ClinVar Miner

List of variants reported as uncertain significance for Familial hypercholesterolemia

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ClinVar version:
Total variants: 1029
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HGVS dbSNP gnomAD frequency
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_015627.3(LDLRAP1):c.626C>T (p.Thr209Ile) rs141522360 0.00038
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly) rs141995194 0.00034
NM_015627.3(LDLRAP1):c.451C>T (p.Arg151Trp) rs148916767 0.00032
NM_000384.3(APOB):c.13651T>C (p.Tyr4551His) rs145832414 0.00029
NM_174936.4(PCSK9):c.399+4A>G rs376653409 0.00029
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn) rs199605881 0.00024
NM_174936.4(PCSK9):c.1294G>A (p.Asp432Asn) rs72646515 0.00024
NM_015627.3(LDLRAP1):c.344+4C>T rs371561646 0.00023
NM_015627.3(LDLRAP1):c.78C>T (p.Gly26=) rs928922661 0.00021
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp) rs137878146 0.00020
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_174936.4(PCSK9):c.1773C>G (p.His591Gln) rs529912877 0.00014
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys) rs201395805 0.00013
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr) rs146122441 0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000527.5(LDLR):c.643C>T (p.Arg215Cys) rs764042910 0.00011
NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys) rs879254934 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_015627.3(LDLRAP1):c.397G>A (p.Ala133Thr) rs529005321 0.00009
NM_000384.3(APOB):c.13670G>C (p.Gly4557Ala) rs146687572 0.00008
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala) rs730882107 0.00008
NM_000527.5(LDLR):c.2179G>A (p.Val727Ile) rs769247787 0.00008
NM_174936.4(PCSK9):c.207+5G>A rs1272703401 0.00008
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln) rs367620267 0.00008
NM_174936.4(PCSK9):c.493C>T (p.Arg165Trp) rs141593516 0.00008
NM_174936.4(PCSK9):c.520C>T (p.Pro174Ser) rs533273863 0.00008
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_174936.4(PCSK9):c.1492G>A (p.Glu498Lys) rs145468572 0.00007
NM_174936.4(PCSK9):c.317G>T (p.Gly106Val) rs370751343 0.00007
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) rs749322464 0.00006
NM_000527.5(LDLR):c.1359-3C>T rs775657243 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn) rs138190838 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_015627.3(LDLRAP1):c.122C>T (p.Thr41Met) rs142920998 0.00006
NM_174936.4(PCSK9):c.1300C>T (p.Arg434Trp) rs757143429 0.00006
NM_174936.4(PCSK9):c.1384T>C (p.Ser462Pro) rs746115963 0.00006
NM_174936.4(PCSK9):c.166C>T (p.Pro56Ser) rs775521571 0.00006
NM_174936.4(PCSK9):c.1969A>G (p.Arg657Gly) rs767286042 0.00006
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu) rs780214893 0.00006
NM_174936.4(PCSK9):c.471C>A (p.Asn157Lys) rs143117125 0.00006
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_000527.5(LDLR):c.710G>A (p.Arg237His) rs148171426 0.00005
NM_000527.5(LDLR):c.861C>T (p.Gly287=) rs770191650 0.00005
NM_174936.4(PCSK9):c.1930G>A (p.Val644Ile) rs143291739 0.00005
NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln) rs754143671 0.00005
NM_000384.3(APOB):c.166T>C (p.Tyr56His) rs150496608 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.190T>C (p.Leu64=) rs761629258 0.00004
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.434T>C (p.Val145Ala) rs776872913 0.00004
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn) rs562712652 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_015627.3(LDLRAP1):c.113C>T (p.Thr38Met) rs142139501 0.00004
NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln) rs764804901 0.00004
NM_174936.4(PCSK9):c.1120G>A (p.Asp374Asn) rs137852912 0.00004
NM_174936.4(PCSK9):c.1287C>A (p.Phe429Leu) rs111427099 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_174936.4(PCSK9):c.1792G>A (p.Ala598Thr) rs367606156 0.00004
NM_174936.4(PCSK9):c.1863+1G>A rs765335983 0.00004
NM_174936.4(PCSK9):c.1975C>T (p.Arg659Trp) rs147182054 0.00004
NM_174936.4(PCSK9):c.2002A>G (p.Ser668Gly) rs775077080 0.00004
NM_174936.4(PCSK9):c.2044C>T (p.Arg682Trp) rs753308448 0.00004
NM_174936.4(PCSK9):c.2050C>G (p.Leu684Val) rs201557607 0.00004
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00004
NM_174936.4(PCSK9):c.581G>A (p.Arg194Gln) rs748155397 0.00004
NM_174936.4(PCSK9):c.657+1G>T rs142824171 0.00004
NM_174936.4(PCSK9):c.697G>T (p.Val233Leu) rs150169598 0.00004
NM_174936.4(PCSK9):c.742C>T (p.Arg248Cys) rs779824389 0.00004
NM_174936.4(PCSK9):c.752G>A (p.Arg251His) rs376945520 0.00004
NM_174936.4(PCSK9):c.814C>T (p.Arg272Trp) rs754744118 0.00004
NM_174936.4(PCSK9):c.829G>C (p.Val277Leu) rs562011178 0.00004
NC_000019.10:g.11089263C>G rs989307060 0.00003
NM_000384.3(APOB):c.13586A>G (p.His4529Arg) rs958014928 0.00003
NM_000384.3(APOB):c.218C>A (p.Ala73Asp) rs377171241 0.00003
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.1335C>G (p.Asp445Glu) rs749780672 0.00003
NM_000527.5(LDLR):c.1835C>T (p.Ala612Val) rs377449975 0.00003
NM_000527.5(LDLR):c.2323G>A (p.Val775Ile) rs199766976 0.00003
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala) rs780300776 0.00003
NM_000527.5(LDLR):c.2359G>A (p.Val787Met) rs143771219 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000527.5(LDLR):c.2510A>G (p.His837Arg) rs150631538 0.00003
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu) rs377437226 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_015627.3(LDLRAP1):c.811G>A (p.Val271Ile) rs367832795 0.00003
NM_174936.4(PCSK9):c.106G>A (p.Gly36Ser) rs757753730 0.00003
NM_174936.4(PCSK9):c.1756A>G (p.Asn586Asp) rs146035580 0.00003
NM_174936.4(PCSK9):c.1882G>A (p.Glu628Lys) rs764653616 0.00003
NM_174936.4(PCSK9):c.1948G>A (p.Val650Ile) rs767706622 0.00003
NM_174936.4(PCSK9):c.1954A>G (p.Asn652Asp) rs201280059 0.00003
NM_174936.4(PCSK9):c.208-7G>A rs754232605 0.00003
NM_174936.4(PCSK9):c.266C>T (p.Ser89Leu) rs771978846 0.00003
NM_174936.4(PCSK9):c.289C>T (p.Arg97Cys) rs140319509 0.00003
NM_174936.4(PCSK9):c.298G>A (p.Ala100Thr) rs564681731 0.00003
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn) rs793888521 0.00003
NM_174936.4(PCSK9):c.721G>A (p.Val241Met) rs147478188 0.00003
NM_174936.4(PCSK9):c.754G>A (p.Val252Met) rs149139428 0.00003
NC_000019.10:g.11089396C>T rs879254366 0.00002
NC_000019.10:g.11089410C>G rs879254371 0.00002
NM_000384.3(APOB):c.133C>G (p.Arg45Gly) rs779776455 0.00002
NM_000384.3(APOB):c.85G>A (p.Glu29Lys) rs768728964 0.00002
