ClinVar Miner

List of variants reported as likely benign for Familial hypercholesterolemia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1087
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02288
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NC_000019.10:g.11089332C>T rs17249141 0.00338
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=) rs41291054 0.00191
NM_000384.3(APOB):c.751G>A (p.Ala251Thr) rs61741625 0.00190
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr) rs72646509 0.00122
NM_000527.5(LDLR):c.*19G>A rs56270417 0.00117
NM_000527.5(LDLR):c.858C>T (p.Ser286=) rs140241383 0.00116
NM_174936.4(PCSK9):c.757C>T (p.Leu253Phe) rs72646508 0.00098
NM_000527.5(LDLR):c.828C>T (p.Cys276=) rs146651743 0.00096
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.169G>A (p.Glu57Lys) rs145886902 0.00067
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_000384.3(APOB):c.13680T>C (p.Thr4560=) rs72654427 0.00064
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=) rs369497122 0.00054
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_174936.4(PCSK9):c.1504-7C>T rs72646520 0.00046
NM_000527.5(LDLR):c.2055G>A (p.Pro685=) rs149126953 0.00040
NM_000527.5(LDLR):c.694+9G>A rs34093283 0.00040
NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=) rs138178437 0.00033
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.940+16G>A rs72658859 0.00028
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_000527.5(LDLR):c.1705+18C>A rs186896947 0.00022
NM_174936.4(PCSK9):c.993C>T (p.Pro331=) rs376753957 0.00022
NM_000527.5(LDLR):c.1530G>A (p.Thr510=) rs367655096 0.00019
NM_174936.4(PCSK9):c.1682-20C>A rs372844138 0.00019
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_000527.5(LDLR):c.345C>G (p.Arg115=) rs150144164 0.00018
NM_174936.4(PCSK9):c.1980C>T (p.Asp660=) rs371914056 0.00018
NM_000384.3(APOB):c.83-11C>T rs372452800 0.00017
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_000527.5(LDLR):c.1491T>C (p.Thr497=) rs145252288 0.00015
NM_000527.5(LDLR):c.165C>G (p.Gly55=) rs150644181 0.00015
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_174936.4(PCSK9):c.1855C>T (p.Gln619Ter) rs142118418 0.00012
NM_000527.5(LDLR):c.1706-16C>T rs377194146 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.2389+8C>T rs747170426 0.00011
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_000527.5(LDLR):c.68-18C>G rs370599334 0.00010
NM_000527.5(LDLR):c.1586+15C>T rs371716068 0.00009
NM_000527.5(LDLR):c.67+1075G>A rs764612255 0.00009
NM_015627.3(LDLRAP1):c.141G>A (p.Leu47=) rs543454612 0.00009
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_000527.5(LDLR):c.1580T>C (p.Val527Ala) rs730882107 0.00008
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540 0.00008
NM_174936.4(PCSK9):c.267G>A (p.Ser89=) rs373551845 0.00008
NM_000527.5(LDLR):c.1710C>T (p.Leu570=) rs141095938 0.00007
NM_000527.5(LDLR):c.1988-17C>T rs373531246 0.00007
NM_000527.5(LDLR):c.267C>T (p.Cys89=) rs777640882 0.00007
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.609C>T (p.Thr203=) rs200856421 0.00007
NM_174936.4(PCSK9):c.799+8A>G rs748933873 0.00007
NM_000527.5(LDLR):c.108C>T (p.Asp36=) rs373144619 0.00006
NM_000527.5(LDLR):c.1359-31G>A rs369781605 0.00006
NM_000527.5(LDLR):c.1359-3C>T rs775657243 0.00006
NM_000527.5(LDLR):c.1428C>T (p.Pro476=) rs543392107 0.00006
NM_000527.5(LDLR):c.147C>T (p.Ser49=) rs138078086 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn) rs138190838 0.00006
NM_000527.5(LDLR):c.2389+13C>T rs372802068 0.00006
NM_000527.5(LDLR):c.2397C>T (p.Leu799=) rs367882846 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.681C>T (p.Asp227=) rs121908028 0.00006
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=) rs138908999 0.00006
NM_015627.3(LDLRAP1):c.573C>T (p.Asp191=) rs375358854 0.00006
NM_015627.3(LDLRAP1):c.861C>T (p.Leu287=) rs767867837 0.00006
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.1464T>C (p.Ser488=) rs142229832 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.310C>T (p.Arg104Cys) rs369067856 0.00006
NM_174936.4(PCSK9):c.429C>T (p.Ile143=) rs368511429 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_000527.5(LDLR):c.1671T>C (p.Thr557=) rs750643961 0.00005
NM_000527.5(LDLR):c.1988-19T>C rs369606726 0.00005
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp) rs756864388 0.00005
NM_000527.5(LDLR):c.2427A>G (p.Leu809=) rs147191787 0.00005
NM_000527.5(LDLR):c.2574C>T (p.Asp858=) rs139757711 0.00005
NM_000527.5(LDLR):c.2577G>A (p.Val859=) rs201685587 0.00005
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_000527.5(LDLR):c.351C>T (p.His117=) rs200258458 0.00005
NM_000527.5(LDLR):c.660C>T (p.Pro220=) rs143002616 0.00005
NM_000527.5(LDLR):c.861C>T (p.Gly287=) rs770191650 0.00005
NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=) rs1057515462 0.00005
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_000384.3(APOB):c.8720G>A (p.Arg2907His) rs751437976 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878 0.00004
NM_000527.5(LDLR):c.1358+7G>A rs369709333 0.00004
NM_000527.5(LDLR):c.1380C>T (p.His460=) rs768883894 0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.1586+13G>A rs1165530512 0.00004
NM_000527.5(LDLR):c.1713C>T (p.Leu571=) rs1015887338 0.00004
NM_000527.5(LDLR):c.190T>C (p.Leu64=) rs761629258 0.00004
NM_000527.5(LDLR):c.1944C>T (p.Ser648=) rs774330316 0.00004
NM_000527.5(LDLR):c.1987+10G>T rs375846192 0.00004
NM_000527.5(LDLR):c.1988-13T>G rs200201131 0.00004
NM_000527.5(LDLR):c.1988-16G>A rs183599308 0.00004
NM_000527.5(LDLR):c.2140+86C>T rs587776886 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.291C>T (p.Asn97=) rs372845091 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.1355-12C>T rs28362267 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.2013C>T (p.Ala671=) rs761714505 0.00004
