ClinVar Miner

List of variants in gene FH studied for Hereditary cancer-predisposing syndrome

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Gene type:
ClinVar version:
Total variants: 895
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_000143.4(FH):c.105G>A (p.Ser35=) rs181655698 0.00066
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NM_000143.4(FH):c.1299C>T (p.Asn433=) rs201994824 0.00047
NM_000143.4(FH):c.306G>A (p.Ala102=) rs142283468 0.00032
NM_000143.4(FH):c.4T>C (p.Tyr2His) rs112335468 0.00023
NM_000143.4(FH):c.50C>T (p.Ala17Val) rs111548093 0.00023
NM_000143.4(FH):c.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.122C>T (p.Ala41Val) rs201486221 0.00014
NM_000143.4(FH):c.6C>T (p.Tyr2=) rs199971078 0.00011
NM_000143.4(FH):c.217G>A (p.Val73Met) rs201878591 0.00010
NM_000143.4(FH):c.33G>C (p.Ser11=) rs200542051 0.00010
NM_000143.4(FH):c.120C>G (p.Asn40Lys) rs876658186 0.00006
NM_000143.4(FH):c.12A>G (p.Ala4=) rs201277370 0.00006
NM_000143.4(FH):c.259C>T (p.Arg87Cys) rs139642944 0.00006
NM_000143.4(FH):c.35G>T (p.Arg12Leu) rs367826177 0.00006
NM_000143.4(FH):c.552C>T (p.Ser184=) rs377660762 0.00006
NM_000143.4(FH):c.759A>G (p.Gln253=) rs147518314 0.00006
NM_000143.4(FH):c.957C>T (p.Asp319=) rs146751488 0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000143.4(FH):c.1314C>T (p.Ile438=) rs140873869 0.00005
NM_000143.4(FH):c.399T>C (p.Asn133=) rs376056309 0.00005
NM_000143.4(FH):c.63C>T (p.Ala21=) rs555404867 0.00005
NM_000143.4(FH):c.809A>G (p.Tyr270Cys) rs202060616 0.00005
NM_000143.4(FH):c.994G>A (p.Ala332Thr) rs1157768121 0.00005
NM_000143.4(FH):c.-3A>G rs202145941 0.00004
NM_000143.4(FH):c.1077T>A (p.Pro359=) rs750535216 0.00004
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.1482A>G (p.Ala494=) rs201559643 0.00004
NM_000143.4(FH):c.159A>G (p.Glu53=) rs202056884 0.00004
NM_000143.4(FH):c.302G>A (p.Arg101Gln) rs75086406 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000143.4(FH):c.435A>G (p.Ser145=) rs771373271 0.00004
NM_000143.4(FH):c.540T>C (p.His180=) rs766280573 0.00004
NM_000143.4(FH):c.556-4A>G rs370229813 0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr) rs587782215 0.00004
NM_000143.4(FH):c.917T>C (p.Val306Ala) rs147991516 0.00004
NM_000143.4(FH):c.1462G>A (p.Glu488Lys) rs201115573 0.00003
NM_000143.4(FH):c.207C>T (p.Gly69=) rs370392829 0.00003
NM_000143.4(FH):c.21C>T (p.Leu7=) rs1263147931 0.00003
NM_000143.4(FH):c.305C>T (p.Ala102Val) rs61753295 0.00003
NM_000143.4(FH):c.312T>C (p.Ala104=) rs1311053776 0.00003
NM_000143.4(FH):c.37C>A (p.Pro13Thr) rs587778360 0.00003
NM_000143.4(FH):c.40C>T (p.Leu14Phe) rs981562354 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.616G>A (p.Val206Ile) rs763183520 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000143.4(FH):c.1049G>A (p.Arg350Gln) rs749316923 0.00002
NM_000143.4(FH):c.1138A>G (p.Met380Val) rs587778362 0.00002
NM_000143.4(FH):c.116C>T (p.Pro39Leu) rs1415259326 0.00002
NM_000143.4(FH):c.1283T>C (p.Val428Ala) rs201644919 0.00002
NM_000143.4(FH):c.1428C>T (p.His476=) rs199887605 0.00002
NM_000143.4(FH):c.260G>A (p.Arg87His) rs200007371 0.00002
NM_000143.4(FH):c.270C>T (p.Thr90=) rs748852152 0.00002
NM_000143.4(FH):c.27G>A (p.Ala9=) rs983362570 0.00002
NM_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000143.4(FH):c.352A>G (p.Asn118Asp) rs200738857 0.00002
NM_000143.4(FH):c.358A>G (p.Ile120Val) rs199641124 0.00002
NM_000143.4(FH):c.65T>G (p.Leu22Ter) rs1031919395 0.00002
NM_000143.4(FH):c.664T>A (p.Ser222Thr) rs1448268784 0.00002
NM_000143.4(FH):c.702T>G (p.Thr234=) rs201083387 0.00002
NM_000143.4(FH):c.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.925C>T (p.Pro309Ser) rs368849989 0.00002
NM_000143.4(FH):c.926C>T (p.Pro309Leu) rs756528378 0.00002
NM_000143.4(FH):c.1003C>T (p.Leu335=) rs1203364199 0.00001
NM_000143.4(FH):c.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.1092A>G (p.Gly364=) rs1361977903 0.00001
NM_000143.4(FH):c.1128G>T (p.Gln376His) rs1467002768 0.00001
NM_000143.4(FH):c.1167G>A (p.Gly389=) rs778969674 0.00001
NM_000143.4(FH):c.1173T>C (p.His391=) rs199638673 0.00001
NM_000143.4(FH):c.1188C>T (p.Val396=) rs1202174276 0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg) rs863224007 0.00001
NM_000143.4(FH):c.1195A>G (p.Ser399Gly) rs1372936109 0.00001
NM_000143.4(FH):c.1199A>G (p.Asn400Ser) rs764430466 0.00001
NM_000143.4(FH):c.1204C>T (p.His402Tyr) rs760360724 0.00001
NM_000143.4(FH):c.1227G>A (p.Lys409=) rs774493741 0.00001
NM_000143.4(FH):c.1231A>G (p.Met411Val) rs201381362 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000143.4(FH):c.1259C>T (p.Ala420Val) rs766377516 0.00001
NM_000143.4(FH):c.127C>G (p.Arg43Gly) rs200496951 0.00001
NM_000143.4(FH):c.1293A>G (p.Thr431=) rs772800627 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000143.4(FH):c.1308G>A (p.Val436=) rs201535626 0.00001
NM_000143.4(FH):c.133-3T>C rs1553341989 0.00001
NM_000143.4(FH):c.1338C>T (p.Asn446=) rs113572177 0.00001
NM_000143.4(FH):c.1341G>A (p.Lys447=) rs748363858 0.00001
NM_000143.4(FH):c.1347G>C (p.Met449Ile) rs376502356 0.00001
NM_000143.4(FH):c.1391-4T>C rs760376174 0.00001
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys) rs863224010 0.00001
NM_000143.4(FH):c.1401G>A (p.Lys467=) rs1464951563 0.00001
NM_000143.4(FH):c.1408A>G (p.Lys470Glu) rs922905323 0.00001
