ClinVar Miner

List of variants in gene FH reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 702
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.4T>C (p.Tyr2His) rs112335468 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.883G>A (p.Ala295Thr) rs145843819 0.00018
NM_000143.4(FH):c.217G>A (p.Val73Met) rs201878591 0.00010
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.1127A>C (p.Gln376Pro) rs200796606 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.1421C>G (p.Thr474Arg) rs369802820 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.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.305C>T (p.Ala102Val) rs61753295 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.616G>A (p.Val206Ile) rs763183520 0.00003
NM_000143.4(FH):c.685A>G (p.Ile229Val) rs764065194 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.260G>A (p.Arg87His) rs200007371 0.00002
NM_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000143.4(FH):c.340C>A (p.Pro114Thr) rs199539887 0.00002
NM_000143.4(FH):c.352A>G (p.Asn118Asp) rs200738857 0.00002
NM_000143.4(FH):c.358A>G (p.Ile120Val) rs199641124 0.00002
NM_000143.4(FH):c.451A>T (p.Met151Leu) rs749752047 0.00002
NM_000143.4(FH):c.65T>G (p.Leu22Ter) rs1031919395 0.00002
NM_000143.4(FH):c.664T>A (p.Ser222Thr) rs1448268784 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.925C>T (p.Pro309Ser) rs368849989 0.00002
NM_000143.4(FH):c.926C>T (p.Pro309Leu) rs756528378 0.00002
NM_000143.4(FH):c.101C>T (p.Pro34Leu) rs1398860901 0.00001
NM_000143.4(FH):c.1028G>A (p.Arg343Gln) rs756990249 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.1088C>G (p.Pro363Arg) rs1483975363 0.00001
NM_000143.4(FH):c.1128G>T (p.Gln376His) rs1467002768 0.00001
NM_000143.4(FH):c.1184C>T (p.Thr395Ile) rs878853690 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.1231A>G (p.Met411Val) rs201381362 0.00001
NM_000143.4(FH):c.1236+5G>A rs374494513 0.00001
NM_000143.4(FH):c.1259C>T (p.Ala420Val) rs766377516 0.00001
NM_000143.4(FH):c.127C>G (p.Arg43Gly) rs200496951 0.00001
NM_000143.4(FH):c.1291A>G (p.Thr431Ala) rs1315943292 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000143.4(FH):c.133-3T>C rs1553341989 0.00001
NM_000143.4(FH):c.1347G>C (p.Met449Ile) rs376502356 0.00001
NM_000143.4(FH):c.1348A>C (p.Asn450His) rs1659742832 0.00001
NM_000143.4(FH):c.1390+6T>A rs1338650106 0.00001
NM_000143.4(FH):c.1405G>A (p.Ala469Thr) rs1060500906 0.00001
NM_000143.4(FH):c.1408A>G (p.Lys470Glu) rs922905323 0.00001
NM_000143.4(FH):c.1426C>T (p.His476Tyr) rs1484545927 0.00001
NM_000143.4(FH):c.1433A>G (p.Asn478Ser) rs201886827 0.00001
NM_000143.4(FH):c.1441A>G (p.Thr481Ala) rs1261707355 0.00001
NM_000143.4(FH):c.1447A>C (p.Lys483Gln) rs1017406473 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.1501G>A (p.Val501Ile) rs201893992 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.184G>A (p.Val62Met) rs199894369 0.00001
NM_000143.4(FH):c.190A>G (p.Asn64Asp) rs886046319 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.219G>A (p.Val73=) rs1213056420 0.00001
NM_000143.4(FH):c.222A>T (p.Arg74Ser) rs146739519 0.00001
NM_000143.4(FH):c.227C>T (p.Thr76Met) rs778578307 0.00001
NM_000143.4(FH):c.230T>C (p.Met77Thr) rs1250096728 0.00001
NM_000143.4(FH):c.267A>G (p.Pro89=) rs1060500897 0.00001
NM_000143.4(FH):c.26C>G (p.Ala9Gly) rs766915154 0.00001
NM_000143.4(FH):c.271C>G (p.Pro91Ala) rs1171873052 0.00001
NM_000143.4(FH):c.28C>T (p.Arg10Cys) rs201507555 0.00001
NM_000143.4(FH):c.292A>G (p.Ile98Val) rs1660147766 0.00001
NM_000143.4(FH):c.294C>G (p.Ile98Met) rs1573886484 0.00001
NM_000143.4(FH):c.317T>C (p.Val106Ala) rs1382226356 0.00001
NM_000143.4(FH):c.31T>C (p.Ser11Pro) rs1660323255 0.00001
NM_000143.4(FH):c.327T>G (p.Asp109Glu) rs757312078 0.00001
NM_000143.4(FH):c.332G>A (p.Gly111Asp) rs764340490 0.00001
NM_000143.4(FH):c.34C>T (p.Arg12Cys) rs199912971 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.43G>T (p.Val15Leu) rs1463008959 0.00001
