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dbSNP

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SNP linked to Gene (geneID:8778) Via Contig Annotation

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

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017027419.1minus strandXP_016882908.1reverseNT_011109.17GRCh38.p7<- currently shown
XM_011527438.2minus strandXP_011525740.1reverseNT_011109.17GRCh38.p7View snp on GeneModel
NM_003830.3minus strandNP_003821.1reverseNT_011109.17GRCh38.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_011109.17XM_017027419.1XP_016882908.1reverseminus strand612, 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
516121391873 rs1332836610 N.D. -
516122311795 rs754333092 0.000byFreq GTrp [W]3552
contig referenceA3552
516122321794 rs1334082854 N.D. synonymousA2552
contig referenceG2552
516122351791 rs757813029 0.000 missenseGArg [R]2551
contig referenceALys [K]2551
516122381788 rs779425259 0.000 missenseCThr [T]2550
contig referenceGSer [S]2550
516122411785 rs181816648 0.000byClusterWith1000GenomeData0.0002 missenseTIle [I]2549
contig referenceCThr [T]2549
516122421784 rs758699253 0.000 missenseTSer [S]1549
contig referenceAThr [T]1549
516122441782 rs367759987 0.000byCluster missenseGArg [R]2548
contig referenceALys [K]2548
516122471779 rs200100855 0.001byClusterbyFreq missenseCThr [T]2547
contig referenceTIle [I]2547
516122481778 rs1328694632 N.D. missenseGVal [V]1547
contig referenceAIle [I]1547
516122491777 rs1345105525 N.D. synonymousAGlu [E]3546
contig referenceGGlu [E]3546
516122521774 rs768767181 0.000byFreq synonymousASer [S]3545
contig referenceGSer [S]3545
516122531773 rs1276346326 N.D. missenseTLeu [L]2545
contig referenceCSer [S]2545
516122551771 rs773958447 0.000 synonymousTTyr [Y]3544
contig referenceCTyr [Y]3544
516122561770 rs748069327 0.000 missenseTPhe [F]2544
contig referenceATyr [Y]2544
516122581768 rs769816301 0.000 synonymousAGlu [E]3543
contig referenceGGlu [E]3543
516122621764 rs762752679 0.000byFreq missenseALys [K]2542
missenseTMet [M]2542
contig referenceCThr [T]2542
516122631763 rs1191269080 N.D. missenseGAla [A]1542
contig referenceAThr [T]1542
516122671759 rs551417438 0.000byFreqWith1000GenomeData0.0002 missenseAArg [R]3540
contig referenceCSer [S]3540
516122691757 rs571992822 0.000byCluster missenseGGly [G]1540
contig referenceASer [S]1540
516122761750 rs145143031 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAGlu [E]3537
contig referenceGGlu [E]3537
516122781748 rs1374108184 N.D. missenseCGln [Q]1537
contig referenceGGlu [E]1537
516122791747 rs752159541 0.000 missenseCHis [H]3536
contig referenceGGln [Q]3536
516122831743 rs755640293 0.000 missenseGGly [G]2535
contig referenceAAsp [D]2535
516122841742 rs1034318942 N.D. missenseAAsn [N]1535
contig referenceGAsp [D]1535
516122841742 rs1321909898 N.D. frame shift-Thr [T]1535
contig referenceGAsp [D]1535
516122901736 rs1360265618 N.D. missenseTSer [S]1533
contig referenceCPro [P]1533
516122941732 rs1380236906 N.D. synonymousAArg [R]3531
contig referenceGArg [R]3531
516122971729 rs765671576 0.000 synonymousASer [S]3530
contig referenceGSer [S]3530
516122981728 rs202156967 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTLeu [L]2530
contig referenceCSer [S]2530
516123031723 rs866268989 N.D. missenseAIle [I]3528
contig referenceGMet [M]3528
516123041722 rs758784649 0.000 missenseCThr [T]2528
contig referenceTMet [M]2528
516123051721 rs1041742628 N.D. missenseGVal [V]1528
contig referenceAMet [M]1528
516123081718 rs1231801287 N.D. missenseCGln [Q]1527
contig referenceGGlu [E]1527
516123191707 rs1333374407 N.D. missenseCPro [P]2523
contig referenceTLeu [L]2523
516123201706 rs1273035421 N.D. missenseTPhe [F]1523
contig referenceCLeu [L]1523
516123241702 rs1355700282 N.D. synonymousTAla [A]3521
contig referenceCAla [A]3521
516123251701 rs144846346 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]2521
contig referenceCAla [A]2521
516123281698 rs747230475 0.000 missenseTPhe [F]2520
contig referenceATyr [Y]2520
516123301696 rs755193696 0.000 synonymousCHis [H]3519
contig referenceTHis [H]3519
516123311695 rs1238587814 N.D. missenseGArg [R]2519
contig referenceAHis [H]2519
516123321694 rs867946387 N.D.byCluster missenseAAsn [N]1519
missenseTTyr [Y]1519
contig referenceCHis [H]1519
516123361690 rs781599333 0.000byFreq synonymousAGlu [E]3517
contig referenceGGlu [E]3517
516123371689 rs1452261069 N.D. missenseTVal [V]2517
contig referenceAGlu [E]2517
516123391687 rs997998201 N.D. missenseCAsn [N]3516
contig referenceGLys [K]3516
516123441682 rs200884858 0.000byClusterbyFreq nonsenseT1515
contig referenceCGln [Q]1515
516123461680 rs775264277 N.D. missenseTVal [V]2514
contig referenceAGlu [E]2514
516123471679 rs770008591 0.000 missenseALys [K]1514
contig referenceGGlu [E]1514
516123511675 rs147945480 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousALeu [L]3512
contig referenceGLeu [L]3512
516123591667 rs749256144 0.000 missenseTSer [S]1510
contig referenceCPro [P]1510
516123611665 rs1380135361 N.D. missenseTVal [V]2509
contig referenceCAla [A]2509
516123651661 rs770750882 0.000 missenseTTyr [Y]1508
contig referenceGAsp [D]1508
516123661660 rs774066777 0.000 synonymousTGly [G]3507
contig referenceGGly [G]3507
516123691657 rs1390951140 N.D. synonymousCPro [P]3506
contig referenceTPro [P]3506
516123701656 rs759197588 0.000 missenseTLeu [L]2506
contig referenceCPro [P]2506
516123711655 rs1323363673 N.D. missenseTSer [S]1506
contig referenceCPro [P]1506
516123721654 rs767105975 0.000 synonymousAPro [P]3505
contig referenceTPro [P]3505
516123751651 rs1312997456 N.D. synonymousASer [S]3504
contig referenceTSer [S]3504
516123791647 rs1240873092 N.D. missenseTVal [V]2503
contig referenceCAla [A]2503
516123811645 rs929412325 N.D. synonymousGGln [Q]3502
contig referenceAGln [Q]3502
516123891637 rs759409207 0.000byFreq missenseAArg [R]1500
contig referenceGGly [G]1500
516123901636 rs141897891 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousTPro [P]3499
contig referenceCPro [P]3499
516123921634 rs3829655 0.493byClusterbyFreqwithHapMapFreqWith1000GenomeData0.4353 missenseAThr [T]1499