NM_000527.5(LDLR):c.-23A>C rs763282380 0.00002
NM_000527.5(LDLR):c.-26G>T rs930509187 0.00002
NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln) rs875989914 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys) rs983617416 0.00002
NM_000527.5(LDLR):c.1162C>A (p.His388Asn) rs764551797 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1187-7C>A rs773740254 0.00002
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) rs749780672 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) rs875989924 0.00002
NM_000527.5(LDLR):c.1706-21_1706-19del rs386134242 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.1900C>T (p.Leu634Phe) rs1279368649 0.00002
NM_000527.5(LDLR):c.200C>T (p.Thr67Ile) rs1337448484 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000527.5(LDLR):c.2195G>C (p.Ser732Thr) rs764542721 0.00002
NM_000527.5(LDLR):c.226G>C (p.Gly76Arg) rs574337291 0.00002
NM_000527.5(LDLR):c.2301G>A (p.Met767Ile) rs149237737 0.00002
NM_000527.5(LDLR):c.2307C>G (p.His769Gln) rs760479588 0.00002
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00002
NM_000527.5(LDLR):c.2552A>G (p.Gln851Arg) rs372328061 0.00002
NM_000527.5(LDLR):c.395G>A (p.Arg132Gln) rs751519676 0.00002
NM_000527.5(LDLR):c.608A>G (p.His203Arg) rs774600508 0.00002
NM_000527.5(LDLR):c.64G>T (p.Ala22Ser) rs942568624 0.00002
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282 0.00002
NM_000527.5(LDLR):c.988A>C (p.Asn330His) rs730882095 0.00002
NM_015627.3(LDLRAP1):c.116G>A (p.Arg39Gln) rs761580368 0.00002
NM_015627.3(LDLRAP1):c.167C>T (p.Thr56Met) rs752849346 0.00002
NM_015627.3(LDLRAP1):c.710C>T (p.Pro237Leu) rs746229586 0.00002
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His) rs370507566 0.00002
NM_174936.4(PCSK9):c.1250A>G (p.His417Arg) rs769163891 0.00002
NM_174936.4(PCSK9):c.1303G>T (p.Val435Leu) rs780948835 0.00002
NM_174936.4(PCSK9):c.136C>T (p.Arg46Cys) rs747713772 0.00002
NM_174936.4(PCSK9):c.1483C>T (p.Arg495Trp) rs758999339 0.00002
NM_174936.4(PCSK9):c.1510G>T (p.Gly504Trp) rs374455190 0.00002
NM_174936.4(PCSK9):c.1621C>T (p.Pro541Ser) rs369996097 0.00002
NM_174936.4(PCSK9):c.1733T>A (p.Val578Glu) rs765583923 0.00002
NM_174936.4(PCSK9):c.1745G>A (p.Arg582Gln) rs745333538 0.00002
NM_174936.4(PCSK9):c.1915C>G (p.Pro639Ala) rs758249397 0.00002
NM_174936.4(PCSK9):c.1960T>C (p.Cys654Arg) rs762968029 0.00002
NM_174936.4(PCSK9):c.1981G>A (p.Val661Ile) rs375541628 0.00002
NM_174936.4(PCSK9):c.1991C>T (p.Thr664Ile) rs369851423 0.00002
NM_174936.4(PCSK9):c.2003G>T (p.Ser668Ile) rs1235101437 0.00002
NM_174936.4(PCSK9):c.22C>T (p.Arg8Trp) rs1426361407 0.00002
NM_174936.4(PCSK9):c.526G>A (p.Gly176Arg) rs141135099 0.00002
NM_174936.4(PCSK9):c.616G>A (p.Glu206Lys) rs753857795 0.00002
NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser) rs149489325 0.00002
NC_000019.10:g.11089358C>A rs934415028 0.00001
NC_000019.10:g.11089429C>T rs875989886 0.00001
NC_000019.10:g.11089434T>G rs1164871419 0.00001
NC_000019.10:g.11089447A>G rs1357531646 0.00001
NM_000384.3(APOB):c.110T>A (p.Leu37Gln) rs749171742 0.00001
NM_000384.3(APOB):c.11288T>C (p.Leu3763Pro) rs1663106152 0.00001
NM_000384.3(APOB):c.13600T>A (p.Tyr4534Asn) rs1350773223 0.00001
NM_000384.3(APOB):c.152A>G (p.Lys51Arg) rs764776276 0.00001
NM_000384.3(APOB):c.187G>A (p.Gly63Arg) rs904819460 0.00001
NM_000527.4(LDLR):c.-162G>C rs934014113 0.00001
NM_000527.5(LDLR):c.-14C>A rs879254380 0.00001
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776 0.00001
NM_000527.5(LDLR):c.1065C>G (p.Ile355Met) rs960032925 0.00001
NM_000527.5(LDLR):c.1105G>A (p.Val369Met) rs730882097 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.118A>G (p.Ile40Val) rs765969972 0.00001
NM_000527.5(LDLR):c.1234A>T (p.Met412Leu) rs1225797407 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1336C>A (p.Leu446Met) rs375651668 0.00001
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro) rs200143634 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1384G>A (p.Val462Ile) rs750363970 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu) rs201967266 0.00001
NM_000527.5(LDLR):c.1489A>G (p.Thr497Ala) rs879254920 0.00001
NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys) rs766929574 0.00001
NM_000527.5(LDLR):c.153G>C (p.Glu51Asp) rs772188884 0.00001
NM_000527.5(LDLR):c.1564A>C (p.Ile522Leu) rs774337050 0.00001
NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu) rs763884010 0.00001
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys) rs2077458389 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1771A>G (p.Asn591Asp) rs140644832 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp) rs1410295777 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.1912G>A (p.Asp638Asn) rs757672647 0.00001
NM_000527.5(LDLR):c.1957G>A (p.Val653Ile) rs879255085 0.00001
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) rs879255094 0.00001
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr) rs1182317785 0.00001
NM_000527.5(LDLR):c.2018G>A (p.Ser673Asn) rs1273197962 0.00001
NM_000527.5(LDLR):c.2097G>A (p.Pro699=) rs370835628 0.00001
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn) rs879255142 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) rs547268730 0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) rs767546791 0.00001
NM_000527.5(LDLR):c.2239C>A (p.Pro747Thr) rs1484331319 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 0.00001
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) rs761683856 0.00001
NM_000527.5(LDLR):c.2347A>C (p.Lys783Gln) rs769318961 0.00001
NM_000527.5(LDLR):c.2395C>T (p.Leu799Phe) rs72658869 0.00001
NM_000527.5(LDLR):c.239A>G (p.Asn80Ser) rs1173004910 0.00001
NM_000527.5(LDLR):c.2416G>T (p.Val806Phe) rs745429866 0.00001
NM_000527.5(LDLR):c.242G>A (p.Arg81His) rs1299591218 0.00001
NM_000527.5(LDLR):c.2440C>T (p.Arg814Trp) rs746616623 0.00001
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00001
NM_000527.5(LDLR):c.2499G>T (p.Glu833Asp) rs752936229 0.00001
NM_000527.5(LDLR):c.2529C>T (p.Asp843=) rs374635484 0.00001
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser) rs1555809614 0.00001
NM_000527.5(LDLR):c.286G>A (p.Asp96Asn) rs774858755 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala) rs1317204420 0.00001
NM_000527.5(LDLR):c.42G>C (p.Leu14Phe) rs369608025 0.00001
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) rs763233960 0.00001
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 0.00001
NM_000527.5(LDLR):c.565G>C (p.Val189Leu) rs370820135 0.00001
