NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
SNP linked to Gene (geneID:6641) Via Contig Annotation

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

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 2
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_011517239.1minus strandXP_011515541.1reverseNT_008046.17GRCh38.p7<- currently shown
NM_021021.3minus strandNP_066301.1reverseNT_008046.17GRCh38.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_008046.17XM_011517239.1XP_011515541.1reverseminus strand638, 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
1205361374581 rs1378968902 N.D. -
1205365634155 rs1019060140 N.D. -
1205367933925 rs1000847398 N.D. -
1205371513567 rs1373626861 N.D. -
1205371583560 rs1040399682 N.D. -
1205375703148 rs1258012970 N.D. -
1205377093006 rs1251325436 N.D. -
1205388801840 rs1041079731 N.D. synonymousAAla [A]3538
contig referenceCAla [A]3538
1205388811839 rs1236567271 N.D. missenseTVal [V]2538
contig referenceCAla [A]2538
1205388851835 rs770747477 0.000 missenseAMet [M]1537
contig referenceGVal [V]1537
1205388931827 rs1184566593 N.D. missenseGArg [R]2534
contig referenceTLeu [L]2534
1205388951825 rs1327890372 N.D. synonymousGArg [R]3533
contig referenceAArg [R]3533
1205388991821 rs375360963 0.000byCluster missenseTIle [I]2532
contig referenceCThr [T]2532
1205389021818 rs139912456 0.000byCluster missenseCThr [T]2531
contig referenceTIle [I]2531
1205389041816 rs1336261859 N.D. missenseTAsn [N]3530
contig referenceGLys [K]3530
1205389071813 rs1169843166 N.D. synonymousCAla [A]3529
contig referenceTAla [A]3529
1205389121808 rs769481277 0.000byFreq missenseAThr [T]1528
contig referenceTSer [S]1528
1205389141806 rs775317055 0.000 missenseCPro [P]2527
contig referenceTLeu [L]2527
1205389161804 rs1302136409 N.D. missenseALeu [L]3526
contig referenceCPhe [F]3526
1205389231797 rs1392284755 N.D. missenseGArg [R]2524
contig referenceAHis [H]2524
1205389301790 rs1411762138 N.D. missenseGVal [V]1522
contig referenceAIle [I]1522
1205389431777 rs1174101721 N.D. synonymousALys [K]3517
contig referenceGLys [K]3517
1205389441776 rs141683322 0.000byCluster missenseGArg [R]2517
contig referenceALys [K]2517
1205389451775 rs1454149573 N.D. missenseGGlu [E]1517
contig referenceALys [K]1517
1205389591761 rs1470460636 N.D. missenseGArg [R]2512
contig referenceTLeu [L]2512
1205389601760 rs146212838 0.004byClusterbyFreqWith1000GenomeData0.0002 missenseGVal [V]1512
contig referenceCLeu [L]1512
1205389611759 rs1362777939 N.D. synonymousTAsp [D]3511
contig referenceCAsp [D]3511
1205389621758 rs774458076 0.000 missenseGGly [G]2511
contig referenceAAsp [D]2511
1205389641756 rs761880181 0.000 synonymousALeu [L]3510
contig referenceGLeu [L]3510
1205389651755 rs767833403 0.000 missenseCPro [P]2510
contig referenceTLeu [L]2510
1205389671753 rs750620687 0.000 missenseTHis [H]3509
contig referenceAGln [Q]3509
1205418101750 rs892152648 N.D. synonymousCIle [I]3508
contig referenceTIle [I]3508
1205418111749 rs772046290 0.000byFreq missenseCThr [T]2508
contig referenceTIle [I]2508
1205418171743 rs773299494 0.000 missenseTVal [V]2506
contig referenceGGly [G]2506
1205418181742 rs760827755 0.000 missenseAArg [R]1506
contig referenceGGly [G]1506
1205418191741 rs766600065 0.000 synonymousCAsp [D]3505
contig referenceTAsp [D]3505
1205418261734 rs891725502 N.D. missenseCAla [A]2503
contig referenceGGly [G]2503
1205418271733 rs148416297 0.000byClusterbyFreq missenseASer [S]1503
contig referenceGGly [G]1503
1205418311729 rs759974002 0.000 synonymousCPhe [F]3501
contig referenceTPhe [F]3501
1205418381722 rs889038919 N.D. missenseCSer [S]2499
contig referenceTLeu [L]2499
1205418431717 rs765902633 0.000byFreq synonymousALeu [L]3497
contig referenceGLeu [L]3497
1205418451715 rs371716468 0.000byClusterbyFreq missenseGVal [V]1497
contig referenceCLeu [L]1497
1205418461714 rs758899341 0.000 missenseTIle [I]3496
contig referenceGMet [M]3496
1205418541706 rs201389549 N.D.byClusterWith1000GenomeData missenseCLeu [L]1494
missenseGVal [V]1494
contig referenceAIle [I]1494
1205418641696 rs1402674772 N.D. synonymousCSer [S]3490
contig referenceASer [S]3490
1205418701690 rs780590534 0.000 missenseAIle [I]3488
contig referenceGMet [M]3488
1205418721688 rs749928049 0.000byFreq missenseGVal [V]1488
contig referenceAMet [M]1488
1205418781682 rs1305699751 N.D. missenseTPhe [F]1486
contig referenceCLeu [L]1486
1205418791681 rs1349484628 N.D. missenseTAsn [N]3485
contig referenceGLys [K]3485
1205418851675 rs1016118102 N.D. nonsenseA3483
contig referenceTTyr [Y]3483
1205418891671 rs373776394 0.000byClusterbyFreq missenseTLeu [L]2482
contig referenceCPro [P]2482
1205418931667 rs779679452 0.000 missenseCPro [P]1481
contig referenceTSer [S]1481
1205418951665 rs749144227 0.000 missenseCPro [P]2480
contig referenceAGln [Q]2480
1205418961664 rs367808278 0.000 missenseGGlu [E]1480
contig referenceCGln [Q]1480
1205418971663 rs768449455 0.000 missenseGMet [M]3479
contig referenceAIle [I]3479
1205418981662 rs1490667597 N.D. missenseCThr [T]2479
contig referenceTIle [I]2479
1205418991661 rs1224788278 N.D. missenseTLeu [L]1479
contig referenceAIle [I]1479
1205419011659 rs778609574 0.000 missenseCThr [T]2478
contig referenceTIle [I]2478
1205419021658 rs1437457674 N.D. missenseGVal [V]1478
contig referenceAIle [I]1478
1205419031657 rs1169640433 N.D. synonymousTThr [T]3477
contig referenceCThr [T]3477
1205419041656 rs748064595 0.000byFreq missenseTIle [I]2477
contig referenceCThr [T]2477
1205419061654 rs771993965 0.000byFreq missenseCAsn [N]3476
contig referenceGLys [K]3476
1205419071653 rs371616597 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseTMet [M]2476
contig referenceALys [K]2476
1205419081652 rs1162803854 N.D. missenseGGlu [E]1476
contig referenceALys [K]1476
1205419091651 rs760775871 0.000 synonymousGPro [P]3475
contig referenceCPro [P]3475
1205419111649 rs1360286153 N.D. missenseTSer [S]1475
contig referenceCPro [P]1475
1205419131647 rs1426541560 N.D. missenseATyr [Y]2474
contig referenceTPhe [F]2474
1205419161644 rs771346145 0.000byFreq missenseAAsp [D]2473
missenseTVal [V]2473
contig referenceCAla [A]2473
