760894068 0.000 missenseAMet [M]1118
contig referenceCLeu [L]1118
30067531624 rs1167070189 N.D. missenseTIle [I]2119
contig referenceCThr [T]2119
30067531624 rs1475604530 N.D. -2120
30067533626 rs896391451 N.D. missenseAThr [T]1120
contig referenceGAla [A]1120
30067534627 rs1160096999 N.D. missenseAAsp [D]2120
contig referenceCAla [A]2120
30067535628 rs764211748 0.000 synonymousCAla [A]3120
contig referenceTAla [A]3120
30067538631 rs11553112 0.000byFreq synonymousTAsp [D]3121
contig referenceCAsp [D]3121
30067541634 rs764960141 0.000byFreq synonymousTAsp [D]3122
contig referenceCAsp [D]3122
30067542635 rs750157849 0.000byFreq missenseASer [S]1123
missenseTCys [C]1123
contig referenceCArg [R]1123
30067543636 rs752587498 0.000byClusterbyFreq missenseAHis [H]2123
contig referenceGArg [R]2123
30067544637 rs565509530 0.000byFreqWith1000GenomeData0.0002 synonymousTArg [R]3123
contig referenceCArg [R]3123
30067545638 rs1278401366 N.D. missenseCLeu [L]1124
contig referenceGVal [V]1124
30067547640 rs1268738540 N.D. synonymousCVal [V]3124
contig referenceGVal [V]3124
30067549642 rs751489857 N.D. missenseGSer [S]2125
contig referenceAAsn [N]2125
30067550643 rs146976414 0.000byClusterbyFreq missenseGLys [K]3125
contig referenceCAsn [N]3125
30067550643 rs765839179 0.000 frame shift-Ala [A]3127
contig referenceCCys [C]3127
30067552645 rs371785490 0.000byClusterbyFreq missenseAHis [H]2126
missenseGArg [R]2126
missenseTLeu [L]2126
contig referenceCPro [P]2126
30067553646 rs1273496648 N.D. synonymousTPro [P]3126
contig referenceCPro [P]3126
30067554647 rs3098412 N.D.byCluster missenseGGly [G]1127
contig referenceTCys [C]1127
30067557650 rs747788394 0.000byClusterbyFreq missenseCLeu [L]1128
contig referenceAIle [I]1128
30067564657 rs1293834299 N.D. missenseTVal [V]2130
contig referenceGGly [G]2130
30067566659 rs200588805 0.000byClusterWith1000GenomeData0.0002 missenseAIle [I]1131
contig referenceGVal [V]1131
30067568661 rs769441707 0.000byFreq synonymousAVal [V]3131
synonymousTVal [V]3131
contig referenceCVal [V]3131
30067570663 rs1447465072 N.D. -2133
30067571664 rs1192404265 N.D. synonymousTIle [I]3132
contig referenceCIle [I]3132
30067572665 rs1371062971 N.D. missenseTPhe [F]1133
contig referenceCLeu [L]1133
30067574667 rs1382472070 N.D. synonymousTLeu [L]3133
contig referenceCLeu [L]3133
30067577670 rs1473695549 N.D. missenseGLeu [L]3134
contig referenceCPhe [F]3134
30067578671 rs1165908944 N.D. missenseTTyr [Y]1135
contig referenceCHis [H]1135
30067580673 rs897856986 N.D. synonymousCHis [H]3135
contig referenceTHis [H]3135
30067581674 rs11553107 0.005 missenseCGln [Q]1136
contig referenceGGlu [E]1136
30067586679 rs76767223 0.002byClusterbyFreqWith1000GenomeData0.0058 synonymousGThr [T]3137
contig referenceAThr [T]3137
30067588681 rs1417475385 N.D. missenseGArg [R]2138
contig referenceTLeu [L]2138
30067589682 rs746301013 0.000 synonymousGLeu [L]3138
synonymousTLeu [L]3138
contig referenceCLeu [L]3138
30067592685 rs1161412672 N.D. synonymousTTyr [Y]3139
contig referenceCTyr [Y]3139
30067598691 rs879086664 N.D. synonymousALys [K]3141
contig referenceGLys [K]3141
30067600693 rs1385792025 N.D. missenseTVal [V]2142
contig referenceCAla [A]2142
30067601694 rs772550893 0.000byFreq synonymousAAla [A]3142
contig referenceGAla [A]3142
30067611704 rs776187312 0.000byFreq missenseTCys [C]1146
contig referenceCArg [R]1146
30067612705 rs747482925 0.000byFreq missenseAHis [H]2146
contig referenceGArg [R]2146
30067615708 rs1197901369 N.D. missenseGArg [R]2147
contig referenceCPro [P]2147
30067616709 rs768645456 0.000byFreq synonymousTPro [P]3147
contig referenceCPro [P]3147
30067620713 rs974593021 N.D. missenseAThr [T]1149
contig referenceCPro [P]1149
30067621714 rs776721459 0.000 missenseTLeu [L]2149
contig referenceCPro [P]2149
30067622715 rs1333749052 N.D. synonymousTPro [P]3149
contig referenceCPro [P]3149
30067623716 rs761952634 0.000 nonsenseT1150
contig referenceCGln [Q]1150
30067625718 rs765436514 0.000 synonymousGGln [Q]3150