NM_174936.4(PCSK9):c.2028C>T (p.Ala676=) rs142524469 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.627C>T (p.Pro209=) rs375892354 0.00004
NM_000384.3(APOB):c.237+4T>C rs1170796077 0.00003
NM_000527.5(LDLR):c.1002C>T (p.Ile334=) rs762853526 0.00003
NM_000527.5(LDLR):c.1038G>A (p.Leu346=) rs769228441 0.00003
NM_000527.5(LDLR):c.1060+24C>A rs370478935 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.1186+9G>A rs768475018 0.00003
NM_000527.5(LDLR):c.1197C>T (p.Ala399=) rs752497000 0.00003
NM_000527.5(LDLR):c.1221C>T (p.His407=) rs778424518 0.00003
NM_000527.5(LDLR):c.1431C>T (p.Asp477=) rs368610522 0.00003
NM_000527.5(LDLR):c.1692T>C (p.Asn564=) rs528405760 0.00003
NM_000527.5(LDLR):c.1705+9G>A rs370098796 0.00003
NM_000527.5(LDLR):c.186G>A (p.Thr62=) rs55958434 0.00003
NM_000527.5(LDLR):c.1988-7G>A rs529021326 0.00003
NM_000527.5(LDLR):c.2241C>T (p.Pro747=) rs554523758 0.00003
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala) rs780300776 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000527.5(LDLR):c.2398G>A (p.Val800Ile) rs200243555 0.00003
NM_000527.5(LDLR):c.285C>T (p.Cys95=) rs139400379 0.00003
NM_000527.5(LDLR):c.300C>T (p.Asp100=) rs766709484 0.00003
NM_000527.5(LDLR):c.417C>T (p.Asp139=) rs537484504 0.00003
NM_000527.5(LDLR):c.450C>T (p.Pro150=) rs773365925 0.00003
NM_000527.5(LDLR):c.501C>T (p.Cys167=) rs752596535 0.00003
NM_000527.5(LDLR):c.717C>T (p.Asp239=) rs1286110371 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_015627.3(LDLRAP1):c.621C>T (p.Val207=) rs554028072 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.1863+6G>A rs568853401 0.00003
NM_174936.4(PCSK9):c.1947C>T (p.Ala649=) rs1316935112 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.278G>A (p.Arg93His) rs763855534 0.00003
NM_174936.4(PCSK9):c.350G>A (p.Gly117Asp) rs761417131 0.00003
NM_174936.4(PCSK9):c.658-10C>T rs375695759 0.00003
NM_174936.4(PCSK9):c.791C>T (p.Thr264Ile) rs201789841 0.00003
NM_000527.5(LDLR):c.-13A>G rs376011618 0.00002
NM_000527.5(LDLR):c.1065C>T (p.Ile355=) rs960032925 0.00002
NM_000527.5(LDLR):c.1104C>T (p.Cys368=) rs113669610 0.00002
NM_000527.5(LDLR):c.1209C>T (p.Phe403=) rs777903106 0.00002
NM_000527.5(LDLR):c.1401C>T (p.Thr467=) rs780942671 0.00002
NM_000527.5(LDLR):c.1473C>T (p.Thr491=) rs558238642 0.00002
NM_000527.5(LDLR):c.1705+8C>T rs754924276 0.00002
NM_000527.5(LDLR):c.1706-21_1706-19del rs386134242 0.00002
NM_000527.5(LDLR):c.1767T>C (p.Asp589=) rs781481963 0.00002
NM_000527.5(LDLR):c.190+8C>A rs1200524551 0.00002
NM_000527.5(LDLR):c.190+9C>T rs779846835 0.00002
NM_000527.5(LDLR):c.1988-4C>T rs781188770 0.00002
NM_000527.5(LDLR):c.2064C>T (p.Asn688=) rs142279332 0.00002
NM_000527.5(LDLR):c.2100C>T (p.Asp700=) rs759858813 0.00002
NM_000527.5(LDLR):c.210C>T (p.Ser70=) rs1297676592 0.00002
NM_000527.5(LDLR):c.2277C>T (p.Leu759=) rs796145467 0.00002
NM_000527.5(LDLR):c.2307C>G (p.His769Gln) rs760479588 0.00002
NM_000527.5(LDLR):c.2355T>C (p.Ser785=) rs756895842 0.00002
NM_000527.5(LDLR):c.2481C>T (p.Val827=) rs767524995 0.00002
NM_000527.5(LDLR):c.2548-15A>G rs747745533 0.00002
NM_000527.5(LDLR):c.314-20C>T rs752849770 0.00002
NM_000527.5(LDLR):c.324G>C (p.Thr108=) rs146517429 0.00002
NM_000527.5(LDLR):c.408C>T (p.Asp136=) rs759738744 0.00002
NM_000527.5(LDLR):c.651T>C (p.Asp217=) rs201374693 0.00002
NM_000527.5(LDLR):c.678T>C (p.Ser226=) rs778388064 0.00002
NM_000527.5(LDLR):c.720A>G (p.Glu240=) rs776223298 0.00002
NM_000527.5(LDLR):c.72C>T (p.Gly24=) rs774304077 0.00002
NM_000527.5(LDLR):c.940+10G>A rs375070227 0.00002
NM_000527.5(LDLR):c.96C>T (p.Phe32=) rs549017482 0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_015627.3(LDLRAP1):c.645A>G (p.Leu215=) rs776681796 0.00002
NM_174936.4(PCSK9):c.1035G>A (p.Pro345=) rs767809932 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.1270A>G (p.Ile424Val) rs759250273 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.1671C>T (p.His557=) rs72646521 0.00002
NM_174936.4(PCSK9):c.1735C>T (p.Leu579=) rs751217094 0.00002
NM_174936.4(PCSK9):c.2022C>T (p.Ala674=) rs886046436 0.00002
NM_174936.4(PCSK9):c.420C>T (p.Val140=) rs749630126 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
NC_000019.10:g.11089344G>T rs1310257411 0.00001
NC_000019.10:g.11089452G>C rs944580031 0.00001
NM_000384.3(APOB):c.107G>C (p.Ser36Thr) rs200464882 0.00001
NM_000384.3(APOB):c.141G>A (p.Lys47=) rs966624272 0.00001
NM_000384.3(APOB):c.168T>C (p.Tyr56=) rs761116238 0.00001
NM_000384.3(APOB):c.403A>G (p.Ile135Val) rs769296548 0.00001
NM_000527.5(LDLR):c.1008C>T (p.Tyr336=) rs767024374 0.00001
NM_000527.5(LDLR):c.1023C>T (p.Pro341=) rs376267007 0.00001
NM_000527.5(LDLR):c.1036C>T (p.Leu346=) rs1135402770 0.00001
NM_000527.5(LDLR):c.1047G>A (p.Gln349=) rs986687163 0.00001
NM_000527.5(LDLR):c.1060+18C>A rs780579614 0.00001
NM_000527.5(LDLR):c.1061-9C>G rs765020792 0.00001
NM_000527.5(LDLR):c.1164C>T (p.His388=) rs1215990807 0.00001
NM_000527.5(LDLR):c.1186+10G>C rs781336025 0.00001
NM_000527.5(LDLR):c.1186+8C>T rs746742171 0.00001
NM_000527.5(LDLR):c.1187-11C>T rs897774579 0.00001
NM_000527.5(LDLR):c.1187-17G>A rs1222506134 0.00001
NM_000527.5(LDLR):c.1188C>T (p.Gly396=) rs751734809 0.00001
NM_000527.5(LDLR):c.1239G>A (p.Thr413=) rs777011006 0.00001
NM_000527.5(LDLR):c.1254G>A (p.Glu418=) rs766382506 0.00001
NM_000527.5(LDLR):c.1284C>T (p.Asn428=) rs368708058 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1302G>A (p.Thr434=) rs534782075 0.00001
NM_000527.5(LDLR):c.1356C>T (p.Cys452=) rs137853961 0.00001
NM_000527.5(LDLR):c.1358+9C>T rs761688874 0.00001
NM_000527.5(LDLR):c.1359-10C>T rs779530380 0.00001
NM_000527.5(LDLR):c.1359-13C>T rs886038307 0.00001
NM_000527.5(LDLR):c.1359-29G>A rs879254877 0.00001
NM_000527.5(LDLR):c.138C>T (p.Cys46=) rs754676104 0.00001
