ClinVar Miner

List of variants in gene FH studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1580
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1108+98C>A rs4659607 0.73671
NM_000143.4(FH):c.738+265G>A rs11802956 0.40494
NM_000143.4(FH):c.378+145G>A rs10926500 0.40329
NM_000143.4(FH):c.1236+233T>C rs2185626 0.37539
NM_000143.4(FH):c.555+148C>G rs6673988 0.34066
NM_000143.4(FH):c.1108+109G>A rs4660099 0.27390
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_000143.4(FH):c.1390+261T>C rs4660098 0.02455
NM_000143.4(FH):c.904+54G>A rs12065955 0.02443
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_000143.4(FH):c.268-22A>T rs2275162 0.02420
NM_000143.4(FH):c.1390+276G>A rs75440584 0.02130
NM_000143.4(FH):c.132+71C>A rs111416913 0.02084
NM_000143.4(FH):c.556-281A>T rs116996841 0.01939
NM_000143.4(FH):c.*221_*222del rs112946286 0.01684
NM_000143.4(FH):c.904+47G>A rs145209119 0.01502
NM_000143.4(FH):c.267+235C>T rs143551540 0.01112
NM_000143.4(FH):c.1108+261C>T rs4659606 0.00899
NM_000143.3(FH):c.-116G>A rs529496738 0.00597
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NC_000001.11:g.241497425T>C rs184475958 0.00595
NC_000001.11:g.241497360C>T rs74674708 0.00555
NM_000143.4(FH):c.1391-158A>T rs116598415 0.00486
NM_000143.4(FH):c.1236+292T>C rs150089431 0.00485
NM_000143.4(FH):c.379-214A>G rs137857651 0.00412
NM_000143.4(FH):c.1391-285A>G rs11809211 0.00397
NM_000143.4(FH):c.739-240G>A rs191906371 0.00321
NM_000143.4(FH):c.267+241C>T rs111470473 0.00279
NM_000143.4(FH):c.555+206A>G rs778970769 0.00211
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_000143.4(FH):c.1237-18T>A rs202206776 0.00128
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000143.4(FH):c.105G>A (p.Ser35=) rs181655698 0.00066
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NM_000143.4(FH):c.1299C>T (p.Asn433=) rs201994824 0.00047
NM_000143.4(FH):c.306G>A (p.Ala102=) rs142283468 0.00032
NM_000143.4(FH):c.4T>C (p.Tyr2His) rs112335468 0.00023
NM_000143.4(FH):c.50C>T (p.Ala17Val) rs111548093 0.00023
NM_000143.4(FH):c.1237-7C>T rs376260223 0.00022
NM_000143.4(FH):c.7C>G (p.Arg3Gly) rs202166344 0.00022
NM_000143.4(FH):c.1303G>A (p.Val435Met) rs147528200 0.00021
NM_000143.4(FH):c.1237-12A>T rs74405673 0.00019
NM_000143.4(FH):c.883G>A (p.Ala295Thr) rs145843819 0.00018
NM_000143.4(FH):c.122C>T (p.Ala41Val) rs201486221 0.00014
NM_000143.4(FH):c.739-10T>C rs201971572 0.00013
NM_000143.4(FH):c.379-15A>T rs374529177 0.00012
NM_000143.4(FH):c.132+20C>T rs768086355 0.00011
NM_000143.4(FH):c.6C>T (p.Tyr2=) rs199971078 0.00011
NM_000143.4(FH):c.217G>A (p.Val73Met) rs201878591 0.00010
NM_000143.4(FH):c.33G>C (p.Ser11=) rs200542051 0.00010
NM_000143.4(FH):c.-10C>T rs998842505 0.00006
NM_000143.4(FH):c.120C>G (p.Asn40Lys) rs876658186 0.00006
NM_000143.4(FH):c.12A>G (p.Ala4=) rs201277370 0.00006
NM_000143.4(FH):c.259C>T (p.Arg87Cys) rs139642944 0.00006
NM_000143.4(FH):c.35G>T (p.Arg12Leu) rs367826177 0.00006
NM_000143.4(FH):c.552C>T (p.Ser184=) rs377660762 0.00006
NM_000143.4(FH):c.759A>G (p.Gln253=) rs147518314 0.00006
NM_000143.4(FH):c.957C>T (p.Asp319=) rs146751488 0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000143.4(FH):c.1314C>T (p.Ile438=) rs140873869 0.00005
NM_000143.4(FH):c.399T>C (p.Asn133=) rs376056309 0.00005
NM_000143.4(FH):c.63C>T (p.Ala21=) rs555404867 0.00005
NM_000143.4(FH):c.738+19T>C rs200220212 0.00005
NM_000143.4(FH):c.809A>G (p.Tyr270Cys) rs202060616 0.00005
NM_000143.4(FH):c.994G>A (p.Ala332Thr) rs1157768121 0.00005
NM_000143.4(FH):c.-3A>G rs202145941 0.00004
NM_000143.4(FH):c.1077T>A (p.Pro359=) rs750535216 0.00004
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.1482A>G (p.Ala494=) rs201559643 0.00004
NM_000143.4(FH):c.159A>G (p.Glu53=) rs202056884 0.00004
NM_000143.4(FH):c.302G>A (p.Arg101Gln) rs75086406 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000143.4(FH):c.435A>G (p.Ser145=) rs771373271 0.00004
NM_000143.4(FH):c.540T>C (p.His180=) rs766280573 0.00004
NM_000143.4(FH):c.556-4A>G rs370229813 0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr) rs587782215 0.00004
NM_000143.4(FH):c.917T>C (p.Val306Ala) rs147991516 0.00004
NM_000143.4(FH):c.1462G>A (p.Glu488Lys) rs201115573 0.00003
NM_000143.4(FH):c.207C>T (p.Gly69=) rs370392829 0.00003
NM_000143.4(FH):c.305C>T (p.Ala102Val) rs61753295 0.00003
NM_000143.4(FH):c.312T>C (p.Ala104=) rs1311053776 0.00003
NM_000143.4(FH):c.37C>A (p.Pro13Thr) rs587778360 0.00003
NM_000143.4(FH):c.40C>T (p.Leu14Phe) rs981562354 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.616G>A (p.Val206Ile) rs763183520 0.00003
NM_000143.4(FH):c.685A>G (p.Ile229Val) rs764065194 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000143.4(FH):c.738+14A>G rs765629644 0.00003
NM_000143.4(FH):c.1049G>A (p.Arg350Gln) rs749316923 0.00002
NM_000143.4(FH):c.1138A>G (p.Met380Val) rs587778362 0.00002
NM_000143.4(FH):c.116C>T (p.Pro39Leu) rs1415259326 0.00002
NM_000143.4(FH):c.1283T>C (p.Val428Ala) rs201644919 0.00002
NM_000143.4(FH):c.132+19C>T rs1246848606 0.00002
NM_000143.4(FH):c.1428C>T (p.His476=) rs199887605 0.00002
NM_000143.4(FH):c.260G>A (p.Arg87His) rs200007371 0.00002
NM_000143.4(FH):c.270C>T (p.Thr90=) rs748852152 0.00002
NM_000143.4(FH):c.27G>A (p.Ala9=) rs983362570 0.00002
NM_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000143.4(FH):c.340C>A (p.Pro114Thr) rs199539887 0.00002
NM_000143.4(FH):c.352A>G (p.Asn118Asp) rs200738857 0.00002
NM_000143.4(FH):c.358A>G (p.Ile120Val) rs199641124 0.00002
NM_000143.4(FH):c.451A>T (p.Met151Leu) rs749752047 0.00002
NM_000143.4(FH):c.555+11G>A rs768253079 0.00002
NM_000143.4(FH):c.65T>G (p.Leu22Ter) rs1031919395 0.00002
NM_000143.4(FH):c.664T>A (p.Ser222Thr) rs1448268784 0.00002
NM_000143.4(FH):c.702T>G (p.Thr234=) rs201083387 0.00002
NM_000143.4(FH):c.739-15T>G rs746109501 0.00002
NM_000143.4(FH):c.772G>A (p.Ala258Thr) rs751210164 0.00002
NM_000143.4(FH):c.797T>C (p.Met266Thr) rs764648497 0.00002
NM_000143.4(FH):c.894T>C (p.Ala298=) rs372099505 0.00002
NM_000143.4(FH):c.904+13G>A rs572806212 0.00002
NM_000143.4(FH):c.925C>T (p.Pro309Ser) rs368849989 0.00002
NM_000143.4(FH):c.926C>T (p.Pro309Leu) rs756528378 0.00002
NM_000143.4(FH):c.*5C>T rs777344869 0.00001
NM_000143.4(FH):c.1003C>T (p.Leu335=) rs1203364199 0.00001
NM_000143.4(FH):c.101C>T (p.Pro34Leu) rs1398860901 0.00001
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1028G>A (p.Arg343Gln) rs756990249 0.00001
NM_000143.4(FH):c.1041T>C (p.Ser347=) rs748482867 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.104C>G (p.Ser35Trp) rs942065027 0.00001
NM_000143.4(FH):c.104C>T (p.Ser35Leu) rs942065027 0.00001
NM_000143.4(FH):c.1056T>C (p.Gly352=) rs758440879 0.00001
NM_000143.4(FH):c.1088C>G (p.Pro363Arg) rs1483975363 0.00001
NM_000143.4(FH):c.1108+7A>G rs765397179 0.00001
NM_000143.4(FH):c.1109-7C>T rs1060504079 0.00001
NM_000143.4(FH):c.1128G>T (p.Gln376His) rs1467002768 0.00001
NM_000143.4(FH):c.1167G>A (p.Gly389=) rs778969674 0.00001
NM_000143.4(FH):c.1173T>C (p.His391=) rs199638673 0.00001
NM_000143.4(FH):c.1184C>T (p.Thr395Ile) rs878853690 0.00001
NM_000143.4(FH):c.1188C>T (p.Val396=) rs1202174276 0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg) rs863224007 0.00001
NM_000143.4(FH):c.1195A>G (p.Ser399Gly) rs1372936109 0.00001
NM_000143.4(FH):c.1199A>G (p.Asn400Ser) rs764430466 0.00001
NM_000143.4(FH):c.1204C>T (p.His402Tyr) rs760360724 0.00001
NM_000143.4(FH):c.1227G>A (p.Lys409=) rs774493741 0.00001
NM_000143.4(FH):c.1231A>G (p.Met411Val) rs201381362 0.00001
NM_000143.4(FH):c.1236+5G>A rs374494513 0.00001
NM_000143.4(FH):c.1237-9C>T rs767413280 0.00001
NM_000143.4(FH):c.1254C>T (p.His418=) rs1659748455 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000143.4(FH):c.1259C>T (p.Ala420Val) rs766377516 0.00001
NM_000143.4(FH):c.127C>G (p.Arg43Gly) rs200496951 0.00001
NM_000143.4(FH):c.1291A>G (p.Thr431Ala) rs1315943292 0.00001
NM_000143.4(FH):c.1293A>G (p.Thr431=) rs772800627 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000143.4(FH):c.1308G>A (p.Val436=) rs201535626 0.00001
NM_000143.4(FH):c.132+13C>A rs1415517940 0.00001
NM_000143.4(FH):c.133-3T>C rs1553341989 0.00001
NM_000143.4(FH):c.1338C>T (p.Asn446=) rs113572177 0.00001
NM_000143.4(FH):c.1341G>A (p.Lys447=) rs748363858 0.00001
NM_000143.4(FH):c.1347G>C (p.Met449Ile) rs376502356 0.00001
NM_000143.4(FH):c.1348A>C (p.Asn450His) rs1659742832 0.00001
NM_000143.4(FH):c.1390+6T>A rs1338650106 0.00001
NM_000143.4(FH):c.1391-11T>C rs1659668830 0.00001
NM_000143.4(FH):c.1391-15T>C rs756731681 0.00001
NM_000143.4(FH):c.1391-4T>C rs760376174 0.00001
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys) rs863224010 0.00001
NM_000143.4(FH):c.1401G>A (p.Lys467=) rs1464951563 0.00001
NM_000143.4(FH):c.1405G>A (p.Ala469Thr) rs1060500906 0.00001
NM_000143.4(FH):c.1408A>G (p.Lys470Glu) rs922905323 0.00001
NM_000143.4(FH):c.1426C>T (p.His476Tyr) rs1484545927 0.00001
NM_000143.4(FH):c.1433A>G (p.Asn478Ser) rs201886827 0.00001
NM_000143.4(FH):c.1434T>C (p.Asn478=) rs786202199 0.00001
NM_000143.4(FH):c.1441A>G (p.Thr481Ala) rs1261707355 0.00001
NM_000143.4(FH):c.1443C>G (p.Thr481=) rs780200136 0.00001
NM_000143.4(FH):c.1447A>C (p.Lys483Gln) rs1017406473 0.00001
NM_000143.4(FH):c.1461C>T (p.Ile487=) rs377091029 0.00001
NM_000143.4(FH):c.1470C>T (p.Gly490=) rs137969374 0.00001
NM_000143.4(FH):c.1471T>C (p.Tyr491His) rs749713004 0.00001
NM_000143.4(FH):c.1472A>G (p.Tyr491Cys) rs773801940 0.00001