NM_000143.4(FH):c.460A>C (p.Asn154His) rs1660099016 0.00001
NM_000143.4(FH):c.46C>T (p.Arg16Trp) rs1324875131 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.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.628G>A (p.Gly210Arg) rs949267641 0.00001
NM_000143.4(FH):c.62C>G (p.Ala21Gly) rs1131691251 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000143.4(FH):c.658G>A (p.Ala220Thr) rs747135440 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.775A>G (p.Met259Val) rs1343775223 0.00001
NM_000143.4(FH):c.776T>C (p.Met259Thr) rs1407485828 0.00001
NM_000143.4(FH):c.784A>G (p.Ile262Val) rs199829765 0.00001
NM_000143.4(FH):c.788A>C (p.Lys263Thr) rs765997824 0.00001
NM_000143.4(FH):c.800C>T (p.Pro267Leu) rs1415140301 0.00001
NM_000143.4(FH):c.805A>G (p.Ile269Val) rs377015873 0.00001
NM_000143.4(FH):c.80G>C (p.Gly27Ala) rs1339215584 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 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.961C>G (p.Leu321Val) rs763077972 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.98T>G (p.Val33Gly) rs1319755767 0.00001
NC_000001.10:g.(?_241661128)_(241667555_?)dup
NC_000001.10:g.(?_241661128)_(241677023_?)dup
NC_000001.10:g.(?_241669293)_(241683022_?)dup
NC_000001.10:g.(?_241677041)_(241680477_?)del
NC_000001.11:g.(?_241517172)_(241519722_?)dup
NM_000143.3(FH):c.695G>A (p.Gly232Glu) rs727503929
NM_000143.4(FH):c.1000A>G (p.Ser334Gly) rs587782216
NM_000143.4(FH):c.1003C>G (p.Leu335Val) rs1203364199
NM_000143.4(FH):c.100C>T (p.Pro34Ser) rs1191023697
NM_000143.4(FH):c.1012A>C (p.Ile338Leu)
NM_000143.4(FH):c.1013T>C (p.Ile338Thr) rs201975537
NM_000143.4(FH):c.1014A>G (p.Ile338Met)
NM_000143.4(FH):c.1015_1024delinsT (p.Ala339_Ile342delinsPhe)
NM_000143.4(FH):c.1016C>A (p.Ala339Glu) rs1659852423
NM_000143.4(FH):c.1016C>T (p.Ala339Val) rs1659852423
NM_000143.4(FH):c.1025T>C (p.Ile342Thr) rs201383596
NM_000143.4(FH):c.1028G>C (p.Arg343Pro) rs756990249
NM_000143.4(FH):c.1030T>G (p.Phe344Val) rs2147916143
NM_000143.4(FH):c.1035G>A (p.Leu345=) rs1558397757
NM_000143.4(FH):c.1036G>A (p.Gly346Ser) rs1553341024
NM_000143.4(FH):c.103T>C (p.Ser35Pro) rs1573889890
NM_000143.4(FH):c.1040C>T (p.Ser347Phe) rs1573880377
NM_000143.4(FH):c.1046C>G (p.Pro349Arg) rs1553341017
NM_000143.4(FH):c.1051T>A (p.Ser351Thr) rs766918221
NM_000143.4(FH):c.1051T>G (p.Ser351Ala) rs766918221
NM_000143.4(FH):c.1055G>A (p.Gly352Asp) rs1659850534
NM_000143.4(FH):c.1058T>C (p.Leu353Pro)
NM_000143.4(FH):c.1061G>A (p.Gly354Glu) rs1057523184
NM_000143.4(FH):c.1061G>C (p.Gly354Ala) rs1057523184
NM_000143.4(FH):c.1063G>A (p.Glu355Lys)
NM_000143.4(FH):c.1067T>C (p.Leu356Ser)
NM_000143.4(FH):c.1068_1069delinsAC (p.Ile357Leu) rs2147916070
NM_000143.4(FH):c.1069A>G (p.Ile357Val) rs1027877625
NM_000143.4(FH):c.1070T>C (p.Ile357Thr) rs1388251431
NM_000143.4(FH):c.1071C>G (p.Ile357Met) rs1391140770
NM_000143.4(FH):c.1083T>G (p.Asn361Lys) rs1659849280
NM_000143.4(FH):c.1108+3A>G rs200118475
NM_000143.4(FH):c.1108G>C (p.Gly370Arg) rs1659848371
NM_000143.4(FH):c.1109-3A>G rs1659810726
NM_000143.4(FH):c.1109-3A>T
NM_000143.4(FH):c.1109G>A (p.Gly370Asp) rs1553340894
NM_000143.4(FH):c.110G>C (p.Trp37Ser) rs1660318244
NM_000143.4(FH):c.1117_1119del (p.Asn373del) rs1553340884
NM_000143.4(FH):c.1118A>G (p.Asn373Ser) rs1060499643
NM_000143.4(FH):c.1119C>A (p.Asn373Lys) rs542014575
NM_000143.4(FH):c.1119C>T (p.Asn373=) rs542014575
NM_000143.4(FH):c.1123A>G (p.Thr375Ala) rs1573879366
NM_000143.4(FH):c.1124C>T (p.Thr375Ile) rs1659809804
NM_000143.4(FH):c.1129T>C (p.Cys377Arg) rs398123161
NM_000143.4(FH):c.112C>T (p.Pro38Ser)
NM_000143.4(FH):c.1136C>A (p.Ala379Glu) rs2147914999
NM_000143.4(FH):c.113C>T (p.Pro38Leu) rs2147926864
NM_000143.4(FH):c.1147G>C (p.Val383Leu) rs2147914983
NM_000143.4(FH):c.1148T>C (p.Val383Ala)
NM_000143.4(FH):c.1151C>T (p.Ala384Val) rs904463039
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1156C>A (p.Gln386Lys)
NM_000143.4(FH):c.1156C>G (p.Gln386Glu) rs2147914963
