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dbSNP

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SNP linked to Gene (geneID:9968) Via Contig Annotation

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

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_005120.2plus strandNP_005111.2forwardNT_011651.18GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_011651.18NM_005120.2NP_005111.2forwardplus strand707, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Clinically
Associated
Clinical
Significance
Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
71118759204 rs866295169 N.D. missenseTVal [V]22
contig referenceCAla [A]22
71118774219 rs758482018 0.000 missenseGTrp [W]27
contig referenceTLeu [L]27
71118781226 rs376743527 0.000byClusterbyFreq synonymousTTyr [Y]39
contig referenceCTyr [Y]39
71118787232 rs1018272698 N.D. synonymousTHis [H]311
contig referenceCHis [H]311
71118794239 rs747105314 0.000 missenseGVal [V]114
contig referenceCLeu [L]114
71118800245 rs749802630 0.000byClusterWith1000GenomeData0.0003 synonymousAArg [R]116
contig referenceCArg [R]116
71118808253 rs781452716 0.000byFreq synonymousAArg [R]318
contig referenceGArg [R]318
71118812257 rs746256454 0.000 missenseAArg [R]120
contig referenceGGly [G]120
71118814259 rs770218060 0.000 synonymousAGly [G]320
contig referenceGGly [G]320
71118818263 rs863223711 N.D. Likely pathogenicmissenseTSer [S]122
contig referenceCPro [P]122
71118825270 rs778396432 0.000 frame shift-Thr [T]225
contig referenceTTyr [Y]225
71118829274 rs747588961 0.000 frame shift-325
contig referenceCCCTCTyr [Y]325
71118830275 rs776154055 0.000byFreq missenseGAla [A]126
contig referenceCPro [P]126
71118836281 rs371385969 0.000byCluster missenseAAsn [N]128
contig referenceGAsp [D]128
71118851296 rs769202858 0.000 missenseALys [K]133
contig referenceGGlu [E]133
71119376302 rs199469678 N.D. untested-135
71119378304 rs746030482 0.000 synonymousGGlu [E]335
contig referenceAGlu [E]335
71119380306 rs199469667 N.D. untestedmissenseGArg [R]236
contig referenceTLeu [L]236
71119380306 rs199469679 N.D. untestedGCArg [R]236
71119382308 rs770128096 0.000 missenseTSer [S]137
contig referenceAThr [T]137
71119384310 rs199469681 N.D. untested-338
71119386312 rs199469682 N.D. untested-238
71119390316 rs199469683 N.D. untested-340
71119391317 rs199469680 N.D. untestedTATyr [Y]140
71119391317 rs199469684 N.D. untested-140
71119391317 rs199469685 N.D. untestedTTPhe [F]140
71119393319 rs1048534705 N.D. synonymousCAsn [N]340
contig referenceTAsn [N]340
71119395321 rs199469686 N.D. untested-241
71119395321 rs199469687 N.D. untested-241
71119396322 rs199469688 N.D. untested-342
71119399325 rs199469689 N.D. untested-Asn [N]342
71119399325 rs199469690 N.D. untested-342
71119401327 rs199469668 N.D. untestedmissenseCPro [P]243
contig referenceAGln [Q]243
71119402328 rs199469691 N.D. untested-His [H]343
71119402328 rs199469692 N.D. untested-344
71119402328 rs780634712 0.000byFreq synonymousGGln [Q]343
contig referenceAGln [Q]343
71119403329 rs199469669 N.D.byCluster untestedmissenseASer [S]144
missenseCArg [R]144
missenseTCys [C]144
contig referenceGGly [G]144
71119404330 rs199469672 0.000byCluster untestedmissenseAAsp [D]244
missenseCAla [A]244
missenseTVal [V]244
contig referenceGGly [G]244
71119406332 rs199469693 N.D. untested-145
71119410336 rs769095144 0.000byFreq missenseGSer [S]246
contig referenceAAsn [N]246
71119420346 rs774875020 0.000 synonymousAPro [P]349
contig referenceTPro [P]349
71119422348 rs199469694 N.D. untested-250
71119441367 rs760138274 0.000byFreq synonymousCHis [H]356
contig referenceTHis [H]356
71119456382 rs770411750 0.000byFreq synonymousTAsn [N]361
contig referenceCAsn [N]361
71119457383 rs1039763693 N.D. missenseAIle [I]162
contig referenceGVal [V]162
71119474400 rs374555675 0.000 synonymousGAla [A]367
contig referenceCAla [A]367
71119477403 rs863223707 N.D. Uncertain significancesynonymousALys [K]368
contig referenceGLys [K]368
71119705423 rs867655376 N.D. missenseTIle [I]275
contig referenceGSer [S]275
71119711429 rs756351657 0.000byClusterWith1000GenomeData0.0003 missenseAAsn [N]277
contig referenceTIle [I]277
71119713431 rs968474929 N.D. missenseAThr [T]178
contig referenceGAla [A]178
71119718436 rs779295599 0.000 synonymousAGlu [E]379
contig referenceGGlu [E]379
71119736454 rs979820064 N.D. synonymousTThr [T]385
contig referenceCThr [T]385
71119747465 rs1025072191 N.D. missenseGSer [S]289
contig referenceCThr [T]289
71119778496 rs970455973 N.D. synonymousALys [K]399
contig referenceGLys [K]399
71119787505 rs2471968 N.D. synonymousTPhe [F]3102
contig referenceCPhe [F]3102
71119802520 rs748627661 0.000byFreq synonymousCAla [A]3107
contig referenceAAla [A]3107
71119805523 rs772440501 0.000 synonymousGArg [R]3108
contig referenceAArg [R]3108
71119829547 rs776188083 0.000 missenseTCys [C]3116
contig referenceGTrp [W]3116
71119842560 rs745348543 0.000byFreq missenseTSer [S]1121
contig referenceGAla [A]1121
71119850568 rs769484204 0.000byFreq synonymousAThr [T]3123
contig referenceCThr [T]3123
71119861579 rs775072642 0.000byFreq Benign missenseTMet [M]2127
contig referenceCThr [T]2127
71119862580 rs202125318 0.001byClusterbyFreqWith1000GenomeData0.0011 Uncertain significancesynonymousAThr [T]3127
contig referenceGThr [T]3127
71119865583 rs201566660 0.002byClusterbyFreqWith1000GenomeData0.0024 synonymousGGln [Q]3128
contig referenceAGln [Q]3128
71120016598 rs754050535 0.000 synonymousTVal [V]3133
contig referenceCVal [V]3133
71120040622 rs755316164 0.000 synonymousAGlu [E]3141
contig referenceGGlu [E]3141
71120055637 rs35068602 0.001byClusterbyFreqWith1000GenomeData0.0003 Benign synonymousGLeu [L]3146
contig referenceALeu [L]3146
71120056638 rs748453083 0.000byFreq missenseAThr [T]1147
contig referenceGAla [A]1147
71120065647 rs758980420 0.000 missenseGAla [A]1150
contig referenceAThr [T]1150
71120080662 rs866469400 N.D. missenseTTrp [W]1155
contig referenceCArg [R]1155
71120081663 rs778227705 0.000 missenseAGln [Q]2155