NM_000143.4(FH):c.1426C>T (p.His476Tyr) rs1484545927 0.00001
NM_000143.4(FH):c.1433A>G (p.Asn478Ser) rs201886827 0.00001
NM_000143.4(FH):c.1434T>C (p.Asn478=) rs786202199 0.00001
NM_000143.4(FH):c.1443C>G (p.Thr481=) rs780200136 0.00001
NM_000143.4(FH):c.1447A>C (p.Lys483Gln) rs1017406473 0.00001
NM_000143.4(FH):c.1461C>T (p.Ile487=) rs377091029 0.00001
NM_000143.4(FH):c.1470C>T (p.Gly490=) rs137969374 0.00001
NM_000143.4(FH):c.1471T>C (p.Tyr491His) rs749713004 0.00001
NM_000143.4(FH):c.1472A>G (p.Tyr491Cys) rs773801940 0.00001
NM_000143.4(FH):c.1477A>G (p.Thr493Ala) rs777256203 0.00001
NM_000143.4(FH):c.1479A>G (p.Thr493=) rs755633330 0.00001
NM_000143.4(FH):c.1494C>T (p.Asp498=) rs199949526 0.00001
NM_000143.4(FH):c.1501G>A (p.Val501Ile) rs201893992 0.00001
NM_000143.4(FH):c.1503A>G (p.Val501=) rs1553340502 0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.153G>A (p.Arg51=) rs757002779 0.00001
NM_000143.4(FH):c.154A>T (p.Ile52Leu) rs543844061 0.00001
NM_000143.4(FH):c.167C>G (p.Thr56Ser) rs1433872618 0.00001
NM_000143.4(FH):c.178C>T (p.Leu60=) rs201146499 0.00001
NM_000143.4(FH):c.184G>A (p.Val62Met) rs199894369 0.00001
NM_000143.4(FH):c.190A>G (p.Asn64Asp) rs886046319 0.00001
NM_000143.4(FH):c.193G>A (p.Asp65Asn) rs769956664 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val) rs776806414 0.00001
NM_000143.4(FH):c.203A>G (p.Tyr68Cys) rs1472397242 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000143.4(FH):c.210C>T (p.Ala70=) rs1573888428 0.00001
NM_000143.4(FH):c.222A>T (p.Arg74Ser) rs146739519 0.00001
NM_000143.4(FH):c.227C>T (p.Thr76Met) rs778578307 0.00001
NM_000143.4(FH):c.237T>C (p.Phe79=) rs1443879574 0.00001
NM_000143.4(FH):c.26C>G (p.Ala9Gly) rs766915154 0.00001
NM_000143.4(FH):c.28C>T (p.Arg10Cys) rs201507555 0.00001
NM_000143.4(FH):c.292A>G (p.Ile98Val) rs1660147766 0.00001
NM_000143.4(FH):c.294C>G (p.Ile98Met) rs1573886484 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000143.4(FH):c.317T>C (p.Val106Ala) rs1382226356 0.00001
NM_000143.4(FH):c.327T>G (p.Asp109Glu) rs757312078 0.00001
NM_000143.4(FH):c.330T>C (p.Tyr110=) rs753962693 0.00001
NM_000143.4(FH):c.332G>A (p.Gly111Asp) rs764340490 0.00001
NM_000143.4(FH):c.34C>T (p.Arg12Cys) rs199912971 0.00001
NM_000143.4(FH):c.354T>C (p.Asn118=) rs1465574376 0.00001
NM_000143.4(FH):c.378+3A>C rs774403932 0.00001
NM_000143.4(FH):c.405T>G (p.His135Gln) rs1298815479 0.00001
NM_000143.4(FH):c.412C>G (p.Leu138Val) rs1466082062 0.00001
NM_000143.4(FH):c.414C>T (p.Leu138=) rs540968725 0.00001
NM_000143.4(FH):c.415G>A (p.Val139Met) rs200343823 0.00001
NM_000143.4(FH):c.417G>A (p.Val139=) rs768341401 0.00001
NM_000143.4(FH):c.41T>C (p.Leu14Pro) rs1553342163 0.00001
NM_000143.4(FH):c.424C>G (p.Gln142Glu) rs1355199594 0.00001
NM_000143.4(FH):c.42C>A (p.Leu14=) rs1660322230 0.00001
NM_000143.4(FH):c.431G>A (p.Gly144Glu) rs1057521425 0.00001
NM_000143.4(FH):c.43G>T (p.Val15Leu) rs1463008959 0.00001
NM_000143.4(FH):c.444G>A (p.Gln148=) rs928534157 0.00001
NM_000143.4(FH):c.456T>C (p.Asn152=) rs876658403 0.00001
NM_000143.4(FH):c.468C>A (p.Val156=) rs202061330 0.00001
NM_000143.4(FH):c.46C>T (p.Arg16Trp) rs1324875131 0.00001
NM_000143.4(FH):c.48G>T (p.Arg16=) rs1468361143 0.00001
NM_000143.4(FH):c.492G>C (p.Met164Ile) rs1370195868 0.00001
NM_000143.4(FH):c.49G>C (p.Ala17Pro) rs755886213 0.00001
NM_000143.4(FH):c.514A>G (p.Lys172Glu) rs201154463 0.00001
NM_000143.4(FH):c.534C>T (p.Asn178=) rs375878939 0.00001
NM_000143.4(FH):c.553_554insTG (p.Gln185fs) rs768182640 0.00001
NM_000143.4(FH):c.556-5A>G rs1060500892 0.00001
NM_000143.4(FH):c.560C>G (p.Ser187Ter) rs398123166 0.00001
NM_000143.4(FH):c.583A>G (p.Met195Val) rs1553341364 0.00001
NM_000143.4(FH):c.589A>G (p.Ile197Val) rs201764931 0.00001
NM_000143.4(FH):c.58G>A (p.Ala20Thr) rs572324497 0.00001
NM_000143.4(FH):c.5A>G (p.Tyr2Cys) rs1553342167 0.00001
NM_000143.4(FH):c.611A>T (p.His204Leu) rs1060500898 0.00001
NM_000143.4(FH):c.615A>G (p.Glu205=) rs1474356587 0.00001
NM_000143.4(FH):c.62C>G (p.Ala21Gly) rs1131691251 0.00001
NM_000143.4(FH):c.639G>A (p.Lys213=) rs377222193 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000143.4(FH):c.655G>A (p.Asp219Asn) rs11545656 0.00001
NM_000143.4(FH):c.658G>A (p.Ala220Thr) rs747135440 0.00001
NM_000143.4(FH):c.684C>T (p.Ile228=) rs1384151924 0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys) rs587781682 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000143.4(FH):c.73G>A (p.Ala25Thr) rs999146815 0.00001
NM_000143.4(FH):c.763G>A (p.Val255Ile) rs752144845 0.00001
NM_000143.4(FH):c.765A>G (p.Val255=) rs200965107 0.00001
NM_000143.4(FH):c.771T>C (p.Tyr257=) rs199909758 0.00001
NM_000143.4(FH):c.775A>G (p.Met259Val) rs1343775223 0.00001
NM_000143.4(FH):c.784A>G (p.Ile262Val) rs199829765 0.00001
NM_000143.4(FH):c.788A>C (p.Lys263Thr) rs765997824 0.00001
NM_000143.4(FH):c.792T>C (p.Ala264=) rs368234566 0.00001
NM_000143.4(FH):c.805A>G (p.Ile269Val) rs377015873 0.00001
NM_000143.4(FH):c.80G>C (p.Gly27Ala) rs1339215584 0.00001
NM_000143.4(FH):c.816C>T (p.Leu272=) rs775368701 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000143.4(FH):c.81C>T (p.Gly27=) rs1206696042 0.00001
NM_000143.4(FH):c.830C>G (p.Thr277Ser) rs1553341160 0.00001
NM_000143.4(FH):c.853A>G (p.Thr285Ala) rs200791185 0.00001