missenseGAla [A]1499
missenseTSer [S]1499
contig referenceCPro [P]1499
516123921627 rs765054099 0.000 frame shift-Arg [R]3497
contig reference(8bp)Asp [D]3497
516123931633 rs61736483 0.032byClusterbyFreqWith1000GenomeData0.0124 synonymousTSer [S]3498
contig referenceCSer [S]3498
516123961630 rs751832718 0.000 missenseGGlu [E]3497
contig referenceCAsp [D]3497
516123971629 rs755393130 0.000 missenseGGly [G]2497
contig referenceAAsp [D]2497
516124021624 rs1459133693 N.D. nonsenseA3495
contig referenceGTrp [W]3495
516124031623 rs199499788 0.000byClusterbyFreqWith1000GenomeData0.0002 nonsenseA2495
contig referenceGTrp [W]2495
516124111615 rs752973173 0.000 synonymousALys [K]3492
contig referenceGLys [K]3492
516124141612 rs771812603 0.000byClusterbyFreq frame shift-Arg [R]3492
contig referenceGLys [K]3492
516124171609 rs1467206510 N.D. synonymousTSer [S]3490
contig referenceCSer [S]3490
516124181608 rs1167282617 N.D. missenseTPhe [F]2490
contig referenceCSer [S]2490
516124191606 rs758603036 0.000 frame shift-Gln [Q]3490
contig referenceTTSer [S]3490
516124211605 rs756262563 0.000 missenseAAsp [D]2489
contig referenceGGly [G]2489
516260321603 rs527535281 N.D.byCluster synonymousASer [S]3488
contig referenceGSer [S]3488
516260331602 rs746633265 0.000 missenseTLeu [L]2488
contig referenceCSer [S]2488
516260361599 rs768255375 0.000byFreq missenseTIle [I]2487
contig referenceCThr [T]2487
516260371598 rs139056611 0.004byClusterbyFreqWith1000GenomeData0.0068 missenseCPro [P]1487
contig referenceAThr [T]1487
516260381597 rs368962435 0.000byCluster synonymousTIle [I]3486
contig referenceCIle [I]3486
516260421593 rs769351924 0.000 missenseGSer [S]2485
missenseTIle [I]2485
contig referenceCThr [T]2485
516260431592 rs774717835 0.000 missenseGAla [A]1485
contig referenceAThr [T]1485
516260481587 rs150210009 0.000byClusterbyFreq missenseGArg [R]2483
contig referenceTMet [M]2483
516260521583 rs746780999 N.D. missenseCLeu [L]1482
contig referenceAIle [I]1482
516260601575 rs1485554667 N.D. missenseCAla [A]2479
contig referenceAGlu [E]2479
516260641571 rs1209131798 N.D. missenseAAsn [N]1478
contig referenceGAsp [D]1478
516260671568 rs776039619 0.000 missenseAAsn [N]1477
contig referenceGAsp [D]1477
516260731562 rs76711639 0.001byClusterbyFreqWith1000GenomeData0.0032 missenseCGln [Q]1475
contig referenceALys [K]1475
516260751560 rs764161336 0.000 missenseTVal [V]2474
contig referenceAGlu [E]2474
516260791556 rs1003989431 N.D. missenseTSer [S]1473
contig referenceCPro [P]1473
516260861549 rs1416856482 N.D. synonymousCAla [A]3470
contig referenceTAla [A]3470
516260881547 rs754092511 0.000 missenseTSer [S]1470
contig referenceGAla [A]1470
516260981537 rs1176707564 N.D. missenseTSer [S]3466
synonymousAArg [R]3466
contig referenceGArg [R]3466
516261021533 rs757275164 0.000byFreq missenseAHis [H]2465
missenseTLeu [L]2465
contig referenceGArg [R]2465
516261031532 rs765412177 0.000byFreq missenseTCys [C]1465
contig referenceCArg [R]1465
516261051530 rs559167909 0.000byFreqWith1000GenomeData0.0006 missenseGGly [G]2464
contig referenceCAla [A]2464
516261061529 rs866521402 N.D.byCluster missenseTSer [S]1464
contig referenceGAla [A]1464
516271491521 rs754724794 0.000byFreq missenseCThr [T]2461
contig referenceTIle [I]2461
516271531517 rs1223536131 N.D. synonymousCLeu [L]1460
contig referenceTLeu [L]1460
516271551513 rs1281727497 N.D. -3459
516271551515 rs1323192877 N.D. missenseATyr [Y]2459
contig referenceTPhe [F]2459
516271581512 rs1221802064 N.D. missenseATyr [Y]2458
contig referenceTPhe [F]2458
516271641506 rs1251904810 N.D. missenseCPro [P]2456
contig referenceTLeu [L]2456
516271661504 rs781099888 0.000 synonymousTCys [C]3455
contig referenceCCys [C]3455
516271681499 rs1180443634 N.D. frame shift-Ala [A]1454
contig referenceCTGTLeu [L]1454
516271731497 rs747737197 0.000 missenseCSer [S]2453
missenseTPhe [F]2453
contig referenceGCys [C]2453
516271741496 rs755835003 0.000 missenseCArg [R]1453
contig referenceTCys [C]1453
516271791491 rs777324127 0.000 missenseATyr [Y]2451
contig referenceGCys [C]2451
516271841486 rs372200299 N.D. synonymousALeu [L]3449
contig referenceGLeu [L]3449
516271851485 rs201987666 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2449
contig referenceTLeu [L]2449
516271871483 rs145464067 0.000byClusterbyFreqWith1000GenomeData0.0012 synonymousTAla [A]3448
contig referenceCAla [A]3448
516271901480 rs367576404 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTIle [I]3447
contig referenceGMet [M]3447
516271951475 rs1393911901 N.D. missenseAIle [I]1446
contig referenceGVal [V]1446
516272001470 rs894879461 N.D. missenseTVal [V]2444
contig referenceCAla [A]2444
516272011469 rs138119952 0.000byClusterbyFreq missenseAThr [T]1444
contig referenceGAla [A]1444
516272031467 rs1333986987 N.D. missenseAAsp [D]2443
contig referenceGGly [G]2443
516272041466 rs1401571744 N.D. missenseASer [S]1443
contig referenceGGly [G]1443
516272061464 rs142710973 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAAsp [D]2442
contig referenceGGly [G]2442
516272071463 rs1442086686 N.D. missenseASer [S]1442
contig referenceGGly [G]1442
516272111459 rs760128805 N.D. synonymousTAla [A]3440
contig referenceCAla [A]3440
516272151455 rs777092271 0.000 missenseTVal [V]2439
contig referenceCAla [A]2439
516272181452 rs145933843 0.000byClusterbyFreq missenseTLeu [L]2438
contig referenceCPro [P]2438
516272231447 rs1027739350 N.D. synonymousTVal [V]3436
contig referenceGVal [V]3436
516272271443 rs770007074 0.000byFreq missenseAGlu [E]2435
missenseCAla [A]2435
contig referenceGGly [G]2435
516272321438 rs571255842 0.001byFreqWith1000GenomeData0.0008 synonymousAGly [G]3433
contig referenceGGly [G]3433
516272331437 rs1332034083 N.D. missenseAGlu [E]2433
contig referenceGGly [G]2433
516272341436 rs17852719 0.000 missenseAArg [R]1433
contig referenceGGly [G]1433
516272351435 rs17740650 0.276byClusterbyFreqWith1000GenomeData0.2448 synonymousTLeu [L]3432
contig referenceCLeu [L]3432
516272361434 rs1276644436 N.D. missenseCPro [P]2432
contig referenceTLeu [L]2432
516272411429 rs1228507057 N.D. synonymousASer [S]3430