NM_000527.5(LDLR):c.1416C>T (p.Asp472=) rs1289425017 0.00001
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu) rs201967266 0.00001
NM_000527.5(LDLR):c.1494C>T (p.Val498=) rs921522373 0.00001
NM_000527.5(LDLR):c.1509C>A (p.Thr503=) rs750781633 0.00001
NM_000527.5(LDLR):c.1515C>T (p.Gly505=) rs780757228 0.00001
NM_000527.5(LDLR):c.1566C>T (p.Ile522=) rs759322565 0.00001
NM_000527.5(LDLR):c.1587-10C>T rs375418317 0.00001
NM_000527.5(LDLR):c.1587-11C>T rs201957233 0.00001
NM_000527.5(LDLR):c.1587-4C>T rs1478655710 0.00001
NM_000527.5(LDLR):c.1632A>G (p.Lys544=) rs1291759570 0.00001
NM_000527.5(LDLR):c.1635G>A (p.Gly545=) rs767602284 0.00001
NM_000527.5(LDLR):c.1653C>T (p.Asp551=) rs753878216 0.00001
NM_000527.5(LDLR):c.1662G>A (p.Ser554=) rs151047249 0.00001
NM_000527.5(LDLR):c.1665G>T (p.Leu555=) rs779057688 0.00001
NM_000527.5(LDLR):c.1702C>T (p.Leu568=) rs746959386 0.00001
NM_000527.5(LDLR):c.1776G>T (p.Gly592=) rs1204342348 0.00001
NM_000527.5(LDLR):c.1791C>T (p.Thr597=) rs947350236 0.00001
NM_000527.5(LDLR):c.1845+11C>T rs370245937 0.00001
NM_000527.5(LDLR):c.1846-15T>C rs772268064 0.00001
NM_000527.5(LDLR):c.1854A>G (p.Val618=) rs1248760084 0.00001
NM_000527.5(LDLR):c.1863A>T (p.Thr621=) rs768509914 0.00001
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349 0.00001
NM_000527.5(LDLR):c.1929T>C (p.Ala643=) rs2077525125 0.00001
NM_000527.5(LDLR):c.1974C>T (p.Leu658=) rs546153613 0.00001
NM_000527.5(LDLR):c.2022T>C (p.Asn674=) rs1320831782 0.00001
NM_000527.5(LDLR):c.2025C>T (p.Gly675=) rs778781895 0.00001
NM_000527.5(LDLR):c.2037T>C (p.Tyr679=) rs760436036 0.00001
NM_000527.5(LDLR):c.2038C>T (p.Leu680=) rs768466575 0.00001
NM_000527.5(LDLR):c.2088C>T (p.Cys696=) rs112954220 0.00001
NM_000527.5(LDLR):c.2097G>A (p.Pro699=) rs370835628 0.00001
NM_000527.5(LDLR):c.2140+11C>T rs780701050 0.00001
NM_000527.5(LDLR):c.2140+12G>A rs1409963984 0.00001
NM_000527.5(LDLR):c.2190G>A (p.Lys730=) rs1430407684 0.00001
NM_000527.5(LDLR):c.2250C>A (p.Ser750=) rs1280804630 0.00001
NM_000527.5(LDLR):c.225T>C (p.Cys75=) rs758927662 0.00001
NM_000527.5(LDLR):c.2265C>T (p.Ala755=) rs762453962 0.00001
NM_000527.5(LDLR):c.2311+9T>G rs559252149 0.00001
NM_000527.5(LDLR):c.2319C>T (p.Gly773=) rs377563758 0.00001
NM_000527.5(LDLR):c.2322C>T (p.Asp774=) rs746132154 0.00001
NM_000527.5(LDLR):c.2328T>C (p.Ala776=) rs746838498 0.00001
NM_000527.5(LDLR):c.2373C>T (p.Ser791=) rs751216643 0.00001
NM_000527.5(LDLR):c.2382C>G (p.Leu794=) rs1271856256 0.00001
NM_000527.5(LDLR):c.2389+10G>A rs780920371 0.00001
NM_000527.5(LDLR):c.2390-3C>T rs755033580 0.00001
NM_000527.5(LDLR):c.2391G>C (p.Val797=) rs752846235 0.00001
NM_000527.5(LDLR):c.2415G>A (p.Gly805=) rs1232565045 0.00001
NM_000527.5(LDLR):c.2418C>A (p.Val806=) rs771705902 0.00001
NM_000527.5(LDLR):c.2469T>C (p.Phe823=) rs1026436742 0.00001
NM_000527.5(LDLR):c.2472C>T (p.Asp824=) rs1309851194 0.00001
NM_000527.5(LDLR):c.2478C>T (p.Pro826=) rs774831273 0.00001
NM_000527.5(LDLR):c.2529C>T (p.Asp843=) rs374635484 0.00001
NM_000527.5(LDLR):c.2535C>T (p.Tyr845=) rs139796500 0.00001
NM_000527.5(LDLR):c.2548-12A>G rs771336748 0.00001
NM_000527.5(LDLR):c.366C>T (p.Ile122=) rs145236808 0.00001
NM_000527.5(LDLR):c.369T>G (p.Ser123=) rs753900469 0.00001
NM_000527.5(LDLR):c.378C>T (p.Phe126=) rs762139262 0.00001
NM_000527.5(LDLR):c.432G>A (p.Pro144=) rs769228052 0.00001
NM_000527.5(LDLR):c.438C>A (p.Leu146=) rs762024743 0.00001
NM_000527.5(LDLR):c.447T>C (p.Gly149=) rs765386678 0.00001
NM_000527.5(LDLR):c.45C>T (p.Leu15=) rs778389514 0.00001
NM_000527.5(LDLR):c.480C>T (p.Cys160=) rs751314540 0.00001
NM_000527.5(LDLR):c.48C>A (p.Leu16=) rs565675103 0.00001
NM_000527.5(LDLR):c.513C>T (p.Pro171=) rs747327435 0.00001
NM_000527.5(LDLR):c.531G>A (p.Ser177=) rs555158224 0.00001
NM_000527.5(LDLR):c.543G>A (p.Pro181=) rs766577671 0.00001
NM_000527.5(LDLR):c.585C>T (p.Ser195=) rs756880555 0.00001
NM_000527.5(LDLR):c.588C>A (p.Pro196=) rs574219590 0.00001
NM_000527.5(LDLR):c.60G>A (p.Gly20=) rs1276464477 0.00001
NM_000527.5(LDLR):c.68-9C>G rs1284807471 0.00001
NM_000527.5(LDLR):c.694+8C>T rs370855899 0.00001
NM_000527.5(LDLR):c.711C>T (p.Arg237=) rs780294768 0.00001
NM_000527.5(LDLR):c.795C>T (p.Ser265=) rs146181232 0.00001
NM_000527.5(LDLR):c.807C>T (p.Gly269=) rs1421542394 0.00001
NM_000527.5(LDLR):c.810C>T (p.Cys270=) rs773328511 0.00001
NM_000527.5(LDLR):c.811G>A (p.Val271Ile) rs749220643 0.00001
NM_000527.5(LDLR):c.817+7G>A rs572275000 0.00001
NM_000527.5(LDLR):c.818-15C>G rs79433354 0.00001
NM_000527.5(LDLR):c.843G>A (p.Lys281=) rs778510630 0.00001
NM_000527.5(LDLR):c.874C>T (p.Leu292=) rs752072833 0.00001
NM_000527.5(LDLR):c.891C>T (p.Asn297=) rs1266870060 0.00001
NM_000527.5(LDLR):c.941-15C>T rs777052696 0.00001
NM_000527.5(LDLR):c.941-5C>T rs750183389 0.00001
NM_000527.5(LDLR):c.941-7T>C rs764945757 0.00001
NM_000527.5(LDLR):c.948C>T (p.Asn316=) rs780673258 0.00001
NM_000527.5(LDLR):c.966C>T (p.Asn322=) rs567080879 0.00001
NM_000527.5(LDLR):c.969C>T (p.Gly323=) rs199622547 0.00001
NM_000527.5(LDLR):c.981C>T (p.His327=) rs1060499933 0.00001
NM_015627.3(LDLRAP1):c.617-8C>T rs746302717 0.00001
NM_174936.4(PCSK9):c.-8T>C rs886039837 0.00001
NM_174936.4(PCSK9):c.1029C>T (p.Asp343=) rs1159305130 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.1181-6C>T rs1301884424 0.00001
NM_174936.4(PCSK9):c.1293G>A (p.Glu431=) rs777706463 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.1413C>T (p.Ala471=) rs1357691724 0.00001
NM_174936.4(PCSK9):c.1423G>A (p.Ala475Thr) rs773699134 0.00001
NM_174936.4(PCSK9):c.1427G>A (p.Arg476His) rs376388695 0.00001
NM_174936.4(PCSK9):c.1504-15G>A rs765073505 0.00001
NM_174936.4(PCSK9):c.1560C>T (p.Val520=) rs542863545 0.00001
NM_174936.4(PCSK9):c.1606G>A (p.Val536Ile) rs776367625 0.00001
NM_174936.4(PCSK9):c.165A>T (p.Ala55=) rs1277316217 0.00001