NM_000143.4(FH):c.115C>T (p.Pro39Ser) rs2147926857
NM_000143.4(FH):c.1162A>G (p.Met388Val) rs1573879331
NM_000143.4(FH):c.1162A>T (p.Met388Leu)
NM_000143.4(FH):c.1163T>C (p.Met388Thr) rs876660830
NM_000143.4(FH):c.1163T>G (p.Met388Arg) rs876660830
NM_000143.4(FH):c.1169A>G (p.Asn390Ser) rs1178007598
NM_000143.4(FH):c.1170C>A (p.Asn390Lys) rs1659806898
NM_000143.4(FH):c.1170C>G (p.Asn390Lys) rs1659806898
NM_000143.4(FH):c.1171C>T (p.His391Tyr)
NM_000143.4(FH):c.1172A>C (p.His391Pro) rs1659806824
NM_000143.4(FH):c.1172A>G (p.His391Arg) rs1659806824
NM_000143.4(FH):c.1186G>C (p.Val396Leu) rs753996659
NM_000143.4(FH):c.1187T>G (p.Val396Gly) rs1659806206
NM_000143.4(FH):c.11C>A (p.Ala4Glu) rs1252151546
NM_000143.4(FH):c.11C>G (p.Ala4Gly)
NM_000143.4(FH):c.1200T>G (p.Asn400Lys) rs1659805291
NM_000143.4(FH):c.1202G>A (p.Gly401Glu) rs1573879289
NM_000143.4(FH):c.1204C>A (p.His402Asn)
NM_000143.4(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.4(FH):c.1207T>C (p.Phe403Leu)
NM_000143.4(FH):c.1212G>T (p.Glu404Asp)
NM_000143.4(FH):c.1216A>G (p.Asn406Asp) rs876659362
NM_000143.4(FH):c.1217A>G (p.Asn406Ser)
NM_000143.4(FH):c.1218T>A (p.Asn406Lys)
NM_000143.4(FH):c.1224C>G (p.Phe408Leu) rs759548413
NM_000143.4(FH):c.1227G>C (p.Lys409Asn) rs774493741
NM_000143.4(FH):c.1228C>T (p.Pro410Ser) rs2147914837
NM_000143.4(FH):c.1229C>G (p.Pro410Arg) rs1057517735
NM_000143.4(FH):c.1229C>T (p.Pro410Leu) rs1057517735
NM_000143.4(FH):c.122_123del (p.Ala41fs)
NM_000143.4(FH):c.1234A>T (p.Met412Leu)
NM_000143.4(FH):c.1236+4dup
NM_000143.4(FH):c.1236+6C>A
NM_000143.4(FH):c.1236+6C>T
NM_000143.4(FH):c.1236G>A (p.Met412Ile) rs1573879248
NM_000143.4(FH):c.1237-3A>G rs2147913409
NM_000143.4(FH):c.1237-3A>T rs2147913409
NM_000143.4(FH):c.1237-8A>T
NM_000143.4(FH):c.1237A>G (p.Ile413Val)
NM_000143.4(FH):c.1238T>C (p.Ile413Thr)
NM_000143.4(FH):c.1239T>G (p.Ile413Met)
NM_000143.4(FH):c.1240A>G (p.Lys414Glu) rs1573878145
NM_000143.4(FH):c.1241A>G (p.Lys414Arg) rs2147913385
NM_000143.4(FH):c.1243A>C (p.Asn415His) rs1659748903
NM_000143.4(FH):c.1245T>C (p.Asn415=)
NM_000143.4(FH):c.1246G>A (p.Val416Met)
NM_000143.4(FH):c.124G>A (p.Ala42Thr)
NM_000143.4(FH):c.124G>T (p.Ala42Ser) rs2147926832
NM_000143.4(FH):c.1252C>G (p.His418Asp)
NM_000143.4(FH):c.1252C>T (p.His418Tyr)
NM_000143.4(FH):c.1253A>T (p.His418Leu)
NM_000143.4(FH):c.1259C>A (p.Ala420Asp) rs766377516
NM_000143.4(FH):c.125C>T (p.Ala42Val) rs1194980336
NM_000143.4(FH):c.1261A>G (p.Arg421Gly) rs1659748055
NM_000143.4(FH):c.1262G>C (p.Arg421Thr) rs1659747962
NM_000143.4(FH):c.1262G>T (p.Arg421Met) rs1659747962
NM_000143.4(FH):c.1263G>C (p.Arg421Ser) rs777409218
NM_000143.4(FH):c.1263G>T (p.Arg421Ser) rs777409218
NM_000143.4(FH):c.1270G>A (p.Gly424Arg) rs1553340705
NM_000143.4(FH):c.1277C>A (p.Ala426Asp) rs1553340703
NM_000143.4(FH):c.1280C>T (p.Ser427Leu) rs1573878095
NM_000143.4(FH):c.1282G>C (p.Val428Leu) rs1558396381
NM_000143.4(FH):c.1285T>C (p.Ser429Pro)
NM_000143.4(FH):c.1286C>G (p.Ser429Cys) rs1558396375
NM_000143.4(FH):c.1289T>A (p.Phe430Tyr)
NM_000143.4(FH):c.128G>T (p.Arg43Leu) rs2147926825
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) rs201005880
NM_000143.4(FH):c.1297A>T (p.Asn433Tyr) rs200121326
NM_000143.4(FH):c.1303G>C (p.Val435Leu)
NM_000143.4(FH):c.1304T>C (p.Val435Ala) rs982483795
NM_000143.4(FH):c.1306G>A (p.Val436Met) rs1324526971
NM_000143.4(FH):c.1306G>T (p.Val436Leu) rs1324526971
NM_000143.4(FH):c.1309G>C (p.Gly437Arg)
NM_000143.4(FH):c.1318G>A (p.Ala440Thr)
NM_000143.4(FH):c.132+5G>A rs1060499627
NM_000143.4(FH):c.1322A>G (p.Asn441Ser) rs1357584529
NM_000143.4(FH):c.1323T>A (p.Asn441Lys) rs945101483
NM_000143.4(FH):c.1324A>G (p.Thr442Ala) rs771503401
NM_000143.4(FH):c.1325C>G (p.Thr442Arg) rs1060500899
NM_000143.4(FH):c.1325C>T (p.Thr442Ile)
NM_000143.4(FH):c.133-3T>G
NM_000143.4(FH):c.1337A>G (p.Asn446Ser) rs2147913108
NM_000143.4(FH):c.1338C>G (p.Asn446Lys) rs113572177
NM_000143.4(FH):c.1339A>C (p.Lys447Gln)
