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.927G>A (p.Pro309=)
|
rs61737760
|
0.02428
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
NM_000143.4(FH):c.1236+14C>T
|
rs149241949
|
0.00157
|
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.7C>G (p.Arg3Gly)
|
rs202166344
|
0.00022
|
NM_000143.4(FH):c.1303G>A (p.Val435Met)
|
rs147528200
|
0.00021
|
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.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.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.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.21C>T (p.Leu7=)
|
rs1263147931
|
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.698G>A (p.Arg233His)
|
rs121913123
|
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.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.352A>G (p.Asn118Asp)
|
rs200738857
|
0.00002
|
NM_000143.4(FH):c.358A>G (p.Ile120Val)
|
rs199641124
|
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.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.925C>T (p.Pro309Ser)
|
rs368849989
|
0.00002
|
NM_000143.4(FH):c.926C>T (p.Pro309Leu)
|
rs756528378
|
0.00002
|
NM_000143.4(FH):c.1003C>T (p.Leu335=)
|
rs1203364199
|
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.1092A>G (p.Gly364=)
|
rs1361977903
|
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.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.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.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.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.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.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.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.222A>T (p.Arg74Ser)
|
rs146739519
|
0.00001
|
NM_000143.4(FH):c.227C>T (p.Thr76Met)
|
rs778578307
|
0.00001
|
NM_000143.4(FH):c.26C>G (p.Ala9Gly)
|
rs766915154
|
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.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.354T>C (p.Asn118=)
|
rs1465574376
|
0.00001
|
NM_000143.4(FH):c.378+3A>C
|
rs774403932
|
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.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.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.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.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.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.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.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.914T>C (p.Phe305Ser)
|
rs1439046582
|
0.00001
|
NM_000143.4(FH):c.923C>G (p.Ala308Gly)
|
rs1057524385
|
0.00001
|
NM_000143.4(FH):c.959C>T (p.Ala320Val)
|
rs202147731
|
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
|
NM_000143.3(FH):c.556_557delAG
|
rs1131691235
|
|
NM_000143.4(FH):c.-1C>A
|
|
|
NM_000143.4(FH):c.-1C>G
|
|
|
NM_000143.4(FH):c.-1C>T
|
|
|
NM_000143.4(FH):c.-2C>A
|
|
|
NM_000143.4(FH):c.-3A>C
|
|
|
NM_000143.4(FH):c.-3A>T
|
|
|
NM_000143.4(FH):c.-5G>A
|
|
|
NM_000143.4(FH):c.-5del
|
|
|
NM_000143.4(FH):c.-6_-5delinsCA
|
|
|
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.1007T>G (p.Met336Arg)
|
rs863223972
|
|
NM_000143.4(FH):c.100C>T (p.Pro34Ser)
|
rs1191023697
|
|
NM_000143.4(FH):c.1012A>T (p.Ile338Leu)
|
|
|
NM_000143.4(FH):c.1013T>C (p.Ile338Thr)
|
rs201975537
|
|
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.1020T>C (p.Asn340=)
|
|
|
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.1029A>T (p.Arg343=)
|
|
|
NM_000143.4(FH):c.102C>A (p.Pro34=)
|
|
|
NM_000143.4(FH):c.1030T>C (p.Phe344Leu)
|
|
|
NM_000143.4(FH):c.1041del (p.Gly348fs)
|
rs1060499641
|
|
NM_000143.4(FH):c.1045C>G (p.Pro349Ala)
|
rs1254962869
|
|
NM_000143.4(FH):c.1046C>G (p.Pro349Arg)
|
rs1553341017
|
|
NM_000143.4(FH):c.1050G>C (p.Arg350=)
|
|
|