1205419191641 rs776979330 0.000 missenseTVal [V]2472
contig referenceGGly [G]2472
1205419221638 rs1369409773 N.D. missenseTVal [V]2471
contig referenceAGlu [E]2471
1205419231637 rs868799761 N.D.byCluster missenseALys [K]1471
contig referenceGGlu [E]1471
1205419251635 rs150562250 0.000byClusterWith1000GenomeData0.0002 missenseTLeu [L]2470
contig referenceAGln [Q]2470
1205419271633 rs1330503193 N.D. synonymousGPro [P]3469
contig referenceAPro [P]3469
1205419291631 rs1337863758 N.D. missenseTSer [S]1469
contig referenceCPro [P]1469
1205419331627 rs867786478 N.D.byCluster synonymousCThr [T]3467
contig referenceTThr [T]3467
1205419341626 rs1446236500 N.D. missenseTIle [I]2467
contig referenceCThr [T]2467
1205419351625 rs765729383 0.000byFreq missenseGAla [A]1467
contig referenceAThr [T]1467
1205419381622 rs1360777804 N.D. missenseGAla [A]1466
missenseTSer [S]1466
contig referenceAThr [T]1466
1205419411619 rs775949568 0.000 missenseGVal [V]1465
contig referenceAIle [I]1465
1205419531607 rs992577790 N.D. missenseGAsp [D]1461
contig referenceAAsn [N]1461
1205419551605 rs1025187281 N.D. missenseCAla [A]2460
contig referenceAGlu [E]2460
1205419581602 rs763421293 0.000 missenseGCys [C]2459
contig referenceATyr [Y]2459
1205419621598 rs1338836477 N.D. missenseAAsn [N]1458
contig referenceCHis [H]1458
1205419651595 rs753177920 0.000 frame shift-Tyr [Y]1457
contig referenceAIle [I]1457
1205419651595 rs969628949 N.D. missenseGVal [V]1457
contig referenceAIle [I]1457
1205419671593 rs764634717 0.000byFreq missenseTIle [I]2456
contig referenceCThr [T]2456
1205419701590 rs1198003001 N.D. missenseGTrp [W]2455
contig referenceTLeu [L]2455
1205419711589 rs1440947587 N.D. missenseGVal [V]1455
contig referenceTLeu [L]1455
1205419731587 rs142514563 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAHis [H]2454
contig referenceGArg [R]2454
1205419741586 rs375032501 0.000byClusterbyFreq missenseTCys [C]1454
contig referenceCArg [R]1454
1205419781582 rs541567345 0.000byFreqWith1000GenomeData0.0002 missenseTAsp [D]3452
synonymousAGlu [E]3452
contig referenceGGlu [E]3452
1205419791581 rs1346971645 N.D. frame shift-Gly [G]2452
contig referenceAGlu [E]2452
1205419801580 rs368200172 0.000byCluster missenseCGln [Q]1452
contig referenceGGlu [E]1452
1205419811579 rs936404671 N.D. synonymousAGln [Q]3451
contig referenceGGln [Q]3451
1205419891571 rs753490296 0.000byFreq missenseGGlu [E]1449
contig referenceALys [K]1449
1205419931567 rs1462079293 N.D. synonymousTThr [T]3447
contig referenceCThr [T]3447
1205419941566 rs972990785 N.D. missenseTIle [I]2447
contig referenceCThr [T]2447
1205419981562 rs987946871 N.D. missenseGGly [G]1446
contig referenceTCys [C]1446
1205487681553 rs758198750 0.000 missenseCArg [R]1443
contig referenceASer [S]1443
1205487751546 rs1264584066 N.D. synonymousCAla [A]3440
contig referenceTAla [A]3440
1205487761545 rs1413526061 N.D. missenseAAsp [D]2440
contig referenceCAla [A]2440
1205487791542 rs920477778 N.D. missenseCThr [T]2439
contig referenceTIle [I]2439
1205487811540 rs1199637852 N.D. synonymousTLeu [L]3438
contig referenceCLeu [L]3438
1205487831538 rs1430932323 N.D. missenseGVal [V]1438
contig referenceCLeu [L]1438
1205487861535 rs931729446 N.D. missenseALys [K]1437
contig referenceGGlu [E]1437
1205487881533 rs61762674 0.010byClusterbyFreqWith1000GenomeData0.0010 missenseTVal [V]2436
contig referenceCAla [A]2436
1205487961525 rs982797889 N.D. synonymousTHis [H]3433
contig referenceCHis [H]3433
1205487971524 rs746999114 0.000 missenseGArg [R]2433
contig referenceAHis [H]2433
1205488001521 rs1363591611 N.D. missenseATyr [Y]2432
contig referenceGCys [C]2432
1205488031518 rs757212699 0.000 missenseTVal [V]2431
contig referenceGGly [G]2431
1205488101511 rs781472720 0.000 missenseCLeu [L]1429
contig referenceGVal [V]1429
1205488131508 rs1461584935 N.D. missenseGVal [V]1428
contig referenceAIle [I]1428
1205488141507 rs369675242 N.D.byCluster synonymousTSer [S]3427
contig referenceCSer [S]3427
1205488251496 rs376545139 0.000byCluster missenseCArg [R]1424
contig referenceTTrp [W]1424
1205488291492 rs1233511204 N.D. synonymousTSer [S]3422
contig referenceCSer [S]3422
1205488301491 rs1404377367 N.D. missenseTPhe [F]2422
contig referenceCSer [S]2422
1205488321489 rs911380205 N.D. synonymousGLeu [L]3421
contig referenceCLeu [L]3421
1205488331488 rs373208447 0.000byClusterbyFreq missenseCPro [P]2421
contig referenceTLeu [L]2421
1205488341487 rs1347609720 N.D. missenseTPhe [F]1421
contig referenceCLeu [L]1421
1205488381483 rs775770688 0.000byFreq missenseCSer [S]3419
synonymousAArg [R]3419
contig referenceGArg [R]3419
1205488401481 rs1378572708 N.D. missenseGGly [G]1419
contig referenceAArg [R]1419
1205488411480 rs769073888 0.000 missenseAArg [R]3418
contig referenceCSer [S]3418
1205488451476 rs774535850 0.000 missenseGSer [S]2417
contig referenceCThr [T]2417
1205488461475 rs762326336 0.000 missenseGAla [A]1417
missenseTSer [S]1417
contig referenceAThr [T]1417
1205488541467 rs1263640308 N.D. missenseCThr [T]2414
contig referenceGArg [R]2414
1205488571464 rs764361263 0.000 missenseCSer [S]2413
contig referenceTPhe [F]2413
1205488591462 rs546161138 N.D.byCluster synonymousTLeu [L]3412
contig referenceCLeu [L]3412
1205488621459 rs1270481344 N.D. synonymousCHis [H]3411
contig referenceTHis [H]3411
1205488631458 rs776156441 0.000 missenseCPro [P]2411
contig referenceAHis [H]2411
1205488691452 rs1176284540 N.D. missenseTVal [V]2409
contig referenceAGlu [E]2409
1205488721449 rs759040938 0.000byClusterbyFreq missenseCThr [T]2408
contig referenceTIle [I]2408
1205488801441 rs764855445 0.000 synonymousAArg [R]3405
contig referenceGArg [R]3405
1205488821439 rs1380131739 N.D. synonymousCArg [R]1405
contig referenceAArg [R]1405
1205488871434 rs752407948 0.000 missenseCAla [A]2403
contig referenceGGly [G]2403
1205488911430 rs762447055 0.000 missenseGAla [A]1402
contig referenceAThr [T]1402
1205488931428 rs763971821 0.000byFreq missenseAGln [Q]2401
contig referenceGArg [R]2401
1205488941427 rs61752911 0.001byClusterbyFreq nonsenseT1401
missenseGGly [G]1401
synonymousAArg [R]1401
contig referenceCArg [R]1401