NM_000143.4(FH):c.133G>T (p.Ala45Ser) rs1260007300
NM_000143.4(FH):c.1340A>G (p.Lys447Arg) rs756326120
NM_000143.4(FH):c.1347G>A (p.Met449Ile) rs376502356
NM_000143.4(FH):c.1348A>G (p.Asn450Asp) rs1659742832
NM_000143.4(FH):c.1352A>G (p.Glu451Gly)
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.1361T>C (p.Met454Thr) rs1353763695
NM_000143.4(FH):c.1362G>A (p.Met454Ile) rs766177929
NM_000143.4(FH):c.1366G>C (p.Val456Leu) rs200244096
NM_000143.4(FH):c.1378A>G (p.Asn460Asp)
NM_000143.4(FH):c.1379A>G (p.Asn460Ser) rs767253363
NM_000143.4(FH):c.1382C>T (p.Pro461Leu)
NM_000143.4(FH):c.1384C>T (p.His462Tyr) rs201625211
NM_000143.4(FH):c.1385A>G (p.His462Arg) rs1466657268
NM_000143.4(FH):c.1389A>G (p.Ile463Met) rs876659472
NM_000143.4(FH):c.1390+2T>C rs1558396285
NM_000143.4(FH):c.1390+3A>G
NM_000143.4(FH):c.1390+3_1390+6del
NM_000143.4(FH):c.1390+4A>T rs2147913003
NM_000143.4(FH):c.1390+4dup
NM_000143.4(FH):c.1390+5G>A rs1352808353
NM_000143.4(FH):c.1390+6T>C rs1338650106
NM_000143.4(FH):c.1391-12T>G
NM_000143.4(FH):c.1391-3C>T
NM_000143.4(FH):c.1391G>T (p.Gly464Val) rs1131691250
NM_000143.4(FH):c.1392G>T (p.Gly464=)
NM_000143.4(FH):c.1398C>G (p.Asp466Glu) rs1558395525
NM_000143.4(FH):c.1399A>G (p.Lys467Glu) rs2147911350
NM_000143.4(FH):c.13C>G (p.Leu5Val) rs1553342165
NM_000143.4(FH):c.1403C>T (p.Ala468Val)
NM_000143.4(FH):c.1411A>G (p.Ile471Val)
NM_000143.4(FH):c.1411A>T (p.Ile471Phe) rs1659667519
NM_000143.4(FH):c.1414G>A (p.Ala472Thr)
NM_000143.4(FH):c.1415C>A (p.Ala472Asp) rs765643179
NM_000143.4(FH):c.1415C>T (p.Ala472Val) rs765643179
NM_000143.4(FH):c.1421C>T (p.Thr474Ile) rs369802820
NM_000143.4(FH):c.1427A>G (p.His476Arg) rs1202960869
NM_000143.4(FH):c.1429A>G (p.Lys477Glu) rs547519260
NM_000143.4(FH):c.1430A>C (p.Lys477Thr) rs761934894
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1434T>A (p.Asn478Lys) rs786202199
NM_000143.4(FH):c.1439C>T (p.Ser480Leu) rs1131691245
NM_000143.4(FH):c.143A>T (p.Asn48Ile) rs1660246440
NM_000143.4(FH):c.1450G>A (p.Glu484Lys)
NM_000143.4(FH):c.1456_1458del (p.Ala486del) rs2147911262
NM_000143.4(FH):c.1459A>G (p.Ile487Val) rs1391195810
NM_000143.4(FH):c.1460T>G (p.Ile487Ser)
NM_000143.4(FH):c.1463A>T (p.Glu488Val)
NM_000143.4(FH):c.1468G>C (p.Gly490Arg) rs1553340515
NM_000143.4(FH):c.1474C>G (p.Leu492Val) rs1659663430
NM_000143.4(FH):c.1478C>A (p.Thr493Lys) rs1558395446
NM_000143.4(FH):c.1480G>C (p.Ala494Pro) rs1553340508
NM_000143.4(FH):c.1481C>A (p.Ala494Glu)
NM_000143.4(FH):c.1481C>G (p.Ala494Gly) rs752369363
NM_000143.4(FH):c.1481C>T (p.Ala494Val) rs752369363
NM_000143.4(FH):c.1484A>G (p.Glu495Gly) rs2147911220
NM_000143.4(FH):c.1489T>C (p.Phe497Leu) rs2147911216
NM_000143.4(FH):c.148T>C (p.Phe50Leu) rs1558402284
NM_000143.4(FH):c.1493A>G (p.Asp498Gly)
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.1504A>G (p.Lys502Glu)
NM_000143.4(FH):c.1506dup (p.Pro503fs) rs886041202
NM_000143.4(FH):c.1508C>G (p.Pro503Arg) rs1659661748
NM_000143.4(FH):c.1508_1509insCAAACC (p.Pro503_Lys504dup) rs1060500895
NM_000143.4(FH):c.1516A>G (p.Met506Val) rs762413315
NM_000143.4(FH):c.1518G>A (p.Met506Ile) rs2147911190
NM_000143.4(FH):c.1518G>T (p.Met506Ile)
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.1522G>C (p.Gly508Arg) rs1659661545
NM_000143.4(FH):c.1522G>T (p.Gly508Cys) rs1659661545
NM_000143.4(FH):c.1523G>A (p.Gly508Asp)
NM_000143.4(FH):c.1528A>C (p.Lys510Gln) rs2147911176
NM_000143.4(FH):c.1528A>G (p.Lys510Glu)
NM_000143.4(FH):c.1529A>G (p.Lys510Arg) rs2147911174
NM_000143.4(FH):c.1532G>C (p.Ter511Ser) rs2147911168
NM_000143.4(FH):c.154A>G (p.Ile52Val) rs543844061
NM_000143.4(FH):c.157G>A (p.Glu53Lys) rs863224013
NM_000143.4(FH):c.163G>T (p.Asp55Tyr)
NM_000143.4(FH):c.164A>G (p.Asp55Gly) rs1660245400
NM_000143.4(FH):c.166A>G (p.Thr56Ala) rs1232573732
NM_000143.4(FH):c.167C>A (p.Thr56Asn) rs1433872618
NM_000143.4(FH):c.167C>T (p.Thr56Ile) rs1433872618
NM_000143.4(FH):c.16C>T (p.Arg6Trp) rs1660324018
NM_000143.4(FH):c.170T>C (p.Phe57Ser) rs759884607