contig referenceGArg [R]2155
71120105687 rs1054032369 N.D. missenseTIle [I]2163
contig referenceCThr [T]2163
71120109691 rs886039163 N.D. Likely benignsynonymousCCys [C]3164
contig referenceTCys [C]3164
71120160742 rs901231883 N.D. synonymousTAsp [D]3181
contig referenceCAsp [D]3181
71120167749 rs745402126 0.000 missenseGVal [V]1184
contig referenceAMet [M]1184
71120983765 rs957409664 N.D. missenseCThr [T]2189
contig referenceTIle [I]2189
71120985767 rs374780236 0.000byClusterbyFreq Uncertain significancemissenseGVal [V]1190
contig referenceAIle [I]1190
71121019801 rs776982089 0.000 missenseCThr [T]2201
contig referenceTMet [M]2201
71121030812 rs765342782 0.000 missenseCHis [H]1205
contig referenceTTyr [Y]1205
71121042824 rs879081113 N.D. missenseTSer [S]1209
contig referenceCPro [P]1209
71121054836 rs200333229 0.000byClusterWith1000GenomeData0.0003 missenseAArg [R]1213
contig referenceGGly [G]1213
71121063845 rs746326251 0.000byClusterWith1000GenomeData0.0003 missenseTCys [C]1216
contig referenceGGly [G]1216
71121070852 rs369083173 0.000byClusterbyFreqWith1000GenomeData0.0005 Uncertain significancemissenseTMet [M]2218
contig referenceCThr [T]2218
71121071853 rs751995503 0.000 synonymousAThr [T]3218
contig referenceGThr [T]3218
71121097879 rs755634255 0.000byFreq missenseCAla [A]2227
contig referenceAGlu [E]2227
71121098880 rs1052898656 N.D. missenseCAsp [D]3227
contig referenceGGlu [E]3227
71121109891 rs981968954 N.D. missenseAGln [Q]2231
contig referenceGArg [R]2231
71121118900 rs927746681 N.D. missenseTVal [V]2234
contig referenceAAsp [D]2234
71121125907 rs34668206 0.000byClusterbyFreq synonymousGThr [T]3236
synonymousGThr [T]3236
synonymousTThr [T]3236
synonymousTThr [T]3236
contig referenceCThr [T]3236
contig referenceCThr [T]3236
71121342950 rs753413601 0.000byFreq synonymousCArg [R]1251
contig referenceAArg [R]1251
71121388996 rs754407926 0.000 missenseAHis [H]2266
contig referenceGArg [R]2266
711214011009 rs778635250 0.000byFreq synonymousCAsp [D]3270
contig referenceTAsp [D]3270
711215641048 rs750832089 0.000byFreq synonymousTTyr [Y]3283
contig referenceCTyr [Y]3283
711215771061 rs35454896 N.D. frame shiftGGly [G]1288
contig reference-Val [V]1288
711215871071 rs754533515 0.000 missenseAGlu [E]2291
contig referenceCAla [A]2291
711215921076 rs764716429 0.000 synonymousTLeu [L]1293
contig referenceCLeu [L]1293
711216061090 rs984165957 N.D. synonymousCLeu [L]3297
contig referenceTLeu [L]3297
711216241108 rs184426039 0.000byClusterWith1000GenomeData0.0003 synonymousAArg [R]3303
contig referenceGArg [R]3303
711216421126 rs957824537 N.D. synonymousALeu [L]3309
contig referenceGLeu [L]3309
711216491133 rs377403264 0.000byClusterbyFreq othermissenseCLeu [L]1312
contig referenceGVal [V]1312
711216501134 rs777541463 0.000 missenseCAla [A]2312
contig referenceTVal [V]2312
711216511135 rs746820232 0.000 synonymousCVal [V]3312
contig referenceGVal [V]3312
711216591143 rs759516228 0.000byClusterbyFreqWith1000GenomeData0.0003 missenseTLeu [L]2315
contig referenceAHis [H]2315
711216601144 rs1020663623 N.D. synonymousTHis [H]3315
contig referenceCHis [H]3315
711216731157 rs781192327 0.000byFreq missenseGVal [V]1320
missenseTLeu [L]1320
contig referenceAIle [I]1320
711216811165 rs370616416 0.000byClusterbyFreq synonymousCAla [A]3322
contig referenceTAla [A]3322
711216961180 rs769757456 0.000 synonymousAThr [T]3327
contig referenceGThr [T]3327
711216971181 rs767398040 0.001With1000GenomeData0.0003 synonymousTLeu [L]1328
contig referenceCLeu [L]1328
711217021186 rs868020528 N.D. synonymousTPro [P]3329
contig referenceCPro [P]3329
711217131197 rs775499343 0.000 missenseTVal [V]2333
contig referenceCAla [A]2333
711217261210 rs749348331 0.000 synonymousCPro [P]3337
contig referenceAPro [P]3337
711217301214 rs768889545 0.000 missenseGGly [G]1339
contig referenceASer [S]1339
711217371221 rs774518546 0.000 missenseTIle [I]2341
contig referenceCThr [T]2341
711217401224 rs762172777 0.000 missenseTLeu [L]2342
contig referenceCPro [P]2342
711217431227 rs764107388 0.000byFreq Uncertain significancemissenseTLeu [L]2343
contig referenceCSer [S]2343
711217461230 rs773615925 0.000byFreq missenseAAsn [N]2344
contig referenceCThr [T]2344
711217481232 rs761157306 0.000byFreq missenseTSer [S]1345
contig referenceCPro [P]1345
711217531237 rs766874065 0.000 synonymousCPhe [F]3346
contig referenceTPhe [F]3346
711217541238 rs752300879 0.000 Uncertain significancemissenseGGly [G]1347
contig referenceASer [S]1347
711217611245 rs757929935 0.000 missenseAGln [Q]2349
contig referenceTLeu [L]2349
711217621246 rs990639258 N.D. synonymousALeu [L]3349
contig referenceGLeu [L]3349
711217811265 rs763867883 0.000byFreq synonymousAArg [R]1356
contig referenceCArg [R]1356
711217821266 rs751188840 0.000 missenseAGln [Q]2356
contig referenceGArg [R]2356
711217831267 rs757086557 0.000byFreq synonymousAArg [R]3356
contig referenceGArg [R]3356
711217911275 rs776803467 0.000byFreq frame shift-Leu [L]2360
contig referenceTPhe [F]2360
711222111312 rs780470012 0.000byClusterbyFreqWith1000GenomeData0.0005 synonymousALeu [L]3371
contig referenceGLeu [L]3371
711222261327 rs750206494 0.000 synonymousTAla [A]3376
contig referenceCAla [A]3376
711222291330 rs755897379 0.000 missenseCPhe [F]3377
contig referenceGLeu [L]3377
711222301331 rs779969587 0.000 missenseAIle [I]1378
contig referenceGVal [V]1378
711222381339 rs753714929 0.000byFreq synonymousTHis [H]3380
contig referenceCHis [H]3380
711222411342 rs754893689 0.000 synonymousTTyr [Y]3381
contig referenceCTyr [Y]3381
711222651366 rs374324656 0.000byClusterbyFreq synonymousALys [K]3389
contig referenceGLys [K]3389
711222671368 rs748224921 0.000 missenseAAsn [N]2390
contig referenceCThr [T]2390
711222681369 rs772236514 0.000byFreq synonymousTThr [T]3390
contig referenceCThr [T]3390
711222951396 rs754944788 N.D. synonymousAIle [I]3399
contig referenceTIle [I]3399
711223011402 rs368546216 0.000byClusterbyFreq synonymousAPro [P]3401
contig referenceGPro [P]3401
711223161417 rs771358421 0.000 missenseAIle [I]3406