NM_000143.4(FH):c.889G>A (p.Val297Met) rs1245254230 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000143.4(FH):c.909G>C (p.Leu303Phe) rs1659857850 0.00001
NM_000143.4(FH):c.90C>A (p.Gly30=) rs1262096783 0.00001
NM_000143.4(FH):c.914T>C (p.Phe305Ser) rs1439046582 0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly) rs1057524385 0.00001
NM_000143.4(FH):c.959C>T (p.Ala320Val) rs202147731 0.00001
NM_000143.4(FH):c.961C>G (p.Leu321Val) rs763077972 0.00001
NM_000143.4(FH):c.96C>A (p.Ala32=) rs750087000 0.00001
NM_000143.4(FH):c.974G>C (p.Ser325Thr) rs1423324601 0.00001
NM_000143.4(FH):c.986A>G (p.Asn329Ser) rs768483509 0.00001
NM_000143.4(FH):c.987C>T (p.Asn329=) rs1049719 0.00001
NM_000143.4(FH):c.98T>G (p.Val33Gly) rs1319755767 0.00001
NM_000143.4(FH):c.993T>C (p.Thr331=) rs757921798 0.00001
NM_000143.4(FH):c.9A>C (p.Arg3=) rs941921568 0.00001
NM_000143.3(FH):c.-57C>G rs201589544
NM_000143.3(FH):c.556_557delAG rs1131691235
NM_000143.4(FH):c.-1C>A
NM_000143.4(FH):c.-1C>G
NM_000143.4(FH):c.-1C>T
NM_000143.4(FH):c.-2C>A
NM_000143.4(FH):c.-3A>C
NM_000143.4(FH):c.-3A>T
NM_000143.4(FH):c.-5G>A
NM_000143.4(FH):c.-5del
NM_000143.4(FH):c.-6_-5delinsCA
NM_000143.4(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.4(FH):c.1000A>G (p.Ser334Gly) rs587782216
NM_000143.4(FH):c.1000dup (p.Ser334fs) rs1659853029
NM_000143.4(FH):c.1002T>C (p.Ser334=) rs2147916185
NM_000143.4(FH):c.1007T>G (p.Met336Arg) rs863223972
NM_000143.4(FH):c.100C>T (p.Pro34Ser) rs1191023697
NM_000143.4(FH):c.1012A>T (p.Ile338Leu)
NM_000143.4(FH):c.1013T>C (p.Ile338Thr) rs201975537
NM_000143.4(FH):c.1016C>A (p.Ala339Glu) rs1659852423
NM_000143.4(FH):c.1016C>T (p.Ala339Val) rs1659852423
NM_000143.4(FH):c.1020T>C (p.Asn340=)
NM_000143.4(FH):c.1023T>C (p.Asp341=) rs863223973
NM_000143.4(FH):c.1023T>G (p.Asp341Glu) rs863223973
NM_000143.4(FH):c.1025T>C (p.Ile342Thr) rs201383596
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.4(FH):c.1029A>T (p.Arg343=)
NM_000143.4(FH):c.102C>A (p.Pro34=)
NM_000143.4(FH):c.1030T>C (p.Phe344Leu)
NM_000143.4(FH):c.1041del (p.Gly348fs) rs1060499641
NM_000143.4(FH):c.1045C>G (p.Pro349Ala) rs1254962869
NM_000143.4(FH):c.1046C>G (p.Pro349Arg) rs1553341017
NM_000143.4(FH):c.1050G>C (p.Arg350=)
NM_000143.4(FH):c.1051T>G (p.Ser351Ala) rs766918221
NM_000143.4(FH):c.1052C>A (p.Ser351Ter) rs1060500896
NM_000143.4(FH):c.1052C>G (p.Ser351Ter) rs1060500896
NM_000143.4(FH):c.1056dup (p.Leu353fs) rs863224016
NM_000143.4(FH):c.1058T>C (p.Leu353Pro)
NM_000143.4(FH):c.105G>C (p.Ser35=) rs181655698
NM_000143.4(FH):c.105G>T (p.Ser35=)
NM_000143.4(FH):c.1061G>A (p.Gly354Glu) rs1057523184
NM_000143.4(FH):c.1066T>C (p.Leu356=) rs1157405003
NM_000143.4(FH):c.1068G>A (p.Leu356=)
NM_000143.4(FH):c.1068del (p.Ile357fs)
NM_000143.4(FH):c.1069A>G (p.Ile357Val) rs1027877625
NM_000143.4(FH):c.1070T>C (p.Ile357Thr) rs1388251431
NM_000143.4(FH):c.1071C>A (p.Ile357=) rs1391140770
NM_000143.4(FH):c.1071C>G (p.Ile357Met) rs1391140770
NM_000143.4(FH):c.1071C>T (p.Ile357=) rs1391140770
NM_000143.4(FH):c.1072T>C (p.Leu358=) rs918902822
NM_000143.4(FH):c.1074G>A (p.Leu358=)
NM_000143.4(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.4(FH):c.1084G>A (p.Glu362Lys) rs121913119
NM_000143.4(FH):c.1084G>C (p.Glu362Gln) rs121913119
NM_000143.4(FH):c.1085A>G (p.Glu362Gly)
NM_000143.4(FH):c.1086A>G (p.Glu362=) rs1553341008
NM_000143.4(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.4(FH):c.1094G>A (p.Ser365Asn) rs1131691238
NM_000143.4(FH):c.1095C>T (p.Ser365=)
NM_000143.4(FH):c.1097G>A (p.Ser366Asn) rs863224004
NM_000143.4(FH):c.1105C>T (p.Pro369Ser)
NM_000143.4(FH):c.1108+1G>T rs1057517734
NM_000143.4(FH):c.1108+2T>A
NM_000143.4(FH):c.1108G>C (p.Gly370Arg) rs1659848371
NM_000143.4(FH):c.1109-12del rs2147915059
NM_000143.4(FH):c.1109-4G>A rs959933221
NM_000143.4(FH):c.1109-4G>C
NM_000143.4(FH):c.1110C>T (p.Gly370=)
NM_000143.4(FH):c.1112A>G (p.Lys371Arg) rs863224005
NM_000143.4(FH):c.1119C>T (p.Asn373=) rs542014575
NM_000143.4(FH):c.111G>T (p.Trp37Cys) rs1573889881
NM_000143.4(FH):c.1120C>A (p.Pro374Thr) rs876660446
NM_000143.4(FH):c.1123A>C (p.Thr375Pro)
NM_000143.4(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.4(FH):c.1129T>C (p.Cys377Arg) rs398123161
NM_000143.4(FH):c.1136C>A (p.Ala379Glu) rs2147914999
NM_000143.4(FH):c.1138dup (p.Met380fs) rs781466938
NM_000143.4(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.4(FH):c.1149T>C (p.Val383=)
NM_000143.4(FH):c.1151C>T (p.Ala384Val) rs904463039
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla)
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.4(FH):c.1161C>T (p.Val387=)
NM_000143.4(FH):c.1162A>G (p.Met388Val) rs1573879331
NM_000143.4(FH):c.1163T>C (p.Met388Thr) rs876660830
NM_000143.4(FH):c.1165G>A (p.Gly389Arg)
NM_000143.4(FH):c.1171C>T (p.His391Tyr)
NM_000143.4(FH):c.1179T>C (p.Ala393=)
NM_000143.4(FH):c.117G>A (p.Pro39=)
NM_000143.4(FH):c.117G>C (p.Pro39=)
NM_000143.4(FH):c.117G>T (p.Pro39=) rs1291665514
NM_000143.4(FH):c.1187_1188delinsCT (p.Val396Ala)
NM_000143.4(FH):c.1192G>A (p.Gly398Ser)
NM_000143.4(FH):c.1198A>G (p.Asn400Asp) rs1131691247
NM_000143.4(FH):c.11C>A (p.Ala4Glu) rs1252151546
NM_000143.4(FH):c.1200T>G (p.Asn400Lys) rs1659805291
NM_000143.4(FH):c.1202G>A (p.Gly401Glu) rs1573879289
NM_000143.4(FH):c.1203A>G (p.Gly401=)
