NM_000143.4(FH):c.1108+98C>A
|
rs4659607
|
0.73671
|
NM_000143.4(FH):c.738+265G>A
|
rs11802956
|
0.40494
|
NM_000143.4(FH):c.378+145G>A
|
rs10926500
|
0.40329
|
NM_000143.4(FH):c.1236+233T>C
|
rs2185626
|
0.37539
|
NM_000143.4(FH):c.555+148C>G
|
rs6673988
|
0.34066
|
NM_000143.4(FH):c.1108+109G>A
|
rs4660099
|
0.27390
|
NM_000143.4(FH):c.1302C>T (p.Cys434=)
|
rs2070080
|
0.03163
|
NM_000143.4(FH):c.309C>T (p.Ala103=)
|
rs10926501
|
0.02876
|
NM_000143.4(FH):c.1390+261T>C
|
rs4660098
|
0.02455
|
NM_000143.4(FH):c.904+54G>A
|
rs12065955
|
0.02443
|
NM_000143.4(FH):c.927G>A (p.Pro309=)
|
rs61737760
|
0.02428
|
NM_000143.4(FH):c.268-22A>T
|
rs2275162
|
0.02420
|
NM_000143.4(FH):c.1390+276G>A
|
rs75440584
|
0.02130
|
NM_000143.4(FH):c.132+71C>A
|
rs111416913
|
0.02084
|
NM_000143.4(FH):c.556-281A>T
|
rs116996841
|
0.01939
|
NM_000143.4(FH):c.*221_*222del
|
rs112946286
|
0.01684
|
NM_000143.4(FH):c.904+47G>A
|
rs145209119
|
0.01502
|
NM_000143.4(FH):c.267+235C>T
|
rs143551540
|
0.01112
|
NM_000143.4(FH):c.1108+261C>T
|
rs4659606
|
0.00899
|
NM_000143.3(FH):c.-116G>A
|
rs529496738
|
0.00597
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
NC_000001.11:g.241497425T>C
|
rs184475958
|
0.00595
|
NC_000001.11:g.241497360C>T
|
rs74674708
|
0.00555
|
NM_000143.4(FH):c.1391-158A>T
|
rs116598415
|
0.00486
|
NM_000143.4(FH):c.1236+292T>C
|
rs150089431
|
0.00485
|
NM_000143.4(FH):c.379-214A>G
|
rs137857651
|
0.00412
|
NM_000143.4(FH):c.1391-285A>G
|
rs11809211
|
0.00397
|
NM_000143.4(FH):c.739-240G>A
|
rs191906371
|
0.00321
|
NM_000143.4(FH):c.267+241C>T
|
rs111470473
|
0.00279
|
NM_000143.4(FH):c.555+206A>G
|
rs778970769
|
0.00211
|
NM_000143.4(FH):c.1236+14C>T
|
rs149241949
|
0.00157
|
NM_000143.4(FH):c.1237-18T>A
|
rs202206776
|
0.00128
|
NM_000143.4(FH):c.-11C>T
|
rs200942733
|
0.00113
|
NM_000143.4(FH):c.105G>A (p.Ser35=)
|
rs181655698
|
0.00066
|
NM_000143.4(FH):c.77C>T (p.Pro26Leu)
|
rs187226800
|
0.00051
|
NM_000143.4(FH):c.1299C>T (p.Asn433=)
|
rs201994824
|
0.00047
|
NM_000143.4(FH):c.306G>A (p.Ala102=)
|
rs142283468
|
0.00032
|
NM_000143.4(FH):c.4T>C (p.Tyr2His)
|
rs112335468
|
0.00023
|
NM_000143.4(FH):c.50C>T (p.Ala17Val)
|
rs111548093
|
0.00023
|
NM_000143.4(FH):c.1237-7C>T
|
rs376260223
|
0.00022
|
NM_000143.4(FH):c.7C>G (p.Arg3Gly)
|
rs202166344
|
0.00022
|
NM_000143.4(FH):c.1303G>A (p.Val435Met)
|
rs147528200
|
0.00021
|
NM_000143.4(FH):c.1237-12A>T
|
rs74405673
|
0.00019
|
NM_000143.4(FH):c.883G>A (p.Ala295Thr)
|
rs145843819
|
0.00018
|
NM_000143.4(FH):c.122C>T (p.Ala41Val)
|
rs201486221
|
0.00014
|
NM_000143.4(FH):c.739-10T>C
|
rs201971572
|
0.00013
|
NM_000143.4(FH):c.379-15A>T
|
rs374529177
|
0.00012
|
NM_000143.4(FH):c.132+20C>T
|
rs768086355
|
0.00011
|
NM_000143.4(FH):c.6C>T (p.Tyr2=)
|
rs199971078
|
0.00011
|
NM_000143.4(FH):c.217G>A (p.Val73Met)
|
rs201878591
|
0.00010
|
NM_000143.4(FH):c.33G>C (p.Ser11=)
|
rs200542051
|
0.00010
|
NM_000143.4(FH):c.-10C>T
|
rs998842505
|
0.00006
|
NM_000143.4(FH):c.120C>G (p.Asn40Lys)
|
rs876658186
|
0.00006
|
NM_000143.4(FH):c.12A>G (p.Ala4=)
|
rs201277370
|
0.00006
|
NM_000143.4(FH):c.259C>T (p.Arg87Cys)
|
rs139642944
|
0.00006
|
NM_000143.4(FH):c.35G>T (p.Arg12Leu)
|
rs367826177
|
0.00006
|
NM_000143.4(FH):c.552C>T (p.Ser184=)
|
rs377660762
|
0.00006
|
NM_000143.4(FH):c.759A>G (p.Gln253=)
|
rs147518314
|
0.00006
|
NM_000143.4(FH):c.957C>T (p.Asp319=)
|
rs146751488
|
0.00006
|
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_000143.4(FH):c.1314C>T (p.Ile438=)
|
rs140873869
|
0.00005
|
NM_000143.4(FH):c.399T>C (p.Asn133=)
|
rs376056309
|
0.00005
|
NM_000143.4(FH):c.63C>T (p.Ala21=)
|
rs555404867
|
0.00005
|
NM_000143.4(FH):c.738+19T>C
|
rs200220212
|
0.00005
|
NM_000143.4(FH):c.809A>G (p.Tyr270Cys)
|
rs202060616
|
0.00005
|
NM_000143.4(FH):c.994G>A (p.Ala332Thr)
|
rs1157768121
|
0.00005
|
NM_000143.4(FH):c.-3A>G
|
rs202145941
|
0.00004
|
NM_000143.4(FH):c.1077T>A (p.Pro359=)
|
rs750535216
|
0.00004
|
NM_000143.4(FH):c.1421C>G (p.Thr474Arg)
|
rs369802820
|
0.00004
|
NM_000143.4(FH):c.1482A>G (p.Ala494=)
|
rs201559643
|
0.00004
|
NM_000143.4(FH):c.159A>G (p.Glu53=)
|
rs202056884
|
0.00004
|
NM_000143.4(FH):c.302G>A (p.Arg101Gln)
|
rs75086406
|
0.00004
|
NM_000143.4(FH):c.346A>T (p.Ile116Phe)
|
rs201532589
|
0.00004
|
NM_000143.4(FH):c.435A>G (p.Ser145=)
|
rs771373271
|
0.00004
|
NM_000143.4(FH):c.540T>C (p.His180=)
|
rs766280573
|
0.00004
|
NM_000143.4(FH):c.556-4A>G
|
rs370229813
|
0.00004
|
NM_000143.4(FH):c.580G>A (p.Ala194Thr)
|
rs587782215
|
0.00004
|
NM_000143.4(FH):c.917T>C (p.Val306Ala)
|
rs147991516
|
0.00004
|
NM_000143.4(FH):c.1462G>A (p.Glu488Lys)
|
rs201115573
|
0.00003
|
NM_000143.4(FH):c.207C>T (p.Gly69=)
|
rs370392829
|
0.00003
|
NM_000143.4(FH):c.305C>T (p.Ala102Val)
|
rs61753295
|
0.00003
|
NM_000143.4(FH):c.312T>C (p.Ala104=)
|
rs1311053776
|
0.00003
|
NM_000143.4(FH):c.37C>A (p.Pro13Thr)
|
rs587778360
|
0.00003
|
NM_000143.4(FH):c.40C>T (p.Leu14Phe)
|
rs981562354
|
0.00003
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000143.4(FH):c.616G>A (p.Val206Ile)
|
rs763183520
|
0.00003
|
NM_000143.4(FH):c.685A>G (p.Ile229Val)
|
rs764065194
|
0.00003
|
NM_000143.4(FH):c.698G>A (p.Arg233His)
|
rs121913123
|
0.00003
|
NM_000143.4(FH):c.738+14A>G
|
rs765629644
|
0.00003
|
NM_000143.4(FH):c.1049G>A (p.Arg350Gln)
|
rs749316923
|
0.00002
|
NM_000143.4(FH):c.1138A>G (p.Met380Val)
|
rs587778362
|
0.00002
|
NM_000143.4(FH):c.116C>T (p.Pro39Leu)
|
rs1415259326
|
0.00002
|
NM_000143.4(FH):c.1283T>C (p.Val428Ala)
|
rs201644919
|
0.00002
|
NM_000143.4(FH):c.132+19C>T
|
rs1246848606
|
0.00002
|
NM_000143.4(FH):c.1428C>T (p.His476=)
|
rs199887605
|
0.00002
|
NM_000143.4(FH):c.260G>A (p.Arg87His)
|
rs200007371
|
0.00002
|
NM_000143.4(FH):c.270C>T (p.Thr90=)
|
rs748852152
|
0.00002
|
NM_000143.4(FH):c.27G>A (p.Ala9=)
|
rs983362570
|
0.00002
|
NM_000143.4(FH):c.2T>G (p.Met1Arg)
|
rs201261794
|
0.00002
|
NM_000143.4(FH):c.340C>A (p.Pro114Thr)
|
rs199539887
|
0.00002
|
NM_000143.4(FH):c.352A>G (p.Asn118Asp)
|
rs200738857
|
0.00002
|
NM_000143.4(FH):c.358A>G (p.Ile120Val)
|
rs199641124
|
0.00002
|
NM_000143.4(FH):c.451A>T (p.Met151Leu)
|
rs749752047
|
0.00002
|
NM_000143.4(FH):c.555+11G>A
|
rs768253079
|
0.00002
|
NM_000143.4(FH):c.65T>G (p.Leu22Ter)
|
rs1031919395
|
0.00002
|
NM_000143.4(FH):c.664T>A (p.Ser222Thr)
|
rs1448268784
|
0.00002
|
NM_000143.4(FH):c.702T>G (p.Thr234=)
|
rs201083387
|
0.00002
|
NM_000143.4(FH):c.739-15T>G
|
rs746109501
|
0.00002
|
NM_000143.4(FH):c.772G>A (p.Ala258Thr)
|
rs751210164
|
0.00002
|
NM_000143.4(FH):c.797T>C (p.Met266Thr)
|
rs764648497
|
0.00002
|
NM_000143.4(FH):c.894T>C (p.Ala298=)
|
rs372099505
|
0.00002
|
NM_000143.4(FH):c.904+13G>A
|
rs572806212
|
0.00002
|
NM_000143.4(FH):c.925C>T (p.Pro309Ser)
|
rs368849989
|
0.00002
|
NM_000143.4(FH):c.926C>T (p.Pro309Leu)
|
rs756528378
|
0.00002
|
NM_000143.4(FH):c.*5C>T
|
rs777344869
|
0.00001
|
NM_000143.4(FH):c.1003C>T (p.Leu335=)
|
rs1203364199
|
0.00001
|
NM_000143.4(FH):c.101C>T (p.Pro34Leu)
|
rs1398860901
|
0.00001
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.1028G>A (p.Arg343Gln)
|
rs756990249
|
0.00001
|
NM_000143.4(FH):c.1041T>C (p.Ser347=)
|
rs748482867
|
0.00001
|
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)
|
rs755436052
|
0.00001
|
NM_000143.4(FH):c.104C>G (p.Ser35Trp)
|
rs942065027
|
0.00001
|
NM_000143.4(FH):c.104C>T (p.Ser35Leu)
|
rs942065027
|
0.00001
|
NM_000143.4(FH):c.1056T>C (p.Gly352=)
|
rs758440879
|
0.00001
|
NM_000143.4(FH):c.1088C>G (p.Pro363Arg)
|
rs1483975363
|
0.00001
|
NM_000143.4(FH):c.1108+7A>G
|
rs765397179
|
0.00001
|
NM_000143.4(FH):c.1109-7C>T
|
rs1060504079
|
0.00001
|
NM_000143.4(FH):c.1128G>T (p.Gln376His)
|
rs1467002768
|
0.00001
|
NM_000143.4(FH):c.1167G>A (p.Gly389=)
|
rs778969674
|
0.00001
|
NM_000143.4(FH):c.1173T>C (p.His391=)
|
rs199638673
|
0.00001
|
NM_000143.4(FH):c.1184C>T (p.Thr395Ile)
|
rs878853690
|
0.00001
|
NM_000143.4(FH):c.1188C>T (p.Val396=)
|
rs1202174276
|
0.00001
|
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)
|
rs863224007
|
0.00001
|
NM_000143.4(FH):c.1195A>G (p.Ser399Gly)
|
rs1372936109
|
0.00001
|
NM_000143.4(FH):c.1199A>G (p.Asn400Ser)
|
rs764430466
|
0.00001
|
NM_000143.4(FH):c.1204C>T (p.His402Tyr)
|
rs760360724
|
0.00001
|
NM_000143.4(FH):c.1227G>A (p.Lys409=)
|
rs774493741
|
0.00001
|
NM_000143.4(FH):c.1231A>G (p.Met411Val)
|
rs201381362
|
0.00001
|
NM_000143.4(FH):c.1236+5G>A
|
rs374494513
|
0.00001
|
NM_000143.4(FH):c.1237-9C>T
|
rs767413280
|
0.00001
|
NM_000143.4(FH):c.1254C>T (p.His418=)
|
rs1659748455
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000143.4(FH):c.1259C>T (p.Ala420Val)
|
rs766377516
|
0.00001
|
NM_000143.4(FH):c.127C>G (p.Arg43Gly)
|
rs200496951
|
0.00001
|
NM_000143.4(FH):c.1291A>G (p.Thr431Ala)
|
rs1315943292
|
0.00001
|
NM_000143.4(FH):c.1293A>G (p.Thr431=)
|
rs772800627
|
0.00001
|
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)
|
rs398123164
|
0.00001
|
NM_000143.4(FH):c.1308G>A (p.Val436=)
|
rs201535626
|
0.00001
|
NM_000143.4(FH):c.132+13C>A
|
rs1415517940
|
0.00001
|
NM_000143.4(FH):c.133-3T>C
|
rs1553341989
|
0.00001
|
NM_000143.4(FH):c.1338C>T (p.Asn446=)
|
rs113572177
|
0.00001
|
NM_000143.4(FH):c.1341G>A (p.Lys447=)
|
rs748363858
|
0.00001
|
NM_000143.4(FH):c.1347G>C (p.Met449Ile)
|
rs376502356
|
0.00001
|
NM_000143.4(FH):c.1348A>C (p.Asn450His)
|
rs1659742832
|
0.00001
|
NM_000143.4(FH):c.1390+6T>A
|
rs1338650106
|
0.00001
|
NM_000143.4(FH):c.1391-11T>C
|
rs1659668830
|
0.00001
|
NM_000143.4(FH):c.1391-15T>C
|
rs756731681
|
0.00001
|
NM_000143.4(FH):c.1391-4T>C
|
rs760376174
|
0.00001
|
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)
|
rs863224010
|
0.00001
|
NM_000143.4(FH):c.1401G>A (p.Lys467=)
|
rs1464951563
|
0.00001
|
NM_000143.4(FH):c.1405G>A (p.Ala469Thr)
|
rs1060500906
|
0.00001
|
NM_000143.4(FH):c.1408A>G (p.Lys470Glu)
|
rs922905323
|
0.00001
|
NM_000143.4(FH):c.1426C>T (p.His476Tyr)
|
rs1484545927
|
0.00001
|
NM_000143.4(FH):c.1433A>G (p.Asn478Ser)
|
rs201886827
|
0.00001
|
NM_000143.4(FH):c.1434T>C (p.Asn478=)
|
rs786202199
|
0.00001
|
NM_000143.4(FH):c.1441A>G (p.Thr481Ala)
|
rs1261707355
|
0.00001
|
NM_000143.4(FH):c.1443C>G (p.Thr481=)
|
rs780200136
|
0.00001
|
NM_000143.4(FH):c.1447A>C (p.Lys483Gln)
|
rs1017406473
|
0.00001
|
NM_000143.4(FH):c.1461C>T (p.Ile487=)
|
rs377091029
|
0.00001
|
NM_000143.4(FH):c.1470C>T (p.Gly490=)
|
rs137969374
|
0.00001
|
NM_000143.4(FH):c.1471T>C (p.Tyr491His)
|
rs749713004
|
0.00001
|
NM_000143.4(FH):c.1472A>G (p.Tyr491Cys)
|
rs773801940
|
0.00001
|
NM_000143.4(FH):c.1477A>G (p.Thr493Ala)
|
rs777256203
|
0.00001
|
NM_000143.4(FH):c.1479A>G (p.Thr493=)
|
rs755633330
|
0.00001
|