contig referenceGSer [S]3430
516272421428 rs192335508 0.000byClusterbyFreqWith1000GenomeData0.0002 nonsenseA2430
missenseGTrp [W]2430
missenseTLeu [L]2430
contig referenceCSer [S]2430
516272441426 rs1379405430 N.D. synonymousGArg [R]3429
contig referenceAArg [R]3429
516272451425 rs1302684365 N.D. missenseCThr [T]2429
contig referenceGArg [R]2429
516272461424 rs767189409 0.000 missenseGGly [G]1429
contig referenceAArg [R]1429
516274621421 rs759569922 0.000byFreq missenseAArg [R]1428
contig referenceGGly [G]1428
516274661417 rs1427817422 N.D. synonymousALeu [L]3426
contig referenceGLeu [L]3426
516274681415 rs1303972036 N.D. synonymousTLeu [L]1426
contig referenceCLeu [L]1426
516274711412 rs368434474 0.000byCluster missenseAMet [M]1425
contig referenceCLeu [L]1425
516274831400 rs372583092 N.D. missenseASer [S]1421
contig referenceGGly [G]1421
516274841399 rs141159931 0.000byClusterbyFreq missenseAArg [R]3420
synonymousTSer [S]3420
contig referenceCSer [S]3420
516274851398 rs752593521 0.000 missenseAAsn [N]2420
contig referenceGSer [S]2420
516274871396 rs887921217 N.D. missenseCHis [H]3419
synonymousAGln [Q]3419
contig referenceGGln [Q]3419
516274881395 rs1401536900 N.D. missenseGArg [R]2419
contig referenceAGln [Q]2419
516274891394 rs1389630770 N.D. nonsenseT1419
contig referenceCGln [Q]1419
516274911392 rs760511099 0.000 missenseTPhe [F]2418
contig referenceCSer [S]2418
516274921391 rs1159661632 N.D. missenseAThr [T]1418
contig referenceTSer [S]1418
516274991384 rs1325362105 N.D. missenseGMet [M]3415
contig referenceCIle [I]3415
516275011382 rs1224530189 N.D. missenseGVal [V]1415
contig referenceAIle [I]1415
516275041379 rs764035619 0.000 missenseGAsp [D]1414
contig referenceAAsn [N]1414
516275061376 rs1421763835 N.D. frame shiftCSer [S]1413
contig reference-Trp [W]1413
516275071376 rs1298516056 N.D. missenseCArg [R]1413
contig referenceTTrp [W]1413
516275141369 rs752494690 N.D. synonymousTCys [C]3410
contig referenceCCys [C]3410
516275151367 rs1345690631 N.D. frame shiftAGCT1410
contig reference-Cys [C]1410
516275161367 rs1362006557 N.D. missenseCArg [R]1410
contig referenceTCys [C]1410
516275181365 rs753514563 0.000 missenseCThr [T]2409
contig referenceGSer [S]2409
516275281355 rs1278006489 N.D. missenseTPhe [F]1406
contig referenceCLeu [L]1406
516275311352 rs1489138554 N.D. missenseAAsn [N]1405
contig referenceGAsp [D]1405
516275321351 rs202043727 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTSer [S]3404
contig referenceCSer [S]3404
516275351348 rs8104955 0.263byClusterbyFreqwith2hitWith1000GenomeData0.1504 missenseGArg [R]3403
synonymousTSer [S]3403
contig referenceCSer [S]3403
516275361347 rs757857236 0.000byFreq missenseTIle [I]2403
contig referenceGSer [S]2403
516275411342 rs757443214 0.000 frame shift-Ser [S]3402
contig referenceGLeu [L]3402
516275411342 rs781674980 0.000byFreq synonymousAGly [G]3401
synonymousTGly [G]3401
contig referenceGGly [G]3401
516275421341 rs756460189 0.000 missenseAGlu [E]2401
missenseTVal [V]2401
contig referenceGGly [G]2401
516275431340 rs139097319 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAArg [R]1401
contig referenceGGly [G]1401
516275441339 rs1173562294 N.D. synonymousAGly [G]3400
contig referenceGGly [G]3400
516275461337 rs749481373 0.000byFreq missenseAArg [R]1400
missenseTTrp [W]1400
contig referenceGGly [G]1400
516275471336 rs1011645346 N.D. missenseGGln [Q]3399
synonymousTHis [H]3399
contig referenceCHis [H]3399
516275481335 rs774582207 0.000byFreq missenseCPro [P]2399
contig referenceAHis [H]2399
516275531330 rs1383747377 N.D. synonymousTIle [I]3397
contig referenceCIle [I]3397
516275561327 rs996135135 N.D. synonymousALeu [L]3396
contig referenceGLeu [L]3396
516275581325 rs1027576336 N.D. synonymousTLeu [L]1396
contig referenceCLeu [L]1396
516275591324 rs1300654095 N.D. synonymousASer [S]3395
contig referenceCSer [S]3395
516275611322 rs952141580 N.D. missenseAThr [T]1395
contig referenceTSer [S]1395
516275651318 rs745907200 0.000 missenseALys [K]3393
missenseGLys [K]3393
contig referenceCAsn [N]3393
516275691314 rs1355336638 N.D. missenseAAsp [D]2392
contig referenceCAla [A]2392
516275771306 rs8107754 0.488byClusterbyFreqwith2hitWith1000GenomeData0.3287 synonymousTGly [G]3389
contig referenceGGly [G]3389
516275781305 rs775480567 0.000 missenseAGlu [E]2389
contig referenceGGly [G]2389
516275791304 rs967903743 N.D. missenseTTrp [W]1389
contig referenceGGly [G]1389
516275821301 rs760573678 0.000byFreq missenseAThr [T]1388
contig referenceGAla [A]1388
516275841299 rs1261665139 N.D. missenseTLeu [L]2387
contig referenceCSer [S]2387
516275881295 rs1355588201 N.D. missenseGGly [G]1386
contig referenceASer [S]1386
516275961287 rs572000190 0.000With1000GenomeData0.0002 missenseCAla [A]2383
contig referenceTVal [V]2383
516275971286 rs147941959 0.000byCluster missenseAIle [I]1383
contig referenceGVal [V]1383
516275991284 rs545447202 0.000byClusterWith1000GenomeData0.0002 missenseGArg [R]2382
contig referenceALys [K]2382
516276041279 rs1455830172 N.D. synonymousTSer [S]3380
contig referenceASer [S]3380
516276071276 rs1203584970 N.D. synonymousTGly [G]3379
contig referenceCGly [G]3379
516276121271 rs367911659 N.D.byCluster nonsenseT1378
contig referenceCGln [Q]1378
516276151268 rs1015864179 N.D. missenseGGly [G]1377
contig referenceASer [S]1377
516276191264 rs761721995 0.000 synonymousTAsn [N]3375
contig referenceCAsn [N]3375
516276201263 rs1193577478 N.D. missenseCThr [T]2375
contig referenceAAsn [N]2375
516276221261 rs764922689 0.000byFreq synonymousAGly [G]3374
synonymousTGly [G]3374
contig referenceGGly [G]3374
516276241259 rs1441967002 N.D. missenseAArg [R]1374
contig referenceGGly [G]1374
516276251258 rs757920776 0.000 synonymousAGlu [E]3373
contig referenceGGlu [E]3373
516276271256 rs1363551058 N.D. nonsenseT1373
missenseCGln [Q]1373
contig referenceGGlu [E]1373
516276281255 rs765863946 0.000 synonymousALeu [L]3372
contig referenceGLeu [L]3372
516276311252 rs753225797 0.000byFreq synonymousAPro [P]3371
contig referenceGPro [P]3371
516276321251 rs756656414 0.000 missenseAGln [Q]2371
missenseTLeu [L]2371