1205488951426 rs377444423 0.000byClusterbyFreq synonymousAThr [T]3400
contig referenceGThr [T]3400
1205488961425 rs199549031 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseALys [K]2400
missenseTMet [M]2400
contig referenceCThr [T]2400
1205488981423 rs756279078 0.000 synonymousTAla [A]3399
contig referenceAAla [A]3399
1205488991422 rs1373733915 N.D. missenseTVal [V]2399
contig referenceCAla [A]2399
1205489001421 rs373006836 N.D.byCluster missenseTSer [S]1399
contig referenceGAla [A]1399
1205489051416 rs779936049 0.000 missenseGCys [C]2397
contig referenceCSer [S]2397
1205489101411 rs1381925836 N.D. synonymousCAsp [D]3395
contig referenceTAsp [D]3395
1205489131408 rs201759508 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousCVal [V]3394
contig referenceGVal [V]3394
1205489151406 rs1332999627 N.D. missenseAMet [M]1394
contig referenceGVal [V]1394
1205489181403 rs768714966 0.000 missenseCArg [R]1393
contig referenceGGly [G]1393
1205489211400 rs779386567 0.000byFreq missenseTSer [S]1392
contig referenceGAla [A]1392
1205489221399 rs147938962 0.000byClusterbyFreq synonymousAGln [Q]3391
contig referenceGGln [Q]3391
1205489271394 rs772635723 0.000byFreq missenseAThr [T]1390
missenseTSer [S]1390
contig referenceCPro [P]1390
1205489281393 rs1481439450 N.D. synonymousGSer [S]3389
contig referenceASer [S]3389
1205489321389 rs773697841 0.000 missenseAGlu [E]2388
missenseTVal [V]2388
contig referenceGGly [G]2388
1205489331388 rs1054360843 N.D. nonsenseT1388
contig referenceGGly [G]1388
1205489341387 rs1444489676 N.D. missenseCAsn [N]3387
contig referenceGLys [K]3387
1205489381383 rs141740285 0.000byClusterbyFreq missenseAGlu [E]2386
contig referenceGGly [G]2386
1205489401381 rs1387114413 N.D. synonymousGPro [P]3385
contig referenceAPro [P]3385
1205489421379 rs370983314 0.000byCluster missenseTSer [S]1385
contig referenceCPro [P]1385
1205489431378 rs1220793306 N.D. synonymousCGly [G]3384
contig referenceTGly [G]3384
1205489491372 rs774814006 0.000byFreq synonymousCHis [H]3382
contig referenceTHis [H]3382
1205489511370 rs374593019 0.000byClusterbyFreq missenseGAsp [D]1382
missenseTTyr [Y]1382
contig referenceCHis [H]1382
1205489521369 rs751464905 0.000byFreq synonymousAVal [V]3381
synonymousTVal [V]3381
contig referenceCVal [V]3381
1205489541367 rs1248441182 N.D. missenseTPhe [F]1381
contig referenceGVal [V]1381
1205489581363 rs1334439193 N.D. missenseTSer [S]3379
contig referenceGArg [R]3379
1205750881360 rs561464293 0.000With1000GenomeData0.0002 synonymousGThr [T]3378
contig referenceCThr [T]3378
1205750911357 rs1325358736 N.D. synonymousTAla [A]3377
contig referenceCAla [A]3377
1205750981350 rs1003793300 N.D. missenseCPro [P]2375
contig referenceTLeu [L]2375
1205750991349 rs1268356294 N.D. missenseTPhe [F]1375
contig referenceCLeu [L]1375
1205751011347 rs776829908 0.000 frame shift-Leu [L]2374
contig referenceCPro [P]2374
1205751011347 rs1463911415 N.D. missenseAHis [H]2374
contig referenceCPro [P]2374
1205751021346 rs1355466142 N.D. missenseGAla [A]1374
contig referenceCPro [P]1374
1205751041344 rs1176356722 N.D. missenseTPhe [F]2373
contig referenceATyr [Y]2373
1205751051343 rs1201301872 N.D. missenseCHis [H]1373
contig referenceTTyr [Y]1373
1205751091339 rs116157159 0.010byClusterbyFreqWith1000GenomeData0.0126 synonymousTHis [H]3371
contig referenceCHis [H]3371
1205751141334 rs377365462 0.000byCluster missenseAIle [I]1370
contig referenceGVal [V]1370
1205751171331 rs747342268 0.000 missenseTSer [S]1369
contig referenceCPro [P]1369
1205751191329 rs145253773 0.000byClusterbyFreq missenseAAsn [N]2368
missenseCThr [T]2368
contig referenceGSer [S]2368
1205751231325 rs781535683 0.000 missenseCLeu [L]1367
contig referenceTPhe [F]1367
1205751251323 rs746326215 0.000 missenseTLeu [L]2366
contig referenceGTrp [W]2366
1205751261322 rs373881265 0.000byClusterbyFreq missenseCArg [R]1366
contig referenceTTrp [W]1366
1205751281320 rs1426099943 N.D. missenseGGly [G]2365
contig referenceCAla [A]2365
1205751291319 rs368125907 0.000byCluster missenseAThr [T]1365
contig referenceGAla [A]1365
1205751301318 rs372322110 0.000byClusterbyFreq synonymousGGlu [E]3364
contig referenceAGlu [E]3364
1205751401308 rs771832700 0.000byFreq missenseAGln [Q]2361
contig referenceGArg [R]2361
1205751411307 rs149155827 0.000byClusterbyFreq missenseTTrp [W]1361
contig referenceCArg [R]1361
1205751461302 rs760385622 0.000byFreq missenseALys [K]2359
missenseCThr [T]2359
contig referenceTMet [M]2359
1205751551293 rs776449114 0.000 missenseGCys [C]2356
contig referenceATyr [Y]2356
1205751571291 rs1291059822 N.D. synonymousTIle [I]3355
contig referenceCIle [I]3355
1205751581290 rs1360282484 N.D. missenseCThr [T]2355
contig referenceTIle [I]2355
1205751651283 rs1211817777 N.D. missenseGVal [V]1353
contig referenceCLeu [L]1353
1205751661282 rs1255128839 N.D. synonymousTAsp [D]3352
contig referenceCAsp [D]3352
1205751731275 rs1271109924 N.D. missenseTVal [V]2350
contig referenceAGlu [E]2350
1205751751273 rs1437511875 N.D. synonymousCThr [T]3349
synonymousGThr [T]3349
contig referenceTThr [T]3349
1205751761272 rs1182236730 N.D. missenseGSer [S]2349
contig referenceCThr [T]2349
1205751831265 rs1007717190 N.D. missenseAMet [M]1347
missenseTLeu [L]1347
contig referenceGVal [V]1347
1205751891259 rs1239845434 N.D. synonymousTLeu [L]1345
contig referenceCLeu [L]1345
1205751911257 rs143249644 0.000byClusterbyFreq missenseAAsp [D]2344
missenseTVal [V]2344
contig referenceCAla [A]2344
1205751941254 rs759672190 0.000byFreq frame shift-Gln [Q]2343
contig referenceCPro [P]2343
1205751951253 rs1224247384 N.D. missenseGAla [A]1343
contig referenceCPro [P]1343
1205751981250 rs765333713 0.000 missenseGGlu [E]1342
contig referenceALys [K]1342
1205752031245 rs1033914737 N.D. missenseGArg [R]2340
contig referenceAGln [Q]2340
1205752041244 rs752725496 0.000 missenseGGlu [E]1340
contig referenceCGln [Q]1340
1205752061242 rs868575731 N.D. missenseTIle [I]2339
contig referenceALys [K]2339
1205752071241 rs758659001 0.000 missenseCGln [Q]1339
missenseGGlu [E]1339
contig referenceALys [K]1339
1205752111237 rs1469356194 N.D. missenseGArg [R]3337