contig referenceGMet [M]3406
711223211422 rs777293696 0.000 missenseGGly [G]2408
contig referenceAGlu [E]2408
711223221423 rs760180422 0.000 synonymousAGlu [E]3408
contig referenceGGlu [E]3408
711223321433 rs964324501 N.D. missenseAThr [T]1412
contig referenceGAla [A]1412
711225161456 rs754943978 0.000 synonymousCAla [A]3419
contig referenceAAla [A]3419
711225231463 rs368913305 0.000byClusterbyFreq Uncertain significancemissenseTTrp [W]1422
contig referenceCArg [R]1422
711225241464 rs752746769 0.000 missenseAGln [Q]2422
contig referenceGArg [R]2422
711225281468 rs758467351 0.000 synonymousAGlu [E]3423
contig referenceGGlu [E]3423
711225361476 rs777865279 0.000 missenseGArg [R]2426
contig referenceAGln [Q]2426
711225401480 rs747199355 0.000 synonymousAGln [Q]3427
contig referenceGGln [Q]3427
711225711511 rs771266719 0.000 missenseTCys [C]1438
contig referenceCArg [R]1438
711225721512 rs587778439 N.D. untestedmissenseAHis [H]2438
contig referenceGArg [R]2438
711225821522 rs371928861 0.000byClusterbyFreq synonymousTPhe [F]3441
contig referenceCPhe [F]3441
711225831523 rs5981075 N.D.withHapMapFreq missenseCHis [H]1442
contig referenceGAsp [D]1442
711225911531 rs746205041 0.000byFreq synonymousTCys [C]3444
contig referenceCCys [C]3444
711226031543 rs375202766 0.000byClusterbyFreq synonymousGThr [T]3448
contig referenceTThr [T]3448
711227421552 rs36079314 N.D. frame shiftCHis [H]3452
contig reference-Thr [T]3452
711227531563 rs760696164 0.001With1000GenomeData0.0003 missenseAGln [Q]2455
contig referenceGArg [R]2455
711227591569 rs758423721 0.000 missenseGArg [R]2457
contig referenceTLeu [L]2457
711227661576 rs764293738 0.000 synonymousAThr [T]3459
contig referenceTThr [T]3459
711227751585 rs186153976 0.002byClusterbyFreqWith1000GenomeData0.0037 Benign synonymousTVal [V]3462
contig referenceGVal [V]3462
711227821592 rs863223708 N.D. Uncertain significancemissenseGGly [G]1465
contig referenceASer [S]1465
711227871597 rs757594691 0.000 synonymousCHis [H]3466
contig referenceTHis [H]3466
711228191629 rs75527463 N.D. missenseCPro [P]2477
contig referenceTLeu [L]2477
711228271637 rs369762911 0.000byCluster missenseGVal [V]1480
contig referenceCLeu [L]1480
711230971687 rs759335153 0.000 synonymousAIle [I]3496
contig referenceCIle [I]3496
711231091699 rs765028184 0.000 synonymousCAsp [D]3500
contig referenceTAsp [D]3500
711231131703 rs370204234 0.000byClusterbyFreq missenseTSer [S]1502
contig referenceGAla [A]1502
711231221712 rs763909049 0.000 missenseAThr [T]1505
contig referenceTSer [S]1505
711231281718 rs751739283 0.000 synonymousTLeu [L]1507
contig referenceCLeu [L]1507
711231451735 rs942361290 N.D. synonymousTVal [V]3512
contig referenceCVal [V]3512
711231471737 rs989896519 N.D. missenseCThr [T]2513
contig referenceGSer [S]2513
711231481738 rs757363462 0.000 synonymousTSer [S]3513
contig referenceCSer [S]3513
711231711761 rs875989806 N.D. Uncertain significancemissenseAHis [H]2521
contig referenceGArg [R]2521
711232081798 rs914308415 N.D. synonymousAGln [Q]3533
contig referenceGGln [Q]3533
711232141804 rs767857185 0.000 synonymousAGlu [E]3535
contig referenceGGlu [E]3535
711232231813 rs750614309 0.000 synonymousCAla [A]3538
contig referenceTAla [A]3538
711235951818 rs774363039 0.000byFreq missenseAHis [H]2540
contig referenceGArg [R]2540
711236151838 rs370812643 0.000byClusterbyFreq missenseAThr [T]1547
contig referenceGAla [A]1547
711236351858 rs763388314 0.000byFreq synonymousTIle [I]3553
contig referenceCIle [I]3553
711236361859 rs863223709 N.D. Uncertain significancemissenseAThr [T]1554
contig referenceGAla [A]1554
711236461869 rs750525966 0.000byFreq missenseTPhe [F]2557
contig referenceCSer [S]2557
711236501873 rs775083099 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousGLeu [L]3558
contig referenceTLeu [L]3558
711236581881 rs766485358 0.000byFreq missenseTLeu [L]2561
contig referenceCPro [P]2561
711236591882 rs754247833 0.000 synonymousTPro [P]3561
contig referenceCPro [P]3561
711236601883 rs374138730 0.000byClusterbyFreq missenseGGly [G]1562
contig referenceASer [S]1562
711236711894 rs138984044 0.003byClusterbyFreqWith1000GenomeData0.0032 Uncertain significancesynonymousAIle [I]3565
contig referenceTIle [I]3565
711236781901 rs188593863 0.000byClusterWith1000GenomeData0.0003 missenseTTyr [Y]1568
contig referenceGAsp [D]1568
711237141937 rs576733100 0.000byClusterbyFreq missenseGVal [V]1580
contig referenceAMet [M]1580
711241591944 rs772155788 0.000 missenseTMet [M]2582
contig referenceCThr [T]2582
711241601945 rs773240125 0.000byFreq synonymousAThr [T]3582
contig referenceGThr [T]3582
711241681953 rs747113641 0.000 Uncertain significancemissenseAGln [Q]2585
contig referenceGArg [R]2585
711241961981 rs770861130 0.000 synonymousCPhe [F]3594
contig referenceTPhe [F]3594
711242021987 rs928349192 N.D. synonymousGLeu [L]3596
contig referenceALeu [L]3596
711242081993 rs776762599 0.000byFreq synonymousALeu [L]3598
contig referenceGLeu [L]3598
711242212006 rs797045696 N.D.byCluster Uncertain significancesynonymousTLeu [L]1603
contig referenceCLeu [L]1603
711242352020 rs375897167 0.000byCluster missenseAGlu [E]3607
contig referenceTAsp [D]3607
711242632048 rs765417606 0.000byFreq Likely pathogenicmissenseGAla [A]1617
contig referenceAThr [T]1617
711242682053 rs775882680 0.000 synonymousTLeu [L]3618
contig referenceCLeu [L]3618
711242832068 rs367973899 0.000byCluster synonymousTAsp [D]3623
contig referenceCAsp [D]3623
711242972082 rs764617392 0.000 missenseTVal [V]2628
contig referenceCAla [A]2628
711243052090 rs778208176 0.000byClusterWith1000GenomeData0.0003 missenseGAla [A]1631
contig referenceCPro [P]1631
711243092094 rs199582086 N.D.byCluster missenseAGln [Q]2632
missenseTLeu [L]2632
contig referenceGArg [R]2632
711243162101 rs372068010 0.000byCluster synonymousTPro [P]3634
contig referenceCPro [P]3634
711243222107 rs765871609 0.000 synonymousTPro [P]3636
contig referenceCPro [P]3636
711243312116 rs753356456 0.011byFreq synonymousCAsp [D]3639
