ClinVar Miner

List of variants in gene FH studied for Fumarase deficiency

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 398
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HGVS dbSNP
FH, DEL
NC_000001.10:g.(?_241660857)_(241667545_?)del
NC_000001.10:g.(?_241660857)_(241683085_?)del
NC_000001.10:g.(?_241661118)_(241667555_?)del
NC_000001.10:g.(?_241661118)_(241672095_?)del
NC_000001.10:g.(?_241661118)_(241683032_?)del
NC_000001.10:g.(?_241661118)_(241683032_?)dup
NC_000001.10:g.(?_241661122)_(241683028_?)dup
NC_000001.10:g.(?_241669293)_(241669478_?)del
NC_000001.10:g.(?_241682885)_(241683028_?)del
NM_000143.3(FH):c.*102T>C rs200093224
NM_000143.3(FH):c.*221_*222delTT rs112946286
NM_000143.3(FH):c.*266A>G rs113667027
NM_000143.3(FH):c.*92G>T rs202167168
NM_000143.3(FH):c.-11C>T rs200942733
NM_000143.3(FH):c.-48G>T rs886046320
NM_000143.3(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1021G>A (p.Asp341Asn) rs11545655
NM_000143.3(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000143.3(FH):c.1023T>G (p.Asp341Glu) rs863223973
NM_000143.3(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.3(FH):c.1028del (p.Arg343fs) rs1553341026
NM_000143.3(FH):c.1035G>A (p.Leu345=) rs1558397757
NM_000143.3(FH):c.1036G>A (p.Gly346Ser) rs1553341024
NM_000143.3(FH):c.103T>C (p.Ser35Pro)
NM_000143.3(FH):c.1040C>T (p.Ser347Phe)
NM_000143.3(FH):c.1041del (p.Gly348fs) rs1060499641
NM_000143.3(FH):c.1048C>T (p.Arg350Trp) rs755436052
NM_000143.3(FH):c.1049G>A (p.Arg350Gln) rs749316923
NM_000143.3(FH):c.1051T>G (p.Ser351Ala)
NM_000143.3(FH):c.1052C>A (p.Ser351Ter) rs1060500896
NM_000143.3(FH):c.1052C>G (p.Ser351Ter) rs1060500896
NM_000143.3(FH):c.105G>A (p.Ser35=) rs181655698
NM_000143.3(FH):c.1063G>T (p.Glu355Ter) rs1060499642
NM_000143.3(FH):c.1066T>C (p.Leu356=) rs1157405003
NM_000143.3(FH):c.1072T>C (p.Leu358=) rs918902822
NM_000143.3(FH):c.1077T>A (p.Pro359=) rs750535216
NM_000143.3(FH):c.1082del (p.Asn361fs) rs1553341012
NM_000143.3(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.3(FH):c.1084G>C (p.Glu362Gln) rs121913119
NM_000143.3(FH):c.1086A>G (p.Glu362=) rs1553341008
NM_000143.3(FH):c.1088C>G (p.Pro363Arg)
NM_000143.3(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.3(FH):c.1097G>A (p.Ser366Asn) rs863224004
NM_000143.3(FH):c.10G>A (p.Ala4Thr)
NM_000143.3(FH):c.1108+1G>T rs1057517734
NM_000143.3(FH):c.1109-7C>T rs1060504079
NM_000143.3(FH):c.1109G>A (p.Gly370Asp) rs1553340894
NM_000143.3(FH):c.1112del (p.Lys371fs) rs1060500904
NM_000143.3(FH):c.1117_1119del (p.Asn373del) rs1553340884
NM_000143.3(FH):c.1118A>G (p.Asn373Ser) rs1060499643
NM_000143.3(FH):c.1118A>T (p.Asn373Ile)
NM_000143.3(FH):c.1119C>T (p.Asn373=) rs542014575
NM_000143.3(FH):c.1123A>G (p.Thr375Ala)