contig referenceCSer [S]3337
1205752151233 rs765487117 0.000 frame shift-Gly [G]2336
contig referenceAGlu [E]2336
1205752201228 rs752979349 0.000byFreq frame shift-Arg [R]3336
contig referenceAGlu [E]3336
1205752241224 rs1329884760 N.D. missenseGGly [G]2333
contig referenceTVal [V]2333
1206324451221 rs1347132894 N.D. frame shift-Arg [R]2332
contig referenceALys [K]2332
1206324501216 rs1303556762 N.D. synonymousGAla [A]3330
contig referenceAAla [A]3330
1206324511215 rs746616541 0.000byFreq missenseTVal [V]2330
contig referenceCAla [A]2330
1206324521214 rs148294004 0.000byClusterbyFreq missenseAThr [T]1330
contig referenceGAla [A]1330
1206324581208 rs1478524077 N.D. missenseCArg [R]1328
contig referenceTTrp [W]1328
1206324601206 rs1398375221 N.D. missenseTVal [V]2327
contig referenceGGly [G]2327
1206324641202 rs1316227881 N.D. missenseAIle [I]1326
contig referenceCLeu [L]1326
1206324691197 rs372825310 0.000byClusterbyFreq missenseALys [K]2324
contig referenceGArg [R]2324
1206324711195 rs974652326 N.D. missenseGMet [M]3323
contig referenceTIle [I]3323
1206324731193 rs759414482 0.000byFreq missenseGVal [V]1323
contig referenceAIle [I]1323
1206324741192 rs769687678 0.000 missenseCAsp [D]3322
contig referenceGGlu [E]3322
1206324751191 rs775612747 0.000byFreq missenseCAla [A]2322
contig referenceAGlu [E]2322
1206324781188 rs368696113 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2321
missenseCPro [P]2321
contig referenceGArg [R]2321
1206324791187 rs764101693 0.000byFreq nonsenseT1321
contig referenceCArg [R]1321
1206324861180 rs1484158806 N.D. synonymousCAla [A]3318
contig referenceTAla [A]3318
1206324881178 rs990920258 N.D. missenseTSer [S]1318
contig referenceGAla [A]1318
1206324901176 rs1203334280 N.D. missenseCThr [T]2317
contig referenceTIle [I]2317
1206324911175 rs751732617 0.000byFreq missenseCLeu [L]1317
missenseGVal [V]1317
contig referenceAIle [I]1317
1206324921174 rs1385973855 N.D. synonymousTGly [G]3316
contig referenceCGly [G]3316
1206324931173 rs762052318 0.000 missenseTVal [V]2316
contig referenceGGly [G]2316
1206324961170 rs767792223 0.000 missenseGArg [R]2315
contig referenceCThr [T]2315
1206325031163 rs543000111 0.000byFreqWith1000GenomeData0.0002 missenseCArg [R]1313
contig referenceGGly [G]1313
1206325101156 rs756728903 0.000byFreq synonymousAGlu [E]3310
contig referenceGGlu [E]3310
1206325151151 rs1176148563 N.D. synonymousCArg [R]1309
contig referenceAArg [R]1309
1206325161150 rs780706220 0.000 synonymousAVal [V]3308
synonymousTVal [V]3308
contig referenceCVal [V]3308
1206325181148 rs752317038 0.000 missenseTPhe [F]1308
contig referenceGVal [V]1308
1206325271139 rs757997721 0.000byFreq missenseCLeu [L]1305
contig referenceAIle [I]1305
1206325281138 rs1384293557 N.D. synonymousTVal [V]3304
contig referenceGVal [V]3304
1206325301136 rs777272125 0.000 missenseTLeu [L]1304
contig referenceGVal [V]1304
1206325321134 rs373258111 0.000byCluster missenseAGln [Q]2303
missenseCPro [P]2303
contig referenceGArg [R]2303
1206325351131 rs746672901 0.000 missenseTIle [I]2302
contig referenceCThr [T]2302
1206325411125 rs200870227 0.000byClusterWith1000GenomeData0.0002 missenseGArg [R]2300
contig referenceTLeu [L]2300
1206325421124 rs1283609571 N.D. frame shift-Cys [C]1300
contig referenceCLeu [L]1300
1206325431123 rs1404573465 N.D. missenseAGlu [E]3299
contig referenceCAsp [D]3299
1206325451121 rs1280099402 N.D. missenseAAsn [N]1299
contig referenceGAsp [D]1299
1206325481118 rs1283626322 N.D. missenseTTyr [Y]1298
contig referenceAAsn [N]1298
1206325511115 rs549838114 0.000byCluster missenseAIle [I]1297
contig referenceGVal [V]1297
1206325521114 rs780898987 0.000byFreq synonymousTAsn [N]3296
contig referenceCAsn [N]3296
1206325531113 rs1260039504 N.D. missenseGSer [S]2296
contig referenceAAsn [N]2296
1206325571109 rs1044712693 N.D. missenseGAla [A]1295
contig referenceTSer [S]1295
1206325611105 rs1277686564 N.D. missenseGMet [M]3293
contig referenceCIle [I]3293
1206325731093 rs576180790 0.000With1000GenomeData0.0002 nonsenseA3289
contig referenceGTrp [W]3289
1206325761090 rs745671985 0.000 synonymousGAla [A]3288
contig referenceAAla [A]3288
1206325771089 rs199924843 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGGly [G]2288
missenseTVal [V]2288
contig referenceCAla [A]2288
1206325851081 rs141153098 0.001byClusterbyFreqWith1000GenomeData0.0016 YessynonymousAThr [T]3285
contig referenceGThr [T]3285
1206325861080 rs1199714246 N.D. missenseTMet [M]2285
contig referenceCThr [T]2285
1206325941072 rs1268433269 N.D. synonymousTAsp [D]3282
contig referenceCAsp [D]3282
1206325961070 rs1000755696 N.D. missenseCHis [H]1282
contig referenceGAsp [D]1282
1206325991067 rs1435308205 N.D. missenseGGlu [E]1281
contig referenceALys [K]1281
1206326001066 rs1180171661 N.D. missenseAArg [R]3280
contig referenceCSer [S]3280
1206326011065 rs768752496 0.000 missenseAAsn [N]2280
contig referenceGSer [S]2280
1206326081058 rs1052296693 N.D. synonymousTLeu [L]1278
contig referenceCLeu [L]1278
1206326091057 rs1418861822 N.D. missenseGMet [M]3277
contig referenceCIle [I]3277
1206326111055 rs774437774 0.000byFreq missenseCLeu [L]1277
contig referenceAIle [I]1277
1206326141052 rs532501678 0.000byFreqWith1000GenomeData0.0002 missenseAMet [M]1276
missenseCLeu [L]1276
contig referenceGVal [V]1276
1206326151051 rs778339106 N.D. synonymousAThr [T]3275
contig referenceGThr [T]3275
1206326161050 rs547745148 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]2275
missenseGArg [R]2275
missenseTMet [M]2275
contig referenceCThr [T]2275
1206326211045 rs1294375818 N.D. synonymousALys [K]3273
contig referenceGLys [K]3273
1206326271039 rs1370057448 N.D. synonymousCAsp [D]3271
contig referenceTAsp [D]3271
1206326301036 rs1462550953 N.D. synonymousGPro [P]3270
contig referenceAPro [P]3270
1206326321034 rs1389437455 N.D. missenseTSer [S]1270
contig referenceCPro [P]1270
1206326351031 rs761111185 0.000 missenseCPro [P]1269
contig referenceTSer [S]1269
1206326361030 rs766794755 0.000byClusterbyFreq missenseGGln [Q]3268
contig referenceCHis [H]3268
1206326371029 rs754402269 0.000 missenseGArg [R]2268
contig referenceAHis [H]2268