NM_000143.4(FH):c.1494C>T (p.Asp498=)
|
rs199949526
|
0.00001
|
NM_000143.4(FH):c.1501G>A (p.Val501Ile)
|
rs201893992
|
0.00001
|
NM_000143.4(FH):c.1503A>G (p.Val501=)
|
rs1553340502
|
0.00001
|
NM_000143.4(FH):c.151C>T (p.Arg51Trp)
|
rs778678782
|
0.00001
|
NM_000143.4(FH):c.153G>A (p.Arg51=)
|
rs757002779
|
0.00001
|
NM_000143.4(FH):c.154A>T (p.Ile52Leu)
|
rs543844061
|
0.00001
|
NM_000143.4(FH):c.167C>G (p.Thr56Ser)
|
rs1433872618
|
0.00001
|
NM_000143.4(FH):c.178C>T (p.Leu60=)
|
rs201146499
|
0.00001
|
NM_000143.4(FH):c.184G>A (p.Val62Met)
|
rs199894369
|
0.00001
|
NM_000143.4(FH):c.190A>G (p.Asn64Asp)
|
rs886046319
|
0.00001
|
NM_000143.4(FH):c.193G>A (p.Asp65Asn)
|
rs769956664
|
0.00001
|
NM_000143.4(FH):c.194A>G (p.Asp65Gly)
|
rs145116688
|
0.00001
|
NM_000143.4(FH):c.1A>G (p.Met1Val)
|
rs776806414
|
0.00001
|
NM_000143.4(FH):c.203A>G (p.Tyr68Cys)
|
rs1472397242
|
0.00001
|
NM_000143.4(FH):c.208G>A (p.Ala70Thr)
|
rs587782207
|
0.00001
|
NM_000143.4(FH):c.210C>T (p.Ala70=)
|
rs1573888428
|
0.00001
|
NM_000143.4(FH):c.219G>A (p.Val73=)
|
rs1213056420
|
0.00001
|
NM_000143.4(FH):c.222A>T (p.Arg74Ser)
|
rs146739519
|
0.00001
|
NM_000143.4(FH):c.227C>T (p.Thr76Met)
|
rs778578307
|
0.00001
|
NM_000143.4(FH):c.230T>C (p.Met77Thr)
|
rs1250096728
|
0.00001
|
NM_000143.4(FH):c.267+8G>A
|
rs750447887
|
0.00001
|
NM_000143.4(FH):c.267A>G (p.Pro89=)
|
rs1060500897
|
0.00001
|
NM_000143.4(FH):c.26C>G (p.Ala9Gly)
|
rs766915154
|
0.00001
|
NM_000143.4(FH):c.271C>G (p.Pro91Ala)
|
rs1171873052
|
0.00001
|
NM_000143.4(FH):c.28C>T (p.Arg10Cys)
|
rs201507555
|
0.00001
|
NM_000143.4(FH):c.292A>G (p.Ile98Val)
|
rs1660147766
|
0.00001
|
NM_000143.4(FH):c.294C>G (p.Ile98Met)
|
rs1573886484
|
0.00001
|
NM_000143.4(FH):c.301C>T (p.Arg101Ter)
|
rs121913120
|
0.00001
|
NM_000143.4(FH):c.317T>C (p.Val106Ala)
|
rs1382226356
|
0.00001
|
NM_000143.4(FH):c.31T>C (p.Ser11Pro)
|
rs1660323255
|
0.00001
|
NM_000143.4(FH):c.327T>G (p.Asp109Glu)
|
rs757312078
|
0.00001
|
NM_000143.4(FH):c.330T>C (p.Tyr110=)
|
rs753962693
|
0.00001
|
NM_000143.4(FH):c.332G>A (p.Gly111Asp)
|
rs764340490
|
0.00001
|
NM_000143.4(FH):c.34C>T (p.Arg12Cys)
|
rs199912971
|
0.00001
|
NM_000143.4(FH):c.375T>C (p.Asp125=)
|
rs964339220
|
0.00001
|
NM_000143.4(FH):c.378+10G>A
|
rs771031726
|
0.00001
|
NM_000143.4(FH):c.378+15G>A
|
rs748766342
|
0.00001
|
NM_000143.4(FH):c.405T>G (p.His135Gln)
|
rs1298815479
|
0.00001
|
NM_000143.4(FH):c.412C>G (p.Leu138Val)
|
rs1466082062
|
0.00001
|
NM_000143.4(FH):c.414C>T (p.Leu138=)
|
rs540968725
|
0.00001
|
NM_000143.4(FH):c.415G>A (p.Val139Met)
|
rs200343823
|
0.00001
|
NM_000143.4(FH):c.417G>A (p.Val139=)
|
rs768341401
|
0.00001
|
NM_000143.4(FH):c.41T>C (p.Leu14Pro)
|
rs1553342163
|
0.00001
|
NM_000143.4(FH):c.424C>G (p.Gln142Glu)
|
rs1355199594
|
0.00001
|
NM_000143.4(FH):c.42C>A (p.Leu14=)
|
rs1660322230
|
0.00001
|
NM_000143.4(FH):c.431G>A (p.Gly144Glu)
|
rs1057521425
|
0.00001
|
NM_000143.4(FH):c.43G>T (p.Val15Leu)
|
rs1463008959
|
0.00001
|
NM_000143.4(FH):c.444G>A (p.Gln148=)
|
rs928534157
|
0.00001
|
NM_000143.4(FH):c.456T>C (p.Asn152=)
|
rs876658403
|
0.00001
|
NM_000143.4(FH):c.460A>C (p.Asn154His)
|
rs1660099016
|
0.00001
|
NM_000143.4(FH):c.468C>A (p.Val156=)
|
rs202061330
|
0.00001
|
NM_000143.4(FH):c.46C>T (p.Arg16Trp)
|
rs1324875131
|
0.00001
|
NM_000143.4(FH):c.48G>T (p.Arg16=)
|
rs1468361143
|
0.00001
|
NM_000143.4(FH):c.492G>C (p.Met164Ile)
|
rs1370195868
|
0.00001
|
NM_000143.4(FH):c.49G>C (p.Ala17Pro)
|
rs755886213
|
0.00001
|
NM_000143.4(FH):c.514A>G (p.Lys172Glu)
|
rs201154463
|
0.00001
|
NM_000143.4(FH):c.534C>T (p.Asn178=)
|
rs375878939
|
0.00001
|
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)
|
rs768182640
|
0.00001
|
NM_000143.4(FH):c.555+17T>C
|
rs201109559
|
0.00001
|
NM_000143.4(FH):c.556-12A>C
|
rs1282569432
|
0.00001
|
NM_000143.4(FH):c.556-5A>G
|
rs1060500892
|
0.00001
|
NM_000143.4(FH):c.560C>G (p.Ser187Ter)
|
rs398123166
|
0.00001
|
NM_000143.4(FH):c.583A>G (p.Met195Val)
|
rs1553341364
|
0.00001
|
NM_000143.4(FH):c.589A>G (p.Ile197Val)
|
rs201764931
|
0.00001
|
NM_000143.4(FH):c.58G>A (p.Ala20Thr)
|
rs572324497
|
0.00001
|
NM_000143.4(FH):c.5A>G (p.Tyr2Cys)
|
rs1553342167
|
0.00001
|
NM_000143.4(FH):c.611A>T (p.His204Leu)
|
rs1060500898
|
0.00001
|
NM_000143.4(FH):c.615A>G (p.Glu205=)
|
rs1474356587
|
0.00001
|
NM_000143.4(FH):c.628G>A (p.Gly210Arg)
|
rs949267641
|
0.00001
|
NM_000143.4(FH):c.62C>G (p.Ala21Gly)
|
rs1131691251
|
0.00001
|
NM_000143.4(FH):c.639G>A (p.Lys213=)
|
rs377222193
|
0.00001
|
NM_000143.4(FH):c.648T>A (p.Asp216Glu)
|
rs199536615
|
0.00001
|
NM_000143.4(FH):c.655G>A (p.Asp219Asn)
|
rs11545656
|
0.00001
|
NM_000143.4(FH):c.658G>A (p.Ala220Thr)
|
rs747135440
|
0.00001
|
NM_000143.4(FH):c.684C>T (p.Ile228=)
|
rs1384151924
|
0.00001
|
NM_000143.4(FH):c.697C>T (p.Arg233Cys)
|
rs587781682
|
0.00001
|
NM_000143.4(FH):c.700A>G (p.Thr234Ala)
|
rs372505976
|
0.00001
|
NM_000143.4(FH):c.720T>C (p.Val240=)
|
rs1228594697
|
0.00001
|
NM_000143.4(FH):c.73G>A (p.Ala25Thr)
|
rs999146815
|
0.00001
|
NM_000143.4(FH):c.763G>A (p.Val255Ile)
|
rs752144845
|
0.00001
|
NM_000143.4(FH):c.765A>G (p.Val255=)
|
rs200965107
|
0.00001
|
NM_000143.4(FH):c.771T>C (p.Tyr257=)
|
rs199909758
|
0.00001
|
NM_000143.4(FH):c.775A>G (p.Met259Val)
|
rs1343775223
|
0.00001
|
NM_000143.4(FH):c.776T>C (p.Met259Thr)
|
rs1407485828
|
0.00001
|
NM_000143.4(FH):c.784A>G (p.Ile262Val)
|
rs199829765
|
0.00001
|
NM_000143.4(FH):c.788A>C (p.Lys263Thr)
|
rs765997824
|
0.00001
|
NM_000143.4(FH):c.792T>C (p.Ala264=)
|
rs368234566
|
0.00001
|
NM_000143.4(FH):c.800C>T (p.Pro267Leu)
|
rs1415140301
|
0.00001
|
NM_000143.4(FH):c.805A>G (p.Ile269Val)
|
rs377015873
|
0.00001
|
NM_000143.4(FH):c.80G>C (p.Gly27Ala)
|
rs1339215584
|
0.00001
|
NM_000143.4(FH):c.816C>T (p.Leu272=)
|
rs775368701
|
0.00001
|
NM_000143.4(FH):c.817G>A (p.Ala273Thr)
|
rs772190176
|
0.00001
|
NM_000143.4(FH):c.81C>T (p.Gly27=)
|
rs1206696042
|
0.00001
|
NM_000143.4(FH):c.830C>G (p.Thr277Ser)
|
rs1553341160
|
0.00001
|
NM_000143.4(FH):c.853A>G (p.Thr285Ala)
|
rs200791185
|
0.00001
|
NM_000143.4(FH):c.889G>A (p.Val297Met)
|
rs1245254230
|
0.00001
|
NM_000143.4(FH):c.904+12C>T
|
rs781047980
|
0.00001
|
NM_000143.4(FH):c.904+8A>G
|
rs1311166590
|
0.00001
|
NM_000143.4(FH):c.908T>C (p.Leu303Ser)
|
rs201502246
|
0.00001
|
NM_000143.4(FH):c.909G>C (p.Leu303Phe)
|
rs1659857850
|
0.00001
|
NM_000143.4(FH):c.90C>A (p.Gly30=)
|
rs1262096783
|
0.00001
|
NM_000143.4(FH):c.90C>T (p.Gly30=)
|
rs1262096783
|
0.00001
|
NM_000143.4(FH):c.914T>C (p.Phe305Ser)
|
rs1439046582
|
0.00001
|
NM_000143.4(FH):c.923C>G (p.Ala308Gly)
|
rs1057524385
|
0.00001
|
NM_000143.4(FH):c.961C>G (p.Leu321Val)
|
rs763077972
|
0.00001
|
NM_000143.4(FH):c.96C>A (p.Ala32=)
|
rs750087000
|
0.00001
|
NM_000143.4(FH):c.974G>C (p.Ser325Thr)
|
rs1423324601
|
0.00001
|
NM_000143.4(FH):c.986A>G (p.Asn329Ser)
|
rs768483509
|
0.00001
|
NM_000143.4(FH):c.987C>T (p.Asn329=)
|
rs1049719
|
0.00001
|
NM_000143.4(FH):c.98T>G (p.Val33Gly)
|
rs1319755767
|
0.00001
|
NM_000143.4(FH):c.993T>C (p.Thr331=)
|
rs757921798
|
0.00001
|
NM_000143.4(FH):c.9A>C (p.Arg3=)
|
rs941921568
|
0.00001
|
NC_000001.10:g.(?_241661128)_(241661280_?)del
|
|
|
NC_000001.10:g.(?_241661128)_(241667555_?)del
|
|
|
NC_000001.10:g.(?_241661128)_(241667555_?)dup
|
|
|
NC_000001.10:g.(?_241661128)_(241677023_?)dup
|
|
|
NC_000001.10:g.(?_241663727)_(241663900_?)del
|
|
|
NC_000001.10:g.(?_241665733)_(241667555_?)del
|
|
|
NC_000001.10:g.(?_241669293)_(241683022_?)dup
|
|
|
NC_000001.10:g.(?_241677041)_(241680477_?)del
|
|
|
NC_000001.10:g.(?_241680472)_(241683022_?)del
|
|
|
NC_000001.10:g.(?_241682881)_(241683022_?)del
|
|
|
NC_000001.11:g.(?_241497818)_(241502580_?)del
|
|
|
NC_000001.11:g.(?_241497818)_(241512153_?)del
|
|
|
NC_000001.11:g.(?_241505993)_(241506178_?)del
|
|
|
NC_000001.11:g.(?_241508593)_(241513723_?)del
|
|
|
NC_000001.11:g.(?_241517172)_(241519722_?)dup
|
|
|
NC_000001.11:g.241497346CA[7]
|
rs34516025
|
|
NC_000001.11:g.241497971del
|
rs2147911365
|
|
NM_000143.3(FH):c.556_557delAG
|
rs1131691235
|
|
NM_000143.3(FH):c.695G>A (p.Gly232Glu)
|
rs727503929
|
|
NM_000143.4(FH):c.1000A>C (p.Ser334Arg)
|
rs587782216
|
|
NM_000143.4(FH):c.1000A>G (p.Ser334Gly)
|
rs587782216
|
|
NM_000143.4(FH):c.1000dup (p.Ser334fs)
|
rs1659853029
|
|
NM_000143.4(FH):c.1002T>C (p.Ser334=)
|
rs2147916185
|
|
NM_000143.4(FH):c.1003C>G (p.Leu335Val)
|
rs1203364199
|
|
NM_000143.4(FH):c.100C>T (p.Pro34Ser)
|
rs1191023697
|
|
NM_000143.4(FH):c.1012A>C (p.Ile338Leu)
|
|
|
NM_000143.4(FH):c.1013T>C (p.Ile338Thr)
|
rs201975537
|
|
NM_000143.4(FH):c.1014A>G (p.Ile338Met)
|
|
|
NM_000143.4(FH):c.1015_1024delinsT (p.Ala339_Ile342delinsPhe)
|
|
|
NM_000143.4(FH):c.1015del (p.Ala339fs)
|
|
|
NM_000143.4(FH):c.1016C>A (p.Ala339Glu)
|
rs1659852423
|
|
NM_000143.4(FH):c.1016C>T (p.Ala339Val)
|
rs1659852423
|
|
NM_000143.4(FH):c.1019del (p.Asn340fs)
|
|
|
NM_000143.4(FH):c.1020T>C (p.Asn340=)
|
|
|
NM_000143.4(FH):c.1021G>A (p.Asp341Asn)
|
rs11545655
|
|
NM_000143.4(FH):c.1022A>G (p.Asp341Gly)
|
rs1060499640
|
|
NM_000143.4(FH):c.1023T>C (p.Asp341=)
|
rs863223973
|
|
NM_000143.4(FH):c.1023T>G (p.Asp341Glu)
|
rs863223973
|
|
NM_000143.4(FH):c.1025T>C (p.Ile342Thr)
|
rs201383596
|
|
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)
|
rs121913122
|
|
NM_000143.4(FH):c.1028G>C (p.Arg343Pro)
|
rs756990249
|
|
NM_000143.4(FH):c.1028del (p.Arg343fs)
|
rs1553341026
|
|
NM_000143.4(FH):c.102C>A (p.Pro34=)
|
|
|
NM_000143.4(FH):c.102_120del (p.Ser35fs)
|
rs2147926843
|
|
NM_000143.4(FH):c.102del (p.Ser35fs)
|
rs2147926893
|
|
NM_000143.4(FH):c.102dup (p.Ser35fs)
|
|
|
NM_000143.4(FH):c.1030T>G (p.Phe344Val)
|
rs2147916143
|
|
NM_000143.4(FH):c.1035G>A (p.Leu345=)
|
rs1558397757
|
|
NM_000143.4(FH):c.1036G>A (p.Gly346Ser)
|
rs1553341024
|
|
NM_000143.4(FH):c.1037G>A (p.Gly346Asp)
|
rs2147916135
|
|
NM_000143.4(FH):c.1039T>C (p.Ser347Pro)
|
|
|
NM_000143.4(FH):c.103T>C (p.Ser35Pro)
|
rs1573889890
|
|
NM_000143.4(FH):c.1040C>T (p.Ser347Phe)
|
rs1573880377
|
|
NM_000143.4(FH):c.1041del (p.Gly348fs)
|
rs1060499641
|
|
NM_000143.4(FH):c.1046C>G (p.Pro349Arg)
|
rs1553341017
|
|
NM_000143.4(FH):c.1051T>A (p.Ser351Thr)
|
rs766918221
|
|
NM_000143.4(FH):c.1051T>G (p.Ser351Ala)
|
rs766918221
|
|
NM_000143.4(FH):c.1052C>A (p.Ser351Ter)
|
rs1060500896
|
|
NM_000143.4(FH):c.1052C>G (p.Ser351Ter)
|
rs1060500896
|
|
NM_000143.4(FH):c.1055G>A (p.Gly352Asp)
|
rs1659850534
|
|
NM_000143.4(FH):c.1056dup (p.Leu353fs)
|
rs863224016
|
|
NM_000143.4(FH):c.1058T>C (p.Leu353Pro)
|
|
|
NM_000143.4(FH):c.1058_1108+19del
|
|
|
NM_000143.4(FH):c.105G>C (p.Ser35=)
|
rs181655698
|
|