contig referenceAGln [Q]3150
30067626719 rs773422001 0.000byFreq missenseAIle [I]1151
contig referenceGVal [V]1151
30067629722 rs1030625591 N.D. missenseGVal [V]1152
contig referenceAIle [I]1152
30067630723 rs1204478196 N.D. missenseCThr [T]2152
contig referenceTIle [I]2152
30067633726 rs1259645861 N.D. missenseCThr [T]2153
contig referenceALys [K]2153
30067643736 rs1443908660 N.D. synonymousTGly [G]3156
contig referenceCGly [G]3156
30067644737 rs762797482 0.000byCluster missenseASer [S]1157
contig referenceGGly [G]1157
30067646739 rs142231603 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousAGly [G]3157
contig referenceTGly [G]3157
30067650743 rs570385246 0.000byCluster missenseTLeu [L]1159
contig referenceGVal [V]1159
30067655748 rs1184628720 N.D. synonymousTGly [G]3160
contig referenceCGly [G]3160
30067656749 rs754905488 0.000 missenseCLeu [L]1161
contig referenceAIle [I]1161
30067657750 rs1453230387 N.D. missenseGSer [S]2161
contig referenceTIle [I]2161
30067658751 rs766960395 0.000 synonymousTIle [I]3161
contig referenceCIle [I]3161
30067660753 rs1405041987 N.D. missenseGArg [R]2162
contig referenceALys [K]2162
30067661754 rs1435689110 N.D. synonymousALys [K]3162
contig referenceGLys [K]3162
30068646755 rs1360998512 N.D. missenseTLeu [L]1163
contig referenceGVal [V]1163
30068647756 rs749536126 0.000 missenseCAla [A]2163
contig referenceTVal [V]2163
30068649758 rs1436617013 N.D. missenseCHis [H]1164
contig referenceGAsp [D]1164
30068651760 rs1489166311 N.D. synonymousTAsp [D]3164
contig referenceCAsp [D]3164
30068653762 rs1295320794 N.D. missenseGArg [R]2165
contig referenceALys [K]2165
30068657766 rs145811469 0.000byClusterbyFreq synonymousTGly [G]3166
contig referenceCGly [G]3166
30068658767 rs148193398 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAMet [M]1167
contig referenceGVal [V]1167
30068659768 rs759432221 0.000 missenseCAla [A]2167
contig referenceTVal [V]2167
30068661770 rs1318820363 N.D. missenseCLeu [L]1168
contig referenceGVal [V]1168
30068664773 rs771740082 0.000byFreq missenseTSer [S]1169
contig referenceCPro [P]1169
30068665774 rs1035548522 N.D. missenseTLeu [L]2169
contig referenceCPro [P]2169
30068667776 rs201627751 0.000byClusterWith1000GenomeData0.0002 missenseGVal [V]1170
contig referenceCLeu [L]1170
30068669778 rs141220324 0.000byCluster synonymousCLeu [L]3170
contig referenceGLeu [L]3170
30068670779 rs760489629 0.000byFreq missenseCPro [P]1171
contig referenceGAla [A]1171
30068671780 rs763716015 0.000byFreq missenseGGly [G]2171
contig referenceCAla [A]2171
30068674783 rs753336912 0.000 missenseAGlu [E]2172
contig referenceGGly [G]2172
30068675784 rs761558801 0.000 synonymousAGly [G]3172
contig referenceGGly [G]3172
30068677786 rs765047249 0.000byFreq missenseALys [K]2173
missenseTIle [I]2173
contig referenceCThr [T]2173
30068679788 rs775705038 0.000byFreq missenseGAsp [D]1174
missenseTTyr [Y]1174
contig referenceAAsn [N]1174
30068683792 rs1212631216 N.D. missenseAAsp [D]2175
contig referenceGGly [G]2175
30068684793 rs781380448 0.000byFreq synonymousTGly [G]3175
contig referenceCGly [G]3175
30068685794 rs753278862 0.000 missenseALys [K]1176
contig referenceGGlu [E]1176
30068685794 rs1279058686 N.D. frame shiftAAsp [D]1177
contig reference-Thr [T]1177
30068689798 rs1026275202 N.D. missenseGSer [S]2177
contig referenceCThr [T]2177
30068691800 rs1343401491 N.D. missenseGAla [A]1178
contig referenceAThr [T]1178
30068692801 rs1281790823 N.D. missenseTIle [I]2178
contig referenceCThr [T]2178
30068693802 rs1451583563 N.D. synonymousTThr [T]3178
contig referenceCThr [T]3178
30068696805 rs1314435604 N.D. synonymousGThr [T]3179
contig referenceCThr [T]3179
30068699808 rs756568720 0.000 missenseCHis [H]3180
contig referenceAGln [Q]3180
30068819811 rs1231753719 N.D. synonymousAGly [G]3181
contig referenceGGly [G]3181
30068828820 rs1456118718 N.D. synonymousAGly [G]3184
contig referenceGGly [G]3184
30068831823 rs1195410437 N.D. synonymousTLeu [L]3185
contig referenceGLeu [L]3185