NM_174936.4(PCSK9):c.1686C>T (p.Cys562=) rs762083133 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.1827A>G (p.Lys609=) rs765626863 0.00001
NM_174936.4(PCSK9):c.1839T>C (p.His613=) rs767139884 0.00001
NM_174936.4(PCSK9):c.186C>T (p.Ala62=) rs1359899317 0.00001
NM_174936.4(PCSK9):c.1899T>A (p.Thr633=) rs1202472675 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.2023G>A (p.Val675Ile) rs760981278 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.213G>A (p.Pro71=) rs1243883156 0.00001
NM_174936.4(PCSK9):c.400-7T>C rs866539996 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.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.615C>T (p.Phe205=) rs759797943 0.00001
NM_174936.4(PCSK9):c.636C>T (p.Asp212=) rs757510932 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.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.755del (p.Val252fs) rs779469742 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.894C>T (p.Asn298=) rs1157271008 0.00001
NM_174936.4(PCSK9):c.936C>T (p.Val312=) rs752401519 0.00001
NC_000019.10:g.11089352G>A rs2077054310
NC_000019.10:g.11089427C>A rs1568582299
NC_000019.10:g.11089452G>A rs944580031
NM_000384.3(APOB):c.10581G>C (p.Arg3527=)
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.129G>A (p.Ala43=) rs12720850
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.13608G>T (p.Thr4536=) rs377641527
NM_000384.3(APOB):c.13638A>C (p.Thr4546=) rs777726812
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.237+8G>T rs1558577757
NM_000384.3(APOB):c.238-9A>T rs1664122164
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000527.4(LDLR):c.-166A>G rs1238262444
NM_000527.4(LDLR):c.-97G>T rs944580031
NM_000527.5(LDLR):c.*1A>G rs2077715480
NM_000527.5(LDLR):c.1014C>T (p.Cys338=) rs879254755
NM_000527.5(LDLR):c.1020C>T (p.Cys340=) rs777524402
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1026C>T (p.Asp342=) rs780563386
NM_000527.5(LDLR):c.102C>T (p.Cys34=)
NM_000527.5(LDLR):c.1044C>T (p.Ala348=) rs2147239196
NM_000527.5(LDLR):c.1050A>G (p.Arg350=)
NM_000527.5(LDLR):c.105A>G (p.Gln35=)
NM_000527.5(LDLR):c.1060+10G>T rs12710260
NM_000527.5(LDLR):c.1060+10_1060+11delinsCA rs2077364942
NM_000527.5(LDLR):c.1060+10_1060+11inv
NM_000527.5(LDLR):c.1060+11G>A
NM_000527.5(LDLR):c.1060+12G>A
NM_000527.5(LDLR):c.1060+12G>T
NM_000527.5(LDLR):c.1060+15G>T
NM_000527.5(LDLR):c.1060+16G>T
NM_000527.5(LDLR):c.1060+18C>T
NM_000527.5(LDLR):c.1060+7C>G
NM_000527.5(LDLR):c.1061-11C>T
NM_000527.5(LDLR):c.1061-14TC[3]
NM_000527.5(LDLR):c.1061-15_1061-14del
NM_000527.5(LDLR):c.1061-19C>T
NM_000527.5(LDLR):c.1061-9C>T
NM_000527.5(LDLR):c.1062T>C (p.Asp354=) rs2147241169
NM_000527.5(LDLR):c.1068T>C (p.Asp356=)
NM_000527.5(LDLR):c.1083C>T (p.Pro361=) rs567564778
NM_000527.5(LDLR):c.1086C>T (p.Asp362=)
NM_000527.5(LDLR):c.1089C>T (p.Thr363=) rs2147241371
NM_000527.5(LDLR):c.1092C>T (p.Cys364=) rs1555804729
NM_000527.5(LDLR):c.1101C>T (p.Leu367=)
NM_000527.5(LDLR):c.1111C>T (p.Leu371=) rs2147241475
NM_000527.5(LDLR):c.111G>C (p.Gly37=)
NM_000527.5(LDLR):c.1122C>T (p.Gly374=) rs2077376999
NM_000527.5(LDLR):c.1125C>T (p.Tyr375=) rs1446284201
NM_000527.5(LDLR):c.1131C>T (p.Cys377=) rs1479733657
NM_000527.5(LDLR):c.1134G>A (p.Gln378=)
NM_000527.5(LDLR):c.1140G>A (p.Glu380=) rs1168542168
NM_000527.5(LDLR):c.1143A>G (p.Glu381=)
NM_000527.5(LDLR):c.1146C>T (p.Gly382=) rs1158580981
NM_000527.5(LDLR):c.1153C>T (p.Leu385=) rs879254808
NM_000527.5(LDLR):c.1155G>C (p.Leu385=) rs1347387935
NM_000527.5(LDLR):c.1173C>T (p.Ala391=)
NM_000527.5(LDLR):c.1186+11G>A rs879254822
NM_000527.5(LDLR):c.1186+15G>T
NM_000527.5(LDLR):c.1186+16C>T
NM_000527.5(LDLR):c.1186+17G>A
NM_000527.5(LDLR):c.1186+19C>A
NM_000527.5(LDLR):c.1186+19C>T
NM_000527.5(LDLR):c.1186+20G>A
NM_000527.5(LDLR):c.1186+3G>A rs1568601796
NM_000527.5(LDLR):c.1186+6C>T
NM_000527.5(LDLR):c.1186+8C>G rs746742171
NM_000527.5(LDLR):c.1187-10G>T rs765696008
NM_000527.5(LDLR):c.1187-14C>T rs1284033782
NM_000527.5(LDLR):c.1187-18C>T
NM_000527.5(LDLR):c.1187-4C>T
NM_000527.5(LDLR):c.1187-6C>T
NM_000527.5(LDLR):c.1187-7C>T rs773740254
NM_000527.5(LDLR):c.1187-8A>G rs2147246774
NM_000527.5(LDLR):c.1187-9G>A rs896885804
NM_000527.5(LDLR):c.1191C>A (p.Ser397=)
NM_000527.5(LDLR):c.1191C>T (p.Ser397=) rs2147246846
NM_000527.5(LDLR):c.1194C>A (p.Ile398=) rs13306498
NM_000527.5(LDLR):c.1200C>T (p.Tyr400=)
NM_000527.5(LDLR):c.1203C>A (p.Leu401=) rs1247641764
NM_000527.5(LDLR):c.1215C>T (p.Asn405=) rs879254837
NM_000527.5(LDLR):c.1224G>A (p.Glu408=)
NM_000527.5(LDLR):c.1227C>T (p.Val409=) rs2147247089
NM_000527.5(LDLR):c.1230G>A (p.Arg410=) rs879254839
NM_000527.5(LDLR):c.1239G>C (p.Thr413=)
NM_000527.5(LDLR):c.1242G>C (p.Leu414=)
NM_000527.5(LDLR):c.1246C>A (p.Arg416=)
NM_000527.5(LDLR):c.1257C>T (p.Tyr419=) rs774439908
NM_000527.5(LDLR):c.1263C>T (p.Ser421=) rs752942769
NM_000527.5(LDLR):c.1272C>G (p.Pro424=) rs2147247369
NM_000527.5(LDLR):c.1272C>T (p.Pro424=)
NM_000527.5(LDLR):c.1281G>A (p.Arg427=) rs1568603617
NM_000527.5(LDLR):c.1287G>A (p.Val429=)
NM_000527.5(LDLR):c.1287G>C (p.Val429=)
NM_000527.5(LDLR):c.1287G>T (p.Val429=) rs2077410111
NM_000527.5(LDLR):c.1290C>T (p.Val430=) rs1568603661
NM_000527.5(LDLR):c.1294C>T (p.Leu432=) rs730882100
NM_000527.5(LDLR):c.129G>A (p.Lys43=) rs1308223575
NM_000527.5(LDLR):c.1305G>A (p.Glu435=) rs2147247595
NM_000527.5(LDLR):c.1314C>T (p.Ser438=) rs2077411000
NM_000527.5(LDLR):c.1317T>C (p.Asn439=) rs879254860
NM_000527.5(LDLR):c.1323C>A (p.Ile441=) rs5933
NM_000527.5(LDLR):c.1326C>T (p.Tyr442=) rs879254865
NM_000527.5(LDLR):c.1335C>T (p.Asp445=) rs749780672
NM_000527.5(LDLR):c.1336C>T (p.Leu446=) rs375651668
NM_000527.5(LDLR):c.1338G>C (p.Leu446=)
NM_000527.5(LDLR):c.1344G>A (p.Gln448=)
NM_000527.5(LDLR):c.1358+10G>A
NM_000527.5(LDLR):c.1358+10G>T rs373060981
NM_000527.5(LDLR):c.1358+14C>T