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.1130G>A (p.Cys377Tyr) rs1553340880
NM_000143.3(FH):c.1138A>G (p.Met380Val) rs587778362
NM_000143.3(FH):c.1138del (p.Ala379_Met380insTer) rs781466938
NM_000143.3(FH):c.1138dup (p.Met380fs) rs781466938
NM_000143.3(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.3(FH):c.1151C>T (p.Ala384Val)
NM_000143.3(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.3(FH):c.1163T>C (p.Met388Thr) rs876660830
NM_000143.3(FH):c.1165_1174del (p.Gly389fs)
NM_000143.3(FH):c.1184C>T (p.Thr395Ile) rs878853690
NM_000143.3(FH):c.1189G>A (p.Gly397Arg) rs863224007
NM_000143.3(FH):c.1195A>G (p.Ser399Gly) rs1372936109
NM_000143.3(FH):c.1204C>T (p.His402Tyr)
NM_000143.3(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.3(FH):c.1205del (p.His402fs) rs1558397011
NM_000143.3(FH):c.120_130del (p.Ala41fs)
NM_000143.3(FH):c.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1231A>G (p.Met411Val)
NM_000143.3(FH):c.1236+14C>T rs149241949
NM_000143.3(FH):c.1236+1G>A rs1131691249
NM_000143.3(FH):c.1236+1G>C rs1131691249
NM_000143.3(FH):c.1236G>A (p.Met412Ile)
NM_000143.3(FH):c.1237-10_1237-9dupTC rs1553340717
NM_000143.3(FH):c.1237-12A>T rs74405673
NM_000143.3(FH):c.1237-14_1237-13delTC rs144131869
NM_000143.3(FH):c.1237-14_1237-9dup rs779985493
NM_000143.3(FH):c.1237-16_1237-13delTCTC rs144131869
NM_000143.3(FH):c.1237-18_1237-13dupTCTCTC rs144131869
NM_000143.3(FH):c.1237-20_1237-13dupTCTCTCTC rs144131869
NM_000143.3(FH):c.1237-22_1237-13dupTCTCTCTCTC rs144131869
NM_000143.3(FH):c.1237-24_1237-13dupTCTCTCTCTCTC rs144131869
NM_000143.3(FH):c.1237-50TC[20] rs144131869
NM_000143.3(FH):c.1237-50TC[21] rs144131869
NM_000143.3(FH):c.1237-5C>G
NM_000143.3(FH):c.1237-5C>T rs200926050
NM_000143.3(FH):c.1237-5_1237-4insTCTC rs886046316
NM_000143.3(FH):c.1237-7C>T rs376260223
NM_000143.3(FH):c.1237-7_1237-4dupCTCA rs750898743
NM_000143.3(FH):c.1237-9C>T rs767413280
NM_000143.3(FH):c.1237-9_1237-8insTCTCTC rs1553340717
NM_000143.3(FH):c.1251dup (p.His418fs) rs1553340708
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.3(FH):c.1270G>A (p.Gly424Arg) rs1553340705
NM_000143.3(FH):c.1277C>A (p.Ala426Asp) rs1553340703
NM_000143.3(FH):c.127C>G (p.Arg43Gly) rs200496951
NM_000143.3(FH):c.127C>T (p.Arg43Ter)
NM_000143.3(FH):c.1282G>C (p.Val428Leu) rs1558396381
NM_000143.3(FH):c.1286C>G (p.Ser429Cys) rs1558396375
NM_000143.3(FH):c.1292C>T (p.Thr431Ile) rs201005880
NM_000143.3(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.3(FH):c.1294_1336dup (p.Asn446fs) rs1553340686
NM_000143.3(FH):c.12A>G (p.Ala4=) rs201277370
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.1302C>T (p.Cys434=) rs2070080
NM_000143.3(FH):c.1303G>A (p.Val435Met) rs147528200
