ClinVar Miner

List of variants in gene PCSK9 studied for Familial hypercholesterolemia

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Gene type:
ClinVar version:
Total variants: 636
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=) rs509504 0.98223
NM_174936.4(PCSK9):c.207+15A>G rs2495482 0.91171
NM_174936.4(PCSK9):c.1380A>G (p.Val460=) rs540796 0.82761
NM_174936.4(PCSK9):c.799+3A>G rs2495477 0.49156
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_174936.4(PCSK9):c.524-11G>A rs11800231 0.08151
NM_174936.4(PCSK9):c.657+9G>A rs11800243 0.03991
NM_174936.4(PCSK9):c.1504-16C>T rs28362269 0.01510
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_174936.4(PCSK9):c.1863+11C>G rs72646526 0.00543
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=) rs28362285 0.00518
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_174936.4(PCSK9):c.1431C>T (p.Cys477=) rs28362268 0.00488
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_174936.4(PCSK9):c.1354+9G>T rs72646516 0.00337
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=) rs146960060 0.00289
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_174936.4(PCSK9):c.1681+17G>A rs200529774 0.00238
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_174936.4(PCSK9):c.225T>C (p.Pro75=) rs146563151 0.00191
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr) rs72646509 0.00122
NM_174936.4(PCSK9):c.525C>T (p.Asp175=) rs148612296 0.00117
NM_174936.4(PCSK9):c.757C>T (p.Leu253Phe) rs72646508 0.00098
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn) rs146471967 0.00086
NM_174936.4(PCSK9):c.1929C>T (p.His643=) rs145770391 0.00084
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln) rs143275858 0.00078
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=) rs140364657 0.00076
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys) rs145886902 0.00067
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=) rs147599496 0.00048
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943 0.00048
NM_174936.4(PCSK9):c.1504-7C>T rs72646520 0.00046
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly) rs141995194 0.00034
NM_174936.4(PCSK9):c.1864-13C>T rs147470944 0.00033
NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=) rs138178437 0.00033
NM_174936.4(PCSK9):c.336G>A (p.Leu112=) rs79805678 0.00033
NM_174936.4(PCSK9):c.399+4A>G rs376653409 0.00029
NM_174936.4(PCSK9):c.1294G>A (p.Asp432Asn) rs72646515 0.00024
NM_174936.4(PCSK9):c.993C>T (p.Pro331=) rs376753957 0.00022
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp) rs137878146 0.00020
NM_174936.4(PCSK9):c.1682-20C>A rs372844138 0.00019
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_174936.4(PCSK9):c.1980C>T (p.Asp660=) rs371914056 0.00018
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_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_174936.4(PCSK9):c.1855C>T (p.Gln619Ter) rs142118418 0.00012
NM_174936.4(PCSK9):c.1646G>A (p.Arg549His) rs111400659 0.00011
NM_174936.4(PCSK9):c.384C>T (p.Gly128=) rs72646503 0.00011
NM_174936.4(PCSK9):c.892A>G (p.Asn298Asp) rs575003139 0.00011
NM_174936.4(PCSK9):c.1011G>A (p.Gly337=) rs746723269 0.00009
NM_174936.4(PCSK9):c.276G>A (p.Glu92=) rs147865087 0.00009
NM_174936.4(PCSK9):c.207+5G>A rs1272703401 0.00008
NM_174936.4(PCSK9):c.267G>A (p.Ser89=) rs373551845 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_174936.4(PCSK9):c.1116C>T (p.Ser372=) rs1379493748 0.00007