NM_000527.5(LDLR):c.1358+19T>G
NM_000527.5(LDLR):c.1358+20G>A
NM_000527.5(LDLR):c.1358+20dup
NM_000527.5(LDLR):c.1358+7G>C
NM_000527.5(LDLR):c.1359-13C>A
NM_000527.5(LDLR):c.1359-14T>G rs2077413900
NM_000527.5(LDLR):c.1359-20C>T
NM_000527.5(LDLR):c.1359-26G>A rs2077413668
NM_000527.5(LDLR):c.1359-29G>C
NM_000527.5(LDLR):c.1359-5C>T rs531005522
NM_000527.5(LDLR):c.1359-6C>A
NM_000527.5(LDLR):c.1359-6C>T
NM_000527.5(LDLR):c.1362C>T (p.Thr454=)
NM_000527.5(LDLR):c.1368T>A (p.Leu456=) rs2077414640
NM_000527.5(LDLR):c.1371C>T (p.Asp457=) rs1600727269
NM_000527.5(LDLR):c.1377C>G (p.Ala459=) rs2077414954
NM_000527.5(LDLR):c.1377C>T (p.Ala459=)
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.5(LDLR):c.1392C>T (p.Ser464=) rs762817882
NM_000527.5(LDLR):c.1398C>T (p.Asp466=) rs897952686
NM_000527.5(LDLR):c.1407C>T (p.Ile469=)
NM_000527.5(LDLR):c.1425C>G (p.Ala475=) rs2147248612
NM_000527.5(LDLR):c.1428C>G (p.Pro476=) rs543392107
NM_000527.5(LDLR):c.1435C>T (p.Leu479=)
NM_000527.5(LDLR):c.1437G>A (p.Leu479=)
NM_000527.5(LDLR):c.1440T>G (p.Ala480=) rs2147248763
NM_000527.5(LDLR):c.144C>A (p.Gly48=) rs1250260327
NM_000527.5(LDLR):c.1455C>T (p.His485=) rs879254908
NM_000527.5(LDLR):c.1461C>T (p.Asn487=) rs2147248901
NM_000527.5(LDLR):c.1467C>T (p.Tyr489=) rs370777955
NM_000527.5(LDLR):c.1473C>G (p.Thr491=) rs558238642
NM_000527.5(LDLR):c.1483C>T (p.Leu495=) rs2077418963
NM_000527.5(LDLR):c.1485G>A (p.Leu495=)
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1494C>G (p.Val498=) rs921522373
NM_000527.5(LDLR):c.1497T>C (p.Ser499=)
NM_000527.5(LDLR):c.1503G>C (p.Ala501=) rs368889457
NM_000527.5(LDLR):c.1506T>C (p.Asp502=) rs1194124578
NM_000527.5(LDLR):c.150T>C (p.Ala50=) rs1456739064
NM_000527.5(LDLR):c.1518G>A (p.Val506=)
NM_000527.5(LDLR):c.1524G>A (p.Arg508=)
NM_000527.5(LDLR):c.1527A>G (p.Lys509=) rs1224556829
NM_000527.5(LDLR):c.1533A>G (p.Leu511=) rs1568604780
NM_000527.5(LDLR):c.153G>A (p.Glu51=)
NM_000527.5(LDLR):c.1551C>T (p.Ser517=) rs2077421219
NM_000527.5(LDLR):c.1554G>A (p.Lys518=)
NM_000527.5(LDLR):c.156C>T (p.Cys52=)
NM_000527.5(LDLR):c.1575T>C (p.Asp525=)
NM_000527.5(LDLR):c.1584T>C (p.His528=) rs2147249727
NM_000527.5(LDLR):c.1586+12C>T
NM_000527.5(LDLR):c.1586+17C>T
NM_000527.5(LDLR):c.1586+19G>A
NM_000527.5(LDLR):c.1586+9C>G rs1600728459
NM_000527.5(LDLR):c.1587-17C>A
NM_000527.5(LDLR):c.1587-7C>T
NM_000527.5(LDLR):c.15C>G (p.Gly5=)
NM_000527.5(LDLR):c.1626C>A (p.Ile542=)
NM_000527.5(LDLR):c.1626C>T (p.Ile542=)
NM_000527.5(LDLR):c.162T>C (p.Asp54=)
NM_000527.5(LDLR):c.1638C>A (p.Gly546=) rs1480572702
NM_000527.5(LDLR):c.1638C>T (p.Gly546=) rs1480572702
NM_000527.5(LDLR):c.1641G>T (p.Leu547=)
NM_000527.5(LDLR):c.1659C>T (p.Tyr553=)
NM_000527.5(LDLR):c.1665G>A (p.Leu555=)
NM_000527.5(LDLR):c.1683G>A (p.Gln561=) rs2077460841
NM_000527.5(LDLR):c.1705+13G>T
NM_000527.5(LDLR):c.1705+19C>T
NM_000527.5(LDLR):c.1705+20G>C
NM_000527.5(LDLR):c.1705+9G>T rs370098796
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1706-12T>C
NM_000527.5(LDLR):c.1706-14A>G
NM_000527.5(LDLR):c.1706-7T>G rs2147257137
NM_000527.5(LDLR):c.1706-8G>A
NM_000527.5(LDLR):c.1706-8G>T
NM_000527.5(LDLR):c.171T>C (p.Asp57=) rs2147210704
NM_000527.5(LDLR):c.1722C>T (p.Arg574=) rs538805346
NM_000527.5(LDLR):c.174G>A (p.Glu58=)
NM_000527.5(LDLR):c.1752C>T (p.Ser584=) rs2077472678
NM_000527.5(LDLR):c.1755C>T (p.Ile585=) rs2147257512
NM_000527.5(LDLR):c.1758A>G (p.Ser586=)
NM_000527.5(LDLR):c.1761C>T (p.Ser587=) rs753430282
NM_000527.5(LDLR):c.1776G>C (p.Gly592=) rs1204342348
NM_000527.5(LDLR):c.1779C>A (p.Gly593=) rs1263256149
NM_000527.5(LDLR):c.177C>T (p.Ser59=) rs2147210742
NM_000527.5(LDLR):c.1783C>A (p.Arg595=)
NM_000527.5(LDLR):c.1795T>C (p.Leu599=) rs1472402792
NM_000527.5(LDLR):c.1803T>C (p.Asp601=) rs2147257837
NM_000527.5(LDLR):c.1809G>A (p.Lys603=)
NM_000527.5(LDLR):c.1812G>A (p.Arg604=)
NM_000527.5(LDLR):c.1818C>G (p.Ala606=) rs2147257930
NM_000527.5(LDLR):c.1821C>T (p.His607=)
NM_000527.5(LDLR):c.1824C>A (p.Pro608=)
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.183G>A (p.Glu61=) rs2147210752
NM_000527.5(LDLR):c.1845+15C>T rs759867686
NM_000527.5(LDLR):c.1845+16G>A
NM_000527.5(LDLR):c.1845+18G>A
NM_000527.5(LDLR):c.1845+6G>A rs2077476248
NM_000527.5(LDLR):c.1846-10G>A rs368243304
NM_000527.5(LDLR):c.1846-13G>C
NM_000527.5(LDLR):c.1846-19T>C
NM_000527.5(LDLR):c.1846-20C>A
NM_000527.5(LDLR):c.1846-7T>C rs2147264763
NM_000527.5(LDLR):c.1846-8C>T rs1600742028
NM_000527.5(LDLR):c.1846-9C>A rs1568610732
NM_000527.5(LDLR):c.1846-9C>T rs1568610732
NM_000527.5(LDLR):c.1848C>T (p.Asp616=) rs2077522347
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1863A>G (p.Thr621=) rs768509914
NM_000527.5(LDLR):c.1869C>A (p.Ile623=) rs765202964
NM_000527.5(LDLR):c.1881C>T (p.Ala627=) rs2147264976
NM_000527.5(LDLR):c.190+10C>G rs371130326
NM_000527.5(LDLR):c.190+10C>T
NM_000527.5(LDLR):c.190+16G>A
NM_000527.5(LDLR):c.190+20G>T
NM_000527.5(LDLR):c.190+7C>A rs2147210840
NM_000527.5(LDLR):c.190+8C>G
NM_000527.5(LDLR):c.1902C>G (p.Leu634=) rs1294679576
NM_000527.5(LDLR):c.191-13G>A
NM_000527.5(LDLR):c.191-15C>A
NM_000527.5(LDLR):c.191-15C>G rs749245318
NM_000527.5(LDLR):c.191-20C>T
NM_000527.5(LDLR):c.191-5T>C rs770931363
NM_000527.5(LDLR):c.1911C>A (p.Ser637=)
NM_000527.5(LDLR):c.1914T>C (p.Asp638=)
NM_000527.5(LDLR):c.1924T>C (p.Leu642=) rs2147265150
NM_000527.5(LDLR):c.1926G>A (p.Leu642=) rs2077525029
NM_000527.5(LDLR):c.1936C>T (p.Leu646=)
NM_000527.5(LDLR):c.1938A>G (p.Leu646=)
NM_000527.5(LDLR):c.1939C>T (p.Leu647=) rs1600742572
NM_000527.5(LDLR):c.1950G>A (p.Glu650=) rs776805847
NM_000527.5(LDLR):c.1953T>C (p.Asp651=) rs2147265292
NM_000527.5(LDLR):c.195T>C (p.Ser65=)
NM_000527.5(LDLR):c.1962C>G (p.Leu654=) rs2077526378
NM_000527.5(LDLR):c.1962C>T (p.Leu654=) rs2077526378
NM_000527.5(LDLR):c.1980G>A (p.Gln660=)