NM_000143.3(FH):c.1306G>T (p.Val436Leu) rs1324526971
NM_000143.3(FH):c.1308G>A (p.Val436=) rs201535626
NM_000143.3(FH):c.1314C>T (p.Ile438=) rs140873869
NM_000143.3(FH):c.132+5G>A rs1060499627
NM_000143.3(FH):c.1322A>G (p.Asn441Ser) rs1357584529
NM_000143.3(FH):c.1325C>G (p.Thr442Arg) rs1060500899
NM_000143.3(FH):c.1327G>T (p.Glu443Ter)
NM_000143.3(FH):c.1328_1331dup (p.Ile445fs)
NM_000143.3(FH):c.132G>A (p.Met44Ile) rs863223982
NM_000143.3(FH):c.133-3T>C rs1553341989
NM_000143.3(FH):c.1330A>G (p.Arg444Gly)
NM_000143.3(FH):c.1339A>T (p.Lys447Ter) rs863223977
NM_000143.3(FH):c.1347del (p.Met449fs) rs1060500903
NM_000143.3(FH):c.1351G>T (p.Glu451Ter) rs1558396320
NM_000143.3(FH):c.1354T>A (p.Ser452Thr)
NM_000143.3(FH):c.1362G>A (p.Met454Ile)
NM_000143.3(FH):c.1370_1371insTCAC (p.Ala458fs) rs863223992
NM_000143.3(FH):c.1379A>G (p.Asn460Ser) rs767253363
NM_000143.3(FH):c.1384C>T (p.His462Tyr) rs201625211
NM_000143.3(FH):c.1390+2T>C rs1558396285
NM_000143.3(FH):c.1391-1G>A rs863223978
NM_000143.3(FH):c.1391-1G>C rs863223978
NM_000143.3(FH):c.1391G>T (p.Gly464Val) rs1131691250
NM_000143.3(FH):c.1394A>G (p.Tyr465Cys) rs863224010
NM_000143.3(FH):c.1398C>G (p.Asp466Glu) rs1558395525
NM_000143.3(FH):c.139C>T (p.Gln47Ter) rs863223980
NM_000143.3(FH):c.1405G>A (p.Ala469Thr) rs1060500906
NM_000143.3(FH):c.1408A>G (p.Lys470Glu) rs922905323
NM_000143.3(FH):c.1415C>T (p.Ala472Val)
NM_000143.3(FH):c.1421C>G (p.Thr474Arg) rs369802820
NM_000143.3(FH):c.1421C>T (p.Thr474Ile) rs369802820
NM_000143.3(FH):c.1428C>T (p.His476=) rs199887605
NM_000143.3(FH):c.1430_1437dup (p.Ser480fs) rs863223994
NM_000143.3(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.3(FH):c.1433A>G (p.Asn478Ser) rs201886827
NM_000143.3(FH):c.1434T>A (p.Asn478Lys)
NM_000143.3(FH):c.1434T>C (p.Asn478=) rs786202199
NM_000143.3(FH):c.1435G>T (p.Gly479Ter)
NM_000143.3(FH):c.1443C>G (p.Thr481=) rs780200136
NM_000143.3(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.3(FH):c.1447A>C (p.Lys483Gln) rs1017406473
NM_000143.3(FH):c.1461C>T (p.Ile487=) rs377091029
NM_000143.3(FH):c.1462G>A (p.Glu488Lys) rs201115573
NM_000143.3(FH):c.1468G>C (p.Gly490Arg) rs1553340515
NM_000143.3(FH):c.1471T>C (p.Tyr491His) rs749713004
NM_000143.3(FH):c.1473_1474TC[1] (p.Leu492fs) rs886041201
NM_000143.3(FH):c.1478C>A (p.Thr493Lys) rs1558395446
NM_000143.3(FH):c.1479_1483AGCAG[1] (p.Glu495fs) rs1060500907
NM_000143.3(FH):c.1481C>G (p.Ala494Gly) rs752369363
NM_000143.3(FH):c.1482A>G (p.Ala494=) rs201559643
NM_000143.3(FH):c.14T>C (p.Leu5Pro)
NM_000143.3(FH):c.1503A>G (p.Val501=) rs1553340502
NM_000143.3(FH):c.1508_1509insCAAACC (p.Pro503_Lys504dup) rs1060500895
NM_000143.3(FH):c.151C>T (p.Arg51Trp)
NM_000143.3(FH):c.152G>C (p.Arg51Pro)
