NM_000143.4(FH):c.1237-13C>T
|
rs752468689
|
0.07865
|
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.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.905-39A>G
|
rs200809528
|
0.00139
|
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.556-28T>C
|
rs199773673
|
0.00099
|
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_000143.3(FH):c.*266A>G
|
rs113667027
|
0.00037
|
NM_000143.4(FH):c.306G>A (p.Ala102=)
|
rs142283468
|
0.00032
|
NM_000143.4(FH):c.1391-40C>G
|
rs200343739
|
0.00025
|
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.379-49G>A
|
rs201168370
|
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.*102T>C
|
rs200093224
|
0.00009
|
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.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.-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.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.738+14A>G
|
rs765629644
|
0.00003
|
NM_000143.4(FH):c.1138A>G (p.Met380Val)
|
rs587778362
|
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.358A>G (p.Ile120Val)
|
rs199641124
|
0.00002
|
NM_000143.4(FH):c.555+11G>A
|
rs768253079
|
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.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.*36A>G
|
rs778697601
|
0.00001
|
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.1041T>C (p.Ser347=)
|
rs748482867
|
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.1108+7A>G
|
rs765397179
|
0.00001
|
NM_000143.4(FH):c.1109-7C>T
|
rs1060504079
|
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.1227G>A (p.Lys409=)
|
rs774493741
|
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.1293A>G (p.Thr431=)
|
rs772800627
|
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.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.1401G>A (p.Lys467=)
|
rs1464951563
|
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.1461C>T (p.Ile487=)
|
rs377091029
|
0.00001
|
NM_000143.4(FH):c.1470C>T (p.Gly490=)
|
rs137969374
|
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.1503A>G (p.Val501=)
|
rs1553340502
|
0.00001
|
NM_000143.4(FH):c.153G>A (p.Arg51=)
|
rs757002779
|
0.00001
|
NM_000143.4(FH):c.178C>T (p.Leu60=)
|
rs201146499
|
0.00001
|
NM_000143.4(FH):c.193G>A (p.Asp65Asn)
|
rs769956664
|
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.237T>C (p.Phe79=)
|
rs1443879574
|
0.00001
|
NM_000143.4(FH):c.267+8G>A
|
rs750447887
|
0.00001
|
NM_000143.4(FH):c.26C>G (p.Ala9Gly)
|
rs766915154
|
0.00001
|
NM_000143.4(FH):c.330T>C (p.Tyr110=)
|
rs753962693
|
0.00001
|
NM_000143.4(FH):c.354T>C (p.Asn118=)
|
rs1465574376
|
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.379-10T>G
|
rs201020261
|
0.00001
|
NM_000143.4(FH):c.39C>T (p.Pro13=)
|
rs1060504077
|
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.42C>A (p.Leu14=)
|
rs1660322230
|
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.48G>T (p.Arg16=)