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.1056dup (p.Leu353fs)
|
rs863224016
|
|
NM_000143.4(FH):c.1058T>C (p.Leu353Pro)
|
|
|
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.1066T>C (p.Leu356=)
|
rs1157405003
|
|
NM_000143.4(FH):c.1068G>A (p.Leu356=)
|
|
|
NM_000143.4(FH):c.1068del (p.Ile357fs)
|
|
|
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.1074G>A (p.Leu358=)
|
|
|
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.1084G>C (p.Glu362Gln)
|
rs121913119
|
|
NM_000143.4(FH):c.1085A>G (p.Glu362Gly)
|
|
|
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.1095C>T (p.Ser365=)
|
|
|
NM_000143.4(FH):c.1097G>A (p.Ser366Asn)
|
rs863224004
|
|
NM_000143.4(FH):c.1105C>T (p.Pro369Ser)
|
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000143.4(FH):c.1108+2T>A
|
|
|
NM_000143.4(FH):c.1108G>C (p.Gly370Arg)
|
rs1659848371
|
|
NM_000143.4(FH):c.1109-4G>C
|
|
|
NM_000143.4(FH):c.110G>C (p.Trp37Ser)
|
rs1660318244
|
|
NM_000143.4(FH):c.1110C>T (p.Gly370=)
|
|
|
NM_000143.4(FH):c.1112A>G (p.Lys371Arg)
|
rs863224005
|
|
NM_000143.4(FH):c.1119C>T (p.Asn373=)
|
rs542014575
|
|
NM_000143.4(FH):c.111G>T (p.Trp37Cys)
|
rs1573889881
|
|
NM_000143.4(FH):c.1120C>A (p.Pro374Thr)
|
rs876660446
|
|
NM_000143.4(FH):c.1123A>C (p.Thr375Pro)
|
|
|
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)
|
rs398123160
|
|
NM_000143.4(FH):c.1129T>C (p.Cys377Arg)
|
rs398123161
|
|
NM_000143.4(FH):c.1136C>A (p.Ala379Glu)
|
rs2147914999
|
|
NM_000143.4(FH):c.1138dup (p.Met380fs)
|
rs781466938
|
|
NM_000143.4(FH):c.1144A>G (p.Met382Val)
|
rs886039365
|
|
NM_000143.4(FH):c.1149T>C (p.Val383=)
|
|
|
NM_000143.4(FH):c.1151C>T (p.Ala384Val)
|
rs904463039
|
|
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla)
|
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1157A>G (p.Gln386Arg)
|
rs750447792
|
|
NM_000143.4(FH):c.1161C>T (p.Val387=)
|
|
|
NM_000143.4(FH):c.1162A>G (p.Met388Val)
|
rs1573879331
|
|
NM_000143.4(FH):c.1163T>C (p.Met388Thr)
|
rs876660830
|
|
NM_000143.4(FH):c.1165G>A (p.Gly389Arg)
|
|
|
NM_000143.4(FH):c.1171C>T (p.His391Tyr)
|
|
|
NM_000143.4(FH):c.1179T>C (p.Ala393=)
|
|
|
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.1187_1188delinsCT (p.Val396Ala)
|
|
|
NM_000143.4(FH):c.1192G>A (p.Gly398Ser)
|
|
|
NM_000143.4(FH):c.1198A>G (p.Asn400Asp)
|
rs1131691247
|
|
NM_000143.4(FH):c.11C>A (p.Ala4Glu)
|
rs1252151546
|
|
NM_000143.4(FH):c.1200T>G (p.Asn400Lys)
|
rs1659805291
|
|
NM_000143.4(FH):c.1202G>A (p.Gly401Glu)
|
rs1573879289
|
|
NM_000143.4(FH):c.1203A>G (p.Gly401=)
|
|
|
NM_000143.4(FH):c.1205A>G (p.His402Arg)
|
rs886039366
|
|
NM_000143.4(FH):c.1209del (p.Phe403fs)
|
rs1060499644
|
|
NM_000143.4(FH):c.120C>T (p.Asn40=)
|
rs876658186
|
|
NM_000143.4(FH):c.1212G>A (p.Glu404=)
|
rs752558644
|
|
NM_000143.4(FH):c.1216A>G (p.Asn406Asp)
|
rs876659362
|
|
NM_000143.4(FH):c.1219G>A (p.Val407Ile)
|
|
|
NM_000143.4(FH):c.121G>A (p.Ala41Thr)
|
|
|
NM_000143.4(FH):c.1228C>T (p.Pro410Ser)
|
rs2147914837
|
|
NM_000143.4(FH):c.1230A>G (p.Pro410=)
|
|
|
NM_000143.4(FH):c.1236+1G>C
|
rs1131691249
|
|
NM_000143.4(FH):c.1236+2T>C
|
|
|
NM_000143.4(FH):c.1236+2T>G
|
|
|
NM_000143.4(FH):c.1237-14_1237-5del
|
rs759012809
|
|
NM_000143.4(FH):c.1237-1G>T
|
rs1573878149
|
|
NM_000143.4(FH):c.1237-2A>G
|
rs2147913407
|
|
NM_000143.4(FH):c.1237-3A>G
|
rs2147913409
|
|
NM_000143.4(FH):c.1237-50TC[18]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-5C>G
|
rs200926050
|
|
NM_000143.4(FH):c.1237-5C>T
|
rs200926050
|
|
NM_000143.4(FH):c.123G>A (p.Ala41=)
|
rs1660317620
|
|
NM_000143.4(FH):c.123G>T (p.Ala41=)
|
|
|
NM_000143.4(FH):c.1240A>T (p.Lys414Ter)
|
rs1573878145
|
|
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.1251A>C (p.Leu417Phe)
|
rs1573878136
|
|
NM_000143.4(FH):c.1252C>A (p.His418Asn)
|
|
|
NM_000143.4(FH):c.1252C>T (p.His418Tyr)