contig referenceTAsp [D]3639
711243372122 rs754725206 0.000 synonymousGAla [A]3641
contig referenceCAla [A]3641
711243402125 rs778656381 0.000 synonymousCAsp [D]3642
contig referenceTAsp [D]3642
711243412126 rs747985405 0.000 missenseTTyr [Y]1643
contig referenceGAsp [D]1643
711243432128 rs758195942 0.000 synonymousTAsp [D]3643
contig referenceCAsp [D]3643
711243442129 rs950787066 N.D. missenseGAla [A]1644
contig referenceCPro [P]1644
711243492134 rs376986062 0.000byCluster synonymousAGlu [E]3645
contig referenceGGlu [E]3645
711243522137 rs749990040 0.000byClusterWith1000GenomeData0.0003 missenseGGln [Q]3646
contig referenceCHis [H]3646
711243572142 rs746981338 0.000byFreq missenseCAla [A]2648
contig referenceAGlu [E]2648
711243652150 rs763375719 0.000byFreq GCASer [S]1655
711243662151 rs752904587 0.000byFreq -2655
711243672152 rs929281672 N.D. synonymousAGly [G]3651
contig referenceCGly [G]3651
711243702155 rs199873151 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousTSer [S]3652
contig referenceCSer [S]3652
711243722157 rs866375175 N.D. missenseAAsn [N]2653
contig referenceGSer [S]2653
711243752160 rs776618166 0.000 missenseAAsn [N]2654
contig referenceGSer [S]2654
711243822167 rs201473962 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousALys [K]3656
contig referenceGLys [K]3656
711247712181 rs753307215 0.000byFreq missenseTVal [V]2661
contig referenceGGly [G]2661
711247732183 rs754495912 0.000byFreq missenseTPhe [F]1662
contig referenceCLeu [L]1662
711247752185 rs777329342 N.D. synonymousTLeu [L]3662
contig referenceCLeu [L]3662
711247832193 rs764981858 0.000 missenseGCys [C]2665
contig referenceCSer [S]2665
711247912201 rs752335726 0.000byFreq missenseGVal [V]1668
contig referenceAIle [I]1668
711248012211 rs5937067 N.D.withHapMapFreq missenseAAsn [N]2671
contig referenceGSer [S]2671
711248062216 rs753140335 0.001With1000GenomeData0.0003 missenseGGly [G]1673
contig referenceASer [S]1673
711248202230 rs755299794 N.D. synonymousAGlu [E]3677
contig referenceGGlu [E]3677
711248332243 rs758113987 0.000 missenseAThr [T]1682
contig referenceCPro [P]1682
711249882267 rs878854752 N.D. Uncertain significancemissenseGAla [A]1690
contig referenceAThr [T]1690
711250132292 rs863223710 N.D. Uncertain significancemissenseAAsn [N]2698
contig referenceGSer [S]2698
711250142293 rs749577436 0.000 synonymousCSer [S]3698
contig referenceTSer [S]3698
711250392318 rs768834535 0.000 missenseALys [K]1707
contig referenceGGlu [E]1707
711250482327 rs797045697 N.D. Uncertain significancemissenseAMet [M]1710
contig referenceGVal [V]1710
711250502329 rs774625985 0.000 synonymousAVal [V]3710
contig referenceGVal [V]3710
711250562335 rs377207665 0.000byCluster synonymousTPro [P]3712
contig referenceCPro [P]3712
711250572336 rs772484830 0.000 missenseTSer [S]1713
contig referenceCPro [P]1713
711250632342 rs773699580 0.000 missenseGGlu [E]1715
contig referenceALys [K]1715
711250782357 rs973706634 N.D. missenseCArg [R]1720
contig referenceGGly [G]1720
711250802359 rs759126508 0.000 synonymousAGly [G]3720
contig referenceGGly [G]3720
711250902369 rs764894174 0.000 missenseTPhe [F]1724
contig referenceGVal [V]1724
711250912370 rs752254115 0.000 missenseGGly [G]2724
contig referenceTVal [V]2724
711250922371 rs187478018 0.000byClusterbyFreqWith1000GenomeData0.0005 synonymousCVal [V]3724
contig referenceTVal [V]3724
711250982377 rs763782632 0.000 synonymousTTyr [Y]3726
contig referenceCTyr [Y]3726
711250992378 rs192331892 0.000byClusterbyFreqWith1000GenomeData0.0003 missenseAAsn [N]1727
contig referenceGAsp [D]1727
711251012380 rs780996949 0.000byFreq missenseGGlu [E]3727
contig referenceCAsp [D]3727
711251142393 rs750304793 0.000 missenseAMet [M]1732
contig referenceGVal [V]1732
711251232402 rs756039521 0.000byFreq missenseAThr [T]1735
contig referenceGAla [A]1735
711251402419 rs370195616 0.000byClusterbyFreq Likely benignsynonymousTIle [I]3740
contig referenceCIle [I]3740
711253562431 rs1012702212 N.D. synonymousAGlu [E]3744
contig referenceGGlu [E]3744
711253762451 rs863223700 N.D. Uncertain significancemissenseGSer [S]2751
contig referenceAAsn [N]2751
711253822457 rs761529397 0.000 missenseAGln [Q]2753
contig referenceGArg [R]2753
711253832458 rs61752446 0.012byClusterbyFreqWith1000GenomeData0.0228 Benign synonymousAArg [R]3753
contig referenceGArg [R]3753
711253892464 rs750186446 0.000 synonymousTVal [V]3755
contig referenceCVal [V]3755
711253922467 rs769827044 0.001With1000GenomeData0.0003 synonymousGVal [V]3756
contig referenceAVal [V]3756
711253952470 rs756091104 0.000 synonymousALeu [L]3757
contig referenceGLeu [L]3757
711253982473 rs779918145 0.000 Uncertain significancesynonymousCPhe [F]3758
contig referenceTPhe [F]3758
711254042479 rs753948557 0.000 synonymousAVal [V]3760
contig referenceGVal [V]3760
711254292504 rs755014778 0.000 missenseAAsn [N]1769
contig referenceCHis [H]1769
711254302505 rs779012737 0.000 missenseGArg [R]2769
contig referenceAHis [H]2769
711254322507 rs199860580 0.000byClusterbyFreqWith1000GenomeData0.0003 missenseAThr [T]1770
contig referenceGAla [A]1770
711254352510 rs749158402 0.000byClusterbyFreqWith1000GenomeData0.0003 missenseGVal [V]1771
contig referenceAIle [I]1771
711254362511 rs778325168 0.000 missenseCThr [T]2771
contig referenceTIle [I]2771
711254472522 rs747358083 0.000byFreq missenseGAla [A]1775
contig referenceAThr [T]1775
711254502525 rs1026576147 N.D. missenseGGlu [E]1776
contig referenceALys [K]1776
711254692544 rs771591691 0.000 missenseAGln [Q]2782
contig referenceTLeu [L]2782
711254752550 rs777238737 0.000 missenseAHis [H]2784
contig referenceGArg [R]2784
711254762551 rs748753383 0.000 synonymousTArg [R]3784
contig referenceCArg [R]3784
711254872562 rs950994901 N.D. missenseGGly [G]2788
contig referenceCAla [A]2788
711257002608 rs756908016 N.D. missenseGGlu [E]3803
contig referenceCAsp [D]3803
711257012609 rs974821351 N.D. missenseGVal [V]1804
contig referenceCLeu [L]1804
711257042612 rs747413033 0.000byFreq missenseCPro [P]1805
contig referenceAThr [T]1805
