ClinVar Miner

List of variants in gene LDLR studied for Familial hypercholesterolemia

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Gene type:
ClinVar version:
Total variants: 2204
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.*315G>C rs2738464 0.80309
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65878
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671 0.08613
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07003
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_000527.5(LDLR):c.1187-25C>T rs72658862 0.00812
NM_000527.4(LDLR):c.-268G>T rs17249134 0.00679
NM_000527.4(LDLR):c.-217C>T rs17249141 0.00338
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00260
NM_000527.5(LDLR):c.2390-16G>A rs183496025 0.00221
NM_000527.5(LDLR):c.1545C>T (p.Asn515=) rs147896205 0.00183
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
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.1705+20G>A rs374417615 0.00107
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.1056C>T (p.Cys352=) rs13306515 0.00026
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.1009G>A (p.Glu337Lys) rs539080792 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_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.2101G>A (p.Gly701Ser) rs368838866 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_000527.5(LDLR):c.643C>T (p.Arg215Cys) rs764042910 0.00011
NM_000527.5(LDLR):c.68-18C>G rs370599334 0.00010
NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys) rs879254934 0.00009
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.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala) rs730882107 0.00008
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540 0.00008
NM_000527.5(LDLR):c.2179G>A (p.Val727Ile) rs769247787 0.00008
NM_000527.5(LDLR):c.2358C>T (p.Ser786=) rs183255090 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.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000527.5(LDLR):c.267C>T (p.Cys89=) rs777640882 0.00007
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) rs749322464 0.00006
NM_000527.5(LDLR):c.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.1887C>T (p.Phe629=) rs751234870 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.200C>T (p.Thr67Ile) rs1337448484 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn) rs138190838 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.2389+13C>T rs372802068 0.00006
NM_000527.5(LDLR):c.2397C>T (p.Leu799=) rs367882846 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.681C>T (p.Asp227=) rs121908028 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_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.710G>A (p.Arg237His) rs148171426 0.00005
NM_000527.5(LDLR):c.861C>T (p.Gly287=) rs770191650 0.00005
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.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.1444G>A (p.Asp482Asn) rs139624145 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.1868T>C (p.Ile623Thr) rs141155833 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.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_000527.5(LDLR):c.2140+86C>T rs587776886 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.291C>T (p.Asn97=) rs372845091 0.00004
NM_000527.5(LDLR):c.434T>C (p.Val145Ala) rs776872913 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn) rs562712652 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.817+14A>G rs201875602 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000527.4(LDLR):c.-286C>G rs989307060 0.00003
NM_000527.5(LDLR):c.-121T>C rs777716188 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.1061A>T (p.Asp354Val) rs755449669 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.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.1335C>G (p.Asp445Glu) rs749780672 0.00003
NM_000527.5(LDLR):c.1431C>T (p.Asp477=) rs368610522 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 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.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.1835C>T (p.Ala612Val) rs377449975 0.00003
NM_000527.5(LDLR):c.186G>A (p.Thr62=) rs55958434 0.00003
NM_000527.5(LDLR):c.1957G>A (p.Val653Ile) rs879255085 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.2323G>A (p.Val775Ile) rs199766976 0.00003
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala) rs780300776 0.00003
NM_000527.5(LDLR):c.2359G>A (p.Val787Met) rs143771219 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000527.5(LDLR):c.2398G>A (p.Val800Ile) rs200243555 0.00003
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00003
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00003
NM_000527.5(LDLR):c.2510A>G (p.His837Arg) rs150631538 0.00003
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu) rs377437226 0.00003
NM_000527.5(LDLR):c.285C>T (p.Cys95=) rs139400379 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.300C>T (p.Asp100=) rs766709484 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 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.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.717C>T (p.Asp239=) rs1286110371 0.00003
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys) rs1208667598 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000527.4(LDLR):c.-139C>G rs879254371 0.00002
NM_000527.4(LDLR):c.-153C>T rs879254366 0.00002
NM_000527.5(LDLR):c.-13A>G rs376011618 0.00002
NM_000527.5(LDLR):c.-23A>C rs763282380 0.00002
NM_000527.5(LDLR):c.-26G>T rs930509187 0.00002
NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln) rs875989914 0.00002
NM_000527.5(LDLR):c.1065C>T (p.Ile355=) rs960032925 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg) rs746982741 0.00002
NM_000527.5(LDLR):c.1104C>T (p.Cys368=) rs113669610 0.00002
NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys) rs983617416 0.00002
NM_000527.5(LDLR):c.1162C>A (p.His388Asn) rs764551797 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1187-7C>A rs773740254 0.00002
NM_000527.5(LDLR):c.1209C>T (p.Phe403=) rs777903106 0.00002
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) rs749780672 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.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) rs875989924 0.00002
NM_000527.5(LDLR):c.1705+8C>T rs754924276 0.00002
NM_000527.5(LDLR):c.1706-21_1706-19del rs386134242 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.1767T>C (p.Asp589=) rs781481963 0.00002
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) rs763147599 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.1900C>T (p.Leu634Phe) rs1279368649 0.00002
NM_000527.5(LDLR):c.1988-4C>T rs781188770 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 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.2195G>C (p.Ser732Thr) rs764542721 0.00002
NM_000527.5(LDLR):c.226G>C (p.Gly76Arg) rs574337291 0.00002
NM_000527.5(LDLR):c.2277C>T (p.Leu759=) rs796145467 0.00002
NM_000527.5(LDLR):c.2301G>A (p.Met767Ile) rs149237737 0.00002
NM_000527.5(LDLR):c.2307C>G (p.His769Gln) rs760479588 0.00002
NM_000527.5(LDLR):c.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.2552A>G (p.Gln851Arg) rs372328061 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 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.395G>A (p.Arg132Gln) rs751519676 0.00002
NM_000527.5(LDLR):c.408C>T (p.Asp136=) rs759738744 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_000527.5(LDLR):c.608A>G (p.His203Arg) rs774600508 0.00002
NM_000527.5(LDLR):c.64G>T (p.Ala22Ser) rs942568624 0.00002
NM_000527.5(LDLR):c.651T>C (p.Asp217=) rs201374693 0.00002
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282 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.988A>C (p.Asn330His) rs730882095 0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_000527.4(LDLR):c.-102A>G rs1357531646 0.00001
NM_000527.4(LDLR):c.-115T>G rs1164871419 0.00001
NM_000527.4(LDLR):c.-120C>T rs875989886 0.00001
NM_000527.4(LDLR):c.-162G>C rs934014113 0.00001
NM_000527.4(LDLR):c.-97G>C rs944580031 0.00001
NM_000527.5(LDLR):c.-14C>A rs879254380 0.00001
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp) rs869320650 0.00001
NM_000527.5(LDLR):c.1008C>T (p.Tyr336=) rs767024374 0.00001
NM_000527.5(LDLR):c.1019G>T (p.Cys340Phe) rs755757866 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.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1060+18C>A rs780579614 0.00001
NM_000527.5(LDLR):c.1060+2T>G rs774069731 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1061-9C>G rs765020792 0.00001
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776 0.00001
NM_000527.5(LDLR):c.1065C>G (p.Ile355Met) rs960032925 0.00001
NM_000527.5(LDLR):c.1105G>A (p.Val369Met) rs730882097 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1164C>T (p.His388=) rs1215990807 0.00001
NM_000527.5(LDLR):c.1186+10G>C rs781336025 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 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.118A>G (p.Ile40Val) rs765969972 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1234A>T (p.Met412Leu) rs1225797407 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1239G>A (p.Thr413=) rs777011006 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 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.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1336C>A (p.Leu446Met) rs375651668 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.1367T>C (p.Leu456Pro) rs200143634 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1384G>A (p.Val462Ile) rs750363970 0.00001
NM_000527.5(LDLR):c.138C>T (p.Cys46=) rs754676104 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 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.1435C>G (p.Leu479Val) rs1254928151 0.00001
NM_000527.5(LDLR):c.1489A>G (p.Thr497Ala) rs879254920 0.00001
NM_000527.5(LDLR):c.1494C>T (p.Val498=) rs921522373 0.00001
NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys) rs766929574 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 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.153G>C (p.Glu51Asp) rs772188884 0.00001
NM_000527.5(LDLR):c.1564A>C (p.Ile522Leu) rs774337050 0.00001
NM_000527.5(LDLR):c.1566C>T (p.Ile522=) rs759322565 0.00001
NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu) rs763884010 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025 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.1592T>A (p.Met531Lys) rs779913921 0.00001
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys) rs2077458389 0.00001
NM_000527.5(LDLR):c.1632A>G (p.Lys544=) rs1291759570 0.00001
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319 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.1661C>T (p.Ser554Leu) rs879254976 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.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1702C>T (p.Leu568=) rs746959386 0.00001