30068838830 rs11553113 0.000byClusterbyFreq missenseTCys [C]1188
contig referenceCArg [R]1188
30068839831 rs778814633 0.000byFreq missenseAHis [H]2188
contig referenceGArg [R]2188
30068841833 rs1340448103 N.D. missenseASer [S]1189
contig referenceTCys [C]1189
30068847839 rs746119840 0.000 nonsenseT1191
contig referenceCGln [Q]1191
30068848840 rs1283845684 N.D. missenseTLeu [L]2191
contig referenceAGln [Q]2191
30068852844 rs758491170 0.000 nonsenseG3192
synonymousTTyr [Y]3192
contig referenceCTyr [Y]3192
30068853845 rs1347081354 N.D. -1194
30068854846 rs779902973 0.000 missenseCThr [T]2193
contig referenceALys [K]2193
30068858850 rs746865548 0.000 synonymousALys [K]3194
contig referenceGLys [K]3194
30068858850 rs1381080310 N.D. frame shift-Glu [E]3195
contig referenceGGACAsp [D]3195
30068861853 rs150741747 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTAsp [D]3195
contig referenceCAsp [D]3195
30068862854 rs1386172871 N.D. missenseAArg [R]1196
contig referenceGGly [G]1196
30068863855 rs11553108 0.005 missenseTVal [V]2196
contig referenceGGly [G]2196
30068864856 rs776760013 0.000byFreq synonymousCGly [G]3196
contig referenceAGly [G]3196
30068866858 rs748069154 0.000byFreq missenseGGly [G]2197
contig referenceCAla [A]2197
30068867859 rs751360534 N.D. synonymousCAla [A]3197
contig referenceTAla [A]3197
30068873865 rs769378422 0.000byFreq synonymousTPhe [F]3199
contig referenceCPhe [F]3199
30068874866 rs1439374477 N.D. missenseAThr [T]1200
missenseTSer [S]1200
contig referenceGAla [A]1200
30068883875 rs772548302 0.000 missenseTCys [C]1203
contig referenceCArg [R]1203
30068884876 rs762685202 0.000 missenseAHis [H]2203
contig referenceGArg [R]2203
30068885877 rs765883841 0.000byFreq synonymousCArg [R]3203
contig referenceTArg [R]3203
30068886878 rs773990488 0.000 missenseASer [S]1204
contig referenceTCys [C]1204
30068889881 rs199655729 0.000byClusterbyFreq missenseTLeu [L]1205
contig referenceGVal [V]1205
30068893885 rs764408786 0.000 missenseCPro [P]2206
contig referenceTLeu [L]2206
30068896888 rs754370062 0.000 missenseCThr [T]2207
contig referenceALys [K]2207
30068897889 rs1253115492 N.D. missenseTAsn [N]3207
contig referenceGLys [K]3207
30068904896 rs11553116 N.D. missenseALys [K]1210
contig referenceGGlu [E]1210
30068906898 rs1242243725 N.D. synonymousGGlu [E]3210
contig referenceAGlu [E]3210
30068907899 rs757708727 0.000 missenseGAsp [D]1211
contig referenceCHis [H]1211
30068911903 rs569354275 0.000byClusterbyFreq missenseAAsn [N]2212
missenseGSer [S]2212
missenseTIle [I]2212
contig referenceCThr [T]2212
30068912904 rs1243561565 N.D. synonymousGThr [T]3212
synonymousTThr [T]3212
contig referenceCThr [T]3212
30068914906 rs1475655371 N.D. missenseTLeu [L]2213
contig referenceCPro [P]2213
30068915907 rs758499704 0.000byFreq synonymousGPro [P]3213
contig referenceCPro [P]3213
30068918910 rs1421812905 N.D. synonymousTSer [S]3214
contig referenceASer [S]3214
30068920912 rs1463243958 N.D. missenseTVal [V]2215
contig referenceCAla [A]2215
30068922914 rs1165689921 N.D. missenseTPhe [F]1216
contig referenceCLeu [L]1216
30068924916 rs112110009 0.001byClusterbyFreqWith1000GenomeData0.0002 synonymousGLeu [L]3216
synonymousTLeu [L]3216
contig referenceCLeu [L]3216
30068925917 rs761705909 0.000 missenseAThr [T]1217
contig referenceGAla [A]1217
30068926918 rs1320931574 N.D. missenseTVal [V]2217
contig referenceCAla [A]2217
30068928920 rs1289395619 N.D. missenseGVal [V]1218
contig referenceAIle [I]1218
30068930922 rs11553120 N.D. synonymousTIle [I]3218
contig referenceCIle [I]3218
30068941933 rs1217024684 N.D. missenseTVal [V]2222
contig referenceCAla [A]2222
30068942934 rs1054906346 N.D. synonymousTAla [A]3222
contig referenceCAla [A]3222
30068944936 rs142957871 0.000byClusterbyFreq missenseGSer [S]2223
contig referenceAAsn [N]2223
30068946938 rs1269194782 N.D. missenseAIle [I]1224
contig referenceGVal [V]1224
30068955947 rs374042346 0.000byClusterbyFreq missenseASer [S]1227
missenseTCys [C]1227
contig referenceCArg [R]1227