NM_000143.4(FH):c.172G>A (p.Gly58Ser) rs11545659
NM_000143.4(FH):c.17G>A (p.Arg6Gln)
NM_000143.4(FH):c.17G>C (p.Arg6Pro)
NM_000143.4(FH):c.183G>C (p.Lys61Asn) rs766840026
NM_000143.4(FH):c.187C>A (p.Pro63Thr) rs1573888488
NM_000143.4(FH):c.187C>T (p.Pro63Ser) rs1573888488
NM_000143.4(FH):c.193G>T (p.Asp65Tyr) rs769956664
NM_000143.4(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.4(FH):c.206G>A (p.Gly69Asp) rs1660243078
NM_000143.4(FH):c.209C>T (p.Ala70Val) rs1573888433
NM_000143.4(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.4(FH):c.215C>A (p.Thr72Asn) rs2147925174
NM_000143.4(FH):c.221G>C (p.Arg74Thr)
NM_000143.4(FH):c.226A>G (p.Thr76Ala)
NM_000143.4(FH):c.229A>G (p.Met77Val)
NM_000143.4(FH):c.22C>G (p.Leu8Val) rs1660323820
NM_000143.4(FH):c.22C>T (p.Leu8Phe)
NM_000143.4(FH):c.232A>C (p.Asn78His) rs1558402209
NM_000143.4(FH):c.233A>G (p.Asn78Ser)
NM_000143.4(FH):c.234C>A (p.Asn78Lys) rs993218685
NM_000143.4(FH):c.239A>C (p.Lys80Thr) rs1660241142
NM_000143.4(FH):c.240G>C (p.Lys80Asn) rs1573888362
NM_000143.4(FH):c.243T>G (p.Ile81Met)
NM_000143.4(FH):c.245G>A (p.Gly82Glu) rs1558402197
NM_000143.4(FH):c.248G>A (p.Gly83Asp)
NM_000143.4(FH):c.251T>C (p.Val84Ala) rs878853692
NM_000143.4(FH):c.254C>A (p.Thr85Lys)
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.262A>C (p.Met88Leu) rs1660240175
NM_000143.4(FH):c.264G>C (p.Met88Ile) rs2147925082
NM_000143.4(FH):c.265C>T (p.Pro89Ser)
NM_000143.4(FH):c.267+3_267+4del
NM_000143.4(FH):c.267+4A>C
NM_000143.4(FH):c.267A>C (p.Pro89=) rs1060500897
NM_000143.4(FH):c.268-21_268-8del rs2147923124
NM_000143.4(FH):c.269C>T (p.Thr90Ile) rs1401508226
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup) rs1395036789
NM_000143.4(FH):c.272C>T (p.Pro91Leu) rs1455612736
NM_000143.4(FH):c.274G>T (p.Val92Phe)
NM_000143.4(FH):c.278T>C (p.Ile93Thr) rs1660148233
NM_000143.4(FH):c.284C>T (p.Ala95Val) rs1660148115
NM_000143.4(FH):c.289G>A (p.Gly97Ser)
NM_000143.4(FH):c.289G>C (p.Gly97Arg) rs1660147877
NM_000143.4(FH):c.299A>T (p.Lys100Met)
NM_000143.4(FH):c.307G>A (p.Ala103Thr)
NM_000143.4(FH):c.308C>T (p.Ala103Val) rs1256116208
NM_000143.4(FH):c.310G>A (p.Ala104Thr) rs1303488878
NM_000143.4(FH):c.326A>T (p.Asp109Val) rs1573886432
NM_000143.4(FH):c.32C>G (p.Ser11Trp)
NM_000143.4(FH):c.32C>T (p.Ser11Leu) rs1226883651
NM_000143.4(FH):c.335T>C (p.Leu112Pro)
NM_000143.4(FH):c.338A>G (p.Asp113Gly)
NM_000143.4(FH):c.339T>A (p.Asp113Glu) rs1029743950
NM_000143.4(FH):c.34C>A (p.Arg12Ser) rs199912971
NM_000143.4(FH):c.34C>G (p.Arg12Gly) rs199912971
NM_000143.4(FH):c.354T>G (p.Asn118Lys) rs1465574376
NM_000143.4(FH):c.355G>A (p.Ala119Thr)
NM_000143.4(FH):c.355_356delinsTT (p.Ala119Leu)
NM_000143.4(FH):c.356C>A (p.Ala119Glu)
NM_000143.4(FH):c.356C>T (p.Ala119Val) rs1395827785
NM_000143.4(FH):c.358A>C (p.Ile120Leu) rs199641124
NM_000143.4(FH):c.35G>A (p.Arg12His) rs367826177
NM_000143.4(FH):c.361A>G (p.Met121Val)
NM_000143.4(FH):c.363G>C (p.Met121Ile)
NM_000143.4(FH):c.370G>A (p.Ala124Thr) rs1660143983
NM_000143.4(FH):c.370G>C (p.Ala124Pro) rs1660143983
NM_000143.4(FH):c.373G>C (p.Asp125His) rs2147922936
NM_000143.4(FH):c.378+4G>A rs2147922924
NM_000143.4(FH):c.378+5G>A rs1660143514
NM_000143.4(FH):c.379G>A (p.Val127Ile)
NM_000143.4(FH):c.379G>T (p.Val127Leu) rs878853693
NM_000143.4(FH):c.37C>G (p.Pro13Ala) rs587778360
NM_000143.4(FH):c.37C>T (p.Pro13Ser) rs587778360
NM_000143.4(FH):c.382G>A (p.Ala128Thr) rs1553341620
NM_000143.4(FH):c.383C>T (p.Ala128Val)
NM_000143.4(FH):c.389G>A (p.Gly130Asp)
NM_000143.4(FH):c.393A>T (p.Lys131Asn) rs2147922022
NM_000143.4(FH):c.403C>T (p.His135Tyr) rs1553341617
NM_000143.4(FH):c.404A>C (p.His135Pro) rs786202833
NM_000143.4(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.4(FH):c.409C>T (p.Pro137Ser)
NM_000143.4(FH):c.40C>G (p.Leu14Val)
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.4(FH):c.410C>G (p.Pro137Arg) rs1660101853
NM_000143.4(FH):c.410C>T (p.Pro137Leu) rs1660101853
NM_000143.4(FH):c.411T>A (p.Pro137=)
