ClinVar Miner

List of variants in gene LDLR reported by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 835
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HGVS dbSNP gnomAD frequency
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_000527.4(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.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.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.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.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.2389+8C>T rs747170426 0.00011
NM_000527.5(LDLR):c.1586+15C>T rs371716068 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.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.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.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.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.1988-13T>G rs200201131 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.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+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 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.1431C>T (p.Asp477=) rs368610522 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 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.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.450C>T (p.Pro150=) rs773365925 0.00003
NM_000527.5(LDLR):c.501C>T (p.Cys167=) rs752596535 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_000527.4(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.1066G>A (p.Asp356Asn) rs767767730 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.1335C>A (p.Asp445Glu) rs749780672 0.00002
NM_000527.5(LDLR):c.1401C>T (p.Thr467=) rs780942671 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.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) rs763147599 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.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.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.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.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.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.1008C>T (p.Tyr336=) rs767024374 0.00001
NM_000527.5(LDLR):c.1023C>T (p.Pro341=) rs376267007 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.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.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.1356C>T (p.Cys452=) rs137853961 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.1420C>G (p.Gln474Glu) rs201967266 0.00001
NM_000527.5(LDLR):c.1489A>G (p.Thr497Ala) rs879254920 0.00001
NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys) rs766929574 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.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.1587-10C>T rs375418317 0.00001
NM_000527.5(LDLR):c.1587-11C>T rs201957233 0.00001
NM_000527.5(LDLR):c.1632A>G (p.Lys544=) rs1291759570 0.00001
NM_000527.5(LDLR):c.1635G>A (p.Gly545=) rs767602284 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1662G>A (p.Ser554=) rs151047249 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 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.1817C>A (p.Ala606Asp) rs1410295777 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.1854A>G (p.Val618=) rs1248760084 0.00001
NM_000527.5(LDLR):c.1863A>T (p.Thr621=) rs768509914 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.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.1974C>T (p.Leu658=) rs546153613 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.2037T>C (p.Tyr679=) rs760436036 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.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.2167G>T (p.Glu723Ter) rs1057516127 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.2265C>T (p.Ala755=) rs762453962 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 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.2390-3C>T rs755033580 0.00001
NM_000527.5(LDLR):c.2391G>C (p.Val797=) rs752846235 0.00001
NM_000527.5(LDLR):c.239A>G (p.Asn80Ser) rs1173004910 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.2478C>T (p.Pro826=) rs774831273 0.00001
NM_000527.5(LDLR):c.2499G>T (p.Glu833Asp) rs752936229 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.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.369T>G (p.Ser123=) rs753900469 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.45C>T (p.Leu15=) rs778389514 0.00001
NM_000527.5(LDLR):c.480C>T (p.Cys160=) rs751314540 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 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.565G>C (p.Val189Leu) rs370820135 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.68-9C>G rs1284807471 0.00001
NM_000527.5(LDLR):c.688A>G (p.Asn230Asp) rs1266776177 0.00001
NM_000527.5(LDLR):c.694G>A (p.Ala232Thr) rs72658857 0.00001
NM_000527.5(LDLR):c.711C>T (p.Arg237=) rs780294768 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.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.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.818-15C>G rs79433354 0.00001