NM_000527.5(LDLR):c.572A>C (p.Gln191Pro) rs1423948022 0.00001
NM_000527.5(LDLR):c.620G>A (p.Gly207Asp) rs759737884 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.68-9C>G rs1284807471 0.00001
NM_000527.5(LDLR):c.688A>G (p.Asn230Asp) rs1266776177 0.00001
NM_000527.5(LDLR):c.694G>A (p.Ala232Thr) rs72658857 0.00001
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys) rs1208667598 0.00001
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr) rs879254665 0.00001
NM_000527.5(LDLR):c.758G>A (p.Arg253Gln) rs139507589 0.00001
NM_000527.5(LDLR):c.770G>A (p.Arg257Gln) rs757808215 0.00001
NM_000527.5(LDLR):c.774A>G (p.Glu258=) rs1307291980 0.00001
NM_000527.5(LDLR):c.783C>T (p.Cys261=) rs1057519663 0.00001
NM_000527.5(LDLR):c.790A>C (p.Met264Leu) rs730882088 0.00001
NM_000527.5(LDLR):c.817+5G>C rs770636985 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000527.5(LDLR):c.908G>A (p.Arg303Gln) rs730882093 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr) rs761765254 0.00001
NM_000527.5(LDLR):c.940+4A>C rs768247312 0.00001
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser) rs730882094 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_000527.5(LDLR):c.962A>G (p.Asn321Ser) rs2077360926 0.00001
NM_000527.5(LDLR):c.981C>T (p.His327=) rs1060499933 0.00001
NM_015627.3(LDLRAP1):c.115C>T (p.Arg39Trp) rs201179339 0.00001
NM_015627.3(LDLRAP1):c.208G>A (p.Ala70Thr) rs776857764 0.00001
NM_015627.3(LDLRAP1):c.223G>A (p.Val75Met) rs767491845 0.00001
NM_015627.3(LDLRAP1):c.339A>G (p.Ile113Met) rs780582666 0.00001
NM_015627.3(LDLRAP1):c.34A>G (p.Ile12Val) rs1250534468 0.00001
NM_015627.3(LDLRAP1):c.614G>A (p.Ser205Asn) rs750330964 0.00001
NM_015627.3(LDLRAP1):c.675G>A (p.Thr225=) rs926407411 0.00001
NM_015627.3(LDLRAP1):c.842T>C (p.Met281Thr) rs1047410438 0.00001
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys) rs371030381 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_174936.4(PCSK9):c.1148G>A (p.Ser383Asn) rs942292612 0.00001
NM_174936.4(PCSK9):c.1169C>T (p.Ala390Val) rs1313288327 0.00001
NM_174936.4(PCSK9):c.1181G>T (p.Gly394Val) rs376066497 0.00001
NM_174936.4(PCSK9):c.118G>A (p.Glu40Lys) rs1416330878 0.00001
NM_174936.4(PCSK9):c.1211C>T (p.Pro404Leu) rs140072072 0.00001
NM_174936.4(PCSK9):c.1247T>C (p.Ile416Thr) rs1343534206 0.00001
NM_174936.4(PCSK9):c.1273A>G (p.Asn425Asp) rs1644730027 0.00001
NM_174936.4(PCSK9):c.1276G>A (p.Glu426Lys) rs1207777134 0.00001
NM_174936.4(PCSK9):c.1301G>A (p.Arg434Gln) rs1416309628 0.00001
NM_174936.4(PCSK9):c.1310C>A (p.Thr437Asn) rs746134573 0.00001
NM_174936.4(PCSK9):c.1371C>G (p.Cys457Trp) rs771108863 0.00001
NM_174936.4(PCSK9):c.1406G>A (p.Arg469Gln) rs1340689002 0.00001
NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys) rs761767572 0.00001
NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys) rs1278890129 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.1503G>A (p.Glu501=) rs986151799 0.00001
NM_174936.4(PCSK9):c.1528C>T (p.Arg510Trp) rs751649334 0.00001
NM_174936.4(PCSK9):c.1529G>A (p.Arg510Gln) rs757804293 0.00001
NM_174936.4(PCSK9):c.1540G>A (p.Ala514Thr) rs1447116791 0.00001
NM_174936.4(PCSK9):c.1564G>A (p.Ala522Thr) rs777300852 0.00001
NM_174936.4(PCSK9):c.1643C>A (p.Thr548Asn) rs368156218 0.00001
NM_174936.4(PCSK9):c.1645C>T (p.Arg549Cys) rs763298843 0.00001
NM_174936.4(PCSK9):c.1652A>T (p.His551Leu) rs1287224147 0.00001
NM_174936.4(PCSK9):c.1672G>A (p.Val558Ile) rs1277680499 0.00001
NM_174936.4(PCSK9):c.1690T>G (p.Ser564Ala) rs1263043577 0.00001
NM_174936.4(PCSK9):c.1696T>C (p.Trp566Arg) rs111563724 0.00001
NM_174936.4(PCSK9):c.1765G>A (p.Val589Met) rs372586224 0.00001
NM_174936.4(PCSK9):c.1807G>A (p.Ala603Thr) rs1245161747 0.00001
NM_174936.4(PCSK9):c.1850C>A (p.Ala617Asp) rs754936553 0.00001
NM_174936.4(PCSK9):c.1867A>G (p.Thr623Ala) rs769112641 0.00001
NM_174936.4(PCSK9):c.1870G>A (p.Val624Met) rs760437822 0.00001
NM_174936.4(PCSK9):c.1886G>A (p.Gly629Asp) rs1261496250 0.00001
NM_174936.4(PCSK9):c.1927C>G (p.His643Asp) rs759818065 0.00001
NM_174936.4(PCSK9):c.1939G>T (p.Ala647Ser) rs141438059 0.00001
NM_174936.4(PCSK9):c.1951G>T (p.Asp651Tyr) rs770716587 0.00001
NM_174936.4(PCSK9):c.2004C>A (p.Ser668Arg) rs762298323 0.00001
NM_174936.4(PCSK9):c.2014G>A (p.Val672Met) rs892210400 0.00001
NM_174936.4(PCSK9):c.2023del (p.Val675fs) rs772102827 0.00001
NM_174936.4(PCSK9):c.2065C>T (p.Gln689Ter) rs769487037 0.00001
NM_174936.4(PCSK9):c.219G>T (p.Arg73Ser) rs376944580 0.00001
NM_174936.4(PCSK9):c.242T>A (p.Val81Glu) rs1048283339 0.00001
NM_174936.4(PCSK9):c.253G>A (p.Glu85Lys) rs774506287 0.00001
NM_174936.4(PCSK9):c.2T>G (p.Met1Arg) rs1209186979 0.00001
NM_174936.4(PCSK9):c.313C>T (p.Arg105Trp) rs747072726 0.00001
NM_174936.4(PCSK9):c.34C>A (p.Pro12Thr) rs968023760 0.00001
NM_174936.4(PCSK9):c.352C>T (p.Leu118Phe) rs72658891 0.00001
NM_174936.4(PCSK9):c.35C>T (p.Pro12Leu) rs760558712 0.00001
NM_174936.4(PCSK9):c.400-4G>T rs751873016 0.00001
NM_174936.4(PCSK9):c.401C>A (p.Ala134Asp) rs781466793 0.00001
NM_174936.4(PCSK9):c.404T>C (p.Leu135Ser) rs745916051 0.00001
NM_174936.4(PCSK9):c.421G>A (p.Asp141Asn) rs769000401 0.00001
NM_174936.4(PCSK9):c.464C>T (p.Pro155Leu) rs775429340 0.00001
NM_174936.4(PCSK9):c.478C>T (p.Arg160Trp) rs200505188 0.00001
NM_174936.4(PCSK9):c.503C>T (p.Ala168Val) rs770592607 0.00001
NM_174936.4(PCSK9):c.529G>T (p.Gly177Cys) rs778157885 0.00001
NM_174936.4(PCSK9):c.530G>A (p.Gly177Asp) rs368899514 0.00001
NM_174936.4(PCSK9):c.533G>A (p.Ser178Asn) rs755818478 0.00001
NM_174936.4(PCSK9):c.592G>A (p.Gly198Ser) rs764087262 0.00001
NM_174936.4(PCSK9):c.611A>G (p.Asp204Gly) rs1469436928 0.00001
NM_174936.4(PCSK9):c.628G>A (p.Glu210Lys) rs1302868036 0.00001
NM_174936.4(PCSK9):c.637G>A (p.Gly213Arg) rs267598661 0.00001
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys) rs753505066 0.00001
NM_174936.4(PCSK9):c.658G>A (p.Ala220Thr) rs768795323 0.00001
NM_174936.4(PCSK9):c.70G>A (p.Gly24Ser) rs1479030404 0.00001
NM_174936.4(PCSK9):c.710G>A (p.Arg237Gln) rs758109994 0.00001
NM_174936.4(PCSK9):c.718G>A (p.Gly240Ser) rs751048732 0.00001
NM_174936.4(PCSK9):c.724G>A (p.Ala242Thr) rs1238510123 0.00001
NM_174936.4(PCSK9):c.743G>A (p.Arg248His) rs749573024 0.00001
NM_174936.4(PCSK9):c.747C>A (p.Ser249Arg) rs768846693 0.00001
NM_174936.4(PCSK9):c.751C>T (p.Arg251Cys) rs778900671 0.00001
NM_174936.4(PCSK9):c.772A>G (p.Lys258Glu) rs771479424 0.00001
NM_174936.4(PCSK9):c.779C>T (p.Thr260Met) rs777111934 0.00001
NM_174936.4(PCSK9):c.77C>T (p.Ala26Val) rs1413443246 0.00001