NM_000143.4(FH):c.415G>C (p.Val139Leu) rs200343823
NM_000143.4(FH):c.416T>G (p.Val139Gly) rs1573885528
NM_000143.4(FH):c.418G>C (p.Val140Leu) rs746195750
NM_000143.4(FH):c.431G>T (p.Gly144Val) rs1057521425
NM_000143.4(FH):c.434C>T (p.Ser145Leu) rs1573885482
NM_000143.4(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.4(FH):c.438A>T (p.Gly146=) rs2147921924
NM_000143.4(FH):c.43G>A (p.Val15Met)
NM_000143.4(FH):c.43G>C (p.Val15Leu)
NM_000143.4(FH):c.446C>A (p.Thr149Lys)
NM_000143.4(FH):c.448A>C (p.Asn150His) rs1660099527
NM_000143.4(FH):c.44T>C (p.Val15Ala) rs1660322018
NM_000143.4(FH):c.452T>A (p.Met151Lys) rs1660099266
NM_000143.4(FH):c.463G>A (p.Glu155Lys)
NM_000143.4(FH):c.464A>T (p.Glu155Val) rs863224014
NM_000143.4(FH):c.469A>G (p.Ile157Val) rs778399986
NM_000143.4(FH):c.470T>C (p.Ile157Thr) rs2147921876
NM_000143.4(FH):c.473G>A (p.Ser158Asn) rs1060500902
NM_000143.4(FH):c.473_474delinsAA (p.Ser158Lys)
NM_000143.4(FH):c.47G>A (p.Arg16Gln)
NM_000143.4(FH):c.481G>A (p.Ala161Thr) rs1573885421
NM_000143.4(FH):c.481G>C (p.Ala161Pro)
NM_000143.4(FH):c.482C>T (p.Ala161Val) rs1307815197
NM_000143.4(FH):c.484A>G (p.Ile162Val) rs2147921864
NM_000143.4(FH):c.488A>G (p.Glu163Gly)
NM_000143.4(FH):c.48G>A (p.Arg16=) rs1468361143
NM_000143.4(FH):c.490A>G (p.Met164Val) rs1660097952
NM_000143.4(FH):c.491T>G (p.Met164Arg)
NM_000143.4(FH):c.495AGG[1] (p.Gly167del) rs1660097679
NM_000143.4(FH):c.496G>A (p.Gly166Arg) rs1660097824
NM_000143.4(FH):c.497G>A (p.Gly166Glu) rs746612719
NM_000143.4(FH):c.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.502G>C (p.Glu168Gln) rs1573885382
NM_000143.4(FH):c.503A>T (p.Glu168Val)
NM_000143.4(FH):c.509G>A (p.Gly170Asp) rs1573885360
NM_000143.4(FH):c.512G>A (p.Ser171Asn) rs1157774951
NM_000143.4(FH):c.513C>G (p.Ser171Arg) rs1660097007
NM_000143.4(FH):c.515A>G (p.Lys172Arg) rs2147921824
NM_000143.4(FH):c.517A>T (p.Ile173Leu) rs1558400504
NM_000143.4(FH):c.526C>G (p.His176Asp)
NM_000143.4(FH):c.526C>T (p.His176Tyr)
NM_000143.4(FH):c.527A>T (p.His176Leu) rs1158759883
NM_000143.4(FH):c.52C>G (p.Pro18Ala) rs1660321288
NM_000143.4(FH):c.533A>G (p.Asn178Ser) rs2147921789
NM_000143.4(FH):c.534C>A (p.Asn178Lys) rs375878939
NM_000143.4(FH):c.535G>A (p.Asp179Asn) rs1553341588
NM_000143.4(FH):c.535G>T (p.Asp179Tyr) rs1553341588
NM_000143.4(FH):c.536A>G (p.Asp179Gly) rs2147921775
NM_000143.4(FH):c.538C>T (p.His180Tyr)
NM_000143.4(FH):c.541G>A (p.Val181Ile)
NM_000143.4(FH):c.545A>G (p.Asn182Ser) rs1558400468
NM_000143.4(FH):c.547A>G (p.Lys183Glu) rs2147921763
NM_000143.4(FH):c.551G>C (p.Ser184Thr) rs750316531
NM_000143.4(FH):c.552C>G (p.Ser184Arg) rs377660762
NM_000143.4(FH):c.555+3C>A rs1660094654
NM_000143.4(FH):c.555+3del rs1553341583
NM_000143.4(FH):c.555+4A>G rs776240700
NM_000143.4(FH):c.555+5G>T
NM_000143.4(FH):c.555+7_555+8delinsTA
NM_000143.4(FH):c.555G>T (p.Gln185His) rs1660094798
NM_000143.4(FH):c.55G>A (p.Ala19Thr)
NM_000143.4(FH):c.568A>G (p.Thr190Ala)
NM_000143.4(FH):c.569C>T (p.Thr190Ile) rs2147919703
NM_000143.4(FH):c.570T>A (p.Thr190=)
NM_000143.4(FH):c.576C>G (p.Pro192=) rs1413797947
NM_000143.4(FH):c.577A>G (p.Thr193Ala) rs2147919685
NM_000143.4(FH):c.57C>A (p.Ala19=) rs1469317078
NM_000143.4(FH):c.580G>T (p.Ala194Ser) rs587782215
NM_000143.4(FH):c.581C>A (p.Ala194Glu) rs1558399442
NM_000143.4(FH):c.586C>T (p.His196Tyr) rs1553341363
NM_000143.4(FH):c.589A>C (p.Ile197Leu) rs201764931
NM_000143.4(FH):c.58G>C (p.Ala20Pro)
NM_000143.4(FH):c.58G>T (p.Ala20Ser)
NM_000143.4(FH):c.591TGC[2] (p.Ala200del) rs786202907
NM_000143.4(FH):c.593C>G (p.Ala198Gly) rs1414507017
NM_000143.4(FH):c.598G>A (p.Ala200Thr)
NM_000143.4(FH):c.599C>T (p.Ala200Val) rs1659997677
NM_000143.4(FH):c.59C>G (p.Ala20Gly)
NM_000143.4(FH):c.59C>T (p.Ala20Val) rs1573889953
NM_000143.4(FH):c.601A>G (p.Ile201Val) rs1659997422
NM_000143.4(FH):c.602T>C (p.Ile201Thr) rs1476664795
NM_000143.4(FH):c.603A>G (p.Ile201Met) rs2147919643
NM_000143.4(FH):c.604G>A (p.Glu202Lys)