|
rs1468361143
|
0.00001
|
NM_000143.4(FH):c.49G>C (p.Ala17Pro)
|
rs755886213
|
0.00001
|
NM_000143.4(FH):c.534C>T (p.Asn178=)
|
rs375878939
|
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.5A>G (p.Tyr2Cys)
|
rs1553342167
|
0.00001
|
NM_000143.4(FH):c.615A>G (p.Glu205=)
|
rs1474356587
|
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.684C>T (p.Ile228=)
|
rs1384151924
|
0.00001
|
NM_000143.4(FH):c.720T>C (p.Val240=)
|
rs1228594697
|
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.792T>C (p.Ala264=)
|
rs368234566
|
0.00001
|
NM_000143.4(FH):c.816C>T (p.Leu272=)
|
rs775368701
|
0.00001
|
NM_000143.4(FH):c.81C>T (p.Gly27=)
|
rs1206696042
|
0.00001
|
NM_000143.4(FH):c.853A>G (p.Thr285Ala)
|
rs200791185
|
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.90C>A (p.Gly30=)
|
rs1262096783
|
0.00001
|
NM_000143.4(FH):c.90C>T (p.Gly30=)
|
rs1262096783
|
0.00001
|
NM_000143.4(FH):c.96C>A (p.Ala32=)
|
rs750087000
|
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_000143.4(FH):c.*14A>G
|
|
|
NM_000143.4(FH):c.*2T>C
|
|
|
NM_000143.4(FH):c.-17C>T
|
rs202081538
|
|
NM_000143.4(FH):c.-31C>T
|
|
|
NM_000143.4(FH):c.1002T>C (p.Ser334=)
|
rs2147916185
|
|
NM_000143.4(FH):c.1013T>C (p.Ile338Thr)
|
rs201975537
|
|
NM_000143.4(FH):c.1020T>C (p.Asn340=)
|
|
|
NM_000143.4(FH):c.1023T>C (p.Asp341=)
|
rs863223973
|
|
NM_000143.4(FH):c.1029A>T (p.Arg343=)
|
|
|
NM_000143.4(FH):c.102C>A (p.Pro34=)
|
|
|
NM_000143.4(FH):c.1050G>C (p.Arg350=)
|
|
|
NM_000143.4(FH):c.105G>C (p.Ser35=)
|
rs181655698
|
|
NM_000143.4(FH):c.105G>T (p.Ser35=)
|
|
|
NM_000143.4(FH):c.1066T>C (p.Leu356=)
|
rs1157405003
|
|
NM_000143.4(FH):c.1068G>A (p.Leu356=)
|
|
|
NM_000143.4(FH):c.1071C>A (p.Ile357=)
|
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.1086A>G (p.Glu362=)
|
rs1553341008
|
|
NM_000143.4(FH):c.1095C>T (p.Ser365=)
|
|
|
NM_000143.4(FH):c.1098T>C (p.Ser366=)
|
rs2147916028
|
|
NM_000143.4(FH):c.10G>A (p.Ala4Thr)
|
rs1573890047
|
|
NM_000143.4(FH):c.1108+10T>A
|
rs201513242
|
|
NM_000143.4(FH):c.1108+10T>C
|
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+8C>A
|
|
|
NM_000143.4(FH):c.1108+9A>T
|
|
|
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.1109-20C>T
|
rs2147915068
|
|
NM_000143.4(FH):c.1109-4G>A
|
rs959933221
|
|
NM_000143.4(FH):c.1109-4G>C
|
|
|
NM_000143.4(FH):c.1110C>T (p.Gly370=)
|
|
|
NM_000143.4(FH):c.1119C>T (p.Asn373=)
|
rs542014575
|
|
NM_000143.4(FH):c.1122T>C (p.Pro374=)
|
|
|
NM_000143.4(FH):c.1128G>A (p.Gln376=)
|
|
|
NM_000143.4(FH):c.1134A>G (p.Glu378=)
|
|
|
NM_000143.4(FH):c.1137A>G (p.Ala379=)
|
|
|
NM_000143.4(FH):c.1149T>C (p.Val383=)
|
|
|
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.1152A>C (p.Ala384=)
|
rs2147914968
|
|
NM_000143.4(FH):c.1155C>T (p.Ala385=)
|
|
|
NM_000143.4(FH):c.1161C>T (p.Val387=)
|
|
|
NM_000143.4(FH):c.1176T>C (p.Val392=)
|
|
|