711257072615 rs757629606 0.000 missenseGVal [V]1806
contig referenceTPhe [F]1806
711260422628 rs752847512 0.000byFreq missenseCAla [A]2810
contig referenceAGlu [E]2810
711260572643 rs762905361 0.000 PathogenicmissenseAGln [Q]2815
contig referenceGArg [R]2815
711260622648 rs863223702 N.D. Uncertain significancemissenseTCys [C]1817
contig referenceCArg [R]1817
711260632649 rs749801457 0.000 missenseAHis [H]2817
contig referenceGArg [R]2817
711260682654 rs751774081 0.000 missenseTTrp [W]1819
contig referenceCArg [R]1819
711260782664 rs757541657 0.000 missenseAAsp [D]2822
contig referenceCAla [A]2822
711260842670 rs761085895 0.001With1000GenomeData0.0003 missenseTLeu [L]2824
contig referenceCPro [P]2824
711260972683 rs781733323 0.000byFreq synonymousCAsp [D]3828
contig referenceTAsp [D]3828
711261472733 rs750730080 0.000 missenseTMet [M]2845
contig referenceCThr [T]2845
711261482734 rs915335433 N.D. synonymousCThr [T]3845
contig referenceGThr [T]3845
711263672767 rs746727639 0.000 synonymousTIle [I]3856
contig referenceCIle [I]3856
711263702770 rs368090262 0.000byClusterbyFreq synonymousAThr [T]3857
contig referenceGThr [T]3857
711263732773 rs776541226 0.000byFreq synonymousTSer [S]3858
contig referenceCSer [S]3858
711263882788 rs759205860 0.000 missenseAIle [I]3863
contig referenceGMet [M]3863
711264032803 rs769804888 0.000 synonymousCPro [P]3868
contig referenceTPro [P]3868
711264122812 rs372344160 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousAGln [Q]3871
contig referenceGGln [Q]3871
711264182818 rs763140070 0.000 synonymousTVal [V]3873
contig referenceGVal [V]3873
711264302830 rs751190759 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousTPhe [F]3877
contig referenceCPhe [F]3877
711264482848 rs1046542346 N.D. synonymousGSer [S]3883
contig referenceASer [S]3883
711264792879 rs751687978 0.000 missenseGVal [V]1894
contig referenceAIle [I]1894
711270042920 rs757010467 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousALeu [L]3907
contig referenceGLeu [L]3907
711270102926 rs372816429 0.000byClusterbyFreq synonymousTLeu [L]3909
contig referenceCLeu [L]3909
711270122928 rs763052446 0.000 missenseGArg [R]2910
contig referenceALys [K]2910
711270312947 rs768686458 0.000byFreq synonymousAGly [G]3916
contig referenceCGly [G]3916
711270372953 rs774593737 0.000 synonymousTTyr [Y]3918
contig referenceCTyr [Y]3918
711270422958 rs778697440 0.000byClusterWith1000GenomeData0.0003 missenseTIle [I]2920
contig referenceCThr [T]2920
711270452961 rs767783777 0.000 missenseAAsn [N]2921
contig referenceGSer [S]2921
711270612977 rs375971110 0.000byClusterbyFreq synonymousTIle [I]3926
contig referenceCIle [I]3926
711270622978 rs760933452 0.000 missenseTLeu [L]1927
contig referenceGVal [V]1927
711270762992 rs560621486 N.D. synonymousAArg [R]3931
contig referenceGArg [R]3931
711270943010 rs766716404 0.000 synonymousTLeu [L]3937
contig referenceCLeu [L]3937
711271033019 rs754167644 0.000 synonymousTAsn [N]3940
contig referenceCAsn [N]3940
711271063022 rs917175594 N.D. synonymousAGln [Q]3941
contig referenceGGln [Q]3941
711273453058 rs930308384 N.D. synonymousTGly [G]3953
contig referenceCGly [G]3953
711273483061 rs748251157 0.000 synonymousTVal [V]3954
contig referenceCVal [V]3954
711273493062 rs772101551 0.000 missenseAMet [M]1955
contig referenceGVal [V]1955
711273553068 rs863223703 N.D. PathogenicmissenseTTyr [Y]1957
contig referenceCHis [H]1957
711273593072 rs397515554 N.D.byCluster PathogenicmissenseAGlu [E]2958
contig referenceGGly [G]2958
711273603073 rs773333573 0.000 synonymousAGly [G]3958
contig referenceGGly [G]3958
711273653078 rs760844083 0.000 missenseGSer [S]2960
contig referenceAAsn [N]2960
711273673080 rs80338758 N.D.byCluster PathogenicmissenseTTrp [W]1961
contig referenceCArg [R]1961
711273683081 rs766598254 0.000 missenseAGln [Q]2961
contig referenceGArg [R]2961
711273723085 rs34761462 0.004byClusterbyFreqWith1000GenomeData0.0053 Benign synonymousTSer [S]3962
synonymousTSer [S]3962
contig referenceCSer [S]3962
contig referenceCSer [S]3962
711273853098 rs1009027587 N.D. missenseAThr [T]1967
contig referenceGAla [A]1967
711273903103 rs369276718 0.000byCluster synonymousAGlu [E]3968
contig referenceGGlu [E]3968
711273923105 rs765741173 0.000 missenseAHis [H]2969
contig referenceGArg [R]2969
711274003113 rs1040478252 N.D. missenseGVal [V]1972
contig referenceCLeu [L]1972
711274083121 rs552568236 0.000byClusterbyFreq synonymousCTyr [Y]3974
contig referenceTTyr [Y]3974
711274233136 rs758935114 0.000byFreq synonymousTTyr [Y]3979
contig referenceCTyr [Y]3979
711278933181 rs886039139 N.D. Likely benignsynonymousTSer [S]3994
contig referenceCSer [S]3994
711278943182 rs771092011 0.000 missenseAAsn [N]1995
contig referenceGAsp [D]1995
711278993187 rs776771030 0.000 synonymousCPhe [F]3996
contig referenceTPhe [F]3996
711279003188 rs2503120 N.D.withHapMapFreq missenseCArg [R]1997
contig referenceTCys [C]1997
711279023190 rs751044891 N.D. synonymousTCys [C]3997
contig referenceCCys [C]3997
711279203208 rs375493995 0.000byClusterbyFreq synonymousAThr [T]31003
contig referenceCThr [T]31003
711279233211 rs775829185 0.000byFreq synonymousTIle [I]31004
contig referenceCIle [I]31004
711279263214 rs370685994 0.000byCluster synonymousTTyr [Y]31005
contig referenceCTyr [Y]31005
711279313219 rs80338759 N.D.byCluster PathogenicmissenseGSer [S]21007
contig referenceAAsn [N]21007
711279443232 rs764642821 0.000 synonymousASer [S]31011
contig referenceGSer [S]31011
711279653253 rs749926584 0.000 synonymousCAla [A]31018
contig referenceAAla [A]31018
711279743262 rs797045698 N.D. Uncertain significancemissenseALeu [L]31021
contig referenceCPhe [F]31021
711279783266 rs879255526 N.D. PathogenicmissenseGVal [V]11023
contig referenceAIle [I]11023
711279803268 rs753751305 0.001byClusterWith1000GenomeData0.0003 synonymousTIle [I]31023
contig referenceCIle [I]31023
711280213309 rs377078179 0.000byCluster missenseTMet [M]21037
contig referenceCThr [T]21037
711280223310 rs185658730 0.000byClusterbyFreqWith1000GenomeData0.0005 synonymousAThr [T]31037