1206326401026 rs755503856 0.000 missenseAAsn [N]2267
contig referenceTIle [I]2267
1206326441022 rs777170773 0.000byFreq missenseALys [K]1266
contig referenceGGlu [E]1266
1206326501016 rs751059207 0.000 missenseALys [K]1264
contig referenceCGln [Q]1264
1206326511015 rs1222719330 N.D. synonymousAArg [R]3263
contig referenceGArg [R]3263
1206936941012 rs754934110 0.000 missenseGLys [K]3262
contig referenceCAsn [N]3262
1206936971009 rs144874809 0.000byClusterbyFreq YesmissenseCAsp [D]3261
synonymousAGlu [E]3261
contig referenceGGlu [E]3261
1206937001006 rs1485717441 N.D. synonymousCPro [P]3260
contig referenceTPro [P]3260
1206937051001 rs772200241 0.000byFreq missenseAAsn [N]1259
missenseCHis [H]1259
contig referenceGAsp [D]1259
1206937061000 rs747259669 0.000byFreq synonymousTAla [A]3258
contig referenceCAla [A]3258
120693708998 rs138723707 0.000byCluster YesmissenseAThr [T]1258
missenseCPro [P]1258
missenseTSer [S]1258
contig referenceGAla [A]1258
120693711995 rs1315709729 N.D. missenseGVal [V]1257
contig referenceTLeu [L]1257
120693715991 rs960026709 N.D. missenseAIle [I]3255
contig referenceGMet [M]3255
120693716990 rs777177247 0.000 missenseCThr [T]2255
missenseGArg [R]2255
contig referenceTMet [M]2255
120693717989 rs1286833009 N.D. missenseGVal [V]1255
contig referenceAMet [M]1255
120693721985 rs200491684 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAArg [R]3253
contig referenceGArg [R]3253
120693722984 rs141748844 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2253
contig referenceGArg [R]2253
120693723983 rs375913214 0.001byClusterbyFreqWith1000GenomeData0.0012 YesmissenseGGly [G]1253
missenseTTrp [W]1253
contig referenceCArg [R]1253
120693729977 rs150760552 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAIle [I]1251
contig referenceGVal [V]1251
120693731975 rs1437543800 N.D. missenseGCys [C]2250
contig referenceATyr [Y]2250
120693732974 rs368590662 0.000 YesmissenseCHis [H]1250
contig referenceTTyr [Y]1250
120693735971 rs1192759572 N.D. missenseCArg [R]1249
contig referenceTCys [C]1249
120693744962 rs749909996 0.000 missenseTPhe [F]1246
contig referenceCLeu [L]1246
120693744962 rs763358257 0.000 frame shift-Ser [S]1246
contig referenceCLeu [L]1246
120693753953 rs76071365 0.000byFreqWith1000GenomeData0.0004 YesmissenseGGly [G]1243
contig referenceASer [S]1243
120693758948 rs766007543 0.000 missenseAGln [Q]2241
contig referenceGArg [R]2241
120693759947 rs753694409 0.000byFreq missenseTTrp [W]1241
contig referenceCArg [R]1241
120693764942 rs1376229522 N.D. missenseCThr [T]2239
contig referenceGArg [R]2239
120693765941 rs1422306487 N.D. missenseGGly [G]1239
contig referenceAArg [R]1239
120693767939 rs371508748 0.000byCluster YesmissenseCPro [P]2238
missenseGArg [R]2238
contig referenceAHis [H]2238
120693771935 rs137989371 0.000byCluster YesmissenseAIle [I]1237
contig referenceTPhe [F]1237
120693771933 rs1286836854 N.D. -2236
120693772933 rs764581078 0.000 frame shiftTCPro [P]2237
contig reference-Phe [F]2237
120693773933 rs778508015 0.000 missenseGCys [C]2236
contig referenceCSer [S]2236
120693774932 rs752714719 0.000 missenseCPro [P]1236
contig referenceTSer [S]1236
120693778916 rs1393729766 N.D. frame shift-Pro [P]3232
contig reference(13bp)Ser [S]3232
120693784922 rs758220895 0.000byFreq synonymousASer [S]3232
contig referenceGSer [S]3232
120693785921 rs1467761500 N.D. missenseTLeu [L]2232
contig referenceCSer [S]2232
120693789917 rs752077884 0.000 frame shift-His [H]1231
contig referenceTSer [S]1231
120693789917 rs1301238970 N.D. missenseCPro [P]1231
contig referenceTSer [S]1231
120693790915 rs762352897 0.000byClusterbyFreq frame shiftCVal [V]2231
contig reference-Ser [S]2231
120693790916 rs988540334 N.D. synonymousAPro [P]3230
contig referenceGPro [P]3230
120693791915 rs780546773 0.000byFreq missenseGArg [R]2230
missenseTLeu [L]2230
contig referenceCPro [P]2230
120693791915 rs1386244763 N.D. frame shift-Arg [R]2230
contig referenceCPro [P]2230
120693792914 rs374892259 0.000byClusterbyFreq YesmissenseAThr [T]1230
contig referenceCPro [P]1230
120693793913 rs1310012304 N.D. synonymousTPro [P]3229
contig referenceCPro [P]3229
120693795911 rs143887054 0.000byClusterbyFreq YesmissenseTSer [S]1229
contig referenceCPro [P]1229
120693796910 rs58509927 0.013byClusterbyFreqWith1000GenomeData0.0246 YesmissenseAGlu [E]3228
missenseAGlu [E]3228
missenseGGlu [E]3228
missenseGGlu [E]3228
contig referenceCAsp [D]3228
contig referenceCAsp [D]3228
120693800906 rs755439088 N.D. nonsenseG2227
contig referenceCSer [S]2227
120693803903 rs775666986 0.000byFreq missenseTIle [I]2226
contig referenceCThr [T]2226
120693804902 rs941234696 N.D. missenseTSer [S]1226
contig referenceAThr [T]1226
120693805901 rs763561800 0.000byFreq missenseAArg [R]3225
contig referenceCSer [S]3225
120693809897 rs769118341 0.000 missenseAAsp [D]2224
contig referenceGGly [G]2224
120693812894 rs772772455 0.000byFreq missenseAGlu [E]2223
missenseTVal [V]2223
contig referenceGGly [G]2223
120693818888 rs765821022 0.000 missenseTLeu [L]2221
contig referenceGArg [R]2221
120693819887 rs373190531 0.000byCluster YesmissenseTTrp [W]1221
contig referenceCArg [R]1221
120693821885 rs1264424921 N.D. frame shift-Leu [L]2220
contig referenceCPro [P]2220
120693822884 rs144965371 0.000byClusterbyFreq YesmissenseTSer [S]1220
contig referenceCPro [P]1220
120693824882 rs376360327 0.000byClusterbyFreq YesmissenseATyr [Y]2219
contig referenceCSer [S]2219
120693830876 rs1199225803 N.D. missenseTLeu [L]2217
contig referenceCPro [P]2217
120693832874 rs1390985019 N.D. synonymousAPro [P]3216
contig referenceGPro [P]3216
120693833873 rs752413892 0.000byFreq missenseTLeu [L]2216
contig referenceCPro [P]2216
120693836870 rs758401603 0.000 missenseTLeu [L]2215
contig referenceCPro [P]2215
120693838867 rs1318352581 N.D. frame shiftGThr [T]2215
contig reference-Pro [P]2215
120693839867 rs1026394669 N.D. missenseALys [K]2214
contig referenceCThr [T]2214
120693850856 rs1239856478 N.D. missenseGMet [M]3210
contig referenceTIle [I]3210
120693852854 rs1353147202 N.D. missenseGVal [V]1210
contig referenceAIle [I]1210