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.1194C>A (p.Gly398=)
|
rs1659805814
|
|
NM_000143.4(FH):c.1194C>T (p.Gly398=)
|
rs1659805814
|
|
NM_000143.4(FH):c.1197C>T (p.Ser399=)
|
rs1659805592
|
|
NM_000143.4(FH):c.1200T>C (p.Asn400=)
|
rs1659805291
|
|
NM_000143.4(FH):c.1203A>G (p.Gly401=)
|
|
|
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.1224C>T (p.Phe408=)
|
|
|
NM_000143.4(FH):c.1230A>G (p.Pro410=)
|
|
|
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+346_1236+355del
|
rs143840817
|
|
NM_000143.4(FH):c.1236+8T>G
|
|
|
NM_000143.4(FH):c.1237-10T>C
|
rs2147913445
|
|
NM_000143.4(FH):c.1237-10_1237-9dup
|
rs1553340717
|
|
NM_000143.4(FH):c.1237-12_1237-11del
|
|
|
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCA
|
rs1553340726
|
|
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCA
|
|
|
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCTCTCA
|
rs1553340727
|
|
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.1237-16T>A
|
|
|
NM_000143.4(FH):c.1237-16_1237-9dup
|
rs1553340718
|
|
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[14]
|
|
|
NM_000143.4(FH):c.1237-50TC[15]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[16]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[17]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[18]
|
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.1237-50TC[27]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[28]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[29]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-5C>G
|
rs200926050
|
|
NM_000143.4(FH):c.1237-5C>T
|
rs200926050
|
|
NM_000143.4(FH):c.1237-9_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.123G>A (p.Ala41=)
|
rs1660317620
|
|
NM_000143.4(FH):c.123G>C (p.Ala41=)
|
rs1660317620
|
|
NM_000143.4(FH):c.123G>T (p.Ala41=)
|
|
|
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.1257A>C (p.Ser419=)
|
|
|
NM_000143.4(FH):c.1266G>A (p.Leu422=)
|
|
|
NM_000143.4(FH):c.1269G>A (p.Leu423=)
|
rs2147913292
|
|
NM_000143.4(FH):c.1272G>A (p.Gly424=)
|
|
|
NM_000143.4(FH):c.1278T>A (p.Ala426=)
|
|
|
NM_000143.4(FH):c.1284T>C (p.Val428=)
|
|
|
NM_000143.4(FH):c.1287C>A (p.Ser429=)
|
|
|
NM_000143.4(FH):c.1287C>T (p.Ser429=)
|
rs2147913245
|
|
NM_000143.4(FH):c.12A>T (p.Ala4=)
|
rs201277370
|
|
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.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+35A>G
|
rs1660315752
|
|
NM_000143.4(FH):c.132+7G>A
|
rs1006041574
|
|
NM_000143.4(FH):c.1323T>C (p.Asn441=)
|
|
|
NM_000143.4(FH):c.1326A>C (p.Thr442=)
|
|
|
NM_000143.4(FH):c.1326A>G (p.Thr442=)
|
rs2147913140
|
|
NM_000143.4(FH):c.1326A>T (p.Thr442=)
|
|
|
NM_000143.4(FH):c.1329A>G (p.Glu443=)
|
|
|
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.133-5T>C
|
|
|
NM_000143.4(FH):c.133-7T>C
|
|
|
NM_000143.4(FH):c.133-8G>C
|
rs2147925319
|
|