NM_000143.4(FH):c.105G>T (p.Ser35=)
|
|
|
NM_000143.4(FH):c.1061G>A (p.Gly354Glu)
|
rs1057523184
|
|
NM_000143.4(FH):c.1061G>C (p.Gly354Ala)
|
rs1057523184
|
|
NM_000143.4(FH):c.1063G>A (p.Glu355Lys)
|
|
|
NM_000143.4(FH):c.1063G>T (p.Glu355Ter)
|
rs1060499642
|
|
NM_000143.4(FH):c.1066T>C (p.Leu356=)
|
rs1157405003
|
|
NM_000143.4(FH):c.1067T>A (p.Leu356Ter)
|
rs727503927
|
|
NM_000143.4(FH):c.1067T>C (p.Leu356Ser)
|
|
|
NM_000143.4(FH):c.1068_1069delinsAC (p.Ile357Leu)
|
rs2147916070
|
|
NM_000143.4(FH):c.1069A>G (p.Ile357Val)
|
rs1027877625
|
|
NM_000143.4(FH):c.1070T>C (p.Ile357Thr)
|
rs1388251431
|
|
NM_000143.4(FH):c.1071C>A (p.Ile357=)
|
rs1391140770
|
|
NM_000143.4(FH):c.1071C>G (p.Ile357Met)
|
rs1391140770
|
|
NM_000143.4(FH):c.1071C>T (p.Ile357=)
|
rs1391140770
|
|
NM_000143.4(FH):c.1072T>C (p.Leu358=)
|
rs918902822
|
|
NM_000143.4(FH):c.1083T>G (p.Asn361Lys)
|
rs1659849280
|
|
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)
|
rs756469140
|
|
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)
|
rs121913119
|
|
NM_000143.4(FH):c.1086A>G (p.Glu362=)
|
rs1553341008
|
|
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)
|
rs863223966
|
|
NM_000143.4(FH):c.1094G>A (p.Ser365Asn)
|
rs1131691238
|
|
NM_000143.4(FH):c.1097G>A (p.Ser366Asn)
|
rs863224004
|
|
NM_000143.4(FH):c.1098T>C (p.Ser366=)
|
rs2147916028
|
|
NM_000143.4(FH):c.109del (p.Trp37fs)
|
rs2147926875
|
|
NM_000143.4(FH):c.10G>A (p.Ala4Thr)
|
rs1573890047
|
|
NM_000143.4(FH):c.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu)
|
rs863223987
|
|
NM_000143.4(FH):c.1105C>T (p.Pro369Ser)
|
|
|
NM_000143.4(FH):c.1108+10T>A
|
rs201513242
|
|
NM_000143.4(FH):c.1108+16G>T
|
|
|
NM_000143.4(FH):c.1108+18A>G
|
rs2147915986
|
|
NM_000143.4(FH):c.1108+19A>G
|
|
|
NM_000143.4(FH):c.1108+1G>A
|
rs1057517734
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000143.4(FH):c.1108+3A>G
|
rs200118475
|
|
NM_000143.4(FH):c.1108+8C>A
|
|
|
NM_000143.4(FH):c.1108+9A>T
|
|
|
NM_000143.4(FH):c.1108G>C (p.Gly370Arg)
|
rs1659848371
|
|
NM_000143.4(FH):c.1109-12G>A
|
|
|
NM_000143.4(FH):c.1109-15G>A
|
rs2147915063
|
|
NM_000143.4(FH):c.1109-15G>T
|
rs2147915063
|
|
NM_000143.4(FH):c.1109-19A>C
|
|
|
NM_000143.4(FH):c.1109-19A>G
|
rs2147915066
|
|
NM_000143.4(FH):c.1109-1G>C
|
rs1298313966
|
|
NM_000143.4(FH):c.1109-20C>T
|
rs2147915068
|
|
NM_000143.4(FH):c.1109-3A>G
|
rs1659810726
|
|
NM_000143.4(FH):c.1109-3A>T
|
|
|
NM_000143.4(FH):c.1109-4G>A
|
rs959933221
|
|
NM_000143.4(FH):c.1109-4G>C
|
|
|
NM_000143.4(FH):c.1109G>A (p.Gly370Asp)
|
rs1553340894
|
|
NM_000143.4(FH):c.110G>C (p.Trp37Ser)
|
rs1660318244
|
|
NM_000143.4(FH):c.1112del (p.Lys371fs)
|
rs1060500904
|
|
NM_000143.4(FH):c.1117A>G (p.Asn373Asp)
|
|
|
NM_000143.4(FH):c.1117_1119del (p.Asn373del)
|
rs1553340884
|
|
NM_000143.4(FH):c.1118A>G (p.Asn373Ser)
|
rs1060499643
|
|
NM_000143.4(FH):c.1119C>A (p.Asn373Lys)
|
rs542014575
|
|
NM_000143.4(FH):c.1119C>T (p.Asn373=)
|
rs542014575
|
|
NM_000143.4(FH):c.1122T>C (p.Pro374=)
|
|
|
NM_000143.4(FH):c.1123A>G (p.Thr375Ala)
|
rs1573879366
|
|
NM_000143.4(FH):c.1124C>T (p.Thr375Ile)
|
rs1659809804
|
|
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)
|
rs398123160
|
|
NM_000143.4(FH):c.1128G>A (p.Gln376=)
|
|
|
NM_000143.4(FH):c.1129T>C (p.Cys377Arg)
|
rs398123161
|
|
NM_000143.4(FH):c.112C>T (p.Pro38Ser)
|
|
|
NM_000143.4(FH):c.1134A>G (p.Glu378=)
|
|
|
NM_000143.4(FH):c.1136C>A (p.Ala379Glu)
|
rs2147914999
|
|
NM_000143.4(FH):c.1137A>G (p.Ala379=)
|
|
|
NM_000143.4(FH):c.1138del (p.Ala379_Met380insTer)
|
rs781466938
|
|
NM_000143.4(FH):c.1138dup (p.Met380fs)
|
rs781466938
|
|
NM_000143.4(FH):c.1139_1142del (p.Met380fs)
|
rs863223988
|
|
NM_000143.4(FH):c.113C>T (p.Pro38Leu)
|
rs2147926864
|
|
NM_000143.4(FH):c.1144A>G (p.Met382Val)
|
rs886039365
|
|
NM_000143.4(FH):c.1145T>C (p.Met382Thr)
|
rs2147914987
|
|
NM_000143.4(FH):c.1146G>A (p.Met382Ile)
|
rs863224006
|
|
NM_000143.4(FH):c.1147G>C (p.Val383Leu)
|
rs2147914983
|
|
NM_000143.4(FH):c.1148T>C (p.Val383Ala)
|
|
|
NM_000143.4(FH):c.1149T>G (p.Val383=)
|
rs2147914979
|
|
NM_000143.4(FH):c.114T>C (p.Pro38=)
|
rs2147926861
|
|
NM_000143.4(FH):c.1151C>T (p.Ala384Val)
|
rs904463039
|
|
NM_000143.4(FH):c.1152A>C (p.Ala384=)
|
rs2147914968
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1155C>T (p.Ala385=)
|
|
|
NM_000143.4(FH):c.1156C>A (p.Gln386Lys)
|
|
|
NM_000143.4(FH):c.1156C>G (p.Gln386Glu)
|
rs2147914963
|
|
NM_000143.4(FH):c.1156C>T (p.Gln386Ter)
|
|
|
NM_000143.4(FH):c.1157A>G (p.Gln386Arg)
|
rs750447792
|
|
NM_000143.4(FH):c.1158A>C (p.Gln386His)
|
rs2147914951
|
|
NM_000143.4(FH):c.115C>T (p.Pro39Ser)
|
rs2147926857
|
|
NM_000143.4(FH):c.1161C>T (p.Val387=)
|
|
|
NM_000143.4(FH):c.1162A>G (p.Met388Val)
|
rs1573879331
|
|
NM_000143.4(FH):c.1162A>T (p.Met388Leu)
|
|
|
NM_000143.4(FH):c.1163T>C (p.Met388Thr)
|
rs876660830
|
|
NM_000143.4(FH):c.1163T>G (p.Met388Arg)
|
rs876660830
|
|
NM_000143.4(FH):c.1167del (p.Asn390fs)
|
|
|
NM_000143.4(FH):c.1169A>G (p.Asn390Ser)
|
rs1178007598
|
|
NM_000143.4(FH):c.1170C>A (p.Asn390Lys)
|
rs1659806898
|
|
NM_000143.4(FH):c.1170C>G (p.Asn390Lys)
|
rs1659806898
|
|
NM_000143.4(FH):c.1171C>T (p.His391Tyr)
|
|
|
NM_000143.4(FH):c.1172A>C (p.His391Pro)
|
rs1659806824
|
|
NM_000143.4(FH):c.1172A>G (p.His391Arg)
|
rs1659806824
|
|
NM_000143.4(FH):c.1176T>C (p.Val392=)
|
|
|
NM_000143.4(FH):c.1176_1181del (p.Ala393_Val394del)
|
rs1659806431
|
|
NM_000143.4(FH):c.1177G>C (p.Ala393Pro)
|
rs2147914910
|
|
NM_000143.4(FH):c.1178C>T (p.Ala393Val)
|
|
|
NM_000143.4(FH):c.117G>A (p.Pro39=)
|
|
|
NM_000143.4(FH):c.117G>C (p.Pro39=)
|
|
|
NM_000143.4(FH):c.117G>T (p.Pro39=)
|
rs1291665514
|
|
NM_000143.4(FH):c.1186G>C (p.Val396Leu)
|
rs753996659
|
|
NM_000143.4(FH):c.1187T>G (p.Val396Gly)
|
rs1659806206
|
|
NM_000143.4(FH):c.1194C>A (p.Gly398=)
|
rs1659805814
|
|
NM_000143.4(FH):c.1194C>T (p.Gly398=)
|
rs1659805814
|
|
NM_000143.4(FH):c.1196G>A (p.Ser399Asn)
|
rs1659805662
|
|
NM_000143.4(FH):c.1197C>T (p.Ser399=)
|
rs1659805592
|
|
NM_000143.4(FH):c.11C>A (p.Ala4Glu)
|
rs1252151546
|
|
NM_000143.4(FH):c.11C>G (p.Ala4Gly)
|
|
|
NM_000143.4(FH):c.1200T>C (p.Asn400=)
|
rs1659805291
|
|
NM_000143.4(FH):c.1200T>G (p.Asn400Lys)
|
rs1659805291
|
|
NM_000143.4(FH):c.1200del (p.Asn400fs)
|
rs398123162
|
|
NM_000143.4(FH):c.1202G>A (p.Gly401Glu)
|
rs1573879289
|
|
NM_000143.4(FH):c.1204C>A (p.His402Asn)
|
|
|
NM_000143.4(FH):c.1205A>G (p.His402Arg)
|
rs886039366
|
|
NM_000143.4(FH):c.1205A>T (p.His402Leu)
|
rs886039366
|
|
NM_000143.4(FH):c.1205del (p.His402fs)
|
rs1558397011
|
|
NM_000143.4(FH):c.1207T>C (p.Phe403Leu)
|
|
|
NM_000143.4(FH):c.1209del (p.Phe403fs)
|
rs1060499644
|
|
NM_000143.4(FH):c.120C>T (p.Asn40=)
|
rs876658186
|
|
NM_000143.4(FH):c.120_130del (p.Ala41fs)
|
rs1573889860
|
|
NM_000143.4(FH):c.1210G>T (p.Glu404Ter)
|
rs797044974
|
|
NM_000143.4(FH):c.1212G>A (p.Glu404=)
|
rs752558644
|
|
NM_000143.4(FH):c.1212G>T (p.Glu404Asp)
|
|
|
NM_000143.4(FH):c.1216A>G (p.Asn406Asp)
|
rs876659362
|
|
NM_000143.4(FH):c.1217A>G (p.Asn406Ser)
|
|
|
NM_000143.4(FH):c.1218T>A (p.Asn406Lys)
|
|
|
NM_000143.4(FH):c.1224C>G (p.Phe408Leu)
|
rs759548413
|
|
NM_000143.4(FH):c.1224C>T (p.Phe408=)
|
|
|
NM_000143.4(FH):c.1227G>C (p.Lys409Asn)
|
rs774493741
|
|
NM_000143.4(FH):c.1228C>T (p.Pro410Ser)
|
rs2147914837
|
|
NM_000143.4(FH):c.1229C>G (p.Pro410Arg)
|
rs1057517735
|
|
NM_000143.4(FH):c.1229C>T (p.Pro410Leu)
|
rs1057517735
|
|
NM_000143.4(FH):c.122_123del (p.Ala41fs)
|
|
|
NM_000143.4(FH):c.1234A>T (p.Met412Leu)
|
|
|
NM_000143.4(FH):c.1236+14C>A
|
rs149241949
|
|
NM_000143.4(FH):c.1236+15T>C
|
|
|
NM_000143.4(FH):c.1236+16G>C
|
rs1424755855
|
|
NM_000143.4(FH):c.1236+16G>T
|
|
|
NM_000143.4(FH):c.1236+19T>G
|
|
|
NM_000143.4(FH):c.1236+1G>A
|
rs1131691249
|
|
NM_000143.4(FH):c.1236+1G>C
|
rs1131691249
|
|
NM_000143.4(FH):c.1236+2T>G
|
|
|
NM_000143.4(FH):c.1236+346_1236+355del
|
rs143840817
|
|
NM_000143.4(FH):c.1236+4dup
|
|
|
NM_000143.4(FH):c.1236+6C>A
|
|
|
NM_000143.4(FH):c.1236+6C>T
|
|
|
NM_000143.4(FH):c.1236+8T>G
|
|
|
NM_000143.4(FH):c.1236G>A (p.Met412Ile)
|
rs1573879248
|
|
NM_000143.4(FH):c.1237-10T>C
|
rs2147913445
|
|
NM_000143.4(FH):c.1237-10_1237-9dup
|
rs1553340717
|
|
NM_000143.4(FH):c.1237-13_1237-12insTT
|
rs1553340725
|
|
NM_000143.4(FH):c.1237-14_1237-5del
|
rs759012809
|
|
NM_000143.4(FH):c.1237-14_1237-9del
|
|
|
NM_000143.4(FH):c.1237-14_1237-9dup
|
rs779985493
|
|
NM_000143.4(FH):c.1237-15CTCA[2]
|
rs750898743
|
|
NM_000143.4(FH):c.1237-15CTCA[4]
|
rs750898743
|
|
NM_000143.4(FH):c.1237-16_1237-9dup
|
rs1553340718
|
|
NM_000143.4(FH):c.1237-1G>C
|
|
|
NM_000143.4(FH):c.1237-1G>T
|
rs1573878149
|
|
NM_000143.4(FH):c.1237-3A>G
|
rs2147913409
|
|
NM_000143.4(FH):c.1237-3A>T
|
rs2147913409
|
|
NM_000143.4(FH):c.1237-4A>C
|
rs1659749175
|
|
NM_000143.4(FH):c.1237-4A>G
|
rs1659749175
|
|
NM_000143.4(FH):c.1237-50TC[18]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[20]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[22]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[23]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[24]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[25]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[26]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-5C>G
|
rs200926050
|
|
NM_000143.4(FH):c.1237-5C>T
|
rs200926050
|
|
NM_000143.4(FH):c.1237-8A>T
|
|
|
NM_000143.4(FH):c.1237-9_1237-8insCTCT
|
rs1553340717
|
|
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT
|
rs1553340717
|
|
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCT
|
|
|
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCT
|
rs1553340717
|
|
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCT
|
rs1553340717
|
|
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCTCT
|
rs1553340717
|
|
NM_000143.4(FH):c.1237A>G (p.Ile413Val)
|
|
|
NM_000143.4(FH):c.1238T>C (p.Ile413Thr)
|
|
|
NM_000143.4(FH):c.1238_1239dup (p.Lys414fs)
|
|
|
NM_000143.4(FH):c.1239T>G (p.Ile413Met)
|
|
|
NM_000143.4(FH):c.123G>A (p.Ala41=)
|
rs1660317620
|
|
NM_000143.4(FH):c.123G>C (p.Ala41=)
|
rs1660317620
|
|
NM_000143.4(FH):c.1240A>G (p.Lys414Glu)
|
rs1573878145
|
|
NM_000143.4(FH):c.1240A>T (p.Lys414Ter)
|
rs1573878145
|
|
NM_000143.4(FH):c.1241A>G (p.Lys414Arg)
|
rs2147913385
|
|
NM_000143.4(FH):c.1243A>C (p.Asn415His)
|
rs1659748903
|
|
NM_000143.4(FH):c.1245T>C (p.Asn415=)
|
|
|
NM_000143.4(FH):c.1246G>A (p.Val416Met)
|
|
|
NM_000143.4(FH):c.1247del (p.Val416fs)
|
rs2147913368
|
|
NM_000143.4(FH):c.1248G>A (p.Val416=)
|
rs1659748690
|
|
NM_000143.4(FH):c.1249T>C (p.Leu417=)
|
rs2147913360
|
|
NM_000143.4(FH):c.124G>A (p.Ala42Thr)
|
|
|