contig referenceCPro [P]2371
516276371244 rs1460405830 N.D. -1369
516276381229 rs1323843148 N.D. frame shift-Glu [E]1364
contig reference(17bp)Cys [C]1364
516276381245 rs1378957765 N.D. missenseCAla [A]2369
missenseGGly [G]2369
contig referenceAGlu [E]2369
516276401243 rs778286833 0.000 missenseCAsp [D]3368
missenseTAsp [D]3368
contig referenceGGlu [E]3368
516276421241 rs556965366 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]1368
missenseCGln [Q]1368
contig referenceGGlu [E]1368
516276461237 rs779128062 0.000 synonymousCArg [R]3366
contig referenceGArg [R]3366
516276471236 rs140164027 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2366
contig referenceGArg [R]2366
516276481235 rs371746250 0.000byClusterbyFreq missenseTTrp [W]1366
synonymousAArg [R]1366
contig referenceCArg [R]1366
516276521231 rs775470571 0.000 nonsenseA3364
synonymousTCys [C]3364
contig referenceCCys [C]3364
516276531230 rs1213107243 N.D. missenseATyr [Y]2364
contig referenceGCys [C]2364
516276581225 rs1281222624 N.D. synonymousTSer [S]3362
contig referenceCSer [S]3362
516276591224 rs1459508839 N.D. missenseTPhe [F]2362
contig referenceCSer [S]2362
516276601223 rs768664168 0.000 missenseGAla [A]1362
contig referenceTSer [S]1362
516276611222 rs776721147 0.000 synonymousAPro [P]3361
synonymousTPro [P]3361
contig referenceCPro [P]3361
516276621221 rs377329373 0.000byCluster missenseAHis [H]2361
contig referenceCPro [P]2361
516276631220 rs1189194975 N.D. missenseAThr [T]1361
contig referenceCPro [P]1361
516276651218 rs1418073641 N.D. missenseAAsp [D]2360
contig referenceCAla [A]2360
516276671216 rs536302086 0.000byFreqWith1000GenomeData0.0004 synonymousAPro [P]3359
contig referenceGPro [P]3359
516276681215 rs772906943 0.000byFreq missenseGArg [R]2359
missenseTLeu [L]2359
contig referenceCPro [P]2359
516276701213 rs762562024 0.000 synonymousAArg [R]3358
synonymousTArg [R]3358
contig referenceGArg [R]3358
516276711212 rs765883490 0.000 missenseAGln [Q]2358
missenseTLeu [L]2358
contig referenceGArg [R]2358
516276721211 rs8108074 0.286byClusterbyFreqwith2hitWith1000GenomeData0.1785 missenseGGly [G]1358
missenseTTrp [W]1358
contig referenceCArg [R]1358
516276731210 rs770315173 0.000byFreq synonymousAAla [A]3357
synonymousTAla [A]3357
contig referenceCAla [A]3357
516276751208 rs1397495214 N.D. missenseTSer [S]1357
contig referenceGAla [A]1357
516276771206 rs764529624 0.000 missenseAGln [Q]2356
missenseCPro [P]2356
contig referenceGArg [R]2356
516276781205 rs8108078 0.026byClusterbyFreqwith2hitWith1000GenomeData0.0451 nonsenseT1356
nonsenseT1356
missenseGGly [G]1356
missenseGGly [G]1356
synonymousAArg [R]1356
synonymousAArg [R]1356
contig referenceCArg [R]1356
contig referenceCArg [R]1356
516276831200 rs779191122 0.000 missenseTPhe [F]2354
contig referenceCSer [S]2354
516276861197 rs750623682 0.000byFreq missenseATyr [Y]2353
contig referenceGCys [C]2353
516276871196 rs200372912 0.000byClusterbyFreq missenseCArg [R]1353
contig referenceTCys [C]1353
516276881195 rs533765364 0.000With1000GenomeData0.0002 synonymousGArg [R]3352
contig referenceAArg [R]3352
516276891194 rs558413990 0.000byFreqWith1000GenomeData0.0002 missenseTIle [I]2352
contig referenceGArg [R]2352
516276931190 rs768858546 0.000byFreq missenseGGly [G]1351
contig referenceTCys [C]1351
516276981185 rs1171621754 N.D. missenseCPro [P]2349
contig referenceTLeu [L]2349
516277011182 rs781270936 0.000 missenseAAsp [D]2348
contig referenceGGly [G]2348
516277031180 rs1390324413 N.D. synonymousAGlu [E]3347
contig referenceGGlu [E]3347
516277041179 rs1258626889 N.D. missenseTVal [V]2347
contig referenceAGlu [E]2347
516277061177 rs1485164377 N.D. synonymousCAla [A]3346
contig referenceTAla [A]3346
516277081175 rs748153203 0.000 missenseAThr [T]1346
missenseTSer [S]1346
contig referenceGAla [A]1346
516277111172 rs1425221520 N.D. missenseALys [K]1345
contig referenceGGlu [E]1345
516277141169 rs769609635 0.000 missenseCArg [R]1344
contig referenceTTrp [W]1344
516277151168 rs772921587 0.000 synonymousTSer [S]3343
contig referenceCSer [S]3343
516277191164 rs868356246 N.D.byCluster missenseTPhe [F]2342
contig referenceGCys [C]2342
516277211162 rs545731633 0.001byClusterbyFreqWith1000GenomeData0.0012 synonymousASer [S]3341
contig referenceCSer [S]3341
516277221161 rs574831178 0.000byClusterbyFreq missenseGCys [C]2341
missenseTPhe [F]2341
contig referenceCSer [S]2341
516277251158 rs774008208 0.000 missenseAHis [H]2340
contig referenceCPro [P]2340
516277261157 rs998149464 N.D. missenseGAla [A]1340
contig referenceCPro [P]1340
516277271156 rs758983833 0.000 synonymousTGly [G]3339
contig referenceCGly [G]3339
516277281155 rs1414453343 N.D. missenseAAsp [D]2339
contig referenceGGly [G]2339
516277311152 rs767085421 0.000byFreq missenseCPro [P]2338
contig referenceTLeu [L]2338
516277361137 rs1364172792 N.D. frame shift-Phe [F]2333
contig reference(11bp)Ser [S]2333
516277371146 rs376401216 0.000byClusterWith1000GenomeData0.0002 missenseGArg [R]2336
contig referenceAGln [Q]2336
516278341136 rs770767367 0.000byFreq missenseCPro [P]1333
contig referenceTSer [S]1333
516278371133 rs1288403379 N.D. missenseCHis [H]1332
contig referenceTTyr [Y]1332
516278411129 rs773992476 0.000byFreq synonymousCSer [S]3330
contig referenceASer [S]3330
516278411128 rs1163421667 N.D. frame shift-Cys [C]2330
contig referenceCASer [S]2330
516278421128 rs1266316559 N.D. nonsenseA2330
contig referenceCSer [S]2330
516278451125 rs759247103 0.000 missenseAHis [H]2329
contig referenceTLeu [L]2329
516278501120 rs1304736398 N.D. synonymousTLeu [L]3327
contig referenceGLeu [L]3327
516278551115 rs771536838 0.000byFreq missenseCLeu [L]1326
contig referenceTPhe [F]1326
516278571113 rs774937510 0.000byFreq missenseCThr [T]2325
missenseGSer [S]2325
contig referenceTIle [I]2325
516278591111 rs145698028 0.005byClusterbyFreqWith1000GenomeData0.0004 synonymousGGln [Q]3324
contig referenceAGln [Q]3324
516278611109 rs1317198324 N.D. missenseALys [K]1324
contig referenceCGln [Q]1324
516278621108 rs750944014 0.000 synonymousALeu [L]3323
synonymousCLeu [L]3323
contig referenceGLeu [L]3323
516278631107 rs1251672288 N.D. missenseCPro [P]2323