NM_174936.4(PCSK9):c.781G>C (p.Val261Leu) rs1644685409 0.00001
NM_174936.4(PCSK9):c.839T>C (p.Val280Ala) rs1000735676 0.00001
NM_174936.4(PCSK9):c.884G>A (p.Arg295His) rs775707869 0.00001
NM_174936.4(PCSK9):c.886G>A (p.Val296Ile) rs771594920 0.00001
NM_174936.4(PCSK9):c.905A>G (p.Gln302Arg) rs759388119 0.00001
NM_174936.4(PCSK9):c.914C>T (p.Ala305Val) rs1239236028 0.00001
NM_174936.4(PCSK9):c.955C>T (p.Arg319Trp) rs746442570 0.00001
NM_174936.4(PCSK9):c.961G>A (p.Asp321Asn) rs780509319 0.00001
NM_174936.4(PCSK9):c.97G>A (p.Asp33Asn) rs917219621 0.00001
NC_000019.10:g.11089319del
NC_000019.10:g.11089321G>C
NC_000019.10:g.11089332C>G rs17249141
NC_000019.10:g.11089334A>C
NC_000019.10:g.11089342T>C
NC_000019.10:g.11089362C>T rs2077054466
NC_000019.10:g.11089371T>C
NC_000019.10:g.11089383A>C
NC_000019.10:g.11089391A>T
NC_000019.10:g.11089393C>T rs879254364
NC_000019.10:g.11089398C>A
NC_000019.10:g.11089407C>G rs879254370
NC_000019.10:g.11089410C>T rs879254371
NC_000019.10:g.11089411del rs387906307
NC_000019.10:g.11089412C>T rs879254373
NC_000019.10:g.11089413C>A rs879254374
NC_000019.10:g.11089448T>C rs747068848
NC_000019.10:g.11089452G>A rs944580031
NC_000019.10:g.11089455G>T rs1212116636
NC_000019.10:g.11089460C>T
NC_000019.10:g.11089461G>A
NC_000019.10:g.11136960G>T
NC_000019.9:g.(?_10912954)_(11200309_?)dup
NC_000019.9:g.(?_11199955)_(11200311_?)dup
NC_000019.9:g.(?_11210879)_(11221467_?)dup
NC_000019.9:g.(?_11221308)_(11234040_?)dup
NC_000019.9:g.(?_11233830)_(11242035_?)dup
NC_000019.9:g.(?_11238664)_(11238781_?)dup
NC_000019.9:g.(?_11241937)_(11241992_?)dup
NG_009060.1(LDLR):g.4976CTC[2] rs1270618112
NM_000041.4(APOE):c.237-4G>T
NM_000041.4(APOE):c.873G>C (p.Gln291His)
NM_000384.3(APOB):c.10072A>C (p.Asn3358His) rs1663155110
NM_000384.3(APOB):c.10147G>A (p.Gly3383Ser) rs1663152041
NM_000384.3(APOB):c.10540G>A (p.Ala3514Thr) rs747633151
NM_000384.3(APOB):c.128C>T (p.Ala43Val) rs780841518
NM_000384.3(APOB):c.13320del (p.Glu4441fs) rs750076573
NM_000384.3(APOB):c.13642A>G (p.Met4548Val) rs1160435341
NM_000384.3(APOB):c.13648C>A (p.Pro4550Thr) rs1191443988
NM_000384.3(APOB):c.13672G>A (p.Glu4558Lys) rs1662980631
NM_000384.3(APOB):c.13678A>G (p.Thr4560Ala) rs1662980568
NM_000384.3(APOB):c.143A>T (p.His48Leu) rs1415387096
NM_000384.3(APOB):c.154T>C (p.Tyr52His)
NM_000384.3(APOB):c.157A>T (p.Thr53Ser) rs1553301271
NM_000384.3(APOB):c.202G>A (p.Ala68Thr) rs1558577786
NM_000384.3(APOB):c.215G>A (p.Ser72Asn) rs759881866
NM_000384.3(APOB):c.6047A>G (p.Asp2016Gly)
NM_000384.3(APOB):c.6592A>G (p.Ile2198Val)
NM_000384.3(APOB):c.9105T>A (p.Asn3035Lys) rs147510760
NM_000527.4(LDLR):c.-107T>C rs1568582310
NM_000527.4(LDLR):c.-120C>A rs875989886
NM_000527.4(LDLR):c.-122C>T rs1568582299
NM_000527.4(LDLR):c.-133C>T rs2077055227
NM_000527.4(LDLR):c.-139_-130delCTCCCCCTGC rs2077055015
NM_000527.4(LDLR):c.-169G>C rs1230170597
NM_000527.4(LDLR):c.-172G>A rs1555800629
NM_000527.5(LDLR):c.*2098C>G
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.-190C>T rs2077054428
NM_000527.5(LDLR):c.-22C>T
NM_000527.5(LDLR):c.-23A>G rs763282380
NM_000527.5(LDLR):c.-45A>T rs2147186240
NM_000527.5(LDLR):c.-48A>G
NM_000527.5(LDLR):c.-55_-52del rs2077055920
NM_000527.5(LDLR):c.-56T>C
NM_000527.5(LDLR):c.-74del
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg) rs544453230
NM_000527.5(LDLR):c.1006T>G (p.Tyr336Asp) rs759398558
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.5(LDLR):c.1010A>G (p.Glu337Gly) rs2077362818
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1060+133C>T
NM_000527.5(LDLR):c.1067_1068insAGAGTGTCAGGATCCCGA (p.Ile355_Asp356insGluGluCysGlnAspPro)
NM_000527.5(LDLR):c.1075C>A (p.Gln359Lys)
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
NM_000527.5(LDLR):c.1088C>T (p.Thr363Ile)
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.5(LDLR):c.109G>A (p.Gly37Arg) rs2077193497
NM_000527.5(LDLR):c.1127A>T (p.Lys376Met) rs2077377185
NM_000527.5(LDLR):c.1145G>A (p.Gly382Asp) rs752951310
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.114A>C (p.Lys38Asn) rs2147210320
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu) rs879254810
NM_000527.5(LDLR):c.115T>C (p.Cys39Arg) rs1555802275
NM_000527.5(LDLR):c.1162C>G (p.His388Asp) rs764551797
NM_000527.5(LDLR):c.1169A>G (p.Lys390Arg) rs2077378748
NM_000527.5(LDLR):c.1171G>C (p.Ala391Pro)
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.5(LDLR):c.1179G>T (p.Lys393Asn) rs879254816
NM_000527.5(LDLR):c.117C>T (p.Cys39=) rs2077193721
NM_000527.5(LDLR):c.1180G>T (p.Ala394Ser) rs2077379274
NM_000527.5(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.5(LDLR):c.1187G>C (p.Gly396Ala)
NM_000527.5(LDLR):c.1187G>T (p.Gly396Val) rs766474188
NM_000527.5(LDLR):c.1189T>C (p.Ser397Pro) rs879254825
NM_000527.5(LDLR):c.1190C>T (p.Ser397Phe) rs2077406646
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1221C>A (p.His407Gln)
NM_000527.5(LDLR):c.122C>T (p.Ser41Phe) rs567126042
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.5(LDLR):c.125A>G (p.Tyr42Cys) rs2077193966
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg) rs752942769
NM_000527.5(LDLR):c.1264C>T (p.Leu422Phe) rs2077409172
NM_000527.5(LDLR):c.1270C>A (p.Pro424Thr)
NM_000527.5(LDLR):c.1271C>T (p.Pro424Leu) rs868801795
NM_000527.5(LDLR):c.1273A>G (p.Asn425Asp) rs1327586053
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1306G>A (p.Val436Met) rs2147247608
NM_000527.5(LDLR):c.1309G>A (p.Ala437Thr) rs1223171296
NM_000527.5(LDLR):c.1309G>C (p.Ala437Pro)
NM_000527.5(LDLR):c.1316A>G (p.Asn439Ser)
NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys) rs879254860
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.5(LDLR):c.132G>C (p.Trp44Cys) rs1555802287
NM_000527.5(LDLR):c.133G>A (p.Val45Ile)
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys) rs879254870
NM_000527.5(LDLR):c.1340C>T (p.Ser447Phe)
NM_000527.5(LDLR):c.1346G>T (p.Arg449Ile)
NM_000527.5(LDLR):c.134T>G (p.Val45Gly) rs1600700584
NM_000527.5(LDLR):c.1357A>G (p.Ser453Gly)
NM_000527.5(LDLR):c.1359-14del
NM_000527.5(LDLR):c.1359-26_1359-23del
NM_000527.5(LDLR):c.1359-30C>A
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe) rs761004553
NM_000527.5(LDLR):c.1369G>C (p.Asp457His)
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly) rs1057516128
NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn) rs2077416170
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.5(LDLR):c.1422G>T (p.Gln474His) rs2147248583
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1427C>G (p.Pro476Arg)