NM_000143.4(FH):c.1477A>G (p.Thr493Ala) rs777256203 0.00001
NM_000143.4(FH):c.1479A>G (p.Thr493=) rs755633330 0.00001
NM_000143.4(FH):c.1494C>T (p.Asp498=) rs199949526 0.00001
NM_000143.4(FH):c.1501G>A (p.Val501Ile) rs201893992 0.00001
NM_000143.4(FH):c.1503A>G (p.Val501=) rs1553340502 0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.153G>A (p.Arg51=) rs757002779 0.00001
NM_000143.4(FH):c.154A>T (p.Ile52Leu) rs543844061 0.00001
NM_000143.4(FH):c.167C>G (p.Thr56Ser) rs1433872618 0.00001
NM_000143.4(FH):c.178C>T (p.Leu60=) rs201146499 0.00001
NM_000143.4(FH):c.184G>A (p.Val62Met) rs199894369 0.00001
NM_000143.4(FH):c.190A>G (p.Asn64Asp) rs886046319 0.00001
NM_000143.4(FH):c.193G>A (p.Asp65Asn) rs769956664 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val) rs776806414 0.00001
NM_000143.4(FH):c.203A>G (p.Tyr68Cys) rs1472397242 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000143.4(FH):c.210C>T (p.Ala70=) rs1573888428 0.00001
NM_000143.4(FH):c.219G>A (p.Val73=) rs1213056420 0.00001
NM_000143.4(FH):c.222A>T (p.Arg74Ser) rs146739519 0.00001
NM_000143.4(FH):c.227C>T (p.Thr76Met) rs778578307 0.00001
NM_000143.4(FH):c.230T>C (p.Met77Thr) rs1250096728 0.00001
NM_000143.4(FH):c.267+8G>A rs750447887 0.00001
NM_000143.4(FH):c.267A>G (p.Pro89=) rs1060500897 0.00001
NM_000143.4(FH):c.26C>G (p.Ala9Gly) rs766915154 0.00001
NM_000143.4(FH):c.271C>G (p.Pro91Ala) rs1171873052 0.00001
NM_000143.4(FH):c.28C>T (p.Arg10Cys) rs201507555 0.00001
NM_000143.4(FH):c.292A>G (p.Ile98Val) rs1660147766 0.00001
NM_000143.4(FH):c.294C>G (p.Ile98Met) rs1573886484 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000143.4(FH):c.317T>C (p.Val106Ala) rs1382226356 0.00001
NM_000143.4(FH):c.31T>C (p.Ser11Pro) rs1660323255 0.00001
NM_000143.4(FH):c.327T>G (p.Asp109Glu) rs757312078 0.00001
NM_000143.4(FH):c.330T>C (p.Tyr110=) rs753962693 0.00001
NM_000143.4(FH):c.332G>A (p.Gly111Asp) rs764340490 0.00001
NM_000143.4(FH):c.34C>T (p.Arg12Cys) rs199912971 0.00001
NM_000143.4(FH):c.375T>C (p.Asp125=) rs964339220 0.00001
NM_000143.4(FH):c.378+10G>A rs771031726 0.00001
NM_000143.4(FH):c.378+15G>A rs748766342 0.00001
NM_000143.4(FH):c.405T>G (p.His135Gln) rs1298815479 0.00001
NM_000143.4(FH):c.412C>G (p.Leu138Val) rs1466082062 0.00001
NM_000143.4(FH):c.414C>T (p.Leu138=) rs540968725 0.00001
NM_000143.4(FH):c.415G>A (p.Val139Met) rs200343823 0.00001
NM_000143.4(FH):c.417G>A (p.Val139=) rs768341401 0.00001
NM_000143.4(FH):c.41T>C (p.Leu14Pro) rs1553342163 0.00001
NM_000143.4(FH):c.424C>G (p.Gln142Glu) rs1355199594 0.00001
NM_000143.4(FH):c.42C>A (p.Leu14=) rs1660322230 0.00001
NM_000143.4(FH):c.431G>A (p.Gly144Glu) rs1057521425 0.00001
NM_000143.4(FH):c.43G>T (p.Val15Leu) rs1463008959 0.00001
NM_000143.4(FH):c.444G>A (p.Gln148=) rs928534157 0.00001
NM_000143.4(FH):c.456T>C (p.Asn152=) rs876658403 0.00001
NM_000143.4(FH):c.460A>C (p.Asn154His) rs1660099016 0.00001
NM_000143.4(FH):c.468C>A (p.Val156=) rs202061330 0.00001
NM_000143.4(FH):c.46C>T (p.Arg16Trp) rs1324875131 0.00001
NM_000143.4(FH):c.48G>T (p.Arg16=) rs1468361143 0.00001
NM_000143.4(FH):c.492G>C (p.Met164Ile) rs1370195868 0.00001
NM_000143.4(FH):c.49G>C (p.Ala17Pro) rs755886213 0.00001
NM_000143.4(FH):c.514A>G (p.Lys172Glu) rs201154463 0.00001
NM_000143.4(FH):c.534C>T (p.Asn178=) rs375878939 0.00001
NM_000143.4(FH):c.553_554insTG (p.Gln185fs) rs768182640 0.00001
NM_000143.4(FH):c.555+17T>C rs201109559 0.00001
NM_000143.4(FH):c.556-12A>C rs1282569432 0.00001
NM_000143.4(FH):c.556-5A>G rs1060500892 0.00001
NM_000143.4(FH):c.560C>G (p.Ser187Ter) rs398123166 0.00001
NM_000143.4(FH):c.583A>G (p.Met195Val) rs1553341364 0.00001
NM_000143.4(FH):c.589A>G (p.Ile197Val) rs201764931 0.00001
NM_000143.4(FH):c.58G>A (p.Ala20Thr) rs572324497 0.00001
NM_000143.4(FH):c.5A>G (p.Tyr2Cys) rs1553342167 0.00001
NM_000143.4(FH):c.611A>T (p.His204Leu) rs1060500898 0.00001
NM_000143.4(FH):c.615A>G (p.Glu205=) rs1474356587 0.00001
NM_000143.4(FH):c.628G>A (p.Gly210Arg) rs949267641 0.00001
NM_000143.4(FH):c.62C>G (p.Ala21Gly) rs1131691251 0.00001
NM_000143.4(FH):c.639G>A (p.Lys213=) rs377222193 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000143.4(FH):c.655G>A (p.Asp219Asn) rs11545656 0.00001
NM_000143.4(FH):c.658G>A (p.Ala220Thr) rs747135440 0.00001
NM_000143.4(FH):c.684C>T (p.Ile228=) rs1384151924 0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys) rs587781682 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000143.4(FH):c.720T>C (p.Val240=) rs1228594697 0.00001
NM_000143.4(FH):c.73G>A (p.Ala25Thr) rs999146815 0.00001
NM_000143.4(FH):c.763G>A (p.Val255Ile) rs752144845 0.00001
NM_000143.4(FH):c.765A>G (p.Val255=) rs200965107 0.00001
NM_000143.4(FH):c.771T>C (p.Tyr257=) rs199909758 0.00001
NM_000143.4(FH):c.775A>G (p.Met259Val) rs1343775223 0.00001
NM_000143.4(FH):c.776T>C (p.Met259Thr) rs1407485828 0.00001
NM_000143.4(FH):c.784A>G (p.Ile262Val) rs199829765 0.00001
NM_000143.4(FH):c.788A>C (p.Lys263Thr) rs765997824 0.00001
NM_000143.4(FH):c.792T>C (p.Ala264=) rs368234566 0.00001
NM_000143.4(FH):c.800C>T (p.Pro267Leu) rs1415140301 0.00001
NM_000143.4(FH):c.805A>G (p.Ile269Val) rs377015873 0.00001
NM_000143.4(FH):c.80G>C (p.Gly27Ala) rs1339215584 0.00001
NM_000143.4(FH):c.816C>T (p.Leu272=) rs775368701 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000143.4(FH):c.81C>T (p.Gly27=) rs1206696042 0.00001
NM_000143.4(FH):c.830C>G (p.Thr277Ser) rs1553341160 0.00001
NM_000143.4(FH):c.853A>G (p.Thr285Ala) rs200791185 0.00001
NM_000143.4(FH):c.889G>A (p.Val297Met) rs1245254230 0.00001
NM_000143.4(FH):c.904+12C>T rs781047980 0.00001
NM_000143.4(FH):c.904+8A>G rs1311166590 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000143.4(FH):c.909G>C (p.Leu303Phe) rs1659857850 0.00001
NM_000143.4(FH):c.90C>A (p.Gly30=) rs1262096783 0.00001
NM_000143.4(FH):c.90C>T (p.Gly30=) rs1262096783 0.00001
NM_000143.4(FH):c.914T>C (p.Phe305Ser) rs1439046582 0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly) rs1057524385 0.00001
NM_000143.4(FH):c.961C>G (p.Leu321Val) rs763077972 0.00001
NM_000143.4(FH):c.96C>A (p.Ala32=) rs750087000 0.00001
NM_000143.4(FH):c.974G>C (p.Ser325Thr) rs1423324601 0.00001
NM_000143.4(FH):c.986A>G (p.Asn329Ser) rs768483509 0.00001
NM_000143.4(FH):c.987C>T (p.Asn329=) rs1049719 0.00001
NM_000143.4(FH):c.98T>G (p.Val33Gly) rs1319755767 0.00001
NM_000143.4(FH):c.993T>C (p.Thr331=) rs757921798 0.00001
NM_000143.4(FH):c.9A>C (p.Arg3=) rs941921568 0.00001
NC_000001.10:g.(?_241661128)_(241661280_?)del
NC_000001.10:g.(?_241661128)_(241667555_?)del
NC_000001.10:g.(?_241661128)_(241667555_?)dup
NC_000001.10:g.(?_241661128)_(241677023_?)dup
NC_000001.10:g.(?_241663727)_(241663900_?)del
NC_000001.10:g.(?_241665733)_(241667555_?)del
NC_000001.10:g.(?_241669293)_(241683022_?)dup
NC_000001.10:g.(?_241677041)_(241680477_?)del
NC_000001.10:g.(?_241680472)_(241683022_?)del
NC_000001.10:g.(?_241682881)_(241683022_?)del
NC_000001.11:g.(?_241497818)_(241502580_?)del
NC_000001.11:g.(?_241497818)_(241512153_?)del
NC_000001.11:g.(?_241505993)_(241506178_?)del
NC_000001.11:g.(?_241508593)_(241513723_?)del
NC_000001.11:g.(?_241517172)_(241519722_?)dup
NC_000001.11:g.241497346CA[7] rs34516025
NC_000001.11:g.241497971del rs2147911365
NM_000143.3(FH):c.556_557delAG rs1131691235
NM_000143.3(FH):c.695G>A (p.Gly232Glu) rs727503929
NM_000143.4(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.4(FH):c.1000A>G (p.Ser334Gly) rs587782216
NM_000143.4(FH):c.1000dup (p.Ser334fs) rs1659853029
NM_000143.4(FH):c.1002T>C (p.Ser334=) rs2147916185
NM_000143.4(FH):c.1003C>G (p.Leu335Val) rs1203364199
NM_000143.4(FH):c.100C>T (p.Pro34Ser) rs1191023697
NM_000143.4(FH):c.1012A>C (p.Ile338Leu)
NM_000143.4(FH):c.1013T>C (p.Ile338Thr) rs201975537
NM_000143.4(FH):c.1014A>G (p.Ile338Met)
NM_000143.4(FH):c.1015_1024delinsT (p.Ala339_Ile342delinsPhe)
NM_000143.4(FH):c.1015del (p.Ala339fs)
NM_000143.4(FH):c.1016C>A (p.Ala339Glu) rs1659852423
NM_000143.4(FH):c.1016C>T (p.Ala339Val) rs1659852423
NM_000143.4(FH):c.1019del (p.Asn340fs)
NM_000143.4(FH):c.1020T>C (p.Asn340=)
NM_000143.4(FH):c.1021G>A (p.Asp341Asn) rs11545655
NM_000143.4(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000143.4(FH):c.1023T>C (p.Asp341=) rs863223973
NM_000143.4(FH):c.1023T>G (p.Asp341Glu) rs863223973
NM_000143.4(FH):c.1025T>C (p.Ile342Thr) rs201383596
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.4(FH):c.1028G>C (p.Arg343Pro) rs756990249
NM_000143.4(FH):c.1028del (p.Arg343fs) rs1553341026
NM_000143.4(FH):c.102C>A (p.Pro34=)
NM_000143.4(FH):c.102_120del (p.Ser35fs) rs2147926843
NM_000143.4(FH):c.102del (p.Ser35fs) rs2147926893
NM_000143.4(FH):c.102dup (p.Ser35fs)
NM_000143.4(FH):c.1030T>G (p.Phe344Val) rs2147916143
NM_000143.4(FH):c.1035G>A (p.Leu345=) rs1558397757
NM_000143.4(FH):c.1036G>A (p.Gly346Ser) rs1553341024
NM_000143.4(FH):c.1037G>A (p.Gly346Asp) rs2147916135
NM_000143.4(FH):c.1039T>C (p.Ser347Pro)
NM_000143.4(FH):c.103T>C (p.Ser35Pro) rs1573889890
NM_000143.4(FH):c.1040C>T (p.Ser347Phe) rs1573880377
NM_000143.4(FH):c.1041del (p.Gly348fs) rs1060499641
NM_000143.4(FH):c.1046C>G (p.Pro349Arg) rs1553341017
NM_000143.4(FH):c.1051T>A (p.Ser351Thr) rs766918221
NM_000143.4(FH):c.1051T>G (p.Ser351Ala) rs766918221
NM_000143.4(FH):c.1052C>A (p.Ser351Ter) rs1060500896
NM_000143.4(FH):c.1052C>G (p.Ser351Ter) rs1060500896
NM_000143.4(FH):c.1055G>A (p.Gly352Asp) rs1659850534
NM_000143.4(FH):c.1056dup (p.Leu353fs) rs863224016
NM_000143.4(FH):c.1058T>C (p.Leu353Pro)