|
|
|
NM_000143.4(FH):c.1256C>T (p.Ser419Leu)
|
rs1131691244
|
|
NM_000143.4(FH):c.1262G>T (p.Arg421Met)
|
rs1659747962
|
|
NM_000143.4(FH):c.1267C>G (p.Leu423Val)
|
|
|
NM_000143.4(FH):c.1268T>G (p.Leu423Arg)
|
rs863224009
|
|
NM_000143.4(FH):c.1272G>A (p.Gly424=)
|
|
|
NM_000143.4(FH):c.1280C>T (p.Ser427Leu)
|
rs1573878095
|
|
NM_000143.4(FH):c.1283_1294del (p.Val428_Thr431del)
|
|
|
NM_000143.4(FH):c.1284T>C (p.Val428=)
|
|
|
NM_000143.4(FH):c.1287C>A (p.Ser429=)
|
|
|
NM_000143.4(FH):c.1287del (p.Phe430fs)
|
rs1659746788
|
|
NM_000143.4(FH):c.128G>C (p.Arg43Pro)
|
|
|
NM_000143.4(FH):c.1292C>T (p.Thr431Ile)
|
rs201005880
|
|
NM_000143.4(FH):c.1293del (p.Glu432fs)
|
rs398123163
|
|
NM_000143.4(FH):c.1297A>T (p.Asn433Tyr)
|
rs200121326
|
|
NM_000143.4(FH):c.1298dup (p.Asn433fs)
|
rs1573878071
|
|
NM_000143.4(FH):c.129_132+5delinsGAGC
|
|
|
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>C (p.Val436Leu)
|
|
|
NM_000143.4(FH):c.1306G>T (p.Val436Leu)
|
rs1324526971
|
|
NM_000143.4(FH):c.1307T>C (p.Val436Ala)
|
|
|
NM_000143.4(FH):c.1319C>G (p.Ala440Gly)
|
|
|
NM_000143.4(FH):c.132+4A>G
|
|
|
NM_000143.4(FH):c.132+5G>A
|
rs1060499627
|
|
NM_000143.4(FH):c.1323T>C (p.Asn441=)
|
|
|
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>T (p.Thr442=)
|
|
|
NM_000143.4(FH):c.1329A>G (p.Glu443=)
|
|
|
NM_000143.4(FH):c.132G>A (p.Met44Ile)
|
rs863223982
|
|
NM_000143.4(FH):c.1330A>C (p.Arg444=)
|
rs749266351
|
|
NM_000143.4(FH):c.1338C>G (p.Asn446Lys)
|
rs113572177
|
|
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.1345A>T (p.Met449Leu)
|
|
|
NM_000143.4(FH):c.1347del (p.Met449fs)
|
rs1060500903
|
|
NM_000143.4(FH):c.1349_1352dup (p.Glu451_Ser452insTer)
|
rs863223990
|
|
NM_000143.4(FH):c.134del (p.Ala45fs)
|
rs1131691237
|
|
NM_000143.4(FH):c.1354T>A (p.Ser452Thr)
|
rs201388169
|
|
NM_000143.4(FH):c.1357C>G (p.Leu453Val)
|
rs1218102979
|
|
NM_000143.4(FH):c.1360A>G (p.Met454Val)
|
|
|
NM_000143.4(FH):c.1366G>C (p.Val456Leu)
|
rs200244096
|
|
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)
|
rs863223992
|
|
NM_000143.4(FH):c.1371A>G (p.Thr457=)
|
|
|
NM_000143.4(FH):c.1379A>G (p.Asn460Ser)
|
rs767253363
|
|
NM_000143.4(FH):c.1380T>C (p.Asn460=)
|
|
|
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.1389A>G (p.Ile463Met)
|
rs876659472
|
|
NM_000143.4(FH):c.138C>T (p.Ser46=)
|
|
|
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.1390G>A (p.Gly464Arg)
|
rs1573877922
|
|
NM_000143.4(FH):c.1391-1G>T
|
|
|
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.1391-6C>G
|
|
|
NM_000143.4(FH):c.1391G>A (p.Gly464Glu)
|
rs1131691250
|
|
NM_000143.4(FH):c.1391G>T (p.Gly464Val)
|
rs1131691250
|
|
NM_000143.4(FH):c.1398C>T (p.Asp466=)
|
rs1558395525
|
|
NM_000143.4(FH):c.139C>T (p.Gln47Ter)
|
rs863223980
|
|
NM_000143.4(FH):c.13C>T (p.Leu5Phe)
|
rs1553342165
|
|
NM_000143.4(FH):c.1403C>T (p.Ala468Val)
|
|
|
NM_000143.4(FH):c.1404A>C (p.Ala468=)
|
|
|
NM_000143.4(FH):c.1411A>G (p.Ile471Val)
|
|
|
NM_000143.4(FH):c.1413dup (p.Ala472fs)
|
|
|
NM_000143.4(FH):c.1414G>A (p.Ala472Thr)
|
|
|
NM_000143.4(FH):c.1415C>T (p.Ala472Val)
|
rs765643179
|
|
NM_000143.4(FH):c.1419G>A (p.Lys473=)
|
|
|
NM_000143.4(FH):c.141A>G (p.Gln47=)
|
rs1573888563
|
|
NM_000143.4(FH):c.1420A>G (p.Thr474Ala)
|
|
|
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.1425A>G (p.Ala475=)
|
|
|
NM_000143.4(FH):c.1425A>T (p.Ala475=)
|
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1435G>A (p.Gly479Arg)
|
|
|
NM_000143.4(FH):c.1439C>G (p.Ser480Ter)
|
rs1131691245
|
|
NM_000143.4(FH):c.143A>G (p.Asn48Ser)
|
|
|
NM_000143.4(FH):c.1440A>T (p.Ser480=)
|
|
|
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.1450G>A (p.Glu484Lys)
|
|
|
NM_000143.4(FH):c.1455T>C (p.Thr485=)
|
rs2147911274
|
|
NM_000143.4(FH):c.1458T>C (p.Ala486=)
|
|
|