NM_000143.3(FH):c.153G>A (p.Arg51=) rs757002779
NM_000143.3(FH):c.166A>G (p.Thr56Ala) rs1232573732
NM_000143.3(FH):c.172G>A (p.Gly58Ser)
NM_000143.3(FH):c.174_177dup (p.Leu60Ter) rs1131691246
NM_000143.3(FH):c.175G>T (p.Glu59Ter)
NM_000143.3(FH):c.185_188dup (p.Asn64fs) rs1558402255
NM_000143.3(FH):c.187C>T (p.Pro63Ser)
NM_000143.3(FH):c.190A>G (p.Asn64Asp) rs886046319
NM_000143.3(FH):c.193G>A (p.Asp65Asn) rs769956664
NM_000143.3(FH):c.194A>G (p.Asp65Gly) rs145116688
NM_000143.3(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.3(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.3(FH):c.1A>G (p.Met1Val) rs776806414
NM_000143.3(FH):c.1A>T (p.Met1Leu)
NM_000143.3(FH):c.201T>G (p.Tyr67Ter) rs1558402241
NM_000143.3(FH):c.204T>A (p.Tyr68Ter) rs1060500883
NM_000143.3(FH):c.207C>T (p.Gly69=) rs370392829
NM_000143.3(FH):c.208G>A (p.Ala70Thr) rs587782207
NM_000143.3(FH):c.209C>T (p.Ala70Val)
NM_000143.3(FH):c.217G>A (p.Val73Met) rs201878591
NM_000143.3(FH):c.222A>T (p.Arg74Ser) rs146739519
NM_000143.3(FH):c.227C>T (p.Thr76Met)
NM_000143.3(FH):c.228G>A (p.Thr76=) rs373586584
NM_000143.3(FH):c.228G>C (p.Thr76=) rs373586584
NM_000143.3(FH):c.230T>C (p.Met77Thr)
NM_000143.3(FH):c.232A>C (p.Asn78His) rs1558402209
NM_000143.3(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.3(FH):c.245G>A (p.Gly82Glu) rs1558402197
NM_000143.3(FH):c.251T>C (p.Val84Ala) rs878853692
NM_000143.3(FH):c.259C>T (p.Arg87Cys) rs139642944
NM_000143.3(FH):c.267+1G>A rs878853691
NM_000143.3(FH):c.267+1G>C rs878853691
NM_000143.3(FH):c.267A>C (p.Pro89=) rs1060500897
NM_000143.3(FH):c.269C>T (p.Thr90Ile)
NM_000143.3(FH):c.26C>G (p.Ala9Gly) rs766915154
NM_000143.3(FH):c.270C>T (p.Thr90=) rs748852152
NM_000143.3(FH):c.27G>A (p.Ala9=) rs983362570
NM_000143.3(FH):c.288T>C (p.Phe96=) rs747348623
NM_000143.3(FH):c.301C>T (p.Arg101Ter) rs121913120
NM_000143.3(FH):c.301_319del (p.Arg101fs) rs1558401094
NM_000143.3(FH):c.302G>A (p.Arg101Gln) rs75086406
NM_000143.3(FH):c.305C>T (p.Ala102Val) rs61753295
NM_000143.3(FH):c.306G>A (p.Ala102=) rs142283468
NM_000143.3(FH):c.309C>T (p.Ala103=) rs10926501
NM_000143.3(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.3(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000143.3(FH):c.327T>G (p.Asp109Glu)
NM_000143.3(FH):c.339T>A (p.Asp113Glu)
NM_000143.3(FH):c.33G>A (p.Ser11=) rs200542051
NM_000143.3(FH):c.33G>C (p.Ser11=) rs200542051
NM_000143.3(FH):c.344del (p.Lys115fs)
NM_000143.3(FH):c.346A>T (p.Ile116Phe) rs201532589
NM_000143.3(FH):c.352A>G (p.Asn118Asp)
NM_000143.3(FH):c.353del (p.Asn118fs) rs1558401064
NM_000143.3(FH):c.356C>T (p.Ala119Val)
NM_000143.3(FH):c.357A>C (p.Ala119=) rs767209674
NM_000143.3(FH):c.358A>G (p.Ile120Val) rs199641124