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766 0.00001
NM_000527.5(LDLR):c.1771A>G (p.Asn591Asp) rs140644832 0.00001
NM_000527.5(LDLR):c.1773_1775del (p.Asn591_Gly592delinsLys) rs1221971156 0.00001
NM_000527.5(LDLR):c.1776G>T (p.Gly592=) rs1204342348 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1791C>T (p.Thr597=) rs947350236 0.00001
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp) rs1410295777 0.00001
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser) rs879255034 0.00001
NM_000527.5(LDLR):c.1845+11C>T rs370245937 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.1846-15T>C rs772268064 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 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.1886T>G (p.Phe629Cys) rs879255069 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) rs764550980 0.00001
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349 0.00001
NM_000527.5(LDLR):c.1912G>A (p.Asp638Asn) rs757672647 0.00001
NM_000527.5(LDLR):c.1929T>C (p.Ala643=) rs2077525125 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.1974C>T (p.Leu658=) rs546153613 0.00001
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) rs879255094 0.00001
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr) rs1182317785 0.00001
NM_000527.5(LDLR):c.2018G>A (p.Ser673Asn) rs1273197962 0.00001
NM_000527.5(LDLR):c.2022T>C (p.Asn674=) rs1320831782 0.00001
NM_000527.5(LDLR):c.2025C>T (p.Gly675=) rs778781895 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 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.2061dup (p.Asn688fs) rs137853965 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.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn) rs879255142 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2140+11C>T rs780701050 0.00001
NM_000527.5(LDLR):c.2140+12G>A rs1409963984 0.00001
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.2190G>A (p.Lys730=) rs1430407684 0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) rs547268730 0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) rs767546791 0.00001
NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter) rs200793488 0.00001
NM_000527.5(LDLR):c.2239C>A (p.Pro747Thr) rs1484331319 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 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.2291T>C (p.Ile764Thr) rs759440817 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.2343G>T (p.Glu781Asp) rs761683856 0.00001
NM_000527.5(LDLR):c.2347A>C (p.Lys783Gln) rs769318961 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.2395C>T (p.Leu799Phe) rs72658869 0.00001
NM_000527.5(LDLR):c.239A>G (p.Asn80Ser) rs1173004910 0.00001
NM_000527.5(LDLR):c.2415G>A (p.Gly805=) rs1232565045 0.00001
NM_000527.5(LDLR):c.2416G>T (p.Val806Phe) rs745429866 0.00001
NM_000527.5(LDLR):c.2418C>A (p.Val806=) rs771705902 0.00001
NM_000527.5(LDLR):c.242G>A (p.Arg81His) rs1299591218 0.00001
NM_000527.5(LDLR):c.2440C>T (p.Arg814Trp) rs746616623 0.00001
NM_000527.5(LDLR):c.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.2499G>T (p.Glu833Asp) rs752936229 0.00001
NM_000527.5(LDLR):c.2529C>T (p.Asp843=) rs374635484 0.00001
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser) rs1555809614 0.00001
NM_000527.5(LDLR):c.2535C>T (p.Tyr845=) rs139796500 0.00001
NM_000527.5(LDLR):c.2548-12A>G rs771336748 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.286G>A (p.Asp96Asn) rs774858755 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.314-2A>C rs879254470 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 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.398A>C (p.Asp133Ala) rs1317204420 0.00001
NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) rs755799528 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.42G>C (p.Leu14Phe) rs369608025 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.451G>C (p.Ala151Pro) rs763233960 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.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) rs777321035 0.00001
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 0.00001
NM_000527.5(LDLR):c.513C>T (p.Pro171=) rs747327435 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 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.544C>T (p.Gln182Ter) rs879254570 0.00001
NM_000527.5(LDLR):c.565G>C (p.Val189Leu) rs370820135 0.00001
NM_000527.5(LDLR):c.572A>C (p.Gln191Pro) rs1423948022 0.00001
NM_000527.5(LDLR):c.581del (p.Ser194fs) rs2077276693 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.620G>A (p.Gly207Asp) rs759737884 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.68-9C>G rs1284807471 0.00001
NM_000527.5(LDLR):c.688A>G (p.Asn230Asp) rs1266776177 0.00001
NM_000527.5(LDLR):c.694+8C>T rs370855899 0.00001
NM_000527.5(LDLR):c.694G>A (p.Ala232Thr) rs72658857 0.00001
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys) rs879254657 0.00001
NM_000527.5(LDLR):c.711C>T (p.Arg237=) rs780294768 0.00001
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr) rs879254665 0.00001
NM_000527.5(LDLR):c.758G>A (p.Arg253Gln) rs139507589 0.00001
NM_000527.5(LDLR):c.770G>A (p.Arg257Gln) rs757808215 0.00001
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter) rs879254672 0.00001
NM_000527.5(LDLR):c.774A>G (p.Glu258=) rs1307291980 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.783C>T (p.Cys261=) rs1057519663 0.00001
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly) rs141681167 0.00001
NM_000527.5(LDLR):c.790A>C (p.Met264Leu) rs730882088 0.00001
NM_000527.5(LDLR):c.795C>T (p.Ser265=) rs146181232 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 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+5G>C rs770636985 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.820del (p.Thr274fs) rs751122998 0.00001
NM_000527.5(LDLR):c.843G>A (p.Lys281=) rs778510630 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 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.908G>A (p.Arg303Gln) rs730882093 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr) rs761765254 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
NM_000527.5(LDLR):c.940+4A>C rs768247312 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.947A>G (p.Asn316Ser) rs730882094 0.00001
NM_000527.5(LDLR):c.948C>T (p.Asn316=) rs780673258 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_000527.5(LDLR):c.962A>G (p.Asn321Ser) rs2077360926 0.00001
NM_000527.5(LDLR):c.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
NR_163945.1(LDLR-AS1):n.302G>T rs934415028 0.00001
NR_163945.1(LDLR-AS1):n.316C>A rs1310257411 0.00001
FH Aarhus
NC_000019.10:g.(?_11089282)_(11100355_?)del
NC_000019.10:g.(?_11089282)_(11131359_?)del
NC_000019.10:g.(?_11100203)_(11102806_?)del
NC_000019.10:g.(?_11100203)_(11107534_?)del
NC_000019.10:g.(?_11100213)_(11102796_?)del
NC_000019.10:g.(?_11100213)_(11107528_?)del
NC_000019.10:g.(?_11102644)_(11107534_?)del
NC_000019.10:g.(?_11102654)_(11106697_?)del
NC_000019.10:g.(?_11102654)_(11107528_?)del
NC_000019.10:g.(?_11105200)_(11107534_?)del
NC_000019.10:g.(?_11105210)_(11107528_?)del
NC_000019.10:g.(?_11110613)_(11111650_?)del
NC_000019.10:g.(?_11110613)_(11117013_?)del
NC_000019.10:g.(?_11110613)_(11117013_?)dup
NC_000019.10:g.(?_11113268)_(11117013_?)dup
NC_000019.10:g.(?_11116074)_(11117018_?)del
NC_000019.10:g.(?_11116084)_(11116222_?)del
NC_000019.10:g.(?_11116084)_(11117013_?)del
NC_000019.10:g.(?_11116084)_(11120608_?)del
NC_000019.10:g.(?_11116849)_(11120608_?)del
NC_000019.10:g.(?_11120082)_(11120608_?)del
NC_000019.10:g.(?_11120086)_(11129676_?)dup
NC_000019.10:g.(?_11123154)_(11131359_?)del
NC_000019.10:g.(?_11127998)_(11128095_?)del
NC_000019.10:g.(?_11127998)_(11131359_?)del
NC_000019.10:g.(?_11129503)_(11131359_?)del
NC_000019.10:g.11136960G>T
NC_000019.9:g.(?_11199955)_(11218210_?)dup
NC_000019.9:g.(?_11210879)_(11216296_?)del
NC_000019.9:g.(?_11210879)_(11218210_?)dup
NC_000019.9:g.(?_11210879)_(11221467_?)dup
NC_000019.9:g.(?_11210879)_(11222335_?)dup
NC_000019.9:g.(?_11210879)_(11227694_?)dup
NC_000019.9:g.(?_11213320)_(11216296_?)del
NC_000019.9:g.(?_11213320)_(11217383_?)del
NC_000019.9:g.(?_11213320)_(11218210_?)dup
NC_000019.9:g.(?_11213330)_(11222326_?)del
NC_000019.9:g.(?_11213330)_(11227689_?)dup
NC_000019.9:g.(?_11215876)_(11241992_?)del
NC_000019.9:g.(?_11217221)_(11217383_?)del
NC_000019.9:g.(?_11217231)_(11218204_?)del
NC_000019.9:g.(?_11217231)_(11224448_?)del
NC_000019.9:g.(?_11218048)_(11218210_?)del
NC_000019.9:g.(?_11221289)_(11221471_?)del
NC_000019.9:g.(?_11221308)_(11234040_?)del
NC_000019.9:g.(?_11221308)_(11234040_?)dup
NC_000019.9:g.(?_11223934)_(11224458_?)dup
NC_000019.9:g.(?_11223934)_(11231218_?)del
NC_000019.9:g.(?_11223934)_(11234040_?)del
NC_000019.9:g.(?_11223934)_(11241992_?)del
NC_000019.9:g.(?_11223944)_(11227689_?)del
NC_000019.9:g.(?_11223948)_(11241997_?)del
NC_000019.9:g.(?_11227515)_(11241992_?)del
NC_000019.9:g.(?_11230748)_(11231218_?)del
NC_000019.9:g.(?_11230748)_(11231218_?)dup
NC_000019.9:g.(?_11230748)_(11234040_?)del
NC_000019.9:g.(?_11230748)_(11234040_?)dup
NC_000019.9:g.(?_11230748)_(11240366_?)dup
NC_000019.9:g.(?_11230758)_(11240356_?)dup
NC_000019.9:g.(?_11233830)_(11238781_?)del
NC_000019.9:g.(?_11233830)_(11242035_?)dup
NC_000019.9:g.(?_11234271)_(11242805_?)dup
NC_000019.9:g.(?_11238664)_(11238781_?)dup
NC_000019.9:g.(?_11238664)_(11241992_?)del
NC_000019.9:g.(?_11238684)_(11248011_?)dup
NC_000019.9:g.(?_11240169)_(11240366_?)del
NC_000019.9:g.(?_11240169)_(11241992_?)del
NC_000019.9:g.(?_11240179)_(11241992_?)del
NC_000019.9:g.(?_11241937)_(11241992_?)del
NC_000019.9:g.(?_11241937)_(11241992_?)dup
NM_000527.4(LDLR):c.-101T>C rs747068848
NM_000527.4(LDLR):c.-107T>C rs1568582310
NM_000527.4(LDLR):c.-120C>A rs875989886
NM_000527.4(LDLR):c.-122C>A rs1568582299
NM_000527.4(LDLR):c.-122C>T rs1568582299
NM_000527.4(LDLR):c.-133C>T rs2077055227
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-136C>G rs879254374
NM_000527.4(LDLR):c.-136C>T rs879254374
NM_000527.4(LDLR):c.-138del rs387906307
NM_000527.4(LDLR):c.-139C>T rs879254371
NM_000527.4(LDLR):c.-139_-130del rs2077055015
NM_000527.4(LDLR):c.-142C>G rs879254370
NM_000527.4(LDLR):c.-149C>A rs879254368
NM_000527.4(LDLR):c.-151C>A
NM_000527.4(LDLR):c.-152C>T
NM_000527.4(LDLR):c.-156C>T rs879254364
NM_000527.4(LDLR):c.-158A>T
NM_000527.4(LDLR):c.-166A>C
NM_000527.4(LDLR):c.-166A>G rs1238262444
NM_000527.4(LDLR):c.-169G>C rs1230170597
NM_000527.4(LDLR):c.-172G>A rs1555800629
NM_000527.4(LDLR):c.-178T>C
NM_000527.4(LDLR):c.-187_-185del rs1270618112
NM_000527.4(LDLR):c.-228G>C
NM_000527.4(LDLR):c.-88G>A
NM_000527.4(LDLR):c.-89C>T
NM_000527.4(LDLR):c.-94G>T rs1212116636
