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SNP linked to Gene (geneID:3850) Via Contig Annotation

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

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_057088.2minus strandNP_476429.2reverseNT_029419.13GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_029419.13NM_057088.2NP_476429.2reverseminus strand756, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
527900451950 rs1372623254 N.D. missenseCSer [S]3628
contig referenceAArg [R]3628
527900481947 rs1229397080 N.D. synonymousTSer [S]3627
contig referenceCSer [S]3627
527900551940 rs1315514569 N.D. missenseAHis [H]2625
missenseTLeu [L]2625
contig referenceGArg [R]2625
527900561939 rs1030115943 N.D. missenseASer [S]1625
missenseGGly [G]1625
contig referenceCArg [R]1625
527900601935 rs950945190 N.D. synonymousTSer [S]3623
contig referenceCSer [S]3623
527900641931 rs1299500453 N.D. missenseGCys [C]2622
missenseTPhe [F]2622
contig referenceCSer [S]2622
527900701925 rs1320431124 N.D. missenseTPhe [F]2620
contig referenceCSer [S]2620
527900771918 rs1180852416 N.D. missenseGGlu [E]1618
contig referenceCGln [Q]1618
527900781917 rs1233100608 N.D. synonymousTSer [S]3617
contig referenceCSer [S]3617
527900791916 rs1040058214 N.D. missenseGCys [C]2617
contig referenceCSer [S]2617
527900801915 rs1457952738 N.D. missenseCPro [P]1617
contig referenceTSer [S]1617
527900811914 rs1200078959 N.D. missenseALeu [L]3616
contig referenceCPhe [F]3616
527900821913 rs1235837786 N.D. missenseCSer [S]2616
contig referenceTPhe [F]2616
527900841911 rs576534580 0.000byClusterWith1000GenomeData0.0002 missenseTAsn [N]3615
synonymousALys [K]3615
contig referenceGLys [K]3615
527900851910 rs1480065619 N.D. missenseGArg [R]2615
contig referenceALys [K]2615
527900861909 rs1181929565 N.D. nonsenseT1615
contig referenceALys [K]1615
527900871908 rs1415940817 N.D. missenseGMet [M]3614
synonymousAIle [I]3614
contig referenceCIle [I]3614
527900881907 rs1421950425 N.D. missenseAAsn [N]2614
contig referenceTIle [I]2614
527900891906 rs983592929 N.D. missenseGVal [V]1614
contig referenceAIle [I]1614
527900931902 rs1163981650 N.D. synonymousGGly [G]3612
contig referenceCGly [G]3612
527900951900 rs1210592376 N.D. missenseASer [S]1612
contig referenceGGly [G]1612
527900961899 rs540766728 0.000byFreqWith1000GenomeData0.0014 synonymousAGly [G]3611
synonymousGGly [G]3611
synonymousTGly [G]3611
contig referenceCGly [G]3611
527900981897 rs187547495 0.002byClusterbyFreqWith1000GenomeData0.0024 missenseASer [S]1611
contig referenceGGly [G]1611
527901001895 rs1051005154 N.D. missenseCPro [P]2610
contig referenceGArg [R]2610
527901011894 rs574574001 0.000byFreqWith1000GenomeData0.0012 missenseTTrp [W]1610
contig referenceCArg [R]1610
527901111884 rs368606859 0.000byClusterWith1000GenomeData0.0002 synonymousASer [S]3606
contig referenceGSer [S]3606
527901121883 rs1036440282 N.D. missenseGTrp [W]2606
contig referenceCSer [S]2606
527901141881 rs1304628391 N.D. synonymousTSer [S]3605
contig referenceCSer [S]3605
527901161879 rs897951666 N.D. missenseGGly [G]1605
contig referenceASer [S]1605
527901191876 rs1377665888 N.D. missenseCLeu [L]1604
contig referenceTPhe [F]1604
527901211874 rs1233157974 N.D. frame shift-Ala [A]2603
contig referenceGGly [G]2603
527901211874 rs1279250467 N.D. missenseAAsp [D]2603
contig referenceGGly [G]2603
527901221873 rs1320368974 N.D. missenseTCys [C]1603
contig referenceGGly [G]1603
527901231872 rs563448110 0.000byFreqWith1000GenomeData0.0004 synonymousAGly [G]3602
contig referenceGGly [G]3602
527901241871 rs1270523600 N.D. missenseAGlu [E]2602
contig referenceGGly [G]2602
527901251870 rs1306541158 N.D. missenseAArg [R]1602
contig referenceGGly [G]1602
527901261869 rs1323327414 N.D. synonymousTGly [G]3601
contig referenceCGly [G]3601
527901271868 rs192685142 0.001byClusterbyFreqWith1000GenomeData0.0010 missenseAAsp [D]2601
contig referenceGGly [G]2601
527901281867 rs1238657606 N.D. missenseASer [S]1601
contig referenceGGly [G]1601
527901341861 rs1484661214 N.D. missenseAIle [I]1599
contig referenceGVal [V]1599
527901371858 rs1187062721 N.D. missenseAArg [R]1598
contig referenceGGly [G]1598
527901431852 rs1263633779 N.D. missenseTCys [C]1596
contig referenceCArg [R]1596
527901461849 rs934445826 N.D. missenseAThr [T]1595
contig referenceGAla [A]1595
527901471848 rs1052951820 N.D. synonymousAGly [G]3594
synonymousTGly [G]3594
contig referenceCGly [G]3594
527901511844 rs552605707 0.000With1000GenomeData0.0004 missenseGCys [C]2593
missenseTPhe [F]2593
contig referenceCSer [S]2593
527901521842 rs1415217420 N.D. frame shiftCLeu [L]3593
contig reference-Ser [S]3593
527901531842 rs1453725539 N.D. synonymousTIle [I]3592
contig referenceCIle [I]3592
527901571838 rs748142729 0.000byFreq missenseTPhe [F]2591
contig referenceCSer [S]2591
527901601835 rs1250994500 N.D. missenseTVal [V]2590
contig referenceGGly [G]2590
527901631832 rs867666989 N.D.byCluster missenseGCys [C]2589
contig referenceTPhe [F]2589
527901671827 rs570613061 0.083byClusterbyFreqWith1000GenomeData0.0889 (21bp) [cds-indel]3587
527901681827 rs1357444161 N.D. synonymousTSer [S]3587
contig referenceCSer [S]3587
527901721791 rs1447612400 N.D. -3576
527901741821 rs1414715906 N.D. synonymousCGly [G]3585
contig referenceTGly [G]3585
527901761819 rs1299411672 N.D. missenseASer [S]1585
contig referenceGGly [G]1585
527901771818 rs1342920506 N.D. synonymousTSer [S]3584
contig referenceCSer [S]3584
527901781816 rs1398589283 N.D. (21bp) [cds-indel]1583
527901791815 rs1269943150 N.D. (21bp) [cds-indel]3583
527901851809 rs772316894 0.000byCluster AGCSer [S]3581
527901861809 rs771677354 0.000 missenseAArg [R]3581
contig referenceCSer [S]3581
527901941800 rs60125653 N.D. (21bp) [cds-indel]3587
527901941801 rs772879943 0.000byCluster missenseASer [S]1579
missenseTCys [C]1579
contig referenceGGly [G]1579
527901951800 rs756404541 0.002byClusterbyFreq synonymousTGly [G]3578
contig referenceCGly [G]3578
527901951799 rs1470826526 N.D. frame shift(22bp)Pro [P]2579
contig reference-Gly [G]2579
527901991795 rs775731296 0.000 frame shiftAGlu [E]1577
contig reference-Gly [G]1577