NM_000527.5(LDLR):c.1987+14A>C
NM_000527.5(LDLR):c.1987+20A>G
NM_000527.5(LDLR):c.1987+6G>C rs752382813
NM_000527.5(LDLR):c.1987+8T>G rs762335641
NM_000527.5(LDLR):c.1987+9G>T rs2147265519
NM_000527.5(LDLR):c.1988-13T>C rs200201131
NM_000527.5(LDLR):c.1988-17del
NM_000527.5(LDLR):c.1988-18C>T
NM_000527.5(LDLR):c.1988-5C>T rs375877599
NM_000527.5(LDLR):c.1995C>T (p.Asn665=) rs2077529992
NM_000527.5(LDLR):c.2004G>A (p.Glu668=) rs1408395014
NM_000527.5(LDLR):c.2007G>A (p.Arg669=) rs1031256388
NM_000527.5(LDLR):c.2010C>T (p.Thr670=)
NM_000527.5(LDLR):c.2013C>T (p.Thr671=) rs550649956
NM_000527.5(LDLR):c.2014C>T (p.Leu672=)
NM_000527.5(LDLR):c.2016G>A (p.Leu672=) rs2147265941
NM_000527.5(LDLR):c.2016G>C (p.Leu672=)
NM_000527.5(LDLR):c.2019C>T (p.Ser673=) rs1344440347
NM_000527.5(LDLR):c.201C>G (p.Thr67=)
NM_000527.5(LDLR):c.2046C>T (p.Leu682=)
NM_000527.5(LDLR):c.2049T>G (p.Pro683=)
NM_000527.5(LDLR):c.2052C>G (p.Ala684=) rs760034984
NM_000527.5(LDLR):c.2052C>T (p.Ala684=) rs760034984
NM_000527.5(LDLR):c.2061C>T (p.Ile687=)
NM_000527.5(LDLR):c.2073G>A (p.Ser691=) rs146869252
NM_000527.5(LDLR):c.2073G>T (p.Ser691=) rs146869252
NM_000527.5(LDLR):c.2076C>G (p.Pro692=)
NM_000527.5(LDLR):c.2079G>A (p.Lys693=) rs551528700
NM_000527.5(LDLR):c.2085C>T (p.Thr695=)
NM_000527.5(LDLR):c.2091C>T (p.Ala697=)
NM_000527.5(LDLR):c.2106G>C (p.Met702Ile)
NM_000527.5(LDLR):c.2110C>T (p.Leu704=) rs2077534808
NM_000527.5(LDLR):c.2112G>A (p.Leu704=) rs1386500934
NM_000527.5(LDLR):c.2127G>A (p.Arg709=)
NM_000527.5(LDLR):c.2140+11C>G
NM_000527.5(LDLR):c.2140+13C>T
NM_000527.5(LDLR):c.2140+14C>T rs756150298
NM_000527.5(LDLR):c.2140+15T>C
NM_000527.5(LDLR):c.2140+16T>G
NM_000527.5(LDLR):c.2140+20T>G
NM_000527.5(LDLR):c.2141-10A>G rs2147272715
NM_000527.5(LDLR):c.2141-17T>G
NM_000527.5(LDLR):c.2141-18G>A
NM_000527.5(LDLR):c.2141-19C>T
NM_000527.5(LDLR):c.2141-7C>A rs2147272729
NM_000527.5(LDLR):c.2141-9T>C rs2147272719
NM_000527.5(LDLR):c.2148G>A (p.Glu716=) rs2077583057
NM_000527.5(LDLR):c.2154A>G (p.Ala718=) rs780348211
NM_000527.5(LDLR):c.2172A>T (p.Thr724=) rs2147272846
NM_000527.5(LDLR):c.2178C>A (p.Thr726=) rs1027266368
NM_000527.5(LDLR):c.2178C>T (p.Thr726=) rs1027266368
NM_000527.5(LDLR):c.2205C>T (p.Ala735=) rs763213863
NM_000527.5(LDLR):c.2208A>T (p.Val736=) rs1600751949
NM_000527.5(LDLR):c.2211G>A (p.Arg737=) rs2077585097
NM_000527.5(LDLR):c.2220C>T (p.His740=)
NM_000527.5(LDLR):c.2224A>G (p.Thr742Ala) rs1568614637
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_000527.5(LDLR):c.2241C>A (p.Pro747=) rs554523758
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2244C>T (p.Asp748=)
NM_000527.5(LDLR):c.2247C>G (p.Thr749=) rs2077586087
NM_000527.5(LDLR):c.2247C>T (p.Thr749=) rs2077586087
NM_000527.5(LDLR):c.2250C>T (p.Ser750=)
NM_000527.5(LDLR):c.2262G>C (p.Gly754=)
NM_000527.5(LDLR):c.2268C>T (p.Thr756=) rs2077586867
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2274G>A (p.Gly758=) rs2147273345
NM_000527.5(LDLR):c.2283G>A (p.Thr761=) rs771325747
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.228G>A (p.Gly76=)
NM_000527.5(LDLR):c.2298A>G (p.Thr766=)
NM_000527.5(LDLR):c.2307C>T (p.His769=) rs760479588
NM_000527.5(LDLR):c.2311+12G>C
NM_000527.5(LDLR):c.2311+7A>G
NM_000527.5(LDLR):c.2312-14C>A
NM_000527.5(LDLR):c.2312-15G>T
NM_000527.5(LDLR):c.2312-6C>T rs1568618143
NM_000527.5(LDLR):c.2312-9C>G rs2147283193
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
NM_000527.5(LDLR):c.2314C>T (p.Leu772=)
NM_000527.5(LDLR):c.2319C>A (p.Gly773=) rs377563758
NM_000527.5(LDLR):c.231C>T (p.Gly77=) rs1425452256
NM_000527.5(LDLR):c.2334A>G (p.Arg778=)
NM_000527.5(LDLR):c.2346G>A (p.Lys782=) rs1057519688
NM_000527.5(LDLR):c.2349G>A (p.Lys783=) rs2147283390
NM_000527.5(LDLR):c.2370G>C (p.Leu790=)
NM_000527.5(LDLR):c.2376T>A (p.Ile792=)
NM_000527.5(LDLR):c.2376T>C (p.Ile792=) rs2077662374
NM_000527.5(LDLR):c.2379C>T (p.Val793=)
NM_000527.5(LDLR):c.2389+11G>A
NM_000527.5(LDLR):c.2389+15G>C
NM_000527.5(LDLR):c.2389+19C>T
NM_000527.5(LDLR):c.2389+24_2389+33del
NM_000527.5(LDLR):c.2389+24_2389+33dup rs755102689
NM_000527.5(LDLR):c.2389+7G>A
NM_000527.5(LDLR):c.2389+9G>A rs768455845
NM_000527.5(LDLR):c.2389+9G>C rs768455845
NM_000527.5(LDLR):c.2390-10C>T rs1600764877
NM_000527.5(LDLR):c.2390-14G>C
NM_000527.5(LDLR):c.2390-16G>T
NM_000527.5(LDLR):c.2390-17C>T
NM_000527.5(LDLR):c.2390-20G>A
NM_000527.5(LDLR):c.2390-4A>G rs2147286667
NM_000527.5(LDLR):c.2390-7C>T
NM_000527.5(LDLR):c.2391G>T (p.Val797=) rs752846235
NM_000527.5(LDLR):c.2394C>G (p.Leu798=) rs755872240
NM_000527.5(LDLR):c.2403C>T (p.Phe801=) rs2147286811
NM_000527.5(LDLR):c.2409C>T (p.Cys803=) rs2077686463
NM_000527.5(LDLR):c.2410C>T (p.Leu804=)
NM_000527.5(LDLR):c.2425C>T (p.Leu809=) rs2147286940
NM_000527.5(LDLR):c.2440C>A (p.Arg814=) rs746616623
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2466C>T (p.Asn822=)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2490G>A (p.Lys830=)
NM_000527.5(LDLR):c.2496A>G (p.Thr832=) rs1600765476
NM_000527.5(LDLR):c.2508C>T (p.Val836=) rs1568619789
NM_000527.5(LDLR):c.2514T>A (p.Ile838=) rs2077689379
NM_000527.5(LDLR):c.2517C>T (p.Cys839=)
NM_000527.5(LDLR):c.2520C>T (p.His840=) rs2077689495
NM_000527.5(LDLR):c.2541C>T (p.Tyr847=) rs757997480
NM_000527.5(LDLR):c.2547+10C>T rs2147287504
NM_000527.5(LDLR):c.2547+13C>T
NM_000527.5(LDLR):c.2547+15C>T
NM_000527.5(LDLR):c.2547+17A>G
NM_000527.5(LDLR):c.2547+8A>T
NM_000527.5(LDLR):c.2547+9C>A rs746674813
NM_000527.5(LDLR):c.2547+9C>T rs746674813
NM_000527.5(LDLR):c.2548-7T>C
NM_000527.5(LDLR):c.2548-8G>A rs1249096480
NM_000527.5(LDLR):c.2548-8G>C rs1249096480
NM_000527.5(LDLR):c.255G>A (p.Gln85=) rs879254450
NM_000527.5(LDLR):c.2580G>A (p.Ala860=) rs1285017808
NM_000527.5(LDLR):c.2580G>T (p.Ala860=)
NM_000527.5(LDLR):c.2581_2582insA (p.Ter861=)