NM_000143.4(FH):c.607G>A (p.Val203Ile)
NM_000143.4(FH):c.607G>T (p.Val203Phe)
NM_000143.4(FH):c.608T>G (p.Val203Gly) rs200796921
NM_000143.4(FH):c.610C>A (p.His204Asn) rs863223996
NM_000143.4(FH):c.611A>G (p.His204Arg) rs1060500898
NM_000143.4(FH):c.612T>A (p.His204Gln) rs1424868653
NM_000143.4(FH):c.612T>G (p.His204Gln) rs1424868653
NM_000143.4(FH):c.616G>T (p.Val206Leu) rs763183520
NM_000143.4(FH):c.61G>C (p.Ala21Pro)
NM_000143.4(FH):c.620T>C (p.Leu207Pro) rs1060500894
NM_000143.4(FH):c.622T>G (p.Leu208Val)
NM_000143.4(FH):c.623T>C (p.Leu208Ser)
NM_000143.4(FH):c.62C>A (p.Ala21Asp)
NM_000143.4(FH):c.62C>T (p.Ala21Val) rs1131691251
NM_000143.4(FH):c.634C>G (p.Gln212Glu) rs1553341353
NM_000143.4(FH):c.636G>C (p.Gln212His) rs1270956851
NM_000143.4(FH):c.637A>G (p.Lys213Glu)
NM_000143.4(FH):c.638A>G (p.Lys213Arg) rs1659995341
NM_000143.4(FH):c.644A>G (p.His215Arg)
NM_000143.4(FH):c.644A>T (p.His215Leu) rs770141324
NM_000143.4(FH):c.647A>C (p.Asp216Ala)
NM_000143.4(FH):c.647A>T (p.Asp216Val) rs1553341348
NM_000143.4(FH):c.648T>G (p.Asp216Glu) rs199536615
NM_000143.4(FH):c.649G>T (p.Ala217Ser)
NM_000143.4(FH):c.650C>T (p.Ala217Val)
NM_000143.4(FH):c.657T>G (p.Asp219Glu) rs995196012
NM_000143.4(FH):c.658_659delinsTT (p.Ala220Leu) rs1060500893
NM_000143.4(FH):c.659C>G (p.Ala220Gly) rs758678272
NM_000143.4(FH):c.65T>A (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.65T>C (p.Leu22Ser) rs1031919395
NM_000143.4(FH):c.661A>G (p.Lys221Glu)
NM_000143.4(FH):c.662A>T (p.Lys221Ile) rs2147919540
NM_000143.4(FH):c.667A>G (p.Lys223Glu)
NM_000143.4(FH):c.668A>C (p.Lys223Thr) rs1064795294
NM_000143.4(FH):c.668A>G (p.Lys223Arg) rs1064795294
NM_000143.4(FH):c.668A>T (p.Lys223Ile) rs1064795294
NM_000143.4(FH):c.66A>C (p.Leu22Phe)
NM_000143.4(FH):c.672G>C (p.Glu224Asp)
NM_000143.4(FH):c.674T>C (p.Phe225Ser) rs149651434
NM_000143.4(FH):c.675T>A (p.Phe225Leu) rs1270246282
NM_000143.4(FH):c.677C>A (p.Ala226Glu) rs778786425
NM_000143.4(FH):c.677C>T (p.Ala226Val)
NM_000143.4(FH):c.67G>A (p.Ala23Thr) rs1573889943
NM_000143.4(FH):c.680A>G (p.Gln227Arg)
NM_000143.4(FH):c.683T>C (p.Ile228Thr) rs753773918
NM_000143.4(FH):c.687C>G (p.Ile229Met) rs755587163
NM_000143.4(FH):c.68C>T (p.Ala23Val) rs2147926968
NM_000143.4(FH):c.691A>C (p.Ile231Leu) rs1659991322
NM_000143.4(FH):c.691A>G (p.Ile231Val) rs1659991322
NM_000143.4(FH):c.692T>C (p.Ile231Thr) rs1335587342
NM_000143.4(FH):c.706A>G (p.Thr236Ala) rs1064793126
NM_000143.4(FH):c.707C>T (p.Thr236Ile) rs773382103
NM_000143.4(FH):c.70T>A (p.Ser24Thr)
NM_000143.4(FH):c.710A>G (p.Gln237Arg)
NM_000143.4(FH):c.718G>C (p.Val240Leu) rs1291740270
NM_000143.4(FH):c.718G>T (p.Val240Phe)
NM_000143.4(FH):c.721C>G (p.Pro241Ala) rs1349419396
NM_000143.4(FH):c.722C>T (p.Pro241Leu) rs1553341319
NM_000143.4(FH):c.730C>T (p.Leu244Phe)
NM_000143.4(FH):c.731T>C (p.Leu244Pro) rs1060499636
NM_000143.4(FH):c.733G>A (p.Gly245Arg) rs1287444534
NM_000143.4(FH):c.738+5A>G rs1258289679
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.73G>C (p.Ala25Pro)
NM_000143.4(FH):c.747T>A (p.Ser249Arg)
NM_000143.4(FH):c.748G>C (p.Gly250Arg) rs2147917765
NM_000143.4(FH):c.749G>C (p.Gly250Ala)
NM_000143.4(FH):c.749G>T (p.Gly250Val) rs951611697
NM_000143.4(FH):c.74C>T (p.Ala25Val) rs1573889933
NM_000143.4(FH):c.754G>A (p.Val252Ile) rs1353871297
NM_000143.4(FH):c.763G>T (p.Val255Leu)
NM_000143.4(FH):c.767A>C (p.Lys256Thr) rs978988174
NM_000143.4(FH):c.767A>G (p.Lys256Arg)
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.4(FH):c.775A>C (p.Met259Leu) rs1343775223
NM_000143.4(FH):c.777G>A (p.Met259Ile) rs1044975651
NM_000143.4(FH):c.777_779del (p.Met259_Thr260delinsIle)
NM_000143.4(FH):c.779C>G (p.Thr260Arg) rs1659924700
NM_000143.4(FH):c.784A>C (p.Ile262Leu) rs199829765
NM_000143.4(FH):c.785T>G (p.Ile262Arg) rs786203177
NM_000143.4(FH):c.790G>C (p.Ala264Pro)
NM_000143.4(FH):c.791C>G (p.Ala264Gly)
NM_000143.4(FH):c.791C>T (p.Ala264Val)
NM_000143.4(FH):c.793G>C (p.Ala265Pro)
NM_000143.4(FH):c.793G>T (p.Ala265Ser)