NM_000143.4(FH):c.1058_1108+19del
NM_000143.4(FH):c.105G>C (p.Ser35=) rs181655698
NM_000143.4(FH):c.105G>T (p.Ser35=)
NM_000143.4(FH):c.1061G>A (p.Gly354Glu) rs1057523184
NM_000143.4(FH):c.1061G>C (p.Gly354Ala) rs1057523184
NM_000143.4(FH):c.1063G>A (p.Glu355Lys)
NM_000143.4(FH):c.1063G>T (p.Glu355Ter) rs1060499642
NM_000143.4(FH):c.1066T>C (p.Leu356=) rs1157405003
NM_000143.4(FH):c.1067T>A (p.Leu356Ter) rs727503927
NM_000143.4(FH):c.1067T>C (p.Leu356Ser)
NM_000143.4(FH):c.1068_1069delinsAC (p.Ile357Leu) rs2147916070
NM_000143.4(FH):c.1069A>G (p.Ile357Val) rs1027877625
NM_000143.4(FH):c.1070T>C (p.Ile357Thr) rs1388251431
NM_000143.4(FH):c.1071C>A (p.Ile357=) rs1391140770
NM_000143.4(FH):c.1071C>G (p.Ile357Met) rs1391140770
NM_000143.4(FH):c.1071C>T (p.Ile357=) rs1391140770
NM_000143.4(FH):c.1072T>C (p.Leu358=) rs918902822
NM_000143.4(FH):c.1083T>G (p.Asn361Lys) rs1659849280
NM_000143.4(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.4(FH):c.1084G>A (p.Glu362Lys) rs121913119
NM_000143.4(FH):c.1086A>G (p.Glu362=) rs1553341008
NM_000143.4(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.4(FH):c.1094G>A (p.Ser365Asn) rs1131691238
NM_000143.4(FH):c.1097G>A (p.Ser366Asn) rs863224004
NM_000143.4(FH):c.1098T>C (p.Ser366=) rs2147916028
NM_000143.4(FH):c.109del (p.Trp37fs) rs2147926875
NM_000143.4(FH):c.10G>A (p.Ala4Thr) rs1573890047
NM_000143.4(FH):c.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu) rs863223987
NM_000143.4(FH):c.1105C>T (p.Pro369Ser)
NM_000143.4(FH):c.1108+10T>A rs201513242
NM_000143.4(FH):c.1108+16G>T
NM_000143.4(FH):c.1108+18A>G rs2147915986
NM_000143.4(FH):c.1108+19A>G
NM_000143.4(FH):c.1108+1G>A rs1057517734
NM_000143.4(FH):c.1108+1G>T rs1057517734
NM_000143.4(FH):c.1108+3A>G rs200118475
NM_000143.4(FH):c.1108+8C>A
NM_000143.4(FH):c.1108+9A>T
NM_000143.4(FH):c.1108G>C (p.Gly370Arg) rs1659848371
NM_000143.4(FH):c.1109-12G>A
NM_000143.4(FH):c.1109-15G>A rs2147915063
NM_000143.4(FH):c.1109-15G>T rs2147915063
NM_000143.4(FH):c.1109-19A>C
NM_000143.4(FH):c.1109-19A>G rs2147915066
NM_000143.4(FH):c.1109-1G>C rs1298313966
NM_000143.4(FH):c.1109-20C>T rs2147915068
NM_000143.4(FH):c.1109-3A>G rs1659810726
NM_000143.4(FH):c.1109-3A>T
NM_000143.4(FH):c.1109-4G>A rs959933221
NM_000143.4(FH):c.1109-4G>C
NM_000143.4(FH):c.1109G>A (p.Gly370Asp) rs1553340894
NM_000143.4(FH):c.110G>C (p.Trp37Ser) rs1660318244
NM_000143.4(FH):c.1112del (p.Lys371fs) rs1060500904
NM_000143.4(FH):c.1117A>G (p.Asn373Asp)
NM_000143.4(FH):c.1117_1119del (p.Asn373del) rs1553340884
NM_000143.4(FH):c.1118A>G (p.Asn373Ser) rs1060499643
NM_000143.4(FH):c.1119C>A (p.Asn373Lys) rs542014575
NM_000143.4(FH):c.1119C>T (p.Asn373=) rs542014575
NM_000143.4(FH):c.1122T>C (p.Pro374=)
NM_000143.4(FH):c.1123A>G (p.Thr375Ala) rs1573879366
NM_000143.4(FH):c.1124C>T (p.Thr375Ile) rs1659809804
NM_000143.4(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.4(FH):c.1128G>A (p.Gln376=)
NM_000143.4(FH):c.1129T>C (p.Cys377Arg) rs398123161
NM_000143.4(FH):c.112C>T (p.Pro38Ser)
NM_000143.4(FH):c.1134A>G (p.Glu378=)
NM_000143.4(FH):c.1136C>A (p.Ala379Glu) rs2147914999
NM_000143.4(FH):c.1137A>G (p.Ala379=)
NM_000143.4(FH):c.1138del (p.Ala379_Met380insTer) rs781466938
NM_000143.4(FH):c.1138dup (p.Met380fs) rs781466938
NM_000143.4(FH):c.1139_1142del (p.Met380fs) rs863223988
NM_000143.4(FH):c.113C>T (p.Pro38Leu) rs2147926864
NM_000143.4(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.4(FH):c.1145T>C (p.Met382Thr) rs2147914987
NM_000143.4(FH):c.1146G>A (p.Met382Ile) rs863224006
NM_000143.4(FH):c.1147G>C (p.Val383Leu) rs2147914983
NM_000143.4(FH):c.1148T>C (p.Val383Ala)
NM_000143.4(FH):c.1149T>G (p.Val383=) rs2147914979
NM_000143.4(FH):c.114T>C (p.Pro38=) rs2147926861
NM_000143.4(FH):c.1151C>T (p.Ala384Val) rs904463039
NM_000143.4(FH):c.1152A>C (p.Ala384=) rs2147914968
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1155C>T (p.Ala385=)
NM_000143.4(FH):c.1156C>A (p.Gln386Lys)
NM_000143.4(FH):c.1156C>G (p.Gln386Glu) rs2147914963
NM_000143.4(FH):c.1156C>T (p.Gln386Ter)
NM_000143.4(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.4(FH):c.1158A>C (p.Gln386His) rs2147914951
NM_000143.4(FH):c.115C>T (p.Pro39Ser) rs2147926857
NM_000143.4(FH):c.1161C>T (p.Val387=)
NM_000143.4(FH):c.1162A>G (p.Met388Val) rs1573879331
NM_000143.4(FH):c.1162A>T (p.Met388Leu)
NM_000143.4(FH):c.1163T>C (p.Met388Thr) rs876660830
NM_000143.4(FH):c.1163T>G (p.Met388Arg) rs876660830
NM_000143.4(FH):c.1167del (p.Asn390fs)
NM_000143.4(FH):c.1169A>G (p.Asn390Ser) rs1178007598
NM_000143.4(FH):c.1170C>A (p.Asn390Lys) rs1659806898
NM_000143.4(FH):c.1170C>G (p.Asn390Lys) rs1659806898
NM_000143.4(FH):c.1171C>T (p.His391Tyr)
NM_000143.4(FH):c.1172A>C (p.His391Pro) rs1659806824
NM_000143.4(FH):c.1172A>G (p.His391Arg) rs1659806824
NM_000143.4(FH):c.1176T>C (p.Val392=)
NM_000143.4(FH):c.1176_1181del (p.Ala393_Val394del) rs1659806431
NM_000143.4(FH):c.1177G>C (p.Ala393Pro) rs2147914910
NM_000143.4(FH):c.1178C>T (p.Ala393Val)
NM_000143.4(FH):c.117G>A (p.Pro39=)
NM_000143.4(FH):c.117G>C (p.Pro39=)
NM_000143.4(FH):c.117G>T (p.Pro39=) rs1291665514
NM_000143.4(FH):c.1186G>C (p.Val396Leu) rs753996659
NM_000143.4(FH):c.1187T>G (p.Val396Gly) rs1659806206
NM_000143.4(FH):c.1194C>A (p.Gly398=) rs1659805814
NM_000143.4(FH):c.1194C>T (p.Gly398=) rs1659805814
NM_000143.4(FH):c.1196G>A (p.Ser399Asn) rs1659805662
NM_000143.4(FH):c.1197C>T (p.Ser399=) rs1659805592
NM_000143.4(FH):c.11C>A (p.Ala4Glu) rs1252151546
NM_000143.4(FH):c.11C>G (p.Ala4Gly)
NM_000143.4(FH):c.1200T>C (p.Asn400=) rs1659805291
NM_000143.4(FH):c.1200T>G (p.Asn400Lys) rs1659805291
NM_000143.4(FH):c.1200del (p.Asn400fs) rs398123162
NM_000143.4(FH):c.1202G>A (p.Gly401Glu) rs1573879289
NM_000143.4(FH):c.1204C>A (p.His402Asn)
NM_000143.4(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.4(FH):c.1205A>T (p.His402Leu) rs886039366
NM_000143.4(FH):c.1205del (p.His402fs) rs1558397011
NM_000143.4(FH):c.1207T>C (p.Phe403Leu)
NM_000143.4(FH):c.1209del (p.Phe403fs) rs1060499644
NM_000143.4(FH):c.120C>T (p.Asn40=) rs876658186
NM_000143.4(FH):c.120_130del (p.Ala41fs) rs1573889860
NM_000143.4(FH):c.1210G>T (p.Glu404Ter) rs797044974
NM_000143.4(FH):c.1212G>A (p.Glu404=) rs752558644
NM_000143.4(FH):c.1212G>T (p.Glu404Asp)
NM_000143.4(FH):c.1216A>G (p.Asn406Asp) rs876659362
NM_000143.4(FH):c.1217A>G (p.Asn406Ser)
NM_000143.4(FH):c.1218T>A (p.Asn406Lys)
NM_000143.4(FH):c.1224C>G (p.Phe408Leu) rs759548413
NM_000143.4(FH):c.1224C>T (p.Phe408=)
NM_000143.4(FH):c.1227G>C (p.Lys409Asn) rs774493741
NM_000143.4(FH):c.1228C>T (p.Pro410Ser) rs2147914837
NM_000143.4(FH):c.1229C>G (p.Pro410Arg) rs1057517735
NM_000143.4(FH):c.1229C>T (p.Pro410Leu) rs1057517735
NM_000143.4(FH):c.122_123del (p.Ala41fs)
NM_000143.4(FH):c.1234A>T (p.Met412Leu)
NM_000143.4(FH):c.1236+14C>A rs149241949
NM_000143.4(FH):c.1236+15T>C
NM_000143.4(FH):c.1236+16G>C rs1424755855
NM_000143.4(FH):c.1236+16G>T
NM_000143.4(FH):c.1236+19T>G
NM_000143.4(FH):c.1236+1G>A rs1131691249
NM_000143.4(FH):c.1236+1G>C rs1131691249
NM_000143.4(FH):c.1236+2T>G
NM_000143.4(FH):c.1236+346_1236+355del rs143840817
NM_000143.4(FH):c.1236+4dup
NM_000143.4(FH):c.1236+6C>A
NM_000143.4(FH):c.1236+6C>T
NM_000143.4(FH):c.1236+8T>G
NM_000143.4(FH):c.1236G>A (p.Met412Ile) rs1573879248
NM_000143.4(FH):c.1237-10T>C rs2147913445
NM_000143.4(FH):c.1237-10_1237-9dup rs1553340717
NM_000143.4(FH):c.1237-13_1237-12insTT rs1553340725
NM_000143.4(FH):c.1237-14_1237-5del rs759012809
NM_000143.4(FH):c.1237-14_1237-9del
NM_000143.4(FH):c.1237-14_1237-9dup rs779985493
NM_000143.4(FH):c.1237-15CTCA[2] rs750898743
NM_000143.4(FH):c.1237-15CTCA[4] rs750898743
NM_000143.4(FH):c.1237-16_1237-9dup rs1553340718
NM_000143.4(FH):c.1237-1G>C
NM_000143.4(FH):c.1237-1G>T rs1573878149
NM_000143.4(FH):c.1237-3A>G rs2147913409
NM_000143.4(FH):c.1237-3A>T rs2147913409
NM_000143.4(FH):c.1237-4A>C rs1659749175
NM_000143.4(FH):c.1237-4A>G rs1659749175
NM_000143.4(FH):c.1237-50TC[18] rs144131869
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.1237-50TC[22] rs144131869
NM_000143.4(FH):c.1237-50TC[23] rs144131869
NM_000143.4(FH):c.1237-50TC[24] rs144131869
NM_000143.4(FH):c.1237-50TC[25] rs144131869
NM_000143.4(FH):c.1237-50TC[26] rs144131869
NM_000143.4(FH):c.1237-5C>G rs200926050
NM_000143.4(FH):c.1237-5C>T rs200926050
NM_000143.4(FH):c.1237-8A>T
NM_000143.4(FH):c.1237-9_1237-8insCTCT rs1553340717
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT rs1553340717
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCT
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCT rs1553340717
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCT rs1553340717
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCTCT rs1553340717
NM_000143.4(FH):c.1237A>G (p.Ile413Val)
NM_000143.4(FH):c.1238T>C (p.Ile413Thr)
NM_000143.4(FH):c.1238_1239dup (p.Lys414fs)
NM_000143.4(FH):c.1239T>G (p.Ile413Met)
NM_000143.4(FH):c.123G>A (p.Ala41=) rs1660317620
NM_000143.4(FH):c.123G>C (p.Ala41=) rs1660317620
NM_000143.4(FH):c.1240A>G (p.Lys414Glu) rs1573878145
NM_000143.4(FH):c.1240A>T (p.Lys414Ter) rs1573878145
NM_000143.4(FH):c.1241A>G (p.Lys414Arg) rs2147913385
NM_000143.4(FH):c.1243A>C (p.Asn415His) rs1659748903
NM_000143.4(FH):c.1245T>C (p.Asn415=)
NM_000143.4(FH):c.1246G>A (p.Val416Met)
NM_000143.4(FH):c.1247del (p.Val416fs) rs2147913368
NM_000143.4(FH):c.1248G>A (p.Val416=) rs1659748690
NM_000143.4(FH):c.1249T>C (p.Leu417=) rs2147913360
NM_000143.4(FH):c.124G>A (p.Ala42Thr)