NM_000143.4(FH):c.1459A>G (p.Ile487Val)
|
rs1391195810
|
|
NM_000143.4(FH):c.1459A>T (p.Ile487Phe)
|
|
|
NM_000143.4(FH):c.1467T>G (p.Leu489=)
|
|
|
NM_000143.4(FH):c.1469del (p.Gly490fs)
|
rs1060499645
|
|
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.1480G>A (p.Ala494Thr)
|
|
|
NM_000143.4(FH):c.1480G>C (p.Ala494Pro)
|
rs1553340508
|
|
NM_000143.4(FH):c.1481C>T (p.Ala494Val)
|
rs752369363
|
|
NM_000143.4(FH):c.1482A>C (p.Ala494=)
|
|
|
NM_000143.4(FH):c.1482del (p.Glu495fs)
|
|
|
NM_000143.4(FH):c.1489T>C (p.Phe497Leu)
|
rs2147911216
|
|
NM_000143.4(FH):c.1495G>A (p.Glu499Lys)
|
rs750838853
|
|
NM_000143.4(FH):c.1498T>C (p.Trp500Arg)
|
|
|
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.1500G>C (p.Trp500Cys)
|
|
|
NM_000143.4(FH):c.1506A>G (p.Lys502=)
|
rs1573876491
|
|
NM_000143.4(FH):c.1506dup (p.Pro503fs)
|
rs886041202
|
|
NM_000143.4(FH):c.1508C>G (p.Pro503Arg)
|
rs1659661748
|
|
NM_000143.4(FH):c.150C>T (p.Phe50=)
|
rs2147925282
|
|
NM_000143.4(FH):c.1519_1521del (p.Leu507del)
|
|
|
NM_000143.4(FH):c.151C>A (p.Arg51=)
|
rs778678782
|
|
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>A (p.Gly508Ser)
|
|
|
NM_000143.4(FH):c.1523G>A (p.Gly508Asp)
|
|
|
NM_000143.4(FH):c.1526C>T (p.Pro509Leu)
|
rs1553340499
|
|
NM_000143.4(FH):c.152G>A (p.Arg51Gln)
|
rs976734433
|
|
NM_000143.4(FH):c.153G>C (p.Arg51=)
|
|
|
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.163_165del (p.Asp55del)
|
|
|
NM_000143.4(FH):c.166A>G (p.Thr56Ala)
|
rs1232573732
|
|
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>G (p.Arg6Gly)
|
|
|
NM_000143.4(FH):c.16C>T (p.Arg6Trp)
|
rs1660324018
|
|
NM_000143.4(FH):c.172G>A (p.Gly58Ser)
|
rs11545659
|
|
NM_000143.4(FH):c.173G>A (p.Gly58Asp)
|
|
|
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>C (p.Glu59Asp)
|
|
|
NM_000143.4(FH):c.183G>A (p.Lys61=)
|
rs766840026
|
|
NM_000143.4(FH):c.186G>A (p.Val62=)
|
|
|
NM_000143.4(FH):c.188C>T (p.Pro63Leu)
|
|
|
NM_000143.4(FH):c.189A>G (p.Pro63=)
|
|
|
NM_000143.4(FH):c.18G>A (p.Arg6=)
|
|
|
NM_000143.4(FH):c.194A>T (p.Asp65Val)
|
rs145116688
|
|
NM_000143.4(FH):c.199T>G (p.Tyr67Asp)
|
rs1660243497
|
|
NM_000143.4(FH):c.199TAT[1] (p.Tyr68del)
|
rs1573888450
|
|
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.200A>G (p.Tyr67Cys)
|
|
|
NM_000143.4(FH):c.201T>A (p.Tyr67Ter)
|
rs1558402241
|
|
NM_000143.4(FH):c.201T>G (p.Tyr67Ter)
|
rs1558402241
|
|
NM_000143.4(FH):c.202T>C (p.Tyr68His)
|
rs1189016440
|
|
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.204T>G (p.Tyr68Ter)
|
|
|
NM_000143.4(FH):c.205G>A (p.Gly69Ser)
|
|
|
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.211C>T (p.Gln71Ter)
|
|
|
NM_000143.4(FH):c.214A>C (p.Thr72Pro)
|
rs886039362
|
|
NM_000143.4(FH):c.216C>T (p.Thr72=)
|
rs1341995835
|
|
NM_000143.4(FH):c.217G>C (p.Val73Leu)
|
|
|
NM_000143.4(FH):c.21C>G (p.Leu7=)
|
rs1263147931
|
|
NM_000143.4(FH):c.220A>T (p.Arg74Ter)
|
|
|
NM_000143.4(FH):c.225T>C (p.Ser75=)
|
|
|
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.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.23T>G (p.Leu8Arg)
|
|
|
NM_000143.4(FH):c.240G>A (p.Lys80=)
|
rs1573888362
|
|
NM_000143.4(FH):c.243del (p.Ile81fs)
|
rs1573888356
|
|
NM_000143.4(FH):c.24C>T (p.Leu8=)
|
|
|
NM_000143.4(FH):c.254C>G (p.Thr85Arg)
|
rs1324632356
|
|
NM_000143.4(FH):c.260G>T (p.Arg87Leu)
|
rs200007371
|
|
NM_000143.4(FH):c.265C>T (p.Pro89Ser)
|
|
|
NM_000143.4(FH):c.267+1G>A
|
rs878853691
|
|
NM_000143.4(FH):c.267+1G>C
|
rs878853691
|
|
NM_000143.4(FH):c.267A>C (p.Pro89=)
|
rs1060500897
|
|
NM_000143.4(FH):c.268-2A>G
|
rs1064793741
|
|
NM_000143.4(FH):c.268A>G (p.Thr90Ala)
|
|
|
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup)
|
rs1395036789
|
|
NM_000143.4(FH):c.270C>A (p.Thr90=)
|
|
|
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.273dup (p.Val92fs)