527902001795 rs766068025 0.002byClusterbyFreq missenseASer [S]1577
missenseCArg [R]1577
contig referenceGGly [G]1577
527902011794 rs763373640 0.002byFreq synonymousCPhe [F]3576
contig referenceTPhe [F]3576
527902041789 rs760919182 0.000byFreq -1575
527902041791 rs764424762 0.001byFreq synonymousTGly [G]3575
contig referenceAGly [G]3575
527902051790 rs1012182608 N.D. missenseAGlu [E]2575
contig referenceGGly [G]2575
527902061789 rs1478486220 N.D. nonsenseT1575
contig referenceGGly [G]1575
527902071788 rs752040729 0.001byFreq synonymousGGly [G]3574
contig referenceTGly [G]3574
527902091786 rs767549564 0.000byFreq missenseASer [S]1574
contig referenceGGly [G]1574
527902101785 rs564529238 0.001byFreqWith1000GenomeData0.0004 synonymousTGly [G]3573
contig referenceCGly [G]3573
527902121783 rs867046839 N.D.byCluster missenseASer [S]1573
missenseCArg [R]1573
missenseTCys [C]1573
contig referenceGGly [G]1573
527902161779 rs200112473 0.017byClusterbyFreqWith1000GenomeData0.0084 synonymousCGly [G]3571
synonymousGGly [G]3571
synonymousTGly [G]3571
contig referenceAGly [G]3571
527902191776 rs372754733 0.000byClusterbyFreq synonymousCGly [G]3570
contig referenceTGly [G]3570
527902191776 rs1159302141 N.D. frame shift-Glu [E]3571
contig referenceTGly [G]3571
527902211774 rs1418370341 N.D. missenseASer [S]1570
contig referenceGGly [G]1570
527902241771 rs1318104379 N.D. missenseASer [S]1569
missenseCArg [R]1569
contig referenceGGly [G]1569
527902281767 rs1331985382 N.D. synonymousTGly [G]3567
contig referenceAGly [G]3567
527902291766 rs997230398 N.D. missenseAGlu [E]2567
contig referenceGGly [G]2567
527902301765 rs764554987 0.000byClusterbyFreq missenseCArg [R]1567
contig referenceGGly [G]1567
527902321763 rs979270533 N.D. missenseAGln [Q]2566
missenseCPro [P]2566
contig referenceGArg [R]2566
527902331762 rs1368320845 N.D. missenseTTrp [W]1566
contig referenceCArg [R]1566
527902341761 rs886203556 N.D. synonymousTGly [G]3565
contig referenceCGly [G]3565
527902401755 rs1309315920 N.D. synonymousTGly [G]3563
contig referenceCGly [G]3563
527902411754 rs754776557 0.000 missenseAAsp [D]2563
contig referenceGGly [G]2563
527902471748 rs1346557689 N.D. missenseCAla [A]2561
contig referenceGGly [G]2561
527902481747 rs1170454109 N.D. missenseASer [S]1561
contig referenceGGly [G]1561
527902491746 rs375768900 0.000byCluster synonymousGSer [S]3560
contig referenceASer [S]3560
527902511744 rs1283298554 N.D. missenseCPro [P]1560
contig referenceTSer [S]1560
527902521743 rs1241657089 N.D. synonymousTGly [G]3559
contig referenceCGly [G]3559
527902541741 rs1191110102 N.D. missenseASer [S]1559
contig referenceGGly [G]1559
527902551740 rs1452032587 N.D. synonymousTGly [G]3558
contig referenceCGly [G]3558
527902561739 rs1223475823 N.D. missenseAAsp [D]2558
contig referenceGGly [G]2558
527902581737 rs1444357742 N.D. synonymousGGly [G]3557
synonymousTGly [G]3557
contig referenceCGly [G]3557
527902591736 rs367763143 0.000byClusterbyFreq missenseAAsp [D]2557
contig referenceGGly [G]2557
527902601735 rs1453965662 N.D. missenseASer [S]1557
contig referenceGGly [G]1557
527902611734 rs1016369496 N.D. synonymousAAla [A]3556
contig referenceGAla [A]3556
527902651730 rs1179368128 N.D. missenseAAsn [N]2555
missenseTIle [I]2555
contig referenceGSer [S]2555
527902661729 rs1215733201 N.D. missenseGGly [G]1555
contig referenceASer [S]1555
527902681727 rs199840248 0.000byCluster missenseGCys [C]2554
contig referenceTPhe [F]2554
527902721723 rs772789743 0.000byCluster missenseASer [S]1553
contig referenceGGly [G]1553
527902741721 rs1023932586 N.D. missenseAAsp [D]2552
contig referenceGGly [G]2552
527902761719 rs375197284 0.001byClusterbyFreq synonymousGGly [G]3551
contig referenceAGly [G]3551
527902771718 rs770417155 0.000 missenseAGlu [E]2551
contig referenceGGly [G]2551
527902811714 rs1194862360 N.D. missenseGVal [V]1550
contig referenceTLeu [L]1550
527902821713 rs1392080382 N.D. synonymousGGly [G]3549
contig referenceTGly [G]3549
527902871708 rs754068887 0.000byCluster missenseASer [S]1548
missenseCArg [R]1548
missenseTCys [C]1548
contig referenceGGly [G]1548
527902881707 rs1373447963 N.D. synonymousAGly [G]3547
contig referenceCGly [G]3547
527902891706 rs759160741 0.000byCluster missenseAAsp [D]2547
contig referenceGGly [G]2547
527902901705 rs1391887539 N.D. missenseASer [S]1547
contig referenceGGly [G]1547
527902921703 rs1050703717 N.D. missenseCThr [T]2546
contig referenceTMet [M]2546
527902931702 rs1420759141 N.D. missenseGVal [V]1546
contig referenceAMet [M]1546
527902951700 rs547164798 0.003byFreqWith1000GenomeData0.0004 missenseAAsp [D]2545
missenseTVal [V]2545
contig referenceGGly [G]2545
527902961699 rs1331456447 N.D. missenseASer [S]1545
contig referenceGGly [G]1545
527902981697 rs768674767 0.000 frame shift-Glu [E]2544
contig referenceGGly [G]2544
527902981697 rs989586433 N.D. missenseAGlu [E]2544
contig referenceGGly [G]2544
527902991696 rs184297044 0.000With1000GenomeData0.0006 missenseAArg [R]1544
missenseCArg [R]1544
contig referenceGGly [G]1544
527903001695 rs1036555234 N.D. synonymousTGly [G]3543
contig referenceCGly [G]3543
527903021693 rs762261001 0.000byFreq missenseASer [S]1543
missenseCArg [R]1543
contig referenceGGly [G]1543
527903041689 rs1020268283 N.D.byCluster -3542
527903071688 rs768028408 0.000 missenseAAsp [D]2541
contig referenceGGly [G]2541
527903091686 rs1270991406 N.D. synonymousCGly [G]3540
contig referenceAGly [G]3540
527903101685 rs897897936 N.D. missenseTVal [V]2540
contig referenceGGly [G]2540
527903111684 rs369377430 0.000byCluster missenseAArg [R]1540
contig referenceGGly [G]1540
527903131682 rs1240110162 N.D. missenseCAla [A]2539
contig referenceGGly [G]2539
527903141681 rs760792341 0.000byFreq missenseAArg [R]1539
missenseCArg [R]1539
contig referenceGGly [G]1539
527903161679 rs1002969230 N.D. missenseGCys [C]2538
contig referenceATyr [Y]2538
527903221673 rs35394995 N.D. frame shift-Val [V]2536
contig referenceGGly [G]2536
527903221673 rs1369599287 N.D. missenseAAsp [D]2536
contig referenceGGly [G]2536
527903241671 rs1271437514 N.D. synonymousGAla [A]3535
contig referenceAAla [A]3535