contig referenceGThr [T]31037
711280283316 rs1040531574 N.D. synonymousGLeu [L]31039
contig referenceALeu [L]31039
711280293317 rs753602358 0.000byFreq missenseASer [S]11040
contig referenceGGly [G]11040
711280343322 rs900705365 N.D. synonymousALys [K]31041
contig referenceGLys [K]31041
711280493337 rs754673791 0.000 missenseALys [K]31046
contig referenceCAsn [N]31046
711280893377 rs868804661 N.D. missenseTTyr [Y]11060
contig referenceCHis [H]11060
711280963384 rs778887337 0.000 missenseTPhe [F]21062
contig referenceGCys [C]21062
711281023390 rs752512200 0.000 missenseAGlu [E]21064
contig referenceGGly [G]21064
711281033391 rs932149153 N.D. synonymousAGly [G]31064
contig referenceGGly [G]31064
711281123400 rs758288118 0.000byFreq missenseAGlu [E]31067
contig referenceTAsp [D]31067
711281133401 rs777724452 0.000 missenseTSer [S]11068
contig referenceCPro [P]11068
711281153403 rs201807437 0.003byClusterbyFreqWith1000GenomeData0.0003 Likely benignsynonymousTPro [P]31068
contig referenceCPro [P]31068
711281163404 rs770988288 0.000 missenseAAsn [N]11069
contig referenceGAsp [D]11069
711282963409 rs863223704 N.D. Uncertain significancemissenseTSer [S]31070
contig referenceGArg [R]31070
711283083421 rs374156594 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousTIle [I]31074
contig referenceCIle [I]31074
711283093422 rs41303701 N.D. missenseTSer [S]11075
contig referenceGAla [A]11075
711284193532 rs781289776 0.000 synonymousTAsn [N]31111
contig referenceCAsn [N]31111
711286003556 rs773679943 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousTVal [V]31119
contig referenceCVal [V]31119
711286243580 rs369946933 0.000byClusterbyFreq synonymousTSer [S]31127
contig referenceGSer [S]31127
711286423598 rs1042095169 N.D. synonymousTAla [A]31133
contig referenceCAla [A]31133
711286513607 rs756127182 0.000 synonymousTIle [I]31136
contig referenceCIle [I]31136
711286563612 rs869312960 N.D. Uncertain significancemissenseAGln [Q]21138
contig referenceGArg [R]21138
711286693625 rs779981418 0.000byFreq synonymousTLeu [L]31142
contig referenceCLeu [L]31142
711286863642 rs387907360 N.D.byCluster PathogenicmissenseAHis [H]21148
contig referenceGArg [R]21148
711291213682 rs774227521 0.000 synonymousCSer [S]31161
contig referenceTSer [S]31161
711291313692 rs387907361 N.D.byCluster PathogenicmissenseCPro [P]11165
contig referenceTSer [S]11165
711291353696 rs2503121 N.D.withHapMapFreq missenseTVal [V]21166
contig referenceAGlu [E]21166
711291523713 rs761559213 0.000byFreq missenseCPro [P]11172
contig referenceAThr [T]11172
711291573718 rs767449566 0.000 synonymousTCys [C]31173
contig referenceCCys [C]31173
711291613722 rs750415430 0.000 missenseGVal [V]11175
contig referenceAIle [I]11175
711291873748 rs756037504 0.000byFreq synonymousAPro [P]31183
contig referenceGPro [P]31183
711291953756 rs766516518 0.000 missenseGSer [S]21186
contig referenceAAsn [N]21186
711292013762 rs750380399 0.001byClusterWith1000GenomeData0.0003 missenseTPhe [F]21188
contig referenceGCys [C]21188
711292023763 rs755250008 0.000 synonymousTCys [C]31188
contig referenceCCys [C]31188
711292093770 rs778961820 0.000 missenseAAsn [N]11191
contig referenceGAsp [D]11191
711293233784 rs761612336 0.000 synonymousGPro [P]31195
contig referenceTPro [P]31195
711293383799 rs912006355 N.D. synonymousTArg [R]31200
contig referenceCArg [R]31200
711293473808 rs751742488 0.000byClusterbyFreqWith1000GenomeData0.0011 synonymousTCys [C]31203
contig referenceCCys [C]31203
711293683829 rs748892629 N.D. synonymousTAla [A]31210
contig referenceCAla [A]31210
711293713832 rs755212046 0.000byClusterWith1000GenomeData0.0003 synonymousASer [S]31211
contig referenceCSer [S]31211
711293833844 rs760651439 0.000 synonymousTIle [I]31215
contig referenceCIle [I]31215
711296813892 rs965896553 N.D. synonymousTGly [G]31231
contig referenceGGly [G]31231
711296873898 rs184162709 0.002byClusterbyFreqWith1000GenomeData0.0024 synonymousAAla [A]31233
contig referenceGAla [A]31233
711297093920 rs1028631372 N.D. missenseGAla [A]11241
contig referenceAThr [T]11241
711297243935 rs770904571 0.000byFreq missenseGAla [A]11246
contig referenceAThr [T]11246
711297573968 rs776373565 0.000 missenseASer [S]11257
contig referenceGGly [G]11257
711297733984 rs202120461 0.000byClusterbyFreq Uncertain significancemissenseALys [K]21262
contig referenceGArg [R]21262
711297773988 rs765481362 0.000 missenseCHis [H]31263
contig referenceGGln [Q]31263
711297803991 rs752795407 0.000byFreq synonymousGGly [G]31264
contig referenceTGly [G]31264
711297833994 rs763317363 0.000 synonymousTGly [G]31265
contig referenceCGly [G]31265
711297853996 rs587780391 0.000byClusterbyFreqWith1000GenomeData0.0003 Uncertain significancemissenseAHis [H]21266
contig referenceGArg [R]21266
711297883999 rs752008407 0.000 missenseGSer [S]21267
contig referenceAAsn [N]21267
711297964007 rs757500838 0.000 missenseCLeu [L]11270
contig referenceGVal [V]11270
711297974008 rs781730846 0.000 missenseCAla [A]21270
contig referenceTVal [V]21270
711298044015 rs750953189 0.000 synonymousCThr [T]31272
contig referenceAThr [T]31272
711298314042 rs369268877 0.000byClusterbyFreqWith1000GenomeData0.0005 synonymousTTyr [Y]31281
contig referenceCTyr [Y]31281
711298324043 rs398124197 N.D. Uncertain significancemissenseAMet [M]11282
contig referenceGVal [V]11282
711298374048 rs377409217 0.000byClusterbyFreq synonymousTLeu [L]31283
contig referenceGLeu [L]31283
711298394050 rs979229015 N.D. missenseAHis [H]21284
contig referenceGArg [R]21284
711298494060 rs747604195 0.000 synonymousTCys [C]31287
contig referenceCCys [C]31287
711298524063 rs370431544 0.000byCluster synonymousGGln [Q]31288
contig referenceAGln [Q]31288
711300434075 rs368144948 0.000byCluster synonymousTVal [V]31292
contig referenceAVal [V]31292
711300504082 rs863223706 N.D. Uncertain significancemissenseTCys [C]11295
contig referenceCArg [R]11295
711300674099 rs763090662 0.000 synonymousALeu [L]31300
contig referenceGLeu [L]31300