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1431C>G (p.Asp477Glu)
NM_000527.5(LDLR):c.1450A>G (p.Ile484Val) rs2147248832
NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn) rs879254910
NM_000527.5(LDLR):c.145A>C (p.Ser49Arg) rs2077194647
NM_000527.5(LDLR):c.1460_1462del (p.Asn487del) rs879254911
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1471A>G (p.Thr491Ala)
NM_000527.5(LDLR):c.1484T>G (p.Leu495Arg) rs1370312225
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.1492G>C (p.Val498Leu)
NM_000527.5(LDLR):c.1516G>C (p.Val506Leu) rs373848925
NM_000527.5(LDLR):c.1533A>T (p.Leu511Phe) rs1568604780
NM_000527.5(LDLR):c.1540G>A (p.Glu514Lys) rs1555805507
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg) rs879254938
NM_000527.5(LDLR):c.1554G>C (p.Lys518Asn)
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr) rs875989923
NM_000527.5(LDLR):c.1559G>T (p.Arg520Met)
NM_000527.5(LDLR):c.1564A>G (p.Ile522Val) rs774337050
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1574A>C (p.Asp525Ala) rs879254943
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu) rs763884010
NM_000527.5(LDLR):c.1579G>A (p.Val527Ile) rs758890891
NM_000527.5(LDLR):c.1583A>G (p.His528Arg) rs1489999751
NM_000527.5(LDLR):c.1585G>T (p.Gly529Cys)
NM_000527.5(LDLR):c.1586+4C>A
NM_000527.5(LDLR):c.1586+4C>G
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1587-3C>A
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.5(LDLR):c.1595A>G (p.Tyr532Cys) rs1060499925
NM_000527.5(LDLR):c.1597T>G (p.Trp533Gly) rs879254951
NM_000527.5(LDLR):c.1599G>T (p.Trp533Cys)
NM_000527.5(LDLR):c.1600_1608del (p.Thr534_Trp536del) rs879254953
NM_000527.5(LDLR):c.1603G>C (p.Asp535His)
NM_000527.5(LDLR):c.1609G>C (p.Gly537Arg)
NM_000527.5(LDLR):c.1612A>G (p.Thr538Ala) rs879254960
NM_000527.5(LDLR):c.1613C>T (p.Thr538Ile) rs776225771
NM_000527.5(LDLR):c.1615C>T (p.Pro539Ser) rs1222664147
NM_000527.5(LDLR):c.161A>C (p.Asp54Ala) rs2147210651
NM_000527.5(LDLR):c.1622A>G (p.Lys541Arg)
NM_000527.5(LDLR):c.1631A>C (p.Lys544Thr) rs2077459016
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala) rs28941776
NM_000527.5(LDLR):c.1649T>G (p.Val550Gly) rs2077459810
NM_000527.5(LDLR):c.1654A>G (p.Ile552Val) rs2077459948
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_000527.5(LDLR):c.1659_1660insGAG (p.Tyr553_Ser554insGlu) rs2147255468
NM_000527.5(LDLR):c.1663C>A (p.Leu555Met) rs2077460352
NM_000527.5(LDLR):c.1670C>T (p.Thr557Ile)
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup) rs879254983
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys) rs879254985
NM_000527.5(LDLR):c.1687C>A (p.Pro563Thr) rs879254986
NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del) rs879254421
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1699A>G (p.Thr567Ala) rs1600733170
NM_000527.5(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.5(LDLR):c.169G>C (p.Asp57His)
NM_000527.5(LDLR):c.1706-5T>A rs1161843170
NM_000527.5(LDLR):c.1706A>T (p.Asp569Val) rs2147257169
NM_000527.5(LDLR):c.1708CTC[1] (p.Leu571del)
NM_000527.5(LDLR):c.170A>G (p.Asp57Gly) rs1555802310
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1732G>T (p.Val578Phe) rs1301458707
NM_000527.5(LDLR):c.1739C>G (p.Ser580Cys) rs934496989
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.1765G>C (p.Asp589His) rs201971888
NM_000527.5(LDLR):c.1772_1773inv (p.Asn591Ser)
NM_000527.5(LDLR):c.1773_1776delinsT (p.Gly593del) rs2077473508
NM_000527.5(LDLR):c.1777G>T (p.Gly593Cys) rs544456198
NM_000527.5(LDLR):c.1782C>G (p.Asn594Lys) rs763027570
NM_000527.5(LDLR):c.1786A>G (p.Lys596Glu) rs879255021
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly) rs879255027
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg) rs1302327551
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1819C>T (p.His607Tyr) rs1555806536
NM_000527.5(LDLR):c.181G>A (p.Glu61Lys) rs2077195468
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro) rs2077475503
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.5(LDLR):c.1845+5G>C rs2077476213
NM_000527.5(LDLR):c.1845+6G>T
NM_000527.5(LDLR):c.1846-8C>G rs1600742028
NM_000527.5(LDLR):c.1846-9C>A rs1568610732
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1862C>T (p.Thr621Ile) rs879255058
NM_000527.5(LDLR):c.1867A>T (p.Ile623Phe)
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1880C>G (p.Ala627Gly) rs875989934
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr) rs879255067
NM_000527.5(LDLR):c.1888A>G (p.Ser630Gly) rs2077524048
NM_000527.5(LDLR):c.1889G>C (p.Ser630Thr) rs2077524086
NM_000527.5(LDLR):c.1890T>G (p.Ser630Arg) rs1292632022
NM_000527.5(LDLR):c.190+4_190+7del rs2147210820
NM_000527.5(LDLR):c.1909T>A (p.Ser637Thr)
NM_000527.5(LDLR):c.191-15C>G rs749245318
NM_000527.5(LDLR):c.191-3T>G rs2077229353
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.5(LDLR):c.1948G>A (p.Glu650Lys) rs768724935
NM_000527.5(LDLR):c.1954A>T (p.Met652Leu) rs730882111
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1958_1959delinsCC (p.Val653Ala) rs2077526251
NM_000527.5(LDLR):c.1970A>G (p.Asn657Ser)
NM_000527.5(LDLR):c.1981C>G (p.Pro661Ala) rs1182317785
NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys) rs1568611349
NM_000527.5(LDLR):c.1987+5G>A rs2077527479
NM_000527.5(LDLR):c.1987+6G>C rs752382813
NM_000527.5(LDLR):c.1987G>A (p.Gly663Arg) rs878951797
NM_000527.5(LDLR):c.1990G>A (p.Val664Met) rs879255103
NM_000527.5(LDLR):c.1993A>T (p.Asn665Tyr) rs2077529922
NM_000527.5(LDLR):c.2009C>T (p.Thr670Ile)
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.202T>G (p.Cys68Gly) rs1057519652
NM_000527.5(LDLR):c.2039T>C (p.Leu680Pro) rs1555807379
NM_000527.5(LDLR):c.203G>T (p.Cys68Phe) rs2077229853
NM_000527.5(LDLR):c.2048C>T (p.Pro683Leu) rs766765648
NM_000527.5(LDLR):c.2059A>T (p.Ile687Phe) rs1060499932
NM_000527.5(LDLR):c.2068C>T (p.His690Tyr)
NM_000527.5(LDLR):c.2077A>C (p.Lys693Gln)
NM_000527.5(LDLR):c.2083A>C (p.Thr695Pro) rs1600744007
NM_000527.5(LDLR):c.2083A>G (p.Thr695Ala) rs1600744007
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr) rs776217028
NM_000527.5(LDLR):c.2093G>C (p.Cys698Ser) rs879255136
NM_000527.5(LDLR):c.2103C>T (p.Gly701=) rs2147266491
NM_000527.5(LDLR):c.2123T>C (p.Met708Thr) rs373839317
NM_000527.5(LDLR):c.2124GAG[1] (p.Arg709del) rs2077535269
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly) rs1057519684
NM_000527.5(LDLR):c.2127_2128delinsCT (p.Arg709_Ser710delinsSerCys) rs2147266595
NM_000527.5(LDLR):c.2131T>C (p.Cys711Arg) rs879255144