NM_000143.4(FH):c.124G>T (p.Ala42Ser)
|
rs2147926832
|
|
NM_000143.4(FH):c.1250T>G (p.Leu417Ter)
|
rs1553340709
|
|
NM_000143.4(FH):c.1251dup (p.His418fs)
|
rs1553340708
|
|
NM_000143.4(FH):c.1252C>G (p.His418Asp)
|
|
|
NM_000143.4(FH):c.1252C>T (p.His418Tyr)
|
|
|
NM_000143.4(FH):c.1253A>T (p.His418Leu)
|
|
|
NM_000143.4(FH):c.1255T>G (p.Ser419Ala)
|
|
|
NM_000143.4(FH):c.1256C>T (p.Ser419Leu)
|
rs1131691244
|
|
NM_000143.4(FH):c.1257A>C (p.Ser419=)
|
|
|
NM_000143.4(FH):c.1259C>A (p.Ala420Asp)
|
rs766377516
|
|
NM_000143.4(FH):c.1259_1262dup (p.Arg421fs)
|
rs2147913317
|
|
NM_000143.4(FH):c.125C>T (p.Ala42Val)
|
rs1194980336
|
|
NM_000143.4(FH):c.1261A>G (p.Arg421Gly)
|
rs1659748055
|
|
NM_000143.4(FH):c.1262G>C (p.Arg421Thr)
|
rs1659747962
|
|
NM_000143.4(FH):c.1262G>T (p.Arg421Met)
|
rs1659747962
|
|
NM_000143.4(FH):c.1263G>C (p.Arg421Ser)
|
rs777409218
|
|
NM_000143.4(FH):c.1263G>T (p.Arg421Ser)
|
rs777409218
|
|
NM_000143.4(FH):c.1263del (p.Arg421fs)
|
rs863223989
|
|
NM_000143.4(FH):c.1266G>A (p.Leu422=)
|
|
|
NM_000143.4(FH):c.1267_1268delinsG (p.Leu423fs)
|
|
|
NM_000143.4(FH):c.1268T>G (p.Leu423Arg)
|
rs863224009
|
|
NM_000143.4(FH):c.1269G>A (p.Leu423=)
|
rs2147913292
|
|
NM_000143.4(FH):c.1269_1278del (p.Gly424fs)
|
|
|
NM_000143.4(FH):c.1270G>A (p.Gly424Arg)
|
rs1553340705
|
|
NM_000143.4(FH):c.1273G>A (p.Asp425Asn)
|
|
|
NM_000143.4(FH):c.1275T>A (p.Asp425Glu)
|
|
|
NM_000143.4(FH):c.1277C>A (p.Ala426Asp)
|
rs1553340703
|
|
NM_000143.4(FH):c.1278T>A (p.Ala426=)
|
|
|
NM_000143.4(FH):c.127C>T (p.Arg43Ter)
|
rs200496951
|
|
NM_000143.4(FH):c.1280C>T (p.Ser427Leu)
|
rs1573878095
|
|
NM_000143.4(FH):c.1280del (p.Ala426_Ser427insTer)
|
rs2147913263
|
|
NM_000143.4(FH):c.1282G>C (p.Val428Leu)
|
rs1558396381
|
|
NM_000143.4(FH):c.1285T>C (p.Ser429Pro)
|
|
|
NM_000143.4(FH):c.1286C>G (p.Ser429Cys)
|
rs1558396375
|
|
NM_000143.4(FH):c.1287C>T (p.Ser429=)
|
rs2147913245
|
|
NM_000143.4(FH):c.1287del (p.Phe430fs)
|
rs1659746788
|
|
NM_000143.4(FH):c.1289T>A (p.Phe430Tyr)
|
|
|
NM_000143.4(FH):c.128G>T (p.Arg43Leu)
|
rs2147926825
|
|
NM_000143.4(FH):c.1292C>T (p.Thr431Ile)
|
rs201005880
|
|
NM_000143.4(FH):c.1293del (p.Glu432fs)
|
rs398123163
|
|
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)
|
rs1553340686
|
|
NM_000143.4(FH):c.1297A>T (p.Asn433Tyr)
|
rs200121326
|
|
NM_000143.4(FH):c.1298del (p.Asn433fs)
|
|
|
NM_000143.4(FH):c.12A>T (p.Ala4=)
|
rs201277370
|
|
NM_000143.4(FH):c.1300T>C (p.Cys434Arg)
|
rs1659745968
|
|
NM_000143.4(FH):c.1302C>A (p.Cys434Ter)
|
rs2070080
|
|
NM_000143.4(FH):c.1302_1303del (p.Val435fs)
|
|
|
NM_000143.4(FH):c.1303G>C (p.Val435Leu)
|
|
|
NM_000143.4(FH):c.1304T>C (p.Val435Ala)
|
rs982483795
|
|
NM_000143.4(FH):c.1305G>A (p.Val435=)
|
rs772415507
|
|
NM_000143.4(FH):c.1305G>T (p.Val435=)
|
rs772415507
|
|
NM_000143.4(FH):c.1306G>A (p.Val436Met)
|
rs1324526971
|
|
NM_000143.4(FH):c.1306G>T (p.Val436Leu)
|
rs1324526971
|
|
NM_000143.4(FH):c.1309G>C (p.Gly437Arg)
|
|
|
NM_000143.4(FH):c.1310del (p.Gly437fs)
|
rs2147913184
|
|
NM_000143.4(FH):c.1318G>A (p.Ala440Thr)
|
|
|
NM_000143.4(FH):c.132+10G>T
|
|
|
NM_000143.4(FH):c.132+12C>T
|
|
|
NM_000143.4(FH):c.132+14G>A
|
|
|
NM_000143.4(FH):c.132+15C>T
|
|
|
NM_000143.4(FH):c.132+16C>T
|
|
|
NM_000143.4(FH):c.132+5G>A
|
rs1060499627
|
|
NM_000143.4(FH):c.132+7G>A
|
rs1006041574
|
|
NM_000143.4(FH):c.1322A>G (p.Asn441Ser)
|
rs1357584529
|
|
NM_000143.4(FH):c.1323T>A (p.Asn441Lys)
|
rs945101483
|
|
NM_000143.4(FH):c.1323T>C (p.Asn441=)
|
|
|
NM_000143.4(FH):c.1324A>G (p.Thr442Ala)
|
rs771503401
|
|
NM_000143.4(FH):c.1325C>G (p.Thr442Arg)
|
rs1060500899
|
|
NM_000143.4(FH):c.1325C>T (p.Thr442Ile)
|
|
|
NM_000143.4(FH):c.1326A>C (p.Thr442=)
|
|
|
NM_000143.4(FH):c.1326A>G (p.Thr442=)
|
rs2147913140
|
|
NM_000143.4(FH):c.1327G>T (p.Glu443Ter)
|
rs1553340687
|
|
NM_000143.4(FH):c.1328_1331dup (p.Ile445fs)
|
rs1573878004
|
|
NM_000143.4(FH):c.132G>A (p.Met44Ile)
|
rs863223982
|
|
NM_000143.4(FH):c.133-10T>C
|
rs1660247033
|
|
NM_000143.4(FH):c.133-11C>T
|
|
|
NM_000143.4(FH):c.133-14A>C
|
|
|
NM_000143.4(FH):c.133-15T>C
|
|
|
NM_000143.4(FH):c.133-16G>A
|
|
|
NM_000143.4(FH):c.133-3T>G
|
|
|
NM_000143.4(FH):c.133-5T>C
|
|
|
NM_000143.4(FH):c.133-7T>C
|
|
|
NM_000143.4(FH):c.133-8G>C
|
rs2147925319
|
|
NM_000143.4(FH):c.1330A>G (p.Arg444Gly)
|
rs749266351
|
|
NM_000143.4(FH):c.1337A>G (p.Asn446Ser)
|
rs2147913108
|
|
NM_000143.4(FH):c.1338C>G (p.Asn446Lys)
|
rs113572177
|
|
NM_000143.4(FH):c.1339A>C (p.Lys447Gln)
|
|
|
NM_000143.4(FH):c.1339A>T (p.Lys447Ter)
|
rs863223977
|
|
NM_000143.4(FH):c.133G>T (p.Ala45Ser)
|
rs1260007300
|
|
NM_000143.4(FH):c.1340A>G (p.Lys447Arg)
|
rs756326120
|
|
NM_000143.4(FH):c.1342C>T (p.Leu448=)
|
rs2147913090
|
|
NM_000143.4(FH):c.1346del (p.Met449fs)
|
|
|
NM_000143.4(FH):c.1347G>A (p.Met449Ile)
|
rs376502356
|
|
NM_000143.4(FH):c.1347del (p.Met449fs)
|
rs1060500903
|
|
NM_000143.4(FH):c.1348A>G (p.Asn450Asp)
|
rs1659742832
|
|
NM_000143.4(FH):c.1349_1352del (p.Asn450fs)
|
rs863223990
|
|
NM_000143.4(FH):c.1351G>T (p.Glu451Ter)
|
rs1558396320
|
|
NM_000143.4(FH):c.1352A>G (p.Glu451Gly)
|
|
|
NM_000143.4(FH):c.1354T>A (p.Ser452Thr)
|
rs201388169
|
|
NM_000143.4(FH):c.1356T>C (p.Ser452=)
|
|
|
NM_000143.4(FH):c.1357C>G (p.Leu453Val)
|
rs1218102979
|
|
NM_000143.4(FH):c.1357C>T (p.Leu453=)
|
|
|
NM_000143.4(FH):c.1357_1358del (p.Leu453fs)
|
rs863223991
|
|
NM_000143.4(FH):c.1358T>C (p.Leu453Pro)
|
rs2147913041
|
|
NM_000143.4(FH):c.1359A>G (p.Leu453=)
|
rs2147913040
|
|
NM_000143.4(FH):c.1361T>C (p.Met454Thr)
|
rs1353763695
|
|
NM_000143.4(FH):c.1362G>A (p.Met454Ile)
|
rs766177929
|
|
NM_000143.4(FH):c.1366G>C (p.Val456Leu)
|
rs200244096
|
|
NM_000143.4(FH):c.1368G>A (p.Val456=)
|
|
|
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)
|
rs863223992
|
|
NM_000143.4(FH):c.1371A>G (p.Thr457=)
|
|
|
NM_000143.4(FH):c.1378A>G (p.Asn460Asp)
|
|
|
NM_000143.4(FH):c.1379A>G (p.Asn460Ser)
|
rs767253363
|
|
NM_000143.4(FH):c.1382C>T (p.Pro461Leu)
|
|
|
NM_000143.4(FH):c.1384C>T (p.His462Tyr)
|
rs201625211
|
|
NM_000143.4(FH):c.1385A>G (p.His462Arg)
|
rs1466657268
|
|
NM_000143.4(FH):c.1386T>C (p.His462=)
|
|
|
NM_000143.4(FH):c.1389A>G (p.Ile463Met)
|
rs876659472
|
|
NM_000143.4(FH):c.1390+1G>T
|
rs886039367
|
|
NM_000143.4(FH):c.1390+2T>C
|
rs1558396285
|
|
NM_000143.4(FH):c.1390+3A>G
|
|
|
NM_000143.4(FH):c.1390+3_1390+6del
|
|
|
NM_000143.4(FH):c.1390+4A>T
|
rs2147913003
|
|
NM_000143.4(FH):c.1390+4dup
|
|
|
NM_000143.4(FH):c.1390+5G>A
|
rs1352808353
|
|
NM_000143.4(FH):c.1390+6T>C
|
rs1338650106
|
|
NM_000143.4(FH):c.1390+9T>A
|
|
|
NM_000143.4(FH):c.1390+9T>C
|
|
|
NM_000143.4(FH):c.1391-12T>G
|
|
|
NM_000143.4(FH):c.1391-13A>T
|
|
|
NM_000143.4(FH):c.1391-13_1391-11del
|
|
|
NM_000143.4(FH):c.1391-14del
|
|
|
NM_000143.4(FH):c.1391-17T>A
|
|
|
NM_000143.4(FH):c.1391-17T>G
|
|
|
NM_000143.4(FH):c.1391-19C>A
|
rs750363222
|
|
NM_000143.4(FH):c.1391-1G>A
|
rs863223978
|
|
NM_000143.4(FH):c.1391-1G>C
|
rs863223978
|
|
NM_000143.4(FH):c.1391-1_1391delinsTT
|
rs2147911367
|
|
NM_000143.4(FH):c.1391-269A>G
|
rs2147911550
|
|
NM_000143.4(FH):c.1391-2A>G
|
rs863224008
|
|
NM_000143.4(FH):c.1391-2A>T
|
rs863224008
|
|
NM_000143.4(FH):c.1391-2del
|
rs1064795320
|
|
NM_000143.4(FH):c.1391-3C>T
|
|
|
NM_000143.4(FH):c.1391-9T>G
|
rs2147911387
|
|
NM_000143.4(FH):c.1391G>T (p.Gly464Val)
|
rs1131691250
|
|
NM_000143.4(FH):c.1392G>A (p.Gly464=)
|
rs2147911364
|
|
NM_000143.4(FH):c.1392G>T (p.Gly464=)
|
|
|
NM_000143.4(FH):c.1398C>G (p.Asp466Glu)
|
rs1558395525
|
|
NM_000143.4(FH):c.1398C>T (p.Asp466=)
|
rs1558395525
|
|
NM_000143.4(FH):c.1399A>G (p.Lys467Glu)
|
rs2147911350
|
|
NM_000143.4(FH):c.139C>T (p.Gln47Ter)
|
rs863223980
|
|
NM_000143.4(FH):c.13C>G (p.Leu5Val)
|
rs1553342165
|
|
NM_000143.4(FH):c.1400dup (p.Ala468fs)
|
rs863223993
|
|
NM_000143.4(FH):c.1403C>T (p.Ala468Val)
|
|
|
NM_000143.4(FH):c.140_147del (p.Gln47fs)
|
rs1573888556
|
|
NM_000143.4(FH):c.1410G>A (p.Lys470=)
|
rs1343209025
|
|
NM_000143.4(FH):c.1411A>G (p.Ile471Val)
|
|
|
NM_000143.4(FH):c.1411A>T (p.Ile471Phe)
|
rs1659667519
|
|
NM_000143.4(FH):c.1413T>C (p.Ile471=)
|
|
|
NM_000143.4(FH):c.1414G>A (p.Ala472Thr)
|
|
|
NM_000143.4(FH):c.1415C>A (p.Ala472Asp)
|
rs765643179
|
|
NM_000143.4(FH):c.1415C>T (p.Ala472Val)
|
rs765643179
|
|
NM_000143.4(FH):c.1416T>A (p.Ala472=)
|
|
|
NM_000143.4(FH):c.141A>G (p.Gln47=)
|
rs1573888563
|
|
NM_000143.4(FH):c.1421C>T (p.Thr474Ile)
|
rs369802820
|
|
NM_000143.4(FH):c.1422A>G (p.Thr474=)
|
rs1573876607
|
|
NM_000143.4(FH):c.1422A>T (p.Thr474=)
|
rs1573876607
|
|
NM_000143.4(FH):c.1424C>A (p.Ala475Glu)
|
rs863224012
|
|
NM_000143.4(FH):c.1425A>G (p.Ala475=)
|
|
|
NM_000143.4(FH):c.1427A>G (p.His476Arg)
|
rs1202960869
|
|
NM_000143.4(FH):c.1429A>G (p.Lys477Glu)
|
rs547519260
|
|
NM_000143.4(FH):c.1430A>C (p.Lys477Thr)
|
rs761934894
|
|
NM_000143.4(FH):c.1430_1437dup (p.Ser480fs)
|
rs863223994
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1434T>A (p.Asn478Lys)
|
rs786202199
|
|
NM_000143.4(FH):c.1435G>T (p.Gly479Ter)
|
rs1573876584
|
|
NM_000143.4(FH):c.1437_1443del (p.Gly479_Ser480insTer)
|
|
|
NM_000143.4(FH):c.1439C>G (p.Ser480Ter)
|
rs1131691245
|
|
NM_000143.4(FH):c.1439C>T (p.Ser480Leu)
|
rs1131691245
|
|
NM_000143.4(FH):c.143A>T (p.Asn48Ile)
|
rs1660246440
|
|
NM_000143.4(FH):c.1445T>G (p.Leu482Ter)
|
rs1064796708
|
|
NM_000143.4(FH):c.1446A>C (p.Leu482Phe)
|
rs863223979
|
|
NM_000143.4(FH):c.1446_1449del (p.Glu484fs)
|
rs398123165
|
|
NM_000143.4(FH):c.1450G>A (p.Glu484Lys)
|
|
|
NM_000143.4(FH):c.1450G>T (p.Glu484Ter)
|
|
|
NM_000143.4(FH):c.1455T>C (p.Thr485=)
|
rs2147911274
|
|
NM_000143.4(FH):c.1456_1458del (p.Ala486del)
|
rs2147911262
|
|
NM_000143.4(FH):c.1457C>A (p.Ala486Asp)
|
rs2147911265
|
|
NM_000143.4(FH):c.1457del (p.Ala486fs)
|
rs2147911268
|
|
NM_000143.4(FH):c.1458T>C (p.Ala486=)
|
|
|
NM_000143.4(FH):c.1459A>G (p.Ile487Val)
|
rs1391195810
|
|
NM_000143.4(FH):c.1460T>G (p.Ile487Ser)
|
|
|
NM_000143.4(FH):c.1461C>A (p.Ile487=)
|
rs377091029
|
|
NM_000143.4(FH):c.1462del (p.Glu488fs)
|
|
|
NM_000143.4(FH):c.1463A>T (p.Glu488Val)
|
|
|
NM_000143.4(FH):c.1464A>G (p.Glu488=)
|
|
|
NM_000143.4(FH):c.1467T>C (p.Leu489=)
|
rs1573876542
|
|
NM_000143.4(FH):c.1468G>C (p.Gly490Arg)
|
rs1553340515
|
|
NM_000143.4(FH):c.1469del (p.Gly490fs)
|
rs1060499645
|
|
NM_000143.4(FH):c.1470C>G (p.Gly490=)
|
|
|
NM_000143.4(FH):c.1474C>G (p.Leu492Val)
|
rs1659663430
|
|
NM_000143.4(FH):c.1475_1476del (p.Leu492fs)
|
rs886041201
|
|
NM_000143.4(FH):c.1476C>G (p.Leu492=)
|
rs1659663240
|
|
NM_000143.4(FH):c.1478C>A (p.Thr493Lys)
|
rs1558395446
|
|
NM_000143.4(FH):c.1478del (p.Thr493fs)
|
rs2147911225
|