contig referenceTLeu [L]2323
516278641106 rs763221746 0.000byFreq synonymousTLeu [L]1323
contig referenceCLeu [L]1323
516278661104 rs2278831 0.170byClusterbyFreqWith1000GenomeData0.0954 missenseCSer [S]2322
missenseCSer [S]2322
contig referenceTPhe [F]2322
contig referenceTPhe [F]2322
516278711086 rs746417816 0.000 frame shift-Gly [G]2316
contig reference(14bp)Ala [A]2316
516278721098 rs770422511 0.000byFreq frame shift-Arg [R]2320
contig referenceTLeu [L]2320
516278731097 rs751808822 0.000 synonymousTLeu [L]1320
contig referenceCLeu [L]1320
516278731096 rs775777383 0.000byFreq frame shift-Gly [G]3320
contig referenceGCLeu [L]3320
516278741096 rs528680868 0.000byFreqWith1000GenomeData0.0002 synonymousAPro [P]3319
contig referenceGPro [P]3319
516278751095 rs767883806 0.000 missenseTLeu [L]2319
contig referenceCPro [P]2319
516278771093 rs1408400902 N.D. synonymousTHis [H]3318
contig referenceCHis [H]3318
516278791091 rs752777277 0.000byFreq missenseAAsn [N]1318
missenseGAsp [D]1318
contig referenceCHis [H]1318
516278801090 rs1291266282 N.D. synonymousAGln [Q]3317
contig referenceGGln [Q]3317
516278831087 rs375028282 0.000byCluster synonymousAAla [A]3316
contig referenceTAla [A]3316
516278851085 rs777507456 0.000byFreq missenseAThr [T]1316
contig referenceGAla [A]1316
516278861084 rs749318982 0.000byFreq synonymousTArg [R]3315
contig referenceCArg [R]3315
516278871083 rs769197531 0.000byFreq missenseAHis [H]2315
missenseTLeu [L]2315
contig referenceGArg [R]2315
516278881082 rs778716107 0.000 missenseGGly [G]1315
missenseTCys [C]1315
contig referenceCArg [R]1315
516278891081 rs1323608616 N.D. synonymousTCys [C]3314
contig referenceCCys [C]3314
516278901080 rs745689680 0.000byFreq missenseATyr [Y]2314
contig referenceGCys [C]2314
516278911079 rs1213697906 N.D. missenseGGly [G]1314
contig referenceTCys [C]1314
516278921078 rs201936835 0.000byClusterWith1000GenomeData0.0002 synonymousGThr [T]3313
contig referenceCThr [T]3313
516278941076 rs775133889 0.019byFreq missenseCPro [P]1313
contig referenceAThr [T]1313
516278961074 rs1222861550 N.D. missenseCSer [S]2312
contig referenceTPhe [F]2312
516278991071 rs1391766269 N.D. missenseAAsp [D]2311
contig referenceGGly [G]2311
516279021068 rs746435791 0.000byFreq missenseAGlu [E]2310
contig referenceGGly [G]2310
516279051065 rs1251205865 N.D. missenseGGly [G]2309
contig referenceAGlu [E]2309
516279061064 rs1304325671 N.D. missenseALys [K]1309
contig referenceGGlu [E]1309
516279091061 rs957047682 N.D. missenseALys [K]1308
contig referenceGGlu [E]1308
516279171053 rs992459941 N.D. missenseALys [K]2305
contig referenceGArg [R]2305
516279241046 rs149130627 0.002byClusterbyFreqWith1000GenomeData0.0010 nonsenseT1303
contig referenceCArg [R]1303
516279251045 rs1351470496 N.D. frame shift-Glu [E]3303
contig referenceTArg [R]3303
516279261044 rs142273811 0.000byCluster missenseAHis [H]2302
contig referenceGArg [R]2302
516279271043 rs151263979 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]1302
contig referenceCArg [R]1302
516279291041 rs1166578269 N.D. missenseGArg [R]2301
contig referenceTLeu [L]2301
516279321038 rs766820402 0.000 missenseGGly [G]2300
contig referenceAGlu [E]2300
516279371033 rs1418312863 N.D. synonymousTIle [I]3298
contig referenceCIle [I]3298
516279431027 rs774816616 0.000byFreq synonymousTThr [T]3296
contig referenceCThr [T]3296
516279441026 rs1467113675 N.D. missenseAAsn [N]2296
contig referenceCThr [T]2296
516279461024 rs760002872 0.000 synonymousCAsn [N]3295
contig referenceTAsn [N]3295
516279491012 rs1467330860 N.D. frame shift-Ile [I]3292
contig reference(10bp)Pro [P]3292
516279521018 rs767791474 0.000byFreq synonymousTIle [I]3293
contig referenceCIle [I]3293
516279531017 rs199698179 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]2293
missenseCThr [T]2293
contig referenceTIle [I]2293
516279551015 rs201727320 0.000byClusterWith1000GenomeData0.0002 synonymousTPro [P]3292
contig referenceCPro [P]3292
516279561014 rs1401801442 N.D. missenseAHis [H]2292
contig referenceCPro [P]2292
516279571013 rs1176841771 N.D. missenseTSer [S]1292
contig referenceCPro [P]1292
516279611009 rs1210361057 N.D. synonymousAAla [A]3290
contig referenceCAla [A]3290
516279631007 rs764295708 0.000byFreq missenseAThr [T]1290
contig referenceGAla [A]1290
516279641006 rs376870702 0.000byClusterbyFreqWith1000GenomeData0.0010 synonymousTAsn [N]3289
contig referenceCAsn [N]3289
516279701000 rs757174368 0.000 synonymousTAla [A]3287
contig referenceCAla [A]3287
51627971999 rs778840660 0.000 missenseAAsp [D]2287
missenseTVal [V]2287
contig referenceCAla [A]2287
51627972998 rs762147930 N.D. missenseCPro [P]1287
contig referenceGAla [A]1287
51627976994 rs745601639 0.000 synonymousTSer [S]3285
contig referenceCSer [S]3285
51627978981 rs1355481969 N.D. -2281
51627980990 rs1441878375 N.D. missenseTVal [V]2284
contig referenceGGly [G]2284
51627981989 rs868543869 N.D.byCluster missenseASer [S]1284
missenseTCys [C]1284
contig referenceGGly [G]1284
51627982988 rs200802674 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAGln [Q]3283
contig referenceGGln [Q]3283
51627985985 rs867957294 N.D. synonymousTPhe [F]3282
contig referenceCPhe [F]3282
51627988982 rs1357028194 N.D. nonsenseA3281
contig referenceGTrp [W]3281
51627989981 rs779675082 0.000 nonsenseA2281
contig referenceGTrp [W]2281
51627996974 rs140633267 0.009byClusterbyFreqWith1000GenomeData0.0034 synonymousTLeu [L]1279
contig referenceCLeu [L]1279
51627997973 rs750550219 N.D. missenseAGln [Q]3278
contig referenceCHis [H]3278
51627998972 rs768028005 0.000 missenseGArg [R]2278
contig referenceAHis [H]2278
51628003966 rs149243374 0.007byClusterbyFreqWith1000GenomeData0.0008 frame shiftCCys [C]2277
contig reference-Ala [A]2277
51628003967 rs776244827 0.000 synonymousCPro [P]3276
contig referenceTPro [P]3276
51628004966 rs1216271497 N.D. missenseTLeu [L]2276
contig referenceCPro [P]2276
51628005965 rs1273547583 N.D. missenseTSer [S]1276
contig referenceCPro [P]1276
51628007963 rs1437048750 N.D. missenseTLeu [L]2275
contig referenceCPro [P]2275
51628008962 rs747643518 0.000 missenseGAla [A]1275