120693855851 rs745686062 0.000byClusterbyFreq missenseALys [K]1209
contig referenceGGlu [E]1209
120693858848 rs1310593214 N.D. missenseGAla [A]1208
contig referenceTSer [S]1208
120693860846 rs751483371 0.000byFreq missenseCAla [A]2207
contig referenceTVal [V]2207
120693864842 rs201154867 0.000byClusterWith1000GenomeData0.0002 YesmissenseTSer [S]1206
contig referenceCPro [P]1206
120693867839 rs757416581 0.000 missenseAThr [T]1205
missenseCPro [P]1205
contig referenceTSer [S]1205
120693869837 rs781378881 0.000 missenseCAla [A]2204
missenseTVal [V]2204
contig referenceGGly [G]2204
120693870836 rs147535244 0.000byClusterbyFreq YesmissenseCArg [R]1204
contig referenceGGly [G]1204
120693871835 rs1230250770 N.D. missenseCAsn [N]3203
contig referenceALys [K]3203
120693872834 rs1022900676 N.D. missenseTIle [I]2203
contig referenceALys [K]2203
120693873833 rs970300045 N.D. nonsenseT1203
contig referenceALys [K]1203
120693877829 rs140148929 0.000byClusterbyFreq YessynonymousAVal [V]3201
contig referenceGVal [V]3201
120693878828 rs1395451834 N.D. missenseCAla [A]2201
contig referenceTVal [V]2201
120693879827 rs780505019 0.000byFreq missenseAMet [M]1201
contig referenceGVal [V]1201
120693880826 rs1422966535 N.D. synonymousCTyr [Y]3200
contig referenceTTyr [Y]3200
120693881825 rs576739422 0.000byFreqWith1000GenomeData0.0002 missenseGCys [C]2200
contig referenceATyr [Y]2200
120693886820 rs1164263344 N.D. synonymousAThr [T]3198
contig referenceGThr [T]3198
120693887819 rs1239910440 N.D. missenseALys [K]2198
missenseTMet [M]2198
contig referenceCThr [T]2198
120693896810 rs769206199 0.000 missenseAGln [Q]2195
contig referenceGArg [R]2195
120693897809 rs774856029 0.000byFreq missenseGGly [G]1195
contig referenceCArg [R]1195
120693902804 rs989002534 N.D. missenseGCys [C]2193
contig referenceATyr [Y]2193
120693907799 rs1195781365 N.D. synonymousAVal [V]3191
contig referenceGVal [V]3191
120811274796 rs1488382336 N.D. synonymousGGlu [E]3190
contig referenceAGlu [E]3190
120811279791 rs960446611 N.D. missenseGVal [V]1189
contig referenceCLeu [L]1189
120811287782 rs34175871 N.D. Yesframe shiftTVal [V]1186
contig reference-Glu [E]1186
120811288782 rs766418325 0.000byFreq missenseALys [K]1186
contig referenceGGlu [E]1186
120811293777 rs749884851 0.000 frame shift-Ala [A]2184
contig referenceGGly [G]2184
120811294776 rs1431770403 N.D. missenseCArg [R]1184
contig referenceGGly [G]1184
120811295775 rs1364064222 N.D. synonymousTAla [A]3183
contig referenceGAla [A]3183
120811298772 rs754041632 0.000 synonymousTArg [R]3182
contig referenceCArg [R]3182
120811300770 rs1380944898 N.D. missenseTCys [C]1182
contig referenceCArg [R]1182
120811301769 rs1378704500 N.D. synonymousALys [K]3181
contig referenceGLys [K]3181
120811305765 rs1468087665 N.D. missenseCSer [S]2180
contig referenceTLeu [L]2180
120811306764 rs1156857168 N.D. synonymousCLeu [L]1180
contig referenceTLeu [L]1180
120811316754 rs373866912 0.000byClusterbyFreq YessynonymousAAla [A]3176
contig referenceGAla [A]3176
120811317753 rs1420496682 N.D. missenseAGlu [E]2176
contig referenceCAla [A]2176
120811320750 rs549752541 0.000byFreqWith1000GenomeData0.0002 missenseTVal [V]2175
contig referenceAGlu [E]2175
120811321749 rs748481413 0.000 missenseALys [K]1175
missenseCGln [Q]1175
contig referenceGGlu [E]1175
120811322748 rs758971490 0.000 missenseGGlu [E]3174
contig referenceCAsp [D]3174
120811324746 rs1301805919 N.D. missenseCHis [H]1174
contig referenceGAsp [D]1174
120811325745 rs1165602571 N.D. missenseGGln [Q]3173
contig referenceCHis [H]3173
120811329741 rs778131866 0.000 missenseTIle [I]2172
contig referenceCThr [T]2172
120811333737 rs377564521 0.000byClusterbyFreq YesmissenseAThr [T]1171
contig referenceGAla [A]1171
120811334736 rs145573772 0.000byCluster YesmissenseAGlu [E]3170
contig referenceCAsp [D]3170
120811336734 rs775013885 0.000byFreq missenseAAsn [N]1170
missenseTTyr [Y]1170
contig referenceGAsp [D]1170
120811337733 rs867017731 N.D.byCluster synonymousAArg [R]3169
contig referenceGArg [R]3169
120811342728 rs926201375 N.D. synonymousTLeu [L]1168
contig referenceCLeu [L]1168
120811345725 rs201764994 0.000byCluster YesmissenseAAsn [N]1167
missenseTTyr [Y]1167
contig referenceGAsp [D]1167
120811346724 rs370898633 0.000byCluster YessynonymousGAla [A]3166
synonymousTAla [A]3166
contig referenceCAla [A]3166
120811347723 rs774350649 0.000 missenseAAsp [D]2166
contig referenceCAla [A]2166
120811349721 rs1219209001 N.D. synonymousCGly [G]3165
contig referenceAGly [G]3165
120811350720 rs761683255 0.000byFreq missenseAGlu [E]2165
missenseCAla [A]2165
contig referenceGGly [G]2165
120811351719 rs200089872 0.000byClusterbyFreq YesnonsenseT1165
missenseCArg [R]1165
contig referenceGGly [G]1165
120811352718 rs151082415 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTAsn [N]3164
contig referenceCAsn [N]3164
120811358712 rs1440374977 N.D. synonymousASer [S]3162
contig referenceCSer [S]3162
120811359711 rs1222673090 N.D. missenseGCys [C]2162
contig referenceCSer [S]2162
120811361709 rs1160594468 N.D. synonymousALeu [L]3161
synonymousCLeu [L]3161
contig referenceGLeu [L]3161
120811363707 rs200138248 0.000byClusterbyFreq YessynonymousTLeu [L]1161
contig referenceCLeu [L]1161
120811364706 rs759797399 0.000 synonymousTIle [I]3160
contig referenceCIle [I]3160
120811365705 rs765442189 0.000 missenseCThr [T]2160
contig referenceTIle [I]2160
120811367703 rs1392649640 N.D. synonymousTAla [A]3159
contig referenceCAla [A]3159
120811369701 rs753118124 0.000 missenseAThr [T]1159
missenseTSer [S]1159
contig referenceGAla [A]1159
120811371699 rs758705188 0.000 missenseGGly [G]2158
contig referenceAAsp [D]2158
120811372698 rs866729656 N.D.byCluster missenseAAsn [N]1158
contig referenceGAsp [D]1158
120811373697 rs755594964 0.000 frame shift-Thr [T]3158
contig referenceCAsp [D]3158
120811373697 rs1296769589 N.D. synonymousTGly [G]3157
contig referenceCGly [G]3157
120811374696 rs778158819 0.000byFreq missenseAAsp [D]2157
contig referenceGGly [G]2157
120811379691 rs752027501 0.000byFreq synonymousTTyr [Y]3155
contig referenceCTyr [Y]3155
120811386684 rs1320668794 N.D. missenseTVal [V]2153