|
NM_000143.4(FH):c.1480G>C (p.Ala494Pro)
|
rs1553340508
|
|
NM_000143.4(FH):c.1481C>A (p.Ala494Glu)
|
|
|
NM_000143.4(FH):c.1481C>G (p.Ala494Gly)
|
rs752369363
|
|
NM_000143.4(FH):c.1481C>T (p.Ala494Val)
|
rs752369363
|
|
NM_000143.4(FH):c.1484A>G (p.Glu495Gly)
|
rs2147911220
|
|
NM_000143.4(FH):c.1484_1488del (p.Glu495fs)
|
rs1060500907
|
|
NM_000143.4(FH):c.1485G>A (p.Glu495=)
|
|
|
NM_000143.4(FH):c.1486C>T (p.Gln496Ter)
|
rs1553340506
|
|
NM_000143.4(FH):c.1489T>C (p.Phe497Leu)
|
rs2147911216
|
|
NM_000143.4(FH):c.148T>C (p.Phe50Leu)
|
rs1558402284
|
|
NM_000143.4(FH):c.1491T>C (p.Phe497=)
|
|
|
NM_000143.4(FH):c.1493A>G (p.Asp498Gly)
|
|
|
NM_000143.4(FH):c.1495G>A (p.Glu499Lys)
|
rs750838853
|
|
NM_000143.4(FH):c.1495G>T (p.Glu499Ter)
|
|
|
NM_000143.4(FH):c.1497del (p.Glu499fs)
|
rs1659662318
|
|
NM_000143.4(FH):c.1498T>C (p.Trp500Arg)
|
|
|
NM_000143.4(FH):c.1499G>A (p.Trp500Ter)
|
rs2147911203
|
|
NM_000143.4(FH):c.14T>C (p.Leu5Pro)
|
rs200099371
|
|
NM_000143.4(FH):c.14T>G (p.Leu5Arg)
|
|
|
NM_000143.4(FH):c.1500G>A (p.Trp500Ter)
|
rs886039368
|
|
NM_000143.4(FH):c.1504A>G (p.Lys502Glu)
|
|
|
NM_000143.4(FH):c.1506dup (p.Pro503fs)
|
rs886041202
|
|
NM_000143.4(FH):c.1508C>G (p.Pro503Arg)
|
rs1659661748
|
|
NM_000143.4(FH):c.1508_1509insCAAACC (p.Pro503_Lys504dup)
|
rs1060500895
|
|
NM_000143.4(FH):c.150C>T (p.Phe50=)
|
rs2147925282
|
|
NM_000143.4(FH):c.1512G>A (p.Lys504=)
|
|
|
NM_000143.4(FH):c.1516A>G (p.Met506Val)
|
rs762413315
|
|
NM_000143.4(FH):c.1518G>A (p.Met506Ile)
|
rs2147911190
|
|
NM_000143.4(FH):c.1518G>T (p.Met506Ile)
|
|
|
NM_000143.4(FH):c.151C>A (p.Arg51=)
|
rs778678782
|
|
NM_000143.4(FH):c.1520T>A (p.Leu507Gln)
|
|
|
NM_000143.4(FH):c.1520T>C (p.Leu507Pro)
|
rs1425094515
|
|
NM_000143.4(FH):c.1521G>A (p.Leu507=)
|
rs2147911186
|
|
NM_000143.4(FH):c.1522G>C (p.Gly508Arg)
|
rs1659661545
|
|
NM_000143.4(FH):c.1522G>T (p.Gly508Cys)
|
rs1659661545
|
|
NM_000143.4(FH):c.1523G>A (p.Gly508Asp)
|
|
|
NM_000143.4(FH):c.1524T>G (p.Gly508=)
|
|
|
NM_000143.4(FH):c.1528A>C (p.Lys510Gln)
|
rs2147911176
|
|
NM_000143.4(FH):c.1528A>G (p.Lys510Glu)
|
|
|
NM_000143.4(FH):c.1529A>G (p.Lys510Arg)
|
rs2147911174
|
|
NM_000143.4(FH):c.152G>A (p.Arg51Gln)
|
rs976734433
|
|
NM_000143.4(FH):c.152G>C (p.Arg51Pro)
|
rs976734433
|
|
NM_000143.4(FH):c.1532G>C (p.Ter511Ser)
|
rs2147911168
|
|
NM_000143.4(FH):c.154A>G (p.Ile52Val)
|
rs543844061
|
|
NM_000143.4(FH):c.157G>A (p.Glu53Lys)
|
rs863224013
|
|
NM_000143.4(FH):c.157G>T (p.Glu53Ter)
|
rs863224013
|
|
NM_000143.4(FH):c.15T>G (p.Leu5=)
|
rs2147927079
|
|
NM_000143.4(FH):c.163G>T (p.Asp55Tyr)
|
|
|
NM_000143.4(FH):c.164A>G (p.Asp55Gly)
|
rs1660245400
|
|
NM_000143.4(FH):c.166A>G (p.Thr56Ala)
|
rs1232573732
|
|
NM_000143.4(FH):c.167C>A (p.Thr56Asn)
|
rs1433872618
|
|
NM_000143.4(FH):c.167C>T (p.Thr56Ile)
|
rs1433872618
|
|
NM_000143.4(FH):c.168C>T (p.Thr56=)
|
rs574938106
|
|
NM_000143.4(FH):c.16C>T (p.Arg6Trp)
|
rs1660324018
|
|
NM_000143.4(FH):c.170T>C (p.Phe57Ser)
|
rs759884607
|
|
NM_000143.4(FH):c.172G>A (p.Gly58Ser)
|
rs11545659
|
|
NM_000143.4(FH):c.174_177dup (p.Leu60Ter)
|
rs1131691246
|
|
NM_000143.4(FH):c.175G>T (p.Glu59Ter)
|
rs1573888513
|
|
NM_000143.4(FH):c.177A>G (p.Glu59=)
|
rs2147925246
|
|
NM_000143.4(FH):c.17G>A (p.Arg6Gln)
|
|
|
NM_000143.4(FH):c.17G>C (p.Arg6Pro)
|
|
|
NM_000143.4(FH):c.180A>G (p.Leu60=)
|
rs1573888502
|
|
NM_000143.4(FH):c.183G>A (p.Lys61=)
|
rs766840026
|
|
NM_000143.4(FH):c.183G>C (p.Lys61Asn)
|
rs766840026
|
|
NM_000143.4(FH):c.185_188dup (p.Asn64fs)
|
rs1558402255
|
|
NM_000143.4(FH):c.186G>A (p.Val62=)
|
|
|
NM_000143.4(FH):c.187C>A (p.Pro63Thr)
|
rs1573888488
|
|
NM_000143.4(FH):c.187C>T (p.Pro63Ser)
|
rs1573888488
|
|
NM_000143.4(FH):c.189A>C (p.Pro63=)
|
rs375195780
|
|
NM_000143.4(FH):c.189A>G (p.Pro63=)
|
|
|
NM_000143.4(FH):c.18G>A (p.Arg6=)
|
|
|
NM_000143.4(FH):c.193G>T (p.Asp65Tyr)
|
rs769956664
|
|
NM_000143.4(FH):c.194A>T (p.Asp65Val)
|
rs145116688
|
|
NM_000143.4(FH):c.198G>A (p.Lys66=)
|
rs556439883
|
|
NM_000143.4(FH):c.199T>G (p.Tyr67Asp)
|
rs1660243497
|
|
NM_000143.4(FH):c.1A>C (p.Met1Leu)
|
rs776806414
|
|
NM_000143.4(FH):c.1A>T (p.Met1Leu)
|
rs776806414
|
|
NM_000143.4(FH):c.201T>G (p.Tyr67Ter)
|
rs1558402241
|
|
NM_000143.4(FH):c.204T>A (p.Tyr68Ter)
|
rs1060500883
|
|
NM_000143.4(FH):c.204T>C (p.Tyr68=)
|
rs1060500883
|
|
NM_000143.4(FH):c.206G>A (p.Gly69Asp)
|
rs1660243078
|
|
NM_000143.4(FH):c.207C>G (p.Gly69=)
|
rs370392829
|
|
NM_000143.4(FH):c.209C>T (p.Ala70Val)
|
rs1573888433
|
|
NM_000143.4(FH):c.214A>C (p.Thr72Pro)
|
rs886039362
|
|
NM_000143.4(FH):c.215C>A (p.Thr72Asn)
|
rs2147925174
|
|
NM_000143.4(FH):c.216C>T (p.Thr72=)
|
rs1341995835
|
|
NM_000143.4(FH):c.219G>C (p.Val73=)
|
|
|
NM_000143.4(FH):c.21C>A (p.Leu7=)
|
|
|
NM_000143.4(FH):c.21C>G (p.Leu7=)
|
rs1263147931
|
|
NM_000143.4(FH):c.221G>A (p.Arg74Lys)
|
rs200922399
|
|
NM_000143.4(FH):c.221G>C (p.Arg74Thr)
|
|
|
NM_000143.4(FH):c.221dup (p.Ser75fs)
|
rs1553341951
|
|
NM_000143.4(FH):c.222A>G (p.Arg74=)
|
|
|
NM_000143.4(FH):c.226A>G (p.Thr76Ala)
|
|
|
NM_000143.4(FH):c.228G>A (p.Thr76=)
|
rs373586584
|
|
NM_000143.4(FH):c.228G>C (p.Thr76=)
|
rs373586584
|
|
NM_000143.4(FH):c.228G>T (p.Thr76=)
|
rs373586584
|
|
NM_000143.4(FH):c.229A>G (p.Met77Val)
|
|
|
NM_000143.4(FH):c.22C>G (p.Leu8Val)
|
rs1660323820
|
|
NM_000143.4(FH):c.22C>T (p.Leu8Phe)
|
|
|
NM_000143.4(FH):c.232A>C (p.Asn78His)
|
rs1558402209
|
|
NM_000143.4(FH):c.233A>G (p.Asn78Ser)
|
|
|
NM_000143.4(FH):c.234C>A (p.Asn78Lys)
|
rs993218685
|
|
NM_000143.4(FH):c.237dup (p.Lys80Ter)
|
rs1553341945
|
|
NM_000143.4(FH):c.239A>C (p.Lys80Thr)
|
rs1660241142
|
|
NM_000143.4(FH):c.239dup (p.Ile81fs)
|
rs1553341942
|
|
NM_000143.4(FH):c.240G>A (p.Lys80=)
|
rs1573888362
|
|
NM_000143.4(FH):c.240G>C (p.Lys80Asn)
|
rs1573888362
|
|
NM_000143.4(FH):c.243T>A (p.Ile81=)
|
rs2147925126
|
|
NM_000143.4(FH):c.243T>G (p.Ile81Met)
|
|
|
NM_000143.4(FH):c.244_245dup (p.Gly83fs)
|
|
|
NM_000143.4(FH):c.245G>A (p.Gly82Glu)
|
rs1558402197
|
|
NM_000143.4(FH):c.248G>A (p.Gly83Asp)
|
|
|
NM_000143.4(FH):c.249T>A (p.Gly83=)
|
rs2147925115
|
|
NM_000143.4(FH):c.251T>C (p.Val84Ala)
|
rs878853692
|
|
NM_000143.4(FH):c.252G>A (p.Val84=)
|
rs2147925108
|
|
NM_000143.4(FH):c.254C>A (p.Thr85Lys)
|
|
|
NM_000143.4(FH):c.254C>G (p.Thr85Arg)
|
rs1324632356
|
|
NM_000143.4(FH):c.255A>G (p.Thr85=)
|
rs2147925102
|
|
NM_000143.4(FH):c.260G>T (p.Arg87Leu)
|
rs200007371
|
|
NM_000143.4(FH):c.262A>C (p.Met88Leu)
|
rs1660240175
|
|
NM_000143.4(FH):c.263T>A (p.Met88Lys)
|
rs763390436
|
|
NM_000143.4(FH):c.264G>C (p.Met88Ile)
|
rs2147925082
|
|
NM_000143.4(FH):c.265C>T (p.Pro89Ser)
|
|
|
NM_000143.4(FH):c.266_267+1delinsATT
|
|
|
NM_000143.4(FH):c.267+10A>G
|
|
|
NM_000143.4(FH):c.267+13dup
|
|
|
NM_000143.4(FH):c.267+14G>A
|
|
|
NM_000143.4(FH):c.267+1G>A
|
rs878853691
|
|
NM_000143.4(FH):c.267+1G>C
|
rs878853691
|
|
NM_000143.4(FH):c.267+1G>T
|
rs878853691
|
|
NM_000143.4(FH):c.267+1_267+10del
|
rs1060499629
|
|
NM_000143.4(FH):c.267+3_267+4del
|
|
|
NM_000143.4(FH):c.267+4A>C
|
|
|
NM_000143.4(FH):c.267+7G>A
|
rs1660239794
|
|
NM_000143.4(FH):c.267A>C (p.Pro89=)
|
rs1060500897
|
|
NM_000143.4(FH):c.268-15del
|
rs1343862298
|
|
NM_000143.4(FH):c.268-16T>G
|
|
|
NM_000143.4(FH):c.268-18T>A
|
rs1430617071
|
|
NM_000143.4(FH):c.268-21_268-8del
|
rs2147923124
|
|
NM_000143.4(FH):c.268-2A>G
|
rs1064793741
|
|
NM_000143.4(FH):c.268-3_268-2del
|
rs2147923117
|
|
NM_000143.4(FH):c.268-3del
|
|
|
NM_000143.4(FH):c.268-6T>A
|
|
|
NM_000143.4(FH):c.268-7_268-6del
|
|
|
NM_000143.4(FH):c.269C>T (p.Thr90Ile)
|
rs1401508226
|
|
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup)
|
rs1395036789
|
|
NM_000143.4(FH):c.270C>G (p.Thr90=)
|
rs748852152
|
|
NM_000143.4(FH):c.272C>T (p.Pro91Leu)
|
rs1455612736
|
|
NM_000143.4(FH):c.274G>T (p.Val92Phe)
|
|
|
NM_000143.4(FH):c.276T>C (p.Val92=)
|
|
|
NM_000143.4(FH):c.278T>C (p.Ile93Thr)
|
rs1660148233
|
|
NM_000143.4(FH):c.284C>T (p.Ala95Val)
|
rs1660148115
|
|
NM_000143.4(FH):c.288T>C (p.Phe96=)
|
rs747348623
|
|
NM_000143.4(FH):c.288del (p.Phe96fs)
|
rs2147923081
|
|
NM_000143.4(FH):c.289G>A (p.Gly97Ser)
|
|
|
NM_000143.4(FH):c.289G>C (p.Gly97Arg)
|
rs1660147877
|
|
NM_000143.4(FH):c.291C>T (p.Gly97=)
|
|
|
NM_000143.4(FH):c.292_308del (p.Ile98fs)
|
|
|
NM_000143.4(FH):c.295_301del (p.Leu99fs)
|
rs863224017
|
|
NM_000143.4(FH):c.299A>T (p.Lys100Met)
|
|
|
NM_000143.4(FH):c.29_30del (p.Arg10fs)
|
rs2147927054
|
|
NM_000143.4(FH):c.2T>A (p.Met1Lys)
|
rs201261794
|
|
NM_000143.4(FH):c.2T>C (p.Met1Thr)
|
rs201261794
|
|
NM_000143.4(FH):c.300G>A (p.Lys100=)
|
|
|
NM_000143.4(FH):c.301_319del (p.Arg101fs)
|
rs1558401094
|
|
NM_000143.4(FH):c.302G>C (p.Arg101Pro)
|
rs75086406
|
|
NM_000143.4(FH):c.303A>C (p.Arg101=)
|
|
|
NM_000143.4(FH):c.307G>A (p.Ala103Thr)
|
|
|
NM_000143.4(FH):c.308C>T (p.Ala103Val)
|
rs1256116208
|
|
NM_000143.4(FH):c.309C>A (p.Ala103=)
|
rs10926501
|
|
NM_000143.4(FH):c.310G>A (p.Ala104Thr)
|
rs1303488878
|
|
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer)
|
rs876658569
|
|
NM_000143.4(FH):c.317_318dup (p.Asn107Ter)
|
|
|
NM_000143.4(FH):c.318A>G (p.Val106=)
|
rs2147923011
|
|
NM_000143.4(FH):c.318A>T (p.Val106=)
|
|
|
NM_000143.4(FH):c.320A>C (p.Asn107Thr)
|
rs121913121
|
|
NM_000143.4(FH):c.321C>G (p.Asn107Lys)
|
|
|
NM_000143.4(FH):c.322C>T (p.Gln108Ter)
|
rs1060499630
|
|
NM_000143.4(FH):c.326A>T (p.Asp109Val)
|
rs1573886432
|
|
NM_000143.4(FH):c.32C>G (p.Ser11Trp)
|
|
|
NM_000143.4(FH):c.32C>T (p.Ser11Leu)
|
rs1226883651
|
|
NM_000143.4(FH):c.32_69del (p.Ser11fs)
|
rs2147926966
|
|
NM_000143.4(FH):c.335T>C (p.Leu112Pro)
|
|
|
NM_000143.4(FH):c.336T>C (p.Leu112=)
|
|
|
NM_000143.4(FH):c.338A>G (p.Asp113Gly)
|
|
|
NM_000143.4(FH):c.339T>A (p.Asp113Glu)
|
rs1029743950
|
|
NM_000143.4(FH):c.33G>A (p.Ser11=)
|
rs200542051
|
|
NM_000143.4(FH):c.33G>T (p.Ser11=)
|
rs200542051
|
|
NM_000143.4(FH):c.344del (p.Lys115fs)
|
rs1573886415
|
|
NM_000143.4(FH):c.345G>A (p.Lys115=)
|
|
|
NM_000143.4(FH):c.349G>C (p.Ala117Pro)
|
rs886039363
|
|
NM_000143.4(FH):c.34C>A (p.Arg12Ser)
|
rs199912971
|
|
NM_000143.4(FH):c.34C>G (p.Arg12Gly)
|
rs199912971
|
|
NM_000143.4(FH):c.351T>G (p.Ala117=)
|
|
|
NM_000143.4(FH):c.353del (p.Asn118fs)
|
rs1558401064
|
|
NM_000143.4(FH):c.354T>G (p.Asn118Lys)
|
rs1465574376
|
|
NM_000143.4(FH):c.355G>A (p.Ala119Thr)
|
|
|
NM_000143.4(FH):c.355_356delinsTT (p.Ala119Leu)
|
|
|
NM_000143.4(FH):c.356C>A (p.Ala119Glu)
|
|
|
NM_000143.4(FH):c.356C>T (p.Ala119Val)
|
rs1395827785
|
|
NM_000143.4(FH):c.357A>C (p.Ala119=)
|
rs767209674
|
|
NM_000143.4(FH):c.358A>C (p.Ile120Leu)
|
rs199641124
|
|
NM_000143.4(FH):c.35G>A (p.Arg12His)