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=) rs200091654 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_174936.4(PCSK9):c.609C>T (p.Thr203=) rs200856421 0.00007
NM_174936.4(PCSK9):c.799+8A>G rs748933873 0.00007
NM_174936.4(PCSK9):c.1020T>C (p.Asn340=) rs769782435 0.00006
NM_174936.4(PCSK9):c.1227C>T (p.Ala409=) rs146924245 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.1464T>C (p.Ser488=) rs142229832 0.00006
NM_174936.4(PCSK9):c.166C>T (p.Pro56Ser) rs775521571 0.00006
NM_174936.4(PCSK9):c.1727C>T (p.Pro576Leu) rs72646525 0.00006
NM_174936.4(PCSK9):c.1848G>A (p.Pro616=) rs145264023 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.310C>T (p.Arg104Cys) rs369067856 0.00006
NM_174936.4(PCSK9):c.429C>T (p.Ile143=) rs368511429 0.00006
NM_174936.4(PCSK9):c.471C>A (p.Asn157Lys) rs143117125 0.00006
NM_174936.4(PCSK9):c.658-9G>A rs757194881 0.00006
NM_174936.4(PCSK9):c.786C>T (p.Ser262=) rs763759839 0.00006
NM_174936.4(PCSK9):c.942T>C (p.Ala314=) rs1026609359 0.00006
NM_174936.4(PCSK9):c.945C>T (p.Ala315=) rs1378856006 0.00006
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_174936.4(PCSK9):c.1878C>T (p.Cys626=) rs199815786 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_174936.4(PCSK9):c.1120G>A (p.Asp374Asn) rs137852912 0.00004
NM_174936.4(PCSK9):c.1240A>C (p.Arg414=) rs763406953 0.00004
NM_174936.4(PCSK9):c.126G>T (p.Val42=) rs374142123 0.00004
NM_174936.4(PCSK9):c.1287C>A (p.Phe429Leu) rs111427099 0.00004
NM_174936.4(PCSK9):c.1355-12C>T rs28362267 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_174936.4(PCSK9):c.1605C>T (p.Ser535=) rs751405776 0.00004
NM_174936.4(PCSK9):c.1681+10T>C rs181296942 0.00004
NM_174936.4(PCSK9):c.1791C>T (p.His597=) rs374856617 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.2013C>T (p.Ala671=) rs761714505 0.00004
NM_174936.4(PCSK9):c.2028C>T (p.Ala676=) rs142524469 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.290G>A (p.Arg97His) rs376385276 0.00004
NM_174936.4(PCSK9):c.382G>A (p.Gly128Ser) rs766314770 0.00004
NM_174936.4(PCSK9):c.500G>A (p.Arg167Gln) rs779384470 0.00004
NM_174936.4(PCSK9):c.504G>A (p.Ala168=) rs776208295 0.00004
NM_174936.4(PCSK9):c.581G>A (p.Arg194Gln) rs748155397 0.00004
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 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
NM_174936.4(PCSK9):c.106G>A (p.Gly36Ser) rs757753730 0.00003
NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr) rs375582388 0.00003
NM_174936.4(PCSK9):c.1548G>A (p.Gly516=) rs557227031 0.00003
NM_174936.4(PCSK9):c.1563C>T (p.Tyr521=) rs771682043 0.00003
NM_174936.4(PCSK9):c.168C>G (p.Pro56=) rs763029049 0.00003
NM_174936.4(PCSK9):c.1756A>G (p.Asn586Asp) rs146035580 0.00003
NM_174936.4(PCSK9):c.1863+6G>A rs568853401 0.00003
NM_174936.4(PCSK9):c.1882G>A (p.Glu628Lys) rs764653616 0.00003
NM_174936.4(PCSK9):c.1947C>T (p.Ala649=) rs1316935112 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.228C>T (p.Gly76=) rs376554821 0.00003
NM_174936.4(PCSK9):c.234C>T (p.Tyr78=) rs779758641 0.00003
NM_174936.4(PCSK9):c.266C>T (p.Ser89Leu) rs771978846 0.00003
NM_174936.4(PCSK9):c.278G>A (p.Arg93His) rs763855534 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.350G>A (p.Gly117Asp) rs761417131 0.00003
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn) rs793888521 0.00003
NM_174936.4(PCSK9):c.658-10C>T rs375695759 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