contig referenceCAla [A]2153
120811394676 rs1245083602 N.D. missenseCHis [H]3150
contig referenceGGln [Q]3150
120811396674 rs757759609 0.000 missenseGGlu [E]1150
contig referenceCGln [Q]1150
120811399671 rs199623485 0.000byClusterWith1000GenomeData0.0002 YesmissenseTTyr [Y]1149
contig referenceGAsp [D]1149
120811401669 rs1197199252 N.D. missenseTVal [V]2148
contig referenceCAla [A]2148
120811404666 rs748799055 0.000byFreq missenseTVal [V]2147
contig referenceCAla [A]2147
120811407663 rs1458659172 N.D. missenseCPro [P]2146
contig referenceTLeu [L]2146
120811409661 rs1180517693 N.D. synonymousAGly [G]3145
contig referenceGGly [G]3145
120811410660 rs768476666 0.000 missenseAGlu [E]2145
contig referenceGGly [G]2145
120811411659 rs1305024539 N.D. missenseAArg [R]1145
contig referenceGGly [G]1145
120811413657 rs1423418827 N.D. missenseGArg [R]2144
contig referenceALys [K]2144
120811414656 rs778719458 0.000 missenseGGlu [E]1144
contig referenceALys [K]1144
120811417653 rs747733490 0.000 missenseGVal [V]1143
contig referenceTPhe [F]1143
120811420650 rs551704349 0.000With1000GenomeData0.0002 missenseGVal [V]1142
contig referenceAIle [I]1142
120811421649 rs1463843636 N.D. missenseTAsn [N]3141
contig referenceGLys [K]3141
120811426644 rs1169766499 N.D. missenseGGly [G]1140
contig referenceASer [S]1140
120811427643 rs773014097 0.000 synonymousTIle [I]3139
contig referenceCIle [I]3139
120811430640 rs141005737 0.000byCluster YessynonymousTLeu [L]3138
contig referenceCLeu [L]3138
120811432638 rs1300505506 N.D. missenseTPhe [F]1138
contig referenceCLeu [L]1138
120811436634 rs770873760 0.000 synonymousTPro [P]3136
contig referenceCPro [P]3136
120811438632 rs1043606375 N.D. missenseGAla [A]1136
missenseTSer [S]1136
contig referenceCPro [P]1136
120811439631 rs201880171 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAIle [I]3135
contig referenceGMet [M]3135
120811440630 rs759598968 0.000 missenseCThr [T]2135
contig referenceTMet [M]2135
120811441629 rs368367755 0.000byCluster YesmissenseGVal [V]1135
contig referenceAMet [M]1135
120811442628 rs752921848 0.000 synonymousALys [K]3134
contig referenceGLys [K]3134
120811444626 rs763184375 0.000 missenseGGlu [E]1134
contig referenceALys [K]1134
120811447623 rs1319145966 N.D. missenseCHis [H]1133
contig referenceAAsn [N]1133
120811448620 rs1189698351 N.D. -1132
120811453617 rs764412862 0.000 missenseGGlu [E]1131
contig referenceALys [K]1131
120811455615 rs1197960077 N.D. missenseAAsp [D]2130
contig referenceGGly [G]2130
120811457613 rs751920445 0.000 synonymousAGly [G]3129
contig referenceGGly [G]3129
120811458612 rs757771004 0.000 missenseCAla [A]2129
contig referenceGGly [G]2129
120811459611 rs200773638 0.000byCluster YesmissenseAArg [R]1129
missenseCArg [R]1129
missenseTTrp [W]1129
contig referenceGGly [G]1129
120811463607 rs1258511683 N.D. missenseGMet [M]3127
synonymousTIle [I]3127
contig referenceCIle [I]3127
120811465605 rs1477000955 N.D. missenseCLeu [L]1127
contig referenceAIle [I]1127
120811471599 rs750898299 0.000byFreq missenseCLeu [L]1125
missenseGVal [V]1125
missenseTPhe [F]1125
contig referenceAIle [I]1125
120811475595 rs1424086968 N.D. synonymousALeu [L]3123
contig referenceGLeu [L]3123
120811477593 rs778523471 0.000 synonymousTLeu [L]1123
contig referenceCLeu [L]1123
120811478592 rs747781941 0.000 synonymousAGly [G]3122
synonymousCGly [G]3122
contig referenceGGly [G]3122
120811483587 rs771736255 0.000byFreq missenseCArg [R]1121
contig referenceGGly [G]1121
120811487583 rs1466093985 N.D. missenseCAsp [D]3119
contig referenceGGlu [E]3119
120811489581 rs746819066 0.000 missenseCGln [Q]1119
contig referenceGGlu [E]1119
120811493577 rs1337875626 N.D. synonymousALys [K]3117
contig referenceGLys [K]3117
120811500570 rs770832371 0.000 missenseAGlu [E]2115
contig referenceTVal [V]2115
120811501569 rs1172966461 N.D. missenseAMet [M]1115
contig referenceGVal [V]1115
120811502568 rs776562910 0.000 synonymousALys [K]3114
contig referenceGLys [K]3114
120811505565 rs1341559810 N.D. synonymousTVal [V]3113
contig referenceGVal [V]3113
120811506564 rs1421531249 N.D. missenseCAla [A]2113
contig referenceTVal [V]2113
120811509561 rs934019107 N.D. missenseAAsp [D]2112
contig referenceGGly [G]2112
120811512558 rs745740783 0.000 missenseAHis [H]2111
contig referenceGArg [R]2111
120811513557 rs769895413 0.000byFreq missenseGGly [G]1111
missenseTCys [C]1111
contig referenceCArg [R]1111
120811517553 rs763124379 0.000 missenseTHis [H]3109
contig referenceGGln [Q]3109
120811523547 rs139846471 0.002byClusterbyFreqWith1000GenomeData0.0038 YessynonymousASer [S]3107
synonymousCSer [S]3107
synonymousTSer [S]3107
contig referenceGSer [S]3107
120811533537 rs911340178 N.D. missenseGGly [G]2104
contig referenceAGlu [E]2104
120811537533 rs996665812 N.D. missenseTSer [S]1103
contig referenceCPro [P]1103
120811538532 rs767924582 0.000byFreq synonymousTVal [V]3102
contig referenceGVal [V]3102
120811540530 rs1487396830 N.D. missenseTLeu [L]1102
contig referenceGVal [V]1102
120811541529 rs750995345 0.000byFreq synonymousAGln [Q]3101
contig referenceGGln [Q]3101
120811543527 rs1223346947 N.D. nonsenseT1101
contig referenceCGln [Q]1101
120811545525 rs1263579169 N.D. missenseCAla [A]2100
missenseGGly [G]2100
contig referenceAGlu [E]2100
120811546524 rs756642925 0.000 missenseALys [K]1100
missenseCGln [Q]1100
contig referenceGGlu [E]1100
120811547523 rs1285677191 N.D. synonymousGPro [P]399
contig referenceCPro [P]399
120811548522 rs1406092621 N.D. missenseTLeu [L]299
contig referenceCPro [P]299
120811549521 rs1189312118 N.D. missenseTSer [S]199
contig referenceCPro [P]199
120811551519 rs1424369452 N.D. missenseCPro [P]298
contig referenceTLeu [L]298
120811552518 rs764891872 0.000 synonymousTLeu [L]198
contig referenceCLeu [L]198
120811554516 rs752224340 0.000 missenseCAla [A]297
missenseTVal [V]297
contig referenceAAsp [D]297
120811555515 rs1004323411 N.D. missenseAAsn [N]197
missenseCHis [H]197
contig referenceGAsp [D]197
120811560510 rs1015203847 N.D. missenseCSer [S]295
contig referenceTPhe [F]295
120811564506 rs1298402055 N.D. missenseAThr [T]194
contig referenceGAla [A]194