NM_000143.4(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.4(FH):c.1209del (p.Phe403fs) rs1060499644
NM_000143.4(FH):c.120C>T (p.Asn40=) rs876658186
NM_000143.4(FH):c.1212G>A (p.Glu404=) rs752558644
NM_000143.4(FH):c.1216A>G (p.Asn406Asp) rs876659362
NM_000143.4(FH):c.1219G>A (p.Val407Ile)
NM_000143.4(FH):c.121G>A (p.Ala41Thr)
NM_000143.4(FH):c.1228C>T (p.Pro410Ser) rs2147914837
NM_000143.4(FH):c.1230A>G (p.Pro410=)
NM_000143.4(FH):c.1236+1G>C rs1131691249
NM_000143.4(FH):c.1236+2T>C
NM_000143.4(FH):c.1236+2T>G
NM_000143.4(FH):c.1237-13_1237-12insCTCTCA rs1553340724
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCA rs1553340726
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCTCTCA rs1553340727
NM_000143.4(FH):c.1237-14_1237-5del rs759012809
NM_000143.4(FH):c.1237-1G>T rs1573878149
NM_000143.4(FH):c.1237-2A>G rs2147913407
NM_000143.4(FH):c.1237-3A>G rs2147913409
NM_000143.4(FH):c.1237-50TC[15] rs144131869
NM_000143.4(FH):c.1237-50TC[16] rs144131869
NM_000143.4(FH):c.1237-50TC[17] rs144131869
NM_000143.4(FH):c.1237-50TC[18] rs144131869
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.1237-50TC[25] rs144131869
NM_000143.4(FH):c.1237-50TC[27] rs144131869
NM_000143.4(FH):c.1237-50TC[28] rs144131869
NM_000143.4(FH):c.1237-50TC[29] rs144131869
NM_000143.4(FH):c.1237-5C>G rs200926050
NM_000143.4(FH):c.1237-5C>T rs200926050
NM_000143.4(FH):c.123G>A (p.Ala41=) rs1660317620
NM_000143.4(FH):c.123G>T (p.Ala41=)
NM_000143.4(FH):c.1240A>T (p.Lys414Ter) rs1573878145
NM_000143.4(FH):c.1247del (p.Val416fs) rs2147913368
NM_000143.4(FH):c.1248G>A (p.Val416=) rs1659748690
NM_000143.4(FH):c.1249T>C (p.Leu417=) rs2147913360
NM_000143.4(FH):c.1251A>C (p.Leu417Phe) rs1573878136
NM_000143.4(FH):c.1252C>A (p.His418Asn)
NM_000143.4(FH):c.1252C>T (p.His418Tyr)
NM_000143.4(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.4(FH):c.1262G>T (p.Arg421Met) rs1659747962
NM_000143.4(FH):c.1267C>G (p.Leu423Val)
NM_000143.4(FH):c.1268T>G (p.Leu423Arg) rs863224009
NM_000143.4(FH):c.1272G>A (p.Gly424=)
NM_000143.4(FH):c.1280C>T (p.Ser427Leu) rs1573878095
NM_000143.4(FH):c.1283_1294del (p.Val428_Thr431del)
NM_000143.4(FH):c.1284T>C (p.Val428=)
NM_000143.4(FH):c.1287C>A (p.Ser429=)
NM_000143.4(FH):c.1287del (p.Phe430fs) rs1659746788
NM_000143.4(FH):c.128G>C (p.Arg43Pro)
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) rs201005880
NM_000143.4(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.4(FH):c.1297A>T (p.Asn433Tyr) rs200121326
NM_000143.4(FH):c.1298dup (p.Asn433fs) rs1573878071
NM_000143.4(FH):c.129_132+5delinsGAGC
NM_000143.4(FH):c.1305G>A (p.Val435=) rs772415507
NM_000143.4(FH):c.1305G>T (p.Val435=) rs772415507
NM_000143.4(FH):c.1306G>A (p.Val436Met) rs1324526971
NM_000143.4(FH):c.1306G>C (p.Val436Leu)
NM_000143.4(FH):c.1306G>T (p.Val436Leu) rs1324526971
NM_000143.4(FH):c.1307T>C (p.Val436Ala)
NM_000143.4(FH):c.1319C>G (p.Ala440Gly)
NM_000143.4(FH):c.132+4A>G
NM_000143.4(FH):c.132+5G>A rs1060499627
NM_000143.4(FH):c.1323T>C (p.Asn441=)
NM_000143.4(FH):c.1325C>G (p.Thr442Arg) rs1060500899
NM_000143.4(FH):c.1325C>T (p.Thr442Ile)
NM_000143.4(FH):c.1326A>C (p.Thr442=)
NM_000143.4(FH):c.1326A>T (p.Thr442=)
NM_000143.4(FH):c.1329A>G (p.Glu443=)
NM_000143.4(FH):c.132G>A (p.Met44Ile) rs863223982
NM_000143.4(FH):c.1330A>C (p.Arg444=) rs749266351
NM_000143.4(FH):c.1338C>G (p.Asn446Lys) rs113572177
NM_000143.4(FH):c.1339A>T (p.Lys447Ter) rs863223977
NM_000143.4(FH):c.133G>T (p.Ala45Ser) rs1260007300
NM_000143.4(FH):c.1340A>G (p.Lys447Arg) rs756326120
NM_000143.4(FH):c.1342C>T (p.Leu448=) rs2147913090
NM_000143.4(FH):c.1345A>T (p.Met449Leu)
NM_000143.4(FH):c.1347del (p.Met449fs) rs1060500903
NM_000143.4(FH):c.1349_1352dup (p.Glu451_Ser452insTer) rs863223990
NM_000143.4(FH):c.134del (p.Ala45fs) rs1131691237
NM_000143.4(FH):c.1354T>A (p.Ser452Thr) rs201388169
NM_000143.4(FH):c.1357C>G (p.Leu453Val) rs1218102979
NM_000143.4(FH):c.1360A>G (p.Met454Val)
NM_000143.4(FH):c.1366G>C (p.Val456Leu) rs200244096
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs) rs863223992
NM_000143.4(FH):c.1371A>G (p.Thr457=)
NM_000143.4(FH):c.1379A>G (p.Asn460Ser) rs767253363
NM_000143.4(FH):c.1380T>C (p.Asn460=)
NM_000143.4(FH):c.1384C>T (p.His462Tyr) rs201625211
NM_000143.4(FH):c.1385A>G (p.His462Arg) rs1466657268
NM_000143.4(FH):c.1389A>G (p.Ile463Met) rs876659472
NM_000143.4(FH):c.138C>T (p.Ser46=)
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1390+2T>C rs1558396285
NM_000143.4(FH):c.1390+3A>G
NM_000143.4(FH):c.1390G>A (p.Gly464Arg) rs1573877922
NM_000143.4(FH):c.1391-1G>T
NM_000143.4(FH):c.1391-269A>G rs2147911550
NM_000143.4(FH):c.1391-2A>G rs863224008
NM_000143.4(FH):c.1391-2A>T rs863224008
NM_000143.4(FH):c.1391G>A (p.Gly464Glu) rs1131691250
NM_000143.4(FH):c.1391G>T (p.Gly464Val) rs1131691250
NM_000143.4(FH):c.1398C>T (p.Asp466=) rs1558395525
NM_000143.4(FH):c.139C>T (p.Gln47Ter) rs863223980
NM_000143.4(FH):c.13C>T (p.Leu5Phe) rs1553342165
NM_000143.4(FH):c.1403C>T (p.Ala468Val)
NM_000143.4(FH):c.1404A>C (p.Ala468=)
NM_000143.4(FH):c.1411A>G (p.Ile471Val)
NM_000143.4(FH):c.1413dup (p.Ala472fs)
NM_000143.4(FH):c.1414G>A (p.Ala472Thr)
NM_000143.4(FH):c.1415C>T (p.Ala472Val) rs765643179
NM_000143.4(FH):c.1419G>A (p.Lys473=)
NM_000143.4(FH):c.141A>G (p.Gln47=) rs1573888563
NM_000143.4(FH):c.1420A>G (p.Thr474Ala)
NM_000143.4(FH):c.1421C>T (p.Thr474Ile) rs369802820