NM_000527.5(LDLR):c.2138C>G (p.Thr713Arg) rs1218776502
NM_000527.5(LDLR):c.2138C>T (p.Thr713Ile)
NM_000527.5(LDLR):c.2141-7C>A rs2147272729
NM_000527.5(LDLR):c.2141A>C (p.Glu714Ala)
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.5(LDLR):c.2147A>C (p.Glu716Ala) rs2147272755
NM_000527.5(LDLR):c.2161A>G (p.Thr721Ala) rs2077583367
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile) rs879255154
NM_000527.5(LDLR):c.2180T>A (p.Val727Asp) rs1568614490
NM_000527.5(LDLR):c.2190G>T (p.Lys730Asn)
NM_000527.5(LDLR):c.2205C>T (p.Ala735=) rs763213863
NM_000527.5(LDLR):c.2207T>G (p.Val736Gly)
NM_000527.5(LDLR):c.2227A>G (p.Thr743Ala) rs2147273100
NM_000527.5(LDLR):c.2228C>T (p.Thr743Ile)
NM_000527.5(LDLR):c.2234C>T (p.Pro745Leu)
NM_000527.5(LDLR):c.2239C>T (p.Pro747Ser) rs1484331319
NM_000527.5(LDLR):c.223T>G (p.Cys75Gly)
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2269C>G (p.Pro757Ala) rs1568614801
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2273G>A (p.Gly758Glu) rs748540948
NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala) rs748540948
NM_000527.5(LDLR):c.2273G>T (p.Gly758Val)
NM_000527.5(LDLR):c.2291T>G (p.Ile764Arg) rs759440817
NM_000527.5(LDLR):c.2305C>T (p.His769Tyr)
NM_000527.5(LDLR):c.2308C>G (p.Gln770Glu) rs763625913
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2315T>C (p.Leu772Pro) rs754328605
NM_000527.5(LDLR):c.2320G>T (p.Asp774Tyr) rs138190838
NM_000527.5(LDLR):c.2326G>C (p.Ala776Pro)
NM_000527.5(LDLR):c.2330G>T (p.Gly777Val)
NM_000527.5(LDLR):c.2350C>T (p.Pro784Ser) rs2077661446
NM_000527.5(LDLR):c.2356A>T (p.Ser786Cys) rs730882114
NM_000527.5(LDLR):c.2365G>T (p.Ala789Ser)
NM_000527.5(LDLR):c.2366C>G (p.Ala789Gly) rs1286799492
NM_000527.5(LDLR):c.236T>A (p.Val79Asp)
NM_000527.5(LDLR):c.2374A>G (p.Ile792Val)
NM_000527.5(LDLR):c.2381T>A (p.Leu794His)
NM_000527.5(LDLR):c.2386A>G (p.Ile796Val)
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389+5G>C rs879255191
NM_000527.5(LDLR):c.2389+5G>T rs879255191
NM_000527.5(LDLR):c.2389G>C (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.5(LDLR):c.2408G>C (p.Cys803Ser)
NM_000527.5(LDLR):c.2408_2425dup (p.Leu808_Leu809insArgLeuGlyValPheLeu)
NM_000527.5(LDLR):c.2412G>A (p.Leu804=) rs2077686564
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2430G>C (p.Trp810Cys)
NM_000527.5(LDLR):c.2432A>G (p.Lys811Arg)
NM_000527.5(LDLR):c.2442del (p.Lys816fs) rs2147287002
NM_000527.5(LDLR):c.2444T>A (p.Leu815His) rs2077687532
NM_000527.5(LDLR):c.2452A>G (p.Ile818Val) rs2147287069
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.2480T>A (p.Val827Asp) rs2077688361
NM_000527.5(LDLR):c.248T>C (p.Ile83Thr) rs1555802745
NM_000527.5(LDLR):c.2497G>A (p.Glu833Lys) rs1568619741
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.5(LDLR):c.2534A>G (p.Tyr845Cys) rs1568619827
NM_000527.5(LDLR):c.2536_2538del (p.Ser846del)
NM_000527.5(LDLR):c.2540A>C (p.Tyr847Ser) rs2077690044
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000527.5(LDLR):c.2547G>A (p.Ser849=) rs1249903899
NM_000527.5(LDLR):c.2549_2550del rs1555809910
NM_000527.5(LDLR):c.2551_2554del (p.Gln851fs) rs878854029
NM_000527.5(LDLR):c.2557G>C (p.Val853Leu)
NM_000527.5(LDLR):c.2561G>A (p.Ser854Asn) rs2077714879
NM_000527.5(LDLR):c.2561G>C (p.Ser854Thr) rs2077714879
NM_000527.5(LDLR):c.2563C>A (p.Leu855Met) rs775803775
NM_000527.5(LDLR):c.293G>C (p.Gly98Ala) rs2077232672
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+1_313+2dup rs2077233623
NM_000527.5(LDLR):c.313+3_313+6del rs2147217534
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.313+5G>C rs879254467
NM_000527.5(LDLR):c.313+6T>G rs879254468
NM_000527.5(LDLR):c.314-3C>A
NM_000527.5(LDLR):c.314-6C>G rs2147223016
NM_000527.5(LDLR):c.317C>G (p.Pro106Arg) rs1365623011
NM_000527.5(LDLR):c.31A>T (p.Thr11Ser) rs1600683674
NM_000527.5(LDLR):c.323C>A (p.Thr108Lys) rs750126678
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn) rs730882080
NM_000527.5(LDLR):c.355G>A (p.Gly119Arg) rs869320648
NM_000527.5(LDLR):c.364A>C (p.Ile122Leu)
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495
NM_000527.5(LDLR):c.368C>G (p.Ser123Cys) rs2077268470
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp) rs879254498
NM_000527.5(LDLR):c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal) rs2077268697
NM_000527.5(LDLR):c.371G>C (p.Arg124Pro) rs929536329
NM_000527.5(LDLR):c.380T>C (p.Val127Ala)
NM_000527.5(LDLR):c.385G>A (p.Asp129Asn) rs2077269298
NM_000527.5(LDLR):c.386A>C (p.Asp129Ala)
NM_000527.5(LDLR):c.387C>G (p.Asp129Glu)
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr) rs879254508
NM_000527.5(LDLR):c.394C>G (p.Arg132Gly) rs368978979
NM_000527.5(LDLR):c.394C>T (p.Arg132Trp) rs368978979
NM_000527.5(LDLR):c.396G>A (p.Arg132=) rs2077269758
NM_000527.5(LDLR):c.397G>A (p.Asp133Asn) rs879254513
NM_000527.5(LDLR):c.406G>A (p.Asp136Asn) rs2077270167
NM_000527.5(LDLR):c.425C>T (p.Ser142Phe)
NM_000527.5(LDLR):c.431C>G (p.Pro144Arg)
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu) rs912448894
NM_000527.5(LDLR):c.449C>A (p.Pro150His)
NM_000527.5(LDLR):c.451G>T (p.Ala151Ser)
NM_000527.5(LDLR):c.462G>C (p.Gln154His) rs2077272207
NM_000527.5(LDLR):c.466_471del (p.Asn156_Ser157del)
NM_000527.5(LDLR):c.46C>G (p.Leu16Val) rs2077058105
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn) rs754933794
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro) rs879254544
NM_000527.5(LDLR):c.494G>T (p.Trp165Leu)
NM_000527.5(LDLR):c.496G>A (p.Ala166Thr) rs2077273342
NM_000527.5(LDLR):c.497C>A (p.Ala166Asp)
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.500G>C (p.Cys167Ser) rs879254548
NM_000527.5(LDLR):c.509A>G (p.Asp170Gly)
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.5(LDLR):c.511C>A (p.Pro171Thr)
NM_000527.5(LDLR):c.536A>C (p.Glu179Ala)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.547C>A (p.Arg183Ser) rs757292254
NM_000527.5(LDLR):c.547C>T (p.Arg183Cys) rs757292254
NM_000527.5(LDLR):c.553A>T (p.Arg185Trp) rs2147224605
NM_000527.5(LDLR):c.562T>G (p.Tyr188Asp)
NM_000527.5(LDLR):c.56C>G (p.Ala19Gly) rs879254392
NM_000527.5(LDLR):c.56C>T (p.Ala19Val) rs879254392
NM_000527.5(LDLR):c.574G>C (p.Gly192Arg) rs2077276377
NM_000527.5(LDLR):c.585C>A (p.Ser195Arg) rs756880555
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.593C>T (p.Ser198Leu) rs748672083
NM_000527.5(LDLR):c.605T>G (p.Phe202Cys) rs879254590
NM_000527.5(LDLR):c.613C>G (p.Leu205Val) rs1131692196
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn) rs879254601
NM_000527.5(LDLR):c.635C>T (p.Ser212Phe) rs1435097227