NM_174936.4(PCSK9):c.791C>T (p.Thr264Ile) rs201789841 0.00003
NM_174936.4(PCSK9):c.1035G>A (p.Pro345=) rs767809932 0.00002
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His) rs370507566 0.00002
NM_174936.4(PCSK9):c.10G>A (p.Val4Ile) rs186669805 0.00002
NM_174936.4(PCSK9):c.1119C>T (p.Ser373=) rs139683719 0.00002
NM_174936.4(PCSK9):c.1250A>G (p.His417Arg) rs769163891 0.00002
NM_174936.4(PCSK9):c.1270A>G (p.Ile424Val) rs759250273 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.1518G>A (p.Lys506=) rs903946804 0.00002
NM_174936.4(PCSK9):c.1533C>T (p.Ala511=) rs1033662150 0.00002
NM_174936.4(PCSK9):c.159C>T (p.Ala53=) rs759214329 0.00002
NM_174936.4(PCSK9):c.1621C>T (p.Pro541Ser) rs369996097 0.00002
NM_174936.4(PCSK9):c.1671C>T (p.His557=) rs72646521 0.00002
NM_174936.4(PCSK9):c.1733T>A (p.Val578Glu) rs765583923 0.00002
NM_174936.4(PCSK9):c.1735C>T (p.Leu579=) rs751217094 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.2022C>T (p.Ala674=) rs886046436 0.00002
NM_174936.4(PCSK9):c.22C>T (p.Arg8Trp) rs1426361407 0.00002
NM_174936.4(PCSK9):c.420C>T (p.Val140=) rs749630126 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
NM_174936.4(PCSK9):c.787G>A (p.Gly263Ser) rs200146448 0.00002
NM_174936.4(PCSK9):c.885C>T (p.Arg295=) rs554884005 0.00002
NM_174936.4(PCSK9):c.9C>T (p.Thr3=) rs1465865735 0.00002
NM_174936.4(PCSK9):c.-8T>C rs886039837 0.00001
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys) rs371030381 0.00001
NM_174936.4(PCSK9):c.1029C>T (p.Asp343=) rs1159305130 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_174936.4(PCSK9):c.105C>T (p.Asp35=) rs533474523 0.00001
NM_174936.4(PCSK9):c.1071C>T (p.Arg357=) rs779288795 0.00001
NM_174936.4(PCSK9):c.1143A>G (p.Ser381=) rs910186653 0.00001
NM_174936.4(PCSK9):c.1144C>T (p.Gln382Ter) rs773363923 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.1181-6C>T rs1301884424 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.1293G>A (p.Glu431=) rs777706463 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.1323G>A (p.Val441=) rs1365723695 0.00001
NM_174936.4(PCSK9):c.1355-9T>A rs1266793671 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.1413C>T (p.Ala471=) rs1357691724 0.00001
NM_174936.4(PCSK9):c.1423G>A (p.Ala475Thr) rs773699134 0.00001
NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys) rs761767572 0.00001
NM_174936.4(PCSK9):c.1427G>A (p.Arg476His) rs376388695 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.1504-15G>A rs765073505 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.1560C>T (p.Val520=) rs542863545 0.00001
NM_174936.4(PCSK9):c.1564G>A (p.Ala522Thr) rs777300852 0.00001
NM_174936.4(PCSK9):c.1606G>A (p.Val536Ile) rs776367625 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.165A>T (p.Ala55=) rs1277316217 0.00001
NM_174936.4(PCSK9):c.1672G>A (p.Val558Ile) rs1277680499 0.00001
NM_174936.4(PCSK9):c.1686C>T (p.Cys562=) rs762083133 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.1707G>A (p.Glu569=) rs766827854 0.00001
NM_174936.4(PCSK9):c.1728G>A (p.Pro576=) rs755272637 0.00001
NM_174936.4(PCSK9):c.1744C>T (p.Arg582Ter) rs373323910 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.1827A>G (p.Lys609=) rs765626863 0.00001
NM_174936.4(PCSK9):c.1839T>C (p.His613=) rs767139884 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.186C>T (p.Ala62=) rs1359899317 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.1899T>A (p.Thr633=) rs1202472675 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.198C>T (p.Arg66=) rs760439904 0.00001