NM_000143.4(FH):c.1330A>C (p.Arg444=)
|
rs749266351
|
|
NM_000143.4(FH):c.1342C>T (p.Leu448=)
|
rs2147913090
|
|
NM_000143.4(FH):c.1356T>C (p.Ser452=)
|
|
|
NM_000143.4(FH):c.1357C>T (p.Leu453=)
|
|
|
NM_000143.4(FH):c.1359A>G (p.Leu453=)
|
rs2147913040
|
|
NM_000143.4(FH):c.1368G>A (p.Val456=)
|
|
|
NM_000143.4(FH):c.1371A>G (p.Thr457=)
|
|
|
NM_000143.4(FH):c.1380T>C (p.Asn460=)
|
|
|
NM_000143.4(FH):c.1386T>C (p.His462=)
|
|
|
NM_000143.4(FH):c.138C>T (p.Ser46=)
|
|
|
NM_000143.4(FH):c.1390+17T>C
|
|
|
NM_000143.4(FH):c.1390+50C>T
|
|
|
NM_000143.4(FH):c.1390+5G>A
|
rs1352808353
|
|
NM_000143.4(FH):c.1390+9T>A
|
|
|
NM_000143.4(FH):c.1390+9T>C
|
|
|
NM_000143.4(FH):c.1391-13A>T
|
|
|
NM_000143.4(FH):c.1391-13_1391-11del
|
|
|
NM_000143.4(FH):c.1391-17T>A
|
|
|
NM_000143.4(FH):c.1391-17T>G
|
|
|
NM_000143.4(FH):c.1391-18T>G
|
|
|
NM_000143.4(FH):c.1391-19C>A
|
rs750363222
|
|
NM_000143.4(FH):c.1391-19C>G
|
|
|
NM_000143.4(FH):c.1391-9T>G
|
rs2147911387
|
|
NM_000143.4(FH):c.1392G>A (p.Gly464=)
|
rs2147911364
|
|
NM_000143.4(FH):c.1398C>T (p.Asp466=)
|
rs1558395525
|
|
NM_000143.4(FH):c.1404A>C (p.Ala468=)
|
|
|
NM_000143.4(FH):c.1410G>A (p.Lys470=)
|
rs1343209025
|
|
NM_000143.4(FH):c.1413T>C (p.Ile471=)
|
|
|
NM_000143.4(FH):c.1415C>T (p.Ala472Val)
|
rs765643179
|
|
NM_000143.4(FH):c.1416T>A (p.Ala472=)
|
|
|
NM_000143.4(FH):c.1419G>A (p.Lys473=)
|
|
|
NM_000143.4(FH):c.141A>G (p.Gln47=)
|
rs1573888563
|
|
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.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.1440A>T (p.Ser480=)
|
|
|
NM_000143.4(FH):c.1443C>T (p.Thr481=)
|
rs780200136
|
|
NM_000143.4(FH):c.1455T>C (p.Thr485=)
|
rs2147911274
|
|
NM_000143.4(FH):c.1458T>C (p.Ala486=)
|
|
|
NM_000143.4(FH):c.1461C>A (p.Ile487=)
|
rs377091029
|
|
NM_000143.4(FH):c.1464A>G (p.Glu488=)
|
|
|
NM_000143.4(FH):c.1467T>C (p.Leu489=)
|
rs1573876542
|
|
NM_000143.4(FH):c.1467T>G (p.Leu489=)
|
|
|
NM_000143.4(FH):c.1470C>G (p.Gly490=)
|
|
|
NM_000143.4(FH):c.1476C>G (p.Leu492=)
|
rs1659663240
|
|
NM_000143.4(FH):c.1482A>C (p.Ala494=)
|
|
|
NM_000143.4(FH):c.1485G>A (p.Glu495=)
|
|
|
NM_000143.4(FH):c.1491T>C (p.Phe497=)
|
|
|
NM_000143.4(FH):c.1506A>G (p.Lys502=)
|
rs1573876491
|
|
NM_000143.4(FH):c.150C>T (p.Phe50=)
|
rs2147925282
|
|
NM_000143.4(FH):c.1512G>A (p.Lys504=)
|
|
|
NM_000143.4(FH):c.151C>A (p.Arg51=)
|
rs778678782
|
|
NM_000143.4(FH):c.1521G>A (p.Leu507=)
|
rs2147911186
|
|
NM_000143.4(FH):c.1524T>G (p.Gly508=)
|
|
|
NM_000143.4(FH):c.153G>C (p.Arg51=)
|
|
|
NM_000143.4(FH):c.15T>G (p.Leu5=)
|
rs2147927079
|
|
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.171T>C (p.Phe57=)
|
rs1573888522
|
|
NM_000143.4(FH):c.177A>G (p.Glu59=)
|
rs2147925246
|
|
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.186G>A (p.Val62=)
|
|
|
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.198G>A (p.Lys66=)
|
rs556439883
|
|