NM_000143.4(FH):c.1422A>G (p.Thr474=) rs1573876607
NM_000143.4(FH):c.1425A>G (p.Ala475=)
NM_000143.4(FH):c.1425A>T (p.Ala475=)
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1435G>A (p.Gly479Arg)
NM_000143.4(FH):c.1439C>G (p.Ser480Ter) rs1131691245
NM_000143.4(FH):c.143A>G (p.Asn48Ser)
NM_000143.4(FH):c.1440A>T (p.Ser480=)
NM_000143.4(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.4(FH):c.1446A>C (p.Leu482Phe) rs863223979
NM_000143.4(FH):c.1450G>A (p.Glu484Lys)
NM_000143.4(FH):c.1455T>C (p.Thr485=) rs2147911274
NM_000143.4(FH):c.1458T>C (p.Ala486=)
NM_000143.4(FH):c.1459A>G (p.Ile487Val) rs1391195810
NM_000143.4(FH):c.1459A>T (p.Ile487Phe)
NM_000143.4(FH):c.1467T>G (p.Leu489=)
NM_000143.4(FH):c.1469del (p.Gly490fs) rs1060499645
NM_000143.4(FH):c.1474C>G (p.Leu492Val) rs1659663430
NM_000143.4(FH):c.1475_1476del (p.Leu492fs) rs886041201
NM_000143.4(FH):c.1476C>G (p.Leu492=) rs1659663240
NM_000143.4(FH):c.1480G>A (p.Ala494Thr)
NM_000143.4(FH):c.1480G>C (p.Ala494Pro) rs1553340508
NM_000143.4(FH):c.1481C>T (p.Ala494Val) rs752369363
NM_000143.4(FH):c.1482A>C (p.Ala494=)
NM_000143.4(FH):c.1482del (p.Glu495fs)
NM_000143.4(FH):c.1489T>C (p.Phe497Leu) rs2147911216
NM_000143.4(FH):c.1495G>A (p.Glu499Lys) rs750838853
NM_000143.4(FH):c.1498T>C (p.Trp500Arg)
NM_000143.4(FH):c.14T>C (p.Leu5Pro) rs200099371
NM_000143.4(FH):c.14T>G (p.Leu5Arg)
NM_000143.4(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.4(FH):c.1500G>C (p.Trp500Cys)
NM_000143.4(FH):c.1506A>G (p.Lys502=) rs1573876491
NM_000143.4(FH):c.1506dup (p.Pro503fs) rs886041202
NM_000143.4(FH):c.1508C>G (p.Pro503Arg) rs1659661748
NM_000143.4(FH):c.150C>T (p.Phe50=) rs2147925282
NM_000143.4(FH):c.1519_1521del (p.Leu507del)
NM_000143.4(FH):c.151C>A (p.Arg51=) rs778678782
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.1521G>A (p.Leu507=) rs2147911186
NM_000143.4(FH):c.1522G>A (p.Gly508Ser)
NM_000143.4(FH):c.1523G>A (p.Gly508Asp)
NM_000143.4(FH):c.1526C>T (p.Pro509Leu) rs1553340499
NM_000143.4(FH):c.152G>A (p.Arg51Gln) rs976734433
NM_000143.4(FH):c.1531T>A (p.Ter511Arg) rs2147911172
NM_000143.4(FH):c.153G>C (p.Arg51=)
NM_000143.4(FH):c.154A>G (p.Ile52Val) rs543844061
NM_000143.4(FH):c.157G>A (p.Glu53Lys) rs863224013
NM_000143.4(FH):c.157G>T (p.Glu53Ter) rs863224013
NM_000143.4(FH):c.15T>G (p.Leu5=) rs2147927079
NM_000143.4(FH):c.163_165del (p.Asp55del)
NM_000143.4(FH):c.166A>G (p.Thr56Ala) rs1232573732
NM_000143.4(FH):c.167C>T (p.Thr56Ile) rs1433872618
NM_000143.4(FH):c.168C>T (p.Thr56=) rs574938106
NM_000143.4(FH):c.16C>G (p.Arg6Gly)
NM_000143.4(FH):c.16C>T (p.Arg6Trp) rs1660324018
NM_000143.4(FH):c.172G>A (p.Gly58Ser) rs11545659
NM_000143.4(FH):c.173G>A (p.Gly58Asp)
NM_000143.4(FH):c.174_177dup (p.Leu60Ter) rs1131691246
NM_000143.4(FH):c.175G>T (p.Glu59Ter) rs1573888513
NM_000143.4(FH):c.177A>C (p.Glu59Asp)
NM_000143.4(FH):c.183G>A (p.Lys61=) rs766840026
NM_000143.4(FH):c.186G>A (p.Val62=)
NM_000143.4(FH):c.188C>T (p.Pro63Leu)
NM_000143.4(FH):c.189A>G (p.Pro63=)
NM_000143.4(FH):c.18G>A (p.Arg6=)
NM_000143.4(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.4(FH):c.199T>G (p.Tyr67Asp) rs1660243497
NM_000143.4(FH):c.199TAT[1] (p.Tyr68del) rs1573888450
NM_000143.4(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.4(FH):c.1A>T (p.Met1Leu) rs776806414
NM_000143.4(FH):c.200A>G (p.Tyr67Cys)
NM_000143.4(FH):c.201T>A (p.Tyr67Ter) rs1558402241
NM_000143.4(FH):c.201T>G (p.Tyr67Ter) rs1558402241
NM_000143.4(FH):c.204T>A (p.Tyr68Ter) rs1060500883
NM_000143.4(FH):c.204T>C (p.Tyr68=) rs1060500883
NM_000143.4(FH):c.204T>G (p.Tyr68Ter)
NM_000143.4(FH):c.205G>A (p.Gly69Ser)
NM_000143.4(FH):c.207C>G (p.Gly69=) rs370392829
NM_000143.4(FH):c.209C>T (p.Ala70Val) rs1573888433
NM_000143.4(FH):c.211C>T (p.Gln71Ter)
NM_000143.4(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.4(FH):c.216C>T (p.Thr72=) rs1341995835
NM_000143.4(FH):c.217G>C (p.Val73Leu)
NM_000143.4(FH):c.21C>G (p.Leu7=) rs1263147931
NM_000143.4(FH):c.220A>T (p.Arg74Ter)
NM_000143.4(FH):c.225T>C (p.Ser75=)
NM_000143.4(FH):c.226A>G (p.Thr76Ala)
NM_000143.4(FH):c.228G>A (p.Thr76=) rs373586584
NM_000143.4(FH):c.228G>C (p.Thr76=) rs373586584
NM_000143.4(FH):c.228G>T (p.Thr76=) rs373586584
NM_000143.4(FH):c.229A>G (p.Met77Val)
NM_000143.4(FH):c.234C>A (p.Asn78Lys) rs993218685
NM_000143.4(FH):c.237dup (p.Lys80Ter) rs1553341945
NM_000143.4(FH):c.239A>C (p.Lys80Thr) rs1660241142
NM_000143.4(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.4(FH):c.23T>G (p.Leu8Arg)
NM_000143.4(FH):c.240G>A (p.Lys80=) rs1573888362
NM_000143.4(FH):c.243del (p.Ile81fs) rs1573888356
NM_000143.4(FH):c.24C>T (p.Leu8=)
NM_000143.4(FH):c.254C>G (p.Thr85Arg) rs1324632356
NM_000143.4(FH):c.260G>T (p.Arg87Leu) rs200007371
NM_000143.4(FH):c.265C>T (p.Pro89Ser)
NM_000143.4(FH):c.267+1G>A rs878853691
NM_000143.4(FH):c.267+1G>C rs878853691
NM_000143.4(FH):c.267A>C (p.Pro89=) rs1060500897
NM_000143.4(FH):c.268-2A>G rs1064793741
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup) rs1395036789
NM_000143.4(FH):c.270C>A (p.Thr90=)
NM_000143.4(FH):c.270C>G (p.Thr90=) rs748852152
NM_000143.4(FH):c.272C>T (p.Pro91Leu) rs1455612736
NM_000143.4(FH):c.273dup (p.Val92fs)
NM_000143.4(FH):c.275TTA[1] (p.Ile93del) rs1573886490
NM_000143.4(FH):c.276T>C (p.Val92=)
NM_000143.4(FH):c.284C>A (p.Ala95Asp)
NM_000143.4(FH):c.285T>C (p.Ala95=) rs973577283