NM_000527.4(LDLR):c.-97G>A rs944580031
NM_000527.4(LDLR):c.-97G>T rs944580031
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.*1A>G rs2077715480
NM_000527.5(LDLR):c.*2098C>G
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.-190C>T rs2077054428
NM_000527.5(LDLR):c.-22C>T
NM_000527.5(LDLR):c.-23A>G rs763282380
NM_000527.5(LDLR):c.-45A>T rs2147186240
NM_000527.5(LDLR):c.-48A>G
NM_000527.5(LDLR):c.-55_-52del rs2077055920
NM_000527.5(LDLR):c.-56T>C
NM_000527.5(LDLR):c.-74del
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg) rs544453230
NM_000527.5(LDLR):c.1003G>T (p.Gly335Cys) rs544453230
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1006T>G (p.Tyr336Asp) rs759398558
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.5(LDLR):c.1008del (p.Gly335_Tyr336insTer) rs879254751
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1010A>G (p.Glu337Gly) rs2077362818
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter) rs2077362782
NM_000527.5(LDLR):c.1011G>C (p.Glu337Asp)
NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
NM_000527.5(LDLR):c.1013G>C (p.Cys338Ser) rs879254754
NM_000527.5(LDLR):c.1014C>T (p.Cys338=) rs879254755
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu) rs879254758
NM_000527.5(LDLR):c.1020C>T (p.Cys340=) rs777524402
NM_000527.5(LDLR):c.1023del (p.Asp342fs) rs1600720921
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1026C>T (p.Asp342=) rs780563386
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.102C>T (p.Cys34=)
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
NM_000527.5(LDLR):c.1039_1040insA (p.Val347fs)
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter) rs879254408
NM_000527.5(LDLR):c.1044C>T (p.Ala348=) rs2147239196
NM_000527.5(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.5(LDLR):c.1048C>G (p.Arg350Gly)
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1050A>G (p.Arg350=)
NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe) rs193922566
NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter) rs13306515
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.5(LDLR):c.1056_1060+3del rs879254770
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.105A>G (p.Gln35=)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1060+10G>C
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+133C>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+7=
NM_000527.5(LDLR):c.1060+7C>G
NM_000527.5(LDLR):c.1060G>A (p.Asp354Asn)
NM_000527.5(LDLR):c.1061-11C>T
NM_000527.5(LDLR):c.1061-143C>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.1061-2A>G rs879254773
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1061-9C>T
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1062T>C (p.Asp354=) rs2147241169
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1067A>T (p.Asp356Val) rs879254777
NM_000527.5(LDLR):c.1067_1068insAGAGTGTCAGGATCCCGA (p.Ile355_Asp356insGluGluCysGlnAspPro)
NM_000527.5(LDLR):c.1068T>C (p.Asp356=)
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1072T>C (p.Cys358Arg) rs879254783
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1075C>A (p.Gln359Lys)
NM_000527.5(LDLR):c.1075C>T (p.Gln359Ter) rs879254784
NM_000527.5(LDLR):c.1083C>T (p.Pro361=) rs567564778
NM_000527.5(LDLR):c.1086C>T (p.Asp362=)
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
NM_000527.5(LDLR):c.1088C>T (p.Thr363Ile)
NM_000527.5(LDLR):c.1089C>T (p.Thr363=) rs2147241371
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.5(LDLR):c.108_109insT (p.Gly37fs) rs2147210293
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr) rs879254788
NM_000527.5(LDLR):c.1092C>A (p.Cys364Ter) rs1555804729
NM_000527.5(LDLR):c.1092C>T (p.Cys364=) rs1555804729
NM_000527.5(LDLR):c.1098_1109del (p.Gln366_Asn370delinsHis) rs878854024
NM_000527.5(LDLR):c.109G>A (p.Gly37Arg) rs2077193497
NM_000527.5(LDLR):c.1101C>T (p.Leu367=)
NM_000527.5(LDLR):c.1102T>A (p.Cys368Ser)
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr) rs879254792
NM_000527.5(LDLR):c.1109A>T (p.Asn370Ile)
NM_000527.5(LDLR):c.1111C>T (p.Leu371=) rs2147241475
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1118G>C (p.Gly373Ala) rs879254797
NM_000527.5(LDLR):c.1118G>T (p.Gly373Val) rs879254797
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.111G>C (p.Gly37=)
NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs) rs879254799
NM_000527.5(LDLR):c.1122C>T (p.Gly374=) rs2077376999
NM_000527.5(LDLR):c.1123T>G (p.Tyr375Asp)
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1125C>T (p.Tyr375=) rs1446284201
NM_000527.5(LDLR):c.1127A>T (p.Lys376Met) rs2077377185
NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg)
NM_000527.5(LDLR):c.1129dup (p.Cys377fs) rs2077377269
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.5(LDLR):c.1130del (p.Cys377fs) rs1131692205
NM_000527.5(LDLR):c.1131C>T (p.Cys377=) rs1479733657
NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter) rs879254802
NM_000527.5(LDLR):c.1134G>A (p.Gln378=)
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1140G>A (p.Glu380=) rs1168542168
NM_000527.5(LDLR):c.1143A>G (p.Glu381=)
NM_000527.5(LDLR):c.1145G>A (p.Gly382Asp) rs752951310
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1146C>T (p.Gly382=) rs1158580981
NM_000527.5(LDLR):c.114A>C (p.Lys38Asn) rs2147210320
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter) rs879254805
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
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.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu) rs879254810
NM_000527.5(LDLR):c.115T>C (p.Cys39Arg) rs1555802275
NM_000527.5(LDLR):c.1162C>G (p.His388Asp) rs764551797
NM_000527.5(LDLR):c.1162_1173del (p.His388_Ala391del) rs2147241831
NM_000527.5(LDLR):c.1162del (p.His388fs) rs875989917
NM_000527.5(LDLR):c.1165A>G (p.Thr389Ala)
NM_000527.5(LDLR):c.1166C>A (p.Thr389Lys)
NM_000527.5(LDLR):c.1167del (p.Lys390fs) rs2147241875
NM_000527.5(LDLR):c.1169A>G (p.Lys390Arg) rs2077378748
NM_000527.5(LDLR):c.116dup (p.Cys39fs) rs2147210341
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1171G>C (p.Ala391Pro)
NM_000527.5(LDLR):c.1171del (p.Ala391fs) rs2147241900
NM_000527.5(LDLR):c.1173C>T (p.Ala391=)
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg) rs879254814
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1177A>G (p.Lys393Glu)
NM_000527.5(LDLR):c.1179G>T (p.Lys393Asn) rs879254816
NM_000527.5(LDLR):c.117C>T (p.Cys39=) rs2077193721
NM_000527.5(LDLR):c.1180G>T (p.Ala394Ser) rs2077379274
NM_000527.5(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.5(LDLR):c.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+2T>G rs779921498
NM_000527.5(LDLR):c.1186+3G>A rs1568601796
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1186+6C>T
NM_000527.5(LDLR):c.1186+8C>G rs746742171
NM_000527.5(LDLR):c.1187-10G>A
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.1187-1G>T rs879254824
NM_000527.5(LDLR):c.1187-1_1187delinsTA rs2147246807
NM_000527.5(LDLR):c.1187-2A>G rs879254823
NM_000527.5(LDLR):c.1187-3dup
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.1187G>C (p.Gly396Ala)
NM_000527.5(LDLR):c.1187G>T (p.Gly396Val) rs766474188
NM_000527.5(LDLR):c.1187del
NM_000527.5(LDLR):c.1189T>C (p.Ser397Pro) rs879254825
NM_000527.5(LDLR):c.1190C>T (p.Ser397Phe) rs2077406646
NM_000527.5(LDLR):c.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.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter) rs879254827
NM_000527.5(LDLR):c.1200C>T (p.Tyr400=)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1203C>A (p.Leu401=) rs1247641764
NM_000527.5(LDLR):c.1209C>A (p.Phe403Leu) rs777903106
NM_000527.5(LDLR):c.1214A>G (p.Asn405Ser)
NM_000527.5(LDLR):c.1214_1217dup (p.His407fs) rs2077407494
NM_000527.5(LDLR):c.1215C>A (p.Asn405Lys)
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.5(LDLR):c.1215C>T (p.Asn405=) rs879254837
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1221C>A (p.His407Gln)
NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln) rs137943601
NM_000527.5(LDLR):c.1222G>T (p.Glu408Ter) rs137943601
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1224G>A (p.Glu408=)
NM_000527.5(LDLR):c.1227C>T (p.Val409=) rs2147247089
NM_000527.5(LDLR):c.1228A>G (p.Arg410Gly) rs2077408020
NM_000527.5(LDLR):c.122C>T (p.Ser41Phe) rs567126042
NM_000527.5(LDLR):c.1230G>A (p.Arg410=) rs879254839
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr) rs879254842
NM_000527.5(LDLR):c.1238C>G (p.Thr413Arg)
NM_000527.5(LDLR):c.1239G>C (p.Thr413=)
NM_000527.5(LDLR):c.1242G>C (p.Leu414=)
NM_000527.5(LDLR):c.1243G>C (p.Asp415His) rs879254844
NM_000527.5(LDLR):c.1246C>A (p.Arg416=)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1247G>T (p.Arg416Leu) rs773658037
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1252G>T (p.Glu418Ter) rs869320651
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp) rs879254847
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1257C>T (p.Tyr419=) rs774439908
NM_000527.5(LDLR):c.125A>G (p.Tyr42Cys) rs2077193966
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg) rs752942769
NM_000527.5(LDLR):c.1263C>T (p.Ser421=) rs752942769
NM_000527.5(LDLR):c.1264C>T (p.Leu422Phe) rs2077409172
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter)
NM_000527.5(LDLR):c.1270C>A (p.Pro424Thr)
NM_000527.5(LDLR):c.1271C>T (p.Pro424Leu) rs868801795
NM_000527.5(LDLR):c.1272C>G (p.Pro424=) rs2147247369
NM_000527.5(LDLR):c.1272C>T (p.Pro424=)
NM_000527.5(LDLR):c.1272del (p.Asn425fs) rs1060500987
NM_000527.5(LDLR):c.1273A>G (p.Asn425Asp) rs1327586053
NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile) rs879254850
NM_000527.5(LDLR):c.1274del (p.Asn425fs)
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1281G>A (p.Arg427=) rs1568603617
NM_000527.5(LDLR):c.1284C>A (p.Asn428Lys)
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1284del (p.Asn428fs) rs2077409930
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu) rs28942078
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.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.5(LDLR):c.1292C>G (p.Ala431Gly)
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1294C>T (p.Leu432=) rs730882100
NM_000527.5(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.5(LDLR):c.1298A>C (p.Asp433Ala)
NM_000527.5(LDLR):c.129G>A (p.Lys43=) rs1308223575
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1305G>A (p.Glu435=) rs2147247595
NM_000527.5(LDLR):c.1306G>A (p.Val436Met) rs2147247608
NM_000527.5(LDLR):c.1306del (p.Val436fs) rs879254858
NM_000527.5(LDLR):c.1307T>A (p.Val436Glu) rs779732323
NM_000527.5(LDLR):c.1307T>G (p.Val436Gly)
NM_000527.5(LDLR):c.1309G>A (p.Ala437Thr) rs1223171296
NM_000527.5(LDLR):c.1309G>C (p.Ala437Pro)
NM_000527.5(LDLR):c.1314C>T (p.Ser438=) rs2077411000