NM_000143.4(FH):c.204T>C (p.Tyr68=)
|
rs1060500883
|
|
NM_000143.4(FH):c.207C>G (p.Gly69=)
|
rs370392829
|
|
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.222A>G (p.Arg74=)
|
|
|
NM_000143.4(FH):c.225T>C (p.Ser75=)
|
|
|
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.240G>A (p.Lys80=)
|
rs1573888362
|
|
NM_000143.4(FH):c.243T>A (p.Ile81=)
|
rs2147925126
|
|
NM_000143.4(FH):c.249T>A (p.Gly83=)
|
rs2147925115
|
|
NM_000143.4(FH):c.24C>T (p.Leu8=)
|
|
|
NM_000143.4(FH):c.252G>A (p.Val84=)
|
rs2147925108
|
|
NM_000143.4(FH):c.255A>G (p.Thr85=)
|
rs2147925102
|
|
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+7G>A
|
rs1660239794
|
|
NM_000143.4(FH):c.267A>C (p.Pro89=)
|
rs1060500897
|
|
NM_000143.4(FH):c.268-16T>G
|
|
|
NM_000143.4(FH):c.268-18T>A
|
rs1430617071
|
|
NM_000143.4(FH):c.268-6T>A
|
|
|
NM_000143.4(FH):c.268-7_268-6del
|
|
|
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.273A>G (p.Pro91=)
|
|
|
NM_000143.4(FH):c.276T>C (p.Val92=)
|
|
|
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.291C>T (p.Gly97=)
|
|
|
NM_000143.4(FH):c.300G>A (p.Lys100=)
|
|
|
NM_000143.4(FH):c.303A>C (p.Arg101=)
|
|
|
NM_000143.4(FH):c.309C>A (p.Ala103=)
|
rs10926501
|
|
NM_000143.4(FH):c.30C>G (p.Arg10=)
|
|
|
NM_000143.4(FH):c.30C>T (p.Arg10=)
|
|
|
NM_000143.4(FH):c.312T>G (p.Ala104=)
|
|
|
NM_000143.4(FH):c.318A>G (p.Val106=)
|
rs2147923011
|
|
NM_000143.4(FH):c.318A>T (p.Val106=)
|
|
|
NM_000143.4(FH):c.336T>C (p.Leu112=)
|
|
|
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.345G>A (p.Lys115=)
|
|
|
NM_000143.4(FH):c.351T>G (p.Ala117=)
|
|
|
NM_000143.4(FH):c.357A>C (p.Ala119=)
|
rs767209674
|
|
NM_000143.4(FH):c.357A>T (p.Ala119=)
|
|
|
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.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+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.379-19T>C
|
|
|
NM_000143.4(FH):c.379-4G>A
|
rs1660104141
|
|
NM_000143.4(FH):c.379-4G>T
|
|
|
NM_000143.4(FH):c.384T>C (p.Ala128=)
|
|
|
NM_000143.4(FH):c.393A>G (p.Lys131=)
|
|
|
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.402T>C (p.Asp134=)
|
|
|
NM_000143.4(FH):c.414C>G (p.Leu138=)
|
rs540968725
|
|
NM_000143.4(FH):c.420A>G (p.Val140=)
|
rs1180706892
|
|
NM_000143.4(FH):c.426G>A (p.Gln142=)
|
rs1660100845
|
|
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.435A>T (p.Ser145=)
|
|
|
NM_000143.4(FH):c.450T>C (p.Asn150=)
|
|
|
NM_000143.4(FH):c.459A>G (p.Val153=)
|
rs1260492902
|
|
NM_000143.4(FH):c.45G>C (p.Val15=)
|
|
|
NM_000143.4(FH):c.462T>C (p.Asn154=)
|
rs2147921891
|
|
NM_000143.4(FH):c.477T>C (p.Asn159=)
|
rs372913738
|
|
NM_000143.4(FH):c.480A>G (p.Arg160=)
|
rs2147921868
|
|
NM_000143.4(FH):c.486T>C (p.Ile162=)
|
rs1573885412
|
|
NM_000143.4(FH):c.493T>C (p.Leu165=)
|
|
|
NM_000143.4(FH):c.498A>G (p.Gly166=)
|
rs2147921845
|
|
NM_000143.4(FH):c.501T>C (p.Gly167=)
|
|
|