NM_000143.4(FH):c.124G>T (p.Ala42Ser) rs2147926832
NM_000143.4(FH):c.1250T>G (p.Leu417Ter) rs1553340709
NM_000143.4(FH):c.1251dup (p.His418fs) rs1553340708
NM_000143.4(FH):c.1252C>G (p.His418Asp)
NM_000143.4(FH):c.1252C>T (p.His418Tyr)
NM_000143.4(FH):c.1253A>T (p.His418Leu)
NM_000143.4(FH):c.1255T>G (p.Ser419Ala)
NM_000143.4(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.4(FH):c.1257A>C (p.Ser419=)
NM_000143.4(FH):c.1259C>A (p.Ala420Asp) rs766377516
NM_000143.4(FH):c.1259_1262dup (p.Arg421fs) rs2147913317
NM_000143.4(FH):c.125C>T (p.Ala42Val) rs1194980336
NM_000143.4(FH):c.1261A>G (p.Arg421Gly) rs1659748055
NM_000143.4(FH):c.1262G>C (p.Arg421Thr) rs1659747962
NM_000143.4(FH):c.1262G>T (p.Arg421Met) rs1659747962
NM_000143.4(FH):c.1263G>C (p.Arg421Ser) rs777409218
NM_000143.4(FH):c.1263G>T (p.Arg421Ser) rs777409218
NM_000143.4(FH):c.1263del (p.Arg421fs) rs863223989
NM_000143.4(FH):c.1266G>A (p.Leu422=)
NM_000143.4(FH):c.1267_1268delinsG (p.Leu423fs)
NM_000143.4(FH):c.1268T>G (p.Leu423Arg) rs863224009
NM_000143.4(FH):c.1269G>A (p.Leu423=) rs2147913292
NM_000143.4(FH):c.1269_1278del (p.Gly424fs)
NM_000143.4(FH):c.1270G>A (p.Gly424Arg) rs1553340705
NM_000143.4(FH):c.1273G>A (p.Asp425Asn)
NM_000143.4(FH):c.1275T>A (p.Asp425Glu)
NM_000143.4(FH):c.1277C>A (p.Ala426Asp) rs1553340703
NM_000143.4(FH):c.1278T>A (p.Ala426=)
NM_000143.4(FH):c.127C>T (p.Arg43Ter) rs200496951
NM_000143.4(FH):c.1280C>T (p.Ser427Leu) rs1573878095
NM_000143.4(FH):c.1280del (p.Ala426_Ser427insTer) rs2147913263
NM_000143.4(FH):c.1282G>C (p.Val428Leu) rs1558396381
NM_000143.4(FH):c.1285T>C (p.Ser429Pro)
NM_000143.4(FH):c.1286C>G (p.Ser429Cys) rs1558396375
NM_000143.4(FH):c.1287C>T (p.Ser429=) rs2147913245
NM_000143.4(FH):c.1287del (p.Phe430fs) rs1659746788
NM_000143.4(FH):c.1289T>A (p.Phe430Tyr)
NM_000143.4(FH):c.128G>T (p.Arg43Leu) rs2147926825
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) rs201005880
NM_000143.4(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs) rs1553340686
NM_000143.4(FH):c.1297A>T (p.Asn433Tyr) rs200121326
NM_000143.4(FH):c.1298del (p.Asn433fs)
NM_000143.4(FH):c.12A>T (p.Ala4=) rs201277370
NM_000143.4(FH):c.1300T>C (p.Cys434Arg) rs1659745968
NM_000143.4(FH):c.1302C>A (p.Cys434Ter) rs2070080
NM_000143.4(FH):c.1302_1303del (p.Val435fs)
NM_000143.4(FH):c.1303G>C (p.Val435Leu)
NM_000143.4(FH):c.1304T>C (p.Val435Ala) rs982483795
NM_000143.4(FH):c.1305G>A (p.Val435=) rs772415507
NM_000143.4(FH):c.1305G>T (p.Val435=) rs772415507
NM_000143.4(FH):c.1306G>A (p.Val436Met) rs1324526971
NM_000143.4(FH):c.1306G>T (p.Val436Leu) rs1324526971
NM_000143.4(FH):c.1309G>C (p.Gly437Arg)
NM_000143.4(FH):c.1310del (p.Gly437fs) rs2147913184
NM_000143.4(FH):c.1318G>A (p.Ala440Thr)
NM_000143.4(FH):c.132+10G>T
NM_000143.4(FH):c.132+12C>T
NM_000143.4(FH):c.132+14G>A
NM_000143.4(FH):c.132+15C>T
NM_000143.4(FH):c.132+16C>T
NM_000143.4(FH):c.132+5G>A rs1060499627
NM_000143.4(FH):c.132+7G>A rs1006041574
NM_000143.4(FH):c.1322A>G (p.Asn441Ser) rs1357584529
NM_000143.4(FH):c.1323T>A (p.Asn441Lys) rs945101483
NM_000143.4(FH):c.1323T>C (p.Asn441=)
NM_000143.4(FH):c.1324A>G (p.Thr442Ala) rs771503401
NM_000143.4(FH):c.1325C>G (p.Thr442Arg) rs1060500899
NM_000143.4(FH):c.1325C>T (p.Thr442Ile)
NM_000143.4(FH):c.1326A>C (p.Thr442=)
NM_000143.4(FH):c.1326A>G (p.Thr442=) rs2147913140
NM_000143.4(FH):c.1327G>T (p.Glu443Ter) rs1553340687
NM_000143.4(FH):c.1328_1331dup (p.Ile445fs) rs1573878004
NM_000143.4(FH):c.132G>A (p.Met44Ile) rs863223982
NM_000143.4(FH):c.133-10T>C rs1660247033
NM_000143.4(FH):c.133-11C>T
NM_000143.4(FH):c.133-14A>C
NM_000143.4(FH):c.133-15T>C
NM_000143.4(FH):c.133-16G>A
NM_000143.4(FH):c.133-3T>G
NM_000143.4(FH):c.133-5T>C
NM_000143.4(FH):c.133-7T>C
NM_000143.4(FH):c.133-8G>C rs2147925319
NM_000143.4(FH):c.1330A>G (p.Arg444Gly) rs749266351
NM_000143.4(FH):c.1337A>G (p.Asn446Ser) rs2147913108
NM_000143.4(FH):c.1338C>G (p.Asn446Lys) rs113572177
NM_000143.4(FH):c.1339A>C (p.Lys447Gln)
NM_000143.4(FH):c.1339A>T (p.Lys447Ter) rs863223977
NM_000143.4(FH):c.133G>T (p.Ala45Ser) rs1260007300
NM_000143.4(FH):c.1340A>G (p.Lys447Arg) rs756326120
NM_000143.4(FH):c.1342C>T (p.Leu448=) rs2147913090
NM_000143.4(FH):c.1346del (p.Met449fs)
NM_000143.4(FH):c.1347G>A (p.Met449Ile) rs376502356
NM_000143.4(FH):c.1347del (p.Met449fs) rs1060500903
NM_000143.4(FH):c.1348A>G (p.Asn450Asp) rs1659742832
NM_000143.4(FH):c.1349_1352del (p.Asn450fs) rs863223990
NM_000143.4(FH):c.1351G>T (p.Glu451Ter) rs1558396320
NM_000143.4(FH):c.1352A>G (p.Glu451Gly)
NM_000143.4(FH):c.1354T>A (p.Ser452Thr) rs201388169
NM_000143.4(FH):c.1356T>C (p.Ser452=)
NM_000143.4(FH):c.1357C>G (p.Leu453Val) rs1218102979
NM_000143.4(FH):c.1357C>T (p.Leu453=)
NM_000143.4(FH):c.1357_1358del (p.Leu453fs) rs863223991
NM_000143.4(FH):c.1358T>C (p.Leu453Pro) rs2147913041
NM_000143.4(FH):c.1359A>G (p.Leu453=) rs2147913040
NM_000143.4(FH):c.1361T>C (p.Met454Thr) rs1353763695
NM_000143.4(FH):c.1362G>A (p.Met454Ile) rs766177929
NM_000143.4(FH):c.1366G>C (p.Val456Leu) rs200244096
NM_000143.4(FH):c.1368G>A (p.Val456=)
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs) rs863223992
NM_000143.4(FH):c.1371A>G (p.Thr457=)
NM_000143.4(FH):c.1378A>G (p.Asn460Asp)
NM_000143.4(FH):c.1379A>G (p.Asn460Ser) rs767253363
NM_000143.4(FH):c.1382C>T (p.Pro461Leu)
NM_000143.4(FH):c.1384C>T (p.His462Tyr) rs201625211
NM_000143.4(FH):c.1385A>G (p.His462Arg) rs1466657268
NM_000143.4(FH):c.1386T>C (p.His462=)
NM_000143.4(FH):c.1389A>G (p.Ile463Met) rs876659472
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1390+2T>C rs1558396285
NM_000143.4(FH):c.1390+3A>G
NM_000143.4(FH):c.1390+3_1390+6del
NM_000143.4(FH):c.1390+4A>T rs2147913003
NM_000143.4(FH):c.1390+4dup
NM_000143.4(FH):c.1390+5G>A rs1352808353
NM_000143.4(FH):c.1390+6T>C rs1338650106
NM_000143.4(FH):c.1390+9T>A
NM_000143.4(FH):c.1390+9T>C
NM_000143.4(FH):c.1391-12T>G
NM_000143.4(FH):c.1391-13A>T
NM_000143.4(FH):c.1391-13_1391-11del
NM_000143.4(FH):c.1391-14del
NM_000143.4(FH):c.1391-17T>A
NM_000143.4(FH):c.1391-17T>G
NM_000143.4(FH):c.1391-19C>A rs750363222
NM_000143.4(FH):c.1391-1G>A rs863223978
NM_000143.4(FH):c.1391-1G>C rs863223978
NM_000143.4(FH):c.1391-1_1391delinsTT rs2147911367
NM_000143.4(FH):c.1391-269A>G rs2147911550
NM_000143.4(FH):c.1391-2A>G rs863224008
NM_000143.4(FH):c.1391-2A>T rs863224008
NM_000143.4(FH):c.1391-2del rs1064795320
NM_000143.4(FH):c.1391-3C>T
NM_000143.4(FH):c.1391-9T>G rs2147911387
NM_000143.4(FH):c.1391G>T (p.Gly464Val) rs1131691250
NM_000143.4(FH):c.1392G>A (p.Gly464=) rs2147911364
NM_000143.4(FH):c.1392G>T (p.Gly464=)
NM_000143.4(FH):c.1398C>G (p.Asp466Glu) rs1558395525
NM_000143.4(FH):c.1398C>T (p.Asp466=) rs1558395525
NM_000143.4(FH):c.1399A>G (p.Lys467Glu) rs2147911350
NM_000143.4(FH):c.139C>T (p.Gln47Ter) rs863223980
NM_000143.4(FH):c.13C>G (p.Leu5Val) rs1553342165
NM_000143.4(FH):c.1400dup (p.Ala468fs) rs863223993
NM_000143.4(FH):c.1403C>T (p.Ala468Val)
NM_000143.4(FH):c.140_147del (p.Gln47fs) rs1573888556
NM_000143.4(FH):c.1410G>A (p.Lys470=) rs1343209025
NM_000143.4(FH):c.1411A>G (p.Ile471Val)
NM_000143.4(FH):c.1411A>T (p.Ile471Phe) rs1659667519
NM_000143.4(FH):c.1413T>C (p.Ile471=)
NM_000143.4(FH):c.1414G>A (p.Ala472Thr)
NM_000143.4(FH):c.1415C>A (p.Ala472Asp) rs765643179
NM_000143.4(FH):c.1415C>T (p.Ala472Val) rs765643179
NM_000143.4(FH):c.1416T>A (p.Ala472=)
NM_000143.4(FH):c.141A>G (p.Gln47=) rs1573888563
NM_000143.4(FH):c.1421C>T (p.Thr474Ile) rs369802820
NM_000143.4(FH):c.1422A>G (p.Thr474=) rs1573876607
NM_000143.4(FH):c.1422A>T (p.Thr474=) rs1573876607
NM_000143.4(FH):c.1424C>A (p.Ala475Glu) rs863224012
NM_000143.4(FH):c.1425A>G (p.Ala475=)
NM_000143.4(FH):c.1427A>G (p.His476Arg) rs1202960869
NM_000143.4(FH):c.1429A>G (p.Lys477Glu) rs547519260
NM_000143.4(FH):c.1430A>C (p.Lys477Thr) rs761934894
NM_000143.4(FH):c.1430_1437dup (p.Ser480fs) rs863223994
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1434T>A (p.Asn478Lys) rs786202199
NM_000143.4(FH):c.1435G>T (p.Gly479Ter) rs1573876584
NM_000143.4(FH):c.1437_1443del (p.Gly479_Ser480insTer)
NM_000143.4(FH):c.1439C>G (p.Ser480Ter) rs1131691245
NM_000143.4(FH):c.1439C>T (p.Ser480Leu) rs1131691245
NM_000143.4(FH):c.143A>T (p.Asn48Ile) rs1660246440
NM_000143.4(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.4(FH):c.1446A>C (p.Leu482Phe) rs863223979
NM_000143.4(FH):c.1446_1449del (p.Glu484fs) rs398123165
NM_000143.4(FH):c.1450G>A (p.Glu484Lys)
NM_000143.4(FH):c.1450G>T (p.Glu484Ter)
NM_000143.4(FH):c.1455T>C (p.Thr485=) rs2147911274
NM_000143.4(FH):c.1456_1458del (p.Ala486del) rs2147911262
NM_000143.4(FH):c.1457C>A (p.Ala486Asp) rs2147911265
NM_000143.4(FH):c.1457del (p.Ala486fs) rs2147911268
NM_000143.4(FH):c.1458T>C (p.Ala486=)
NM_000143.4(FH):c.1459A>G (p.Ile487Val) rs1391195810
NM_000143.4(FH):c.1460T>G (p.Ile487Ser)
NM_000143.4(FH):c.1461C>A (p.Ile487=) rs377091029
NM_000143.4(FH):c.1462del (p.Glu488fs)
NM_000143.4(FH):c.1463A>T (p.Glu488Val)
NM_000143.4(FH):c.1464A>G (p.Glu488=)
NM_000143.4(FH):c.1467T>C (p.Leu489=) rs1573876542
NM_000143.4(FH):c.1468G>C (p.Gly490Arg) rs1553340515
NM_000143.4(FH):c.1469del (p.Gly490fs) rs1060499645
NM_000143.4(FH):c.1470C>G (p.Gly490=)
NM_000143.4(FH):c.1474C>G (p.Leu492Val) rs1659663430
NM_000143.4(FH):c.1475_1476del (p.Leu492fs) rs886041201
NM_000143.4(FH):c.1476C>G (p.Leu492=) rs1659663240
NM_000143.4(FH):c.1478C>A (p.Thr493Lys) rs1558395446
NM_000143.4(FH):c.1478del (p.Thr493fs) rs2147911225