120811565505 rs1397570185 N.D. synonymousAThr [T]393
contig referenceCThr [T]393
120811568502 rs1362114809 N.D. synonymousTArg [R]392
contig referenceCArg [R]392
120811569501 rs758057202 0.000byFreq missenseTLeu [L]292
contig referenceGArg [R]292
120811570500 rs777469226 0.000 missenseTCys [C]192
contig referenceCArg [R]192
120811571499 rs1367434418 N.D. synonymousGVal [V]391
contig referenceCVal [V]391
120811573497 rs746584945 0.000 missenseAIle [I]191
missenseCLeu [L]191
missenseTPhe [F]191
contig referenceGVal [V]191
120811574496 rs1305657562 N.D. synonymousCGly [G]390
contig referenceGGly [G]390
120811575495 rs995198157 N.D. missenseCAla [A]290
contig referenceGGly [G]290
120811576494 rs757052169 0.000 missenseTTrp [W]190
contig referenceGGly [G]190
120811578492 rs1216035423 N.D. missenseTVal [V]289
contig referenceCAla [A]289
120811584486 rs866095482 N.D. missenseTLeu [L]287
contig referenceCSer [S]287
120811588482 rs780926593 0.000 missenseAAsn [N]186
missenseCHis [H]186
contig referenceGAsp [D]186
120811590480 rs1219030022 N.D. missenseTLeu [L]285
contig referenceCPro [P]285
120811590480 rs1449024992 N.D. frame shift-Arg [R]285
contig referenceCPro [P]285
120811592478 rs769685818 0.000 synonymousGPro [P]384
contig referenceCPro [P]384
120811594476 rs1488739765 N.D. missenseAThr [T]184
contig referenceCPro [P]184
120811596474 rs1183406246 N.D. frame shift-Arg [R]283
contig referenceAGln [Q]283
120811597473 rs1192884939 N.D. nonsenseT183
contig referenceCGln [Q]183
120811598472 rs1378452165 N.D. synonymousAAla [A]382
contig referenceGAla [A]382
120811599471 rs377398729 0.000byClusterbyFreq YesmissenseAGlu [E]282
missenseGGly [G]282
missenseTVal [V]282
contig referenceCAla [A]282
120811601469 rs1158781897 N.D. synonymousTGly [G]381
contig referenceCGly [G]381
120811602468 rs768557162 0.000 missenseAAsp [D]281
missenseCAla [A]281
missenseTVal [V]281
contig referenceGGly [G]281
120811605465 rs370781989 0.000byClusterbyFreq YesmissenseAAsp [D]280
missenseCAla [A]280
missenseTVal [V]280
contig referenceGGly [G]280
120811606464 rs1321921486 N.D. missenseASer [S]180
missenseCArg [R]180
contig referenceGGly [G]180
120811607463 rs761897625 0.000 synonymousCAla [A]379
contig referenceGAla [A]379
120811608462 rs201940243 0.008byClusterbyFreqWith1000GenomeData0.0020 YesmissenseTVal [V]279
contig referenceCAla [A]279
120811609461 rs988169659 N.D. missenseAThr [T]179
contig referenceGAla [A]179
120811610460 rs200132515 0.001byClusterbyFreq YessynonymousAGly [G]378
synonymousTGly [G]378
contig referenceCGly [G]378
120811611459 rs1239512914 N.D. missenseAAsp [D]278
contig referenceGGly [G]278
120811612458 rs761307311 0.000 missenseASer [S]178
contig referenceGGly [G]178
120811613457 rs1023321862 N.D. synonymousCPro [P]377
contig referenceGPro [P]377
120811614456 rs766992193 0.000byFreq missenseAGln [Q]277
missenseGArg [R]277
missenseTLeu [L]277
contig referenceCPro [P]277
120811614456 rs1353045954 N.D. frame shift-Arg [R]277
contig referenceCPro [P]277
120811616454 rs1288834652 N.D. missenseAGln [Q]376
synonymousTHis [H]376
contig referenceCHis [H]376
120811617453 rs752211343 0.000 missenseCPro [P]276
contig referenceAHis [H]276
120811619451 rs1215390887 N.D. synonymousAGly [G]375
contig referenceGGly [G]375
120811620450 rs1236268992 N.D. missenseAGlu [E]275
contig referenceGGly [G]275
120811622448 rs1488761245 N.D. synonymousCAla [A]374
contig referenceTAla [A]374
120811624446 rs1457310842 N.D. missenseTSer [S]174
contig referenceGAla [A]174
120811625445 rs757939374 0.000byFreq synonymousAGly [G]373
contig referenceGGly [G]373
120811626444 rs1234126986 N.D. missenseCAla [A]273
contig referenceGGly [G]273
120811627443 rs763446005 0.000 missenseAArg [R]173
missenseCArg [R]173
missenseTTrp [W]173
contig referenceGGly [G]173
120811628442 rs751257461 0.000 synonymousGAla [A]372
synonymousTAla [A]372
contig referenceCAla [A]372
120811630440 rs1414118721 N.D. missenseTSer [S]172
contig referenceGAla [A]172
120811632438 rs1181324725 N.D. missenseAAsp [D]271
contig referenceGGly [G]271
120811635435 rs145732083 0.001byClusterbyFreqWith1000GenomeData0.0008 YesmissenseALys [K]270
contig referenceGArg [R]270
120811636434 rs1261192367 N.D. synonymousCArg [R]170
contig referenceAArg [R]170
120811638432 rs781002458 0.000 missenseATyr [Y]269
contig referenceGCys [C]269
120811640430 rs745657110 0.000byFreq missenseGLeu [L]368
synonymousTPhe [F]368
contig referenceCPhe [F]368
120811641429 rs1446715726 N.D. missenseCSer [S]268
contig referenceTPhe [F]268
120811644426 rs1332069586 N.D. missenseGTrp [W]267
contig referenceCSer [S]267
120811646424 rs140508976 0.000byCluster YessynonymousTGly [G]366
contig referenceCGly [G]366
120811646415 rs1446919401 N.D. frame shift-Arg [R]364
contig reference(10bp)Thr [T]364
120811647423 rs1445967425 N.D. missenseTVal [V]266
contig referenceGGly [G]266
120811649421 rs749110082 0.000 synonymousCAsn [N]365
contig referenceTAsn [N]365
120811650420 rs768810109 0.000byFreq missenseGSer [S]265
contig referenceAAsn [N]265
120811652418 rs778806699 0.000 synonymousAThr [T]364
contig referenceCThr [T]364
120811656414 rs1255920366 N.D. missenseGGly [G]263
contig referenceCAla [A]263
120811659411 rs748433092 0.000 missenseTIle [I]262
contig referenceCThr [T]262
120811660410 rs772395891 0.000 missenseTSer [S]162
contig referenceAThr [T]162
120811661409 rs1351444834 N.D. synonymousAGly [G]361
contig referenceGGly [G]361
120811662408 rs773782520 0.000byFreq missenseAGlu [E]261
contig referenceGGly [G]261
120811663407 rs761112853 0.000 missenseCArg [R]161
contig referenceGGly [G]161
120811664406 rs1050944219 N.D. synonymousTIle [I]360
contig referenceCIle [I]360
120811667403 rs1440165170 N.D. synonymousTGly [G]359
contig referenceCGly [G]359
120811670400 rs1186288080 N.D. synonymousTAsn [N]358
contig referenceCAsn [N]358
120811671399 rs891069256 N.D. missenseGSer [S]258
contig referenceAAsn [N]258
120811673397 rs1475986662 N.D. synonymousTTyr [Y]357
contig referenceCTyr [Y]357
120811674396 rs771364785 0.000 missenseCSer [S]257
missenseTPhe [F]257
contig referenceATyr [Y]257
120811675395 rs145615160 0.000