missenseTSer [S]1275
contig referenceCPro [P]1275
51628009961 rs1259333813 N.D. synonymousTAsn [N]3274
contig referenceCAsn [N]3274
51628012958 rs771516172 0.000 missenseAArg [R]3273
synonymousTSer [S]3273
contig referenceCSer [S]3273
51628013957 rs775012896 0.000 missenseAAsn [N]2273
contig referenceGSer [S]2273
51628016954 rs759914871 0.000 missenseTLeu [L]2272
contig referenceCPro [P]2272
51628019951 rs200984518 0.000byClusterbyFreq missenseTVal [V]2271
contig referenceCAla [A]2271
51628022948 rs1471811867 N.D. missenseGGly [G]2270
contig referenceAAsp [D]2270
51628023947 rs1170176687 N.D. missenseAAsn [N]1270
contig referenceGAsp [D]1270
51628029941 rs78888545 0.000byClusterbyFreq missenseGVal [V]1268
contig referenceCLeu [L]1268
51628034936 rs761011703 0.000byFreq missenseAGln [Q]2266
missenseTLeu [L]2266
contig referenceGArg [R]2266
51628035935 rs200062824 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTTrp [W]1266
contig referenceCArg [R]1266
51628038932 rs1452586142 N.D. synonymousTLeu [L]1265
contig referenceCLeu [L]1265
51628041929 rs1250152759 N.D. missenseAThr [T]1264
contig referenceGAla [A]1264
51628043927 rs61736487 0.009byClusterbyFreqWith1000GenomeData0.0120 missenseGArg [R]2263
contig referenceAGln [Q]2263
51628050920 rs1415079702 N.D. missenseALys [K]1261
contig referenceGGlu [E]1261
51628051919 rs1311838462 N.D. synonymousALeu [L]3260
contig referenceGLeu [L]3260
51628057913 rs61736486 0.095byClusterbyFreqWith1000GenomeData0.0721 synonymousAPro [P]3258
contig referenceGPro [P]3258
51628058912 rs765090595 0.000byFreq missenseTLeu [L]2258
contig referenceCPro [P]2258
51628061909 rs750425480 0.000byFreq missenseAHis [H]2257
contig referenceTLeu [L]2257
51628066904 rs758174853 0.000 synonymousCSer [S]3255
contig referenceASer [S]3255
51628069901 rs969862078 N.D. synonymousGThr [T]3254
contig referenceCThr [T]3254
51628075895 rs113048597 0.003byClusterbyFreqWith1000GenomeData0.0002 synonymousGGln [Q]3252
contig referenceAGln [Q]3252
51628083887 rs751141302 0.000 missenseTPhe [F]1250
contig referenceAIle [I]1250
51628086884 rs903276857 N.D. missenseALys [K]1249
contig referenceGGlu [E]1249
51628089881 rs375504977 0.000byClusterWith1000GenomeData0.0002 synonymousTLeu [L]1248
contig referenceCLeu [L]1248
51628090880 rs376490830 0.000byCluster synonymousGAla [A]3247
synonymousTAla [A]3247
contig referenceCAla [A]3247
51628091879 rs780731484 0.000byFreq missenseTVal [V]2247
contig referenceCAla [A]2247
51629041875 rs371481834 0.000byClusterbyFreq missenseGVal [V]1246
contig referenceAIle [I]1246
51629043873 rs780435059 0.000 missenseCAla [A]2245
contig referenceGGly [G]2245
51629044872 rs747328477 0.000byFreq missenseASer [S]1245
missenseCArg [R]1245
missenseTCys [C]1245
contig referenceGGly [G]1245
51629045871 rs144851057 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseALys [K]3244
synonymousTAsn [N]3244
contig referenceCAsn [N]3244
51629049867 rs973223906 N.D. missenseALys [K]2243
contig referenceGArg [R]2243
51629054862 rs138661806 0.000byCluster missenseGMet [M]3241
synonymousAIle [I]3241
contig referenceCIle [I]3241
51629055861 rs149233145 0.000byClusterbyFreq missenseAAsn [N]2241
contig referenceTIle [I]2241
51629056860 rs929075480 N.D. missenseGVal [V]1241
missenseTPhe [F]1241
contig referenceAIle [I]1241
51629059857 rs1337293472 N.D. missenseTSer [S]1240
contig referenceAThr [T]1240
51629062854 rs1315271563 N.D. missenseTPhe [F]1239
contig referenceAIle [I]1239
51629063853 rs1241466712 N.D. frame shift-Ser [S]3239
contig referenceCIle [I]3239
51629064852 rs1046170066 N.D. missenseTIle [I]2238
contig referenceCThr [T]2238
51629071845 rs773235543 0.000byFreq missenseGAla [A]1236
missenseTSer [S]1236
contig referenceCPro [P]1236
51629072844 rs2305372 0.128byClusterbyFreqWith1000GenomeData0.1418 synonymousAAla [A]3235
synonymousAAla [A]3235
contig referenceTAla [A]3235
contig referenceTAla [A]3235
51629359838 rs756775363 0.000byFreq synonymousTSer [S]3233
contig referenceCSer [S]3233
51629359837 rs765204277 0.000 frame shiftTCPro [P]2234
contig reference-Tyr [Y]2234
51629361836 rs201585281 0.002byCluster YesmissenseCPro [P]1233
contig referenceTSer [S]1233
51629364833 rs764700383 0.000 missenseAIle [I]1232
contig referenceGVal [V]1232
51629366831 rs376678374 0.000byClusterbyFreq YesmissenseGSer [S]2231
missenseTIle [I]2231
contig referenceAAsn [N]2231
51629367830 rs566021929 0.000byFreqWith1000GenomeData0.0006 missenseCHis [H]1231
contig referenceAAsn [N]1231
51629370827 rs1356187017 N.D. missenseGVal [V]1230
contig referenceCLeu [L]1230
51629373824 rs752518013 0.000 frame shift-Ser [S]1229
contig referenceCGln [Q]1229
51629373824 rs1303763563 N.D. nonsenseT1229
contig referenceCGln [Q]1229
51629374823 rs781680188 0.000 synonymousTVal [V]3228
contig referenceCVal [V]3228
51629385812 rs1265063672 N.D. nonsenseT1225
contig referenceGGlu [E]1225
51629386811 rs373250074 0.000byClusterbyFreq YessynonymousAThr [T]3224
synonymousCThr [T]3224
contig referenceGThr [T]3224
51629387810 rs756476592 0.000byFreq missenseTMet [M]2224
contig referenceCThr [T]2224
51629389808 rs777969221 0.000 synonymousAThr [T]3223
contig referenceCThr [T]3223
51629394803 rs758215349 0.000byFreq frame shift-1222
contig referenceGVal [V]1222
51629404793 rs749537528 0.000 synonymousGGln [Q]3218
contig referenceAGln [Q]3218
51629408789 rs771008845 0.000 missenseAHis [H]2217
contig referenceGArg [R]2217
51629409788 rs1360404047 N.D. missenseTCys [C]1217
contig referenceCArg [R]1217
51629410787 rs1296424965 N.D. missenseTAsn [N]3216
contig referenceALys [K]3216
51629411786 rs1485072466 N.D. missenseCThr [T]2216
contig referenceALys [K]2216
51629414783 rs774340778 0.000byFreq missenseALys [K]2215
contig referenceTMet [M]2215
51629415782 rs1807124 0.374byClusterbyFreqwith2hit YesmissenseGVal [V]1215
missenseGVal [V]1215
missenseTLeu [L]1215
missenseTLeu [L]1215
contig referenceAMet [M]1215
contig referenceAMet [M]1215
51629416781 rs775585747 0.000byFreq missenseTHis [H]3214
contig referenceGGln [Q]3214
51629417780 rs760536380 0.000 missenseGArg [R]2214
contig referenceAGln [Q]2214