NM_000143.4(FH):c.288T>C (p.Phe96=) rs747348623
NM_000143.4(FH):c.295_301del (p.Leu99fs) rs863224017
NM_000143.4(FH):c.299A>G (p.Lys100Arg)
NM_000143.4(FH):c.29G>T (p.Arg10Leu)
NM_000143.4(FH):c.2T>A (p.Met1Lys) rs201261794
NM_000143.4(FH):c.2T>C (p.Met1Thr) rs201261794
NM_000143.4(FH):c.301_319del (p.Arg101fs) rs1558401094
NM_000143.4(FH):c.302G>C (p.Arg101Pro) rs75086406
NM_000143.4(FH):c.307G>T (p.Ala103Ser)
NM_000143.4(FH):c.308C>T (p.Ala103Val) rs1256116208
NM_000143.4(FH):c.30C>G (p.Arg10=)
NM_000143.4(FH):c.30C>T (p.Arg10=)
NM_000143.4(FH):c.310G>A (p.Ala104Thr) rs1303488878
NM_000143.4(FH):c.312T>G (p.Ala104=)
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer) rs876658569
NM_000143.4(FH):c.318A>G (p.Val106=) rs2147923011
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.326A>T (p.Asp109Val) rs1573886432
NM_000143.4(FH):c.336T>C (p.Leu112=)
NM_000143.4(FH):c.337G>T (p.Asp113Tyr)
NM_000143.4(FH):c.339T>A (p.Asp113Glu) rs1029743950
NM_000143.4(FH):c.33G>T (p.Ser11=) rs200542051
NM_000143.4(FH):c.345G>A (p.Lys115=)
NM_000143.4(FH):c.349G>C (p.Ala117Pro) rs886039363
NM_000143.4(FH):c.34C>G (p.Arg12Gly) rs199912971
NM_000143.4(FH):c.353del (p.Asn118fs) rs1558401064
NM_000143.4(FH):c.354T>G (p.Asn118Lys) rs1465574376
NM_000143.4(FH):c.356C>T (p.Ala119Val) rs1395827785
NM_000143.4(FH):c.357A>C (p.Ala119=) rs767209674
NM_000143.4(FH):c.357A>T (p.Ala119=)
NM_000143.4(FH):c.359T>C (p.Ile120Thr)
NM_000143.4(FH):c.366G>A (p.Lys122=) rs1573886379
NM_000143.4(FH):c.367G>A (p.Ala123Thr)
NM_000143.4(FH):c.378+1G>A rs1660143675
NM_000143.4(FH):c.378+2T>C rs1131691241
NM_000143.4(FH):c.378G>C (p.Glu126Asp) rs1573886367
NM_000143.4(FH):c.379-1G>A rs1553341623
NM_000143.4(FH):c.379-1G>C rs1553341623
NM_000143.4(FH):c.379-2A>G rs1131691240
NM_000143.4(FH):c.379-4G>A rs1660104141
NM_000143.4(FH):c.379G>T (p.Val127Leu) rs878853693
NM_000143.4(FH):c.37C>G (p.Pro13Ala) rs587778360
NM_000143.4(FH):c.37C>T (p.Pro13Ser) rs587778360
NM_000143.4(FH):c.382G>A (p.Ala128Thr) rs1553341620
NM_000143.4(FH):c.382dup (p.Ala128fs)
NM_000143.4(FH):c.384T>C (p.Ala128=)
NM_000143.4(FH):c.385G>T (p.Glu129Ter)
NM_000143.4(FH):c.38C>T (p.Pro13Leu) rs1190505598
NM_000143.4(FH):c.393A>G (p.Lys131=)
NM_000143.4(FH):c.393A>T (p.Lys131Asn) rs2147922022
NM_000143.4(FH):c.39C>A (p.Pro13=) rs1060504077
NM_000143.4(FH):c.402T>G (p.Asp134Glu)
NM_000143.4(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.4(FH):c.409C>G (p.Pro137Ala)
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.4(FH):c.410C>G (p.Pro137Arg) rs1660101853
NM_000143.4(FH):c.415G>T (p.Val139Leu)
NM_000143.4(FH):c.416T>G (p.Val139Gly) rs1573885528
NM_000143.4(FH):c.418G>A (p.Val140Ile)
NM_000143.4(FH):c.418G>C (p.Val140Leu) rs746195750
NM_000143.4(FH):c.423del (p.Trp141fs)
NM_000143.4(FH):c.425A>G (p.Gln142Arg) rs1573885503
NM_000143.4(FH):c.429T>C (p.Thr143=)
NM_000143.4(FH):c.42C>G (p.Leu14=)
NM_000143.4(FH):c.42C>T (p.Leu14=) rs1660322230
NM_000143.4(FH):c.431G>C (p.Gly144Ala)
NM_000143.4(FH):c.431G>T (p.Gly144Val) rs1057521425
NM_000143.4(FH):c.434C>G (p.Ser145Ter) rs1573885482
NM_000143.4(FH):c.435A>T (p.Ser145=)
NM_000143.4(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.4(FH):c.439A>G (p.Thr147Ala) rs863223983
NM_000143.4(FH):c.43G>C (p.Val15Leu)
NM_000143.4(FH):c.450T>A (p.Asn150Lys) rs1131691242
NM_000143.4(FH):c.450T>C (p.Asn150=)
NM_000143.4(FH):c.452T>A (p.Met151Lys) rs1660099266
NM_000143.4(FH):c.452T>C (p.Met151Thr) rs1660099266
NM_000143.4(FH):c.458T>C (p.Val153Ala)
NM_000143.4(FH):c.45G>C (p.Val15=)
NM_000143.4(FH):c.462T>C (p.Asn154=) rs2147921891
NM_000143.4(FH):c.470T>G (p.Ile157Ser) rs2147921876
NM_000143.4(FH):c.477T>C (p.Asn159=) rs372913738
NM_000143.4(FH):c.478A>G (p.Arg160Gly) rs878853694
NM_000143.4(FH):c.47G>C (p.Arg16Pro) rs762310232
NM_000143.4(FH):c.481G>A (p.Ala161Thr) rs1573885421
NM_000143.4(FH):c.482C>A (p.Ala161Glu)
NM_000143.4(FH):c.482C>T (p.Ala161Val) rs1307815197
NM_000143.4(FH):c.486T>C (p.Ile162=) rs1573885412
NM_000143.4(FH):c.486T>G (p.Ile162Met)
NM_000143.4(FH):c.493T>C (p.Leu165=)
NM_000143.4(FH):c.496G>A (p.Gly166Arg) rs1660097824
NM_000143.4(FH):c.499G>T (p.Gly167Cys)
NM_000143.4(FH):c.500G>T (p.Gly167Val) rs1558400520
NM_000143.4(FH):c.504A>G (p.Glu168=)
NM_000143.4(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.4(FH):c.507T>G (p.Leu169=)
NM_000143.4(FH):c.508G>T (p.Gly170Cys) rs1573885366
NM_000143.4(FH):c.509G>A (p.Gly170Asp) rs1573885360
NM_000143.4(FH):c.512G>A (p.Ser171Asn) rs1157774951
NM_000143.4(FH):c.513C>G (p.Ser171Arg) rs1660097007
NM_000143.4(FH):c.513C>T (p.Ser171=)
NM_000143.4(FH):c.520C>A (p.Pro174Thr) rs1553341598
NM_000143.4(FH):c.524T>G (p.Val175Gly)
NM_000143.4(FH):c.525G>A (p.Val175=) rs1553341592
NM_000143.4(FH):c.52C>G (p.Pro18Ala) rs1660321288
NM_000143.4(FH):c.531C>G (p.Pro177=) rs202056137
NM_000143.4(FH):c.535G>A (p.Asp179Asn) rs1553341588
NM_000143.4(FH):c.536A>G (p.Asp179Gly) rs2147921775
NM_000143.4(FH):c.539A>G (p.His180Arg) rs863224015
NM_000143.4(FH):c.546T>C (p.Asn182=)
NM_000143.4(FH):c.547A>G (p.Lys183Glu) rs2147921763
NM_000143.4(FH):c.551del (p.Ser184fs)
NM_000143.4(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.4(FH):c.555+1_555+9del
NM_000143.4(FH):c.555+3C>T
NM_000143.4(FH):c.555+4A>C
NM_000143.4(FH):c.555+4A>G rs776240700
NM_000143.4(FH):c.555+5G>A