NM_174936.4(PCSK9):c.1998C>A (p.Ser666Arg) rs745578045 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.2023G>A (p.Val675Ile) rs760981278 0.00001
NM_174936.4(PCSK9):c.2023del (p.Val675fs) rs772102827 0.00001
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352 0.00001
NM_174936.4(PCSK9):c.2045G>A (p.Arg682Gln) rs758946245 0.00001
NM_174936.4(PCSK9):c.2065C>T (p.Gln689Ter) rs769487037 0.00001
NM_174936.4(PCSK9):c.213G>A (p.Pro71=) rs1243883156 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.341T>C (p.Val114Ala) rs775988212 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.400-7T>C rs866539996 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.42_44del (p.Leu23del) rs1453893690 0.00001
NM_174936.4(PCSK9):c.447C>T (p.Val149=) rs758997842 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.523G>A (p.Asp175Asn) rs150898485 0.00001
NM_174936.4(PCSK9):c.524-12C>T rs769681001 0.00001
NM_174936.4(PCSK9):c.524-7T>C rs1430039188 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.615C>T (p.Phe205=) rs759797943 0.00001
NM_174936.4(PCSK9):c.628G>A (p.Glu210Lys) rs1302868036 0.00001
NM_174936.4(PCSK9):c.636C>T (p.Asp212=) rs757510932 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.645C>T (p.Arg215=) rs754648024 0.00001
NM_174936.4(PCSK9):c.658-13G>A rs757913842 0.00001
NM_174936.4(PCSK9):c.658G>A (p.Ala220Thr) rs768795323 0.00001
NM_174936.4(PCSK9):c.660_667del (p.Ala220_Ser221insTer) rs749813311 0.00001
NM_174936.4(PCSK9):c.66C>T (p.Leu22=) rs926463199 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.755del (p.Val252fs) rs779469742 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.800-3C>T rs749915837 0.00001
NM_174936.4(PCSK9):c.831C>G (p.Val277=) rs138038246 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.894C>T (p.Asn298=) rs1157271008 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.936C>T (p.Val312=) rs752401519 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_000001.11:g.55030366T>C rs11206510
NM_174936.3(PCSK9):c.-308A>G
NM_174936.4(PCSK9):c.-9C>T rs1225046798
NM_174936.4(PCSK9):c.1002C>G (p.Ile334Met) rs1252162207
NM_174936.4(PCSK9):c.1007_1032del (p.Val336fs) rs1644722756
NM_174936.4(PCSK9):c.1017C>T (p.Thr339=) rs1557506219
NM_174936.4(PCSK9):c.1026_1028delinsGGG (p.Asp343Gly) rs2100320056
NM_174936.4(PCSK9):c.1030C>T (p.Gln344Ter) rs72646513
NM_174936.4(PCSK9):c.1031A>G (p.Gln344Arg) rs2100320153
NM_174936.4(PCSK9):c.1041C>A (p.Thr347=) rs2100320214
NM_174936.4(PCSK9):c.1042C>T (p.Leu348=) rs750542221
NM_174936.4(PCSK9):c.1044G>A (p.Leu348=) rs1423534032
NM_174936.4(PCSK9):c.1047del (p.Thr350fs)
NM_174936.4(PCSK9):c.1056G>A (p.Gly352=) rs1304477848
NM_174936.4(PCSK9):c.1082T>A (p.Leu361His)
NM_174936.4(PCSK9):c.1095G>A (p.Gly365=) rs780649814
NM_174936.4(PCSK9):c.1096G>A (p.Glu366Lys) rs1644723918
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
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.1133_1134delinsAA (p.Cys378Ter) rs1553137557
NM_174936.4(PCSK9):c.1134C>G (p.Cys378Trp) rs776752113
NM_174936.4(PCSK9):c.1144_1145del (p.Gln382fs) rs751063800
NM_174936.4(PCSK9):c.1147A>C (p.Ser383Arg) rs1644724470
NM_174936.4(PCSK9):c.1149del (p.Ser383fs) rs1557506363
NM_174936.4(PCSK9):c.115G>A (p.Glu39Lys) rs781590513