711300794111 rs762887632 0.000byClusterWith1000GenomeData0.0003 synonymousTSer [S]31304
contig referenceCSer [S]31304
711300854117 rs372389957 0.000byClusterbyFreq synonymousTAsp [D]31306
contig referenceCAsp [D]31306
711300954127 rs863223712 N.D. Uncertain significanceTCCSer [S]11310
contig referenceCCAPro [P]11310
711300974129 rs5030619 0.371byClusterbyFreqwithHapMapFreqWith1000GenomeData0.1110 othersynonymousCPro [P]31310
synonymousCPro [P]31310
contig referenceAPro [P]31310
contig referenceAPro [P]31310
711301094141 rs3810670 0.000byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0011 synonymousCSer [S]31314
contig referenceTSer [S]31314
711301174149 rs940532752 N.D. missenseTVal [V]21317
contig referenceCAla [A]21317
711301184150 rs755194632 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousAAla [A]31317
contig referenceGAla [A]31317
711301224154 rs901783069 N.D. missenseTCys [C]11319
contig referenceCArg [R]11319
711301244156 rs368549870 0.000byCluster synonymousAArg [R]31319
contig referenceCArg [R]31319
711301524184 rs766827969 0.000 missenseGGly [G]11329
contig referenceCArg [R]11329
711301564188 rs797045699 N.D. Uncertain significancemissenseGArg [R]21330
contig referenceTLeu [L]21330
711301664198 rs752208223 0.000 synonymousCAsn [N]31333
contig referenceTAsn [N]31333
711301684200 rs372238830 0.000 missenseGGly [G]21334
contig referenceAGlu [E]21334
711301814213 rs775331048 N.D. missenseALys [K]31338
contig referenceCAsn [N]31338
711301834215 rs757845624 0.000 missenseTLeu [L]21339
contig referenceCPro [P]21339
711301854217 rs867191624 N.D. missenseALys [K]11340
contig referenceCGln [Q]11340
711301884220 rs777250096 0.000byFreq Uncertain significancemissenseTTrp [W]11341
contig referenceCArg [R]11341
711301894221 rs746705248 0.000 missenseAGln [Q]21341
contig referenceGArg [R]21341
711301944226 rs762692180 N.D. missenseTCys [C]11343
contig referenceCArg [R]11343
711301954227 rs201044355 0.000byClusterbyFreq Uncertain significancemissenseAHis [H]21343
contig referenceGArg [R]21343
711301984230 rs780900807 0.000byFreq missenseCThr [T]21344
contig referenceTIle [I]21344
711302034235 rs745627308 0.000 missenseTCys [C]11346
contig referenceCArg [R]11346
711302044236 rs966195679 N.D. missenseTLeu [L]21346
contig referenceGArg [R]21346
711302084240 rs769884032 0.000 synonymousCIle [I]31347
contig referenceTIle [I]31347
711302114243 rs367674919 0.000byCluster synonymousTLeu [L]31348
contig referenceCLeu [L]31348
711315794276 rs902073429 N.D. synonymousGSer [S]31359
contig referenceTSer [S]31359
711315944291 rs756882570 0.000 synonymousAGln [Q]31364
contig referenceGGln [Q]31364
711316134310 rs587778437 0.000byClusterbyFreqWith1000GenomeData0.0003 untestedmissenseTSer [S]11371
contig referenceCPro [P]11371
711316174314 rs202009066 0.000byClusterbyFreq Uncertain significancemissenseGSer [S]21372
contig referenceAAsn [N]21372
711316194316 rs755920101 0.000 missenseGAsp [D]11373
contig referenceAAsn [N]11373
711320994345 rs923552252 N.D. synonymousTIle [I]31382
contig referenceCIle [I]31382
711321004346 rs863223696 N.D. PathogenicmissenseAThr [T]11383
contig referenceGAla [A]11383
711321074353 rs771349148 0.000 missenseTVal [V]21385
contig referenceCAla [A]21385
711321144360 rs776947543 0.000byFreq synonymousTIle [I]31387
contig referenceCIle [I]31387
711321274373 rs868390930 N.D. missenseALys [K]11392
contig referenceCGln [Q]11392
711321284374 rs1139013 N.D.withHapMapFreq missenseGArg [R]21392
contig referenceAGln [Q]21392
711321324378 rs376058351 0.000byClusterbyFreq othersynonymousCSer [S]31393
contig referenceASer [S]31393
711321444390 rs765727984 0.000 synonymousTGly [G]31397
contig referenceGGly [G]31397
711321554401 rs774091279 0.001With1000GenomeData0.0003 missenseCAla [A]21401
contig referenceGGly [G]21401
711321644410 rs863223697 N.D. Likely pathogenicmissenseTVal [V]21404
contig referenceCAla [A]21404
711321714417 rs751061930 0.000 synonymousTAsn [N]31406
contig referenceCAsn [N]31406
711321754421 rs867023185 N.D. missenseTSer [S]11408
contig referenceCPro [P]11408
711321844430 rs961569982 N.D. missenseGGly [G]11411
contig referenceASer [S]11411
711321854431 rs761320689 0.000 missenseAAsn [N]21411
contig referenceGSer [S]21411
711321914437 rs759532414 0.000byClusterbyFreqWith1000GenomeData0.0005 missenseAAsn [N]21413
contig referenceCThr [T]21413
711323834459 rs34299769 0.027 synonymousGLeu [L]31420
contig referenceALeu [L]31420
711323874463 rs776011599 0.000 missenseTCys [C]11422
contig referenceCArg [R]11422
711324024478 rs927646203 N.D. synonymousTLeu [L]11427
contig referenceCLeu [L]11427
711324034479 rs867415272 N.D. missenseCPro [P]21427
contig referenceTLeu [L]21427
711324164492 rs960653982 N.D. synonymousTLeu [L]31431
contig referenceCLeu [L]31431
711324224498 rs763359998 0.000byFreq synonymousCAla [A]31433
contig referenceTAla [A]31433
711324494525 rs767123637 0.000 synonymousCHis [H]31442
contig referenceTHis [H]31442
711324684544 rs749925159 0.000 missenseCGln [Q]11449
contig referenceGGlu [E]11449
711324764552 rs760423553 0.000byFreq synonymousALeu [L]31451
contig referenceGLeu [L]31451
711324824558 rs766087487 0.000byFreq synonymousALys [K]31453
contig referenceGLys [K]31453
711324864562 rs761728689 N.D. missenseGGlu [E]11455
contig referenceCGln [Q]11455
711324954571 rs863223698 N.D. Uncertain significancemissenseCArg [R]11458
contig referenceGGly [G]11458
711325034579 rs377119772 0.000byCluster synonymousCSer [S]31460
contig referenceTSer [S]31460
711328454615 rs867232410 N.D. missenseAArg [R]31472
contig referenceCSer [S]31472
711328544624 rs370211858 0.001byClusterbyFreqWith1000GenomeData0.0003 synonymousGLeu [L]31475
contig referenceALeu [L]31475
711328574627 rs982066662 N.D. synonymousALeu [L]31476
contig referenceGLeu [L]31476
711328784648 rs769025272 0.000 synonymousASer [S]31483
contig referenceGSer [S]31483
711328794649 rs867314768 N.D. missenseAMet [M]11484
contig referenceCLeu [L]11484
711328904660 rs772877700 0.000byFreq synonymousGThr [T]31487