NM_000527.5(LDLR):c.820del (p.Thr274fs) rs751122998 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 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.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.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
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.-139C>T rs879254371
NM_000527.4(LDLR):c.-139_-130del rs2077055015
NM_000527.4(LDLR):c.-142C>G rs879254370
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.-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.313+1G>A
NM_000527.5(LDLR):c.*1A>G rs2077715480
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.-74del
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg) rs544453230
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
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.1012T>G (p.Cys338Gly) rs879254753
NM_000527.5(LDLR):c.1014C>T (p.Cys338=) rs879254755
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
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.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+10_1060+11delinsCA rs2077364942
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1067A>T (p.Asp356Val) rs879254777
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1083C>T (p.Pro361=) rs567564778
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.109G>A (p.Gly37Arg) rs2077193497
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1127A>T (p.Lys376Met) rs2077377185
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1145G>A (p.Gly382Asp) rs752951310
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.5(LDLR):c.1169A>G (p.Lys390Arg) rs2077378748
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1173C>T (p.Ala391=)
NM_000527.5(LDLR):c.1180G>T (p.Ala394Ser) rs2077379274
NM_000527.5(LDLR):c.1186+3G>A rs1568601796
NM_000527.5(LDLR):c.1186+6C>T
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1187G>C (p.Gly396Ala)
NM_000527.5(LDLR):c.1187G>T (p.Gly396Val) rs766474188
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.1194C>A (p.Ile398=) rs13306498
NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter) rs879254827
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1224G>A (p.Glu408=)
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.1242G>C (p.Leu414=)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
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.1264C>T (p.Leu422Phe) rs2077409172
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.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.1285G>A (p.Val429Met)
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.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.129G>A (p.Lys43=) rs1308223575
NM_000527.5(LDLR):c.1306G>A (p.Val436Met) rs2147247608
NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys) rs879254860
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.132G>C (p.Trp44Cys) rs1555802287
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.1358+2T>A rs193922567
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.1381G>A (p.Gly461Ser) rs193922568
NM_000527.5(LDLR):c.1392C>T (p.Ser464=) rs762817882
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn) rs2077416170
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1440T>G (p.Ala480=) rs2147248763
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.5(LDLR):c.144C>A (p.Gly48=) rs1250260327
NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn) rs879254910
NM_000527.5(LDLR):c.145A>C (p.Ser49Arg) rs2077194647
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1473C>G (p.Thr491=) rs558238642
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
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.1492G>C (p.Val498Leu)
NM_000527.5(LDLR):c.1503G>C (p.Ala501=) rs368889457
NM_000527.5(LDLR):c.150T>C (p.Ala50=) rs1456739064
NM_000527.5(LDLR):c.1516G>C (p.Val506Leu) rs373848925
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.1540G>A (p.Glu514Lys) rs1555805507
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg) rs879254938
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr) rs875989923
NM_000527.5(LDLR):c.1564A>G (p.Ile522Val) rs774337050
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu) rs763884010
NM_000527.5(LDLR):c.1579G>A (p.Val527Ile) rs758890891
NM_000527.5(LDLR):c.1583A>G (p.His528Arg) rs1489999751
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1587-1G>A rs879254948
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.5(LDLR):c.1603G>C (p.Asp535His)
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.1631A>C (p.Lys544Thr) rs2077459016
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.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala) rs28941776
NM_000527.5(LDLR):c.1649T>G (p.Val550Gly) rs2077459810
NM_000527.5(LDLR):c.1663C>A (p.Leu555Met) rs2077460352
NM_000527.5(LDLR):c.1670C>T (p.Thr557Ile)
NM_000527.5(LDLR):c.1683G>A (p.Gln561=) rs2077460841
NM_000527.5(LDLR):c.1689dup (p.Asn564fs) rs879254988
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1699A>G (p.Thr567Ala) rs1600733170