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.5(LDLR):c.639C>G (p.Ser213Arg) rs760616999
NM_000527.5(LDLR):c.640T>C (p.Trp214Arg) rs1600711159
NM_000527.5(LDLR):c.650A>G (p.Asp217Gly) rs2077279531
NM_000527.5(LDLR):c.650A>T (p.Asp217Val) rs2077279531
NM_000527.5(LDLR):c.658C>T (p.Pro220Ser) rs2077280086
NM_000527.5(LDLR):c.658_659delinsTGTGATGG (p.Pro220delinsCysAspGly)
NM_000527.5(LDLR):c.663C>G (p.Asp221Glu) rs2077280675
NM_000527.5(LDLR):c.665_673dup (p.Asp224_Lys225insSerLysAsp) rs2147225506
NM_000527.5(LDLR):c.666C>T (p.Cys222=) rs756613387
NM_000527.5(LDLR):c.67+5G>T rs372349543
NM_000527.5(LDLR):c.67+6G>T
NM_000527.5(LDLR):c.673_675inv (p.Lys225Phe)
NM_000527.5(LDLR):c.676_677delinsAA (p.Ser226Asn) rs2147225692
NM_000527.5(LDLR):c.677C>T (p.Ser226Phe)
NM_000527.5(LDLR):c.689A>T (p.Asn230Ile) rs2077283326
NM_000527.5(LDLR):c.694+6G>A rs1019330092
NM_000527.5(LDLR):c.694G>T (p.Ala232Ser) rs72658857
NM_000527.5(LDLR):c.695-10T>G
NM_000527.5(LDLR):c.695-5T>A
NM_000527.5(LDLR):c.706T>A (p.Cys236Ser) rs879254655
NM_000527.5(LDLR):c.712C>G (p.Pro238Ala) rs376963526
NM_000527.5(LDLR):c.715G>A (p.Asp239Asn)
NM_000527.5(LDLR):c.750T>A (p.His250Gln) rs141929940
NM_000527.5(LDLR):c.750T>C (p.His250=) rs141929940
NM_000527.5(LDLR):c.752G>A (p.Gly251Asp)
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.768C>A (p.Asp256Glu) rs879254671
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.776A>C (p.Tyr259Ser) rs2077300176
NM_000527.5(LDLR):c.780C>A (p.Asp260Glu) rs2077300275
NM_000527.5(LDLR):c.792G>A (p.Met264Ile) rs1200173530
NM_000527.5(LDLR):c.802G>A (p.Val268Ile)
NM_000527.5(LDLR):c.80G>A (p.Cys27Tyr)
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr) rs202213054
NM_000527.5(LDLR):c.817+6C>T
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.845T>C (p.Phe282Ser) rs2077311848
NM_000527.5(LDLR):c.848A>C (p.Lys283Thr)
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
NM_000527.5(LDLR):c.854A>G (p.His285Arg) rs1555803855
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.887G>C (p.Cys296Ser) rs879254707
NM_000527.5(LDLR):c.893T>C (p.Met298Thr)
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr) rs879254711
NM_000527.5(LDLR):c.899G>A (p.Arg300Lys) rs2077313724
NM_000527.5(LDLR):c.904T>G (p.Cys302Gly) rs1555803891
NM_000527.5(LDLR):c.90C>G (p.Asn30Lys) rs72658855
NM_000527.5(LDLR):c.915G>T (p.Trp305Cys) rs757252110
NM_000527.5(LDLR):c.928A>T (p.Ile310Phe)
NM_000527.5(LDLR):c.929T>A (p.Ile310Asn) rs879254722
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.935A>G (p.Glu312Gly)
NM_000527.5(LDLR):c.936G>T (p.Glu312Asp) rs2077315472
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.940+3G>A rs1568598062
NM_000527.5(LDLR):c.940+6T>C
NM_000527.5(LDLR):c.941-7T>G
NM_000527.5(LDLR):c.944C>T (p.Thr315Ile) rs2077360211
NM_000527.5(LDLR):c.948C>G (p.Asn316Lys) rs780673258
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.5(LDLR):c.966C>A (p.Asn322Lys) rs567080879
NM_000527.5(LDLR):c.970G>T (p.Gly324Cys) rs72658860
NM_000527.5(LDLR):c.976T>C (p.Ser326Pro) rs2077361498
NM_000527.5(LDLR):c.980A>C (p.His327Pro) rs2077361686
NM_000527.5(LDLR):c.988A>G (p.Asn330Asp) rs730882095
NM_005502.4(ABCA1):c.4799A>T (p.His1600Leu) rs1554704214
NM_015627.3(LDLRAP1):c.459+6C>A rs762507383
NM_015627.3(LDLRAP1):c.656C>G (p.Ala219Gly) rs1448386026
NM_015627.3(LDLRAP1):c.673A>G (p.Thr225Ala) rs767432973
NM_015627.3(LDLRAP1):c.682G>A (p.Ala228Thr) rs1242550557
NM_174936.3(PCSK9):c.-308A>G
NM_174936.4(PCSK9):c.1002C>G (p.Ile334Met) rs1252162207
NM_174936.4(PCSK9):c.1026_1028delinsGGG (p.Asp343Gly) rs2100320056
NM_174936.4(PCSK9):c.1031A>G (p.Gln344Arg) rs2100320153
NM_174936.4(PCSK9):c.1082T>A (p.Leu361His)
NM_174936.4(PCSK9):c.1096G>A (p.Glu366Lys) rs1644723918
NM_174936.4(PCSK9):c.1099G>T (p.Asp367Tyr) rs141867978
NM_174936.4(PCSK9):c.10G>C (p.Val4Leu) rs186669805
NM_174936.4(PCSK9):c.1119C>A (p.Ser373Arg) rs139683719
NM_174936.4(PCSK9):c.1119C>G (p.Ser373Arg) rs139683719
NM_174936.4(PCSK9):c.1123T>G (p.Cys375Gly) rs1644724189
NM_174936.4(PCSK9):c.1130C>A (p.Thr377Asn) rs760947578
NM_174936.4(PCSK9):c.1130C>G (p.Thr377Ser) rs760947578
NM_174936.4(PCSK9):c.1132T>G (p.Cys378Gly)
NM_174936.4(PCSK9):c.1134C>G (p.Cys378Trp) rs776752113
NM_174936.4(PCSK9):c.1147A>C (p.Ser383Arg) rs1644724470
NM_174936.4(PCSK9):c.115G>A (p.Glu39Lys) rs781590513
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1187C>T (p.Ala396Val) rs1644729088
NM_174936.4(PCSK9):c.1197G>A (p.Met399Ile) rs1359876864
NM_174936.4(PCSK9):c.1204G>T (p.Ala402Ser) rs533612423
NM_174936.4(PCSK9):c.1207G>A (p.Glu403Lys) rs778562344
NM_174936.4(PCSK9):c.1216C>T (p.Leu406Phe)
NM_174936.4(PCSK9):c.1254C>A (p.Phe418Leu) rs1378713223
NM_174936.4(PCSK9):c.1268T>C (p.Val423Ala) rs555751342
NM_174936.4(PCSK9):c.1280C>G (p.Ala427Gly)
NM_174936.4(PCSK9):c.1289C>T (p.Pro430Leu) rs1644730203
NM_174936.4(PCSK9):c.1309A>T (p.Thr437Ser) rs1644730429
NM_174936.4(PCSK9):c.1333C>T (p.Pro445Ser) rs761383351
NM_174936.4(PCSK9):c.1334C>A (p.Pro445His) rs769060209
NM_174936.4(PCSK9):c.1337C>T (p.Pro446Leu)
NM_174936.4(PCSK9):c.1354G>C (p.Gly452Arg) rs1173147037
NM_174936.4(PCSK9):c.1359G>C (p.Trp453Cys)
NM_174936.4(PCSK9):c.1376C>G (p.Thr459Ser) rs1644733348
NM_174936.4(PCSK9):c.1378_1380delinsATG (p.Val460Met) rs1644733403
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.1403C>T (p.Thr468Ile) rs1478694424
NM_174936.4(PCSK9):c.1415C>T (p.Thr472Ile) rs1644734019
NM_174936.4(PCSK9):c.1441G>A (p.Glu481Lys) rs2100326154
NM_174936.4(PCSK9):c.1447C>G (p.Leu483Val) rs1570307690
NM_174936.4(PCSK9):c.144GGA[1] (p.Glu49del)
NM_174936.4(PCSK9):c.1467C>G (p.Phe489Leu) rs2100326325
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln) rs370574590
NM_174936.4(PCSK9):c.1484G>T (p.Arg495Leu) rs370574590
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His) rs143394031
NM_174936.4(PCSK9):c.1496G>C (p.Arg499Pro) rs143394031
NM_174936.4(PCSK9):c.1496G>T (p.Arg499Leu) rs143394031
NM_174936.4(PCSK9):c.1501G>A (p.Glu501Lys) rs1377720240
NM_174936.4(PCSK9):c.1503+6_1503+15dup rs1449545218
NM_174936.4(PCSK9):c.1511G>A (p.Gly504Glu) rs1427178819
NM_174936.4(PCSK9):c.1537A>G (p.Asn513Asp) rs1057516136
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
NM_174936.4(PCSK9):c.1549G>A (p.Gly517Ser)
NM_174936.4(PCSK9):c.1555G>A (p.Gly519Ser) rs2100330525
NM_174936.4(PCSK9):c.155T>C (p.Leu52Pro)
NM_174936.4(PCSK9):c.1574G>A (p.Arg525Lys)
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.1601G>T (p.Cys534Phe) rs920130560