|
rs367826177
|
|
NM_000143.4(FH):c.361A>G (p.Met121Val)
|
|
|
NM_000143.4(FH):c.363G>C (p.Met121Ile)
|
|
|
NM_000143.4(FH):c.366G>A (p.Lys122=)
|
rs1573886379
|
|
NM_000143.4(FH):c.36T>A (p.Arg12=)
|
rs2147927029
|
|
NM_000143.4(FH):c.370G>A (p.Ala124Thr)
|
rs1660143983
|
|
NM_000143.4(FH):c.370G>C (p.Ala124Pro)
|
rs1660143983
|
|
NM_000143.4(FH):c.373G>C (p.Asp125His)
|
rs2147922936
|
|
NM_000143.4(FH):c.376G>T (p.Glu126Ter)
|
rs1660143834
|
|
NM_000143.4(FH):c.378+12T>C
|
rs2147922909
|
|
NM_000143.4(FH):c.378+12del
|
rs772858528
|
|
NM_000143.4(FH):c.378+14A>T
|
|
|
NM_000143.4(FH):c.378+16T>G
|
|
|
NM_000143.4(FH):c.378+17G>A
|
rs1280427620
|
|
NM_000143.4(FH):c.378+19G>A
|
|
|
NM_000143.4(FH):c.378+1G>A
|
rs1660143675
|
|
NM_000143.4(FH):c.378+4G>A
|
rs2147922924
|
|
NM_000143.4(FH):c.378+5G>A
|
rs1660143514
|
|
NM_000143.4(FH):c.378+6A>G
|
rs1348359637
|
|
NM_000143.4(FH):c.378+7G>A
|
rs1486097527
|
|
NM_000143.4(FH):c.378+8G>A
|
rs1573886359
|
|
NM_000143.4(FH):c.378+8G>C
|
rs1573886359
|
|
NM_000143.4(FH):c.379-12T>C
|
|
|
NM_000143.4(FH):c.379-13A>G
|
|
|
NM_000143.4(FH):c.379-16A>G
|
|
|
NM_000143.4(FH):c.379-16A>T
|
rs2147922056
|
|
NM_000143.4(FH):c.379-17T>C
|
|
|
NM_000143.4(FH):c.379-17dup
|
rs1205896768
|
|
NM_000143.4(FH):c.379-19T>C
|
|
|
NM_000143.4(FH):c.379-1G>A
|
rs1553341623
|
|
NM_000143.4(FH):c.379-1G>C
|
rs1553341623
|
|
NM_000143.4(FH):c.379-4G>A
|
rs1660104141
|
|
NM_000143.4(FH):c.379-4G>T
|
|
|
NM_000143.4(FH):c.379-7dup
|
rs761444069
|
|
NM_000143.4(FH):c.379G>A (p.Val127Ile)
|
|
|
NM_000143.4(FH):c.379G>T (p.Val127Leu)
|
rs878853693
|
|
NM_000143.4(FH):c.37C>G (p.Pro13Ala)
|
rs587778360
|
|
NM_000143.4(FH):c.37C>T (p.Pro13Ser)
|
rs587778360
|
|
NM_000143.4(FH):c.37_92del (p.Pro13fs)
|
rs2147926916
|
|
NM_000143.4(FH):c.382G>A (p.Ala128Thr)
|
rs1553341620
|
|
NM_000143.4(FH):c.383C>T (p.Ala128Val)
|
|
|
NM_000143.4(FH):c.384T>C (p.Ala128=)
|
|
|
NM_000143.4(FH):c.389G>A (p.Gly130Asp)
|
|
|
NM_000143.4(FH):c.393A>G (p.Lys131=)
|
|
|
NM_000143.4(FH):c.393A>T (p.Lys131Asn)
|
rs2147922022
|
|
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)
|
rs863223995
|
|
NM_000143.4(FH):c.39C>A (p.Pro13=)
|
rs1060504077
|
|
NM_000143.4(FH):c.39C>G (p.Pro13=)
|
rs1060504077
|
|
NM_000143.4(FH):c.3G>A (p.Met1Ile)
|
rs564147469
|
|
NM_000143.4(FH):c.3G>C (p.Met1Ile)
|
rs564147469
|
|
NM_000143.4(FH):c.402T>C (p.Asp134=)
|
|
|
NM_000143.4(FH):c.403C>T (p.His135Tyr)
|
rs1553341617
|
|
NM_000143.4(FH):c.404A>C (p.His135Pro)
|
rs786202833
|
|
NM_000143.4(FH):c.404A>G (p.His135Arg)
|
rs786202833
|
|
NM_000143.4(FH):c.409C>T (p.Pro137Ser)
|
|
|
NM_000143.4(FH):c.40C>G (p.Leu14Val)
|
|
|
NM_000143.4(FH):c.40del (p.Leu14fs)
|
|
|
NM_000143.4(FH):c.40dup (p.Leu14fs)
|
rs1060500900
|
|
NM_000143.4(FH):c.410C>G (p.Pro137Arg)
|
rs1660101853
|
|
NM_000143.4(FH):c.410C>T (p.Pro137Leu)
|
rs1660101853
|
|
NM_000143.4(FH):c.411T>A (p.Pro137=)
|
|
|
NM_000143.4(FH):c.414C>G (p.Leu138=)
|
rs540968725
|
|
NM_000143.4(FH):c.415G>C (p.Val139Leu)
|
rs200343823
|
|
NM_000143.4(FH):c.416T>G (p.Val139Gly)
|
rs1573885528
|
|
NM_000143.4(FH):c.418G>C (p.Val140Leu)
|
rs746195750
|
|
NM_000143.4(FH):c.418del (p.Val140fs)
|
rs1573885519
|
|
NM_000143.4(FH):c.421del (p.Trp141fs)
|
|
|
NM_000143.4(FH):c.424C>T (p.Gln142Ter)
|
rs1355199594
|
|
NM_000143.4(FH):c.425A>G (p.Gln142Arg)
|
rs1573885503
|
|
NM_000143.4(FH):c.426G>A (p.Gln142=)
|
rs1660100845
|
|
NM_000143.4(FH):c.42C>T (p.Leu14=)
|
rs1660322230
|
|
NM_000143.4(FH):c.431G>T (p.Gly144Val)
|
rs1057521425
|
|
NM_000143.4(FH):c.431del (p.Gly144fs)
|
rs1660100641
|
|
NM_000143.4(FH):c.434C>G (p.Ser145Ter)
|
rs1573885482
|
|
NM_000143.4(FH):c.434C>T (p.Ser145Leu)
|
rs1573885482
|
|
NM_000143.4(FH):c.437G>A (p.Gly146Glu)
|
rs11545654
|
|
NM_000143.4(FH):c.438A>T (p.Gly146=)
|
rs2147921924
|
|
NM_000143.4(FH):c.439A>G (p.Thr147Ala)
|
rs863223983
|
|
NM_000143.4(FH):c.439dup (p.Thr147fs)
|
rs1060499633
|
|
NM_000143.4(FH):c.43G>A (p.Val15Met)
|
|
|
NM_000143.4(FH):c.43G>C (p.Val15Leu)
|
|
|
NM_000143.4(FH):c.442C>T (p.Gln148Ter)
|
rs1558400571
|
|
NM_000143.4(FH):c.443dup (p.Thr149fs)
|
rs1553341610
|
|
NM_000143.4(FH):c.446C>A (p.Thr149Lys)
|
|
|
NM_000143.4(FH):c.448A>C (p.Asn150His)
|
rs1660099527
|
|
NM_000143.4(FH):c.448A>G (p.Asn150Asp)
|
rs1660099527
|
|
NM_000143.4(FH):c.44T>C (p.Val15Ala)
|
rs1660322018
|
|
NM_000143.4(FH):c.450T>A (p.Asn150Lys)
|
rs1131691242
|
|
NM_000143.4(FH):c.452T>A (p.Met151Lys)
|
rs1660099266
|
|
NM_000143.4(FH):c.459A>G (p.Val153=)
|
rs1260492902
|
|
NM_000143.4(FH):c.462T>C (p.Asn154=)
|
rs2147921891
|
|
NM_000143.4(FH):c.462T>G (p.Asn154Lys)
|
rs2147921891
|
|
NM_000143.4(FH):c.463G>A (p.Glu155Lys)
|
|
|
NM_000143.4(FH):c.464A>T (p.Glu155Val)
|
rs863224014
|
|
NM_000143.4(FH):c.469A>G (p.Ile157Val)
|
rs778399986
|
|
NM_000143.4(FH):c.470T>C (p.Ile157Thr)
|
rs2147921876
|
|
NM_000143.4(FH):c.473G>A (p.Ser158Asn)
|
rs1060500902
|
|
NM_000143.4(FH):c.473G>T (p.Ser158Ile)
|
rs1060500902
|
|
NM_000143.4(FH):c.473_474delinsAA (p.Ser158Lys)
|
|
|
NM_000143.4(FH):c.477T>C (p.Asn159=)
|
rs372913738
|
|
NM_000143.4(FH):c.478A>G (p.Arg160Gly)
|
rs878853694
|
|
NM_000143.4(FH):c.479G>C (p.Arg160Thr)
|
|
|
NM_000143.4(FH):c.47G>A (p.Arg16Gln)
|
|
|
NM_000143.4(FH):c.480A>G (p.Arg160=)
|
rs2147921868
|
|
NM_000143.4(FH):c.480A>T (p.Arg160Ser)
|
|
|
NM_000143.4(FH):c.481G>A (p.Ala161Thr)
|
rs1573885421
|
|
NM_000143.4(FH):c.481G>C (p.Ala161Pro)
|
|
|
NM_000143.4(FH):c.482C>T (p.Ala161Val)
|
rs1307815197
|
|
NM_000143.4(FH):c.484A>G (p.Ile162Val)
|
rs2147921864
|
|
NM_000143.4(FH):c.484del (p.Ile162fs)
|
rs1660098180
|
|
NM_000143.4(FH):c.488A>G (p.Glu163Gly)
|
|
|
NM_000143.4(FH):c.48G>A (p.Arg16=)
|
rs1468361143
|
|
NM_000143.4(FH):c.490A>G (p.Met164Val)
|
rs1660097952
|
|
NM_000143.4(FH):c.490del (p.Met164fs)
|
|
|
NM_000143.4(FH):c.491T>G (p.Met164Arg)
|
|
|
NM_000143.4(FH):c.494T>G (p.Leu165Ter)
|
|
|
NM_000143.4(FH):c.495AGG[1] (p.Gly167del)
|
rs1660097679
|
|
NM_000143.4(FH):c.496G>A (p.Gly166Arg)
|
rs1660097824
|
|
NM_000143.4(FH):c.497G>A (p.Gly166Glu)
|
rs746612719
|
|
NM_000143.4(FH):c.498A>G (p.Gly166=)
|
rs2147921845
|
|
NM_000143.4(FH):c.499G>T (p.Gly167Cys)
|
|
|
NM_000143.4(FH):c.4T>A (p.Tyr2Asn)
|
rs112335468
|
|
NM_000143.4(FH):c.500G>T (p.Gly167Val)
|
rs1558400520
|
|
NM_000143.4(FH):c.501T>C (p.Gly167=)
|
|
|
NM_000143.4(FH):c.502G>C (p.Glu168Gln)
|
rs1573885382
|
|
NM_000143.4(FH):c.503A>T (p.Glu168Val)
|
|
|
NM_000143.4(FH):c.504del (p.Glu168fs)
|
rs776190273
|
|
NM_000143.4(FH):c.507T>G (p.Leu169=)
|
|
|
NM_000143.4(FH):c.509G>A (p.Gly170Asp)
|
rs1573885360
|
|
NM_000143.4(FH):c.512G>A (p.Ser171Asn)
|
rs1157774951
|
|
NM_000143.4(FH):c.513C>G (p.Ser171Arg)
|
rs1660097007
|
|
NM_000143.4(FH):c.515A>G (p.Lys172Arg)
|
rs2147921824
|
|
NM_000143.4(FH):c.517A>T (p.Ile173Leu)
|
rs1558400504
|
|
NM_000143.4(FH):c.51T>C (p.Ala17=)
|
|
|
NM_000143.4(FH):c.521C>A (p.Pro174His)
|
rs199822819
|
|
NM_000143.4(FH):c.522T>C (p.Pro174=)
|
rs1365119112
|
|
NM_000143.4(FH):c.525G>A (p.Val175=)
|
rs1553341592
|
|
NM_000143.4(FH):c.526C>G (p.His176Asp)
|
|
|
NM_000143.4(FH):c.526C>T (p.His176Tyr)
|
|
|
NM_000143.4(FH):c.527A>G (p.His176Arg)
|
rs1158759883
|
|
NM_000143.4(FH):c.527A>T (p.His176Leu)
|
rs1158759883
|
|
NM_000143.4(FH):c.52C>G (p.Pro18Ala)
|
rs1660321288
|
|
NM_000143.4(FH):c.530C>G (p.Pro177Arg)
|
rs2147921795
|
|
NM_000143.4(FH):c.531C>G (p.Pro177=)
|
rs202056137
|
|
NM_000143.4(FH):c.532_555+7del
|
rs2147921728
|
|
NM_000143.4(FH):c.533A>G (p.Asn178Ser)
|
rs2147921789
|
|
NM_000143.4(FH):c.534C>A (p.Asn178Lys)
|
rs375878939
|
|
NM_000143.4(FH):c.535G>A (p.Asp179Asn)
|
rs1553341588
|
|
NM_000143.4(FH):c.535G>T (p.Asp179Tyr)
|
rs1553341588
|
|
NM_000143.4(FH):c.536A>G (p.Asp179Gly)
|
rs2147921775
|
|
NM_000143.4(FH):c.538C>T (p.His180Tyr)
|
|
|
NM_000143.4(FH):c.539A>G (p.His180Arg)
|
rs863224015
|
|
NM_000143.4(FH):c.539A>T (p.His180Leu)
|
rs863224015
|
|
NM_000143.4(FH):c.541G>A (p.Val181Ile)
|
|
|
NM_000143.4(FH):c.543T>C (p.Val181=)
|
rs2147921766
|
|
NM_000143.4(FH):c.545A>G (p.Asn182Ser)
|
rs1558400468
|
|
NM_000143.4(FH):c.546T>C (p.Asn182=)
|
|
|
NM_000143.4(FH):c.547A>G (p.Lys183Glu)
|
rs2147921763
|
|
NM_000143.4(FH):c.54A>T (p.Pro18=)
|
rs1660321087
|
|
NM_000143.4(FH):c.551G>C (p.Ser184Thr)
|
rs750316531
|
|
NM_000143.4(FH):c.552C>G (p.Ser184Arg)
|
rs377660762
|
|
NM_000143.4(FH):c.554A>C (p.Gln185Pro)
|
rs779707997
|
|
NM_000143.4(FH):c.554A>G (p.Gln185Arg)
|
rs779707997
|
|
NM_000143.4(FH):c.555+10T>C
|
|
|
NM_000143.4(FH):c.555+14_555+16del
|
|
|
NM_000143.4(FH):c.555+19C>A
|
|
|
NM_000143.4(FH):c.555+1G>A
|
rs1375252870
|
|
NM_000143.4(FH):c.555+20T>A
|
|
|
NM_000143.4(FH):c.555+20T>C
|
rs200874899
|
|
NM_000143.4(FH):c.555+22dup
|
rs569920379
|
|
NM_000143.4(FH):c.555+3C>A
|
rs1660094654
|
|
NM_000143.4(FH):c.555+3del
|
rs1553341583
|
|
NM_000143.4(FH):c.555+4A>G
|
rs776240700
|
|
NM_000143.4(FH):c.555+5G>C
|
rs1553341582
|
|
NM_000143.4(FH):c.555+5G>T
|
|
|
NM_000143.4(FH):c.555+7A>G
|
|
|
NM_000143.4(FH):c.555+7_555+8delinsTA
|
|
|
NM_000143.4(FH):c.555+8T>A
|
|
|
NM_000143.4(FH):c.555+9G>A
|
|
|
NM_000143.4(FH):c.555+9G>T
|
rs2147921724
|
|
NM_000143.4(FH):c.555+9_555+10insA
|
|
|
NM_000143.4(FH):c.555+9del
|
|
|
NM_000143.4(FH):c.555G>T (p.Gln185His)
|
rs1660094798
|
|
NM_000143.4(FH):c.556-17T>C
|
|
|
NM_000143.4(FH):c.556-18T>C
|
|
|
NM_000143.4(FH):c.556-19T>G
|
|
|
NM_000143.4(FH):c.556-1G>C
|
rs794727698
|
|
NM_000143.4(FH):c.556-2A>C
|
|
|
NM_000143.4(FH):c.556-2A>G
|
rs750273092
|
|
NM_000143.4(FH):c.556-2A>T
|
rs750273092
|
|
NM_000143.4(FH):c.556-3_562del
|
rs1659999374
|
|
NM_000143.4(FH):c.556-5A>C
|
|
|
NM_000143.4(FH):c.556-6C>G
|
|
|
NM_000143.4(FH):c.556-6C>T
|
rs1278315587
|
|
NM_000143.4(FH):c.556-7C>T
|
rs780483420
|
|
NM_000143.4(FH):c.556-9T>C
|
|
|
NM_000143.4(FH):c.556-9_556-2del
|
|
|
NM_000143.4(FH):c.557G>A (p.Ser186Asn)
|
rs587782618
|
|
NM_000143.4(FH):c.557del (p.Ser186fs)
|
rs1659999781
|
|
NM_000143.4(FH):c.558C>T (p.Ser186=)
|
rs2147919721
|
|
NM_000143.4(FH):c.55G>A (p.Ala19Thr)
|
|
|
NM_000143.4(FH):c.560C>A (p.Ser187Ter)
|
rs398123166
|
|
NM_000143.4(FH):c.560C>T (p.Ser187Leu)
|
rs398123166
|
|
NM_000143.4(FH):c.563A>T (p.Asn188Ile)
|
rs2147919711
|
|
NM_000143.4(FH):c.564_587delinsG (p.Asn188fs)
|
rs1573883310
|
|
NM_000143.4(FH):c.566A>T (p.Asp189Val)
|
rs1064793125
|
|
NM_000143.4(FH):c.567T>C (p.Asp189=)
|
rs2147919705
|
|
NM_000143.4(FH):c.568A>G (p.Thr190Ala)
|
|
|
NM_000143.4(FH):c.568_569del (p.Thr190fs)
|
rs1553341367
|
|
NM_000143.4(FH):c.569C>T (p.Thr190Ile)
|
rs2147919703
|
|
NM_000143.4(FH):c.570T>A (p.Thr190=)
|
|
|
NM_000143.4(FH):c.574C>G (p.Pro192Ala)
|