51629419778 rs768641784 0.000 synonymousCCys [C]3213
contig referenceTCys [C]3213
51629422775 rs776394512 0.000 synonymousTThr [T]3212
contig referenceCThr [T]3212
51629423774 rs1175797088 N.D. missenseGSer [S]2212
contig referenceCThr [T]2212
51629428769 rs761423237 0.000 missenseALys [K]3210
contig referenceCAsn [N]3210
51629430760 rs1422862708 N.D. frame shift-Gln [Q]3207
contig reference(8bp)His [H]3207
51629433764 rs1465700333 N.D. missenseGAla [A]1209
contig referenceAThr [T]1209
51629434762 rs763757265 0.000byFreq frame shiftGGAla [A]2209
contig reference-Thr [T]2209
51629434763 rs1187999837 N.D. synonymousGGly [G]3208
contig referenceCGly [G]3208
51629437760 rs1173755677 N.D. missenseGGln [Q]3207
contig referenceTHis [H]3207
51629437757 rs1262307641 N.D. frame shift-Glu [E]3206
contig referenceCCATAsp [D]3206
51629440757 rs539755873 0.000With1000GenomeData0.0002 synonymousTAsp [D]3206
contig referenceCAsp [D]3206
51629443754 rs749861376 0.000 synonymousAGlu [E]3205
contig referenceGGlu [E]3205
51629446751 rs552559234 0.000byFreqWith1000GenomeData0.0002 synonymousAPro [P]3204
synonymousGPro [P]3204
contig referenceCPro [P]3204
51629446751 rs751828330 0.000byFreq frame shift-Arg [R]3205
contig referenceCGlu [E]3205
51629451746 rs767954625 0.000 missenseGGly [G]1203
contig referenceAArg [R]1203
51629454743 rs1209044898 N.D. missenseTSer [S]1202
contig referenceCPro [P]1202
51629455742 rs1236888668 N.D. synonymousTThr [T]3201
contig referenceCThr [T]3201
51629458739 rs1281467553 N.D. synonymousTLeu [L]3200
contig referenceCLeu [L]3200
51629466731 rs1311373014 N.D. missenseTPhe [F]1198
contig referenceCLeu [L]1198
51629471726 rs1311292762 N.D. missenseTLeu [L]2196
contig referenceCSer [S]2196
51629472725 rs1207583181 N.D. missenseCPro [P]1196
contig referenceTSer [S]1196
51629473724 rs753260823 0.000 synonymousASer [S]3195
synonymousTSer [S]3195
contig referenceCSer [S]3195
51629474723 rs756464645 0.000 missenseTPhe [F]2195
contig referenceCSer [S]2195
51629476721 rs778148017 0.000byFreq synonymousTArg [R]3194
contig referenceCArg [R]3194
51629478719 rs1055722612 N.D. missenseGGly [G]1194
missenseTCys [C]1194
contig referenceCArg [R]1194
51629479718 rs148006234 0.000byClusterbyFreq YessynonymousTThr [T]3193
contig referenceCThr [T]3193
51629480717 rs570881417 0.000byFreqWith1000GenomeData0.0002 missenseTIle [I]2193
contig referenceCThr [T]2193
51629485712 rs1432876833 N.D. missenseCAsp [D]3191
contig referenceGGlu [E]3191
51629487710 rs537918447 0.000With1000GenomeData0.0002 missenseALys [K]1191
contig referenceGGlu [E]1191
51629488709 rs200210701 0.020byClusterbyFreqWith1000GenomeData0.0122 YessynonymousTPro [P]3190
contig referenceCPro [P]3190
51629489708 rs1454339494 N.D. missenseAHis [H]2190
missenseTLeu [L]2190
contig referenceCPro [P]2190
51629490707 rs772339797 0.000 missenseAThr [T]1190
contig referenceCPro [P]1190
51629495702 rs757523146 0.000byFreq frame shift-Arg [R]2188
contig referenceTLeu [L]2188
51629495701 rs1465995235 N.D. frame shiftCPro [P]1188
contig reference-Leu [L]1188
51629496701 rs1422647858 N.D. synonymousTLeu [L]1188
contig referenceCLeu [L]1188
51629498699 rs1168492329 N.D. missenseGArg [R]2187
contig referenceCPro [P]2187
51629499698 rs374818540 0.000byClusterbyFreq YesmissenseTSer [S]1187
contig referenceCPro [P]1187
51629503694 rs574912773 0.000byFreqWith1000GenomeData0.0004 synonymousTLeu [L]3185
contig referenceCLeu [L]3185
51629506691 rs768551629 0.000 synonymousTAla [A]3184
contig referenceCAla [A]3184
51629509687 rs1482073626 N.D. frame shiftALys [K]2183
contig reference-Asn [N]2183
51629515682 rs1217132416 N.D. synonymousAThr [T]3181
contig referenceGThr [T]3181
51629516681 rs776241864 0.000 missenseGArg [R]2181
missenseTMet [M]2181
contig referenceCThr [T]2181
51629520677 rs761700635 0.000 missenseCArg [R]1180
contig referenceTTrp [W]1180
51629521676 rs1317768771 N.D. synonymousTSer [S]3179
contig referenceCSer [S]3179
51629522675 rs1207503947 N.D. missenseGCys [C]2179
missenseTPhe [F]2179
contig referenceCSer [S]2179
51629524673 rs1235731252 N.D. synonymousTPhe [F]3178
contig referenceCPhe [F]3178
51629526671 rs1287872935 N.D. missenseCLeu [L]1178
contig referenceTPhe [F]1178
51629530667 rs769264495 0.000 synonymousGLeu [L]3176
synonymousTLeu [L]3176
contig referenceCLeu [L]3176
51629533664 rs1029585476 N.D. synonymousGPro [P]3175
contig referenceTPro [P]3175
51629535662 rs772930577 0.000byFreq missenseTSer [S]1175
contig referenceCPro [P]1175
51629540657 rs1299023779 N.D. missenseCAla [A]2173
contig referenceGGly [G]2173
51629541656 rs1214228622 N.D. missenseAArg [R]1173
contig referenceGGly [G]1173
51629542655 rs1245923488 N.D. synonymousAAla [A]3172
contig referenceGAla [A]3172
51629543654 rs369175388 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTVal [V]2172
contig referenceCAla [A]2172
51629544653 rs1399332594 N.D. missenseAThr [T]1172
contig referenceGAla [A]1172
51629551646 rs765939831 0.000byFreq synonymousTSer [S]3169
contig referenceCSer [S]3169
51629557640 rs1462976022 N.D. synonymousCPro [P]3167
contig referenceAPro [P]3167
51629562635 rs753169272 0.000 missenseTPhe [F]1166
contig referenceCLeu [L]1166
51629564633 rs554032872 0.000With1000GenomeData0.0002 missenseAAsn [N]2165
contig referenceGSer [S]2165
51629574623 rs1158572665 N.D. missenseAMet [M]1162
contig referenceCLeu [L]1162
51629578619 rs1368915713 N.D. synonymousGThr [T]3160
contig referenceAThr [T]3160
51629582615 rs1409844315 N.D. missenseGArg [R]2159
contig referenceCPro [P]2159
51629585612 rs1006910549 N.D. missenseCPro [P]2158
contig referenceGArg [R]2158
51629589608 rs1463530263 N.D. missenseASer [S]1157
missenseCArg [R]1157
contig referenceGGly [G]1157
51629590607 rs764605068 0.000 synonymousTSer [S]3156
contig referenceCSer [S]3156
51629590591 rs1178910268 N.D. frame shift-Arg [R]2151
contig reference(17bp)Leu [L]2151
51629591606 rs1457025577 N.D. missenseTPhe [F]2156
contig referenceCSer [S]2156
51629592605 rs1236760486 N.D. missenseCPro [P]1156
contig referenceTSer [S]1156
51629598599 rs1349671272 N.D. synonymousTLeu [L]1154
contig referenceCLeu [L]1154