527903271668 rs1474042268 N.D. synonymousTSer [S]3534
contig referenceCSer [S]3534
527903321663 rs754055915 0.000 missenseTSer [S]1533
contig referenceGAla [A]1533
527903331662 rs1057130008 N.D. synonymousASer [S]3532
synonymousTSer [S]3532
contig referenceCSer [S]3532
527903381657 rs373112698 0.000byClusterbyFreq missenseGAla [A]1531
contig referenceAThr [T]1531
527903421653 rs778801419 0.000 synonymousTSer [S]3529
contig referenceCSer [S]3529
527903451650 rs1402004483 N.D. missenseGArg [R]3528
contig referenceCSer [S]3528
527903491646 rs752552174 0.000byFreq missenseCThr [T]2527
contig referenceGSer [S]2527
527903501645 rs1327563970 N.D. missenseTCys [C]1527
contig referenceASer [S]1527
527903531642 rs1341022699 N.D. missenseCLeu [L]1526
contig referenceGVal [V]1526
527903541641 rs758342968 0.000 synonymousAVal [V]3525
contig referenceGVal [V]3525
527903571638 rs777849989 0.000byFreq synonymousGSer [S]3524
contig referenceCSer [S]3524
527903581637 rs1333799801 N.D. missenseTPhe [F]2524
contig referenceCSer [S]2524
527908391635 rs748984203 0.000 missenseGMet [M]3523
contig referenceCIle [I]3523
527908411633 rs1381433938 N.D. missenseGVal [V]1523
contig referenceAIle [I]1523
527908421632 rs370680022 0.001byClusterbyFreq missenseGArg [R]3522
contig referenceCSer [S]3522
527908441630 rs1373439452 N.D. missenseTCys [C]1522
contig referenceASer [S]1522
527908461628 rs773478114 0.000 missenseCAla [A]2521
contig referenceTVal [V]2521
527908511623 rs1302710427 N.D. synonymousCSer [S]3519
contig referenceTSer [S]3519
527908541620 rs1355070492 N.D. synonymousAPro [P]3518
synonymousCPro [P]3518
contig referenceGPro [P]3518
527908551619 rs761193909 0.000byClusterbyFreq missenseTLeu [L]2518
contig referenceCPro [P]2518
527908581616 rs771353505 0.000 missenseATyr [Y]2517
contig referenceGCys [C]2517
527908601614 rs776707045 0.000 synonymousAGlu [E]3516
contig referenceGGlu [E]3516
527908661608 rs759683403 0.000 synonymousASer [S]3514
contig referenceTSer [S]3514
527912171590 rs768851365 0.000byFreq synonymousTGly [G]3508
contig referenceCGly [G]3508
527912251582 rs1186937455 N.D. synonymousTLeu [L]1506
contig referenceCLeu [L]1506
527912261581 rs375181234 0.000byClusterbyFreq synonymousALeu [L]3505
synonymousTLeu [L]3505
contig referenceGLeu [L]3505
527912281579 rs200542944 0.000byClusterWith1000GenomeData0.0002 synonymousTLeu [L]1505
contig referenceCLeu [L]1505
527912291578 rs771719628 0.000 synonymousALys [K]3504
contig referenceGLys [K]3504
527912341573 rs760545335 0.000byFreq missenseTCys [C]1503
contig referenceCArg [R]1503
527912381569 rs1315443019 N.D. synonymousGThr [T]3501
contig referenceCThr [T]3501
527912401567 rs766306589 0.000byFreq missenseTSer [S]1501
contig referenceAThr [T]1501
527912411566 rs753837561 0.000 synonymousTAla [A]3500
contig referenceCAla [A]3500
527912421565 rs1279191436 N.D. missenseTVal [V]2500
contig referenceCAla [A]2500
527912431564 rs758956038 0.000byFreq missenseAThr [T]1500
missenseTSer [S]1500
contig referenceGAla [A]1500
527912441563 rs764850228 0.000byFreq synonymousAIle [I]3499
synonymousTIle [I]3499
contig referenceCIle [I]3499
527912471560 rs1270272836 N.D. synonymousAGlu [E]3498
contig referenceGGlu [E]3498
527912521555 rs200588015 0.001byClusterbyFreq missenseAMet [M]1497
contig referenceGVal [V]1497
527912531554 rs372122010 0.000byClusterbyFreq missenseAGlu [E]3496
missenseGGlu [E]3496
synonymousTAsp [D]3496
contig referenceCAsp [D]3496
527912541553 rs898952764 N.D. missenseTVal [V]2496
contig referenceAAsp [D]2496
527912561551 rs376995818 0.000byCluster synonymousALeu [L]3495
contig referenceGLeu [L]3495
527912581549 rs756624667 0.000byFreq missenseGVal [V]1495
synonymousTLeu [L]1495
contig referenceCLeu [L]1495
527912591548 rs1209932207 N.D. synonymousAAla [A]3494
contig referenceCAla [A]3494
527912601547 rs749872046 0.000 missenseTVal [V]2494
contig referenceCAla [A]2494
527912641543 rs960252417 N.D. missenseGVal [V]1493
contig referenceCLeu [L]1493
527912661541 rs368503459 0.000byCluster missenseGArg [R]2492
contig referenceALys [K]2492
527912691538 rs1476522055 N.D. missenseCAla [A]2491
contig referenceTVal [V]2491
527912721535 rs559132133 N.D.byCluster frame shift-Met [M]2490
contig referenceAAsn [N]2490
527912741533 rs779076873 0.000byFreq missenseAIle [I]3489
contig referenceGMet [M]3489
527912751532 rs1433892635 N.D. missenseCThr [T]2489
contig referenceTMet [M]2489
527912791528 rs1175563068 N.D. missenseAMet [M]1488
contig referenceCLeu [L]1488
527912801527 rs1472036005 N.D. synonymousAGlu [E]3487
contig referenceGGlu [E]3487
527912861514 rs762376853 0.000 frame shift-Pro [P]2483
contig reference(8bp)Arg [R]2483
527912881519 rs765720147 0.000 frame shift-Thr [T]1485
contig referenceTTyr [Y]1485
527912911516 rs748267046 0.000byFreq missenseAAsn [N]1484
contig referenceGAsp [D]1484
527912931514 rs772349450 0.000byFreq missenseAHis [H]2483
missenseTLeu [L]2483
contig referenceGArg [R]2483
527912941513 rs372152150 0.000byCluster missenseTCys [C]1483
contig referenceCArg [R]1483
527912961511 rs760457298 0.000 missenseCPro [P]2482
contig referenceTLeu [L]2482
527913021505 rs770770484 0.000byFreq missenseAGln [Q]2480
contig referenceGArg [R]2480
527913031504 rs546099163 0.000byFreqWith1000GenomeData0.0004 missenseTTrp [W]1480
contig referenceCArg [R]1480
527913041503 rs201814725 0.000byClusterbyFreq synonymousAAla [A]3479
synonymousTAla [A]3479
contig referenceGAla [A]3479
527913051502 rs764612877 0.000byCluster missenseAGlu [E]2479
missenseTVal [V]2479
contig referenceCAla [A]2479
527913061501 rs752275565 0.000byFreq missenseAThr [T]1479
contig referenceGAla [A]1479
527913101497 rs762457359 0.000 missenseAGlu [E]3477
synonymousTAsp [D]3477
contig referenceCAsp [D]3477
527913131494 rs763847196 0.000 missenseAGlu [E]3476
contig referenceTAsp [D]3476
527913151492 rs1213370734 N.D. missenseAAsn [N]1476
contig referenceGAsp [D]1476
527913191488 rs368969102 0.000byClusterbyFreq synonymousAAla [A]3474
contig referenceGAla [A]3474
527913201487 rs201927015 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTVal [V]2474
contig referenceCAla [A]2474
527913221485 rs780618381 0.000byFreq missenseTHis [H]3473