NM_000143.4(FH):c.1480G>C (p.Ala494Pro) rs1553340508
NM_000143.4(FH):c.1481C>A (p.Ala494Glu)
NM_000143.4(FH):c.1481C>G (p.Ala494Gly) rs752369363
NM_000143.4(FH):c.1481C>T (p.Ala494Val) rs752369363
NM_000143.4(FH):c.1484A>G (p.Glu495Gly) rs2147911220
NM_000143.4(FH):c.1484_1488del (p.Glu495fs) rs1060500907
NM_000143.4(FH):c.1485G>A (p.Glu495=)
NM_000143.4(FH):c.1486C>T (p.Gln496Ter) rs1553340506
NM_000143.4(FH):c.1489T>C (p.Phe497Leu) rs2147911216
NM_000143.4(FH):c.148T>C (p.Phe50Leu) rs1558402284
NM_000143.4(FH):c.1491T>C (p.Phe497=)
NM_000143.4(FH):c.1493A>G (p.Asp498Gly)
NM_000143.4(FH):c.1495G>A (p.Glu499Lys) rs750838853
NM_000143.4(FH):c.1495G>T (p.Glu499Ter)
NM_000143.4(FH):c.1497del (p.Glu499fs) rs1659662318
NM_000143.4(FH):c.1498T>C (p.Trp500Arg)
NM_000143.4(FH):c.1499G>A (p.Trp500Ter) rs2147911203
NM_000143.4(FH):c.14T>C (p.Leu5Pro) rs200099371
NM_000143.4(FH):c.14T>G (p.Leu5Arg)
NM_000143.4(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.4(FH):c.1504A>G (p.Lys502Glu)
NM_000143.4(FH):c.1506dup (p.Pro503fs) rs886041202
NM_000143.4(FH):c.1508C>G (p.Pro503Arg) rs1659661748
NM_000143.4(FH):c.1508_1509insCAAACC (p.Pro503_Lys504dup) rs1060500895
NM_000143.4(FH):c.150C>T (p.Phe50=) rs2147925282
NM_000143.4(FH):c.1512G>A (p.Lys504=)
NM_000143.4(FH):c.1516A>G (p.Met506Val) rs762413315
NM_000143.4(FH):c.1518G>A (p.Met506Ile) rs2147911190
NM_000143.4(FH):c.1518G>T (p.Met506Ile)
NM_000143.4(FH):c.151C>A (p.Arg51=) rs778678782
NM_000143.4(FH):c.1520T>A (p.Leu507Gln)
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.1521G>A (p.Leu507=) rs2147911186
NM_000143.4(FH):c.1522G>C (p.Gly508Arg) rs1659661545
NM_000143.4(FH):c.1522G>T (p.Gly508Cys) rs1659661545
NM_000143.4(FH):c.1523G>A (p.Gly508Asp)
NM_000143.4(FH):c.1524T>G (p.Gly508=)
NM_000143.4(FH):c.1528A>C (p.Lys510Gln) rs2147911176
NM_000143.4(FH):c.1528A>G (p.Lys510Glu)
NM_000143.4(FH):c.1529A>G (p.Lys510Arg) rs2147911174
NM_000143.4(FH):c.152G>A (p.Arg51Gln) rs976734433
NM_000143.4(FH):c.152G>C (p.Arg51Pro) rs976734433
NM_000143.4(FH):c.1532G>C (p.Ter511Ser) rs2147911168
NM_000143.4(FH):c.154A>G (p.Ile52Val) rs543844061
NM_000143.4(FH):c.157G>A (p.Glu53Lys) rs863224013
NM_000143.4(FH):c.157G>T (p.Glu53Ter) rs863224013
NM_000143.4(FH):c.15T>G (p.Leu5=) rs2147927079
NM_000143.4(FH):c.163G>T (p.Asp55Tyr)
NM_000143.4(FH):c.164A>G (p.Asp55Gly) rs1660245400
NM_000143.4(FH):c.166A>G (p.Thr56Ala) rs1232573732
NM_000143.4(FH):c.167C>A (p.Thr56Asn) rs1433872618
NM_000143.4(FH):c.167C>T (p.Thr56Ile) rs1433872618
NM_000143.4(FH):c.168C>T (p.Thr56=) rs574938106
NM_000143.4(FH):c.16C>T (p.Arg6Trp) rs1660324018
NM_000143.4(FH):c.170T>C (p.Phe57Ser) rs759884607
NM_000143.4(FH):c.172G>A (p.Gly58Ser) rs11545659
NM_000143.4(FH):c.174_177dup (p.Leu60Ter) rs1131691246
NM_000143.4(FH):c.175G>T (p.Glu59Ter) rs1573888513
NM_000143.4(FH):c.177A>G (p.Glu59=) rs2147925246
NM_000143.4(FH):c.17G>A (p.Arg6Gln)
NM_000143.4(FH):c.17G>C (p.Arg6Pro)
NM_000143.4(FH):c.180A>G (p.Leu60=) rs1573888502
NM_000143.4(FH):c.183G>A (p.Lys61=) rs766840026
NM_000143.4(FH):c.183G>C (p.Lys61Asn) rs766840026
NM_000143.4(FH):c.185_188dup (p.Asn64fs) rs1558402255
NM_000143.4(FH):c.186G>A (p.Val62=)
NM_000143.4(FH):c.187C>A (p.Pro63Thr) rs1573888488
NM_000143.4(FH):c.187C>T (p.Pro63Ser) rs1573888488
NM_000143.4(FH):c.189A>C (p.Pro63=) rs375195780
NM_000143.4(FH):c.189A>G (p.Pro63=)
NM_000143.4(FH):c.18G>A (p.Arg6=)
NM_000143.4(FH):c.193G>T (p.Asp65Tyr) rs769956664
NM_000143.4(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.4(FH):c.198G>A (p.Lys66=) rs556439883
NM_000143.4(FH):c.199T>G (p.Tyr67Asp) rs1660243497
NM_000143.4(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.4(FH):c.1A>T (p.Met1Leu) rs776806414
NM_000143.4(FH):c.201T>G (p.Tyr67Ter) rs1558402241
NM_000143.4(FH):c.204T>A (p.Tyr68Ter) rs1060500883
NM_000143.4(FH):c.204T>C (p.Tyr68=) rs1060500883
NM_000143.4(FH):c.206G>A (p.Gly69Asp) rs1660243078
NM_000143.4(FH):c.207C>G (p.Gly69=) rs370392829
NM_000143.4(FH):c.209C>T (p.Ala70Val) rs1573888433
NM_000143.4(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.4(FH):c.215C>A (p.Thr72Asn) rs2147925174
NM_000143.4(FH):c.216C>T (p.Thr72=) rs1341995835
NM_000143.4(FH):c.219G>C (p.Val73=)
NM_000143.4(FH):c.21C>A (p.Leu7=)
NM_000143.4(FH):c.21C>G (p.Leu7=) rs1263147931
NM_000143.4(FH):c.221G>A (p.Arg74Lys) rs200922399
NM_000143.4(FH):c.221G>C (p.Arg74Thr)
NM_000143.4(FH):c.221dup (p.Ser75fs) rs1553341951
NM_000143.4(FH):c.222A>G (p.Arg74=)
NM_000143.4(FH):c.226A>G (p.Thr76Ala)
NM_000143.4(FH):c.228G>A (p.Thr76=) rs373586584
NM_000143.4(FH):c.228G>C (p.Thr76=) rs373586584
NM_000143.4(FH):c.228G>T (p.Thr76=) rs373586584
NM_000143.4(FH):c.229A>G (p.Met77Val)
NM_000143.4(FH):c.22C>G (p.Leu8Val) rs1660323820
NM_000143.4(FH):c.22C>T (p.Leu8Phe)
NM_000143.4(FH):c.232A>C (p.Asn78His) rs1558402209
NM_000143.4(FH):c.233A>G (p.Asn78Ser)
NM_000143.4(FH):c.234C>A (p.Asn78Lys) rs993218685
NM_000143.4(FH):c.237dup (p.Lys80Ter) rs1553341945
NM_000143.4(FH):c.239A>C (p.Lys80Thr) rs1660241142
NM_000143.4(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.4(FH):c.240G>A (p.Lys80=) rs1573888362
NM_000143.4(FH):c.240G>C (p.Lys80Asn) rs1573888362
NM_000143.4(FH):c.243T>A (p.Ile81=) rs2147925126
NM_000143.4(FH):c.243T>G (p.Ile81Met)
NM_000143.4(FH):c.244_245dup (p.Gly83fs)
NM_000143.4(FH):c.245G>A (p.Gly82Glu) rs1558402197
NM_000143.4(FH):c.248G>A (p.Gly83Asp)
NM_000143.4(FH):c.249T>A (p.Gly83=) rs2147925115
NM_000143.4(FH):c.251T>C (p.Val84Ala) rs878853692
NM_000143.4(FH):c.252G>A (p.Val84=) rs2147925108
NM_000143.4(FH):c.254C>A (p.Thr85Lys)
NM_000143.4(FH):c.254C>G (p.Thr85Arg) rs1324632356
NM_000143.4(FH):c.255A>G (p.Thr85=) rs2147925102
NM_000143.4(FH):c.260G>T (p.Arg87Leu) rs200007371
NM_000143.4(FH):c.262A>C (p.Met88Leu) rs1660240175
NM_000143.4(FH):c.263T>A (p.Met88Lys) rs763390436
NM_000143.4(FH):c.264G>C (p.Met88Ile) rs2147925082
NM_000143.4(FH):c.265C>T (p.Pro89Ser)
NM_000143.4(FH):c.266_267+1delinsATT
NM_000143.4(FH):c.267+10A>G
NM_000143.4(FH):c.267+13dup
NM_000143.4(FH):c.267+14G>A
NM_000143.4(FH):c.267+1G>A rs878853691
NM_000143.4(FH):c.267+1G>C rs878853691
NM_000143.4(FH):c.267+1G>T rs878853691
NM_000143.4(FH):c.267+1_267+10del rs1060499629
NM_000143.4(FH):c.267+3_267+4del
NM_000143.4(FH):c.267+4A>C
NM_000143.4(FH):c.267+7G>A rs1660239794
NM_000143.4(FH):c.267A>C (p.Pro89=) rs1060500897
NM_000143.4(FH):c.268-15del rs1343862298
NM_000143.4(FH):c.268-16T>G
NM_000143.4(FH):c.268-18T>A rs1430617071
NM_000143.4(FH):c.268-21_268-8del rs2147923124
NM_000143.4(FH):c.268-2A>G rs1064793741
NM_000143.4(FH):c.268-3_268-2del rs2147923117
NM_000143.4(FH):c.268-3del
NM_000143.4(FH):c.268-6T>A
NM_000143.4(FH):c.268-7_268-6del
NM_000143.4(FH):c.269C>T (p.Thr90Ile) rs1401508226
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup) rs1395036789
NM_000143.4(FH):c.270C>G (p.Thr90=) rs748852152
NM_000143.4(FH):c.272C>T (p.Pro91Leu) rs1455612736
NM_000143.4(FH):c.274G>T (p.Val92Phe)
NM_000143.4(FH):c.276T>C (p.Val92=)
NM_000143.4(FH):c.278T>C (p.Ile93Thr) rs1660148233
NM_000143.4(FH):c.284C>T (p.Ala95Val) rs1660148115
NM_000143.4(FH):c.288T>C (p.Phe96=) rs747348623
NM_000143.4(FH):c.288del (p.Phe96fs) rs2147923081
NM_000143.4(FH):c.289G>A (p.Gly97Ser)
NM_000143.4(FH):c.289G>C (p.Gly97Arg) rs1660147877
NM_000143.4(FH):c.291C>T (p.Gly97=)
NM_000143.4(FH):c.292_308del (p.Ile98fs)
NM_000143.4(FH):c.295_301del (p.Leu99fs) rs863224017
NM_000143.4(FH):c.299A>T (p.Lys100Met)
NM_000143.4(FH):c.29_30del (p.Arg10fs) rs2147927054
NM_000143.4(FH):c.2T>A (p.Met1Lys) rs201261794
NM_000143.4(FH):c.2T>C (p.Met1Thr) rs201261794
NM_000143.4(FH):c.300G>A (p.Lys100=)
NM_000143.4(FH):c.301_319del (p.Arg101fs) rs1558401094
NM_000143.4(FH):c.302G>C (p.Arg101Pro) rs75086406
NM_000143.4(FH):c.303A>C (p.Arg101=)
NM_000143.4(FH):c.307G>A (p.Ala103Thr)
NM_000143.4(FH):c.308C>T (p.Ala103Val) rs1256116208
NM_000143.4(FH):c.309C>A (p.Ala103=) rs10926501
NM_000143.4(FH):c.310G>A (p.Ala104Thr) rs1303488878
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer) rs876658569
NM_000143.4(FH):c.317_318dup (p.Asn107Ter)
NM_000143.4(FH):c.318A>G (p.Val106=) rs2147923011
NM_000143.4(FH):c.318A>T (p.Val106=)
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.321C>G (p.Asn107Lys)
NM_000143.4(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000143.4(FH):c.326A>T (p.Asp109Val) rs1573886432
NM_000143.4(FH):c.32C>G (p.Ser11Trp)
NM_000143.4(FH):c.32C>T (p.Ser11Leu) rs1226883651
NM_000143.4(FH):c.32_69del (p.Ser11fs) rs2147926966
NM_000143.4(FH):c.335T>C (p.Leu112Pro)
NM_000143.4(FH):c.336T>C (p.Leu112=)
NM_000143.4(FH):c.338A>G (p.Asp113Gly)
NM_000143.4(FH):c.339T>A (p.Asp113Glu) rs1029743950
NM_000143.4(FH):c.33G>A (p.Ser11=) rs200542051
NM_000143.4(FH):c.33G>T (p.Ser11=) rs200542051
NM_000143.4(FH):c.344del (p.Lys115fs) rs1573886415
NM_000143.4(FH):c.345G>A (p.Lys115=)
NM_000143.4(FH):c.349G>C (p.Ala117Pro) rs886039363
NM_000143.4(FH):c.34C>A (p.Arg12Ser) rs199912971
NM_000143.4(FH):c.34C>G (p.Arg12Gly) rs199912971
NM_000143.4(FH):c.351T>G (p.Ala117=)
NM_000143.4(FH):c.353del (p.Asn118fs) rs1558401064
NM_000143.4(FH):c.354T>G (p.Asn118Lys) rs1465574376
NM_000143.4(FH):c.355G>A (p.Ala119Thr)
NM_000143.4(FH):c.355_356delinsTT (p.Ala119Leu)
NM_000143.4(FH):c.356C>A (p.Ala119Glu)
NM_000143.4(FH):c.356C>T (p.Ala119Val) rs1395827785
NM_000143.4(FH):c.357A>C (p.Ala119=) rs767209674
NM_000143.4(FH):c.358A>C (p.Ile120Leu) rs199641124
NM_000143.4(FH):c.35G>A (p.Arg12His) rs367826177