NM_000527.5(LDLR):c.2582G>A (p.Ter861=) rs1317489157
NM_000527.5(LDLR):c.264G>A (p.Arg88=)
NM_000527.5(LDLR):c.270T>C (p.Asp90=) rs372828849
NM_000527.5(LDLR):c.273C>T (p.Gly91=)
NM_000527.5(LDLR):c.279G>A (p.Val93=)
NM_000527.5(LDLR):c.27C>T (p.Arg9=) rs2077057436
NM_000527.5(LDLR):c.288C>T (p.Asp96=)
NM_000527.5(LDLR):c.303G>A (p.Glu101=) rs1600705245
NM_000527.5(LDLR):c.313+15G>A
NM_000527.5(LDLR):c.313+8T>A rs2077233874
NM_000527.5(LDLR):c.313+8T>C
NM_000527.5(LDLR):c.314-10A>G
NM_000527.5(LDLR):c.314-10A>T
NM_000527.5(LDLR):c.314-12C>A
NM_000527.5(LDLR):c.314-12C>G
NM_000527.5(LDLR):c.314-4G>T
NM_000527.5(LDLR):c.314-5T>C rs757545965
NM_000527.5(LDLR):c.314-6C>T rs2147223016
NM_000527.5(LDLR):c.314-7C>T
NM_000527.5(LDLR):c.314-9T>A
NM_000527.5(LDLR):c.318C>G (p.Pro106=) rs1218762668
NM_000527.5(LDLR):c.324G>A (p.Thr108=) rs146517429
NM_000527.5(LDLR):c.336C>T (p.Asp112=) rs747806084
NM_000527.5(LDLR):c.33C>G (p.Thr11=)
NM_000527.5(LDLR):c.33C>T (p.Thr11=) rs748734643
NM_000527.5(LDLR):c.348C>T (p.Cys116=)
NM_000527.5(LDLR):c.354T>C (p.Asp118=) rs2077267881
NM_000527.5(LDLR):c.363C>T (p.Cys121=) rs1555803191
NM_000527.5(LDLR):c.375G>A (p.Gln125=) rs2147223505
NM_000527.5(LDLR):c.394C>A (p.Arg132=)
NM_000527.5(LDLR):c.396G>A (p.Arg132=) rs2077269758
NM_000527.5(LDLR):c.399C>T (p.Asp133=) rs2077269856
NM_000527.5(LDLR):c.402C>T (p.Cys134=) rs879254515
NM_000527.5(LDLR):c.403T>C (p.Leu135=)
NM_000527.5(LDLR):c.432G>C (p.Pro144=) rs769228052
NM_000527.5(LDLR):c.438C>T (p.Leu146=)
NM_000527.5(LDLR):c.441C>T (p.Thr147=) rs2147223916
NM_000527.5(LDLR):c.462G>A (p.Gln154=) rs2077272207
NM_000527.5(LDLR):c.474C>T (p.Ser158=) rs2147224085
NM_000527.5(LDLR):c.477C>A (p.Thr159=)
NM_000527.5(LDLR):c.477C>G (p.Thr159=)
NM_000527.5(LDLR):c.477C>T (p.Thr159=)
NM_000527.5(LDLR):c.483C>A (p.Ile161=) rs942136566
NM_000527.5(LDLR):c.483C>T (p.Ile161=)
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.504C>T (p.Asp168=) rs777321035
NM_000527.5(LDLR):c.513C>A (p.Pro171=)
NM_000527.5(LDLR):c.519C>T (p.Cys173=) rs769318035
NM_000527.5(LDLR):c.51C>T (p.Ala17=) rs2077058281
NM_000527.5(LDLR):c.525T>C (p.Asp175=)
NM_000527.5(LDLR):c.543G>T (p.Pro181=) rs766577671
NM_000527.5(LDLR):c.54G>C (p.Ala18=) rs2077058406
NM_000527.5(LDLR):c.552T>C (p.Cys184=)
NM_000527.5(LDLR):c.555G>A (p.Arg185=) rs1277068624
NM_000527.5(LDLR):c.558T>C (p.Gly186=)
NM_000527.5(LDLR):c.567G>C (p.Val189=) rs753329861
NM_000527.5(LDLR):c.567G>T (p.Val189=) rs753329861
NM_000527.5(LDLR):c.570C>T (p.Phe190=) rs146332179
NM_000527.5(LDLR):c.594G>A (p.Ser198=) rs777740535
NM_000527.5(LDLR):c.594G>C (p.Ser198=) rs777740535
NM_000527.5(LDLR):c.597C>T (p.Ala199=) rs749351012
NM_000527.5(LDLR):c.59G>A (p.Gly20Glu) rs1568582750
NM_000527.5(LDLR):c.600C>T (p.Phe200=)
NM_000527.5(LDLR):c.603G>A (p.Glu201=)
NM_000527.5(LDLR):c.621C>A (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.621C>G (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.627C>T (p.Cys209=) rs2147225118
NM_000527.5(LDLR):c.630C>T (p.Ile210=) rs1600711081
NM_000527.5(LDLR):c.633C>T (p.His211=) rs2147225166
NM_000527.5(LDLR):c.636C>T (p.Ser212=) rs538030445
NM_000527.5(LDLR):c.63T>G (p.Thr21=)
NM_000527.5(LDLR):c.645C>T (p.Arg215=)
NM_000527.5(LDLR):c.657C>G (p.Gly219=)
NM_000527.5(LDLR):c.657C>T (p.Gly219=) rs1031127300
NM_000527.5(LDLR):c.663C>T (p.Asp221=)
NM_000527.5(LDLR):c.669G>A (p.Lys223=)
NM_000527.5(LDLR):c.67+18C>T
NM_000527.5(LDLR):c.67+20C>G
NM_000527.5(LDLR):c.67+6G>A rs1369961980
NM_000527.5(LDLR):c.68-12C>T
NM_000527.5(LDLR):c.68-13T>C
NM_000527.5(LDLR):c.68-13T>G
NM_000527.5(LDLR):c.68-14T>C
NM_000527.5(LDLR):c.68-16T>A
NM_000527.5(LDLR):c.68-4T>C rs2077192055
NM_000527.5(LDLR):c.68-8T>C rs2077191949
NM_000527.5(LDLR):c.684G>A (p.Glu228=)
NM_000527.5(LDLR):c.690C>T (p.Asn230=) rs879254643
NM_000527.5(LDLR):c.693C>T (p.Cys231=)
NM_000527.5(LDLR):c.694+12G>A
NM_000527.5(LDLR):c.694+13C>T
NM_000527.5(LDLR):c.694+15A>G
NM_000527.5(LDLR):c.694+15A>T rs776688837
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.694+6G>A rs1019330092
NM_000527.5(LDLR):c.694+7G>A rs1600711821
NM_000527.5(LDLR):c.694+7G>C rs1600711821
NM_000527.5(LDLR):c.694+8_694+18del rs777512182
NM_000527.5(LDLR):c.694+9G>T
NM_000527.5(LDLR):c.695-10T>C rs778975482
NM_000527.5(LDLR):c.695-10T>G
NM_000527.5(LDLR):c.695-13T>C rs879254650
NM_000527.5(LDLR):c.695-15T>G
NM_000527.5(LDLR):c.695-17T>C
NM_000527.5(LDLR):c.695-18C>G
NM_000527.5(LDLR):c.695-3C>T rs745897889
NM_000527.5(LDLR):c.695-9G>A rs1453690068
NM_000527.5(LDLR):c.711C>A (p.Arg237=)
NM_000527.5(LDLR):c.729C>T (p.Cys243=)
NM_000527.5(LDLR):c.735T>C (p.Asp245=) rs1256476287
NM_000527.5(LDLR):c.741C>T (p.Asn247=)
NM_000527.5(LDLR):c.744C>T (p.Cys248=) rs879254664
NM_000527.5(LDLR):c.747C>T (p.Ile249=)
NM_000527.5(LDLR):c.750T>C (p.His250=) rs141929940
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.759G>A (p.Arg253=) rs2077299486
NM_000527.5(LDLR):c.759G>T (p.Arg253=)
NM_000527.5(LDLR):c.762G>A (p.Gln254=)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.780C>T (p.Asp260=)
NM_000527.5(LDLR):c.798T>C (p.Asp266=) rs139043155
NM_000527.5(LDLR):c.804T>C (p.Val268=)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.816T>C (p.Asn272=) rs1329690965
NM_000527.5(LDLR):c.817+13C>T
NM_000527.5(LDLR):c.817+18G>C
NM_000527.5(LDLR):c.817+19G>A
NM_000527.5(LDLR):c.817+7G>T rs572275000
NM_000527.5(LDLR):c.817+9T>C
NM_000527.5(LDLR):c.818-13C>T
NM_000527.5(LDLR):c.818-20C>G
NM_000527.5(LDLR):c.818-4A>G
NM_000527.5(LDLR):c.818-5C>T
NM_000527.5(LDLR):c.818-7C>A
NM_000527.5(LDLR):c.825C>G (p.Leu275=)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.867C>T (p.Cys289=)
NM_000527.5(LDLR):c.873C>A (p.Thr291=)
NM_000527.5(LDLR):c.873C>T (p.Thr291=)
NM_000527.5(LDLR):c.885C>T (p.Val295=)
NM_000527.5(LDLR):c.897T>G (p.Ala299=) rs2147231171