NM_000143.4(FH):c.504A>G (p.Glu168=)
|
|
|
NM_000143.4(FH):c.507T>G (p.Leu169=)
|
|
|
NM_000143.4(FH):c.513C>T (p.Ser171=)
|
|
|
NM_000143.4(FH):c.51T>C (p.Ala17=)
|
|
|
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.531C>G (p.Pro177=)
|
rs202056137
|
|
NM_000143.4(FH):c.543T>C (p.Val181=)
|
rs2147921766
|
|
NM_000143.4(FH):c.546T>C (p.Asn182=)
|
|
|
NM_000143.4(FH):c.54A>T (p.Pro18=)
|
rs1660321087
|
|
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+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+4A>G
|
rs776240700
|
|
NM_000143.4(FH):c.555+7A>G
|
|
|
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.556-17T>C
|
|
|
NM_000143.4(FH):c.556-18T>C
|
|
|
NM_000143.4(FH):c.556-19T>G
|
|
|
NM_000143.4(FH):c.556-5A>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.558C>T (p.Ser186=)
|
rs2147919721
|
|
NM_000143.4(FH):c.567T>C (p.Asp189=)
|
rs2147919705
|
|
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.57C>G (p.Ala19=)
|
|
|
NM_000143.4(FH):c.57C>T (p.Ala19=)
|
rs1469317078
|
|
NM_000143.4(FH):c.582A>C (p.Ala194=)
|
|
|
NM_000143.4(FH):c.597T>C (p.Ala199=)
|
|
|
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.603A>C (p.Ile201=)
|
|
|
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.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.621G>A (p.Leu207=)
|
rs1210947784
|
|
NM_000143.4(FH):c.627A>G (p.Pro209=)
|
|
|
NM_000143.4(FH):c.633A>G (p.Leu211=)
|
rs2147919592
|
|
NM_000143.4(FH):c.636G>A (p.Gln212=)
|
rs1270956851
|
|
NM_000143.4(FH):c.651T>C (p.Ala217=)
|
|
|
NM_000143.4(FH):c.654T>C (p.Leu218=)
|
|
|
NM_000143.4(FH):c.654T>G (p.Leu218=)
|
|
|
NM_000143.4(FH):c.669A>G (p.Lys223=)
|
rs1573883183
|
|
NM_000143.4(FH):c.670G>A (p.Glu224Lys)
|
rs1060500905
|
|
NM_000143.4(FH):c.675T>C (p.Phe225=)
|
|
|
NM_000143.4(FH):c.678A>C (p.Ala226=)
|
|
|
NM_000143.4(FH):c.678A>G (p.Ala226=)
|
rs757078832
|
|
NM_000143.4(FH):c.687C>T (p.Ile229=)
|
|
|
NM_000143.4(FH):c.702T>A (p.Thr234=)
|
|
|
NM_000143.4(FH):c.705T>C (p.His235=)
|
rs919993170
|
|
NM_000143.4(FH):c.708T>C (p.Thr236=)
|
|
|
NM_000143.4(FH):c.708T>G (p.Thr236=)
|
|
|
NM_000143.4(FH):c.711G>A (p.Gln237=)
|
rs1659989732
|
|
NM_000143.4(FH):c.714T>C (p.Asp238=)
|
rs2147919423
|
|
NM_000143.4(FH):c.723A>G (p.Pro241=)
|
rs2147919405
|
|
NM_000143.4(FH):c.729T>C (p.Thr243=)
|
rs1573883071
|
|
NM_000143.4(FH):c.72G>C (p.Ser24=)
|
|
|
NM_000143.4(FH):c.72G>T (p.Ser24=)
|
|
|
NM_000143.4(FH):c.732T>C (p.Leu244=)
|
rs1277279137
|
|
NM_000143.4(FH):c.735G>C (p.Gly245=)
|
rs1448288377
|
|
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+20T>C
|
|
|
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.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.739-13_739-11del
|
rs771766378
|
|
NM_000143.4(FH):c.739-17TTTTC[2]
|
rs745617145
|
|
NM_000143.4(FH):c.739-200G>A
|
rs137943762
|
|
NM_000143.4(FH):c.739-5T>A
|
|
|
NM_000143.4(FH):c.739-9T>C