|
|
|
NM_000143.4(FH):c.275TTA[1] (p.Ile93del)
|
rs1573886490
|
|
NM_000143.4(FH):c.276T>C (p.Val92=)
|
|
|
NM_000143.4(FH):c.284C>A (p.Ala95Asp)
|
|
|
NM_000143.4(FH):c.285T>C (p.Ala95=)
|
rs973577283
|
|
NM_000143.4(FH):c.288T>C (p.Phe96=)
|
rs747348623
|
|
NM_000143.4(FH):c.295_301del (p.Leu99fs)
|
rs863224017
|
|
NM_000143.4(FH):c.299A>G (p.Lys100Arg)
|
|
|
NM_000143.4(FH):c.29G>T (p.Arg10Leu)
|
|
|
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.301_319del (p.Arg101fs)
|
rs1558401094
|
|
NM_000143.4(FH):c.302G>C (p.Arg101Pro)
|
rs75086406
|
|
NM_000143.4(FH):c.307G>T (p.Ala103Ser)
|
|
|
NM_000143.4(FH):c.308C>T (p.Ala103Val)
|
rs1256116208
|
|
NM_000143.4(FH):c.30C>G (p.Arg10=)
|
|
|
NM_000143.4(FH):c.30C>T (p.Arg10=)
|
|
|
NM_000143.4(FH):c.310G>A (p.Ala104Thr)
|
rs1303488878
|
|
NM_000143.4(FH):c.312T>G (p.Ala104=)
|
|
|
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer)
|
rs876658569
|
|
NM_000143.4(FH):c.318A>G (p.Val106=)
|
rs2147923011
|
|
NM_000143.4(FH):c.320A>C (p.Asn107Thr)
|
rs121913121
|
|
NM_000143.4(FH):c.326A>T (p.Asp109Val)
|
rs1573886432
|
|
NM_000143.4(FH):c.336T>C (p.Leu112=)
|
|
|
NM_000143.4(FH):c.337G>T (p.Asp113Tyr)
|
|
|
NM_000143.4(FH):c.339T>A (p.Asp113Glu)
|
rs1029743950
|
|
NM_000143.4(FH):c.33G>T (p.Ser11=)
|
rs200542051
|
|
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>G (p.Arg12Gly)
|
rs199912971
|
|
NM_000143.4(FH):c.353del (p.Asn118fs)
|
rs1558401064
|
|
NM_000143.4(FH):c.354T>G (p.Asn118Lys)
|
rs1465574376
|
|
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.357A>T (p.Ala119=)
|
|
|
NM_000143.4(FH):c.359T>C (p.Ile120Thr)
|
|
|
NM_000143.4(FH):c.366G>A (p.Lys122=)
|
rs1573886379
|
|
NM_000143.4(FH):c.367G>A (p.Ala123Thr)
|
|
|
NM_000143.4(FH):c.378+1G>A
|
rs1660143675
|
|
NM_000143.4(FH):c.378+2T>C
|
rs1131691241
|
|
NM_000143.4(FH):c.378G>C (p.Glu126Asp)
|
rs1573886367
|
|
NM_000143.4(FH):c.379-1G>A
|
rs1553341623
|
|
NM_000143.4(FH):c.379-1G>C
|
rs1553341623
|
|
NM_000143.4(FH):c.379-2A>G
|
rs1131691240
|
|
NM_000143.4(FH):c.379-4G>A
|
rs1660104141
|
|
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.382G>A (p.Ala128Thr)
|
rs1553341620
|
|
NM_000143.4(FH):c.382dup (p.Ala128fs)
|
|
|
NM_000143.4(FH):c.384T>C (p.Ala128=)
|
|
|
NM_000143.4(FH):c.385G>T (p.Glu129Ter)
|
|
|
NM_000143.4(FH):c.38C>T (p.Pro13Leu)
|
rs1190505598
|
|
NM_000143.4(FH):c.393A>G (p.Lys131=)
|
|
|
NM_000143.4(FH):c.393A>T (p.Lys131Asn)
|
rs2147922022
|
|
NM_000143.4(FH):c.39C>A (p.Pro13=)
|
rs1060504077
|
|
NM_000143.4(FH):c.402T>G (p.Asp134Glu)
|
|
|
NM_000143.4(FH):c.404A>G (p.His135Arg)
|
rs786202833
|
|
NM_000143.4(FH):c.409C>G (p.Pro137Ala)
|
|
|
NM_000143.4(FH):c.40dup (p.Leu14fs)
|
rs1060500900
|
|
NM_000143.4(FH):c.410C>G (p.Pro137Arg)
|
rs1660101853
|
|
NM_000143.4(FH):c.415G>T (p.Val139Leu)
|
|
|
NM_000143.4(FH):c.416T>G (p.Val139Gly)
|
rs1573885528
|
|
NM_000143.4(FH):c.418G>A (p.Val140Ile)
|
|
|
NM_000143.4(FH):c.418G>C (p.Val140Leu)
|
rs746195750
|
|
NM_000143.4(FH):c.423del (p.Trp141fs)
|
|
|
NM_000143.4(FH):c.425A>G (p.Gln142Arg)
|
rs1573885503
|
|
NM_000143.4(FH):c.429T>C (p.Thr143=)
|
|
|
NM_000143.4(FH):c.42C>G (p.Leu14=)
|
|
|
NM_000143.4(FH):c.42C>T (p.Leu14=)
|
rs1660322230
|
|
NM_000143.4(FH):c.431G>C (p.Gly144Ala)
|
|
|
NM_000143.4(FH):c.431G>T (p.Gly144Val)
|
rs1057521425
|
|
NM_000143.4(FH):c.434C>G (p.Ser145Ter)
|
rs1573885482
|
|
NM_000143.4(FH):c.435A>T (p.Ser145=)
|
|
|
NM_000143.4(FH):c.437G>A (p.Gly146Glu)
|
rs11545654
|
|
NM_000143.4(FH):c.439A>G (p.Thr147Ala)
|
rs863223983
|
|
NM_000143.4(FH):c.43G>C (p.Val15Leu)
|
|
|
NM_000143.4(FH):c.450T>A (p.Asn150Lys)
|
rs1131691242
|
|
NM_000143.4(FH):c.450T>C (p.Asn150=)
|
|
|
NM_000143.4(FH):c.452T>A (p.Met151Lys)
|
rs1660099266
|
|
NM_000143.4(FH):c.452T>C (p.Met151Thr)
|
rs1660099266
|
|