NM_000527.5(LDLR):c.1316A>G (p.Asn439Ser)
NM_000527.5(LDLR):c.1317T>C (p.Asn439=) rs879254860
NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys) rs879254860
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly) rs879254861
NM_000527.5(LDLR):c.1319G>T (p.Arg440Ile)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.5(LDLR):c.1323C>A (p.Ile441=) rs5933
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter) rs879254865
NM_000527.5(LDLR):c.1326C>T (p.Tyr442=) rs879254865
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg) rs773566855
NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter) rs879254866
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.132G>C (p.Trp44Cys) rs1555802287
NM_000527.5(LDLR):c.1331C>T (p.Ser444Phe) rs2147247764
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.133G>A (p.Val45Ile)
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys) rs879254870
NM_000527.5(LDLR):c.1340C>T (p.Ser447Phe)
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1344G>A (p.Gln448=)
NM_000527.5(LDLR):c.1346G>T (p.Arg449Ile)
NM_000527.5(LDLR):c.134T>G (p.Val45Gly) rs1600700584
NM_000527.5(LDLR):c.1351A>T (p.Ile451Phe) rs879254873
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.1356C>A (p.Cys452Ter) rs137853961
NM_000527.5(LDLR):c.1357A>G (p.Ser453Gly)
NM_000527.5(LDLR):c.1357del (p.Ser453fs) rs2077412367
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+1G>A rs775924858
NM_000527.5(LDLR):c.1358+20G>A
NM_000527.5(LDLR):c.1358+20dup
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1358+2T>C rs193922567
NM_000527.5(LDLR):c.1358+7G>C
NM_000527.5(LDLR):c.1362C>T (p.Thr454=)
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe) rs761004553
NM_000527.5(LDLR):c.1368T>A (p.Leu456=) rs2077414640
NM_000527.5(LDLR):c.1369G>C (p.Asp457His)
NM_000527.5(LDLR):c.1371C>T (p.Asp457=) rs1600727269
NM_000527.5(LDLR):c.1371_1374dup (p.Ala459fs) rs875989920
NM_000527.5(LDLR):c.1374_1382del (p.Arg458_Gly461delinsSer) rs1600727285
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.1382del (p.Gly461fs) rs1600727337
NM_000527.5(LDLR):c.1392C>T (p.Ser464=) rs762817882
NM_000527.5(LDLR):c.1392del (p.Tyr465fs) rs879254888
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.1398C>T (p.Asp466=) rs897952686
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1402_1407del (p.Val468_Ile469del)
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_000527.5(LDLR):c.1407C>T (p.Ile469=)
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly) rs1057516128
NM_000527.5(LDLR):c.1408A>T (p.Ser470Cys) rs1057516128
NM_000527.5(LDLR):c.1411del (p.Arg471fs) rs2147248471
NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn) rs2077416170
NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs) rs1555805360
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.5(LDLR):c.1418_1432del (p.Ile473_Gly478delinsArg)
NM_000527.5(LDLR):c.1422G>T (p.Gln474His) rs2147248583
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1425C>G (p.Ala475=) rs2147248612
NM_000527.5(LDLR):c.1427C>G (p.Pro476Arg)
NM_000527.5(LDLR):c.1428C>G (p.Pro476=) rs543392107
NM_000527.5(LDLR):c.1428dup (p.Asp477fs) rs876657697
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1431C>G (p.Asp477Glu)
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1433G>T (p.Gly478Val)
NM_000527.5(LDLR):c.1435C>T (p.Leu479=)
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900
NM_000527.5(LDLR):c.1437G>A (p.Leu479=)
NM_000527.5(LDLR):c.1438G>A (p.Ala480Thr) rs879254901
NM_000527.5(LDLR):c.1438G>T (p.Ala480Ser)
NM_000527.5(LDLR):c.1439C>T (p.Ala480Val) rs1064794259
NM_000527.5(LDLR):c.1440T>G (p.Ala480=) rs2147248763
NM_000527.5(LDLR):c.1445A>G (p.Asp482Gly) rs879254904
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1447del (p.Trp483fs) rs2077417709
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.5(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.5(LDLR):c.144C>A (p.Gly48=) rs1250260327
NM_000527.5(LDLR):c.1450A>G (p.Ile484Val) rs2147248832
NM_000527.5(LDLR):c.1455C>T (p.His485=) rs879254908
NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn) rs879254910
NM_000527.5(LDLR):c.1459_1472dup (p.Asp492fs) rs1600727715
NM_000527.5(LDLR):c.145A>C (p.Ser49Arg) rs2077194647
NM_000527.5(LDLR):c.1460_1462del (p.Asn487del) rs879254911
NM_000527.5(LDLR):c.1461C>T (p.Asn487=) rs2147248901
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1467C>T (p.Tyr489=) rs370777955
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter) rs875989922
NM_000527.5(LDLR):c.1470G>T (p.Trp490Cys)
NM_000527.5(LDLR):c.1471A>G (p.Thr491Ala)
NM_000527.5(LDLR):c.1473C>G (p.Thr491=) rs558238642
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1483C>T (p.Leu495=) rs2077418963
NM_000527.5(LDLR):c.1484T>G (p.Leu495Arg) rs1370312225
NM_000527.5(LDLR):c.1485G>A (p.Leu495=)
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs) rs869025454
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.1490del (p.Thr497fs) rs2077419273
NM_000527.5(LDLR):c.1492G>C (p.Val498Leu)
NM_000527.5(LDLR):c.1492_1493del (p.Val498fs) rs2077419354
NM_000527.5(LDLR):c.1494C>G (p.Val498=) rs921522373
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1497T>C (p.Ser499=)
NM_000527.5(LDLR):c.1503G>C (p.Ala501=) rs368889457
NM_000527.5(LDLR):c.1503_1504dup (p.Asp502fs) rs2147249259
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.1514G>A (p.Gly505Asp) rs879254926
NM_000527.5(LDLR):c.1516G>C (p.Val506Leu) rs373848925
NM_000527.5(LDLR):c.1516dup (p.Val506fs) rs2147249327
NM_000527.5(LDLR):c.1518G>A (p.Val506=)
NM_000527.5(LDLR):c.1518_1586+340del
NM_000527.5(LDLR):c.1524G>A (p.Arg508=)
NM_000527.5(LDLR):c.1527A>G (p.Lys509=) rs1224556829
NM_000527.5(LDLR):c.1531_1532dup (p.Leu511fs) rs2147249432
NM_000527.5(LDLR):c.1533A>G (p.Leu511=) rs1568604780
NM_000527.5(LDLR):c.1533A>T (p.Leu511Phe) rs1568604780
NM_000527.5(LDLR):c.153G>A (p.Glu51=)
NM_000527.5(LDLR):c.1540G>A (p.Glu514Lys) rs1555805507
NM_000527.5(LDLR):c.1540G>T (p.Glu514Ter) rs1555805507
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1551C>T (p.Ser517=) rs2077421219
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg) rs879254938
NM_000527.5(LDLR):c.1554G>A (p.Lys518=)
NM_000527.5(LDLR):c.1554G>C (p.Lys518Asn)
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr) rs875989923
NM_000527.5(LDLR):c.1555C>T (p.Pro519Ser) rs875989923
NM_000527.5(LDLR):c.1559G>T (p.Arg520Met)
NM_000527.5(LDLR):c.1561G>T (p.Ala521Ser)
NM_000527.5(LDLR):c.1562C>T (p.Ala521Val) rs770696696
NM_000527.5(LDLR):c.1564A>G (p.Ile522Val) rs774337050
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.156C>A (p.Cys52Ter)
NM_000527.5(LDLR):c.156C>T (p.Cys52=)
NM_000527.5(LDLR):c.1574A>C (p.Asp525Ala) rs879254943
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu) rs763884010
NM_000527.5(LDLR):c.1575T>C (p.Asp525=)
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr) rs730882106
NM_000527.5(LDLR):c.1577C>A (p.Pro526His) rs879254944
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
NM_000527.5(LDLR):c.1579G>A (p.Val527Ile) rs758890891
NM_000527.5(LDLR):c.157C>T (p.Gln53Ter) rs879254419
NM_000527.5(LDLR):c.1583A>G (p.His528Arg) rs1489999751
NM_000527.5(LDLR):c.1584T>C (p.His528=) rs2147249727
NM_000527.5(LDLR):c.1585G>T (p.Gly529Cys)
NM_000527.5(LDLR):c.1586+12C>T
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.1586+17C>T
NM_000527.5(LDLR):c.1586+19G>A
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1586+4C>A
NM_000527.5(LDLR):c.1586+4C>G
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1586+9C>G rs1600728459
NM_000527.5(LDLR):c.1587-17C>A
NM_000527.5(LDLR):c.1587-1G>A rs879254948
NM_000527.5(LDLR):c.1587-3C>A
NM_000527.5(LDLR):c.1587-7C>T
NM_000527.5(LDLR):c.1592T>C (p.Met531Thr)
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.5(LDLR):c.1595A>G (p.Tyr532Cys) rs1060499925
NM_000527.5(LDLR):c.1595_1596dup (p.Trp533fs) rs1568606711
NM_000527.5(LDLR):c.1597T>G (p.Trp533Gly) rs879254951
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.5(LDLR):c.1599G>T (p.Trp533Cys)
NM_000527.5(LDLR):c.15C>G (p.Gly5=)
NM_000527.5(LDLR):c.1600_1608del (p.Thr534_Trp536del) rs879254953
NM_000527.5(LDLR):c.1603G>C (p.Asp535His)
NM_000527.5(LDLR):c.1609G>C (p.Gly537Arg)
NM_000527.5(LDLR):c.1612A>G (p.Thr538Ala) rs879254960
NM_000527.5(LDLR):c.1613C>T (p.Thr538Ile) rs776225771
NM_000527.5(LDLR):c.1615C>T (p.Pro539Ser) rs1222664147
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.161A>C (p.Asp54Ala) rs2147210651
NM_000527.5(LDLR):c.1622A>G (p.Lys541Arg)
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.1631A>C (p.Lys544Thr) rs2077459016
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1633G>C (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1636G>C (p.Gly546Arg) rs879254966
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1637G>T (p.Gly546Val) rs28942081
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.1640T>C (p.Leu547Pro) rs879254968
NM_000527.5(LDLR):c.1641G>T (p.Leu547=)
NM_000527.5(LDLR):c.1643A>G (p.Asn548Ser)
NM_000527.5(LDLR):c.1645G>C (p.Gly549Arg)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala) rs28941776
NM_000527.5(LDLR):c.1647dup (p.Val550fs) rs1600732894
NM_000527.5(LDLR):c.1648del (p.Val550fs) rs2077459772
NM_000527.5(LDLR):c.1649T>G (p.Val550Gly) rs2077459810
NM_000527.5(LDLR):c.1654A>G (p.Ile552Val) rs2077459948
NM_000527.5(LDLR):c.1656del (p.Tyr553fs)
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_000527.5(LDLR):c.1659C>T (p.Tyr553=)
NM_000527.5(LDLR):c.1659_1660insGAG (p.Tyr553_Ser554insGlu) rs2147255468
NM_000527.5(LDLR):c.1661del (p.Ser554fs) rs2147255485
NM_000527.5(LDLR):c.1663C>A (p.Leu555Met) rs2077460352
NM_000527.5(LDLR):c.1664T>G (p.Leu555Arg)
NM_000527.5(LDLR):c.1665G>A (p.Leu555=)
NM_000527.5(LDLR):c.166T>C (p.Ser56Pro) rs878854026
NM_000527.5(LDLR):c.1670C>T (p.Thr557Ile)
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.5(LDLR):c.1683G>A (p.Gln561=) rs2077460841
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup) rs879254983
NM_000527.5(LDLR):c.1685G>A (p.Trp562Ter) rs875989925
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys) rs879254985
NM_000527.5(LDLR):c.1687C>A (p.Pro563Thr) rs879254986
NM_000527.5(LDLR):c.1689dup (p.Asn564fs) rs879254988
NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del) rs879254421
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1692T>G (p.Asn564Lys)
NM_000527.5(LDLR):c.1693G>A (p.Gly565Ser)
NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg)
NM_000527.5(LDLR):c.1693G>T (p.Gly565Cys)
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1699A>G (p.Thr567Ala) rs1600733170
NM_000527.5(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.5(LDLR):c.169G>C (p.Asp57His)
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1705+13G>T