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
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.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter) rs875989928
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.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.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.1782C>G (p.Asn594Lys) rs763027570
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1786A>G (p.Lys596Glu) rs879255021
NM_000527.5(LDLR):c.1795T>C (p.Leu599=) rs1472402792
NM_000527.5(LDLR):c.1809G>A (p.Lys603=)
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
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.1823C>T (p.Pro608Leu) rs879255035
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.1845+1G>A rs879255049
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.1846-8C>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.1848C>T (p.Asp616=) rs2077522347
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
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.1863A>G (p.Thr621=) rs768509914
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
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.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.1897C>T (p.Arg633Cys)
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.191-3T>G rs2077229353
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
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.1939C>T (p.Leu647=) rs1600742572
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.5(LDLR):c.1948G>A (p.Glu650Lys) rs768724935
NM_000527.5(LDLR):c.1954A>T (p.Met652Leu) rs730882111
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1962C>G (p.Leu654=) rs2077526378
NM_000527.5(LDLR):c.196_197del (p.Val66fs) rs875989889
NM_000527.5(LDLR):c.1970A>G (p.Asn657Ser)
NM_000527.5(LDLR):c.1980G>A (p.Gln660=)
NM_000527.5(LDLR):c.1987+5G>A rs2077527479
NM_000527.5(LDLR):c.1987+6G>C rs752382813
NM_000527.5(LDLR):c.1988-13T>C rs200201131
NM_000527.5(LDLR):c.1988-5C>T rs375877599
NM_000527.5(LDLR):c.1995C>T (p.Asn665=) rs2077529992
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.2013C>T (p.Thr671=) rs550649956
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.202T>G (p.Cys68Gly) rs1057519652
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2052C>G (p.Ala684=) rs760034984
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2073G>A (p.Ser691=) rs146869252
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr) rs776217028
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2103C>T (p.Gly701=) rs2147266491
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.2138C>G (p.Thr713Arg) rs1218776502
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2141-10A>G rs2147272715
NM_000527.5(LDLR):c.2141-7C>A rs2147272729
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.2154A>G (p.Ala718=) rs780348211
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile) rs879255154
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.2190G>T (p.Lys730Asn)
NM_000527.5(LDLR):c.2205C>T (p.Ala735=) rs763213863
NM_000527.5(LDLR):c.2207T>G (p.Val736Gly)
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
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.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_000527.5(LDLR):c.2239C>T (p.Pro747Ser) rs1484331319
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.2247C>T (p.Thr749=) rs2077586087
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.2271del (p.Leu759fs)
NM_000527.5(LDLR):c.2273G>A (p.Gly758Glu) rs748540948
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.2291T>G (p.Ile764Arg) rs759440817
NM_000527.5(LDLR):c.2298A>G (p.Thr766=)
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.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2312-6C>T rs1568618143
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
NM_000527.5(LDLR):c.2315T>C (p.Leu772Pro) rs754328605
NM_000527.5(LDLR):c.2330G>T (p.Gly777Val)
NM_000527.5(LDLR):c.2350C>T (p.Pro784Ser) rs2077661446
NM_000527.5(LDLR):c.2366C>G (p.Ala789Gly) rs1286799492
NM_000527.5(LDLR):c.2376T>C (p.Ile792=) rs2077662374
NM_000527.5(LDLR):c.2389+7G>A
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2432A>G (p.Lys811Arg)
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.244_246del (p.Cys82del) rs1568591929
NM_000527.5(LDLR):c.2452A>G (p.Ile818Val) rs2147287069
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
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.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.2531G>A (p.Gly844Asp) rs121908037
NM_000527.5(LDLR):c.2536_2538del (p.Ser846del)
NM_000527.5(LDLR):c.2540A>C (p.Tyr847Ser) rs2077690044
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.5(LDLR):c.2547G>A (p.Ser849=) rs1249903899
NM_000527.5(LDLR):c.2548-19G>A
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.2580G>A (p.Ala860=) rs1285017808
NM_000527.5(LDLR):c.270T>C (p.Asp90=) rs372828849
NM_000527.5(LDLR):c.279G>A (p.Val93=)
NM_000527.5(LDLR):c.27C>T (p.Arg9=) rs2077057436
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) rs879254457