NM_000143.3(FH):c.35G>T (p.Arg12Leu)
NM_000143.3(FH):c.379-10T>G rs201020261
NM_000143.3(FH):c.379-15A>T rs374529177
NM_000143.3(FH):c.379-1G>A rs1553341623
NM_000143.3(FH):c.379-7dup rs761444069
NM_000143.3(FH):c.379G>T (p.Val127Leu) rs878853693
NM_000143.3(FH):c.37C>A (p.Pro13Thr)
NM_000143.3(FH):c.382G>A (p.Ala128Thr) rs1553341620
NM_000143.3(FH):c.399T>C (p.Asn133=) rs376056309
NM_000143.3(FH):c.39C>T (p.Pro13=) rs1060504077
NM_000143.3(FH):c.404A>C (p.His135Pro) rs786202833
NM_000143.3(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.3(FH):c.40C>T (p.Leu14Phe) rs981562354
NM_000143.3(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.3(FH):c.412C>G (p.Leu138Val) rs1466082062
NM_000143.3(FH):c.415G>A (p.Val139Met)
NM_000143.3(FH):c.416T>G (p.Val139Gly)
NM_000143.3(FH):c.417G>A (p.Val139=)
NM_000143.3(FH):c.418G>C (p.Val140Leu) rs746195750
NM_000143.3(FH):c.418del (p.Val140fs)
NM_000143.3(FH):c.41T>C (p.Leu14Pro) rs1553342163
NM_000143.3(FH):c.420A>G (p.Val140=) rs1180706892
NM_000143.3(FH):c.424C>T (p.Gln142Ter)
NM_000143.3(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.3(FH):c.439A>G (p.Thr147Ala) rs863223983
NM_000143.3(FH):c.442C>T (p.Gln148Ter) rs1558400571
NM_000143.3(FH):c.444G>A (p.Gln148=) rs928534157
NM_000143.3(FH):c.451A>T (p.Met151Leu)
NM_000143.3(FH):c.46C>T (p.Arg16Trp) rs1324875131
NM_000143.3(FH):c.473G>A (p.Ser158Asn) rs1060500902
NM_000143.3(FH):c.478A>G (p.Arg160Gly) rs878853694
NM_000143.3(FH):c.48G>T (p.Arg16=) rs1468361143
NM_000143.3(FH):c.497G>A (p.Gly166Glu)
NM_000143.3(FH):c.4T>C (p.Tyr2His) rs112335468
NM_000143.3(FH):c.500G>T (p.Gly167Val) rs1558400520
NM_000143.3(FH):c.502G>C (p.Glu168Gln)
NM_000143.3(FH):c.509G>A (p.Gly170Asp)
NM_000143.3(FH):c.50C>T (p.Ala17Val) rs111548093
NM_000143.3(FH):c.514A>G (p.Lys172Glu) rs201154463
NM_000143.3(FH):c.517A>T (p.Ile173Leu) rs1558400504
NM_000143.3(FH):c.521C>A (p.Pro174His)
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.525G>A (p.Val175=) rs1553341592
NM_000143.3(FH):c.531C>G (p.Pro177=) rs202056137
NM_000143.3(FH):c.535G>A (p.Asp179Asn) rs1553341588
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000143.3(FH):c.540T>C (p.His180=) rs766280573
NM_000143.3(FH):c.545A>G (p.Asn182Ser) rs1558400468
NM_000143.3(FH):c.552C>G (p.Ser184Arg)
NM_000143.3(FH):c.552C>T (p.Ser184=) rs377660762
NM_000143.3(FH):c.553_554insTG (p.Gln185fs) rs768182640
NM_000143.3(FH):c.554A>C (p.Gln185Pro)
NM_000143.3(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.3(FH):c.555+3delC rs1553341583
NM_000143.3(FH):c.555+4A>G
NM_000143.3(FH):c.556-2A>G
NM_000143.3(FH):c.556-4A>G rs370229813
NM_000143.3(FH):c.556-5A>G rs1060500892
NM_000143.3(FH):c.556-7C>T rs780483420
NM_000143.3(FH):c.560C>A (p.Ser187Ter) rs398123166