NM_000527.5(LDLR):c.1705+19C>T
NM_000527.5(LDLR):c.1705+1G>A rs875989926
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.1706-1G>A rs879254996
NM_000527.5(LDLR):c.1706-1G>T rs879254996
NM_000527.5(LDLR):c.1706-2A>T rs878854027
NM_000527.5(LDLR):c.1706-5T>A rs1161843170
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.1706A>T (p.Asp569Val) rs2147257169
NM_000527.5(LDLR):c.1708CTC[1] (p.Leu571del)
NM_000527.5(LDLR):c.170A>G (p.Asp57Gly) rs1555802310
NM_000527.5(LDLR):c.171T>C (p.Asp57=) rs2147210704
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1722C>T (p.Arg574=) rs538805346
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro) rs1249568272
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys) rs879254999
NM_000527.5(LDLR):c.1729T>A (p.Trp577Arg)
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.172G>T (p.Glu58Ter) rs879254423
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.1730_1731delinsAA (p.Trp577Ter)
NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter) rs875989928
NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1732G>T (p.Val578Phe) rs1301458707
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1738T>A (p.Ser580Thr)
NM_000527.5(LDLR):c.1739C>G (p.Ser580Cys) rs934496989
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.174G>A (p.Glu58=)
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
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.1757C>G (p.Ser586Ter) rs1555806455
NM_000527.5(LDLR):c.1758A>G (p.Ser586=)
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.1761C>T (p.Ser587=) rs753430282
NM_000527.5(LDLR):c.1765G>C (p.Asp589His) rs201971888
NM_000527.5(LDLR):c.1772_1773inv (p.Asn591Ser)
NM_000527.5(LDLR):c.1772dup (p.Asn591fs)
NM_000527.5(LDLR):c.1773_1776delinsT (p.Gly593del) rs2077473508
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1776G>C (p.Gly592=) rs1204342348
NM_000527.5(LDLR):c.1777G>T (p.Gly593Cys) rs544456198
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.1782C>G (p.Asn594Lys) rs763027570
NM_000527.5(LDLR):c.1783C>A (p.Arg595=)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) rs879255020
NM_000527.5(LDLR):c.1786A>G (p.Lys596Glu) rs879255021
NM_000527.5(LDLR):c.1794_1797del (p.Ile598fs)
NM_000527.5(LDLR):c.1795T>C (p.Leu599=) rs1472402792
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.17G>A (p.Trp6Ter) rs2077057318
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly) rs879255027
NM_000527.5(LDLR):c.1802A>T (p.Asp601Val) rs879255027
NM_000527.5(LDLR):c.1803T>C (p.Asp601=) rs2147257837
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg) rs1302327551
NM_000527.5(LDLR):c.1809G>A (p.Lys603=)
NM_000527.5(LDLR):c.1811delinsCT (p.Arg604fs) rs1555806529
NM_000527.5(LDLR):c.1812G>A (p.Arg604=)
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1818C>G (p.Ala606=) rs2147257930
NM_000527.5(LDLR):c.1819C>T (p.His607Tyr) rs1555806536
NM_000527.5(LDLR):c.181G>A (p.Glu61Lys) rs2077195468
NM_000527.5(LDLR):c.1821C>T (p.His607=)
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu) rs879255035
NM_000527.5(LDLR):c.1824C>A (p.Pro608=)
NM_000527.5(LDLR):c.1824del (p.Phe609fs) rs2147257944
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro) rs2077475503
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.5(LDLR):c.1829_1831del (p.Ser610del) rs879255037
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.1837_1840del (p.Val613fs)
NM_000527.5(LDLR):c.183G>A (p.Glu61=) rs2147210752
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.5(LDLR):c.1845+11C>G rs370245937
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+1G>A rs879255049
NM_000527.5(LDLR):c.1845+1G>C
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.1845+5G>C rs2077476213
NM_000527.5(LDLR):c.1845+6G>A rs2077476248
NM_000527.5(LDLR):c.1845+6G>T
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.1846-1G>T
NM_000527.5(LDLR):c.1846-1_1847dup rs2147264768
NM_000527.5(LDLR):c.1846-20C>A
NM_000527.5(LDLR):c.1846-4_1850del
NM_000527.5(LDLR):c.1846-7T>C rs2147264763
NM_000527.5(LDLR):c.1846-8C>G rs1600742028
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.1851del (p.Val618fs) rs1568610747
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser) rs879255054
NM_000527.5(LDLR):c.1859G>A (p.Trp620Ter)
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg) rs879255058
NM_000527.5(LDLR):c.1862C>T (p.Thr621Ile) rs879255058
NM_000527.5(LDLR):c.1863A>G (p.Thr621=) rs768509914
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) rs879255059
NM_000527.5(LDLR):c.1864G>C (p.Asp622His)
NM_000527.5(LDLR):c.1867A>T (p.Ile623Phe)
NM_000527.5(LDLR):c.1867dup (p.Ile623fs) rs1555807206
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1869C>A (p.Ile623=) rs765202964
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.1880C>G (p.Ala627Gly) rs875989934
NM_000527.5(LDLR):c.1880C>T (p.Ala627Val) rs875989934
NM_000527.5(LDLR):c.1881C>T (p.Ala627=) rs2147264976
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr) rs879255067
NM_000527.5(LDLR):c.1885_1889delinsGATCATCAACC (p.Phe629_Ser630delinsAspHisGlnPro)
NM_000527.5(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.5(LDLR):c.1888A>G (p.Ser630Gly) rs2077524048
NM_000527.5(LDLR):c.1889G>C (p.Ser630Thr) rs2077524086
NM_000527.5(LDLR):c.1890T>G (p.Ser630Arg) rs1292632022
NM_000527.5(LDLR):c.1891_2311+1065del
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu) rs754536745
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+1G>A rs879254428
NM_000527.5(LDLR):c.190+20G>T
NM_000527.5(LDLR):c.190+2_190+3del
NM_000527.5(LDLR):c.190+4_190+7del rs2147210820
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.1904_1905del (p.Thr635fs) rs2077524382
NM_000527.5(LDLR):c.1909T>A (p.Ser637Thr)
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.191-1G>A rs879254433
NM_000527.5(LDLR):c.191-1G>T rs879254433
NM_000527.5(LDLR):c.191-20C>T
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.191-3T>G rs2077229353
NM_000527.5(LDLR):c.191-5T>C rs770931363
NM_000527.5(LDLR):c.191-732_740del
NM_000527.5(LDLR):c.1911C>A (p.Ser637=)
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.1914T>C (p.Asp638=)
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.191T>A (p.Leu64Ter) rs774016801
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.1928C>T (p.Ala643Val) rs879255075
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.1942T>C (p.Ser648Pro) rs879255079
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser) rs879255080
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1948G>A (p.Glu650Lys) rs768724935
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.1953_1965del (p.Met652fs)
NM_000527.5(LDLR):c.1954A>T (p.Met652Leu) rs730882111
NM_000527.5(LDLR):c.1954_1955del (p.Met652fs) rs875989935
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.5(LDLR):c.1958_1959delinsCC (p.Val653Ala) rs2077526251
NM_000527.5(LDLR):c.195T>C (p.Ser65=)
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs) rs879254435
NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro) rs2077526349
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.1963T>C (p.Phe655Leu)
NM_000527.5(LDLR):c.1964del (p.Phe655fs) rs879255089
NM_000527.5(LDLR):c.196_197del (p.Val66fs) rs875989889
NM_000527.5(LDLR):c.1970A>G (p.Asn657Ser)
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg) rs879255095
NM_000527.5(LDLR):c.1980G>A (p.Gln660=)
NM_000527.5(LDLR):c.1981C>G (p.Pro661Ala) rs1182317785
NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys) rs1568611349
NM_000527.5(LDLR):c.1987+14A>C
NM_000527.5(LDLR):c.1987+19C>T
NM_000527.5(LDLR):c.1987+20A>G
NM_000527.5(LDLR):c.1987+2T>A rs1600742966
NM_000527.5(LDLR):c.1987+2T>G rs1600742966
NM_000527.5(LDLR):c.1987+5G>A rs2077527479
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.1987G>A (p.Gly663Arg) rs878951797
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.1988-1G>A rs1555807335
NM_000527.5(LDLR):c.1988-3dup
NM_000527.5(LDLR):c.1988-5C>T rs375877599
NM_000527.5(LDLR):c.1990G>A (p.Val664Met) rs879255103
NM_000527.5(LDLR):c.1993A>T (p.Asn665Tyr) rs2077529922
NM_000527.5(LDLR):c.1995C>T (p.Asn665=) rs2077529992
NM_000527.5(LDLR):c.1997G>A (p.Trp666Ter)
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter) rs752935814
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.1999T>G (p.Cys667Gly)
NM_000527.5(LDLR):c.1A>G (p.Met1Val) rs879254382
NM_000527.5(LDLR):c.1A>T (p.Met1Leu) rs879254382
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer) rs1600743301
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.2009C>T (p.Thr670Ile)
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.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.2026G>C (p.Gly676Arg) rs745753810
NM_000527.5(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
NM_000527.5(LDLR):c.202T>G (p.Cys68Gly) rs1057519652
NM_000527.5(LDLR):c.2030G>A (p.Cys677Tyr) rs875989938
NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe) rs875989938
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2039T>C (p.Leu680Pro) rs1555807379
NM_000527.5(LDLR):c.203G>T (p.Cys68Phe) rs2077229853
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2045T>C (p.Leu682Pro) rs879255119
NM_000527.5(LDLR):c.2045T>G (p.Leu682Arg) rs879255119
NM_000527.5(LDLR):c.2046C>T (p.Leu682=)
NM_000527.5(LDLR):c.2048C>T (p.Pro683Leu) rs766765648
NM_000527.5(LDLR):c.2049T>G (p.Pro683=)
NM_000527.5(LDLR):c.204C>A (p.Cys68Ter) rs879254437
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.2054C>G (p.Pro685Arg)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs) rs2077532372
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.5(LDLR):c.2059A>T (p.Ile687Phe) rs1060499932
NM_000527.5(LDLR):c.2061C>T (p.Ile687=)
NM_000527.5(LDLR):c.2068C>T (p.His690Tyr)
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.2077A>C (p.Lys693Gln)
NM_000527.5(LDLR):c.2079G>A (p.Lys693=) rs551528700
NM_000527.5(LDLR):c.2083A>C (p.Thr695Pro) rs1600744007
NM_000527.5(LDLR):c.2083A>G (p.Thr695Ala) rs1600744007
NM_000527.5(LDLR):c.2085C>T (p.Thr695=)
NM_000527.5(LDLR):c.2087G>T (p.Cys696Phe) rs879255134
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr) rs776217028
NM_000527.5(LDLR):c.2091C>T (p.Ala697=)
NM_000527.5(LDLR):c.2092T>C (p.Cys698Arg)
NM_000527.5(LDLR):c.2092del (p.Cys698fs) rs879255135
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
NM_000527.5(LDLR):c.2093G>C (p.Cys698Ser) rs879255136
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.5(LDLR):c.2094C>A (p.Cys698Ter)
NM_000527.5(LDLR):c.2095C>T (p.Pro699Ser)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2096del (p.Pro699fs) rs879255138
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.5(LDLR):c.2103C>T (p.Gly701=) rs2147266491
NM_000527.5(LDLR):c.2106G>C (p.Met702Ile)