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.303del (p.Glu101fs) rs764797225
NM_000527.5(LDLR):c.30G>A (p.Trp10Ter) rs1568582652
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+5G>T rs879254467
NM_000527.5(LDLR):c.314-6C>G rs2147223016
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.324G>A (p.Thr108=) rs146517429
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.336C>T (p.Asp112=) rs747806084
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.362G>A (p.Cys121Tyr) rs193922571
NM_000527.5(LDLR):c.364A>C (p.Ile122Leu)
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495
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.375G>A (p.Gln125=) rs2147223505
NM_000527.5(LDLR):c.380T>C (p.Val127Ala)
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr) rs879254508
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>T (p.Cys134Phe) rs879254514
NM_000527.5(LDLR):c.406G>A (p.Asp136Asn) rs2077270167
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
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.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.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.449C>A (p.Pro150His)
NM_000527.5(LDLR):c.462G>C (p.Gln154His) rs2077272207
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.491T>C (p.Leu164Pro) rs879254544
NM_000527.5(LDLR):c.496G>A (p.Ala166Thr) rs2077273342
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.503A>G (p.Asp168Gly) rs879254549
NM_000527.5(LDLR):c.505_511del (p.Asn169fs) rs1568594903
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
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.551G>A (p.Cys184Tyr)
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.56C>G (p.Ala19Gly) rs879254392
NM_000527.5(LDLR):c.56C>T (p.Ala19Val) rs879254392
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.593C>T (p.Ser198Leu) rs748672083
NM_000527.5(LDLR):c.597C>T (p.Ala199=) rs749351012
NM_000527.5(LDLR):c.59G>A (p.Gly20Glu) rs1568582750
NM_000527.5(LDLR):c.603G>A (p.Glu201=)
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
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.650A>G (p.Asp217Gly) rs2077279531
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.658C>T (p.Pro220Ser) rs2077280086
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.663C>G (p.Asp221Glu) rs2077280675
NM_000527.5(LDLR):c.666C>T (p.Cys222=) rs756613387
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.677_681dup (p.Glu228fs) rs2077282376
NM_000527.5(LDLR):c.68-13T>G
NM_000527.5(LDLR):c.68-4T>C rs2077192055
NM_000527.5(LDLR):c.68-8T>C rs2077191949
NM_000527.5(LDLR):c.680_682delinsCA (p.Asp227fs) rs879254637
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.689A>T (p.Asn230Ile) rs2077283326
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.693C>T (p.Cys231=)
NM_000527.5(LDLR):c.694+1G>A rs879254646
NM_000527.5(LDLR):c.694+6G>A rs1019330092
NM_000527.5(LDLR):c.694+8_694+18del rs777512182
NM_000527.5(LDLR):c.695-10T>C rs778975482
NM_000527.5(LDLR):c.695-10T>G
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.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.712C>G (p.Pro238Ala) rs376963526
NM_000527.5(LDLR):c.750T>C (p.His250=) rs141929940
NM_000527.5(LDLR):c.752G>A (p.Gly251Asp)
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.759G>A (p.Arg253=) rs2077299486
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.776A>C (p.Tyr259Ser) rs2077300176
NM_000527.5(LDLR):c.792G>A (p.Met264Ile) rs1200173530
NM_000527.5(LDLR):c.79_81delinsCGT (p.Cys27Arg) rs2077192500
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
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+6C>T
NM_000527.5(LDLR):c.817+9T>C
NM_000527.5(LDLR):c.818-5C>T
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.86del (p.Arg29fs)
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
NM_000527.5(LDLR):c.893T>C (p.Met298Thr)
NM_000527.5(LDLR):c.899G>A (p.Arg300Lys) rs2077313724
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
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.928A>T (p.Ile310Phe)
NM_000527.5(LDLR):c.929T>A (p.Ile310Asn) rs879254722
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.936G>T (p.Glu312Asp) rs2077315472
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.940+3G>A rs1568598062
NM_000527.5(LDLR):c.940+3_940+6del rs2077315885
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-11G>T
NM_000527.5(LDLR):c.941-4G>A
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.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.966C>A (p.Asn322Lys) rs567080879
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.970G>T (p.Gly324Cys) rs72658860
NM_000527.5(LDLR):c.973T>C (p.Cys325Arg) rs1568600328
NM_000527.5(LDLR):c.979del (p.His327fs) rs2077361581
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
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.988A>G (p.Asn330Asp) rs730882095
NM_000527.5(LDLR):c.990T>A (p.Asn330Lys) rs1568600400
NR_163945.1(LDLR-AS1):n.308C>T rs2077054310
NR_163945.1(LDLR-AS1):n.328G>C rs17249141

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