30068956948 rs769563671 0.000 missenseAHis [H]2227
missenseTLeu [L]2227
contig referenceGArg [R]2227
30068962954 rs1273198990 N.D. frame shift-Val [V]2230
contig referenceCSer [S]2230
30068963955 rs1333526782 N.D. synonymousTAla [A]3229
contig referenceCAla [A]3229
30068965957 rs11553121 N.D. missenseCThr [T]2230
contig referenceGSer [S]2230
30068967959 rs1207982491 N.D. missenseGVal [V]1231
contig referenceAIle [I]1231
30068972964 rs772786469 0.000 synonymousTCys [C]3232
contig referenceCCys [C]3232
30068975967 rs748819122 0.000byFreq missenseCHis [H]3233
contig referenceGGln [Q]3233
30069310975 rs1377645073 N.D. missenseTVal [V]2236
contig referenceGGly [G]2236
30069312977 rs1435788997 N.D. missenseGVal [V]1237
contig referenceAIle [I]1237
30069316981 rs1399483613 N.D. missenseCAla [A]2238
contig referenceTVal [V]2238
30069317982 rs201519764 0.000byCluster synonymousAVal [V]3238
contig referenceGVal [V]3238
30069318983 rs1401005755 N.D. missenseTSer [S]1239
contig referenceCPro [P]1239
30069320985 rs1393953617 N.D. synonymousTPro [P]3239
contig referenceCPro [P]3239
30069323988 rs573479181 0.000byFreqWith1000GenomeData0.0008 synonymousTIle [I]3240
contig referenceCIle [I]3240
30069324989 rs1335840967 N.D. missenseAMet [M]1241
missenseCLeu [L]1241
contig referenceGVal [V]1241
300693361001 rs1239332534 N.D. missenseGVal [V]1245
contig referenceAIle [I]1245
300693411006 rs763478106 0.000 synonymousTLeu [L]3246
contig referenceCLeu [L]3246
300693471012 rs1349758007 N.D. synonymousCAsp [D]3248
contig referenceTAsp [D]3248
300693521017 rs3112557 N.D.byCluster missenseCAla [A]2250
contig referenceAAsp [D]2250
300693541019 rs766590264 0.000 missenseTTyr [Y]1251
contig referenceCHis [H]1251
300693621027 rs751632844 0.000 synonymousALeu [L]3253
contig referenceGLeu [L]3253
300693651030 rs759847191 0.000 synonymousALys [K]3254
contig referenceGLys [K]3254
300693661031 rs372394541 N.D.byCluster missenseTCys [C]1255
contig referenceCArg [R]1255
300693671032 rs534264493 0.000byFreqWith1000GenomeData0.0002 missenseAHis [H]2255
contig referenceGArg [R]2255
300693711036 rs1251251736 N.D. synonymousTCys [C]3256
contig referenceCCys [C]3256
300693751040 rs754308973 N.D.byCluster missenseCHis [H]1258
contig referenceTTyr [Y]1258
300693761041 rs1437380454 N.D. missenseGCys [C]2258
contig referenceATyr [Y]2258
300693771042 rs369668963 0.000byCluster synonymousCTyr [Y]3258
contig referenceTTyr [Y]3258
300693791044 rs755913779 0.000 missenseAGlu [E]2259
contig referenceTVal [V]2259
300693821047 rs777581671 0.000 missenseGSer [S]2260
contig referenceCThr [T]2260
300693831048 rs1173353127 N.D. synonymousTThr [T]3260
contig referenceCThr [T]3260
300695091065 rs754601084 0.000byFreq missenseTVal [V]2266
contig referenceCAla [A]2266
300695101066 rs146109120 0.000byCluster synonymousAAla [A]3266
contig referenceTAla [A]3266
300695111067 rs140201659 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseCLeu [L]1267
contig referenceGVal [V]1267
300695151071 rs1417726499 N.D. missenseGCys [C]2268
contig referenceATyr [Y]2268
300695161072 rs546577561 0.000byFreqWith1000GenomeData0.0002 synonymousTTyr [Y]3268
contig referenceCTyr [Y]3268
300695171073 rs992903483 N.D. missenseGGlu [E]1269
contig referenceALys [K]1269
300695191075 rs1455309434 N.D. missenseTAsn [N]3269
contig referenceGLys [K]3269
300695201076 rs775049666 0.000 missenseAThr [T]1270
contig referenceGAla [A]1270
300695211077 rs1430448581 N.D. missenseTVal [V]2270
contig referenceCAla [A]2270
300695231079 rs746350079 0.000 missenseAMet [M]1271
synonymousTLeu [L]1271
contig referenceCLeu [L]1271
300695251081 rs772297021 0.000byFreq synonymousCLeu [L]3271
contig referenceGLeu [L]3271
300695291085 rs1295410010 N.D. missenseAAsn [N]1273
contig referenceGAsp [D]1273
300695311087 rs775578709 0.000byFreq synonymousTAsp [D]3273
contig referenceCAsp [D]3273
300695331089 rs760807537 0.000 missenseGArg [R]2274
contig referenceAHis [H]2274
300695341090 rs764440580 0.000 synonymousTHis [H]3274