NM_000143.4(FH):c.361A>G (p.Met121Val)
NM_000143.4(FH):c.363G>C (p.Met121Ile)
NM_000143.4(FH):c.366G>A (p.Lys122=) rs1573886379
NM_000143.4(FH):c.36T>A (p.Arg12=) rs2147927029
NM_000143.4(FH):c.370G>A (p.Ala124Thr) rs1660143983
NM_000143.4(FH):c.370G>C (p.Ala124Pro) rs1660143983
NM_000143.4(FH):c.373G>C (p.Asp125His) rs2147922936
NM_000143.4(FH):c.376G>T (p.Glu126Ter) rs1660143834
NM_000143.4(FH):c.378+12T>C rs2147922909
NM_000143.4(FH):c.378+12del rs772858528
NM_000143.4(FH):c.378+14A>T
NM_000143.4(FH):c.378+16T>G
NM_000143.4(FH):c.378+17G>A rs1280427620
NM_000143.4(FH):c.378+19G>A
NM_000143.4(FH):c.378+1G>A rs1660143675
NM_000143.4(FH):c.378+4G>A rs2147922924
NM_000143.4(FH):c.378+5G>A rs1660143514
NM_000143.4(FH):c.378+6A>G rs1348359637
NM_000143.4(FH):c.378+7G>A rs1486097527
NM_000143.4(FH):c.378+8G>A rs1573886359
NM_000143.4(FH):c.378+8G>C rs1573886359
NM_000143.4(FH):c.379-12T>C
NM_000143.4(FH):c.379-13A>G
NM_000143.4(FH):c.379-16A>G
NM_000143.4(FH):c.379-16A>T rs2147922056
NM_000143.4(FH):c.379-17T>C
NM_000143.4(FH):c.379-17dup rs1205896768
NM_000143.4(FH):c.379-19T>C
NM_000143.4(FH):c.379-1G>A rs1553341623
NM_000143.4(FH):c.379-1G>C rs1553341623
NM_000143.4(FH):c.379-4G>A rs1660104141
NM_000143.4(FH):c.379-4G>T
NM_000143.4(FH):c.379-7dup rs761444069
NM_000143.4(FH):c.379G>A (p.Val127Ile)
NM_000143.4(FH):c.379G>T (p.Val127Leu) rs878853693
NM_000143.4(FH):c.37C>G (p.Pro13Ala) rs587778360
NM_000143.4(FH):c.37C>T (p.Pro13Ser) rs587778360
NM_000143.4(FH):c.37_92del (p.Pro13fs) rs2147926916
NM_000143.4(FH):c.382G>A (p.Ala128Thr) rs1553341620
NM_000143.4(FH):c.383C>T (p.Ala128Val)
NM_000143.4(FH):c.384T>C (p.Ala128=)
NM_000143.4(FH):c.389G>A (p.Gly130Asp)
NM_000143.4(FH):c.393A>G (p.Lys131=)
NM_000143.4(FH):c.393A>T (p.Lys131Asn) rs2147922022
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer) rs863223995
NM_000143.4(FH):c.39C>A (p.Pro13=) rs1060504077
NM_000143.4(FH):c.39C>G (p.Pro13=) rs1060504077
NM_000143.4(FH):c.3G>A (p.Met1Ile) rs564147469
NM_000143.4(FH):c.3G>C (p.Met1Ile) rs564147469
NM_000143.4(FH):c.402T>C (p.Asp134=)
NM_000143.4(FH):c.403C>T (p.His135Tyr) rs1553341617
NM_000143.4(FH):c.404A>C (p.His135Pro) rs786202833
NM_000143.4(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.4(FH):c.409C>T (p.Pro137Ser)
NM_000143.4(FH):c.40C>G (p.Leu14Val)
NM_000143.4(FH):c.40del (p.Leu14fs)
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.4(FH):c.410C>G (p.Pro137Arg) rs1660101853
NM_000143.4(FH):c.410C>T (p.Pro137Leu) rs1660101853
NM_000143.4(FH):c.411T>A (p.Pro137=)
NM_000143.4(FH):c.414C>G (p.Leu138=) rs540968725
NM_000143.4(FH):c.415G>C (p.Val139Leu) rs200343823
NM_000143.4(FH):c.416T>G (p.Val139Gly) rs1573885528
NM_000143.4(FH):c.418G>C (p.Val140Leu) rs746195750
NM_000143.4(FH):c.418del (p.Val140fs) rs1573885519
NM_000143.4(FH):c.421del (p.Trp141fs)
NM_000143.4(FH):c.424C>T (p.Gln142Ter) rs1355199594
NM_000143.4(FH):c.425A>G (p.Gln142Arg) rs1573885503
NM_000143.4(FH):c.426G>A (p.Gln142=) rs1660100845
NM_000143.4(FH):c.42C>T (p.Leu14=) rs1660322230
NM_000143.4(FH):c.431G>T (p.Gly144Val) rs1057521425
NM_000143.4(FH):c.431del (p.Gly144fs) rs1660100641
NM_000143.4(FH):c.434C>G (p.Ser145Ter) rs1573885482
NM_000143.4(FH):c.434C>T (p.Ser145Leu) rs1573885482
NM_000143.4(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.4(FH):c.438A>T (p.Gly146=) rs2147921924
NM_000143.4(FH):c.439A>G (p.Thr147Ala) rs863223983
NM_000143.4(FH):c.439dup (p.Thr147fs) rs1060499633
NM_000143.4(FH):c.43G>A (p.Val15Met)
NM_000143.4(FH):c.43G>C (p.Val15Leu)
NM_000143.4(FH):c.442C>T (p.Gln148Ter) rs1558400571
NM_000143.4(FH):c.443dup (p.Thr149fs) rs1553341610
NM_000143.4(FH):c.446C>A (p.Thr149Lys)
NM_000143.4(FH):c.448A>C (p.Asn150His) rs1660099527
NM_000143.4(FH):c.448A>G (p.Asn150Asp) rs1660099527
NM_000143.4(FH):c.44T>C (p.Val15Ala) rs1660322018
NM_000143.4(FH):c.450T>A (p.Asn150Lys) rs1131691242
NM_000143.4(FH):c.452T>A (p.Met151Lys) rs1660099266
NM_000143.4(FH):c.459A>G (p.Val153=) rs1260492902
NM_000143.4(FH):c.462T>C (p.Asn154=) rs2147921891
NM_000143.4(FH):c.462T>G (p.Asn154Lys) rs2147921891
NM_000143.4(FH):c.463G>A (p.Glu155Lys)
NM_000143.4(FH):c.464A>T (p.Glu155Val) rs863224014
NM_000143.4(FH):c.469A>G (p.Ile157Val) rs778399986
NM_000143.4(FH):c.470T>C (p.Ile157Thr) rs2147921876
NM_000143.4(FH):c.473G>A (p.Ser158Asn) rs1060500902
NM_000143.4(FH):c.473G>T (p.Ser158Ile) rs1060500902
NM_000143.4(FH):c.473_474delinsAA (p.Ser158Lys)
NM_000143.4(FH):c.477T>C (p.Asn159=) rs372913738
NM_000143.4(FH):c.478A>G (p.Arg160Gly) rs878853694
NM_000143.4(FH):c.479G>C (p.Arg160Thr)
NM_000143.4(FH):c.47G>A (p.Arg16Gln)
NM_000143.4(FH):c.480A>G (p.Arg160=) rs2147921868
NM_000143.4(FH):c.480A>T (p.Arg160Ser)
NM_000143.4(FH):c.481G>A (p.Ala161Thr) rs1573885421
NM_000143.4(FH):c.481G>C (p.Ala161Pro)
NM_000143.4(FH):c.482C>T (p.Ala161Val) rs1307815197
NM_000143.4(FH):c.484A>G (p.Ile162Val) rs2147921864
NM_000143.4(FH):c.484del (p.Ile162fs) rs1660098180
NM_000143.4(FH):c.488A>G (p.Glu163Gly)
NM_000143.4(FH):c.48G>A (p.Arg16=) rs1468361143
NM_000143.4(FH):c.490A>G (p.Met164Val) rs1660097952
NM_000143.4(FH):c.490del (p.Met164fs)
NM_000143.4(FH):c.491T>G (p.Met164Arg)
NM_000143.4(FH):c.494T>G (p.Leu165Ter)
NM_000143.4(FH):c.495AGG[1] (p.Gly167del) rs1660097679
NM_000143.4(FH):c.496G>A (p.Gly166Arg) rs1660097824
NM_000143.4(FH):c.497G>A (p.Gly166Glu) rs746612719
NM_000143.4(FH):c.498A>G (p.Gly166=) rs2147921845
NM_000143.4(FH):c.499G>T (p.Gly167Cys)
NM_000143.4(FH):c.4T>A (p.Tyr2Asn) rs112335468
NM_000143.4(FH):c.500G>T (p.Gly167Val) rs1558400520
NM_000143.4(FH):c.501T>C (p.Gly167=)
NM_000143.4(FH):c.502G>C (p.Glu168Gln) rs1573885382
NM_000143.4(FH):c.503A>T (p.Glu168Val)
NM_000143.4(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.4(FH):c.507T>G (p.Leu169=)
NM_000143.4(FH):c.509G>A (p.Gly170Asp) rs1573885360
NM_000143.4(FH):c.512G>A (p.Ser171Asn) rs1157774951
NM_000143.4(FH):c.513C>G (p.Ser171Arg) rs1660097007
NM_000143.4(FH):c.515A>G (p.Lys172Arg) rs2147921824
NM_000143.4(FH):c.517A>T (p.Ile173Leu) rs1558400504
NM_000143.4(FH):c.51T>C (p.Ala17=)
NM_000143.4(FH):c.521C>A (p.Pro174His) rs199822819
NM_000143.4(FH):c.522T>C (p.Pro174=) rs1365119112
NM_000143.4(FH):c.525G>A (p.Val175=) rs1553341592
NM_000143.4(FH):c.526C>G (p.His176Asp)
NM_000143.4(FH):c.526C>T (p.His176Tyr)
NM_000143.4(FH):c.527A>G (p.His176Arg) rs1158759883
NM_000143.4(FH):c.527A>T (p.His176Leu) rs1158759883
NM_000143.4(FH):c.52C>G (p.Pro18Ala) rs1660321288
NM_000143.4(FH):c.530C>G (p.Pro177Arg) rs2147921795
NM_000143.4(FH):c.531C>G (p.Pro177=) rs202056137
NM_000143.4(FH):c.532_555+7del rs2147921728
NM_000143.4(FH):c.533A>G (p.Asn178Ser) rs2147921789
NM_000143.4(FH):c.534C>A (p.Asn178Lys) rs375878939
NM_000143.4(FH):c.535G>A (p.Asp179Asn) rs1553341588
NM_000143.4(FH):c.535G>T (p.Asp179Tyr) rs1553341588
NM_000143.4(FH):c.536A>G (p.Asp179Gly) rs2147921775
NM_000143.4(FH):c.538C>T (p.His180Tyr)
NM_000143.4(FH):c.539A>G (p.His180Arg) rs863224015
NM_000143.4(FH):c.539A>T (p.His180Leu) rs863224015
NM_000143.4(FH):c.541G>A (p.Val181Ile)
NM_000143.4(FH):c.543T>C (p.Val181=) rs2147921766
NM_000143.4(FH):c.545A>G (p.Asn182Ser) rs1558400468
NM_000143.4(FH):c.546T>C (p.Asn182=)
NM_000143.4(FH):c.547A>G (p.Lys183Glu) rs2147921763
NM_000143.4(FH):c.54A>T (p.Pro18=) rs1660321087
NM_000143.4(FH):c.551G>C (p.Ser184Thr) rs750316531
NM_000143.4(FH):c.552C>G (p.Ser184Arg) rs377660762
NM_000143.4(FH):c.554A>C (p.Gln185Pro) rs779707997
NM_000143.4(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.4(FH):c.555+10T>C
NM_000143.4(FH):c.555+14_555+16del
NM_000143.4(FH):c.555+19C>A
NM_000143.4(FH):c.555+1G>A rs1375252870
NM_000143.4(FH):c.555+20T>A
NM_000143.4(FH):c.555+20T>C rs200874899
NM_000143.4(FH):c.555+22dup rs569920379
NM_000143.4(FH):c.555+3C>A rs1660094654
NM_000143.4(FH):c.555+3del rs1553341583
NM_000143.4(FH):c.555+4A>G rs776240700
NM_000143.4(FH):c.555+5G>C rs1553341582
NM_000143.4(FH):c.555+5G>T
NM_000143.4(FH):c.555+7A>G
NM_000143.4(FH):c.555+7_555+8delinsTA
NM_000143.4(FH):c.555+8T>A
NM_000143.4(FH):c.555+9G>A
NM_000143.4(FH):c.555+9G>T rs2147921724
NM_000143.4(FH):c.555+9_555+10insA
NM_000143.4(FH):c.555+9del
NM_000143.4(FH):c.555G>T (p.Gln185His) rs1660094798
NM_000143.4(FH):c.556-17T>C
NM_000143.4(FH):c.556-18T>C
NM_000143.4(FH):c.556-19T>G
NM_000143.4(FH):c.556-1G>C rs794727698
NM_000143.4(FH):c.556-2A>C
NM_000143.4(FH):c.556-2A>G rs750273092
NM_000143.4(FH):c.556-2A>T rs750273092
NM_000143.4(FH):c.556-3_562del rs1659999374
NM_000143.4(FH):c.556-5A>C
NM_000143.4(FH):c.556-6C>G
NM_000143.4(FH):c.556-6C>T rs1278315587
NM_000143.4(FH):c.556-7C>T rs780483420
NM_000143.4(FH):c.556-9T>C
NM_000143.4(FH):c.556-9_556-2del
NM_000143.4(FH):c.557G>A (p.Ser186Asn) rs587782618
NM_000143.4(FH):c.557del (p.Ser186fs) rs1659999781
NM_000143.4(FH):c.558C>T (p.Ser186=) rs2147919721
NM_000143.4(FH):c.55G>A (p.Ala19Thr)
NM_000143.4(FH):c.560C>A (p.Ser187Ter) rs398123166
NM_000143.4(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.4(FH):c.563A>T (p.Asn188Ile) rs2147919711
NM_000143.4(FH):c.564_587delinsG (p.Asn188fs) rs1573883310
NM_000143.4(FH):c.566A>T (p.Asp189Val) rs1064793125
NM_000143.4(FH):c.567T>C (p.Asp189=) rs2147919705
NM_000143.4(FH):c.568A>G (p.Thr190Ala)
NM_000143.4(FH):c.568_569del (p.Thr190fs) rs1553341367
NM_000143.4(FH):c.569C>T (p.Thr190Ile) rs2147919703
NM_000143.4(FH):c.570T>A (p.Thr190=)
NM_000143.4(FH):c.574C>G (p.Pro192Ala) rs1573883345
NM_000143.4(FH):c.574C>T (p.Pro192Ser) rs1573883345