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1181-12C>A rs1644728950
NM_174936.4(PCSK9):c.1181-9delinsTT rs1644728981
NM_174936.4(PCSK9):c.1182C>A (p.Gly394=) rs1644729067
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.1212G>C (p.Pro404=) rs777470856
NM_174936.4(PCSK9):c.1216C>T (p.Leu406Phe)
NM_174936.4(PCSK9):c.1236G>A (p.Arg412=) rs1644729563
NM_174936.4(PCSK9):c.123G>C (p.Leu41=) rs1644585765
NM_174936.4(PCSK9):c.1254C>A (p.Phe418Leu) rs1378713223
NM_174936.4(PCSK9):c.1254C>T (p.Phe418=) rs1378713223
NM_174936.4(PCSK9):c.1260del (p.Asp422fs) rs1311197628
NM_174936.4(PCSK9):c.1266T>C (p.Asp422=) rs1215843842
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.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.132C>T (p.Ala44=) rs1178309760
NM_174936.4(PCSK9):c.1332G>A (p.Leu444=) rs886046433
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.1335C>T (p.Pro445=) rs1200168752
NM_174936.4(PCSK9):c.1337C>T (p.Pro446Leu)
NM_174936.4(PCSK9):c.1354G>C (p.Gly452Arg) rs1173147037
NM_174936.4(PCSK9):c.1355-4G>T rs1644733187
NM_174936.4(PCSK9):c.1356T>G (p.Gly452=) rs886038746
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.1378_1380delinsTG (p.Val460fs) rs1644733412
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1380_1382delinsGTA (p.Trp461Ter) rs1644733538
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.1395G>C (p.Ser465=)
NM_174936.4(PCSK9):c.1401T>A (p.Pro467=) rs1380003284
NM_174936.4(PCSK9):c.1403C>T (p.Thr468Ile) rs1478694424
NM_174936.4(PCSK9):c.1404A>G (p.Thr468=) rs1378159870
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1407G>T (p.Arg469=) rs747317254
NM_174936.4(PCSK9):c.1413C>A (p.Ala471=) rs1357691724
NM_174936.4(PCSK9):c.1415C>T (p.Thr472Ile) rs1644734019
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.1420_1422delinsATT (p.Val474Ile) rs1644734137
NM_174936.4(PCSK9):c.142G>T (p.Glu48Ter) rs1278890129
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.1449G>T (p.Leu483=)
NM_174936.4(PCSK9):c.144GGA[1] (p.Glu49del)
NM_174936.4(PCSK9):c.1467C>G (p.Phe489Leu) rs2100326325
NM_174936.4(PCSK9):c.1479G>C (p.Gly493=) rs1557507221
NM_174936.4(PCSK9):c.1482G>A (p.Lys494=) rs1644734716
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+20GT[17] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[19] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[20] rs35115360
NM_174936.4(PCSK9):c.1503+6_1503+15dup rs1449545218
NM_174936.4(PCSK9):c.1504-5C>G rs763241481
NM_174936.4(PCSK9):c.1504-5C>T rs763241481
NM_174936.4(PCSK9):c.1504-5_1504-4del rs755817854
NM_174936.4(PCSK9):c.1511G>A (p.Gly504Glu) rs1427178819
NM_174936.4(PCSK9):c.1514dup (p.Lys506fs) rs1644742420
NM_174936.4(PCSK9):c.1515C>A (p.Gly505=) rs1042826452
NM_174936.4(PCSK9):c.1537A>G (p.Asn513Asp) rs1057516136
NM_174936.4(PCSK9):c.1538del (p.Asn513fs) rs2100330364
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.156G>A (p.Leu52=) rs1231649101
NM_174936.4(PCSK9):c.156_158delinsAGT (p.Ala53Val) rs1644586405
NM_174936.4(PCSK9):c.1574G>A (p.Arg525Lys)
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.1591C>T (p.Gln531Ter) rs1644743243
NM_174936.4(PCSK9):c.1601G>T (p.Cys534Phe) rs920130560
NM_174936.4(PCSK9):c.1623A>G (p.Pro541=) rs1644743439
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.1658A>G (p.His553Arg)
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.4(PCSK9):c.1668C>A (p.Gly556=) rs1570308726
NM_174936.4(PCSK9):c.1675_1677dup (p.Leu559_Thr560insLeu)