contig referenceAThr [T]31487
711328934663 rs760194613 0.000 synonymousCCys [C]31488
contig referenceTCys [C]31488
711328994669 rs766138859 0.000 synonymousGLys [K]31490
contig referenceALys [K]31490
711329024672 rs776476529 0.000 synonymousAGly [G]31491
contig referenceGGly [G]31491
711329154685 rs759105512 0.000 missenseTCys [C]11496
contig referenceCArg [R]11496
711329164686 rs866231134 N.D. missenseTLeu [L]21496
contig referenceGArg [R]21496
711329174687 rs531754497 0.001byClusterbyFreqWith1000GenomeData0.0003 Uncertain significancesynonymousTArg [R]31496
contig referenceCArg [R]31496
711329184688 rs868164882 N.D. missenseALys [K]11497
contig referenceGGlu [E]11497
711329354705 rs754662384 N.D. synonymousTSer [S]31502
contig referenceCSer [S]31502
711331304734 rs753169363 N.D. missenseGSer [S]21512
contig referenceAAsn [N]21512
711331724776 rs774937112 0.000byFreq missenseGArg [R]21526
contig referenceALys [K]21526
711331794783 rs768035778 0.000 frame shiftATGCAla [A]31531
contig reference-Glu [E]31531
711343594819 rs756385578 0.000 Uncertain significancesynonymousAVal [V]31540
contig referenceGVal [V]31540
711343654825 rs968752820 N.D. synonymousTGly [G]31542
contig referenceCGly [G]31542
711343744834 rs151316557 0.001byClusterWith1000GenomeData0.0003 missenseGGlu [E]31545
contig referenceCAsp [D]31545
711343774837 rs980389482 N.D. synonymousAThr [T]31546
contig referenceGThr [T]31546
711343894849 rs886039075 N.D. Likely benignsynonymousTSer [S]31550
contig referenceCSer [S]31550
711344044864 rs375001801 0.000byClusterbyFreq synonymousAThr [T]31555
contig referenceGThr [T]31555
711344084868 rs794727576 N.D. Uncertain significancemissenseCArg [R]11557
contig referenceTTrp [W]11557
711344164876 rs755449496 0.000byFreq missenseTIle [I]31559
contig referenceGMet [M]31559
711344194879 rs779412664 0.000 synonymousTLeu [L]31560
contig referenceCLeu [L]31560
711344504910 rs962560401 N.D. missenseAAsn [N]11571
contig referenceGAsp [D]11571
711347434957 rs990280954 N.D. synonymousTLeu [L]31586
contig referenceGLeu [L]31586
711347464960 rs369563649 0.000byCluster synonymousTSer [S]31587
contig referenceCSer [S]31587
711347474961 rs767396596 0.000 missenseAMet [M]11588
contig referenceGVal [V]11588
711347494963 rs750517588 0.000byFreq synonymousAVal [V]31588
synonymousTVal [V]31588
contig referenceGVal [V]31588
711347624976 rs766467215 0.000 missenseGAla [A]11593
contig referenceAThr [T]11593
711347704984 rs754072422 0.000 synonymousCAla [A]31595
contig referenceTAla [A]31595
711347915005 rs755218771 0.000 synonymousTSer [S]31602
contig referenceGSer [S]31602
711348125026 rs779466860 0.000byFreq synonymousTAsn [N]31609
contig referenceCAsn [N]31609
711348165030 rs727503868 N.D. Uncertain significancemissenseGGly [G]11611
contig referenceCArg [R]11611
711348255039 rs374216233 0.000 missenseGVal [V]11614
contig referenceAMet [M]11614
711348355049 rs753061449 0.000byFreq missenseTVal [V]21617
contig referenceCAla [A]21617
711348365050 rs377210068 0.000byClusterbyFreq synonymousAAla [A]31617
contig referenceGAla [A]31617
711350985069 rs766406937 0.000 synonymousCLeu [L]11624
contig referenceTLeu [L]11624
711351075078 rs776748297 0.000 missenseTCys [C]11627
contig referenceCArg [R]11627
711351085079 rs759857680 0.000 missenseAHis [H]21627
contig referenceGArg [R]21627
711351355106 rs968428355 N.D. missenseAHis [H]21636
contig referenceGArg [R]21636
711351485119 rs765515717 0.000 synonymousTPro [P]31640
contig referenceAPro [P]31640
711351575128 rs964113005 N.D. synonymousALys [K]31643
contig referenceGLys [K]31643
711351695140 rs753148075 0.000byClusterWith1000GenomeData0.0003 synonymousCAsp [D]31647
contig referenceTAsp [D]31647
711351785149 rs756839501 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousAThr [T]31650
contig referenceGThr [T]31650
711351995170 rs398124198 N.D.byCluster Uncertain significancesynonymousCLeu [L]31657
contig referenceTLeu [L]31657
711352025173 rs376179450 0.000byClusterbyFreq synonymousTIle [I]31658
contig referenceCIle [I]31658
711352175188 rs752074440 0.000 missenseGLys [K]31663
contig referenceCAsn [N]31663
711352325203 rs370610104 0.000byCluster synonymousTPhe [F]31668
contig referenceCPhe [F]31668
711352335204 rs779481901 0.000 missenseAAsn [N]11669
contig referenceGAsp [D]11669
711362955239 rs867237104 N.D. synonymousTSer [S]31680
contig referenceCSer [S]31680
711363435287 rs202167558 0.001byClusterWith1000GenomeData0.0003 synonymousAPro [P]31696
contig referenceGPro [P]31696
711363545298 rs868799353 N.D. missenseCPro [P]21700
contig referenceTLeu [L]21700
711363585302 rs762801267 0.000byClusterbyFreq synonymousCSer [S]31701
contig referenceTSer [S]31701
711363645308 rs781134410 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousTGly [G]31703
contig referenceCGly [G]31703
711363795323 rs775912778 0.000byFreq synonymousAVal [V]31708
contig referenceCVal [V]31708
711363805324 rs886041581 N.D. PathogenicnonsenseT11709
contig referenceCArg [R]11709
711363895333 rs763233945 0.000 missenseTTrp [W]11712
contig referenceCArg [R]11712
711363935337 rs374390933 0.000byCluster missenseAGln [Q]21713
contig referenceGArg [R]21713
711363945338 rs751934349 0.000 synonymousCArg [R]31713
contig referenceAArg [R]31713
711364075351 rs866487427 N.D. missenseALys [K]11718
contig referenceGGlu [E]11718
711364125356 rs757730166 0.000 synonymousAGlu [E]31719
contig referenceGGlu [E]31719
711364215365 rs768033414 0.000 synonymousAArg [R]31722
contig referenceGArg [R]31722
711364405384 rs387907362 N.D.byCluster PathogenicmissenseAAsn [N]11729
contig referenceCHis [H]11729
711364455389 rs753355369 0.000 synonymousCLeu [L]31730
contig referenceGLeu [L]31730
711364535397 rs754537871 0.000 missenseAGln [Q]21733
contig referenceGArg [R]21733
711364585402 rs778386823 0.000 missenseTCys [C]11735
contig referenceCArg [R]11735
711364605404 rs747836622 0.000 synonymousTArg [R]31735
contig referenceCArg [R]31735
711364615405 rs1042718707 N.D. missenseAThr [T]1