NM_000527.5(LDLR):c.900A>G (p.Arg300=)
NM_000527.5(LDLR):c.903C>T (p.Asp301=)
NM_000527.5(LDLR):c.924A>G (p.Glu308=) rs1057519664
NM_000527.5(LDLR):c.930C>T (p.Ile310=) rs2147231392
NM_000527.5(LDLR):c.936G>A (p.Glu312=) rs2077315472
NM_000527.5(LDLR):c.939C>T (p.Cys313=)
NM_000527.5(LDLR):c.93G>A (p.Glu31=)
NM_000527.5(LDLR):c.940+17G>T
NM_000527.5(LDLR):c.940+18C>T
NM_000527.5(LDLR):c.940+19G>A
NM_000527.5(LDLR):c.940+7C>A
NM_000527.5(LDLR):c.940+8T>C rs1342359699
NM_000527.5(LDLR):c.940+9C>G
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-10C>T rs2147238414
NM_000527.5(LDLR):c.941-11G>T
NM_000527.5(LDLR):c.941-14C>T
NM_000527.5(LDLR):c.941-16C>A
NM_000527.5(LDLR):c.941-20C>T
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.941-8C>G rs2077359932
NM_000527.5(LDLR):c.951A>G (p.Glu317=) rs1568600233
NM_000527.5(LDLR):c.955T>C (p.Leu319=)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.972C>T (p.Gly324=)
NM_000527.5(LDLR):c.975T>C (p.Cys325=)
NM_000527.5(LDLR):c.978C>G (p.Ser326=) rs1268166199
NM_000527.5(LDLR):c.982G>A (p.Val328Ile) rs768925824
NM_000527.5(LDLR):c.984C>G (p.Val328=)
NM_000527.5(LDLR):c.987C>T (p.Cys329=)
NM_000527.5(LDLR):c.990T>A (p.Asn330Lys) rs1568600400
NM_000527.5(LDLR):c.9C>T (p.Pro3=) rs2147186453
NM_015627.3(LDLRAP1):c.27G>A (p.Arg9=) rs1340216590
NM_015627.3(LDLRAP1):c.363A>G (p.Ala121=) rs1572039510
NM_174936.4(PCSK9):c.-9C>T rs1225046798
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.1030C>T (p.Gln344Ter) rs72646513
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.1095G>A (p.Gly365=) rs780649814
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.1133_1134delinsAA (p.Cys378Ter) rs1553137557
NM_174936.4(PCSK9):c.1144_1145del (p.Gln382fs) rs751063800
NM_174936.4(PCSK9):c.1149del (p.Ser383fs) rs1557506363
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.1212G>C (p.Pro404=) rs777470856
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>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.132C>T (p.Ala44=) rs1178309760
NM_174936.4(PCSK9):c.1332G>A (p.Leu444=) rs886046433
NM_174936.4(PCSK9):c.1335C>T (p.Pro445=) rs1200168752
NM_174936.4(PCSK9):c.1355-4G>T rs1644733187
NM_174936.4(PCSK9):c.1356T>G (p.Gly452=) rs886038746
NM_174936.4(PCSK9):c.1378_1380delinsTG (p.Val460fs) rs1644733412
NM_174936.4(PCSK9):c.1380_1382delinsGTA (p.Trp461Ter) rs1644733538
NM_174936.4(PCSK9):c.1395G>C (p.Ser465=)
NM_174936.4(PCSK9):c.1401T>A (p.Pro467=) rs1380003284
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.142G>T (p.Glu48Ter) rs1278890129
NM_174936.4(PCSK9):c.1449G>T (p.Leu483=)
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.1503+20GT[19] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[20] rs35115360
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.1514dup (p.Lys506fs) rs1644742420
NM_174936.4(PCSK9):c.1515C>A (p.Gly505=) rs1042826452
NM_174936.4(PCSK9):c.1538del (p.Asn513fs) rs2100330364
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.1591C>T (p.Gln531Ter) rs1644743243
NM_174936.4(PCSK9):c.1623A>G (p.Pro541=) rs1644743439
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.1682-3dup rs749072203
NM_174936.4(PCSK9):c.1682-6C>T
NM_174936.4(PCSK9):c.1746A>G (p.Arg582=) rs1644757971
NM_174936.4(PCSK9):c.1779G>A (p.Glu593=) rs1453831826
NM_174936.4(PCSK9):c.178A>G (p.Thr60Ala)
NM_174936.4(PCSK9):c.1797C>T (p.Ser599=) rs1349990848
NM_174936.4(PCSK9):c.1864-5G>T rs1644776869
NM_174936.4(PCSK9):c.1887C>T (p.Gly629=)
NM_174936.4(PCSK9):c.1901_1904dup (p.Cys635fs) rs1644777247
NM_174936.4(PCSK9):c.1914C>T (p.Leu638=) rs948729146
NM_174936.4(PCSK9):c.192C>T (p.Phe64=)
NM_174936.4(PCSK9):c.1945_1954del (p.Ala649fs) rs1644777752
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.1987A>G (p.Thr663Ala) rs1325251210
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.2055G>A (p.Ala685=) rs1490853919
NM_174936.4(PCSK9):c.207+6G>A rs1306315743
NM_174936.4(PCSK9):c.208-10A>G rs761104090
NM_174936.4(PCSK9):c.252G>A (p.Glu84=) rs768895535
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.27C>G (p.Ser9=) rs562480265
NM_174936.4(PCSK9):c.327C>G (p.Thr109=) rs759986372
NM_174936.4(PCSK9):c.36G>A (p.Pro12=) rs1202453511
NM_174936.4(PCSK9):c.393G>A (p.Leu131=)
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.411G>A (p.Leu137=)
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.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[5] (p.Leu22_Leu23del) rs35574083
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
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.501G>A (p.Arg167=) rs748481228
NM_174936.4(PCSK9):c.513C>A (p.Tyr171Ter) rs1644637183
NM_174936.4(PCSK9):c.522C>T (p.Pro174=) rs373018373
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.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.634_644del (p.Asp212fs) rs1644681304
NM_174936.4(PCSK9):c.651_652del (p.His217fs) rs1644681507
NM_174936.4(PCSK9):c.658-10C>G rs375695759
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.714T>C (p.Asp238=) rs1300943486
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.800-12T>C rs1644710625
NM_174936.4(PCSK9):c.800-5C>T rs1644710672
NM_174936.4(PCSK9):c.81C>T (p.Gly27=) rs1288602841
NM_174936.4(PCSK9):c.820del (p.Ser274fs)
NM_174936.4(PCSK9):c.84C>T (p.Ala28=) rs1570290647
NM_174936.4(PCSK9):c.855G>A (p.Val285=) rs2100311818
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.897C>T (p.Ala299=) rs1644711792
NM_174936.4(PCSK9):c.90G>A (p.Ala30=) rs1644585418
NM_174936.4(PCSK9):c.939C>T (p.Thr313=) rs534113572
NM_174936.4(PCSK9):c.954C>T (p.Phe318=)
NM_174936.4(PCSK9):c.95AGGACG[3] (p.32ED[3]) rs746705490
NM_174936.4(PCSK9):c.993C>G (p.Pro331=) rs376753957
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.999C>A (p.Val333=)

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