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs) rs879255141
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.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2113del (p.Ala705fs) rs2077534881
NM_000527.5(LDLR):c.2114C>T (p.Ala705Val)
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.2121_2128dup (p.Ser710delinsThrTer)
NM_000527.5(LDLR):c.2123T>C (p.Met708Thr) rs373839317
NM_000527.5(LDLR):c.2124GAG[1] (p.Arg709del) rs2077535269
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly) rs1057519684
NM_000527.5(LDLR):c.2127G>A (p.Arg709=)
NM_000527.5(LDLR):c.2127_2128delinsCT (p.Arg709_Ser710delinsSerCys) rs2147266595
NM_000527.5(LDLR):c.2128_2131dup (p.Cys711Ter) rs2147266606
NM_000527.5(LDLR):c.2131T>C (p.Cys711Arg) rs879255144
NM_000527.5(LDLR):c.2138C>G (p.Thr713Arg) rs1218776502
NM_000527.5(LDLR):c.2138C>T (p.Thr713Ile)
NM_000527.5(LDLR):c.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+1G>A rs145787161
NM_000527.5(LDLR):c.2140+1G>T rs145787161
NM_000527.5(LDLR):c.2140+20T>G
NM_000527.5(LDLR):c.2140+5G>A
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.2141-1G>C
NM_000527.5(LDLR):c.2141-7C>A rs2147272729
NM_000527.5(LDLR):c.2141-9T>C rs2147272719
NM_000527.5(LDLR):c.2141A>C (p.Glu714Ala)
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.5(LDLR):c.2147A>C (p.Glu716Ala) rs2147272755
NM_000527.5(LDLR):c.2148G>A (p.Glu716=) rs2077583057
NM_000527.5(LDLR):c.214del (p.Asp72fs) rs879254438
NM_000527.5(LDLR):c.2154A>G (p.Ala718=) rs780348211
NM_000527.5(LDLR):c.2161A>G (p.Thr721Ala) rs2077583367
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile) rs879255154
NM_000527.5(LDLR):c.2172A>T (p.Thr724=) rs2147272846
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
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.2180T>A (p.Val727Asp) rs1568614490
NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs) rs1555808044
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs) rs879255159
NM_000527.5(LDLR):c.2190G>T (p.Lys730Asn)
NM_000527.5(LDLR):c.2191_2195dup (p.Ser732fs) rs2147272924
NM_000527.5(LDLR):c.2193dup (p.Ser732fs) rs2147272964
NM_000527.5(LDLR):c.2194_2198dup (p.Thr734fs) rs2147272953
NM_000527.5(LDLR):c.2205C>T (p.Ala735=) rs763213863
NM_000527.5(LDLR):c.2207T>G (p.Val736Gly)
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.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2220C>T (p.His740=)
NM_000527.5(LDLR):c.2224A>G (p.Thr742Ala) rs1568614637
NM_000527.5(LDLR):c.2227A>G (p.Thr743Ala) rs2147273100
NM_000527.5(LDLR):c.2228C>T (p.Thr743Ile)
NM_000527.5(LDLR):c.2230dup (p.Arg744fs)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_000527.5(LDLR):c.2232_2290del (p.Pro745fs) rs2147273159
NM_000527.5(LDLR):c.2234C>T (p.Pro745Leu)
NM_000527.5(LDLR):c.2239C>T (p.Pro747Ser) rs1484331319
NM_000527.5(LDLR):c.223T>G (p.Cys75Gly)
NM_000527.5(LDLR):c.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.2264_2273del (p.Ala755fs) rs879255168
NM_000527.5(LDLR):c.2268C>T (p.Thr756=) rs2077586867
NM_000527.5(LDLR):c.2269C>G (p.Pro757Ala) rs1568614801
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2270del (p.Pro757fs) rs1131692223
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
NM_000527.5(LDLR):c.2273G>A (p.Gly758Glu) rs748540948
NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala) rs748540948
NM_000527.5(LDLR):c.2273G>T (p.Gly758Val)
NM_000527.5(LDLR):c.2274G>A (p.Gly758=) rs2147273345
NM_000527.5(LDLR):c.2274del (p.Leu759fs) rs1555808139
NM_000527.5(LDLR):c.227_233del (p.Gly76fs) rs2147216927
NM_000527.5(LDLR):c.2282_2309dup (p.Gln770fs) rs1555808143
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.2291T>G (p.Ile764Arg) rs759440817
NM_000527.5(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs) rs1057519687
NM_000527.5(LDLR):c.2298A>G (p.Thr766=)
NM_000527.5(LDLR):c.2305C>T (p.His769Tyr)
NM_000527.5(LDLR):c.2307C>T (p.His769=) rs760479588
NM_000527.5(LDLR):c.2308C>G (p.Gln770Glu) rs763625913
NM_000527.5(LDLR):c.230del (p.Gly77fs) rs879254440
NM_000527.5(LDLR):c.2311+12G>C
NM_000527.5(LDLR):c.2311+1G>A rs879255175
NM_000527.5(LDLR):c.2311+1G>T
NM_000527.5(LDLR):c.2311+7A>G
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2312-14C>A
NM_000527.5(LDLR):c.2312-15G>T
NM_000527.5(LDLR):c.2312-1G>A rs753047625
NM_000527.5(LDLR):c.2312-1G>T
NM_000527.5(LDLR):c.2312-3C>A
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.2315T>C (p.Leu772Pro) rs754328605
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.2320G>T (p.Asp774Tyr) rs138190838
NM_000527.5(LDLR):c.2326G>C (p.Ala776Pro)
NM_000527.5(LDLR):c.2330G>T (p.Gly777Val)
NM_000527.5(LDLR):c.2334A>G (p.Arg778=)
NM_000527.5(LDLR):c.233del (p.Arg78fs) rs1057516129
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.2350C>T (p.Pro784Ser) rs2077661446
NM_000527.5(LDLR):c.2356A>T (p.Ser786Cys) rs730882114
NM_000527.5(LDLR):c.2365G>T (p.Ala789Ser)
NM_000527.5(LDLR):c.2366C>G (p.Ala789Gly) rs1286799492
NM_000527.5(LDLR):c.236T>A (p.Val79Asp)
NM_000527.5(LDLR):c.2370G>C (p.Leu790=)
NM_000527.5(LDLR):c.2370_2389+20del rs1600762098
NM_000527.5(LDLR):c.2374A>G (p.Ile792Val)
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.2381T>A (p.Leu794His)
NM_000527.5(LDLR):c.2384_2389+2del
NM_000527.5(LDLR):c.2386A>G (p.Ile796Val)
NM_000527.5(LDLR):c.2389+11G>A
NM_000527.5(LDLR):c.2389+14G>A
NM_000527.5(LDLR):c.2389+15G>C
NM_000527.5(LDLR):c.2389+19C>T
NM_000527.5(LDLR):c.2389+1G>A rs879255186
NM_000527.5(LDLR):c.2389+1G>T rs879255186
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+4A>G rs758493597
NM_000527.5(LDLR):c.2389+5G>C rs879255191
NM_000527.5(LDLR):c.2389+5G>T rs879255191
NM_000527.5(LDLR):c.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.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>C (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
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.2390-1G>A rs879255193
NM_000527.5(LDLR):c.2390-20G>A
NM_000527.5(LDLR):c.2390-2A>G rs767790696
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.2395dup (p.Leu799fs)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2403C>T (p.Phe801=) rs2147286811
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.5(LDLR):c.2408G>C (p.Cys803Ser)
NM_000527.5(LDLR):c.2408_2425dup (p.Leu808_Leu809insArgLeuGlyValPheLeu)
NM_000527.5(LDLR):c.2409C>T (p.Cys803=) rs2077686463
NM_000527.5(LDLR):c.2410C>T (p.Leu804=)
NM_000527.5(LDLR):c.2412G>A (p.Leu804=) rs2077686564
NM_000527.5(LDLR):c.2413G>C (p.Gly805Arg) rs879255204
NM_000527.5(LDLR):c.2414G>A (p.Gly805Glu) rs2147286859
NM_000527.5(LDLR):c.2416del (p.Val806fs) rs773618064
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2425C>T (p.Leu809=) rs2147286940
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.5(LDLR):c.2430G>C (p.Trp810Cys)
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
NM_000527.5(LDLR):c.2432A>G (p.Lys811Arg)
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter) rs879255212
NM_000527.5(LDLR):c.2440C>A (p.Arg814=) rs746616623
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2442del (p.Lys816fs) rs2147287002
NM_000527.5(LDLR):c.2444T>A (p.Leu815His) rs2077687532
NM_000527.5(LDLR):c.2449_2453del (p.Asn817fs) rs2147287052
NM_000527.5(LDLR):c.244T>G (p.Cys82Gly) rs879254447
NM_000527.5(LDLR):c.244_246del (p.Cys82del) rs1568591929
NM_000527.5(LDLR):c.2452A>G (p.Ile818Val) rs2147287069
NM_000527.5(LDLR):c.2459_2460insTGATGAGGATGGACAGAGAAGGTCTCTGATAAGATTTGTTTCTTTTGCCTCTCCCCTCTCCCCTCTCCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACATCAACAG (p.Ser820_Ile821insAspGluAspGlyGlnArgArgSerLeuIleArgPheValSerPheAlaSerProLeuSerProLeuProXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysLysLysAsnIleAsnSer)
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe) rs879254448
NM_000527.5(LDLR):c.2462_2463insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile821_Asn822insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) rs2147287035
NM_000527.5(LDLR):c.2466C>T (p.Asn822=)
NM_000527.5(LDLR):c.2469_2470insTTTTTTTTTTTTTTTTTNNNNNNNNNNTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCGGCCAACAGCATCAACTTT (p.Asp824delinsPhePhePhePhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer) rs2147287083
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.5(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.2480T>A (p.Val827Asp) rs2077688361
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.2485C>T (p.Gln829Ter) rs2077688650
NM_000527.5(LDLR):c.2488A>T (p.Lys830Ter) rs2147287222
NM_000527.5(LDLR):c.248T>C (p.Ile83Thr) rs1555802745
NM_000527.5(LDLR):c.2490G>A (p.Lys830=)
NM_000527.5(LDLR):c.2496A>G (p.Thr832=) rs1600765476
NM_000527.5(LDLR):c.2497G>A (p.Glu833Lys) rs1568619741
NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs) rs1600704961
NM_000527.5(LDLR):c.2500del (p.Asp834fs) rs1555809594
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
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.251C>G (p.Pro84Arg) rs875989892
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.5(LDLR):c.2520C>T (p.His840=) rs2077689495
NM_000527.5(LDLR):c.2530_2542del (p.Gly844fs) rs2147287353
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp) rs121908037
NM_000527.5(LDLR):c.2534A>G (p.Tyr845Cys) rs1568619827
NM_000527.5(LDLR):c.2536_2538del (p.Ser846del)
NM_000527.5(LDLR):c.2540A>C (p.Tyr847Ser) rs2077690044
NM_000527.5(LDLR):c.2541C>T (p.Tyr847=) rs757997480
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
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+1G>A rs879255224
NM_000527.5(LDLR):c.2547+5G>A rs879255226
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.2547G>A (p.Ser849=) rs1249903899
NM_000527.5(LDLR):c.2548-19G>A
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.2549_2550del rs1555809910
NM_000527.5(LDLR):c.2551_2554del (p.Gln851fs) rs878854029
NM_000527.5(LDLR):c.2557G>C (p.Val853Leu)
NM_000527.5(LDLR):c.255G>A (p.Gln85=) rs879254450
NM_000527.5(LDLR):c.255_313+198del
NM_000527.5(LDLR):c.2561G>A (p.Ser854Asn) rs2077714879
NM_000527.5(LDLR):c.2561G>C (p.Ser854Thr) rs2077714879
NM_000527.5(LDLR):c.2563C>A (p.Leu855Met) rs775803775
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
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.261_262delinsAG (p.Trp87_Arg88delinsTer) rs879254453
NM_000527.5(LDLR):c.264G>A (p.Arg88=)
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr) rs875989894
NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr) rs749038326
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.5(LDLR):c.270T>C (p.Asp90=) rs372828849
NM_000527.5(LDLR):c.273C>T (p.Gly91=)
NM_000527.5(LDLR):c.274C>T (p.Gln92Ter) rs774467219
NM_000527.5(LDLR):c.274del (p.Gln92fs) rs2077232183
NM_000527.5(LDLR):c.276del (p.Val93fs)
NM_000527.5(LDLR):c.279G>A (p.Val93=)