NM_000143.4(FH):c.458T>C (p.Val153Ala)
|
|
|
NM_000143.4(FH):c.45G>C (p.Val15=)
|
|
|
NM_000143.4(FH):c.462T>C (p.Asn154=)
|
rs2147921891
|
|
NM_000143.4(FH):c.470T>G (p.Ile157Ser)
|
rs2147921876
|
|
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.47G>C (p.Arg16Pro)
|
rs762310232
|
|
NM_000143.4(FH):c.481G>A (p.Ala161Thr)
|
rs1573885421
|
|
NM_000143.4(FH):c.482C>A (p.Ala161Glu)
|
|
|
NM_000143.4(FH):c.482C>T (p.Ala161Val)
|
rs1307815197
|
|
NM_000143.4(FH):c.485T>C (p.Ile162Thr)
|
|
|
NM_000143.4(FH):c.486T>C (p.Ile162=)
|
rs1573885412
|
|
NM_000143.4(FH):c.486T>G (p.Ile162Met)
|
|
|
NM_000143.4(FH):c.493T>C (p.Leu165=)
|
|
|
NM_000143.4(FH):c.496G>A (p.Gly166Arg)
|
rs1660097824
|
|
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.504A>G (p.Glu168=)
|
|
|
NM_000143.4(FH):c.504del (p.Glu168fs)
|
rs776190273
|
|
NM_000143.4(FH):c.507T>G (p.Leu169=)
|
|
|
NM_000143.4(FH):c.508G>T (p.Gly170Cys)
|
rs1573885366
|
|
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.513C>T (p.Ser171=)
|
|
|
NM_000143.4(FH):c.520C>A (p.Pro174Thr)
|
rs1553341598
|
|
NM_000143.4(FH):c.524T>G (p.Val175Gly)
|
|
|
NM_000143.4(FH):c.525G>A (p.Val175=)
|
rs1553341592
|
|
NM_000143.4(FH):c.52C>G (p.Pro18Ala)
|
rs1660321288
|
|
NM_000143.4(FH):c.531C>G (p.Pro177=)
|
rs202056137
|
|
NM_000143.4(FH):c.535G>A (p.Asp179Asn)
|
rs1553341588
|
|
NM_000143.4(FH):c.536A>G (p.Asp179Gly)
|
rs2147921775
|
|
NM_000143.4(FH):c.539A>G (p.His180Arg)
|
rs863224015
|
|
NM_000143.4(FH):c.546T>C (p.Asn182=)
|
|
|
NM_000143.4(FH):c.547A>G (p.Lys183Glu)
|
rs2147921763
|
|
NM_000143.4(FH):c.551del (p.Ser184fs)
|
|
|
NM_000143.4(FH):c.554A>G (p.Gln185Arg)
|
rs779707997
|
|
NM_000143.4(FH):c.555+1_555+9del
|
|
|
NM_000143.4(FH):c.555+3C>T
|
|
|
NM_000143.4(FH):c.555+4A>C
|
|
|
NM_000143.4(FH):c.555+4A>G
|
rs776240700
|
|
NM_000143.4(FH):c.555+5G>A
|
|
|
NM_000143.4(FH):c.556-11A>G
|
|
|
NM_000143.4(FH):c.556-2A>T
|
rs750273092
|
|
NM_000143.4(FH):c.556-3C>T
|
|
|
NM_000143.4(FH):c.556A>T (p.Ser186Cys)
|
rs1131691233
|
|
NM_000143.4(FH):c.557G>A (p.Ser186Asn)
|
rs587782618
|
|
NM_000143.4(FH):c.558C>T (p.Ser186=)
|
rs2147919721
|
|
NM_000143.4(FH):c.560C>T (p.Ser187Leu)
|
rs398123166
|
|
NM_000143.4(FH):c.562A>G (p.Asn188Asp)
|
|
|
NM_000143.4(FH):c.563del (p.Asn188fs)
|
rs1131691248
|
|
NM_000143.4(FH):c.566A>T (p.Asp189Val)
|
rs1064793125
|
|
NM_000143.4(FH):c.566dup (p.Asp189fs)
|
|
|
NM_000143.4(FH):c.568_569del (p.Thr190fs)
|
rs1553341367
|
|
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.576C>T (p.Pro192=)
|
|
|
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del)
|
rs1060499635
|
|
NM_000143.4(FH):c.57C>T (p.Ala19=)
|
rs1469317078
|
|
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.587A>G (p.His196Arg)
|
rs763601207
|
|
NM_000143.4(FH):c.58G>C (p.Ala20Pro)
|
|
|
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.596C>A (p.Ala199Asp)
|
|
|
NM_000143.4(FH):c.597T>C (p.Ala199=)
|
|
|
NM_000143.4(FH):c.598G>A (p.Ala200Thr)
|
|
|
NM_000143.4(FH):c.59C>T (p.Ala20Val)
|
rs1573889953
|
|
NM_000143.4(FH):c.600A>C (p.Ala200=)
|
rs1490011492
|
|
NM_000143.4(FH):c.602T>C (p.Ile201Thr)
|
rs1476664795
|
|
NM_000143.4(FH):c.603A>C (p.Ile201=)
|
|
|
NM_000143.4(FH):c.604G>A (p.Glu202Lys)
|
|
|
NM_000143.4(FH):c.610C>A (p.His204Asn)
|
rs863223996
|
|
NM_000143.4(FH):c.612T>G (p.His204Gln)
|
rs1424868653
|
|
NM_000143.4(FH):c.619C>T (p.Leu207=)
|
rs1659995971
|
|
NM_000143.4(FH):c.621G>A (p.Leu207=)
|
rs1210947784
|
|
NM_000143.4(FH):c.624del (p.Leu208fs)
|
rs2147919608
|
|
NM_000143.4(FH):c.627A>G (p.Pro209=)
|
|
|
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>T (p.Gln212Ter)
|
rs1553341353
|
|
NM_000143.4(FH):c.644A>G (p.His215Arg)
|
|
|
NM_000143.4(FH):c.644A>T (p.His215Leu)
|
rs770141324
|
|
NM_000143.4(FH):c.646G>T (p.Asp216Tyr)
|
|
|