contig referenceCHis [H]3274
300695351091 rs182063751 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]1275
contig referenceCHis [H]1275
300695371093 rs199653623 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTHis [H]3275
contig referenceCHis [H]3275
300695401096 rs764984222 0.000byFreq synonymousTIle [I]3276
contig referenceCIle [I]3276
300695421098 rs1197828857 N.D. missenseGCys [C]2277
contig referenceATyr [Y]2277
300695431099 rs1449676396 N.D. synonymousTTyr [Y]3277
contig referenceCTyr [Y]3277
300695491105 rs1253487208 N.D. synonymousGGlu [E]3279
contig referenceAGlu [E]3279
300695591115 rs11553109 N.D. synonymousTLeu [L]1283
contig referenceCLeu [L]1283
300695641120 rs3134626 N.D. synonymousALys [K]3284
contig referenceGLys [K]3284
300695671123 rs142242422 0.000byClusterbyFreq synonymousTPro [P]3285
contig referenceCPro [P]3285
300695711127 rs758285007 0.000byFreq missenseGVal [V]1287
contig referenceAMet [M]1287
300695731129 rs550915077 0.001byClusterbyFreqWith1000GenomeData0.0010 missenseAIle [I]3287
missenseCIle [I]3287
contig referenceGMet [M]3287
300695741130 rs754442562 0.000 missenseAIle [I]1288
contig referenceGVal [V]1288
300695781134 rs1420735059 N.D. missenseTIle [I]2289
contig referenceCThr [T]2289
300695791135 rs1159829609 N.D. synonymousTThr [T]3289
contig referenceCThr [T]3289
300695841140 rs780958986 0.000 missenseCAla [A]2291
contig referenceGGly [G]2291
300695871143 rs770093075 0.000byFreq missenseGArg [R]2292
contig referenceAHis [H]2292
300695881144 rs757739728 0.000 missenseGGln [Q]3292
contig referenceTHis [H]3292
300695891145 rs779383902 0.000 missenseAThr [T]1293
contig referenceGAla [A]1293
300695901146 rs746388986 0.000 missenseGGly [G]2293
contig referenceCAla [A]2293
300695911147 rs772559518 0.000 synonymousCAla [A]3293
contig referenceTAla [A]3293
300695941150 rs1375622969 N.D. nonsenseA3294
contig referenceCCys [C]3294
300695961152 rs944420954 N.D. missenseGSer [S]2295
missenseTIle [I]2295
contig referenceCThr [T]2295
300695981154 rs375434995 0.000byClusterbyFreq missenseGGlu [E]1296
contig referenceCGln [Q]1296
300696031159 rs1040451681 N.D. missenseCAsn [N]3297
contig referenceGLys [K]3297
300696071163 rs1371517676 N.D. missenseCPro [P]1299
contig referenceTSer [S]1299
300696081164 rs1220713095 N.D. missenseTPhe [F]2299
contig referenceCSer [S]2299
300696091165 rs3134627 N.D. synonymousASer [S]3299
contig referenceTSer [S]3299
300696101166 rs144693278 0.000byClusterbyFreq missenseTTyr [Y]1300
contig referenceCHis [H]1300
300696111167 rs768596159 0.000byFreq missenseGArg [R]2300
contig referenceAHis [H]2300
300696131169 rs770097934 0.000 -1302
300696171173 rs776950855 0.000 missenseCAla [A]2302
contig referenceAGlu [E]2302
300696181174 rs1311520999 N.D. synonymousAGlu [E]3302
contig referenceGGlu [E]3302
300696241180 rs1171957249 N.D. synonymousTAla [A]3304
contig referenceCAla [A]3304
300696291185 rs888329113 N.D. missenseTVal [V]2306
contig referenceCAla [A]2306
300696301186 rs761982199 0.000 synonymousAAla [A]3306
contig referenceGAla [A]3306
300696321188 rs1259356725 N.D. missenseTIle [I]2307
contig referenceCThr [T]2307
300696331189 rs148503847 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousTThr [T]3307
contig referenceCThr [T]3307
300696341190 rs142759891 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAIle [I]1308
contig referenceGVal [V]1308
300696361192 rs1230794965 N.D. frame shiftAAsn [N]3309
contig reference-Thr [T]3309
300696371193 rs762881835 0.000byFreq missenseGAla [A]1309
contig referenceAThr [T]1309
300696381194 rs368207656 0.000byClusterbyFreq missenseTIle [I]2309
contig referenceCThr [T]2309
300696391195 rs1448266956 N.D. synonymousGThr [T]3309
contig referenceAThr [T]3309
300696411197 rs201658390 0.000byClusterbyFreq missenseTVal [V]2310
contig referenceCAla [A]2310
300696421198 rs759139411 0.000 synonymousAAla [A]3310
contig referenceGAla [A]3310
300696431199 rs766907546 0.000byFreq missenseAMet [M]1311