NM_000143.3(FH):c.560C>G (p.Ser187Ter) rs398123166
NM_000143.3(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.564_587delinsG (p.Asn188fs)
NM_000143.3(FH):c.568_569del (p.Thr190fs) rs1553341367
NM_000143.3(FH):c.578C>T (p.Thr193Ile)
NM_000143.3(FH):c.580G>A (p.Ala194Thr) rs587782215
NM_000143.3(FH):c.581C>A (p.Ala194Glu) rs1558399442
NM_000143.3(FH):c.583A>G (p.Met195Val) rs1553341364
NM_000143.3(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000143.3(FH):c.591_593TGC[2] (p.Ala200del) rs786202907
NM_000143.3(FH):c.5A>G (p.Tyr2Cys) rs1553342167
NM_000143.3(FH):c.5dup (p.Tyr2Ter)
NM_000143.3(FH):c.611A>G (p.His204Arg) rs1060500898
NM_000143.3(FH):c.611A>T (p.His204Leu)
NM_000143.3(FH):c.616G>A (p.Val206Ile) rs763183520
NM_000143.3(FH):c.616G>T (p.Val206Leu)
NM_000143.3(FH):c.620T>C (p.Leu207Pro) rs1060500894
NM_000143.3(FH):c.628G>A (p.Gly210Arg) rs949267641
NM_000143.3(FH):c.634C>T (p.Gln212Ter) rs1553341353
NM_000143.3(FH):c.639G>A (p.Lys213=) rs377222193
NM_000143.3(FH):c.63C>T (p.Ala21=) rs555404867
NM_000143.3(FH):c.647A>T (p.Asp216Val) rs1553341348
NM_000143.3(FH):c.648T>A (p.Asp216Glu) rs199536615
NM_000143.3(FH):c.653T>C (p.Leu218Pro) rs1553341345
NM_000143.3(FH):c.655G>A (p.Asp219Asn) rs11545656
NM_000143.3(FH):c.657T>G (p.Asp219Glu)
NM_000143.3(FH):c.658_659delinsTT (p.Ala220Leu) rs1060500893
NM_000143.3(FH):c.65T>A (p.Leu22Ter)
NM_000143.3(FH):c.664T>A (p.Ser222Thr) rs1448268784
NM_000143.3(FH):c.668A>T (p.Lys223Ile)
NM_000143.3(FH):c.670G>A (p.Glu224Lys) rs1060500905
NM_000143.3(FH):c.674T>C (p.Phe225Ser) rs149651434
NM_000143.3(FH):c.677C>A (p.Ala226Glu)
NM_000143.3(FH):c.678A>G (p.Ala226=) rs757078832
NM_000143.3(FH):c.679C>T (p.Gln227Ter) rs11545658
NM_000143.3(FH):c.683T>C (p.Ile228Thr)
NM_000143.3(FH):c.684C>T (p.Ile228=) rs1384151924
NM_000143.3(FH):c.685A>G (p.Ile229Val)
NM_000143.3(FH):c.687C>G (p.Ile229Met)
NM_000143.3(FH):c.688A>G (p.Lys230Glu) rs863223967
NM_000143.3(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.3(FH):c.692T>C (p.Ile231Thr) rs1335587342
NM_000143.3(FH):c.697C>T (p.Arg233Cys) rs587781682
NM_000143.3(FH):c.698G>A (p.Arg233His) rs121913123
NM_000143.3(FH):c.6C>G (p.Tyr2Ter) rs199971078
NM_000143.3(FH):c.6C>T (p.Tyr2=) rs199971078
NM_000143.3(FH):c.700A>C (p.Thr234Pro) rs372505976
NM_000143.3(FH):c.700A>G (p.Thr234Ala) rs372505976
NM_000143.3(FH):c.701C>T (p.Thr234Ile) rs878853695
NM_000143.3(FH):c.702T>G (p.Thr234=) rs201083387
NM_000143.3(FH):c.705T>G (p.His235Gln)
NM_000143.3(FH):c.731T>C (p.Leu244Pro) rs1060499636
NM_000143.3(FH):c.738+2T>C rs1060500901
NM_000143.3(FH):c.739-10T>C rs201971572
NM_000143.3(FH):c.739-2A>C rs1553341174
NM_000143.3(FH):c.739-2A>G
NM_000143.3(FH):c.739G>T (p.Glu247Ter) rs1131691243