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.653T>G (p.Leu218Arg)
|
rs1553341345
|
|
NM_000143.4(FH):c.654T>C (p.Leu218=)
|
|
|
NM_000143.4(FH):c.654T>G (p.Leu218=)
|
|
|
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.663dup (p.Ser222fs)
|
rs1573883195
|
|
NM_000143.4(FH):c.667A>G (p.Lys223Glu)
|
|
|
NM_000143.4(FH):c.668A>C (p.Lys223Thr)
|
rs1064795294
|
|
NM_000143.4(FH):c.669A>G (p.Lys223=)
|
rs1573883183
|
|
NM_000143.4(FH):c.671A>T (p.Glu224Val)
|
|
|
NM_000143.4(FH):c.674T>C (p.Phe225Ser)
|
rs149651434
|
|
NM_000143.4(FH):c.675T>C (p.Phe225=)
|
|
|
NM_000143.4(FH):c.677C>A (p.Ala226Glu)
|
rs778786425
|
|
NM_000143.4(FH):c.678A>C (p.Ala226=)
|
|
|
NM_000143.4(FH):c.678A>G (p.Ala226=)
|
rs757078832
|
|
NM_000143.4(FH):c.679C>G (p.Gln227Glu)
|
|
|
NM_000143.4(FH):c.67G>A (p.Ala23Thr)
|
rs1573889943
|
|
NM_000143.4(FH):c.680A>G (p.Gln227Arg)
|
|
|
NM_000143.4(FH):c.681G>T (p.Gln227His)
|
|
|
NM_000143.4(FH):c.683T>C (p.Ile228Thr)
|
rs753773918
|
|
NM_000143.4(FH):c.683TCA[1] (p.Ile229del)
|
|
|
NM_000143.4(FH):c.687C>G (p.Ile229Met)
|
rs755587163
|
|
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.691A>C (p.Ile231Leu)
|
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>T (p.Arg233Leu)
|
rs121913123
|
|
NM_000143.4(FH):c.6C>G (p.Tyr2Ter)
|
rs199971078
|
|
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.707C>T (p.Thr236Ile)
|
rs773382103
|
|
NM_000143.4(FH):c.708T>C (p.Thr236=)
|
|
|
NM_000143.4(FH):c.710A>G (p.Gln237Arg)
|
|
|
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>T (p.Val240Phe)
|
|
|
NM_000143.4(FH):c.71C>T (p.Ser24Leu)
|
|
|
NM_000143.4(FH):c.722C>T (p.Pro241Leu)
|
rs1553341319
|
|
NM_000143.4(FH):c.722_738+3del
|
rs1064792900
|
|
NM_000143.4(FH):c.729T>C (p.Thr243=)
|
rs1573883071
|
|
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.733G>A (p.Gly245Arg)
|
rs1287444534
|
|
NM_000143.4(FH):c.734G>A (p.Gly245Glu)
|
|
|
NM_000143.4(FH):c.735G>C (p.Gly245=)
|
rs1448288377
|
|
NM_000143.4(FH):c.738+1G>A
|
rs1659988368
|
|
NM_000143.4(FH):c.738+2T>C
|
rs1060500901
|
|
NM_000143.4(FH):c.738+4T>G
|
rs1203519378
|
|
NM_000143.4(FH):c.738G>A (p.Gln246=)
|
|
|
NM_000143.4(FH):c.738G>C (p.Gln246His)
|
rs2147919372
|
|
NM_000143.4(FH):c.739-17TTTTC[2]
|
rs745617145
|
|
NM_000143.4(FH):c.739G>T (p.Glu247Ter)
|
rs1131691243
|
|
NM_000143.4(FH):c.740A>G (p.Glu247Gly)
|
|
|
NM_000143.4(FH):c.749G>A (p.Gly250Asp)
|
|
|
NM_000143.4(FH):c.749G>T (p.Gly250Val)
|
rs951611697
|
|
NM_000143.4(FH):c.74C>A (p.Ala25Asp)
|
|
|
NM_000143.4(FH):c.750T>C (p.Gly250=)
|
|
|
NM_000143.4(FH):c.757C>T (p.Gln253Ter)
|
rs1131691239
|
|
NM_000143.4(FH):c.75T>G (p.Ala25=)
|
|
|
NM_000143.4(FH):c.763_767del (p.Val255fs)
|
|
|
NM_000143.4(FH):c.764T>G (p.Val255Gly)
|
|
|
NM_000143.4(FH):c.767A>C (p.Lys256Thr)
|
rs978988174
|
|
NM_000143.4(FH):c.770A>G (p.Tyr257Cys)
|
|
|
NM_000143.4(FH):c.773C>T (p.Ala258Val)
|
rs1553341166
|
|
NM_000143.4(FH):c.774A>G (p.Ala258=)
|
rs2147917743
|
|
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup)
|
rs863223984
|
|
NM_000143.4(FH):c.777G>A (p.Met259Ile)
|
rs1044975651
|
|
NM_000143.4(FH):c.780A>C (p.Thr260=)
|
|
|
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.782_784del (p.Arg261del)
|
|
|
NM_000143.4(FH):c.783A>G (p.Arg261=)
|
rs1573881721
|
|
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.796A>T (p.Met266Leu)
|
|
|
NM_000143.4(FH):c.7C>T (p.Arg3Ter)
|
rs202166344
|
|
NM_000143.4(FH):c.805del (p.Ile269fs)
|
rs1131691234
|
|
NM_000143.4(FH):c.812A>G (p.Glu271Gly)
|
|
|
NM_000143.4(FH):c.814C>A (p.Leu272Ile)
|
rs779019570
|
|
NM_000143.4(FH):c.816C>G (p.Leu272=)
|
|
|
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del)
|
rs863223985
|
|
NM_000143.4(FH):c.818C>T (p.Ala273Val)
|
rs1573881663
|
|
NM_000143.4(FH):c.81C>G (p.Gly27=)
|
|
|
NM_000143.4(FH):c.820G>T (p.Ala274Ser)
|
|
|