contig referenceCLeu [L]1311
300696461202 rs752431778 0.000byFreq missenseTCys [C]1312
contig referenceCArg [R]1312
300696471203 rs151069138 0.000byClusterbyFreq missenseAHis [H]2312
contig referenceGArg [R]2312
300696481204 rs900867408 N.D. synonymousTArg [R]3312
contig referenceCArg [R]3312
300696491205 rs779421883 0.000byFreq missenseTCys [C]1313
contig referenceCArg [R]1313
300696501206 rs750880048 0.000byFreq missenseAHis [H]2313
missenseTLeu [L]2313
contig referenceGArg [R]2313
300696541210 rs1020363624 N.D. synonymousGThr [T]3314
contig referenceAThr [T]3314
300696571213 rs773601711 0.000byFreq frame shiftCArg [R]3318
contig reference-Ala [A]3318
300696571213 rs780658545 0.000byFreq synonymousCVal [V]3315
contig referenceGVal [V]3315
300696581214 rs1002926886 N.D. missenseTSer [S]1316
contig referenceCPro [P]1316
300696601216 rs1331225942 N.D. synonymousAPro [P]3316
contig referenceCPro [P]3316
300696611217 rs1028052840 N.D. missenseTSer [S]1317
contig referenceCPro [P]1317
300696631219 rs747443135 0.000byFreq synonymousAPro [P]3317
synonymousTPro [P]3317
contig referenceCPro [P]3317
300696641220 rs781198918 0.000 missenseAThr [T]1318
missenseTSer [S]1318
contig referenceGAla [A]1318
300696691225 rs748384981 0.000 synonymousAVal [V]3319
contig referenceCVal [V]3319
300698301230 rs201610579 0.000byClusterbyFreq missenseCAla [A]2321
contig referenceGGly [G]2321
300698311231 rs147193284 0.000byFreqWith1000GenomeData0.0002 synonymousAGly [G]3321
synonymousCGly [G]3321
contig referenceGGly [G]3321
300698321232 rs1322492724 N.D. missenseCLeu [L]1322
contig referenceAIle [I]1322
300698341234 rs749551179 0.000byFreq synonymousTIle [I]3322
contig referenceCIle [I]3322
300698371237 rs1188281732 N.D. synonymousTThr [T]3323
contig referenceCThr [T]3323
300698411241 rs111252736 0.002byClusterbyFreqWith1000GenomeData0.0004 synonymousTLeu [L]1325
contig referenceCLeu [L]1325
300698431243 rs374231136 0.000byCluster synonymousALeu [L]3325
contig referenceGLeu [L]3325
300698461246 rs1160874464 N.D. synonymousASer [S]3326
contig referenceTSer [S]3326
300698491249 rs1381296201 N.D. synonymousTGly [G]3327
contig referenceAGly [G]3327
300698541254 rs1298208531 N.D. missenseGArg [R]2329
contig referenceAGln [Q]2329
300698561256 rs202079871 0.000byClusterWith1000GenomeData0.0002 missenseTCys [C]1330
contig referenceASer [S]1330
300698611261 rs186320122 0.000byClusterWith1000GenomeData0.0002 synonymousAGlu [E]3331
contig referenceGGlu [E]3331
300698621262 rs767214133 N.D. missenseALys [K]1332
contig referenceGGlu [E]1332
300698631263 rs771967749 0.000 missenseGGly [G]2332
missenseTVal [V]2332
contig referenceAGlu [E]2332
300698641264 rs565013143 0.001byFreqWith1000GenomeData0.0002 missenseCAsp [D]3332
synonymousAGlu [E]3332
contig referenceGGlu [E]3332
300698681268 rs3098416 N.D. missenseCPro [P]1334
contig referenceGAla [A]1334
300698701270 rs532473202 0.000byFreqWith1000GenomeData0.0004 synonymousAAla [A]3334
synonymousCAla [A]3334
contig referenceGAla [A]3334
300698711271 rs901107752 N.D. missenseAThr [T]1335
contig referenceTSer [S]1335
300698791279 rs563447533 0.000byClusterbyFreq missenseALys [K]3337
synonymousTAsn [N]3337
contig referenceCAsn [N]3337
300698811281 rs1055857936 N.D. missenseAHis [H]2338
missenseCPro [P]2338
contig referenceTLeu [L]2338
300698821282 rs1436950741 N.D. synonymousGLeu [L]3338
contig referenceCLeu [L]3338
300698841284 rs543994647 0.000byFreqWith1000GenomeData0.0002 missenseGSer [S]2339
contig referenceAAsn [N]2339
300698931293 rs1339369198 N.D. missenseTIle [I]2342
contig referenceAAsn [N]2342
300698971297 rs772908246 0.000byFreq synonymousALys [K]3343
contig referenceGLys [K]3343
300698981298 rs1281263847 N.D. missenseCArg [R]1344
contig referenceTCys [C]1344
300698991299 rs759944428 0.000byFreq missenseATyr [Y]2344
missenseCSer [S]2344
contig referenceGCys [C]2344
300699001300 rs767840312 0.000byFreq synonymousTCys [C]3344
contig referenceCCys [C]3344
300699011301 rs1283651383 N.D. missenseTSer [S]1345