rs1573883345
|
|
NM_000143.4(FH):c.574C>T (p.Pro192Ser)
|
rs1573883345
|
|
NM_000143.4(FH):c.575C>T (p.Pro192Leu)
|
rs1573883342
|
|
NM_000143.4(FH):c.576C>A (p.Pro192=)
|
rs1413797947
|
|
NM_000143.4(FH):c.576C>G (p.Pro192=)
|
rs1413797947
|
|
NM_000143.4(FH):c.577A>G (p.Thr193Ala)
|
rs2147919685
|
|
NM_000143.4(FH):c.578C>T (p.Thr193Ile)
|
rs1573883332
|
|
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del)
|
rs1060499635
|
|
NM_000143.4(FH):c.57C>A (p.Ala19=)
|
rs1469317078
|
|
NM_000143.4(FH):c.57C>G (p.Ala19=)
|
|
|
NM_000143.4(FH):c.57C>T (p.Ala19=)
|
rs1469317078
|
|
NM_000143.4(FH):c.580G>T (p.Ala194Ser)
|
rs587782215
|
|
NM_000143.4(FH):c.581C>A (p.Ala194Glu)
|
rs1558399442
|
|
NM_000143.4(FH):c.582A>C (p.Ala194=)
|
|
|
NM_000143.4(FH):c.584T>C (p.Met195Thr)
|
rs863223965
|
|
NM_000143.4(FH):c.586C>T (p.His196Tyr)
|
rs1553341363
|
|
NM_000143.4(FH):c.589A>C (p.Ile197Leu)
|
rs201764931
|
|
NM_000143.4(FH):c.589A>T (p.Ile197Phe)
|
rs201764931
|
|
NM_000143.4(FH):c.58G>C (p.Ala20Pro)
|
|
|
NM_000143.4(FH):c.58G>T (p.Ala20Ser)
|
|
|
NM_000143.4(FH):c.591TGC[2] (p.Ala200del)
|
rs786202907
|
|
NM_000143.4(FH):c.593C>G (p.Ala198Gly)
|
rs1414507017
|
|
NM_000143.4(FH):c.597del (p.Ala200fs)
|
|
|
NM_000143.4(FH):c.598G>A (p.Ala200Thr)
|
|
|
NM_000143.4(FH):c.599C>T (p.Ala200Val)
|
rs1659997677
|
|
NM_000143.4(FH):c.59C>G (p.Ala20Gly)
|
|
|
NM_000143.4(FH):c.59C>T (p.Ala20Val)
|
rs1573889953
|
|
NM_000143.4(FH):c.5dup (p.Tyr2Ter)
|
rs1573890070
|
|
NM_000143.4(FH):c.600A>C (p.Ala200=)
|
rs1490011492
|
|
NM_000143.4(FH):c.600A>G (p.Ala200=)
|
rs1490011492
|
|
NM_000143.4(FH):c.601A>G (p.Ile201Val)
|
rs1659997422
|
|
NM_000143.4(FH):c.602T>C (p.Ile201Thr)
|
rs1476664795
|
|
NM_000143.4(FH):c.603A>G (p.Ile201Met)
|
rs2147919643
|
|
NM_000143.4(FH):c.604G>A (p.Glu202Lys)
|
|
|
NM_000143.4(FH):c.607G>A (p.Val203Ile)
|
|
|
NM_000143.4(FH):c.607G>T (p.Val203Phe)
|
|
|
NM_000143.4(FH):c.608T>G (p.Val203Gly)
|
rs200796921
|
|
NM_000143.4(FH):c.609T>C (p.Val203=)
|
|
|
NM_000143.4(FH):c.609T>G (p.Val203=)
|
rs2147919632
|
|
NM_000143.4(FH):c.60A>G (p.Ala20=)
|
|
|
NM_000143.4(FH):c.610C>A (p.His204Asn)
|
rs863223996
|
|
NM_000143.4(FH):c.611A>G (p.His204Arg)
|
rs1060500898
|
|
NM_000143.4(FH):c.612T>A (p.His204Gln)
|
rs1424868653
|
|
NM_000143.4(FH):c.612T>G (p.His204Gln)
|
rs1424868653
|
|
NM_000143.4(FH):c.616G>T (p.Val206Leu)
|
rs763183520
|
|
NM_000143.4(FH):c.618A>C (p.Val206=)
|
rs2147919618
|
|
NM_000143.4(FH):c.618A>G (p.Val206=)
|
|
|
NM_000143.4(FH):c.619C>T (p.Leu207=)
|
rs1659995971
|
|
NM_000143.4(FH):c.61G>C (p.Ala21Pro)
|
|
|
NM_000143.4(FH):c.620T>C (p.Leu207Pro)
|
rs1060500894
|
|
NM_000143.4(FH):c.621G>A (p.Leu207=)
|
rs1210947784
|
|
NM_000143.4(FH):c.622T>G (p.Leu208Val)
|
|
|
NM_000143.4(FH):c.623T>C (p.Leu208Ser)
|
|
|
NM_000143.4(FH):c.62C>A (p.Ala21Asp)
|
|
|
NM_000143.4(FH):c.62C>T (p.Ala21Val)
|
rs1131691251
|
|
NM_000143.4(FH):c.633A>G (p.Leu211=)
|
rs2147919592
|
|
NM_000143.4(FH):c.634C>G (p.Gln212Glu)
|
rs1553341353
|
|
NM_000143.4(FH):c.634C>T (p.Gln212Ter)
|
rs1553341353
|
|
NM_000143.4(FH):c.634del (p.Gln212fs)
|
rs2147919590
|
|
NM_000143.4(FH):c.636G>A (p.Gln212=)
|
rs1270956851
|
|
NM_000143.4(FH):c.636G>C (p.Gln212His)
|
rs1270956851
|
|
NM_000143.4(FH):c.637A>G (p.Lys213Glu)
|
|
|
NM_000143.4(FH):c.638A>G (p.Lys213Arg)
|
rs1659995341
|
|
NM_000143.4(FH):c.640_641insACAGAAG (p.Leu214fs)
|
|
|
NM_000143.4(FH):c.644A>G (p.His215Arg)
|
|
|
NM_000143.4(FH):c.644A>T (p.His215Leu)
|
rs770141324
|
|
NM_000143.4(FH):c.647A>C (p.Asp216Ala)
|
|
|
NM_000143.4(FH):c.647A>T (p.Asp216Val)
|
rs1553341348
|
|
NM_000143.4(FH):c.648T>G (p.Asp216Glu)
|
rs199536615
|
|
NM_000143.4(FH):c.649G>T (p.Ala217Ser)
|
|
|
NM_000143.4(FH):c.650C>T (p.Ala217Val)
|
|
|
NM_000143.4(FH):c.651T>C (p.Ala217=)
|
|
|
NM_000143.4(FH):c.653T>C (p.Leu218Pro)
|
rs1553341345
|
|
NM_000143.4(FH):c.654T>G (p.Leu218=)
|
|
|
NM_000143.4(FH):c.657T>G (p.Asp219Glu)
|
rs995196012
|
|
NM_000143.4(FH):c.658_659delinsTT (p.Ala220Leu)
|
rs1060500893
|
|
NM_000143.4(FH):c.659C>G (p.Ala220Gly)
|
rs758678272
|
|
NM_000143.4(FH):c.65T>A (p.Leu22Ter)
|
rs1031919395
|
|
NM_000143.4(FH):c.65T>C (p.Leu22Ser)
|
rs1031919395
|
|
NM_000143.4(FH):c.661A>G (p.Lys221Glu)
|
|
|
NM_000143.4(FH):c.662A>T (p.Lys221Ile)
|
rs2147919540
|
|
NM_000143.4(FH):c.667A>G (p.Lys223Glu)
|
|
|
NM_000143.4(FH):c.667A>T (p.Lys223Ter)
|
rs2147919525
|
|
NM_000143.4(FH):c.668A>C (p.Lys223Thr)
|
rs1064795294
|
|
NM_000143.4(FH):c.668A>G (p.Lys223Arg)
|
rs1064795294
|
|
NM_000143.4(FH):c.668A>T (p.Lys223Ile)
|
rs1064795294
|
|
NM_000143.4(FH):c.668_669del (p.Lys223fs)
|
rs886039364
|
|
NM_000143.4(FH):c.669A>G (p.Lys223=)
|
rs1573883183
|
|
NM_000143.4(FH):c.66A>C (p.Leu22Phe)
|
|
|
NM_000143.4(FH):c.670G>A (p.Glu224Lys)
|
rs1060500905
|
|
NM_000143.4(FH):c.671_672del (p.Glu224fs)
|
rs780001199
|
|
NM_000143.4(FH):c.672G>C (p.Glu224Asp)
|
|
|
NM_000143.4(FH):c.674T>C (p.Phe225Ser)
|
rs149651434
|
|
NM_000143.4(FH):c.674_675del (p.Phe225fs)
|
rs1553341337
|
|
NM_000143.4(FH):c.675T>A (p.Phe225Leu)
|
rs1270246282
|
|
NM_000143.4(FH):c.675del (p.Phe225fs)
|
rs1553341337
|
|
NM_000143.4(FH):c.677C>A (p.Ala226Glu)
|
rs778786425
|
|
NM_000143.4(FH):c.677C>T (p.Ala226Val)
|
|
|
NM_000143.4(FH):c.678A>G (p.Ala226=)
|
rs757078832
|
|
NM_000143.4(FH):c.679C>T (p.Gln227Ter)
|
rs11545658
|
|
NM_000143.4(FH):c.67G>A (p.Ala23Thr)
|
rs1573889943
|
|
NM_000143.4(FH):c.680A>G (p.Gln227Arg)
|
|
|
NM_000143.4(FH):c.683T>C (p.Ile228Thr)
|
rs753773918
|
|
NM_000143.4(FH):c.687C>G (p.Ile229Met)
|
rs755587163
|
|
NM_000143.4(FH):c.687C>T (p.Ile229=)
|
|
|
NM_000143.4(FH):c.688A>C (p.Lys230Gln)
|
rs863223967
|
|
NM_000143.4(FH):c.688A>G (p.Lys230Glu)
|
rs863223967
|
|
NM_000143.4(FH):c.689A>G (p.Lys230Arg)
|
rs752232718
|
|
NM_000143.4(FH):c.68C>T (p.Ala23Val)
|
rs2147926968
|
|
NM_000143.4(FH):c.690G>C (p.Lys230Asn)
|
rs2147919465
|
|
NM_000143.4(FH):c.691A>C (p.Ile231Leu)
|
rs1659991322
|
|
NM_000143.4(FH):c.691A>G (p.Ile231Val)
|
rs1659991322
|
|
NM_000143.4(FH):c.692T>C (p.Ile231Thr)
|
rs1335587342
|
|
NM_000143.4(FH):c.697C>G (p.Arg233Gly)
|
rs587781682
|
|
NM_000143.4(FH):c.698G>C (p.Arg233Pro)
|
rs121913123
|
|
NM_000143.4(FH):c.698G>T (p.Arg233Leu)
|
rs121913123
|
|
NM_000143.4(FH):c.6C>G (p.Tyr2Ter)
|
rs199971078
|
|
NM_000143.4(FH):c.700A>C (p.Thr234Pro)
|
rs372505976
|
|
NM_000143.4(FH):c.700A>T (p.Thr234Ser)
|
|
|
NM_000143.4(FH):c.701C>A (p.Thr234Asn)
|
|
|
NM_000143.4(FH):c.701C>T (p.Thr234Ile)
|
rs878853695
|
|
NM_000143.4(FH):c.702T>A (p.Thr234=)
|
|
|
NM_000143.4(FH):c.703C>A (p.His235Asn)
|
|
|
NM_000143.4(FH):c.703C>G (p.His235Asp)
|
rs863223968
|
|
NM_000143.4(FH):c.703C>T (p.His235Tyr)
|
rs863223968
|
|
NM_000143.4(FH):c.704A>G (p.His235Arg)
|
rs1659990191
|
|
NM_000143.4(FH):c.705T>C (p.His235=)
|
rs919993170
|
|
NM_000143.4(FH):c.705T>G (p.His235Gln)
|
rs919993170
|
|
NM_000143.4(FH):c.706A>G (p.Thr236Ala)
|
rs1064793126
|
|
NM_000143.4(FH):c.707C>T (p.Thr236Ile)
|
rs773382103
|
|
NM_000143.4(FH):c.708T>G (p.Thr236=)
|
|
|
NM_000143.4(FH):c.70T>A (p.Ser24Thr)
|
|
|
NM_000143.4(FH):c.710A>G (p.Gln237Arg)
|
|
|
NM_000143.4(FH):c.711G>A (p.Gln237=)
|
rs1659989732
|
|
NM_000143.4(FH):c.712G>A (p.Asp238Asn)
|
rs1659989676
|
|
NM_000143.4(FH):c.712G>C (p.Asp238His)
|
|
|
NM_000143.4(FH):c.714T>C (p.Asp238=)
|
rs2147919423
|
|
NM_000143.4(FH):c.718G>C (p.Val240Leu)
|
rs1291740270
|
|
NM_000143.4(FH):c.718G>T (p.Val240Phe)
|
|
|
NM_000143.4(FH):c.721C>G (p.Pro241Ala)
|
rs1349419396
|
|
NM_000143.4(FH):c.722C>T (p.Pro241Leu)
|
rs1553341319
|
|
NM_000143.4(FH):c.722_738+3del
|
rs1064792900
|
|
NM_000143.4(FH):c.723A>G (p.Pro241=)
|
rs2147919405
|
|
NM_000143.4(FH):c.723_724del (p.Leu242fs)
|
rs2147919403
|
|
NM_000143.4(FH):c.727dup (p.Thr243fs)
|
|
|
NM_000143.4(FH):c.72G>C (p.Ser24=)
|
|
|
NM_000143.4(FH):c.72G>T (p.Ser24=)
|
|
|
NM_000143.4(FH):c.730C>T (p.Leu244Phe)
|
|
|
NM_000143.4(FH):c.731T>C (p.Leu244Pro)
|
rs1060499636
|
|
NM_000143.4(FH):c.731T>G (p.Leu244Arg)
|
rs1060499636
|
|
NM_000143.4(FH):c.732T>C (p.Leu244=)
|
rs1277279137
|
|
NM_000143.4(FH):c.733G>A (p.Gly245Arg)
|
rs1287444534
|
|
NM_000143.4(FH):c.734_735del (p.Gly245fs)
|
rs2147919385
|
|
NM_000143.4(FH):c.735G>C (p.Gly245=)
|
rs1448288377
|
|
NM_000143.4(FH):c.735_736delinsTT (p.Gln246Ter)
|
rs2147919380
|
|
NM_000143.4(FH):c.736C>T (p.Gln246Ter)
|
rs863223998
|
|
NM_000143.4(FH):c.737del (p.Gln246fs)
|
rs727503928
|
|
NM_000143.4(FH):c.738+11T>C
|
|
|
NM_000143.4(FH):c.738+13del
|
|
|
NM_000143.4(FH):c.738+15C>T
|
|
|
NM_000143.4(FH):c.738+17A>G
|
rs2147919358
|
|
NM_000143.4(FH):c.738+1G>A
|
rs1659988368
|
|
NM_000143.4(FH):c.738+1G>C
|
|
|
NM_000143.4(FH):c.738+1G>T
|
|
|
NM_000143.4(FH):c.738+20T>C
|
|
|
NM_000143.4(FH):c.738+2T>C
|
rs1060500901
|
|
NM_000143.4(FH):c.738+3A>G
|
rs1659988181
|
|
NM_000143.4(FH):c.738+5A>G
|
rs1258289679
|
|
NM_000143.4(FH):c.738+7G>C
|
|
|
NM_000143.4(FH):c.738+9G>A
|
rs1443246780
|
|
NM_000143.4(FH):c.738+9G>T
|
rs1443246780
|
|
NM_000143.4(FH):c.738G>A (p.Gln246=)
|
|
|
NM_000143.4(FH):c.738G>C (p.Gln246His)
|
rs2147919372
|
|
NM_000143.4(FH):c.739-10T>G
|
rs201971572
|
|
NM_000143.4(FH):c.739-12T>C
|
|
|
NM_000143.4(FH):c.739-12T>G
|
rs2147917795
|
|
NM_000143.4(FH):c.739-14del
|
|
|
NM_000143.4(FH):c.739-17TTTTC[2]
|
rs745617145
|
|
NM_000143.4(FH):c.739-1G>A
|
|
|
NM_000143.4(FH):c.739-200G>A
|
rs137943762
|
|
NM_000143.4(FH):c.739-2A>C
|
rs1553341174
|
|
NM_000143.4(FH):c.739-2A>G
|
rs1553341174
|
|
NM_000143.4(FH):c.739-5T>A
|
|
|
NM_000143.4(FH):c.739-9T>C
|
rs779074287
|
|
NM_000143.4(FH):c.739G>T (p.Glu247Ter)
|
rs1131691243
|
|
NM_000143.4(FH):c.73G>C (p.Ala25Pro)
|
|
|
NM_000143.4(FH):c.741A>G (p.Glu247=)
|
rs2147917775
|
|
NM_000143.4(FH):c.744T>C (p.Phe248=)
|
rs200094834
|
|
NM_000143.4(FH):c.747T>A (p.Ser249Arg)
|
|
|
NM_000143.4(FH):c.748G>C (p.Gly250Arg)
|
rs2147917765
|
|
NM_000143.4(FH):c.749G>C (p.Gly250Ala)
|
|
|
NM_000143.4(FH):c.749G>T (p.Gly250Val)
|
rs951611697
|
|
NM_000143.4(FH):c.74C>T (p.Ala25Val)
|
rs1573889933
|
|
NM_000143.4(FH):c.750T>C (p.Gly250=)
|
|
|
NM_000143.4(FH):c.754G>A (p.Val252Ile)
|
rs1353871297
|
|
NM_000143.4(FH):c.760C>T (p.Gln254Ter)
|
rs398123167
|
|
NM_000143.4(FH):c.763G>T (p.Val255Leu)
|
|
|
NM_000143.4(FH):c.767A>C (p.Lys256Thr)
|
rs978988174
|
|
NM_000143.4(FH):c.767A>G (p.Lys256Arg)
|
|
|
NM_000143.4(FH):c.768A>G (p.Lys256=)
|
|
|
NM_000143.4(FH):c.771T>G (p.Tyr257Ter)
|
|
|
NM_000143.4(FH):c.774A>G (p.Ala258=)
|
rs2147917743
|
|
NM_000143.4(FH):c.774A>T (p.Ala258=)
|
rs2147917743
|
|
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup)
|
rs863223984
|
|
NM_000143.4(FH):c.775A>C (p.Met259Leu)
|
rs1343775223