NM_000143.3(FH):c.74C>T (p.Ala25Val)
NM_000143.3(FH):c.759A>G (p.Gln253=)
NM_000143.3(FH):c.760C>T (p.Gln254Ter) rs398123167
NM_000143.3(FH):c.776T>A (p.Met259Lys)
NM_000143.3(FH):c.77C>T (p.Pro26Leu) rs187226800
NM_000143.3(FH):c.782G>T (p.Arg261Ile) rs61736558
NM_000143.3(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.3(FH):c.793G>A (p.Ala265Thr) rs387906545
NM_000143.3(FH):c.7C>G (p.Arg3Gly) rs202166344
NM_000143.3(FH):c.809A>G (p.Tyr270Cys) rs202060616
NM_000143.3(FH):c.80G>C (p.Gly27Ala) rs1339215584
NM_000143.3(FH):c.814C>A (p.Leu272Ile) rs779019570
NM_000143.3(FH):c.817G>A (p.Ala273Thr) rs772190176
NM_000143.3(FH):c.823G>A (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.830C>G (p.Thr277Ser) rs1553341160
NM_000143.3(FH):c.844G>C (p.Gly282Arg)
NM_000143.3(FH):c.853A>G (p.Thr285Ala)
NM_000143.3(FH):c.877G>A (p.Val293Ile)
NM_000143.3(FH):c.883G>A (p.Ala295Thr) rs145843819
NM_000143.3(FH):c.893C>G (p.Ala298Gly)
NM_000143.3(FH):c.894T>C (p.Ala298=) rs372099505
NM_000143.3(FH):c.904+1G>A
NM_000143.3(FH):c.905-10T>G rs1060504080
NM_000143.3(FH):c.905-1G>A rs797044973
NM_000143.3(FH):c.905-3T>C
NM_000143.3(FH):c.905-5T>A rs886046318
NM_000143.3(FH):c.908T>C (p.Leu303Ser) rs201502246
NM_000143.3(FH):c.90C>T (p.Gly30=) rs1262096783
NM_000143.3(FH):c.911C>G (p.Pro304Arg) rs200491078
NM_000143.3(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.3(FH):c.917T>C (p.Val306Ala) rs147991516
NM_000143.3(FH):c.919del (p.Thr307fs) rs1553341049
NM_000143.3(FH):c.923C>G (p.Ala308Gly) rs1057524385
NM_000143.3(FH):c.925C>T (p.Pro309Ser) rs368849989
NM_000143.3(FH):c.926C>T (p.Pro309Leu) rs756528378
NM_000143.3(FH):c.927G>A (p.Pro309=) rs61737760
NM_000143.3(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.3(FH):c.935T>G (p.Phe312Cys) rs1553341046
NM_000143.3(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.3(FH):c.944T>C (p.Leu315Pro)
NM_000143.3(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.3(FH):c.94G>T (p.Ala32Ser) rs1371664717
NM_000143.3(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.3(FH):c.957C>T (p.Asp319=) rs146751488
NM_000143.3(FH):c.974G>C (p.Ser325Thr) rs1423324601
NM_000143.3(FH):c.976G>A (p.Gly326Arg)
NM_000143.3(FH):c.977G>A (p.Gly326Glu) rs1553341037
NM_000143.3(FH):c.981C>T (p.Ala327=) rs1060504078
NM_000143.3(FH):c.986A>G (p.Asn329Ser) rs768483509
NM_000143.3(FH):c.988A>C (p.Thr330Pro)
NM_000143.3(FH):c.989C>G (p.Thr330Ser) rs200028270
NM_000143.3(FH):c.991dup (p.Thr331fs) rs1553341034
NM_000143.3(FH):c.994G>A (p.Ala332Thr) rs1157768121
NM_000143.3(FH):c.998G>A (p.Cys333Tyr) rs1553341032
NM_000143.3(FH):c.999C>A (p.Cys333Ter) rs1553341031
Single allele

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