contig referenceCPro [P]1345
300699041304 rs1350257048 N.D. synonymousTLeu [L]1346
contig referenceCLeu [L]1346
300699081308 rs562390740 0.000With1000GenomeData0.0002 missenseCPro [P]2347
contig referenceTLeu [L]2347
300699091309 rs756568844 0.000 synonymousALeu [L]3347
contig referenceGLeu [L]3347
300699151315 rs889500566 N.D. synonymousTPro [P]3349
contig referenceCPro [P]3349
300699191319 rs764176104 0.000 missenseAThr [T]1351
missenseTSer [S]1351
contig referenceGAla [A]1351
300699201320 rs1239357764 N.D. missenseTVal [V]2351
contig referenceCAla [A]2351
300699241324 rs753928604 0.000 synonymousALeu [L]3352
contig referenceGLeu [L]3352
300699271327 rs1449322674 N.D. -3354
300699301330 rs760550827 0.000 -3355
300699331333 rs3207373 N.D. synonymousTSer [S]3355
contig referenceCSer [S]3355
300699351335 rs757343704 0.000 missenseCSer [S]2356
contig referenceATyr [Y]2356
300699361336 rs200761497 0.000byClusterbyFreq synonymousTTyr [Y]3356
contig referenceCTyr [Y]3356
300699371337 rs746068220 0.000byFreq missenseASer [S]1357
contig referenceGGly [G]1357
300699381338 rs1400844239 N.D. missenseAAsp [D]2357
contig referenceGGly [G]2357
300699401340 rs1393835385 N.D. nonsenseT1358
contig referenceCArg [R]1358
300699411341 rs1332829045 N.D. missenseAGln [Q]2358
contig referenceGArg [R]2358
300699481348 rs147612848 0.000byClusterbyFreq synonymousALeu [L]3360
synonymousTLeu [L]3360
contig referenceGLeu [L]3360
300699531353 rs1445975674 N.D. missenseTVal [V]2362
contig referenceCAla [A]2362
300699541354 rs1306729484 N.D. synonymousTAla [A]3362
contig referenceCAla [A]3362
300699561356 rs1220595306 N.D. missenseGCys [C]2363
contig referenceCSer [S]2363
300699581358 rs1332681669 N.D. missenseAThr [T]1364
contig referenceGAla [A]1364
300699591359 rs746955557 0.000 missenseTVal [V]2364
contig referenceCAla [A]2364
300699601360 rs1255676784 N.D. synonymousTAla [A]3364
contig referenceCAla [A]3364
300699611361 rs1342918648 N.D. missenseGVal [V]1365
contig referenceCLeu [L]1365
300699661366 rs999100666 N.D. missenseTAsn [N]3366
contig referenceGLys [K]3366
300699721372 rs768647554 0.000byFreq missenseTCys [C]3368
contig referenceGTrp [W]3368
300699751375 rs142315181 0.000byClusterbyFreq synonymousTGly [G]3369
contig referenceCGly [G]3369
300699751375 rs1484071891 N.D. frame shiftAArg [R]3370
contig reference-Gly [G]3370
300699761376 rs1457665297 N.D. missenseAArg [R]1370
contig referenceGGly [G]1370
300699781378 rs747670144 0.000 synonymousAGly [G]3370
contig referenceGGly [G]3370
300699781378 rs1177319780 N.D. -3372
300699821382 rs769327341 0.000byFreq missenseGGlu [E]1372
contig referenceALys [K]1372
300699841384 rs772781301 0.000 synonymousALys [K]3372
contig referenceGLys [K]3372
300699921392 rs146116144 0.000byCluster missenseCPro [P]2375
contig referenceTLeu [L]2375
300699931393 rs145479598 0.000byClusterbyFreq synonymousALeu [L]3375
contig referenceGLeu [L]3375
300699961396 rs11553105 N.D. synonymousALys [K]3376
contig referenceGLys [K]3376
300699971397 rs34955546 N.D. frame shift-Leu [L]1377
contig referenceGAla [A]1377
300699971397 rs148828956 0.000byClusterbyFreq missenseAThr [T]1377
missenseCPro [P]1377
missenseTSer [S]1377
contig referenceGAla [A]1377
300699981398 rs761178874 0.000 missenseTVal [V]2377
contig referenceCAla [A]2377
300700021402 rs530089317 0.000byFreqWith1000GenomeData0.0004 synonymousAAla [A]3378
contig referenceGAla [A]3378
300700091409 rs375546208 0.000byClusterbyFreq missenseALys [K]1381
contig referenceGGlu [E]1381
300700111411 rs1329301127 N.D. synonymousAGlu [E]3381
contig referenceGGlu [E]3381
300700131413 rs1280948265 N.D. missenseTPhe [F]2382
contig referenceATyr [Y]2382
300700191419 rs761836264 0.000byFreq missenseGArg [R]2384
missenseTMet [M]2384
contig referenceALys [K]2384
300700201420 rs1387173481 N.D. synonymousALys [K]3384
contig referenceGLys [K]3384
300700211421 rs750630916 0.000byFreq nonsenseT1385
synonymousAArg [R]1385
contig referenceCArg [R]1385