|
rs779074287
|
|
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.750T>C (p.Gly250=)
|
|
|
NM_000143.4(FH):c.75T>G (p.Ala25=)
|
|
|
NM_000143.4(FH):c.767A>C (p.Lys256Thr)
|
rs978988174
|
|
NM_000143.4(FH):c.768A>G (p.Lys256=)
|
|
|
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.780A>C (p.Thr260=)
|
|
|
NM_000143.4(FH):c.783A>G (p.Arg261=)
|
rs1573881721
|
|
NM_000143.4(FH):c.78C>T (p.Pro26=)
|
rs1029677665
|
|
NM_000143.4(FH):c.795C>T (p.Ala265=)
|
rs2147917699
|
|
NM_000143.4(FH):c.7C>A (p.Arg3=)
|
|
|
NM_000143.4(FH):c.801A>G (p.Pro267=)
|
|
|
NM_000143.4(FH):c.807C>A (p.Ile269=)
|
rs2147917660
|
|
NM_000143.4(FH):c.807C>T (p.Ile269=)
|
rs2147917660
|
|
NM_000143.4(FH):c.810T>C (p.Tyr270=)
|
|
|
NM_000143.4(FH):c.816C>G (p.Leu272=)
|
|
|
NM_000143.4(FH):c.81C>G (p.Gly27=)
|
|
|
NM_000143.4(FH):c.825A>T (p.Gly275=)
|
|
|
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.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.855T>C (p.Thr285=)
|
rs1573881600
|
|
NM_000143.4(FH):c.861T>A (p.Ile287=)
|
|
|
NM_000143.4(FH):c.861T>C (p.Ile287=)
|
|
|
NM_000143.4(FH):c.864C>T (p.Gly288=)
|
|
|
NM_000143.4(FH):c.870A>G (p.Ala290=)
|
|
|
NM_000143.4(FH):c.885A>G (p.Ala295=)
|
rs199635833
|
|
NM_000143.4(FH):c.897A>G (p.Ala299=)
|
rs1553341151
|
|
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.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+20A>G
|
|
|
NM_000143.4(FH):c.904+21T>A
|
|
|
NM_000143.4(FH):c.904+9T>A
|
rs1467613193
|
|
NM_000143.4(FH):c.904+9T>G
|
rs1467613193
|
|
NM_000143.4(FH):c.905-10T>G
|
rs1060504080
|
|
NM_000143.4(FH):c.905-12T>A
|
|
|
NM_000143.4(FH):c.905-17A>G
|
|
|
NM_000143.4(FH):c.905-19A>T
|
|
|
NM_000143.4(FH):c.905-20G>A
|
|
|
NM_000143.4(FH):c.905-3T>C
|
rs1573880626
|
|
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.906C>A (p.Gly302=)
|
|
|
NM_000143.4(FH):c.906C>T (p.Gly302=)
|
rs1573880617
|
|
NM_000143.4(FH):c.907T>C (p.Leu303=)
|
|
|
NM_000143.4(FH):c.909G>A (p.Leu303=)
|
|
|
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.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.927G>C (p.Pro309=)
|
|
|
NM_000143.4(FH):c.930T>C (p.Asn310=)
|
|
|
NM_000143.4(FH):c.936T>C (p.Phe312=)
|
|
|
NM_000143.4(FH):c.93G>T (p.Ala31=)
|
|
|
NM_000143.4(FH):c.942T>C (p.Ala314=)
|
|
|
NM_000143.4(FH):c.943C>T (p.Leu315=)
|
rs1573880536
|
|
NM_000143.4(FH):c.951T>C (p.Ala317=)
|
rs1659855471
|
|
NM_000143.4(FH):c.960T>G (p.Ala320=)
|
|
|
NM_000143.4(FH):c.96C>G (p.Ala32=)
|
rs750087000
|
|
NM_000143.4(FH):c.96C>T (p.Ala32=)
|
|
|
NM_000143.4(FH):c.981C>T (p.Ala327=)
|
rs1060504078
|
|
NM_000143.4(FH):c.990T>G (p.Thr330=)
|
rs1659853439
|
|
NM_000143.4(FH):c.996C>G (p.Ala332=)
|
|
|
NM_000143.4(FH):c.996C>T (p.Ala332=)
|
|
|
NM_000143.4(FH):c.999C>T (p.Cys333=)
|
rs1553341031
|
|
NM_000143.4(FH):c.99G>A (p.Val33=)
|
|
|
NM_000143.4(FH):c.9A>G (p.Arg3=)
|
|
|