NM_000143.4(FH):c.556-11A>G
NM_000143.4(FH):c.556-2A>T rs750273092
NM_000143.4(FH):c.556-3C>T
NM_000143.4(FH):c.556A>T (p.Ser186Cys) rs1131691233
NM_000143.4(FH):c.557G>A (p.Ser186Asn) rs587782618
NM_000143.4(FH):c.558C>T (p.Ser186=) rs2147919721
NM_000143.4(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.4(FH):c.562A>G (p.Asn188Asp)
NM_000143.4(FH):c.563del (p.Asn188fs) rs1131691248
NM_000143.4(FH):c.566A>T (p.Asp189Val) rs1064793125
NM_000143.4(FH):c.566dup (p.Asp189fs)
NM_000143.4(FH):c.568_569del (p.Thr190fs) rs1553341367
NM_000143.4(FH):c.574C>T (p.Pro192Ser) rs1573883345
NM_000143.4(FH):c.575C>T (p.Pro192Leu) rs1573883342
NM_000143.4(FH):c.576C>A (p.Pro192=) rs1413797947
NM_000143.4(FH):c.576C>G (p.Pro192=) rs1413797947
NM_000143.4(FH):c.576C>T (p.Pro192=)
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del) rs1060499635
NM_000143.4(FH):c.57C>T (p.Ala19=) rs1469317078
NM_000143.4(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000143.4(FH):c.586C>T (p.His196Tyr) rs1553341363
NM_000143.4(FH):c.587A>G (p.His196Arg) rs763601207
NM_000143.4(FH):c.58G>C (p.Ala20Pro)
NM_000143.4(FH):c.591TGC[2] (p.Ala200del) rs786202907
NM_000143.4(FH):c.593C>G (p.Ala198Gly) rs1414507017
NM_000143.4(FH):c.596C>A (p.Ala199Asp)
NM_000143.4(FH):c.597T>C (p.Ala199=)
NM_000143.4(FH):c.598G>A (p.Ala200Thr)
NM_000143.4(FH):c.59C>T (p.Ala20Val) rs1573889953
NM_000143.4(FH):c.600A>C (p.Ala200=) rs1490011492
NM_000143.4(FH):c.602T>C (p.Ile201Thr) rs1476664795
NM_000143.4(FH):c.603A>C (p.Ile201=)
NM_000143.4(FH):c.604G>A (p.Glu202Lys)
NM_000143.4(FH):c.610C>A (p.His204Asn) rs863223996
NM_000143.4(FH):c.612T>G (p.His204Gln) rs1424868653
NM_000143.4(FH):c.619C>T (p.Leu207=) rs1659995971
NM_000143.4(FH):c.621G>A (p.Leu207=) rs1210947784
NM_000143.4(FH):c.624del (p.Leu208fs) rs2147919608
NM_000143.4(FH):c.627A>G (p.Pro209=)
NM_000143.4(FH):c.62C>T (p.Ala21Val) rs1131691251
NM_000143.4(FH):c.633A>G (p.Leu211=) rs2147919592
NM_000143.4(FH):c.644A>G (p.His215Arg)
NM_000143.4(FH):c.644A>T (p.His215Leu) rs770141324
NM_000143.4(FH):c.646G>T (p.Asp216Tyr)
NM_000143.4(FH):c.647A>T (p.Asp216Val) rs1553341348
NM_000143.4(FH):c.648T>G (p.Asp216Glu) rs199536615
NM_000143.4(FH):c.653T>G (p.Leu218Arg) rs1553341345
NM_000143.4(FH):c.654T>C (p.Leu218=)
NM_000143.4(FH):c.654T>G (p.Leu218=)
NM_000143.4(FH):c.658_659delinsTT (p.Ala220Leu) rs1060500893
NM_000143.4(FH):c.659C>G (p.Ala220Gly) rs758678272
NM_000143.4(FH):c.65T>A (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.663dup (p.Ser222fs) rs1573883195
NM_000143.4(FH):c.667A>G (p.Lys223Glu)
NM_000143.4(FH):c.668A>C (p.Lys223Thr) rs1064795294
NM_000143.4(FH):c.669A>G (p.Lys223=) rs1573883183
NM_000143.4(FH):c.671A>T (p.Glu224Val)
NM_000143.4(FH):c.674T>C (p.Phe225Ser) rs149651434
NM_000143.4(FH):c.675T>C (p.Phe225=)
NM_000143.4(FH):c.676G>A (p.Ala226Thr) rs2147919498
NM_000143.4(FH):c.677C>A (p.Ala226Glu) rs778786425
NM_000143.4(FH):c.678A>C (p.Ala226=)
NM_000143.4(FH):c.678A>G (p.Ala226=) rs757078832
NM_000143.4(FH):c.679C>G (p.Gln227Glu)
NM_000143.4(FH):c.67G>A (p.Ala23Thr) rs1573889943
NM_000143.4(FH):c.680A>G (p.Gln227Arg)
NM_000143.4(FH):c.681G>T (p.Gln227His)
NM_000143.4(FH):c.683T>C (p.Ile228Thr) rs753773918
NM_000143.4(FH):c.683TCA[1] (p.Ile229del)
NM_000143.4(FH):c.687C>G (p.Ile229Met) rs755587163
NM_000143.4(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.4(FH):c.68C>T (p.Ala23Val) rs2147926968
NM_000143.4(FH):c.691A>C (p.Ile231Leu) rs1659991322
NM_000143.4(FH):c.692T>C (p.Ile231Thr) rs1335587342
NM_000143.4(FH):c.697C>G (p.Arg233Gly) rs587781682
NM_000143.4(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000143.4(FH):c.6C>G (p.Tyr2Ter) rs199971078
NM_000143.4(FH):c.703C>T (p.His235Tyr) rs863223968
NM_000143.4(FH):c.704A>G (p.His235Arg) rs1659990191
NM_000143.4(FH):c.707C>T (p.Thr236Ile) rs773382103
NM_000143.4(FH):c.708T>C (p.Thr236=)
NM_000143.4(FH):c.710A>G (p.Gln237Arg)
NM_000143.4(FH):c.712G>C (p.Asp238His)
NM_000143.4(FH):c.714T>C (p.Asp238=) rs2147919423
NM_000143.4(FH):c.718G>T (p.Val240Phe)
NM_000143.4(FH):c.71C>T (p.Ser24Leu)
NM_000143.4(FH):c.722C>T (p.Pro241Leu) rs1553341319
NM_000143.4(FH):c.722_738+3del rs1064792900
NM_000143.4(FH):c.729T>C (p.Thr243=) rs1573883071
NM_000143.4(FH):c.730C>T (p.Leu244Phe)
NM_000143.4(FH):c.731T>C (p.Leu244Pro) rs1060499636
NM_000143.4(FH):c.731T>G (p.Leu244Arg) rs1060499636
NM_000143.4(FH):c.733G>A (p.Gly245Arg) rs1287444534
NM_000143.4(FH):c.734G>A (p.Gly245Glu)
NM_000143.4(FH):c.735G>C (p.Gly245=) rs1448288377
NM_000143.4(FH):c.738+1G>A rs1659988368
NM_000143.4(FH):c.738+2T>C rs1060500901
NM_000143.4(FH):c.738+4T>G rs1203519378
NM_000143.4(FH):c.738G>A (p.Gln246=)
NM_000143.4(FH):c.738G>C (p.Gln246His) rs2147919372
NM_000143.4(FH):c.739-17TTTTC[2] rs745617145
NM_000143.4(FH):c.739G>T (p.Glu247Ter) rs1131691243
NM_000143.4(FH):c.740A>G (p.Glu247Gly)
NM_000143.4(FH):c.749G>A (p.Gly250Asp)
NM_000143.4(FH):c.749G>T (p.Gly250Val) rs951611697
NM_000143.4(FH):c.74C>A (p.Ala25Asp)
NM_000143.4(FH):c.750T>C (p.Gly250=)
NM_000143.4(FH):c.757C>T (p.Gln253Ter) rs1131691239
NM_000143.4(FH):c.75T>G (p.Ala25=)
NM_000143.4(FH):c.763_767del (p.Val255fs)
NM_000143.4(FH):c.764T>G (p.Val255Gly)
NM_000143.4(FH):c.767A>C (p.Lys256Thr) rs978988174
NM_000143.4(FH):c.770A>G (p.Tyr257Cys)
NM_000143.4(FH):c.773C>T (p.Ala258Val) rs1553341166