300700221422 rs1329509300 N.D. missenseAGln [Q]2385
contig referenceGArg [R]2385
300700271427 rs779998693 0.000 synonymousTLeu [L]1387
contig referenceCLeu [L]1387
300700291429 rs1278848765 N.D. synonymousALeu [L]3387
contig referenceGLeu [L]3387
300701181431 rs757847386 0.000 missenseTVal [V]2388
contig referenceCAla [A]2388
300701191432 rs1467065639 N.D. synonymousTAla [A]3388
contig referenceCAla [A]3388
300701211434 rs369551047 0.000byClusterbyFreq missenseGSer [S]2389
contig referenceAAsn [N]2389
300701241437 rs756734032 0.000 missenseAAsn [N]2390
missenseCThr [T]2390
contig referenceGSer [S]2390
300701261439 rs778572895 0.000byFreq missenseTPhe [F]1391
contig referenceCLeu [L]1391
300701341447 rs1424253749 N.D. synonymousCCys [C]3393
contig referenceTCys [C]3393
300701371450 rs143419532 0.000byClusterbyFreqWith1000GenomeData0.0010 synonymousGGln [Q]3394
contig referenceAGln [Q]3394
300701401453 rs1366484469 N.D. frame shift-Ser [S]3396
contig referenceALys [K]3396
300701411454 rs1421338770 N.D. missenseGGlu [E]1396
contig referenceALys [K]1396
300701431456 rs768921360 0.000 synonymousALys [K]3396
contig referenceGLys [K]3396
300701471460 rs776994056 0.000 missenseTSer [S]1398
contig referenceAThr [T]1398
300701481461 rs1398401558 N.D. missenseTIle [I]2398
contig referenceCThr [T]2398
300701491462 rs1181780653 N.D. synonymousCThr [T]3398
contig referenceTThr [T]3398
300701511464 rs1304593995 N.D. missenseGArg [R]2399
missenseTLeu [L]2399
contig referenceCPro [P]2399
300701521465 rs748606517 0.000 synonymousAPro [P]3399
synonymousCPro [P]3399
contig referenceGPro [P]3399
300701541467 rs1395945999 N.D. missenseTIle [I]2400
contig referenceGSer [S]2400
300701551468 rs77290575 0.039byClusterbyFreqWith1000GenomeData0.0212 synonymousTSer [S]3400
contig referenceCSer [S]3400
300701561469 rs138824667 0.005byClusterbyFreqWith1000GenomeData0.0008 missenseASer [S]1401
missenseTCys [C]1401
contig referenceGGly [G]1401
300701571470 rs1240391681 N.D. missenseAAsp [D]2401
contig referenceGGly [G]2401
300701631476 rs1261199026 N.D. missenseGGly [G]2403
contig referenceCAla [A]2403
300701681481 rs1210316079 N.D. -1407
300701691482 rs769860227 0.000 missenseTVal [V]2405
contig referenceCAla [A]2405
300701701483 rs1285775935 N.D. GCTGCC [AA]3407
300701731486 rs1267071413 N.D. synonymousCAla [A]3406
contig referenceTAla [A]3406
300701761489 rs1352450798 N.D. synonymousTAla [A]3407
contig referenceCAla [A]3407
300701771490 rs1213215665 N.D. missenseGGly [G]1408
contig referenceASer [S]1408
300701781491 rs766537404 0.000 missenseCThr [T]2408
missenseTIle [I]2408
contig referenceGSer [S]2408
300701791492 rs554392023 0.000byFreqWith1000GenomeData0.0002 synonymousTSer [S]3408
contig referenceCSer [S]3408
300701801493 rs759758697 0.000byFreq missenseALys [K]1409
contig referenceGGlu [E]1409
300701821495 rs1019851012 N.D. missenseTAsp [D]3409
contig referenceGGlu [E]3409
300701861499 rs753723817 0.000 frame shift-Thr [T]1412
contig reference(10bp)Phe [F]1412
300701881501 rs3169548 0.000byFreq synonymousTLeu [L]3411
contig referenceCLeu [L]3411
300701911504 rs1061406 0.000byClusterbyFreq synonymousTPhe [F]3412
contig referenceCPhe [F]3412
300701921505 rs373670009 0.000byClusterbyFreq missenseAIle [I]1413
contig referenceGVal [V]1413
300701941507 rs764063310 0.000byFreq synonymousTVal [V]3413
contig referenceCVal [V]3413
300701961509 rs1359793740 N.D. missenseATyr [Y]2414
contig referenceCSer [S]2414
300702031516 rs753739488 0.000 synonymousTHis [H]3416
contig referenceCHis [H]3416
300702041517 rs756789043 0.000 missenseAThr [T]1417
contig referenceGAla [A]1417
300702051518 rs778342113 0.000byFreq missenseTVal [V]2417
contig referenceCAla [A]2417
300702061519 rs745518404 0.000byFreq synonymousTAla [A]3417
contig referenceCAla [A]3417
300702081521 rs1014492242 N.D. missenseGCys [C]2418
contig referenceATyr [Y]2418
300702111524 rs1308894957 N.D. CSer [S]2419
contig referenceA2419
300702121525 rs1158197949 N.D. synonymousG3419
contig referenceA3419