NM_000527.5(LDLR):c.27C>T (p.Arg9=) rs2077057436
NM_000527.5(LDLR):c.280G>T (p.Asp94Tyr) rs745776977
NM_000527.5(LDLR):c.281A>T (p.Asp94Val)
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.5(LDLR):c.288C>T (p.Asp96=)
NM_000527.5(LDLR):c.293G>C (p.Gly98Ala) rs2077232672
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.303G>A (p.Glu101=) rs1600705245
NM_000527.5(LDLR):c.303del (p.Glu101fs) rs764797225
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.5(LDLR):c.30G>A (p.Trp10Ter) rs1568582652
NM_000527.5(LDLR):c.310T>C (p.Cys104Arg) rs879254464
NM_000527.5(LDLR):c.310T>G (p.Cys104Gly) rs879254464
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.5(LDLR):c.311_313+18del rs2147217467
NM_000527.5(LDLR):c.313+15G>A
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+1_313+2dup rs2077233623
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.313+3_313+6del rs2147217534
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.313+5G>C rs879254467
NM_000527.5(LDLR):c.313+5G>T rs879254467
NM_000527.5(LDLR):c.313+6T>G rs879254468
NM_000527.5(LDLR):c.313+8T>A rs2077233874
NM_000527.5(LDLR):c.313+8T>C
NM_000527.5(LDLR):c.313_313+1del rs875989896
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.314-1G>A rs879254471
NM_000527.5(LDLR):c.314-2A>G
NM_000527.5(LDLR):c.314-3C>A
NM_000527.5(LDLR):c.314-4G>T
NM_000527.5(LDLR):c.314-5T>C rs757545965
NM_000527.5(LDLR):c.314-6C>G rs2147223016
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.317C>G (p.Pro106Arg) rs1365623011
NM_000527.5(LDLR):c.318C>G (p.Pro106=) rs1218762668
NM_000527.5(LDLR):c.318del (p.Lys107fs) rs875989898
NM_000527.5(LDLR):c.31A>T (p.Thr11Ser) rs1600683674
NM_000527.5(LDLR):c.323C>A (p.Thr108Lys) rs750126678
NM_000527.5(LDLR):c.324G>A (p.Thr108=) rs146517429
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.327C>A (p.Cys109Ter) rs1057519654
NM_000527.5(LDLR):c.331C>T (p.Gln111Ter) rs2147223179
NM_000527.5(LDLR):c.336C>T (p.Asp112=) rs747806084
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.337dup (p.Glu113fs) rs752191968
NM_000527.5(LDLR):c.33C>G (p.Thr11=)
NM_000527.5(LDLR):c.33C>T (p.Thr11=) rs748734643
NM_000527.5(LDLR):c.340_344del (p.Phe114fs) rs1057516132
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg) rs879254482
NM_000527.5(LDLR):c.348C>T (p.Cys116=)
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn) rs730882080
NM_000527.5(LDLR):c.353del (p.Asp118fs) rs879254488
NM_000527.5(LDLR):c.354T>C (p.Asp118=) rs2077267881
NM_000527.5(LDLR):c.355G>A (p.Gly119Arg) rs869320648
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr) rs193922571
NM_000527.5(LDLR):c.363C>T (p.Cys121=) rs1555803191
NM_000527.5(LDLR):c.364A>C (p.Ile122Leu)
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495
NM_000527.5(LDLR):c.368C>G (p.Ser123Cys) rs2077268470
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp) rs879254498
NM_000527.5(LDLR):c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal) rs2077268697
NM_000527.5(LDLR):c.371G>C (p.Arg124Pro) rs929536329
NM_000527.5(LDLR):c.373_383delinsAAGTGCA (p.Gln125fs)
NM_000527.5(LDLR):c.375G>A (p.Gln125=) rs2147223505
NM_000527.5(LDLR):c.378del (p.Phe126fs) rs1555803213
NM_000527.5(LDLR):c.379del (p.Val127fs) rs878854028
NM_000527.5(LDLR):c.380T>C (p.Val127Ala)
NM_000527.5(LDLR):c.385G>A (p.Asp129Asn) rs2077269298
NM_000527.5(LDLR):c.386A>C (p.Asp129Ala)
NM_000527.5(LDLR):c.387C>G (p.Asp129Glu)
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr) rs879254508
NM_000527.5(LDLR):c.394C>A (p.Arg132=)
NM_000527.5(LDLR):c.394C>G (p.Arg132Gly) rs368978979
NM_000527.5(LDLR):c.394C>T (p.Arg132Trp) rs368978979
NM_000527.5(LDLR):c.396G>A (p.Arg132=) rs2077269758
NM_000527.5(LDLR):c.397G>A (p.Asp133Asn) rs879254513
NM_000527.5(LDLR):c.399C>T (p.Asp133=) rs2077269856
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr) rs879254514
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe) rs879254514
NM_000527.5(LDLR):c.402C>T (p.Cys134=) rs879254515
NM_000527.5(LDLR):c.403T>C (p.Leu135=)
NM_000527.5(LDLR):c.406G>A (p.Asp136Asn) rs2077270167
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.41T>A (p.Leu14Ter) rs1600683731
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.420G>T (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.425C>T (p.Ser142Phe)
NM_000527.5(LDLR):c.427T>A (p.Cys143Ser) rs875989901
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.427T>G (p.Cys143Gly) rs875989901
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.431C>G (p.Pro144Arg)
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu) rs912448894
NM_000527.5(LDLR):c.432G>C (p.Pro144=) rs769228052
NM_000527.5(LDLR):c.438C>T (p.Leu146=)
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.441C>T (p.Thr147=) rs2147223916
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.449C>A (p.Pro150His)
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.44T>G (p.Leu15Arg) rs879254390
NM_000527.5(LDLR):c.451G>T (p.Ala151Ser)
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.462G>A (p.Gln154=) rs2077272207
NM_000527.5(LDLR):c.462G>C (p.Gln154His) rs2077272207
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr) rs879254536
NM_000527.5(LDLR):c.466_471del (p.Asn156_Ser157del)
NM_000527.5(LDLR):c.467del (p.Asn156fs) rs1057516135
NM_000527.5(LDLR):c.469_470dup (p.Ser157fs) rs2077272442
NM_000527.5(LDLR):c.46C>G (p.Leu16Val) rs2077058105
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.480_492del (p.Ile161fs)
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn) rs754933794
NM_000527.5(LDLR):c.483C>A (p.Ile161=) rs942136566
NM_000527.5(LDLR):c.483C>T (p.Ile161=)
NM_000527.5(LDLR):c.485C>T (p.Pro162Leu) rs879254543
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro) rs879254544
NM_000527.5(LDLR):c.494G>T (p.Trp165Leu)
NM_000527.5(LDLR):c.496G>A (p.Ala166Thr) rs2077273342
NM_000527.5(LDLR):c.497C>A (p.Ala166Asp)
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg) rs879254547
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr) rs879254548
NM_000527.5(LDLR):c.500G>C (p.Cys167Ser) rs879254548
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.5(LDLR):c.502G>T (p.Asp168Tyr) rs200727689
NM_000527.5(LDLR):c.503A>G (p.Asp168Gly) rs879254549
NM_000527.5(LDLR):c.504C>T (p.Asp168=) rs777321035
NM_000527.5(LDLR):c.505_511del (p.Asn169fs) rs1568594903
NM_000527.5(LDLR):c.509A>G (p.Asp170Gly)
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.5(LDLR):c.511C>A (p.Pro171Thr)
NM_000527.5(LDLR):c.513C>A (p.Pro171=)
NM_000527.5(LDLR):c.513del (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.513dup (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.514G>C (p.Asp172His) rs879254554
NM_000527.5(LDLR):c.514G>T (p.Asp172Tyr) rs879254554
NM_000527.5(LDLR):c.515_516delinsTT (p.Asp172Val)
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
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.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.536A>C (p.Glu179Ala)
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter) rs879254569
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.543G>T (p.Pro181=) rs766577671
NM_000527.5(LDLR):c.547C>A (p.Arg183Ser) rs757292254
NM_000527.5(LDLR):c.547C>T (p.Arg183Cys) rs757292254
NM_000527.5(LDLR):c.54G>C (p.Ala18=) rs2077058406
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.552T>C (p.Cys184=)
NM_000527.5(LDLR):c.553A>T (p.Arg185Trp) rs2147224605
NM_000527.5(LDLR):c.555G>A (p.Arg185=) rs1277068624
NM_000527.5(LDLR):c.557del (p.Gly186fs) rs879254573
NM_000527.5(LDLR):c.558T>C (p.Gly186=)
NM_000527.5(LDLR):c.560_570del (p.Leu187fs) rs2077275747
NM_000527.5(LDLR):c.562T>G (p.Tyr188Asp)
NM_000527.5(LDLR):c.562del (p.Tyr188fs) rs879254575
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
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.568_590del (p.Phe190fs) rs879254577
NM_000527.5(LDLR):c.56C>G (p.Ala19Gly) rs879254392
NM_000527.5(LDLR):c.56C>T (p.Ala19Val) rs879254392
NM_000527.5(LDLR):c.570C>T (p.Phe190=) rs146332179
NM_000527.5(LDLR):c.574G>C (p.Gly192Arg) rs2077276377
NM_000527.5(LDLR):c.577dup (p.Asp193fs) rs2077276411
NM_000527.5(LDLR):c.579del (p.Asp193fs) rs2077276612
NM_000527.5(LDLR):c.585C>A (p.Ser195Arg) rs756880555
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.5(LDLR):c.593C>T (p.Ser198Leu) rs748672083
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.599T>G (p.Phe200Cys) rs879254586
NM_000527.5(LDLR):c.59G>A (p.Gly20Glu) rs1568582750
NM_000527.5(LDLR):c.600C>T (p.Phe200=)
NM_000527.5(LDLR):c.600dup (p.Glu201fs)
NM_000527.5(LDLR):c.601G>C (p.Glu201Gln)
NM_000527.5(LDLR):c.602A>C (p.Glu201Ala)
NM_000527.5(LDLR):c.603G>A (p.Glu201=)
NM_000527.5(LDLR):c.605T>G (p.Phe202Cys) rs879254590
NM_000527.5(LDLR):c.610T>C (p.Cys204Arg) rs1057519655
NM_000527.5(LDLR):c.611G>T (p.Cys204Phe) rs879254592
NM_000527.5(LDLR):c.613C>G (p.Leu205Val) rs1131692196
NM_000527.5(LDLR):c.620_626del (p.Gly207fs) rs2147225024
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.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.5(LDLR):c.627C>T (p.Cys209=) rs2147225118
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn) rs879254601
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.635C>T (p.Ser212Phe) rs1435097227
NM_000527.5(LDLR):c.636C>T (p.Ser212=) rs538030445
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.5(LDLR):c.639C>G (p.Ser213Arg) rs760616999
NM_000527.5(LDLR):c.63T>G (p.Thr21=)
NM_000527.5(LDLR):c.640T>C (p.Trp214Arg) rs1600711159
NM_000527.5(LDLR):c.645C>T (p.Arg215=)
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.650A>G (p.Asp217Gly) rs2077279531
NM_000527.5(LDLR):c.650A>T (p.Asp217Val) rs2077279531
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.651_687del (p.Asp217fs) rs879254615
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.657C>G (p.Gly219=)
NM_000527.5(LDLR):c.657C>T (p.Gly219=) rs1031127300
NM_000527.5(LDLR):c.658C>T (p.Pro220Ser) rs2077280086
NM_000527.5(LDLR):c.658_659delinsTGTGATGG (p.Pro220delinsCysAspGly)
NM_000527.5(LDLR):c.658_663del (p.Pro220_Asp221del) rs1555803409
NM_000527.5(LDLR):c.660del (p.Asp221fs) rs875989905
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.661_677del (p.Pro220_Asp221insTer) rs879254619
NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs) rs2077280444
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.663C>G (p.Asp221Glu) rs2077280675
NM_000527.5(LDLR):c.663C>T (p.Asp221=)
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.5(LDLR):c.664_672del (p.Cys222_Asp224del)
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.5(LDLR):c.665_673dup (p.Asp224_Lys225insSerLysAsp) rs2147225506
NM_000527.5(LDLR):c.666C>A (p.Cys222Ter) rs756613387
NM_000527.5(LDLR):c.666C>T (p.Cys222=) rs756613387