contig referenceGGln [Q]3473
527913261481 rs750776553 0.000 frame shift-Arg [R]2472
contig referenceAGln [Q]2472
527913271480 rs754256275 0.000 nonsenseT1472
contig referenceCGln [Q]1472
527913301477 rs1159852256 N.D. synonymousTLeu [L]1471
contig referenceCLeu [L]1471
527913311476 rs374904266 0.000byClusterbyFreq synonymousCAla [A]3470
contig referenceTAla [A]3470
527913361471 rs778798350 0.000 missenseAThr [T]1469
contig referenceGAla [A]1469
527913371470 rs748261838 0.000 synonymousAGln [Q]3468
contig referenceGGln [Q]3468
527913381469 rs758539163 0.000 missenseTLeu [L]2468
contig referenceAGln [Q]2468
527913391468 rs1441126884 N.D. nonsenseT1468
contig referenceCGln [Q]1468
527913401467 rs369147846 0.000byCluster synonymousALeu [L]3467
contig referenceGLeu [L]3467
527913421465 rs747280783 0.000 synonymousTLeu [L]1467
contig referenceCLeu [L]1467
527913461461 rs770680735 0.000 synonymousGGln [Q]3465
contig referenceAGln [Q]3465
527913521455 rs776442633 0.000byFreq synonymousALys [K]3463
contig referenceGLys [K]3463
527913611446 rs1352714680 N.D. synonymousTAla [A]3460
contig referenceCAla [A]3460
527913621445 rs745745104 0.000 missenseAAsp [D]2460
contig referenceCAla [A]2460
527913661441 rs1375984821 N.D. missenseAAsn [N]1459
contig referenceGAsp [D]1459
527913671440 rs1283236869 N.D. synonymousALys [K]3458
contig referenceGLys [K]3458
527913701437 rs376658995 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTLeu [L]3457
contig referenceCLeu [L]3457
527913731434 rs1215711921 N.D. synonymousTAla [A]3456
contig referenceCAla [A]3456
527913741433 rs774799529 0.000 missenseTVal [V]2456
contig referenceCAla [A]2456
527913761431 rs762523856 0.000 missenseAIle [I]3455
contig referenceGMet [M]3455
527913861421 rs1443142374 N.D. missenseCPro [P]2452
contig referenceAHis [H]2452
527913871420 rs933212537 N.D. missenseTTyr [Y]1452
contig referenceCHis [H]1452
527913931414 rs189910350 0.000byClusterbyFreqWith1000GenomeData0.0012 missenseALys [K]1450
contig referenceGGlu [E]1450
527913951412 rs761585201 0.000byFreq missenseTVal [V]2449
contig referenceCAla [A]2449
527913961411 rs1159444990 N.D. missenseTSer [S]1449
contig referenceGAla [A]1449
527913971410 rs766797079 0.000 synonymousAGlu [E]3448
contig referenceGGlu [E]3448
527913991408 rs371219499 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseALys [K]1448
contig referenceGGlu [E]1448
527914001407 rs200194933 0.000byClusterbyFreq synonymousAAla [A]3447
synonymousTAla [A]3447
contig referenceCAla [A]3447
527914021405 rs943193340 N.D. missenseAThr [T]1447
contig referenceGAla [A]1447
527914041403 rs1166732727 N.D. missenseAAsn [N]2446
contig referenceTIle [I]2446
527914051402 rs1391820866 N.D. missenseGVal [V]1446
contig referenceAIle [I]1446
527914061401 rs1176278238 N.D. synonymousTAla [A]3445
contig referenceCAla [A]3445
527914091398 rs373424785 0.000byCluster synonymousAThr [T]3444
synonymousTThr [T]3444
contig referenceGThr [T]3444
527914101397 rs199625544 0.000byClusterbyFreqWith1000GenomeData missenseTMet [M]2444
contig referenceCThr [T]2444
527914141393 rs148874235 0.000byClusterbyFreqWith1000GenomeData0.0002 nonsenseT1443
contig referenceCGln [Q]1443
527914171390 rs1439859245 N.D. frame shift-Cys [C]1442
contig referenceCLeu [L]1442
527914181389 rs960427199 N.D. synonymousTAsn [N]3441
contig referenceCAsn [N]3441
527914211386 rs747192852 0.000 synonymousTAla [A]3440
contig referenceCAla [A]3440
527914221385 rs1234886008 N.D. missenseTVal [V]2440
contig referenceCAla [A]2440
527914231384 rs757493731 0.000 missenseAThr [T]1440
contig referenceGAla [A]1440
527914251382 rs780794585 0.000 missenseGSer [S]2439
contig referenceAAsn [N]2439
527916981373 rs1047519998 N.D. missenseGArg [R]2436
contig referenceALys [K]2436
527917011370 rs781475306 0.000 missenseCAla [A]2435
contig referenceTVal [V]2435
527917061365 rs369576134 0.000byClusterbyFreq synonymousAGlu [E]3433
contig referenceGGlu [E]3433
527917081363 rs61929765 0.219byClusterbyFreqWith1000GenomeData0.0895 missenseALys [K]1433
missenseALys [K]1433
contig referenceGGlu [E]1433
contig referenceGGlu [E]1433
527917091362 rs376783753 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTIle [I]3432
contig referenceCIle [I]3432
527917141357 rs1474166741 N.D. missenseCGln [Q]1431
contig referenceGGlu [E]1431
527917181353 rs994630536 N.D. synonymousAArg [R]3429
contig referenceGArg [R]3429
527917191352 rs768725246 0.000byFreq missenseAGln [Q]2429
contig referenceGArg [R]2429
527917201351 rs369797699 0.000byClusterbyFreq missenseTTrp [W]1429
synonymousAArg [R]1429
contig referenceCArg [R]1429
527917211350 rs148055325 0.000byClusterWith1000GenomeData0.0002 synonymousALeu [L]3428
contig referenceGLeu [L]3428
527917271344 rs1310862794 N.D. synonymousAGln [Q]3426
contig referenceGGln [Q]3426
527917281343 rs771537722 0.000 missenseGArg [R]2426
contig referenceAGln [Q]2426
527917301341 rs867152021 N.D. synonymousTIle [I]3425
contig referenceCIle [I]3425
527917341337 rs1255302113 N.D. missenseCThr [T]2424
contig referenceTMet [M]2424
527917371334 rs772896965 0.000byFreq missenseTIle [I]2423
contig referenceGArg [R]2423
527917401331 rs760285118 0.000 missenseTIle [I]2422
contig referenceAAsn [N]2422
527917431328 rs770156064 0.000 missenseCPro [P]2421
contig referenceTLeu [L]2421
527917471324 rs1226841112 N.D. missenseALys [K]1420
contig referenceGGlu [E]1420
527917491322 rs775629286 N.D. missenseCThr [T]2419
contig referenceTIle [I]2419
527917501321 rs775740479 0.000 missenseGVal [V]1419
contig referenceAIle [I]1419
527917541317 rs1218326947 N.D. missenseTAsp [D]3417
contig referenceGGlu [E]3417
527917561315 rs1232654730 N.D. missenseALys [K]1417
missenseCGln [Q]1417
contig referenceGGlu [E]1417
527917571314 rs141642714 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTSer [S]3416
contig referenceCSer [S]3416
527917601311 rs764590850 0.000 missenseCAsn [N]3415
synonymousALys [K]3415
contig referenceGLys [K]3415
527917651306 rs752128708 0.000byFreq missenseGAla [A]1414
contig referenceAThr [T]1414
527917711300 rs1263454194 N.D. missenseGGly [G]1412
contig referenceAArg [R]1412