NM_000143.4(FH):c.575C>T (p.Pro192Leu) rs1573883342
NM_000143.4(FH):c.576C>A (p.Pro192=) rs1413797947
NM_000143.4(FH):c.576C>G (p.Pro192=) rs1413797947
NM_000143.4(FH):c.577A>G (p.Thr193Ala) rs2147919685
NM_000143.4(FH):c.578C>T (p.Thr193Ile) rs1573883332
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del) rs1060499635
NM_000143.4(FH):c.57C>A (p.Ala19=) rs1469317078
NM_000143.4(FH):c.57C>G (p.Ala19=)
NM_000143.4(FH):c.57C>T (p.Ala19=) rs1469317078
NM_000143.4(FH):c.580G>T (p.Ala194Ser) rs587782215
NM_000143.4(FH):c.581C>A (p.Ala194Glu) rs1558399442
NM_000143.4(FH):c.582A>C (p.Ala194=)
NM_000143.4(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000143.4(FH):c.586C>T (p.His196Tyr) rs1553341363
NM_000143.4(FH):c.589A>C (p.Ile197Leu) rs201764931
NM_000143.4(FH):c.589A>T (p.Ile197Phe) rs201764931
NM_000143.4(FH):c.58G>C (p.Ala20Pro)
NM_000143.4(FH):c.58G>T (p.Ala20Ser)
NM_000143.4(FH):c.591TGC[2] (p.Ala200del) rs786202907
NM_000143.4(FH):c.593C>G (p.Ala198Gly) rs1414507017
NM_000143.4(FH):c.597del (p.Ala200fs)
NM_000143.4(FH):c.598G>A (p.Ala200Thr)
NM_000143.4(FH):c.599C>T (p.Ala200Val) rs1659997677
NM_000143.4(FH):c.59C>G (p.Ala20Gly)
NM_000143.4(FH):c.59C>T (p.Ala20Val) rs1573889953
NM_000143.4(FH):c.5dup (p.Tyr2Ter) rs1573890070
NM_000143.4(FH):c.600A>C (p.Ala200=) rs1490011492
NM_000143.4(FH):c.600A>G (p.Ala200=) rs1490011492
NM_000143.4(FH):c.601A>G (p.Ile201Val) rs1659997422
NM_000143.4(FH):c.602T>C (p.Ile201Thr) rs1476664795
NM_000143.4(FH):c.603A>G (p.Ile201Met) rs2147919643
NM_000143.4(FH):c.604G>A (p.Glu202Lys)
NM_000143.4(FH):c.607G>A (p.Val203Ile)
NM_000143.4(FH):c.607G>T (p.Val203Phe)
NM_000143.4(FH):c.608T>G (p.Val203Gly) rs200796921
NM_000143.4(FH):c.609T>C (p.Val203=)
NM_000143.4(FH):c.609T>G (p.Val203=) rs2147919632
NM_000143.4(FH):c.60A>G (p.Ala20=)
NM_000143.4(FH):c.610C>A (p.His204Asn) rs863223996
NM_000143.4(FH):c.611A>G (p.His204Arg) rs1060500898
NM_000143.4(FH):c.612T>A (p.His204Gln) rs1424868653
NM_000143.4(FH):c.612T>G (p.His204Gln) rs1424868653
NM_000143.4(FH):c.616G>T (p.Val206Leu) rs763183520
NM_000143.4(FH):c.618A>C (p.Val206=) rs2147919618
NM_000143.4(FH):c.618A>G (p.Val206=)
NM_000143.4(FH):c.619C>T (p.Leu207=) rs1659995971
NM_000143.4(FH):c.61G>C (p.Ala21Pro)
NM_000143.4(FH):c.620T>C (p.Leu207Pro) rs1060500894
NM_000143.4(FH):c.621G>A (p.Leu207=) rs1210947784
NM_000143.4(FH):c.622T>G (p.Leu208Val)
NM_000143.4(FH):c.623T>C (p.Leu208Ser)
NM_000143.4(FH):c.62C>A (p.Ala21Asp)
NM_000143.4(FH):c.62C>T (p.Ala21Val) rs1131691251
NM_000143.4(FH):c.633A>G (p.Leu211=) rs2147919592
NM_000143.4(FH):c.634C>G (p.Gln212Glu) rs1553341353
NM_000143.4(FH):c.634C>T (p.Gln212Ter) rs1553341353
NM_000143.4(FH):c.634del (p.Gln212fs) rs2147919590
NM_000143.4(FH):c.636G>A (p.Gln212=) rs1270956851
NM_000143.4(FH):c.636G>C (p.Gln212His) rs1270956851
NM_000143.4(FH):c.637A>G (p.Lys213Glu)
NM_000143.4(FH):c.638A>G (p.Lys213Arg) rs1659995341
NM_000143.4(FH):c.640_641insACAGAAG (p.Leu214fs)
NM_000143.4(FH):c.644A>G (p.His215Arg)
NM_000143.4(FH):c.644A>T (p.His215Leu) rs770141324
NM_000143.4(FH):c.647A>C (p.Asp216Ala)
NM_000143.4(FH):c.647A>T (p.Asp216Val) rs1553341348
NM_000143.4(FH):c.648T>G (p.Asp216Glu) rs199536615
NM_000143.4(FH):c.649G>T (p.Ala217Ser)
NM_000143.4(FH):c.650C>T (p.Ala217Val)
NM_000143.4(FH):c.651T>C (p.Ala217=)
NM_000143.4(FH):c.653T>C (p.Leu218Pro) rs1553341345
NM_000143.4(FH):c.654T>G (p.Leu218=)
NM_000143.4(FH):c.657T>G (p.Asp219Glu) rs995196012
NM_000143.4(FH):c.658_659delinsTT (p.Ala220Leu) rs1060500893
NM_000143.4(FH):c.659C>G (p.Ala220Gly) rs758678272
NM_000143.4(FH):c.65T>A (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.65T>C (p.Leu22Ser) rs1031919395
NM_000143.4(FH):c.661A>G (p.Lys221Glu)
NM_000143.4(FH):c.662A>T (p.Lys221Ile) rs2147919540
NM_000143.4(FH):c.667A>G (p.Lys223Glu)
NM_000143.4(FH):c.667A>T (p.Lys223Ter) rs2147919525
NM_000143.4(FH):c.668A>C (p.Lys223Thr) rs1064795294
NM_000143.4(FH):c.668A>G (p.Lys223Arg) rs1064795294
NM_000143.4(FH):c.668A>T (p.Lys223Ile) rs1064795294
NM_000143.4(FH):c.668_669del (p.Lys223fs) rs886039364
NM_000143.4(FH):c.669A>G (p.Lys223=) rs1573883183
NM_000143.4(FH):c.66A>C (p.Leu22Phe)
NM_000143.4(FH):c.670G>A (p.Glu224Lys) rs1060500905
NM_000143.4(FH):c.671_672del (p.Glu224fs) rs780001199
NM_000143.4(FH):c.672G>C (p.Glu224Asp)
NM_000143.4(FH):c.674T>C (p.Phe225Ser) rs149651434
NM_000143.4(FH):c.674_675del (p.Phe225fs) rs1553341337
NM_000143.4(FH):c.675T>A (p.Phe225Leu) rs1270246282
NM_000143.4(FH):c.675del (p.Phe225fs) rs1553341337
NM_000143.4(FH):c.677C>A (p.Ala226Glu) rs778786425
NM_000143.4(FH):c.677C>T (p.Ala226Val)
NM_000143.4(FH):c.678A>G (p.Ala226=) rs757078832
NM_000143.4(FH):c.679C>T (p.Gln227Ter) rs11545658
NM_000143.4(FH):c.67G>A (p.Ala23Thr) rs1573889943
NM_000143.4(FH):c.680A>G (p.Gln227Arg)
NM_000143.4(FH):c.683T>C (p.Ile228Thr) rs753773918
NM_000143.4(FH):c.687C>G (p.Ile229Met) rs755587163
NM_000143.4(FH):c.687C>T (p.Ile229=)
NM_000143.4(FH):c.688A>C (p.Lys230Gln) rs863223967
NM_000143.4(FH):c.688A>G (p.Lys230Glu) rs863223967
NM_000143.4(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.4(FH):c.68C>T (p.Ala23Val) rs2147926968
NM_000143.4(FH):c.690G>C (p.Lys230Asn) rs2147919465
NM_000143.4(FH):c.691A>C (p.Ile231Leu) rs1659991322
NM_000143.4(FH):c.691A>G (p.Ile231Val) rs1659991322
NM_000143.4(FH):c.692T>C (p.Ile231Thr) rs1335587342
NM_000143.4(FH):c.697C>G (p.Arg233Gly) rs587781682
NM_000143.4(FH):c.698G>C (p.Arg233Pro) rs121913123
NM_000143.4(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000143.4(FH):c.6C>G (p.Tyr2Ter) rs199971078
NM_000143.4(FH):c.700A>C (p.Thr234Pro) rs372505976
NM_000143.4(FH):c.700A>T (p.Thr234Ser)
NM_000143.4(FH):c.701C>A (p.Thr234Asn)
NM_000143.4(FH):c.701C>T (p.Thr234Ile) rs878853695
NM_000143.4(FH):c.702T>A (p.Thr234=)
NM_000143.4(FH):c.703C>A (p.His235Asn)
NM_000143.4(FH):c.703C>G (p.His235Asp) rs863223968
NM_000143.4(FH):c.703C>T (p.His235Tyr) rs863223968
NM_000143.4(FH):c.704A>G (p.His235Arg) rs1659990191
NM_000143.4(FH):c.705T>C (p.His235=) rs919993170
NM_000143.4(FH):c.705T>G (p.His235Gln) rs919993170
NM_000143.4(FH):c.706A>G (p.Thr236Ala) rs1064793126
NM_000143.4(FH):c.707C>T (p.Thr236Ile) rs773382103
NM_000143.4(FH):c.708T>G (p.Thr236=)
NM_000143.4(FH):c.70T>A (p.Ser24Thr)
NM_000143.4(FH):c.710A>G (p.Gln237Arg)
NM_000143.4(FH):c.711G>A (p.Gln237=) rs1659989732
NM_000143.4(FH):c.712G>A (p.Asp238Asn) rs1659989676
NM_000143.4(FH):c.712G>C (p.Asp238His)
NM_000143.4(FH):c.714T>C (p.Asp238=) rs2147919423
NM_000143.4(FH):c.718G>C (p.Val240Leu) rs1291740270
NM_000143.4(FH):c.718G>T (p.Val240Phe)
NM_000143.4(FH):c.721C>G (p.Pro241Ala) rs1349419396
NM_000143.4(FH):c.722C>T (p.Pro241Leu) rs1553341319
NM_000143.4(FH):c.722_738+3del rs1064792900
NM_000143.4(FH):c.723A>G (p.Pro241=) rs2147919405
NM_000143.4(FH):c.723_724del (p.Leu242fs) rs2147919403
NM_000143.4(FH):c.727dup (p.Thr243fs)
NM_000143.4(FH):c.72G>C (p.Ser24=)
NM_000143.4(FH):c.72G>T (p.Ser24=)
NM_000143.4(FH):c.730C>T (p.Leu244Phe)
NM_000143.4(FH):c.731T>C (p.Leu244Pro) rs1060499636
NM_000143.4(FH):c.731T>G (p.Leu244Arg) rs1060499636
NM_000143.4(FH):c.732T>C (p.Leu244=) rs1277279137
NM_000143.4(FH):c.733G>A (p.Gly245Arg) rs1287444534
NM_000143.4(FH):c.734_735del (p.Gly245fs) rs2147919385
NM_000143.4(FH):c.735G>C (p.Gly245=) rs1448288377
NM_000143.4(FH):c.735_736delinsTT (p.Gln246Ter) rs2147919380
NM_000143.4(FH):c.736C>T (p.Gln246Ter) rs863223998
NM_000143.4(FH):c.737del (p.Gln246fs) rs727503928
NM_000143.4(FH):c.738+11T>C
NM_000143.4(FH):c.738+13del
NM_000143.4(FH):c.738+15C>T
NM_000143.4(FH):c.738+17A>G rs2147919358
NM_000143.4(FH):c.738+1G>A rs1659988368
NM_000143.4(FH):c.738+1G>C
NM_000143.4(FH):c.738+1G>T
NM_000143.4(FH):c.738+20T>C
NM_000143.4(FH):c.738+2T>C rs1060500901
NM_000143.4(FH):c.738+3A>G rs1659988181
NM_000143.4(FH):c.738+5A>G rs1258289679
NM_000143.4(FH):c.738+7G>C
NM_000143.4(FH):c.738+9G>A rs1443246780
NM_000143.4(FH):c.738+9G>T rs1443246780
NM_000143.4(FH):c.738G>A (p.Gln246=)
NM_000143.4(FH):c.738G>C (p.Gln246His) rs2147919372
NM_000143.4(FH):c.739-10T>G rs201971572
NM_000143.4(FH):c.739-12T>C
NM_000143.4(FH):c.739-12T>G rs2147917795
NM_000143.4(FH):c.739-14del
NM_000143.4(FH):c.739-17TTTTC[2] rs745617145
NM_000143.4(FH):c.739-1G>A
NM_000143.4(FH):c.739-200G>A rs137943762
NM_000143.4(FH):c.739-2A>C rs1553341174
NM_000143.4(FH):c.739-2A>G rs1553341174
NM_000143.4(FH):c.739-5T>A
NM_000143.4(FH):c.739-9T>C rs779074287
NM_000143.4(FH):c.739G>T (p.Glu247Ter) rs1131691243
NM_000143.4(FH):c.73G>C (p.Ala25Pro)
NM_000143.4(FH):c.741A>G (p.Glu247=) rs2147917775
NM_000143.4(FH):c.744T>C (p.Phe248=) rs200094834
NM_000143.4(FH):c.747T>A (p.Ser249Arg)
NM_000143.4(FH):c.748G>C (p.Gly250Arg) rs2147917765
NM_000143.4(FH):c.749G>C (p.Gly250Ala)
NM_000143.4(FH):c.749G>T (p.Gly250Val) rs951611697
NM_000143.4(FH):c.74C>T (p.Ala25Val) rs1573889933
NM_000143.4(FH):c.750T>C (p.Gly250=)
NM_000143.4(FH):c.754G>A (p.Val252Ile) rs1353871297
NM_000143.4(FH):c.760C>T (p.Gln254Ter) rs398123167
NM_000143.4(FH):c.763G>T (p.Val255Leu)
NM_000143.4(FH):c.767A>C (p.Lys256Thr) rs978988174
NM_000143.4(FH):c.767A>G (p.Lys256Arg)
NM_000143.4(FH):c.768A>G (p.Lys256=)
NM_000143.4(FH):c.771T>G (p.Tyr257Ter)
NM_000143.4(FH):c.774A>G (p.Ala258=) rs2147917743
NM_000143.4(FH):c.774A>T (p.Ala258=) rs2147917743
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.4(FH):c.775A>C (p.Met259Leu) rs1343775223
NM_000143.4(FH):c.777G>A (p.Met259Ile) rs1044975651
