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
Download table as spreadsheet
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
NM_000527.4(LDLR):c.-217C>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
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_000527.4(LDLR):c.-97G>C rs944580031 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
NR_163945.1(LDLR-AS1):n.316C>A rs1310257411 0.00001
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.-122C>A rs1568582299
NM_000527.4(LDLR):c.-166A>G rs1238262444
NM_000527.4(LDLR):c.-97G>A rs944580031
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=)
NR_163945.1(LDLR-AS1):n.308C>T rs2077054310

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.