527917741297 rs1444880066 N.D. missenseGVal [V]1411
contig referenceCLeu [L]1411
527917761295 rs1033101363 N.D. missenseTVal [V]2410
contig referenceAAsp [D]2410
527917771294 rs761870119 0.000 missenseAAsn [N]1410
contig referenceGAsp [D]1410
527917781293 rs767546888 0.000 missenseAGlu [E]3409
contig referenceTAsp [D]3409
527917791292 rs750631850 0.000 missenseTVal [V]2409
contig referenceAAsp [D]2409
527917801291 rs891971466 N.D. missenseAAsn [N]1409
contig referenceGAsp [D]1409
527917811290 rs201333279 0.000byClusterbyFreq synonymousAGly [G]3408
contig referenceGGly [G]3408
527917851286 rs779835862 0.000 missenseGArg [R]2407
contig referenceAHis [H]2407
527917901281 rs1301656709 N.D. synonymousTGly [G]3405
contig referenceCGly [G]3405
527917961275 rs753687170 0.000byFreq synonymousAThr [T]3403
contig referenceGThr [T]3403
527917971274 rs200151587 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseTMet [M]2403
contig referenceCThr [T]2403
527918001271 rs778979029 0.000byFreq missenseAAsn [N]2402
contig referenceCThr [T]2402
527918081263 rs569711834 N.D.byCluster synonymousAGlu [E]3399
contig referenceGGlu [E]3399
527918101259 rs763264652 0.000byFreq -2398
527918101261 rs1434570166 N.D. missenseALys [K]1399
contig referenceGGlu [E]1399
527918111260 rs1326666351 N.D. synonymousAGly [G]3398
contig referenceGGly [G]3398
527918131258 rs748143077 0.000 missenseCArg [R]1398
contig referenceGGly [G]1398
527918161255 rs534142348 0.000byFreqWith1000GenomeData0.0002 synonymousCLeu [L]1397
contig referenceTLeu [L]1397
527922431250 rs754168931 0.000 missenseTIle [I]2395
contig referenceCThr [T]2395
527922461247 rs1264302569 N.D. missenseGArg [R]2394
contig referenceAGln [Q]2394
527922471246 rs1480919763 N.D. nonsenseT1394
contig referenceCGln [Q]1394
527922481245 rs1209528739 N.D. synonymousTTyr [Y]3393
contig referenceCTyr [Y]3393
527922551238 rs983272715 N.D. missenseGGly [G]2391
contig referenceCAla [A]2391
527922561237 rs917107183 N.D. missenseAThr [T]1391
contig referenceGAla [A]1391
527922591234 rs754796476 0.000 missenseALys [K]1390
contig referenceGGlu [E]1390
527922611232 rs765161937 0.000 missenseGGly [G]2389
contig referenceCAla [A]2389
527922651228 rs372108723 0.000byClusterbyFreq missenseALys [K]1388
contig referenceGGlu [E]1388
527922661227 rs374548119 0.000byClusterbyFreq synonymousGAla [A]3387
synonymousTAla [A]3387
contig referenceCAla [A]3387
527922771216 rs1420329480 N.D. missenseGGly [G]1384
contig referenceAArg [R]1384
527922781215 rs1200361673 N.D. missenseCHis [H]3383
contig referenceGGln [Q]3383
527922791214 rs746507044 0.000byFreq missenseTLeu [L]2383
contig referenceAGln [Q]2383
527922801213 rs756859222 0.000byFreq nonsenseT1383
contig referenceCGln [Q]1383
527922831210 rs780811924 0.000byFreq missenseAThr [T]1382
contig referenceGAla [A]1382
527922841209 rs745571194 0.000byFreq missenseGMet [M]3381
synonymousTIle [I]3381
contig referenceCIle [I]3381
527922861207 rs768981318 0.000 missenseGVal [V]1381
contig referenceAIle [I]1381
527922871206 rs1370461181 N.D. synonymousCAsp [D]3380
contig referenceTAsp [D]3380
527922881205 rs766145049 N.D. missenseTVal [V]2380
contig referenceAAsp [D]2380
527922891204 rs369084756 N.D.byCluster missenseCHis [H]1380
contig referenceGAsp [D]1380
527922901203 rs774733153 0.000 synonymousAGlu [E]3379
contig referenceGGlu [E]3379
527922951198 rs748644143 0.000 missenseCHis [H]1378
contig referenceTTyr [Y]1378
527923031190 rs1226191522 N.D. missenseAHis [H]2375
missenseTLeu [L]2375
contig referenceGArg [R]2375
527923041189 rs3887954 0.499byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.3778 missenseGGly [G]1375
missenseGGly [G]1375
missenseGGly [G]1375
missenseGGly [G]1375
missenseTCys [C]1375
missenseTCys [C]1375
missenseTCys [C]1375
missenseTCys [C]1375
contig referenceCArg [R]1375
contig referenceCArg [R]1375
contig referenceCArg [R]1375
contig referenceCArg [R]1375
527923111182 rs202245534 0.002byClusterbyFreqWith1000GenomeData0.0020 synonymousCAla [A]3372
contig referenceTAla [A]3372
527923121181 rs766612920 0.000 missenseTVal [V]2372
contig referenceCAla [A]2372
527923141179 rs1272435220 N.D. synonymousCIle [I]3371
contig referenceTIle [I]3371
527923151178 rs1482662790 N.D. missenseGSer [S]2371
contig referenceTIle [I]2371
527923191174 rs1211356398 N.D. missenseTPhe [F]1370
contig referenceAIle [I]1370
527923201173 rs1169662565 N.D. synonymousTSer [S]3369
contig referenceCSer [S]3369
527923211172 rs776960648 0.000 missenseAAsn [N]2369
contig referenceGSer [S]2369
527923231170 rs1466349366 N.D. synonymousTAsp [D]3368
contig referenceCAsp [D]3368
527923251168 rs200059777 0.001byClusterbyFreq missenseAAsn [N]1368
missenseTTyr [Y]1368
contig referenceGAsp [D]1368
527923271166 rs765075682 0.000byFreq missenseAGln [Q]2367
missenseCPro [P]2367
missenseGArg [R]2367
contig referenceTLeu [L]2367
527923301163 rs1191994312 N.D. frame shift-Ala [A]2366
contig referenceAAsp [D]2366
527923311162 rs1476418504 N.D. missenseAAsn [N]1366
contig referenceGAsp [D]1366
527923351158 rs1238397695 N.D. synonymousTSer [S]3364
contig referenceCSer [S]3364
527923381155 rs4432093 0.328byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.2123 synonymousTArg [R]3363
contig referenceCArg [R]3363
527923391154 rs200973641 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]2363
missenseCPro [P]2363
missenseTLeu [L]2363
contig referenceGArg [R]2363
527923401153 rs751579090 0.000 missenseTCys [C]1363
contig referenceCArg [R]1363
527923431150 rs1007354593 N.D. missenseGAsp [D]1362
contig referenceAAsn [N]1362
527923491144 rs756688492 0.000 missenseTTyr [Y]1360
contig referenceGAsp [D]1360
527923501143 rs1039785576 N.D. missenseCIle [I]3359
contig referenceGMet [M]3359
527923511142 rs780204542 N.D. missenseALys [K]2359
contig referenceTMet [M]2359
527923531140 rs780726456 0.000byFreq synonymousTSer [S]3358
contig referenceCSer [S]3358
527923591134 rs745471703 0.000 synonymousTVal [V]3356
contig referenceGVal [V]3356
527923611132 rs1374094307 N.D. missenseCLeu [L]1356
contig referenceGVal [V]1356
527923621131 rs1447745251 N.D. synonymousAVal [V]3355
contig referenceGVal [V]3355