51629599598 rs1434718322 N.D. synonymousCPro [P]3153
contig referenceTPro [P]3153
51629600597 rs754107524 0.000 missenseTLeu [L]2153
contig referenceCPro [P]2153
51629601596 rs1299552676 N.D. missenseTSer [S]1153
contig referenceCPro [P]1153
51629607590 rs1373673042 N.D. synonymousTLeu [L]1151
contig referenceCLeu [L]1151
51629613584 rs1017883108 N.D. missenseAAsn [N]1149
contig referenceCHis [H]1149
51629620577 rs1227390060 N.D. synonymousGPro [P]3146
synonymousTPro [P]3146
contig referenceCPro [P]3146
51629621576 rs1193652339 N.D. missenseAHis [H]2146
contig referenceCPro [P]2146
51629622575 rs1285973685 N.D. missenseAThr [T]1146
missenseTSer [S]1146
contig referenceCPro [P]1146
51629630567 rs757641087 0.000 missenseCThr [T]2143
missenseGArg [R]2143
contig referenceTIle [I]2143
51629633564 rs1393961200 N.D. missenseCPro [P]2142
contig referenceTLeu [L]2142
51629634563 rs1233827079 N.D. missenseGVal [V]1142
synonymousTLeu [L]1142
contig referenceCLeu [L]1142
51629636561 rs1289008333 N.D. missenseTVal [V]2141
contig referenceCAla [A]2141
51629833560 rs764515184 0.000byFreq missenseAThr [T]1141
missenseCPro [P]1141
missenseTSer [S]1141
contig referenceGAla [A]1141
51629835558 rs200820951 0.000byClusterbyFreq YesmissenseTIle [I]2140
contig referenceCThr [T]2140
51629839554 rs1264455342 N.D. missenseAMet [M]1139
contig referenceGVal [V]1139
51629841552 rs750590284 0.000 missenseCAla [A]2138
contig referenceAGlu [E]2138
51629842551 rs1434918122 N.D. missenseALys [K]1138
contig referenceGGlu [E]1138
51629845548 rs201954824 0.000byClusterbyFreq YessynonymousCLeu [L]1137
contig referenceTLeu [L]1137
51629848545 rs1338178698 N.D. missenseTTyr [Y]1136
contig referenceAAsn [N]1136
51629855538 rs766739903 0.000 synonymousCAsn [N]3133
contig referenceTAsn [N]3133
51629860533 rs1193559148 N.D. missenseGGlu [E]1132
contig referenceCGln [Q]1132
51629861528 rs781489166 0.000 frame shift-Ser [S]2130
contig referenceACCAATyr [Y]2130
51629861500 rs1487387903 N.D. -1121
51629867522 rs745932100 N.D. frame shift-Leu [L]2128
contig referenceATAGCTyr [Y]2128
51629867499 rs756205643 0.000 frame shift-Thr [T]3121
contig reference(28bp)Glu [E]3121
51629869524 rs1232338561 N.D. missenseGGly [G]1129
contig referenceASer [S]1129
51629871522 rs751623037 0.000 missenseGCys [C]2128
contig referenceATyr [Y]2128
51629874519 rs755122651 0.000 missenseGArg [R]2127
contig referenceALys [K]2127
51629876517 rs1201296304 N.D. synonymousGVal [V]3126
contig referenceAVal [V]3126
51629879514 rs780978547 0.000 missenseAGlu [E]3125
contig referenceTAsp [D]3125
51629880513 rs1305335338 N.D. missenseTVal [V]2125
contig referenceAAsp [D]2125
51629885508 rs748182329 0.000 synonymousGGly [G]3123
contig referenceAGly [G]3123
51629886507 rs755833271 0.000 missenseAGlu [E]2123
contig referenceGGly [G]2123
51629892501 rs777669740 0.000byFreq missenseGGly [G]2121
contig referenceAGlu [E]2121
51629895498 rs749101348 0.000byFreq missenseCAla [A]2120
contig referenceTVal [V]2120
51629896497 rs1218592785 N.D. missenseAMet [M]1120
contig referenceGVal [V]1120
51629898495 rs770527359 0.000byFreq missenseAHis [H]2119
contig referenceGArg [R]2119
51629899494 rs773993688 0.000byFreq missenseTCys [C]1119
contig referenceCArg [R]1119
51629909484 rs559592597 0.001byFreqWith1000GenomeData0.0066 missenseAArg [R]3115
synonymousTSer [S]3115
contig referenceCSer [S]3115
51629914479 rs1397265527 N.D. nonsenseT1114
contig referenceGGly [G]1114
51629915478 rs533236117 0.000byFreqWith1000GenomeData0.0002 synonymousAThr [T]3113
contig referenceGThr [T]3113
51629916477 rs762434257 0.000byFreq missenseALys [K]2113
missenseTMet [M]2113
contig referenceCThr [T]2113
51629917476 rs1399442227 N.D. missenseGAla [A]1113
missenseTSer [S]1113
contig referenceAThr [T]1113
51629925468 rs1400961384 N.D. missenseALys [K]2110
contig referenceTMet [M]2110
51629926467 rs1401900640 N.D. missenseGVal [V]1110
contig referenceAMet [M]1110
51629928465 rs1321168310 N.D. missenseTIle [I]2109
contig referenceGArg [R]2109
51629929464 rs377628577 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGGly [G]1109
contig referenceAArg [R]1109
51629935458 rs1432775955 N.D. missenseTTyr [Y]1107
contig referenceGAsp [D]1107
51629938455 rs199864224 0.000byClusterbyFreq YesmissenseAArg [R]1106
contig referenceGGly [G]1106
51629939454 rs1371382400 N.D. synonymousTIle [I]3105
contig referenceCIle [I]3105
51629941452 rs1234239125 N.D. missenseGVal [V]1105
contig referenceAIle [I]1105
51629943450 rs1274442878 N.D. missenseAAsn [N]2104
contig referenceGSer [S]2104
51629949444 rs1342986666 N.D. missenseTPhe [F]2102
contig referenceCSer [S]2102
51629951442 rs1170647303 N.D. synonymousTCys [C]3101
contig referenceCCys [C]3101
51629953440 rs570741509 0.000byFreqWith1000GenomeData0.0014 missenseCArg [R]1101
contig referenceTCys [C]1101
51629955436 rs780617664 0.000byFreq -399
51629957436 rs766651781 0.000 missenseCAsn [N]399
contig referenceGLys [K]399
51629960433 rs374509897 0.005byClusterbyFreqWith1000GenomeData0.0054 YesmissenseCAsn [N]398
synonymousALys [K]398
contig referenceGLys [K]398
51629969424 rs1255300741 N.D. synonymousCAsp [D]395
contig referenceTAsp [D]395
51629971422 rs1452486176 N.D. frame shift-Met [M]195
contig referenceGAsp [D]195
51629973420 rs1197764359 N.D. missenseAGlu [E]294
contig referenceGGly [G]294
51629975418 rs1375524684 N.D. synonymousCLeu [L]393
contig referenceTLeu [L]393
51629980413 rs767675244 0.000byFreq missenseTPhe [F]192
contig referenceCLeu [L]192
51629982411 rs752553067 0.000 missenseAHis [H]291
missenseTLeu [L]291
contig referenceGArg [R]291
51629983410 rs550003561 0.000With1000GenomeData0.0004 missenseTCys [C]191
contig referenceCArg [R]191
51629984409 rs1042910970 N.D. missenseALeu [L]390
contig referenceCPhe [F]390
51629988405 rs376860084 0.002byClusterbyFreq YesmissenseTLeu [L]289
contig referenceGArg [R]289
51629991402 rs749012718 0.000 missenseAAsp [D]288
contig referenceGGly [G]288
51629992401 rs1385974752 N.D. missenseASer [S]188
contig referenceGGly [G]188
51630016377 rs757055154 0.000byFreq missenseGGly [G]180
contig referenceAArg [R]180
51630017376