NM_174936.4(PCSK9):c.1682-3dup rs749072203
NM_174936.4(PCSK9):c.1682-6C>T
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.1746A>G (p.Arg582=) rs1644757971
NM_174936.4(PCSK9):c.1768G>A (p.Gly590Ser) rs1383528401
NM_174936.4(PCSK9):c.176G>C (p.Gly59Ala)
NM_174936.4(PCSK9):c.1779G>A (p.Glu593=) rs1453831826
NM_174936.4(PCSK9):c.1781C>T (p.Ala594Val) rs578162610
NM_174936.4(PCSK9):c.178A>G (p.Thr60Ala)
NM_174936.4(PCSK9):c.1797C>T (p.Ser599=) rs1349990848
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.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.1864-12G>A
NM_174936.4(PCSK9):c.1864-5G>T rs1644776869
NM_174936.4(PCSK9):c.1868C>T (p.Thr623Ile) rs192854667
NM_174936.4(PCSK9):c.1887C>T (p.Gly629=)
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.1901_1904dup (p.Cys635fs) rs1644777247
NM_174936.4(PCSK9):c.1909G>T (p.Ala637Ser) rs1644777349
NM_174936.4(PCSK9):c.1914C>T (p.Leu638=) rs948729146
NM_174936.4(PCSK9):c.1922C>T (p.Thr641Ile) rs763903895
NM_174936.4(PCSK9):c.192C>T (p.Phe64=)
NM_174936.4(PCSK9):c.1945_1954del (p.Ala649fs) rs1644777752
NM_174936.4(PCSK9):c.1952A>G (p.Asp651Gly) rs1644777850
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
NM_174936.4(PCSK9):c.1959G>A (p.Thr653=) rs139894975
NM_174936.4(PCSK9):c.1959G>C (p.Thr653=) rs139894975
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.1987A>G (p.Thr663Ala) rs1325251210
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.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.2013C>G (p.Ala671=) rs761714505
NM_174936.4(PCSK9):c.201C>T (p.Cys67=) rs1644587227
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.2055G>A (p.Ala685=) rs1490853919
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.207+6G>A rs1306315743
NM_174936.4(PCSK9):c.207G>A (p.Lys69=) rs1644587403
NM_174936.4(PCSK9):c.208-10A>G rs761104090
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.252G>A (p.Glu84=) rs768895535
NM_174936.4(PCSK9):c.261C>A (p.His87Gln) rs1474074355
NM_174936.4(PCSK9):c.261C>T (p.His87=) rs1474074355
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp) rs771978846
NM_174936.4(PCSK9):c.268C>T (p.Gln90Ter) rs2100266778
NM_174936.4(PCSK9):c.271T>G (p.Ser91Ala)
NM_174936.4(PCSK9):c.27C>G (p.Ser9=) rs562480265
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.327C>G (p.Thr109=) rs759986372
NM_174936.4(PCSK9):c.335T>G (p.Leu112Arg) rs1021372164
NM_174936.4(PCSK9):c.36G>A (p.Pro12=) rs1202453511
NM_174936.4(PCSK9):c.375G>C (p.Lys125Asn) rs767164134
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
NM_174936.4(PCSK9):c.393G>A (p.Leu131=)
NM_174936.4(PCSK9):c.399+1G>C rs1461760908
NM_174936.4(PCSK9):c.400-15C>T rs1644635525
NM_174936.4(PCSK9):c.400-5T>C rs1284307557
NM_174936.4(PCSK9):c.405G>A (p.Leu135=) rs2100275802
NM_174936.4(PCSK9):c.40C>T (p.Pro14Ser) rs1644584325
NM_174936.4(PCSK9):c.411G>A (p.Leu137=)
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.42A>G (p.Pro14=)
NM_174936.4(PCSK9):c.42_50del (p.Leu21_Leu23del) rs1644584450
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.449_450del (p.Phe150fs) rs793888520
NM_174936.4(PCSK9):c.456G>A (p.Gln152=) rs1305635836
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) rs35574083
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.45GCT[5] (p.Leu22_Leu23del) rs35574083
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) 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.465G>A (p.Pro155=) rs762792417