527923641129 rs755791352 0.000 missenseTLeu [L]1355
contig referenceGVal [V]1355
527923651128 rs779194928 0.000 synonymousCSer [S]3354
contig referenceTSer [S]3354
527923691124 rs1257073420 N.D. missenseTIle [I]2353
contig referenceCThr [T]2353
527923711122 rs115678044 0.001byClusterbyFreqWith1000GenomeData0.0014 YessynonymousTAsp [D]3352
contig referenceCAsp [D]3352
527923741119 rs772557576 0.000byFreq missenseGArg [R]3351
contig referenceTSer [S]3351
527923781115 rs376324209 0.000byCluster YesmissenseCThr [T]2350
contig referenceTIle [I]2350
527923791114 rs1234844948 N.D. missenseGVal [V]1350
contig referenceAIle [I]1350
527923811112 rs369586403 0.000byClusterbyFreq YesmissenseGArg [R]2349
contig referenceAHis [H]2349
527923821111 rs1025680678 N.D. missenseTTyr [Y]1349
contig referenceCHis [H]1349
527923831110 rs771087005 0.000 missenseAArg [R]3348
contig referenceCSer [S]3348
527923861107 rs1209142316 N.D. synonymousAGln [Q]3347
contig referenceGGln [Q]3347
527923881105 rs1330597534 N.D. nonsenseT1347
contig referenceCGln [Q]1347
527923941099 rs776883053 0.000 nonsenseT1345
contig referenceCGln [Q]1345
527923971096 rs950586295 N.D. missenseAThr [T]1344
contig referenceTSer [S]1344
527924001093 rs116142090 0.000byClusterWith1000GenomeData0.0002 YesmissenseAIle [I]1343
contig referenceCLeu [L]1343
527927131087 rs750431445 0.000byFreq missenseAThr [T]1341
contig referenceGAla [A]1341
527927141086 rs150031039 0.000byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTAsp [D]3340
contig referenceCAsp [D]3340
527927161084 rs765965552 0.000 missenseAAsn [N]1340
contig referenceGAsp [D]1340
527927171083 rs200246450 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTTyr [Y]3339
contig referenceCTyr [Y]3339
527927201080 rs1190336951 N.D. synonymousGLeu [L]3338
contig referenceCLeu [L]3338
527927241076 rs1335667053 N.D. missenseAAsn [N]2337
contig referenceCThr [T]2337
527927281072 rs1476798427 N.D. synonymousCArg [R]1336
contig referenceAArg [R]1336
527927371063 rs754692663 0.000byFreq missenseAAsn [N]1333
missenseTTyr [Y]1333
contig referenceGAsp [D]1333
527927381062 rs144405688 0.005byClusterbyFreqWith1000GenomeData0.0018 YessynonymousTIle [I]3332
contig referenceCIle [I]3332
527927411059 rs1451540392 N.D. synonymousAGlu [E]3331
contig referenceGGlu [E]3331
527927481052 rs114078275 0.002byClusterbyFreqWith1000GenomeData0.0034 YesmissenseCThr [T]2329
contig referenceTIle [I]2329
527927501042 rs1235090785 N.D. -1326
527927511049 rs1487937193 N.D. missenseCSer [S]2328
contig referenceTLeu [L]2328
527927521048 rs1283843725 N.D. synonymousCLeu [L]1328
contig referenceTLeu [L]1328
527927551045 rs757754182 0.000 missenseAThr [T]1327
contig referenceGAla [A]1327
527927591041 rs114915149 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAVal [V]3325
synonymousTVal [V]3325
contig referenceGVal [V]3325
527927601040 rs1034157460 N.D. missenseCAla [A]2325
contig referenceTVal [V]2325
527927691031 rs1410809136 N.D. missenseCPro [P]2322
contig referenceAGln [Q]2322
527927751025 rs1475304949 N.D. missenseGGly [G]2320
contig referenceAGlu [E]2320
527927771023 rs746415737 0.000byFreq synonymousAVal [V]3319
contig referenceGVal [V]3319
527927791021 rs769969871 0.000 missenseAMet [M]1319
contig referenceGVal [V]1319
527927801020 rs1404240140 N.D. synonymousALys [K]3318
contig referenceGLys [K]3318
527927831017 rs780202478 0.000 synonymousTAsn [N]3317
contig referenceCAsn [N]3317
527927931007 rs199614200 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTVal [V]2314
contig referenceCAla [A]2314
527927941006 rs1407796020 N.D. missenseAThr [T]1314
contig referenceGAla [A]1314
527927961004 rs1287429274 N.D. missenseAAsn [N]2313
contig referenceGSer [S]2313
527927971003 rs768922936 0.000byCluster missenseGGly [G]1313
contig referenceASer [S]1313
52792802998 rs989862414 N.D. missenseCAla [A]2311
contig referenceTVal [V]2311
52792803997 rs773956344 0.000 missenseAMet [M]1311
contig referenceGVal [V]1311
52792805995 rs1019875779 N.D. missenseGGly [G]2310
contig referenceAAsp [D]2310
52792806994 rs761596093 0.000 missenseAAsn [N]1310
missenseCHis [H]1310
contig referenceGAsp [D]1310
52793170986 rs191432292 0.000byClusterWith1000GenomeData0.0002 YesmissenseCPro [P]2307
contig referenceTLeu [L]2307
52793171985 rs1193287729 N.D. frame shift-1307
contig referenceCLeu [L]1307
52793173983 rs1249272535 N.D. missenseTIle [I]2306
contig referenceCThr [T]2306
52793179977 rs1046367021 N.D. missenseGCys [C]2304
contig referenceTPhe [F]2304
52793179976 rs1306106726 N.D. frame shiftGAAT1304
contig reference-Phe [F]1304
52793184972 rs773024765 0.000byFreq missenseALys [K]3302
contig referenceTAsn [N]3302
52793186970 rs201472315 N.D.With1000GenomeData YesmissenseGAsp [D]1302
contig referenceAAsn [N]1302
52793190966 rs1167946198 N.D. synonymousCAla [A]3300
contig referenceTAla [A]3300
52793191965 rs1395587485 N.D. missenseAAsp [D]2300
contig referenceCAla [A]2300
52793192964 rs746882896 0.000 missenseTSer [S]1300
contig referenceGAla [A]1300
52793194962 rs369156432 0.000byClusterbyFreq YesmissenseTVal [V]2299
contig referenceCAla [A]2299
52793199957 rs549689957 0.000byFreqWith1000GenomeData0.0002 synonymousCArg [R]3297
contig referenceTArg [R]3297
52793200956 rs759082203 0.000byClusterbyFreq missenseAHis [H]2297
missenseTLeu [L]2297
contig referenceGArg [R]2297
52793201955 rs201121196 0.000byClusterbyFreq YesmissenseTCys [C]1297
contig referenceCArg [R]1297
52793201954 rs777355637 0.000 AAALys [K]3296
52793203953 rs762715105 0.000byFreq missenseCThr [T]2296
contig referenceALys [K]2296
52793205951 rs182554932 0.003byClusterbyFreqWith1000GenomeData0.0004 YessynonymousCAsn [N]3295
contig referenceTAsn [N]3295
52793214942 rs750818598 0.000byFreq missenseGGlu [E]3292
contig referenceTAsp [D]3292
52793215941 rs1304857254 N.D. missenseGGly [G]2292
contig referenceAAsp [D]2292
52793216940 rs897408604 N.D. missenseTTyr [Y]1292
contig referenceGAsp [D]1292
52793220936 rs1333445893 N.D. frame shift-3290
contig referenceTTyr [Y]3290
52793222934 rs1350628007 N.D. missenseCHis [H]1290
contig referenceTTyr [Y]1290