|
|
NM_000143.4(FH):c.777G>A (p.Met259Ile)
|
rs1044975651
|
|
NM_000143.4(FH):c.777_779del (p.Met259_Thr260delinsIle)
|
|
|
NM_000143.4(FH):c.779C>G (p.Thr260Arg)
|
rs1659924700
|
|
NM_000143.4(FH):c.780_781del (p.Arg261fs)
|
rs1659924638
|
|
NM_000143.4(FH):c.782G>T (p.Arg261Ile)
|
rs61736558
|
|
NM_000143.4(FH):c.783A>G (p.Arg261=)
|
rs1573881721
|
|
NM_000143.4(FH):c.784A>C (p.Ile262Leu)
|
rs199829765
|
|
NM_000143.4(FH):c.785T>G (p.Ile262Arg)
|
rs786203177
|
|
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)
|
rs786202220
|
|
NM_000143.4(FH):c.78C>T (p.Pro26=)
|
rs1029677665
|
|
NM_000143.4(FH):c.790G>C (p.Ala264Pro)
|
|
|
NM_000143.4(FH):c.791C>G (p.Ala264Gly)
|
|
|
NM_000143.4(FH):c.791C>T (p.Ala264Val)
|
|
|
NM_000143.4(FH):c.793G>C (p.Ala265Pro)
|
|
|
NM_000143.4(FH):c.793G>T (p.Ala265Ser)
|
|
|
NM_000143.4(FH):c.795C>T (p.Ala265=)
|
rs2147917699
|
|
NM_000143.4(FH):c.796A>G (p.Met266Val)
|
|
|
NM_000143.4(FH):c.796A>T (p.Met266Leu)
|
|
|
NM_000143.4(FH):c.797dup (p.Met266fs)
|
rs863223981
|
|
NM_000143.4(FH):c.7C>A (p.Arg3=)
|
|
|
NM_000143.4(FH):c.7C>T (p.Arg3Ter)
|
rs202166344
|
|
NM_000143.4(FH):c.801A>G (p.Pro267=)
|
|
|
NM_000143.4(FH):c.802A>G (p.Arg268Gly)
|
rs2147917678
|
|
NM_000143.4(FH):c.803G>T (p.Arg268Ile)
|
rs1659923371
|
|
NM_000143.4(FH):c.805del (p.Ile269fs)
|
rs1131691234
|
|
NM_000143.4(FH):c.807C>A (p.Ile269=)
|
rs2147917660
|
|
NM_000143.4(FH):c.807C>G (p.Ile269Met)
|
|
|
NM_000143.4(FH):c.807C>T (p.Ile269=)
|
rs2147917660
|
|
NM_000143.4(FH):c.808T>C (p.Tyr270His)
|
|
|
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer)
|
rs1553341163
|
|
NM_000143.4(FH):c.810T>C (p.Tyr270=)
|
|
|
NM_000143.4(FH):c.814C>A (p.Leu272Ile)
|
rs779019570
|
|
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del)
|
rs863223985
|
|
NM_000143.4(FH):c.81delinsAT (p.Leu28fs)
|
rs1553342155
|
|
NM_000143.4(FH):c.822dup (p.Gly275fs)
|
rs2147917619
|
|
NM_000143.4(FH):c.823G>A (p.Gly275Arg)
|
rs1060499639
|
|
NM_000143.4(FH):c.823G>C (p.Gly275Arg)
|
rs1060499639
|
|
NM_000143.4(FH):c.823G>T (p.Gly275Ter)
|
rs1060499639
|
|
NM_000143.4(FH):c.824_827dup (p.Thr277fs)
|
rs1659922131
|
|
NM_000143.4(FH):c.827G>A (p.Gly276Asp)
|
rs2147917609
|
|
NM_000143.4(FH):c.831T>C (p.Thr277=)
|
rs113349873
|
|
NM_000143.4(FH):c.838G>A (p.Gly280Ser)
|
rs1659921742
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
|
|
NM_000143.4(FH):c.83T>G (p.Leu28Trp)
|
|
|
NM_000143.4(FH):c.842C>T (p.Thr281Ile)
|
rs1573881633
|
|
NM_000143.4(FH):c.844G>C (p.Gly282Arg)
|
rs1573881629
|
|
NM_000143.4(FH):c.845G>T (p.Gly282Val)
|
rs935002190
|
|
NM_000143.4(FH):c.846T>C (p.Gly282=)
|
rs1474982294
|
|
NM_000143.4(FH):c.848T>C (p.Leu283Ser)
|
rs1659921346
|
|
NM_000143.4(FH):c.84_85delinsTT (p.Leu28_Gly29delinsPheCys)
|
|
|
NM_000143.4(FH):c.850A>G (p.Asn284Asp)
|
|
|
NM_000143.4(FH):c.852T>C (p.Asn284=)
|
rs759596203
|
|
NM_000143.4(FH):c.853A>T (p.Thr285Ser)
|
rs200791185
|
|
NM_000143.4(FH):c.855T>C (p.Thr285=)
|
rs1573881600
|
|
NM_000143.4(FH):c.856A>G (p.Arg286Gly)
|
|
|
NM_000143.4(FH):c.860T>C (p.Ile287Thr)
|
|
|
NM_000143.4(FH):c.861T>A (p.Ile287=)
|
|
|
NM_000143.4(FH):c.864C>T (p.Gly288=)
|
|
|
NM_000143.4(FH):c.866T>C (p.Phe289Ser)
|
|
|
NM_000143.4(FH):c.870A>G (p.Ala290=)
|
|
|
NM_000143.4(FH):c.872A>G (p.Glu291Gly)
|
rs2147917541
|
|
NM_000143.4(FH):c.874A>C (p.Lys292Gln)
|
rs771087739
|
|
NM_000143.4(FH):c.874A>G (p.Lys292Glu)
|
|
|
NM_000143.4(FH):c.876G>T (p.Lys292Asn)
|
rs2147917537
|
|
NM_000143.4(FH):c.877G>A (p.Val293Ile)
|
rs749029092
|
|
NM_000143.4(FH):c.879del (p.Ala294fs)
|
rs1131691622
|
|
NM_000143.4(FH):c.87_89del (p.Gly30del)
|
rs752879506
|
|
NM_000143.4(FH):c.880G>A (p.Ala294Thr)
|
rs1659920259
|
|
NM_000143.4(FH):c.885A>G (p.Ala295=)
|
rs199635833
|
|
NM_000143.4(FH):c.886A>G (p.Lys296Glu)
|
|
|
NM_000143.4(FH):c.887A>G (p.Lys296Arg)
|
rs933479705
|
|
NM_000143.4(FH):c.887_888del (p.Lys296fs)
|
rs2147917520
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000143.4(FH):c.893C>G (p.Ala298Gly)
|
rs1573881563
|
|
NM_000143.4(FH):c.893C>T (p.Ala298Val)
|
|
|
NM_000143.4(FH):c.893_904+7del
|
rs1573881533
|
|
NM_000143.4(FH):c.896C>T (p.Ala299Val)
|
rs2147917505
|
|
NM_000143.4(FH):c.897A>G (p.Ala299=)
|
rs1553341151
|
|
NM_000143.4(FH):c.89G>A (p.Gly30Asp)
|
|
|
NM_000143.4(FH):c.8G>A (p.Arg3Gln)
|
|
|
NM_000143.4(FH):c.8G>C (p.Arg3Pro)
|
rs1573890051
|
|
NM_000143.4(FH):c.900T>A (p.Leu300=)
|
rs1659919363
|
|
NM_000143.4(FH):c.900T>C (p.Leu300=)
|
rs1659919363
|
|
NM_000143.4(FH):c.901A>G (p.Thr301Ala)
|
rs1659918863
|
|
NM_000143.4(FH):c.901A>T (p.Thr301Ser)
|
|
|
NM_000143.4(FH):c.903A>C (p.Thr301=)
|
rs1659918712
|
|
NM_000143.4(FH):c.904+11A>C
|
rs2147917478
|
|
NM_000143.4(FH):c.904+11A>G
|
|
|
NM_000143.4(FH):c.904+12C>A
|
rs781047980
|
|
NM_000143.4(FH):c.904+14T>C
|
|
|
NM_000143.4(FH):c.904+17A>C
|
|
|
NM_000143.4(FH):c.904+18T>A
|
|
|
NM_000143.4(FH):c.904+1G>A
|
rs1553341148
|
|
NM_000143.4(FH):c.904+1G>T
|
rs1553341148
|
|
NM_000143.4(FH):c.904+20A>G
|
|
|
NM_000143.4(FH):c.904+2_904+3delinsGG
|
|
|
NM_000143.4(FH):c.904+2dup
|
rs1573881536
|
|
NM_000143.4(FH):c.904+5G>A
|
|
|
NM_000143.4(FH):c.904+9T>A
|
rs1467613193
|
|
NM_000143.4(FH):c.904+9T>G
|
rs1467613193
|
|
NM_000143.4(FH):c.904G>A (p.Gly302Ser)
|
rs200412958
|
|
NM_000143.4(FH):c.904G>C (p.Gly302Arg)
|
|
|
NM_000143.4(FH):c.905-12T>A
|
|
|
NM_000143.4(FH):c.905-12del
|
|
|
NM_000143.4(FH):c.905-14_905-12del
|
|
|
NM_000143.4(FH):c.905-17A>G
|
|
|
NM_000143.4(FH):c.905-19A>T
|
|
|
NM_000143.4(FH):c.905-1G>A
|
rs797044973
|
|
NM_000143.4(FH):c.905-20G>A
|
|
|
NM_000143.4(FH):c.905-2A>C
|
|
|
NM_000143.4(FH):c.905-3T>C
|
rs1573880626
|
|
NM_000143.4(FH):c.905-3_905-2insATTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_000143.4(FH):c.905-5T>A
|
rs886046318
|
|
NM_000143.4(FH):c.905-5T>C
|
rs886046318
|
|
NM_000143.4(FH):c.905-5_905-4insAAAA
|
|
|
NM_000143.4(FH):c.905-6C>T
|
rs2147916417
|
|
NM_000143.4(FH):c.905G>A (p.Gly302Asp)
|
rs1162334354
|
|
NM_000143.4(FH):c.905G>C (p.Gly302Ala)
|
|
|
NM_000143.4(FH):c.906C>T (p.Gly302=)
|
rs1573880617
|
|
NM_000143.4(FH):c.907T>C (p.Leu303=)
|
|
|
NM_000143.4(FH):c.907T>G (p.Leu303Val)
|
rs1057523697
|
|
NM_000143.4(FH):c.907_910del (p.Pro304fs)
|
|
|
NM_000143.4(FH):c.909_910del (p.Leu303fs)
|
rs2147916393
|
|
NM_000143.4(FH):c.910C>G (p.Pro304Ala)
|
|
|
NM_000143.4(FH):c.910C>T (p.Pro304Ser)
|
rs1659857790
|
|
NM_000143.4(FH):c.911C>G (p.Pro304Arg)
|
rs200491078
|
|
NM_000143.4(FH):c.912T>C (p.Pro304=)
|
rs1573880603
|
|
NM_000143.4(FH):c.912T>G (p.Pro304=)
|
rs1573880603
|
|
NM_000143.4(FH):c.912_918del (p.Phe305fs)
|
rs794727836
|
|
NM_000143.4(FH):c.915T>G (p.Phe305Leu)
|
rs2147916371
|
|
NM_000143.4(FH):c.916G>A (p.Val306Ile)
|
rs1659857390
|
|
NM_000143.4(FH):c.919del (p.Thr307fs)
|
rs1553341049
|
|
NM_000143.4(FH):c.922G>A (p.Ala308Thr)
|
rs121913118
|
|
NM_000143.4(FH):c.923C>T (p.Ala308Val)
|
|
|
NM_000143.4(FH):c.924T>G (p.Ala308=)
|
rs2147916343
|
|
NM_000143.4(FH):c.927G>C (p.Pro309=)
|
|
|
NM_000143.4(FH):c.92C>A (p.Ala31Glu)
|
rs876659347
|
|
NM_000143.4(FH):c.92C>T (p.Ala31Val)
|
rs876659347
|
|
NM_000143.4(FH):c.933del (p.Lys311fs)
|
rs2147916327
|
|
NM_000143.4(FH):c.934T>C (p.Phe312Leu)
|
rs863224000
|
|
NM_000143.4(FH):c.934T>G (p.Phe312Val)
|
rs863224000
|
|
NM_000143.4(FH):c.935T>C (p.Phe312Ser)
|
rs1553341046
|
|
NM_000143.4(FH):c.935T>G (p.Phe312Cys)
|
rs1553341046
|
|
NM_000143.4(FH):c.936T>C (p.Phe312=)
|
|
|
NM_000143.4(FH):c.936T>G (p.Phe312Leu)
|
rs2147916319
|
|
NM_000143.4(FH):c.936del (p.Phe312fs)
|
rs2147916324
|
|
NM_000143.4(FH):c.937G>A (p.Glu313Lys)
|
rs863224001
|
|
NM_000143.4(FH):c.937G>T (p.Glu313Ter)
|
rs863224001
|
|
NM_000143.4(FH):c.939del (p.Ala314fs)
|
|
|
NM_000143.4(FH):c.93G>T (p.Ala31=)
|
|
|
NM_000143.4(FH):c.940G>A (p.Ala314Thr)
|
|
|
NM_000143.4(FH):c.941C>G (p.Ala314Gly)
|
rs1659856002
|
|
NM_000143.4(FH):c.942T>C (p.Ala314=)
|
|
|
NM_000143.4(FH):c.943C>G (p.Leu315Val)
|
rs1573880536
|
|
NM_000143.4(FH):c.943C>T (p.Leu315=)
|
rs1573880536
|
|
NM_000143.4(FH):c.944T>C (p.Leu315Pro)
|
rs1573880531
|
|
NM_000143.4(FH):c.944_945del (p.Leu315fs)
|
rs886042044
|
|
NM_000143.4(FH):c.947C>A (p.Ala316Asp)
|
rs863224002
|
|
NM_000143.4(FH):c.947C>T (p.Ala316Val)
|
|
|
NM_000143.4(FH):c.94G>A (p.Ala32Thr)
|
rs1371664717
|
|
NM_000143.4(FH):c.94G>C (p.Ala32Pro)
|
|
|
NM_000143.4(FH):c.94G>T (p.Ala32Ser)
|
rs1371664717
|
|
NM_000143.4(FH):c.950C>T (p.Ala317Val)
|
rs2147916281
|
|
NM_000143.4(FH):c.951T>C (p.Ala317=)
|
rs1659855471
|
|
NM_000143.4(FH):c.952C>T (p.His318Tyr)
|
rs398123168
|
|
NM_000143.4(FH):c.953A>T (p.His318Leu)
|
rs755449276
|
|
NM_000143.4(FH):c.955G>A (p.Asp319Asn)
|
|
|
NM_000143.4(FH):c.956A>G (p.Asp319Gly)
|
rs1659855240
|
|
NM_000143.4(FH):c.956A>T (p.Asp319Val)
|
|
|
NM_000143.4(FH):c.958G>A (p.Ala320Thr)
|
|
|
NM_000143.4(FH):c.958G>C (p.Ala320Pro)
|
|
|
NM_000143.4(FH):c.958G>T (p.Ala320Ser)
|
rs766441385
|
|
NM_000143.4(FH):c.95C>G (p.Ala32Gly)
|
rs2147926910
|
|
NM_000143.4(FH):c.95C>T (p.Ala32Val)
|
rs2147926910
|
|
NM_000143.4(FH):c.960T>G (p.Ala320=)
|
|
|
NM_000143.4(FH):c.965T>G (p.Val322Gly)
|
rs863224003
|
|
NM_000143.4(FH):c.967G>A (p.Glu323Lys)
|
rs2147916256
|
|
NM_000143.4(FH):c.96C>G (p.Ala32=)
|
rs750087000
|
|
NM_000143.4(FH):c.96C>T (p.Ala32=)
|
|
|
NM_000143.4(FH):c.973A>G (p.Ser325Gly)
|
|
|
NM_000143.4(FH):c.973A>T (p.Ser325Cys)
|
rs201124581
|
|
NM_000143.4(FH):c.974G>A (p.Ser325Asn)
|
rs1423324601
|
|
NM_000143.4(FH):c.976G>A (p.Gly326Arg)
|
rs1553341038
|
|
NM_000143.4(FH):c.977G>A (p.Gly326Glu)
|
rs1553341037
|
|
NM_000143.4(FH):c.979G>A (p.Ala327Thr)
|
rs1333344957
|
|
NM_000143.4(FH):c.980C>T (p.Ala327Val)
|
rs1659854224
|
|
NM_000143.4(FH):c.981C>T (p.Ala327=)
|
rs1060504078
|
|
NM_000143.4(FH):c.982A>C (p.Met328Leu)
|
|
|
NM_000143.4(FH):c.982A>G (p.Met328Val)
|
rs146816517
|
|
NM_000143.4(FH):c.983T>C (p.Met328Thr)
|
|
|
NM_000143.4(FH):c.983T>G (p.Met328Arg)
|
rs2147916225
|
|
NM_000143.4(FH):c.985A>C (p.Asn329His)
|
|
|
NM_000143.4(FH):c.988A>C (p.Thr330Pro)
|
rs776313200
|
|
NM_000143.4(FH):c.988A>G (p.Thr330Ala)
|
rs776313200
|
|
NM_000143.4(FH):c.989C>G (p.Thr330Ser)
|
rs200028270
|
|
NM_000143.4(FH):c.989C>T (p.Thr330Ile)
|
rs200028270
|
|
NM_000143.4(FH):c.990T>G (p.Thr330=)
|
rs1659853439
|
|
NM_000143.4(FH):c.991A>G (p.Thr331Ala)
|
rs1459131048
|
|
NM_000143.4(FH):c.991dup (p.Thr331fs)
|
rs1553341034
|
|
NM_000143.4(FH):c.995C>T (p.Ala332Val)
|
|
|
NM_000143.4(FH):c.998G>A (p.Cys333Tyr)
|
rs1553341032
|
|
NM_000143.4(FH):c.999C>A (p.Cys333Ter)
|
rs1553341031
|
|
NM_000143.4(FH):c.999C>T (p.Cys333=)
|
rs1553341031
|
|
NM_000143.4(FH):c.99G>A (p.Val33=)
|
|
|