NM_000143.4(FH):c.796A>G (p.Met266Val)
NM_000143.4(FH):c.796A>T (p.Met266Leu)
NM_000143.4(FH):c.802A>G (p.Arg268Gly) rs2147917678
NM_000143.4(FH):c.803G>T (p.Arg268Ile) rs1659923371
NM_000143.4(FH):c.807C>G (p.Ile269Met)
NM_000143.4(FH):c.808T>C (p.Tyr270His)
NM_000143.4(FH):c.814C>A (p.Leu272Ile) rs779019570
NM_000143.4(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.4(FH):c.838G>A (p.Gly280Ser) rs1659921742
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.83T>G (p.Leu28Trp)
NM_000143.4(FH):c.842C>T (p.Thr281Ile) rs1573881633
NM_000143.4(FH):c.848T>C (p.Leu283Ser) rs1659921346
NM_000143.4(FH):c.84_85delinsTT (p.Leu28_Gly29delinsPheCys)
NM_000143.4(FH):c.850A>G (p.Asn284Asp)
NM_000143.4(FH):c.853A>T (p.Thr285Ser) rs200791185
NM_000143.4(FH):c.856A>G (p.Arg286Gly)
NM_000143.4(FH):c.860T>C (p.Ile287Thr)
NM_000143.4(FH):c.866T>C (p.Phe289Ser)
NM_000143.4(FH):c.872A>G (p.Glu291Gly) rs2147917541
NM_000143.4(FH):c.874A>C (p.Lys292Gln) rs771087739
NM_000143.4(FH):c.874A>G (p.Lys292Glu)
NM_000143.4(FH):c.876G>T (p.Lys292Asn) rs2147917537
NM_000143.4(FH):c.877G>A (p.Val293Ile) rs749029092
NM_000143.4(FH):c.87_89del (p.Gly30del) rs752879506
NM_000143.4(FH):c.880G>A (p.Ala294Thr) rs1659920259
NM_000143.4(FH):c.886A>G (p.Lys296Glu)
NM_000143.4(FH):c.887A>G (p.Lys296Arg) rs933479705
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.893C>G (p.Ala298Gly) rs1573881563
NM_000143.4(FH):c.896C>T (p.Ala299Val) rs2147917505
NM_000143.4(FH):c.89G>A (p.Gly30Asp)
NM_000143.4(FH):c.8G>A (p.Arg3Gln)
NM_000143.4(FH):c.8G>C (p.Arg3Pro) rs1573890051
NM_000143.4(FH):c.901A>G (p.Thr301Ala) rs1659918863
NM_000143.4(FH):c.901A>T (p.Thr301Ser)
NM_000143.4(FH):c.904+2dup rs1573881536
NM_000143.4(FH):c.904+5G>A
NM_000143.4(FH):c.904G>A (p.Gly302Ser) rs200412958
NM_000143.4(FH):c.904G>C (p.Gly302Arg)
NM_000143.4(FH):c.905-14_905-12del
NM_000143.4(FH):c.905-3_905-2insATTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_000143.4(FH):c.905G>A (p.Gly302Asp) rs1162334354
NM_000143.4(FH):c.905G>C (p.Gly302Ala)
NM_000143.4(FH):c.907T>G (p.Leu303Val) rs1057523697
NM_000143.4(FH):c.910C>G (p.Pro304Ala)
NM_000143.4(FH):c.910C>T (p.Pro304Ser) rs1659857790
NM_000143.4(FH):c.911C>G (p.Pro304Arg) rs200491078
NM_000143.4(FH):c.916G>A (p.Val306Ile) rs1659857390
NM_000143.4(FH):c.92C>A (p.Ala31Glu) rs876659347
NM_000143.4(FH):c.92C>T (p.Ala31Val) rs876659347
NM_000143.4(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.4(FH):c.940G>A (p.Ala314Thr)
NM_000143.4(FH):c.941C>G (p.Ala314Gly) rs1659856002
NM_000143.4(FH):c.943C>G (p.Leu315Val) rs1573880536
NM_000143.4(FH):c.94G>A (p.Ala32Thr) rs1371664717
NM_000143.4(FH):c.94G>C (p.Ala32Pro)
NM_000143.4(FH):c.94G>T (p.Ala32Ser) rs1371664717
NM_000143.4(FH):c.955G>A (p.Asp319Asn)
NM_000143.4(FH):c.956A>G (p.Asp319Gly) rs1659855240
NM_000143.4(FH):c.956A>T (p.Asp319Val)
NM_000143.4(FH):c.958G>A (p.Ala320Thr)
NM_000143.4(FH):c.958G>C (p.Ala320Pro)
NM_000143.4(FH):c.958G>T (p.Ala320Ser) rs766441385
NM_000143.4(FH):c.95C>G (p.Ala32Gly) rs2147926910
NM_000143.4(FH):c.95C>T (p.Ala32Val) rs2147926910
NM_000143.4(FH):c.973A>G (p.Ser325Gly)
NM_000143.4(FH):c.973A>T (p.Ser325Cys) rs201124581
NM_000143.4(FH):c.974G>A (p.Ser325Asn) rs1423324601
NM_000143.4(FH):c.976G>A (p.Gly326Arg) rs1553341038
NM_000143.4(FH):c.979G>A (p.Ala327Thr) rs1333344957
NM_000143.4(FH):c.980C>T (p.Ala327Val) rs1659854224
NM_000143.4(FH):c.982A>C (p.Met328Leu)
NM_000143.4(FH):c.982A>G (p.Met328Val) rs146816517
NM_000143.4(FH):c.983T>C (p.Met328Thr)
NM_000143.4(FH):c.983T>G (p.Met328Arg) rs2147916225
NM_000143.4(FH):c.985A>C (p.Asn329His)
NM_000143.4(FH):c.988A>G (p.Thr330Ala) rs776313200
NM_000143.4(FH):c.989C>G (p.Thr330Ser) rs200028270
NM_000143.4(FH):c.989C>T (p.Thr330Ile) rs200028270
NM_000143.4(FH):c.991A>G (p.Thr331Ala) rs1459131048
NM_000143.4(FH):c.995C>T (p.Ala332Val)
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) rs1553341032

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