NM_000143.4(FH):c.777_779del (p.Met259_Thr260delinsIle)
NM_000143.4(FH):c.779C>G (p.Thr260Arg) rs1659924700
NM_000143.4(FH):c.780_781del (p.Arg261fs) rs1659924638
NM_000143.4(FH):c.782G>T (p.Arg261Ile) rs61736558
NM_000143.4(FH):c.783A>G (p.Arg261=) rs1573881721
NM_000143.4(FH):c.784A>C (p.Ile262Leu) rs199829765
NM_000143.4(FH):c.785T>G (p.Ile262Arg) rs786203177
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.4(FH):c.78C>T (p.Pro26=) rs1029677665
NM_000143.4(FH):c.790G>C (p.Ala264Pro)
NM_000143.4(FH):c.791C>G (p.Ala264Gly)
NM_000143.4(FH):c.791C>T (p.Ala264Val)
NM_000143.4(FH):c.793G>C (p.Ala265Pro)
NM_000143.4(FH):c.793G>T (p.Ala265Ser)
NM_000143.4(FH):c.795C>T (p.Ala265=) rs2147917699
NM_000143.4(FH):c.796A>G (p.Met266Val)
NM_000143.4(FH):c.796A>T (p.Met266Leu)
NM_000143.4(FH):c.797dup (p.Met266fs) rs863223981
NM_000143.4(FH):c.7C>A (p.Arg3=)
NM_000143.4(FH):c.7C>T (p.Arg3Ter) rs202166344
NM_000143.4(FH):c.801A>G (p.Pro267=)
NM_000143.4(FH):c.802A>G (p.Arg268Gly) rs2147917678
NM_000143.4(FH):c.803G>T (p.Arg268Ile) rs1659923371
NM_000143.4(FH):c.805del (p.Ile269fs) rs1131691234
NM_000143.4(FH):c.807C>A (p.Ile269=) rs2147917660
NM_000143.4(FH):c.807C>G (p.Ile269Met)
NM_000143.4(FH):c.807C>T (p.Ile269=) rs2147917660
NM_000143.4(FH):c.808T>C (p.Tyr270His)
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer) rs1553341163
NM_000143.4(FH):c.810T>C (p.Tyr270=)
NM_000143.4(FH):c.814C>A (p.Leu272Ile) rs779019570
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del) rs863223985
NM_000143.4(FH):c.81delinsAT (p.Leu28fs) rs1553342155
NM_000143.4(FH):c.822dup (p.Gly275fs) rs2147917619
NM_000143.4(FH):c.823G>A (p.Gly275Arg) rs1060499639
NM_000143.4(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.4(FH):c.823G>T (p.Gly275Ter) rs1060499639
NM_000143.4(FH):c.824_827dup (p.Thr277fs) rs1659922131
NM_000143.4(FH):c.827G>A (p.Gly276Asp) rs2147917609
NM_000143.4(FH):c.831T>C (p.Thr277=) rs113349873
NM_000143.4(FH):c.838G>A (p.Gly280Ser) rs1659921742
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.83T>G (p.Leu28Trp)
NM_000143.4(FH):c.842C>T (p.Thr281Ile) rs1573881633
NM_000143.4(FH):c.844G>C (p.Gly282Arg) rs1573881629
NM_000143.4(FH):c.845G>T (p.Gly282Val) rs935002190
NM_000143.4(FH):c.846T>C (p.Gly282=) rs1474982294
NM_000143.4(FH):c.848T>C (p.Leu283Ser) rs1659921346
NM_000143.4(FH):c.84_85delinsTT (p.Leu28_Gly29delinsPheCys)
NM_000143.4(FH):c.850A>G (p.Asn284Asp)
NM_000143.4(FH):c.852T>C (p.Asn284=) rs759596203
NM_000143.4(FH):c.853A>T (p.Thr285Ser) rs200791185
NM_000143.4(FH):c.855T>C (p.Thr285=) rs1573881600
NM_000143.4(FH):c.856A>G (p.Arg286Gly)
NM_000143.4(FH):c.860T>C (p.Ile287Thr)
NM_000143.4(FH):c.861T>A (p.Ile287=)
NM_000143.4(FH):c.864C>T (p.Gly288=)
NM_000143.4(FH):c.866T>C (p.Phe289Ser)
NM_000143.4(FH):c.870A>G (p.Ala290=)
NM_000143.4(FH):c.872A>G (p.Glu291Gly) rs2147917541
NM_000143.4(FH):c.874A>C (p.Lys292Gln) rs771087739
NM_000143.4(FH):c.874A>G (p.Lys292Glu)
NM_000143.4(FH):c.876G>T (p.Lys292Asn) rs2147917537
NM_000143.4(FH):c.877G>A (p.Val293Ile) rs749029092
NM_000143.4(FH):c.879del (p.Ala294fs) rs1131691622
NM_000143.4(FH):c.87_89del (p.Gly30del) rs752879506
NM_000143.4(FH):c.880G>A (p.Ala294Thr) rs1659920259
NM_000143.4(FH):c.885A>G (p.Ala295=) rs199635833
NM_000143.4(FH):c.886A>G (p.Lys296Glu)
NM_000143.4(FH):c.887A>G (p.Lys296Arg) rs933479705
NM_000143.4(FH):c.887_888del (p.Lys296fs) rs2147917520
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.893C>G (p.Ala298Gly) rs1573881563
NM_000143.4(FH):c.893C>T (p.Ala298Val)
NM_000143.4(FH):c.893_904+7del rs1573881533
NM_000143.4(FH):c.896C>T (p.Ala299Val) rs2147917505
NM_000143.4(FH):c.897A>G (p.Ala299=) rs1553341151
NM_000143.4(FH):c.89G>A (p.Gly30Asp)
NM_000143.4(FH):c.8G>A (p.Arg3Gln)
NM_000143.4(FH):c.8G>C (p.Arg3Pro) rs1573890051
NM_000143.4(FH):c.900T>A (p.Leu300=) rs1659919363
NM_000143.4(FH):c.900T>C (p.Leu300=) rs1659919363
NM_000143.4(FH):c.901A>G (p.Thr301Ala) rs1659918863
NM_000143.4(FH):c.901A>T (p.Thr301Ser)
NM_000143.4(FH):c.903A>C (p.Thr301=) rs1659918712
NM_000143.4(FH):c.904+11A>C rs2147917478
NM_000143.4(FH):c.904+11A>G
NM_000143.4(FH):c.904+12C>A rs781047980
NM_000143.4(FH):c.904+14T>C
NM_000143.4(FH):c.904+17A>C
NM_000143.4(FH):c.904+18T>A
NM_000143.4(FH):c.904+1G>A rs1553341148
NM_000143.4(FH):c.904+1G>T rs1553341148
NM_000143.4(FH):c.904+20A>G
NM_000143.4(FH):c.904+2_904+3delinsGG
NM_000143.4(FH):c.904+2dup rs1573881536
NM_000143.4(FH):c.904+5G>A
NM_000143.4(FH):c.904+9T>A rs1467613193
NM_000143.4(FH):c.904+9T>G rs1467613193
NM_000143.4(FH):c.904G>A (p.Gly302Ser) rs200412958
NM_000143.4(FH):c.904G>C (p.Gly302Arg)
NM_000143.4(FH):c.905-12T>A
NM_000143.4(FH):c.905-12del
NM_000143.4(FH):c.905-14_905-12del
NM_000143.4(FH):c.905-17A>G
NM_000143.4(FH):c.905-19A>T
NM_000143.4(FH):c.905-1G>A rs797044973
NM_000143.4(FH):c.905-20G>A
NM_000143.4(FH):c.905-2A>C
NM_000143.4(FH):c.905-3T>C rs1573880626
NM_000143.4(FH):c.905-3_905-2insATTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_000143.4(FH):c.905-5T>A rs886046318
NM_000143.4(FH):c.905-5T>C rs886046318
NM_000143.4(FH):c.905-5_905-4insAAAA
NM_000143.4(FH):c.905-6C>T rs2147916417
NM_000143.4(FH):c.905G>A (p.Gly302Asp) rs1162334354
NM_000143.4(FH):c.905G>C (p.Gly302Ala)
NM_000143.4(FH):c.906C>T (p.Gly302=) rs1573880617
NM_000143.4(FH):c.907T>C (p.Leu303=)
NM_000143.4(FH):c.907T>G (p.Leu303Val) rs1057523697
NM_000143.4(FH):c.907_910del (p.Pro304fs)
NM_000143.4(FH):c.909_910del (p.Leu303fs) rs2147916393
NM_000143.4(FH):c.910C>G (p.Pro304Ala)
NM_000143.4(FH):c.910C>T (p.Pro304Ser) rs1659857790
NM_000143.4(FH):c.911C>G (p.Pro304Arg) rs200491078
NM_000143.4(FH):c.912T>C (p.Pro304=) rs1573880603
NM_000143.4(FH):c.912T>G (p.Pro304=) rs1573880603
NM_000143.4(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.4(FH):c.915T>G (p.Phe305Leu) rs2147916371
NM_000143.4(FH):c.916G>A (p.Val306Ile) rs1659857390
NM_000143.4(FH):c.919del (p.Thr307fs) rs1553341049
NM_000143.4(FH):c.922G>A (p.Ala308Thr) rs121913118
NM_000143.4(FH):c.923C>T (p.Ala308Val)
NM_000143.4(FH):c.924T>G (p.Ala308=) rs2147916343
NM_000143.4(FH):c.927G>C (p.Pro309=)
NM_000143.4(FH):c.92C>A (p.Ala31Glu) rs876659347
NM_000143.4(FH):c.92C>T (p.Ala31Val) rs876659347
NM_000143.4(FH):c.933del (p.Lys311fs) rs2147916327
NM_000143.4(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.4(FH):c.934T>G (p.Phe312Val) rs863224000
NM_000143.4(FH):c.935T>C (p.Phe312Ser) rs1553341046
NM_000143.4(FH):c.935T>G (p.Phe312Cys) rs1553341046
NM_000143.4(FH):c.936T>C (p.Phe312=)
NM_000143.4(FH):c.936T>G (p.Phe312Leu) rs2147916319
NM_000143.4(FH):c.936del (p.Phe312fs) rs2147916324
NM_000143.4(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.4(FH):c.937G>T (p.Glu313Ter) rs863224001
NM_000143.4(FH):c.939del (p.Ala314fs)
NM_000143.4(FH):c.93G>T (p.Ala31=)
NM_000143.4(FH):c.940G>A (p.Ala314Thr)
NM_000143.4(FH):c.941C>G (p.Ala314Gly) rs1659856002
NM_000143.4(FH):c.942T>C (p.Ala314=)
NM_000143.4(FH):c.943C>G (p.Leu315Val) rs1573880536
NM_000143.4(FH):c.943C>T (p.Leu315=) rs1573880536
NM_000143.4(FH):c.944T>C (p.Leu315Pro) rs1573880531
NM_000143.4(FH):c.944_945del (p.Leu315fs) rs886042044
NM_000143.4(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.4(FH):c.947C>T (p.Ala316Val)
NM_000143.4(FH):c.94G>A (p.Ala32Thr) rs1371664717
NM_000143.4(FH):c.94G>C (p.Ala32Pro)
NM_000143.4(FH):c.94G>T (p.Ala32Ser) rs1371664717
NM_000143.4(FH):c.950C>T (p.Ala317Val) rs2147916281
NM_000143.4(FH):c.951T>C (p.Ala317=) rs1659855471
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.4(FH):c.953A>T (p.His318Leu) rs755449276
NM_000143.4(FH):c.955G>A (p.Asp319Asn)
NM_000143.4(FH):c.956A>G (p.Asp319Gly) rs1659855240
NM_000143.4(FH):c.956A>T (p.Asp319Val)
NM_000143.4(FH):c.958G>A (p.Ala320Thr)
NM_000143.4(FH):c.958G>C (p.Ala320Pro)
NM_000143.4(FH):c.958G>T (p.Ala320Ser) rs766441385
NM_000143.4(FH):c.95C>G (p.Ala32Gly) rs2147926910
NM_000143.4(FH):c.95C>T (p.Ala32Val) rs2147926910
NM_000143.4(FH):c.960T>G (p.Ala320=)
NM_000143.4(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.4(FH):c.967G>A (p.Glu323Lys) rs2147916256
NM_000143.4(FH):c.96C>G (p.Ala32=) rs750087000
NM_000143.4(FH):c.96C>T (p.Ala32=)
NM_000143.4(FH):c.973A>G (p.Ser325Gly)
NM_000143.4(FH):c.973A>T (p.Ser325Cys) rs201124581
NM_000143.4(FH):c.974G>A (p.Ser325Asn) rs1423324601
NM_000143.4(FH):c.976G>A (p.Gly326Arg) rs1553341038
NM_000143.4(FH):c.977G>A (p.Gly326Glu) rs1553341037
NM_000143.4(FH):c.979G>A (p.Ala327Thr) rs1333344957
NM_000143.4(FH):c.980C>T (p.Ala327Val) rs1659854224
NM_000143.4(FH):c.981C>T (p.Ala327=) rs1060504078
NM_000143.4(FH):c.982A>C (p.Met328Leu)
NM_000143.4(FH):c.982A>G (p.Met328Val) rs146816517
NM_000143.4(FH):c.983T>C (p.Met328Thr)
NM_000143.4(FH):c.983T>G (p.Met328Arg) rs2147916225
NM_000143.4(FH):c.985A>C (p.Asn329His)
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200
NM_000143.4(FH):c.988A>G (p.Thr330Ala) rs776313200
NM_000143.4(FH):c.989C>G (p.Thr330Ser) rs200028270
NM_000143.4(FH):c.989C>T (p.Thr330Ile) rs200028270
NM_000143.4(FH):c.990T>G (p.Thr330=) rs1659853439
NM_000143.4(FH):c.991A>G (p.Thr331Ala) rs1459131048
NM_000143.4(FH):c.991dup (p.Thr331fs) rs1553341034
NM_000143.4(FH):c.995C>T (p.Ala332Val)
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) rs1553341032
NM_000143.4(FH):c.999C>A (p.Cys333Ter) rs1553341031
NM_000143.4(FH):c.999C>T (p.Cys333=) rs1553341031
NM_000143.4(FH):c.99G>A (p.Val33=)

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