NM_174936.4(PCSK9):c.1629G>T (p.Glu543Asp) rs2100330877
NM_174936.4(PCSK9):c.1638G>A (p.Met546Ile) rs1461201950
NM_174936.4(PCSK9):c.164C>T (p.Ala55Val) rs1644586582
NM_174936.4(PCSK9):c.1675_1677dup (p.Leu559_Thr560insLeu)
NM_174936.4(PCSK9):c.1726C>T (p.Pro576Ser) rs1361987459
NM_174936.4(PCSK9):c.1735C>A (p.Leu579Met) rs751217094
NM_174936.4(PCSK9):c.1739G>A (p.Arg580Lys) rs776682841
NM_174936.4(PCSK9):c.1768G>A (p.Gly590Ser) rs1383528401
NM_174936.4(PCSK9):c.176G>C (p.Gly59Ala)
NM_174936.4(PCSK9):c.1781C>T (p.Ala594Val) rs578162610
NM_174936.4(PCSK9):c.17C>T (p.Ser6Phe) rs1644584130
NM_174936.4(PCSK9):c.1801T>C (p.Cys601Arg) rs1644758668
NM_174936.4(PCSK9):c.1847C>A (p.Pro616Gln) rs755750316
NM_174936.4(PCSK9):c.1847C>T (p.Pro616Leu) rs755750316
NM_174936.4(PCSK9):c.1853C>G (p.Pro618Arg) rs1324548567
NM_174936.4(PCSK9):c.1864-12G>A
NM_174936.4(PCSK9):c.1868C>T (p.Thr623Ile) rs192854667
NM_174936.4(PCSK9):c.188C>T (p.Thr63Ile) rs867904088
NM_174936.4(PCSK9):c.1891A>G (p.Thr631Ala) rs1644777177
NM_174936.4(PCSK9):c.1897A>G (p.Thr633Ala) rs1002152564
NM_174936.4(PCSK9):c.1909G>T (p.Ala637Ser) rs1644777349
NM_174936.4(PCSK9):c.1922C>T (p.Thr641Ile) rs763903895
NM_174936.4(PCSK9):c.1952A>G (p.Asp651Gly) rs1644777850
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
NM_174936.4(PCSK9):c.1966G>A (p.Val656Ile)
NM_174936.4(PCSK9):c.1967T>A (p.Val656Asp)
NM_174936.4(PCSK9):c.196C>T (p.Arg66Cys) rs1437993187
NM_174936.4(PCSK9):c.1978G>A (p.Asp660Asn) rs72646530
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
NM_174936.4(PCSK9):c.197_198delinsAA (p.Arg66Gln) rs1644587150
NM_174936.4(PCSK9):c.1981G>C (p.Val661Leu)
NM_174936.4(PCSK9):c.1989_1990delinsCT (p.Thr664Ser) rs2100344108
NM_174936.4(PCSK9):c.199T>C (p.Cys67Arg) rs376619733
NM_174936.4(PCSK9):c.2024T>C (p.Val675Ala) rs1557509864
NM_174936.4(PCSK9):c.2026G>A (p.Ala676Thr) rs1644778814
NM_174936.4(PCSK9):c.2027C>G (p.Ala676Gly)
NM_174936.4(PCSK9):c.2047C>A (p.His683Asn) rs550247306
NM_174936.4(PCSK9):c.2048dup (p.His683fs)
NM_174936.4(PCSK9):c.2051T>A (p.Leu684Gln) rs1557509907
NM_174936.4(PCSK9):c.2067G>C (p.Gln689His) rs779635493
NM_174936.4(PCSK9):c.2068G>A (p.Glu690Lys) rs1557509919
NM_174936.4(PCSK9):c.207G>A (p.Lys69=) rs1644587403
NM_174936.4(PCSK9):c.208-14T>G rs750836360
NM_174936.4(PCSK9):c.208-6G>A rs2100266306
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.4(PCSK9):c.247A>G (p.Lys83Glu) rs1557499351
NM_174936.4(PCSK9):c.261C>A (p.His87Gln) rs1474074355
NM_174936.4(PCSK9):c.271T>G (p.Ser91Ala)
NM_174936.4(PCSK9):c.281C>T (p.Thr94Ile) rs1644615283
NM_174936.4(PCSK9):c.287G>A (p.Arg96His) rs766999045
NM_174936.4(PCSK9):c.299C>G (p.Ala100Gly) rs1484569818
NM_174936.4(PCSK9):c.311G>A (p.Arg104His) rs72658890
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_174936.4(PCSK9):c.335T>G (p.Leu112Arg) rs1021372164
NM_174936.4(PCSK9):c.375G>C (p.Lys125Asn) rs767164134
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
NM_174936.4(PCSK9):c.399+1G>C rs1461760908
NM_174936.4(PCSK9):c.40C>T (p.Pro14Ser) rs1644584325
NM_174936.4(PCSK9):c.412C>T (p.Pro138Ser) rs780564433
NM_174936.4(PCSK9):c.422A>T (p.Asp141Val) rs1557500688
NM_174936.4(PCSK9):c.424T>G (p.Tyr142Asp) rs1644636004
NM_174936.4(PCSK9):c.430G>A (p.Glu144Lys) rs776150122
NM_174936.4(PCSK9):c.440C>T (p.Ser147Phe) rs2100276054
NM_174936.4(PCSK9):c.45GCT[11] (p.Leu20_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[4] (p.Leu21_Leu23del) rs35574083
NM_174936.4(PCSK9):c.45_46insGTG (p.Leu15_Leu16insVal) rs1350443459
NM_174936.4(PCSK9):c.461T>C (p.Ile154Thr) rs2100276236
NM_174936.4(PCSK9):c.470A>G (p.Asn157Ser)
NM_174936.4(PCSK9):c.481A>G (p.Ile161Val) rs1644636659
NM_174936.4(PCSK9):c.482T>C (p.Ile161Thr) rs748403083
NM_174936.4(PCSK9):c.487C>T (p.Pro163Ser)
NM_174936.4(PCSK9):c.494G>A (p.Arg165Gln) rs372165281
NM_174936.4(PCSK9):c.494G>T (p.Arg165Leu) rs372165281
NM_174936.4(PCSK9):c.503C>G (p.Ala168Gly) rs770592607
NM_174936.4(PCSK9):c.518C>T (p.Pro173Leu)
NM_174936.4(PCSK9):c.521C>T (p.Pro174Leu) rs2100276777
NM_174936.4(PCSK9):c.524-2A>T rs2100296311
NM_174936.4(PCSK9):c.524-2del rs1644679774
NM_174936.4(PCSK9):c.524-9del rs751658486
NM_174936.4(PCSK9):c.547T>C (p.Tyr183His)
NM_174936.4(PCSK9):c.580C>T (p.Arg194Trp) rs200027662
NM_174936.4(PCSK9):c.625C>T (p.Pro209Ser) rs1373540306
NM_174936.4(PCSK9):c.653G>T (p.Arg218Ile) rs1644681544
NM_174936.4(PCSK9):c.655C>G (p.Gln219Glu) rs778617372
NM_174936.4(PCSK9):c.658-2A>C rs371336612
NM_174936.4(PCSK9):c.658-6G>T rs745633457
NM_174936.4(PCSK9):c.658-9_658-7delinsATT rs1644683877
NM_174936.4(PCSK9):c.65T>C (p.Leu22Pro) rs1644584917
NM_174936.4(PCSK9):c.65_66insGCC (p.Leu22_Leu23insPro)
NM_174936.4(PCSK9):c.667T>C (p.Cys223Arg) rs1644684082
NM_174936.4(PCSK9):c.713A>T (p.Asp238Val) rs1557503867
NM_174936.4(PCSK9):c.725C>T (p.Ala242Val)
NM_174936.4(PCSK9):c.760A>T (p.Asn254Tyr) rs1644685146
NM_174936.4(PCSK9):c.782T>C (p.Val261Ala)
NM_174936.4(PCSK9):c.791C>A (p.Thr264Asn) rs201789841
NM_174936.4(PCSK9):c.799+5del rs2100299786
NM_174936.4(PCSK9):c.800-2_800delinsCC
NM_174936.4(PCSK9):c.808T>A (p.Phe270Ile) rs2100311351
NM_174936.4(PCSK9):c.80G>A (p.Gly27Asp)
NM_174936.4(PCSK9):c.80G>C (p.Gly27Ala) rs1187613601
NM_174936.4(PCSK9):c.836C>T (p.Pro279Leu) rs1049662014
NM_174936.4(PCSK9):c.844C>A (p.Pro282Thr) rs758526036
NM_174936.4(PCSK9):c.848T>C (p.Leu283Pro) rs1644711279
NM_174936.4(PCSK9):c.853G>A (p.Val285Met) rs1644711325
NM_174936.4(PCSK9):c.85C>T (p.Arg29Cys) rs866597555
NM_174936.4(PCSK9):c.881G>A (p.Ser294Asn)
NM_174936.4(PCSK9):c.895G>A (p.Ala299Thr) rs1359249683
NM_174936.4(PCSK9):c.896C>A (p.Ala299Asp) rs1644711775
NM_174936.4(PCSK9):c.89C>A (p.Ala30Glu) rs958750957
NM_174936.4(PCSK9):c.906G>C (p.Gln302His) rs1644711892
NM_174936.4(PCSK9):c.907C>T (p.Arg303Cys)
NM_174936.4(PCSK9):c.908G>A (p.Arg303His)
NM_174936.4(PCSK9):c.914C>A (p.Ala305Glu)
NM_174936.4(PCSK9):c.922G>A (p.Gly308Arg)
NM_174936.4(PCSK9):c.928G>A (p.Val310Met) rs1200999906
NM_174936.4(PCSK9):c.941C>T (p.Ala314Val) rs971741435
NM_174936.4(PCSK9):c.946G>A (p.Gly316Ser) rs554488891
NM_174936.4(PCSK9):c.956G>A (p.Arg319Gln) rs1644712458
NM_174936.4(PCSK9):c.959A>G (p.Asp320Gly) rs2100312745
NM_174936.4(PCSK9):c.968G>A (p.Cys323Tyr) rs1307302473
NM_174936.4(PCSK9):c.989C>T (p.Ala330Val) rs868240958
NM_174936.4(PCSK9):c.996+4G>A
NM_174936.4(PCSK9):c.996+6T>G
NM_174936.4(PCSK9):c.997-12T>A rs1644722615
NM_174936.4(PCSK9):c.997-2A>T rs1401563215

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