52793223933 rs1231554672 N.D. missenseCAsn [N]3289
contig referenceALys [K]3289
52794114929 rs1295013003 N.D. missenseGArg [R]2288
contig referenceALys [K]2288
52794115928 rs1425248753 N.D. missenseCGln [Q]1288
contig referenceALys [K]1288
52794116927 rs976967476 N.D. synonymousALys [K]3287
contig referenceGLys [K]3287
52794117926 rs1364847004 N.D. missenseCThr [T]2287
contig referenceALys [K]2287
52794120923 rs766707883 0.000 missenseGCys [C]2286
contig referenceTPhe [F]2286
52794121922 rs1184028496 N.D. missenseCLeu [L]1286
contig referenceTPhe [F]1286
52794123920 rs754325263 0.000 missenseGGly [G]2285
contig referenceAAsp [D]2285
52794134909 rs1472351452 N.D. missenseAGlu [E]3281
contig referenceCAsp [D]3281
52794137906 rs1165749649 N.D. synonymousAGlu [E]3280
contig referenceGGlu [E]3280
52794139904 rs1351756254 N.D. missenseALys [K]1280
contig referenceGGlu [E]1280
52794141902 rs373149040 0.000byCluster YesmissenseCThr [T]2279
contig referenceTMet [M]2279
52794146897 rs765235859 0.000 synonymousALys [K]3277
contig referenceGLys [K]3277
52794151892 rs778767371 0.000 frame shift-1276
contig referenceCLeu [L]1276
52794152891 rs1412102268 N.D. synonymousAGlu [E]3275
contig referenceGGlu [E]3275
52794159884 rs752789145 0.000 missenseGGly [G]2273
contig referenceAAsp [D]2273
52794160883 rs1348257167 N.D. missenseAAsn [N]1273
contig referenceGAsp [D]1273
52794161882 rs1227327699 N.D. synonymousTLeu [L]3272
contig referenceGLeu [L]3272
52794164879 rs932355450 N.D. synonymousTArg [R]3271
contig referenceCArg [R]3271
52794165878 rs376246180 0.000byClusterbyFreq YesmissenseAHis [H]2271
contig referenceGArg [R]2271
52794166877 rs777967628 0.000byFreq missenseTCys [C]1271
contig referenceCArg [R]1271
52794167876 rs1269937588 N.D. synonymousAGly [G]3270
contig referenceGGly [G]3270
52794171872 rs377035034 0.000byClusterbyFreq YesmissenseALys [K]2269
missenseCThr [T]2269
contig referenceGArg [R]2269
52794177866 rs1490279425 N.D. missenseTVal [V]2267
contig referenceGGly [G]2267
52794178865 rs780870200 0.000byFreq missenseAArg [R]1267
missenseCArg [R]1267
contig referenceGGly [G]1267
52794179864 rs745776578 0.000byFreq synonymousALeu [L]3266
synonymousTLeu [L]3266
contig referenceCLeu [L]3266
52794180863 rs1219417257 N.D. missenseAHis [H]2266
contig referenceTLeu [L]2266
52794181862 rs1207050803 N.D. frame shift-Ser [S]1266
contig referenceCLeu [L]1266
52794181862 rs1249256600 N.D. missenseTPhe [F]1266
contig referenceCLeu [L]1266
52794182861 rs1482601445 N.D. synonymousTIle [I]3265
contig referenceCIle [I]3265
52794184859 rs1229853799 N.D. missenseGVal [V]1265
contig referenceAIle [I]1265
52794188855 rs759079115 N.D. missenseGGlu [E]3263
contig referenceCAsp [D]3263
52794189854 rs779651067 0.000 missenseTVal [V]2263
contig referenceAAsp [D]2263
52794192851 rs867481885 N.D. missenseCPro [P]2262
contig referenceTLeu [L]2262
52794194849 rs1422175777 N.D. nonsenseA3261
contig referenceCTyr [Y]3261
52794197846 rs939665629 N.D. missenseAArg [R]3260
contig referenceCSer [S]3260
52794201842 rs199804632 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2259
missenseCPro [P]2259
contig referenceGArg [R]2259
52794202841 rs201818737 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTTrp [W]1259
synonymousAArg [R]1259
contig referenceCArg [R]1259
52794206837 rs771288814 0.000 synonymousTTyr [Y]3257
contig referenceCTyr [Y]3257
52794207836 rs776867988 0.000 missenseTPhe [F]2257
contig referenceATyr [Y]2257
52794210833 rs760032613 0.000 missenseGSer [S]2256
contig referenceAAsn [N]2256
52794211832 rs765720975 0.000byFreq missenseGAsp [D]1256
contig referenceAAsn [N]1256
52794212831 rs1380851039 N.D. synonymousTIle [I]3255
contig referenceCIle [I]3255
52794214829 rs917416026 N.D. missenseGVal [V]1255
contig referenceAIle [I]1255
52794215828 rs1393812488 N.D. missenseGGln [Q]3254
contig referenceCHis [H]3254
52794217826 rs1228970547 N.D. missenseTTyr [Y]1254
contig referenceCHis [H]1254
52794229814 rs1311310701 N.D. missenseGVal [V]1250
contig referenceCLeu [L]1250
52794231812 rs753269386 0.000 missenseTLeu [L]2249
contig referenceCPro [P]2249
52794232811 rs1405376814 N.D. missenseAThr [T]1249
contig referenceCPro [P]1249
52794234809 rs1230601627 N.D. missenseGGly [G]2248
contig referenceAGlu [E]2248
52794237806 rs1272371086 N.D. missenseCPro [P]2247
contig referenceTLeu [L]2247
52794240803 rs906750152 N.D. missenseCThr [T]2246
contig referenceAAsn [N]2246
52794242801 rs762989962 0.000byFreq missenseALys [K]3245
missenseGLys [K]3245
synonymousTAsn [N]3245
contig referenceCAsn [N]3245
52794244799 rs1401689976 N.D. missenseGAsp [D]1245
contig referenceAAsn [N]1245
52794246786 rs745647492 0.000 -3241
52794253790 rs115512783 0.001byClusterbyFreqWith1000GenomeData0.0024 YesmissenseCPro [P]1242
contig referenceTSer [S]1242
52794256787 rs368765001 0.000byClusterbyFreq missenseCLeu [L]1241
contig referenceAIle [I]1241
52794271772 rs76767665 0.002byClusterbyFreqWith1000GenomeData0.0044 missenseGGlu [E]1236
contig referenceCGln [Q]1236
52794275768 rs1181369522 N.D. missenseCHis [H]3234
contig referenceGGln [Q]3234
52794276767 rs1262436059 N.D. missenseTLeu [L]2234
contig referenceAGln [Q]2234
52794277766 rs868037621 N.D. nonsenseT1234
contig referenceCGln [Q]1234
52794278765 rs780972888 0.000 synonymousGLeu [L]3233
contig referenceCLeu [L]3233
52794284759 rs750195996 0.000 synonymousTAsn [N]3231
contig referenceCAsn [N]3231
52794285758 rs756028659 0.000byFreq missenseGSer [S]2231
missenseTIle [I]2231
contig referenceAAsn [N]2231
52794290753 rs749273979 0.000 missenseCAsn [N]3229
contig referenceGLys [K]3229
52794290752 rs1379628144 N.D. frame shift(16bp)Ser [S]2230
contig reference-Trp [W]2230
52794294749 rs768235565 0.000 missenseTIle [I]2228
contig referenceCThr [T]2228
52794296747 rs374170150 0.000byCluster synonymousAGlu [E]3227
contig referenceGGlu [E]3227
52794299744 rs1445267704 N.D. synonymousALeu [L]3226
synonymousCLeu [L]3226
synonymousTLeu [L]3226
contig referenceGLeu [L]3226
52794306737 rs1261849946 N.D. missenseTIle [I]2224
contig referenceALys [K]2224
52794308735 rs200585096 N.D.byClusterWith1000GenomeData missenseALys [K]3223
