ClinVar Miner

List of variants in gene LDLR reported as likely benign for Familial hypercholesterolemia

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Gene type:
ClinVar version:
Total variants: 775
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NC_000019.10:g.11089332C>T rs17249141 0.00338
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
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_000527.5(LDLR):c.*19G>A rs56270417 0.00117
NM_000527.5(LDLR):c.858C>T (p.Ser286=) rs140241383 0.00116
NM_000527.5(LDLR):c.828C>T (p.Cys276=) rs146651743 0.00096
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_000527.5(LDLR):c.2055G>A (p.Pro685=) rs149126953 0.00040
NM_000527.5(LDLR):c.694+9G>A rs34093283 0.00040
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_000527.5(LDLR):c.1530G>A (p.Thr510=) rs367655096 0.00019
NM_000527.5(LDLR):c.345C>G (p.Arg115=) rs150144164 0.00018
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_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_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_000527.5(LDLR):c.1580T>C (p.Val527Ala) rs730882107 0.00008
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540 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_000527.5(LDLR):c.108C>T (p.Asp36=) rs373144619 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_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_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_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_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
NC_000019.10:g.11089344G>T rs1310257411 0.00001
NC_000019.10:g.11089452G>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.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
NC_000019.10:g.11089352G>A rs2077054310
NC_000019.10:g.11089427C>A rs1568582299
NC_000019.10:g.11089452G>A rs944580031
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.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

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