NM_000527.5(LDLR):c.667_677del (p.Cys222_Lys223insTer)
NM_000527.5(LDLR):c.669G>A (p.Lys223=)
NM_000527.5(LDLR):c.669G>C (p.Lys223Asn) rs879254627
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer) rs879254626
NM_000527.5(LDLR):c.67+18C>T
NM_000527.5(LDLR):c.67+1G>A
NM_000527.5(LDLR):c.67+1dup rs2147186763
NM_000527.5(LDLR):c.67+20C>G
NM_000527.5(LDLR):c.67+5G>T rs372349543
NM_000527.5(LDLR):c.67+6G>A rs1369961980
NM_000527.5(LDLR):c.67+6G>T
NM_000527.5(LDLR):c.67+833T>C rs57217136
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.670_672del (p.Asp224del)
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) rs879254630
NM_000527.5(LDLR):c.672C>G (p.Asp224Glu) rs1057519658
NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del) rs1555803439
NM_000527.5(LDLR):c.673_675inv (p.Lys225Phe)
NM_000527.5(LDLR):c.673_682delinsTGCA (p.Lys225_Glu228delinsCysLys)
NM_000527.5(LDLR):c.676_677delinsAA (p.Ser226Asn) rs2147225692
NM_000527.5(LDLR):c.677C>T (p.Ser226Phe)
NM_000527.5(LDLR):c.677_681dup (p.Glu228fs) rs2077282376
NM_000527.5(LDLR):c.678_681dup (p.Glu228Ter) rs2077282376
NM_000527.5(LDLR):c.679G>A (p.Asp227Asn) rs2077282480
NM_000527.5(LDLR):c.679G>C (p.Asp227His) rs2077282480
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.68-1G>A rs879254397
NM_000527.5(LDLR):c.68-1G>C rs879254397
NM_000527.5(LDLR):c.68-4T>C rs2077192055
NM_000527.5(LDLR):c.68-8T>C rs2077191949
NM_000527.5(LDLR):c.680A>T (p.Asp227Val) rs879254638
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.680_682delinsCA (p.Asp227fs) rs879254637
NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs) rs879254637
NM_000527.5(LDLR):c.681C>A (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.682del (p.Glu228fs) rs879254640
NM_000527.5(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del) rs1064792905
NM_000527.5(LDLR):c.684G>A (p.Glu228=)
NM_000527.5(LDLR):c.684G>C (p.Glu228Asp) rs1208216597
NM_000527.5(LDLR):c.685G>T (p.Glu229Ter)
NM_000527.5(LDLR):c.689A>T (p.Asn230Ile) rs2077283326
NM_000527.5(LDLR):c.690C>T (p.Asn230=) rs879254643
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg) rs746091400
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.5(LDLR):c.692G>A (p.Cys231Tyr) rs879254644
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
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+1G>A rs879254646
NM_000527.5(LDLR):c.694+1G>C rs879254646
NM_000527.5(LDLR):c.694+24dup
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.694G>T (p.Ala232Ser) rs72658857
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.695-1G>A rs879254652
NM_000527.5(LDLR):c.695-1G>C
NM_000527.5(LDLR):c.695-1G>T rs879254652
NM_000527.5(LDLR):c.695-3C>T rs745897889
NM_000527.5(LDLR):c.695-5T>A
NM_000527.5(LDLR):c.695-9G>A rs1453690068
NM_000527.5(LDLR):c.699_708del (p.Thr235fs) rs2077297994
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.706T>A (p.Cys236Ser) rs879254655
NM_000527.5(LDLR):c.711C>A (p.Arg237=)
NM_000527.5(LDLR):c.712C>G (p.Pro238Ala) rs376963526
NM_000527.5(LDLR):c.715G>A (p.Asp239Asn)
NM_000527.5(LDLR):c.718G>T (p.Glu240Ter) rs768563000
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
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>A (p.His250Gln) rs141929940
NM_000527.5(LDLR):c.750T>C (p.His250=) rs141929940
NM_000527.5(LDLR):c.752G>A (p.Gly251Asp)
NM_000527.5(LDLR):c.752dup (p.Ser252fs) rs879254666
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.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.762G>A (p.Gln254=)
NM_000527.5(LDLR):c.768C>A (p.Asp256Glu) rs879254671
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.776A>C (p.Tyr259Ser) rs2077300176
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter) rs2147228929
NM_000527.5(LDLR):c.780C>A (p.Asp260Glu) rs2077300275
NM_000527.5(LDLR):c.780C>T (p.Asp260=)
NM_000527.5(LDLR):c.781T>A (p.Cys261Ser) rs1372739823
NM_000527.5(LDLR):c.781T>C (p.Cys261Arg) rs1372739823
NM_000527.5(LDLR):c.787G>T (p.Asp263Tyr)
NM_000527.5(LDLR):c.791del (p.Met264fs) rs2077300688
NM_000527.5(LDLR):c.792G>A (p.Met264Ile) rs1200173530
NM_000527.5(LDLR):c.796G>C (p.Asp266His)
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr) rs875989907
NM_000527.5(LDLR):c.797A>G (p.Asp266Gly) rs879254678
NM_000527.5(LDLR):c.798T>C (p.Asp266=) rs139043155
NM_000527.5(LDLR):c.79T>C (p.Cys27Arg) rs1555802245
NM_000527.5(LDLR):c.79_81delinsCGT (p.Cys27Arg) rs2077192500
NM_000527.5(LDLR):c.801A>T (p.Glu267Asp) rs879254681
NM_000527.5(LDLR):c.802G>A (p.Val268Ile)
NM_000527.5(LDLR):c.804T>C (p.Val268=)
NM_000527.5(LDLR):c.805_813del (p.Gly269_Val271del)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
NM_000527.5(LDLR):c.80G>A (p.Cys27Tyr)
NM_000527.5(LDLR):c.810C>A (p.Cys270Ter) rs773328511
NM_000527.5(LDLR):c.810C>G (p.Cys270Trp) rs773328511
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr) rs202213054
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+1G>A rs879254685
NM_000527.5(LDLR):c.817+6C>T
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.818-1G>A rs879254688
NM_000527.5(LDLR):c.818-20C>G
NM_000527.5(LDLR):c.818-2A>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.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.825C>G (p.Leu275=)
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.832G>T (p.Gly278Ter) rs1600715039
NM_000527.5(LDLR):c.845T>C (p.Phe282Ser) rs2077311848
NM_000527.5(LDLR):c.848A>C (p.Lys283Thr)
NM_000527.5(LDLR):c.851G>T (p.Cys284Phe) rs879254694
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
NM_000527.5(LDLR):c.854A>G (p.His285Arg) rs1555803855
NM_000527.5(LDLR):c.856A>G (p.Ser286Gly)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.5(LDLR):c.867C>A (p.Cys289Ter)
NM_000527.5(LDLR):c.867C>T (p.Cys289=)
NM_000527.5(LDLR):c.86del (p.Arg29fs)
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
NM_000527.5(LDLR):c.873C>A (p.Thr291=)
NM_000527.5(LDLR):c.873C>T (p.Thr291=)
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) rs879254704
NM_000527.5(LDLR):c.883del (p.Val295fs) rs2077313046
NM_000527.5(LDLR):c.885C>T (p.Val295=)
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.887G>C (p.Cys296Ser) rs879254707
NM_000527.5(LDLR):c.887G>T (p.Cys296Phe) rs879254707
NM_000527.5(LDLR):c.888C>A (p.Cys296Ter) rs879254708
NM_000527.5(LDLR):c.888C>G (p.Cys296Trp)
NM_000527.5(LDLR):c.893T>C (p.Met298Thr)
NM_000527.5(LDLR):c.893dup (p.Met298fs)
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr) rs879254711
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.5(LDLR):c.897T>G (p.Ala299=) rs2147231171
NM_000527.5(LDLR):c.899G>A (p.Arg300Lys) rs2077313724
NM_000527.5(LDLR):c.900A>G (p.Arg300=)
NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr) rs879254713
NM_000527.5(LDLR):c.901_911del (p.Asp301fs) rs2077313770
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
NM_000527.5(LDLR):c.902A>T (p.Asp301Val)
NM_000527.5(LDLR):c.903C>T (p.Asp301=)
NM_000527.5(LDLR):c.904T>G (p.Cys302Gly) rs1555803891
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
NM_000527.5(LDLR):c.905del (p.Cys302fs) rs1057516130
NM_000527.5(LDLR):c.906C>A (p.Cys302Ter)
NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer) rs875989908
NM_000527.5(LDLR):c.90C>G (p.Asn30Lys) rs72658855
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.914G>A (p.Trp305Ter) rs879254717
NM_000527.5(LDLR):c.915G>T (p.Trp305Cys) rs757252110
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.919G>C (p.Asp307His) rs879254719
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter) rs776421777
NM_000527.5(LDLR):c.920A>C (p.Asp307Ala)
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly) rs1555803908
NM_000527.5(LDLR):c.922G>T (p.Glu308Ter) rs879254721
NM_000527.5(LDLR):c.924A>G (p.Glu308=) rs1057519664
NM_000527.5(LDLR):c.925_931del (p.Pro309fs) rs387906304
NM_000527.5(LDLR):c.928A>T (p.Ile310Phe)
NM_000527.5(LDLR):c.929T>A (p.Ile310Asn) rs879254722
NM_000527.5(LDLR):c.930C>T (p.Ile310=) rs2147231392
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.932_933del (p.Lys311fs) rs879254723
NM_000527.5(LDLR):c.933del (p.Glu312fs) rs879254723
NM_000527.5(LDLR):c.935A>G (p.Glu312Gly)
NM_000527.5(LDLR):c.936G>A (p.Glu312=) rs2077315472
NM_000527.5(LDLR):c.936G>T (p.Glu312Asp) rs2077315472
NM_000527.5(LDLR):c.937T>G (p.Cys313Gly) rs879254728
NM_000527.5(LDLR):c.937_938dup (p.Gly314fs)
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
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+3G>A rs1568598062
NM_000527.5(LDLR):c.940+3_940+6del rs2077315885
NM_000527.5(LDLR):c.940+6T>C
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.940_940+14del rs1057519665
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.941-1G>A rs879254735
NM_000527.5(LDLR):c.941-20C>T
NM_000527.5(LDLR):c.941-2A>C rs112366278
NM_000527.5(LDLR):c.941-2A>G rs112366278
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.941-7T>G
NM_000527.5(LDLR):c.941-8C>G rs2077359932
NM_000527.5(LDLR):c.944C>T (p.Thr315Ile) rs2077360211
NM_000527.5(LDLR):c.948C>G (p.Asn316Lys) rs780673258
NM_000527.5(LDLR):c.951A>G (p.Glu317=) rs1568600233
NM_000527.5(LDLR):c.951del (p.Glu317fs) rs879254737
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.955T>C (p.Leu319=)
NM_000527.5(LDLR):c.961_962del (p.Asn321fs) rs879254740
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.5(LDLR):c.966C>A (p.Asn322Lys) rs567080879
NM_000527.5(LDLR):c.966del (p.Asn322fs) rs2077361078
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.970G>T (p.Gly324Cys) rs72658860
NM_000527.5(LDLR):c.972C>T (p.Gly324=)
NM_000527.5(LDLR):c.973T>C (p.Cys325Arg) rs1568600328
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000527.5(LDLR):c.974G>T (p.Cys325Phe) rs879254746
NM_000527.5(LDLR):c.975T>C (p.Cys325=)
NM_000527.5(LDLR):c.975_986del (p.Ser326_Cys329del) rs2077361365
NM_000527.5(LDLR):c.976T>C (p.Ser326Pro) rs2077361498
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_000527.5(LDLR):c.978C>G (p.Ser326=) rs1268166199
NM_000527.5(LDLR):c.979del (p.His327fs) rs2077361581
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_000527.5(LDLR):c.97_115del (p.Gln33fs) rs2147210191
NM_000527.5(LDLR):c.980A>C (p.His327Pro) rs2077361686
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.988A>G (p.Asn330Asp) rs730882095
NM_000527.5(LDLR):c.990T>A (p.Asn330Lys) rs1568600400
NM_000527.5(LDLR):c.996_1009delinsGCA (p.Lys333fs) rs1568600415
NM_000527.5(LDLR):c.9C>T (p.Pro3=) rs2147186453
NR_163945.1(LDLR-AS1):n.247G>T rs879254374
NR_163945.1(LDLR-AS1):n.248G>A rs879254373
NR_163945.1(LDLR-AS1):n.298G>A rs2077054466
NR_163945.1(LDLR-AS1):n.308C>T rs2077054310
NR_163945.1(LDLR-AS1):n.318A>G
NR_163945.1(LDLR-AS1):n.326T>G
NR_163945.1(LDLR-AS1):n.328G>C rs17249141
NR_163945.1(LDLR-AS1):n.341del

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