NM_000143.4(FH):c.823G>C (p.Gly275Arg)
|
rs1060499639
|
|
NM_000143.4(FH):c.824_827dup (p.Thr277fs)
|
rs1659922131
|
|
NM_000143.4(FH):c.825A>T (p.Gly275=)
|
|
|
NM_000143.4(FH):c.827G>A (p.Gly276Asp)
|
rs2147917609
|
|
NM_000143.4(FH):c.827G>T (p.Gly276Val)
|
|
|
NM_000143.4(FH):c.82T>C (p.Leu28=)
|
|
|
NM_000143.4(FH):c.831T>C (p.Thr277=)
|
rs113349873
|
|
NM_000143.4(FH):c.834T>C (p.Ala278=)
|
|
|
NM_000143.4(FH):c.835G>A (p.Val279Ile)
|
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
|
|
NM_000143.4(FH):c.842C>G (p.Thr281Arg)
|
|
|
NM_000143.4(FH):c.842C>T (p.Thr281Ile)
|
rs1573881633
|
|
NM_000143.4(FH):c.846T>A (p.Gly282=)
|
|
|
NM_000143.4(FH):c.846T>C (p.Gly282=)
|
rs1474982294
|
|
NM_000143.4(FH):c.852T>C (p.Asn284=)
|
rs759596203
|
|
NM_000143.4(FH):c.857G>A (p.Arg286Lys)
|
|
|
NM_000143.4(FH):c.861T>C (p.Ile287=)
|
|
|
NM_000143.4(FH):c.866T>C (p.Phe289Ser)
|
|
|
NM_000143.4(FH):c.86G>T (p.Gly29Val)
|
|
|
NM_000143.4(FH):c.871G>A (p.Glu291Lys)
|
|
|
NM_000143.4(FH):c.872A>C (p.Glu291Ala)
|
|
|
NM_000143.4(FH):c.874A>C (p.Lys292Gln)
|
rs771087739
|
|
NM_000143.4(FH):c.874A>G (p.Lys292Glu)
|
|
|
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.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000143.4(FH):c.892G>T (p.Ala298Ser)
|
|
|
NM_000143.4(FH):c.893C>G (p.Ala298Gly)
|
rs1573881563
|
|
NM_000143.4(FH):c.897A>G (p.Ala299=)
|
rs1553341151
|
|
NM_000143.4(FH):c.898C>G (p.Leu300Val)
|
|
|
NM_000143.4(FH):c.89G>A (p.Gly30Asp)
|
|
|
NM_000143.4(FH):c.8G>C (p.Arg3Pro)
|
rs1573890051
|
|
NM_000143.4(FH):c.902C>G (p.Thr301Arg)
|
|
|
NM_000143.4(FH):c.904+1G>A
|
rs1553341148
|
|
NM_000143.4(FH):c.904+2dup
|
rs1573881536
|
|
NM_000143.4(FH):c.904+4A>C
|
rs1573881535
|
|
NM_000143.4(FH):c.904G>A (p.Gly302Ser)
|
rs200412958
|
|
NM_000143.4(FH):c.904G>C (p.Gly302Arg)
|
|
|
NM_000143.4(FH):c.905-1G>A
|
rs797044973
|
|
NM_000143.4(FH):c.905-1G>C
|
rs797044973
|
|
NM_000143.4(FH):c.905-3T>C
|
rs1573880626
|
|
NM_000143.4(FH):c.905-5T>G
|
rs886046318
|
|
NM_000143.4(FH):c.906C>A (p.Gly302=)
|
|
|
NM_000143.4(FH):c.906C>T (p.Gly302=)
|
rs1573880617
|
|
NM_000143.4(FH):c.907T>A (p.Leu303Met)
|
|
|
NM_000143.4(FH):c.907_910del (p.Pro304fs)
|
|
|
NM_000143.4(FH):c.909G>A (p.Leu303=)
|
|
|
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.91G>A (p.Ala31Thr)
|
|
|
NM_000143.4(FH):c.921T>C (p.Thr307=)
|
|
|
NM_000143.4(FH):c.921T>G (p.Thr307=)
|
|
|
NM_000143.4(FH):c.924T>G (p.Ala308=)
|
rs2147916343
|
|
NM_000143.4(FH):c.92C>T (p.Ala31Val)
|
rs876659347
|
|
NM_000143.4(FH):c.930T>C (p.Asn310=)
|
|
|
NM_000143.4(FH):c.934T>C (p.Phe312Leu)
|
rs863224000
|
|
NM_000143.4(FH):c.935T>C (p.Phe312Ser)
|
rs1553341046
|
|
NM_000143.4(FH):c.936T>C (p.Phe312=)
|
|
|
NM_000143.4(FH):c.937G>T (p.Glu313Ter)
|
rs863224001
|
|
NM_000143.4(FH):c.942T>C (p.Ala314=)
|
|
|
NM_000143.4(FH):c.943C>G (p.Leu315Val)
|
rs1573880536
|
|
NM_000143.4(FH):c.947C>A (p.Ala316Asp)
|
rs863224002
|
|
NM_000143.4(FH):c.94G>A (p.Ala32Thr)
|
rs1371664717
|
|
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>G (p.His318Arg)
|
|
|
NM_000143.4(FH):c.955G>T (p.Asp319Tyr)
|
|
|
NM_000143.4(FH):c.956A>T (p.Asp319Val)
|
|
|
NM_000143.4(FH):c.958G>A (p.Ala320Thr)
|
|
|
NM_000143.4(FH):c.958G>T (p.Ala320Ser)
|
rs766441385
|
|
NM_000143.4(FH):c.965T>A (p.Val322Asp)
|
|
|
NM_000143.4(FH):c.965T>G (p.Val322Gly)
|
rs863224003
|
|
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.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.984G>A (p.Met328Ile)
|
|
|
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.990T>G (p.Thr330=)
|
rs1659853439
|
|
NM_000143.4(FH):c.991A>G (p.Thr331Ala)
|
rs1459131048
|
|
NM_000143.4(FH):c.996C>G (p.Ala332=)
|
|
|
NM_000143.4(FH):c.996C>T (p.Ala332=)
|
|
|
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.9A>G (p.Arg3=)
|
|
|