NM_174936.4(PCSK9):c.467_468delinsAA (p.Trp156Ter) rs1644636495
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.501G>A (p.Arg167=) rs748481228
NM_174936.4(PCSK9):c.503C>G (p.Ala168Gly) rs770592607
NM_174936.4(PCSK9):c.513C>A (p.Tyr171Ter) rs1644637183
NM_174936.4(PCSK9):c.518C>T (p.Pro173Leu)
NM_174936.4(PCSK9):c.521C>T (p.Pro174Leu) rs2100276777
NM_174936.4(PCSK9):c.522C>T (p.Pro174=) rs373018373
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.552C>T (p.Leu184=) rs1644680335
NM_174936.4(PCSK9):c.554_558del (p.Leu185fs) rs1644680378
NM_174936.4(PCSK9):c.566_567dup (p.Gln190fs) rs755197912
NM_174936.4(PCSK9):c.568C>T (p.Gln190Ter) rs1557503455
NM_174936.4(PCSK9):c.580C>A (p.Arg194=) rs200027662
NM_174936.4(PCSK9):c.580C>T (p.Arg194Trp) rs200027662
NM_174936.4(PCSK9):c.588C>T (p.Ile196=) rs762910129
NM_174936.4(PCSK9):c.602T>C (p.Met201Thr) rs1254535640
NM_174936.4(PCSK9):c.606C>T (p.Val202=) rs760346826
NM_174936.4(PCSK9):c.61_69dup (p.Leu23_Gly24insLeuLeuLeu)
NM_174936.4(PCSK9):c.625C>T (p.Pro209Ser) rs1373540306
NM_174936.4(PCSK9):c.634_644del (p.Asp212fs) rs1644681304
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.4(PCSK9):c.651_652del (p.His217fs) rs1644681507
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.658-10C>G rs375695759
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.67_92del (p.Leu23fs)
NM_174936.4(PCSK9):c.693A>G (p.Ala231=) rs1644684348
NM_174936.4(PCSK9):c.6C>T (p.Gly2=) rs1644584021
NM_174936.4(PCSK9):c.713A>T (p.Asp238Val) rs1557503867
NM_174936.4(PCSK9):c.714T>C (p.Asp238=) rs1300943486
NM_174936.4(PCSK9):c.725C>T (p.Ala242Val)
NM_174936.4(PCSK9):c.760A>T (p.Asn254Tyr) rs1644685146
NM_174936.4(PCSK9):c.762C>T (p.Asn254=) rs915006256
NM_174936.4(PCSK9):c.772A>T (p.Lys258Ter) rs771479424
NM_174936.4(PCSK9):c.780G>A (p.Thr260=) rs1397743766
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.800-12T>C rs1644710625
NM_174936.4(PCSK9):c.800-2_800delinsCC
NM_174936.4(PCSK9):c.800-5C>T rs1644710672
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.81C>T (p.Gly27=) rs1288602841
NM_174936.4(PCSK9):c.820del (p.Ser274fs)
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.84C>T (p.Ala28=) rs1570290647
NM_174936.4(PCSK9):c.853G>A (p.Val285Met) rs1644711325
NM_174936.4(PCSK9):c.855G>A (p.Val285=) rs2100311818
NM_174936.4(PCSK9):c.85C>T (p.Arg29Cys) rs866597555
NM_174936.4(PCSK9):c.864C>T (p.Pro288=)
NM_174936.4(PCSK9):c.870G>A (p.Ala290=) rs868122267
NM_174936.4(PCSK9):c.876G>T (p.Gly292=) rs1012650815
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.897C>T (p.Ala299=) rs1644711792
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.90G>A (p.Ala30=) rs1644585418
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.939C>T (p.Thr313=) rs534113572
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.94G>A (p.Glu32Lys)
NM_174936.4(PCSK9):c.954C>T (p.Phe318=)
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.95AGGACG[3] (p.32ED[3]) rs746705490
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.993C>G (p.Pro331=) rs376753957
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.997-12T>C rs1644722615
NM_174936.4(PCSK9):c.997-13_997-11del rs1644722564
NM_174936.4(PCSK9):c.997-14C>T rs2100319765
NM_174936.4(PCSK9):c.997-2A>T rs1401563215
NM_174936.4(PCSK9):c.999C>A (p.Val333=)

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