NM_000143.4(FH):c.774A>G (p.Ala258=) rs2147917743
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.4(FH):c.777G>A (p.Met259Ile) rs1044975651
NM_000143.4(FH):c.780A>C (p.Thr260=)
NM_000143.4(FH):c.780_781del (p.Arg261fs) rs1659924638
NM_000143.4(FH):c.782G>T (p.Arg261Ile) rs61736558
NM_000143.4(FH):c.782_784del (p.Arg261del)
NM_000143.4(FH):c.783A>G (p.Arg261=) rs1573881721
NM_000143.4(FH):c.785T>G (p.Ile262Arg) rs786203177
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.4(FH):c.78C>T (p.Pro26=) rs1029677665
NM_000143.4(FH):c.796A>T (p.Met266Leu)
NM_000143.4(FH):c.7C>T (p.Arg3Ter) rs202166344
NM_000143.4(FH):c.805del (p.Ile269fs) rs1131691234
NM_000143.4(FH):c.812A>G (p.Glu271Gly)
NM_000143.4(FH):c.814C>A (p.Leu272Ile) rs779019570
NM_000143.4(FH):c.816C>G (p.Leu272=)
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del) rs863223985
NM_000143.4(FH):c.818C>T (p.Ala273Val) rs1573881663
NM_000143.4(FH):c.81C>G (p.Gly27=)
NM_000143.4(FH):c.820G>T (p.Ala274Ser)
NM_000143.4(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.4(FH):c.824_827dup (p.Thr277fs) rs1659922131
NM_000143.4(FH):c.825A>T (p.Gly275=)
NM_000143.4(FH):c.827G>A (p.Gly276Asp) rs2147917609
NM_000143.4(FH):c.827G>T (p.Gly276Val)
NM_000143.4(FH):c.82T>C (p.Leu28=)
NM_000143.4(FH):c.831T>C (p.Thr277=) rs113349873
NM_000143.4(FH):c.834T>C (p.Ala278=)
NM_000143.4(FH):c.835G>A (p.Val279Ile)
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.842C>G (p.Thr281Arg)
NM_000143.4(FH):c.842C>T (p.Thr281Ile) rs1573881633
NM_000143.4(FH):c.846T>A (p.Gly282=)
NM_000143.4(FH):c.846T>C (p.Gly282=) rs1474982294
NM_000143.4(FH):c.852T>C (p.Asn284=) rs759596203
NM_000143.4(FH):c.857G>A (p.Arg286Lys)
NM_000143.4(FH):c.861T>C (p.Ile287=)
NM_000143.4(FH):c.866T>C (p.Phe289Ser)
NM_000143.4(FH):c.86G>T (p.Gly29Val)
NM_000143.4(FH):c.871G>A (p.Glu291Lys)
NM_000143.4(FH):c.872A>C (p.Glu291Ala)
NM_000143.4(FH):c.874A>C (p.Lys292Gln) rs771087739
NM_000143.4(FH):c.874A>G (p.Lys292Glu)
NM_000143.4(FH):c.880G>A (p.Ala294Thr) rs1659920259
NM_000143.4(FH):c.881C>T (p.Ala294Val) rs147437099
NM_000143.4(FH):c.885A>G (p.Ala295=) rs199635833
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.892G>T (p.Ala298Ser)
NM_000143.4(FH):c.893C>G (p.Ala298Gly) rs1573881563
NM_000143.4(FH):c.897A>G (p.Ala299=) rs1553341151
NM_000143.4(FH):c.898C>G (p.Leu300Val)
NM_000143.4(FH):c.89G>A (p.Gly30Asp)
NM_000143.4(FH):c.8G>C (p.Arg3Pro) rs1573890051
NM_000143.4(FH):c.902C>G (p.Thr301Arg)
NM_000143.4(FH):c.904+1G>A rs1553341148
NM_000143.4(FH):c.904+2dup rs1573881536
NM_000143.4(FH):c.904+4A>C rs1573881535
NM_000143.4(FH):c.904G>A (p.Gly302Ser) rs200412958
NM_000143.4(FH):c.904G>C (p.Gly302Arg)
NM_000143.4(FH):c.905-1G>A rs797044973
NM_000143.4(FH):c.905-1G>C rs797044973
NM_000143.4(FH):c.905-3T>C rs1573880626
NM_000143.4(FH):c.905-5T>G rs886046318
NM_000143.4(FH):c.906C>A (p.Gly302=)
NM_000143.4(FH):c.906C>T (p.Gly302=) rs1573880617
NM_000143.4(FH):c.907T>A (p.Leu303Met)
NM_000143.4(FH):c.907_910del (p.Pro304fs)
NM_000143.4(FH):c.909G>A (p.Leu303=)
NM_000143.4(FH):c.911C>G (p.Pro304Arg) rs200491078
NM_000143.4(FH):c.912T>C (p.Pro304=) rs1573880603
NM_000143.4(FH):c.912T>G (p.Pro304=) rs1573880603
NM_000143.4(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.4(FH):c.91G>A (p.Ala31Thr)
NM_000143.4(FH):c.921T>C (p.Thr307=)
NM_000143.4(FH):c.921T>G (p.Thr307=)
NM_000143.4(FH):c.924T>G (p.Ala308=) rs2147916343
NM_000143.4(FH):c.92C>T (p.Ala31Val) rs876659347
NM_000143.4(FH):c.930T>C (p.Asn310=)
NM_000143.4(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.4(FH):c.935T>C (p.Phe312Ser) rs1553341046
NM_000143.4(FH):c.936T>C (p.Phe312=)
NM_000143.4(FH):c.937G>T (p.Glu313Ter) rs863224001
NM_000143.4(FH):c.942T>C (p.Ala314=)
NM_000143.4(FH):c.943C>G (p.Leu315Val) rs1573880536
NM_000143.4(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.4(FH):c.94G>A (p.Ala32Thr) rs1371664717
NM_000143.4(FH):c.94G>T (p.Ala32Ser) rs1371664717
NM_000143.4(FH):c.950C>T (p.Ala317Val) rs2147916281
NM_000143.4(FH):c.951T>C (p.Ala317=) rs1659855471
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.4(FH):c.953A>G (p.His318Arg)
NM_000143.4(FH):c.955G>T (p.Asp319Tyr)
NM_000143.4(FH):c.956A>T (p.Asp319Val)
NM_000143.4(FH):c.958G>A (p.Ala320Thr)
NM_000143.4(FH):c.958G>T (p.Ala320Ser) rs766441385
NM_000143.4(FH):c.965T>A (p.Val322Asp)
NM_000143.4(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.4(FH):c.96C>T (p.Ala32=)
NM_000143.4(FH):c.973A>G (p.Ser325Gly)
NM_000143.4(FH):c.973A>T (p.Ser325Cys) rs201124581
NM_000143.4(FH):c.977G>A (p.Gly326Glu) rs1553341037
NM_000143.4(FH):c.979G>A (p.Ala327Thr) rs1333344957
NM_000143.4(FH):c.980C>T (p.Ala327Val) rs1659854224
NM_000143.4(FH):c.981C>T (p.Ala327=) rs1060504078
NM_000143.4(FH):c.982A>C (p.Met328Leu)
NM_000143.4(FH):c.984G>A (p.Met328Ile)
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200
NM_000143.4(FH):c.988A>G (p.Thr330Ala) rs776313200
NM_000143.4(FH):c.990T>G (p.Thr330=) rs1659853439
NM_000143.4(FH):c.991A>G (p.Thr331Ala) rs1459131048
NM_000143.4(FH):c.996C>G (p.Ala332=)
NM_000143.4(FH):c.996C>T (p.Ala332=)
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) rs1553341032
NM_000143.4(FH):c.999C>A (p.Cys333Ter) rs1553341031
NM_000143.4(FH):c.9A>G (p.Arg3=)

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