contig referenceCAsn [N]3223
52794312729 rs758088219 0.000byFreq -3222
52794313730 rs1365362634 N.D. nonsenseT1222
contig referenceCGln [Q]1222
52794317726 rs530075686 0.000byFreqWith1000GenomeData0.0006 synonymousAGlu [E]3220
contig referenceGGlu [E]3220
52794323720 rs771637745 0.000 synonymousTPhe [F]3218
contig referenceCPhe [F]3218
52794327716 rs772977509 0.000byFreq missenseAGln [Q]2217
contig referenceGArg [R]2217
52794328715 rs199929228 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]1217
missenseTTrp [W]1217
contig referenceCArg [R]1217
52794331712 rs367741612 0.000byClusterbyFreq missenseAMet [M]1216
contig referenceGVal [V]1216
52795398711 rs187803154 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousALys [K]3215
contig referenceGLys [K]3215
52795402707 rs1337318070 N.D. missenseCAla [A]2214
contig referenceAAsp [D]2214
52795404705 rs1331442527 N.D. synonymousCIle [I]3213
contig referenceTIle [I]3213
52795409700 rs906826362 N.D. missenseCLeu [L]1212
contig referenceTPhe [F]1212
52795415694 rs1213497845 N.D. missenseTSer [S]1210
contig referenceGAla [A]1210
52795419690 rs924203022 N.D. synonymousALys [K]3208
contig referenceGLys [K]3208
52795420689 rs1452244705 N.D. missenseTMet [M]2208
contig referenceALys [K]2208
52795422687 rs757996259 0.000 missenseALys [K]3207
synonymousTAsn [N]3207
contig referenceCAsn [N]3207
52795425684 rs777260706 0.000 synonymousTAsn [N]3206
contig referenceCAsn [N]3206
52795426683 rs1477927761 N.D. missenseGSer [S]2206
contig referenceAAsn [N]2206
52795433676 rs1264812519 N.D. missenseTSer [S]1204
contig referenceAThr [T]1204
52795434675 rs1204092013 N.D. missenseTAsn [N]3203
contig referenceGLys [K]3203
52795442667 rs200301715 0.000byCluster nonsenseT1201
contig referenceCGln [Q]1201
52795446663 rs368255227 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAArg [R]3199
contig referenceGArg [R]3199
52795447662 rs372506087 0.000byClusterbyFreq missenseAGln [Q]2199
contig referenceGArg [R]2199
52795448661 rs138693059 0.001byClusterbyFreqWith1000GenomeData0.0008 missenseTTrp [W]1199
synonymousAArg [R]1199
contig referenceCArg [R]1199
52795455654 rs868863666 N.D.byCluster synonymousTAla [A]3196
contig referenceCAla [A]3196
52795456653 rs367755618 0.000byCluster missenseGGly [G]2196
contig referenceCAla [A]2196
52795469640 rs761793034 0.000byFreq missenseTTrp [W]1192
contig referenceGGly [G]1192
52795472637 rs1385304176 N.D. missenseTPhe [F]1191
contig referenceAIle [I]1191
52795473636 rs767671394 0.000 missenseCHis [H]3190
contig referenceGGln [Q]3190
52795474634 rs1435541140 N.D. frame shiftCPro [P]1190
contig reference-Gln [Q]1190
52795475634 rs866582694 N.D.byCluster frame shift-Arg [R]1190
contig referenceCGln [Q]1190
52795477632 rs773280213 0.000byCluster missenseTLeu [L]2189
contig referenceCPro [P]2189
52795478631 rs1400428529 N.D. missenseAThr [T]1189
contig referenceCPro [P]1189
52795479630 rs761012956 0.000 missenseAGlu [E]3188
contig referenceCAsp [D]3188
52795480629 rs766215196 0.000 missenseGGly [G]2188
contig referenceAAsp [D]2188
52795481628 rs530962648 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]1188
contig referenceGAsp [D]1188
52795482627 rs369823813 0.001byClusterbyFreqWith1000GenomeData0.0004 synonymousTIle [I]3187
contig referenceCIle [I]3187
52795488621 rs1167378315 N.D. synonymousAVal [V]3185
contig referenceGVal [V]3185
52795489620 rs1230069975 N.D. missenseCAla [A]2185
contig referenceTVal [V]2185
52795492617 rs765083134 0.000 missenseGSer [S]2184
contig referenceAAsn [N]2184
52795493616 rs373468680 0.000byCluster missenseGAsp [D]1184
missenseTTyr [Y]1184
contig referenceAAsn [N]1184
52795498611 rs752720864 0.000byFreq missenseAHis [H]2182
contig referenceCPro [P]2182
52795500609 rs757824527 0.000byFreq missenseTHis [H]3181
contig referenceGGln [Q]3181
52795503605 rs1254339187 N.D. frame shiftCTCys [C]2181
contig reference-Gln [Q]2181
52795505604 rs375736148 0.000byCluster synonymousTLeu [L]1180
contig referenceCLeu [L]1180
52795511598 rs1191097324 N.D. missenseTCys [C]1178
contig referenceASer [S]1178
52795513595 rs747166456 0.000 frame shift-Glu [E]1177
contig referenceCAGln [Q]1177
52795515594 rs1197536748 N.D. synonymousTAsn [N]3176
contig referenceCAsn [N]3176
52795518591 rs1339960465 N.D. synonymousAIle [I]3175
contig referenceCIle [I]3175
52795520589 rs1362840948 N.D. missenseGVal [V]1175
contig referenceAIle [I]1175
52795522587 rs1472865591 N.D. missenseAAsn [N]2174
missenseTIle [I]2174
contig referenceCThr [T]2174
52795526583 rs1246761069 N.D. missenseTLeu [L]1173
contig referenceGVal [V]1173
52795529580 rs897045703 N.D. missenseCGln [Q]1172
contig referenceGGlu [E]1172
52795531578 rs746623368 0.000 missenseCPro [P]2171
contig referenceAGln [Q]2171
52795533576 rs193011168 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGMet [M]3170
contig referenceTIle [I]3170
52795535574 rs780337762 0.000 missenseGVal [V]1170
contig referenceAIle [I]1170
52795540569 rs749636551 0.000byFreq missenseCAla [A]2168
contig referenceGGly [G]2168
52795544565 rs769129039 0.000byFreq missenseTSer [S]1167
contig referenceCPro [P]1167
52795548561 rs1407740538 N.D. synonymousTGly [G]3165
contig referenceCGly [G]3165
52795550559 rs1307699894 N.D. missenseASer [S]1165
contig referenceGGly [G]1165
52795551558 rs896314685 N.D. synonymousAGly [G]3164
synonymousCGly [G]3164
contig referenceGGly [G]3164
52795558551 rs369008679 0.000byCluster missenseTVal [V]2162
contig referenceGGly [G]2162
52795558551 rs1427280134 N.D. frame shift-Ala [A]2162
contig referenceGGly [G]2162
52795559550 rs866052686 N.D. missenseASer [S]1162
contig referenceGGly [G]1162
52795560549 rs1450322520 N.D. synonymousCPhe [F]3161
contig referenceTPhe [F]3161
52795563546 rs373105115 0.000byClusterbyFreq synonymousTGly [G]3160
contig referenceCGly [G]3160
52795569540 rs768932591 0.000 frame shift-Val [V]3159
contig referenceTGly [G]3159
52795570539 rs1229874591 N.D. missenseAHis [H]2158
contig referenceCPro [P]2158
52795573536 rs1012074215 N.D. missenseTIle [I]2157
contig referenceGSer [S]2157
52795576533 rs748734269 0.000 missenseAAsp [D]2156
contig referenceGGly [G]2156