ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by LDLR-LOVD, British Heart Foundation

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ClinVar version:
Total variants: 1679
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2312-136A>G rs2569538 0.86836
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.2548-42A>G rs6413504 0.39303
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.1705+56C>T rs4508523 0.21747
NM_000527.5(LDLR):c.67+2015G>T rs6511720 0.11675
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_000527.5(LDLR):c.190+56G>A rs3745677 0.09858
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.2312-47G>A rs41306974 0.01134
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NC_000019.10:g.11089281G>T rs17249134 0.00679
NM_000527.5(LDLR):c.2389+57C>T rs145293532 0.00605
NC_000019.10:g.11089332C>T rs17249141 0.00338
NM_000527.5(LDLR):c.1060+59A>C rs55642005 0.00338
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00260
NM_000527.5(LDLR):c.313+69C>T rs56084625 0.00227
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.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000527.5(LDLR):c.1186+29C>A rs201971341 0.00061
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.940+16G>A rs72658859 0.00028
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
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.1538G>A (p.Arg513Lys) rs879254934 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.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.1359-3C>T rs775657243 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.2389+23G>A rs770347398 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.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.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.190+34T>C rs758901876 0.00004
NM_000527.5(LDLR):c.1987+10G>T rs375846192 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.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.1060+24C>A rs370478935 0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.1383C>T (p.Gly461=) rs764929176 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.1954A>G (p.Met652Val) rs730882111 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 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.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 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
NC_000019.10:g.11089396C>T rs879254366 0.00002
NC_000019.10:g.11089410C>G rs879254371 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.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg) rs746982741 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) rs749780672 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.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000527.5(LDLR):c.2294T>G (p.Val765Gly) rs879255170 0.00002
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282 0.00002
NM_000527.5(LDLR):c.695-105G>C rs879254649 0.00002
NC_000019.10:g.11089429C>T rs875989886 0.00001
NM_000527.5(LDLR):c.-14C>A rs879254380 0.00001
NM_000527.5(LDLR):c.1020C>G (p.Cys340Trp) rs777524402 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776 0.00001
NM_000527.5(LDLR):c.1129T>G (p.Cys377Gly) rs773064328 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val) rs879254808 0.00001
NM_000527.5(LDLR):c.1186+10G>C rs781336025 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.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1359-29G>A rs879254877 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.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 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.1634G>A (p.Gly545Glu) rs759876319 0.00001
NM_000527.5(LDLR):c.1658A>G (p.Tyr553Cys) rs879254974 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser) rs879255034 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 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.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) rs879255094 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.2061dup (p.Asn688fs) rs137853965 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.2140G>T (p.Glu714Ter) rs869320652 0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) rs767546791 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 0.00001
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) rs761683856 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.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.413C>G (p.Ser138Ter) rs755799528 0.00001
NM_000527.5(LDLR):c.418G>T (p.Glu140Ter) rs748944640 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 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.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.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.544C>T (p.Gln182Ter) rs879254570 0.00001
NM_000527.5(LDLR):c.584G>A (p.Ser195Asn) rs879254583 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.674_681dup (p.Glu228fs) rs1555803423 0.00001
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys) rs879254657 0.00001
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr) rs879254665 0.00001
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter) rs879254672 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) rs879254682 0.00001
NM_000527.5(LDLR):c.810C>T (p.Cys270=) rs773328511 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.889A>C (p.Asn297His) rs879254709 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 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.947A>G (p.Asn316Ser) rs730882094 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_000527.5(LDLR):c.969C>T (p.Gly323=) rs199622547 0.00001
FH Bologna 2
FH Cape Town 2
FH French Canadian 5
FH London 1
FH Paris 1 rs1555803632
FH Reykjavik
FH Tonami 1
FH Tsukuba 2
FH Vancouver 2
FH Vancouver 3
FH Vancouver 4
FH Vancouver 6
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
NC_000019.10:g.11089334A>G rs879254360
NC_000019.10:g.11089341A>T rs879254361
NC_000019.10:g.11089343C>T rs549995837
NC_000019.10:g.11089356_11089363delinsTG rs879254362
NC_000019.10:g.11089364_11089366del rs879254363
NC_000019.10:g.11089393C>T rs879254364
NC_000019.10:g.11089394_11089395delinsTTCTGCAAACTCCT rs879254365
NC_000019.10:g.11089397C>T
NC_000019.10:g.11089400C>A rs879254368
NC_000019.10:g.11089403C>A rs879254369
NC_000019.10:g.11089407C>T rs879254370
NC_000019.10:g.11089409C>G rs875989887
NC_000019.10:g.11089409C>T rs875989887
NC_000019.10:g.11089410C>A rs879254371
NC_000019.10:g.11089411T>C rs879254372
NC_000019.10:g.11089411del rs387906307
NC_000019.10:g.11089412C>T rs879254373
NC_000019.10:g.11089413C>G rs879254374
NC_000019.10:g.11089413C>T rs879254374
NC_000019.10:g.11089414C>G
NC_000019.10:g.11089448T>C rs747068848
NC_000019.10:g.11089461G>A
NC_000019.9:g.11224039_11224040ins(96)
NG_009060.1(LDLR):g.15965TG[3]
NG_009060.1(LDLR):g.[18284_22307del4024;27134_45290dup18157]
NG_009060.1(LDLR):g.[27134_32618del5485;4982_15965del10984]
NM_000527.4(LDLR):c.-1823_190+566del
NM_000527.4(LDLR):c.-221_-220insA rs879254359
NM_000527.4(LDLR):c.1186+700_2141-545del
NM_000527.4(LDLR):c.1187-169_2312-790del
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.190+984_1846-1160del
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.4(LDLR):c.67+3968_940+296dup
NM_000527.4(LDLR):c.680_681ins(21)
NM_000527.4(LDLR):c.680_682delACGins14 (p.?)
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.[649_654dupGATGGT;657_661delCCCCG]
NM_000527.5(LDLR):c.*43G>A rs879254527
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.-22del rs879254379
NM_000527.5(LDLR):c.-36T>G rs879254378
NM_000527.5(LDLR):c.-5C>T rs879254381
NM_000527.5(LDLR):c.-68A>C rs879254377
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter) rs767024374
NM_000527.5(LDLR):c.1008del (p.Gly335_Tyr336insTer) rs879254751
NM_000527.5(LDLR):c.1009_1032del (p.Glu337_Phe344del) rs879254752
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.5(LDLR):c.1012T>C (p.Cys338Arg) 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.1014C>A (p.Cys338Ter) rs879254755
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
NM_000527.5(LDLR):c.1017dup (p.Cys340fs) rs879254757
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.101G>C (p.Cys34Ser) rs879254406
NM_000527.5(LDLR):c.1022C>G (p.Pro341Arg) rs879254759
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1027G>T (p.Gly343Cys) rs730882096
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.5(LDLR):c.102C>A (p.Cys34Ter) rs879254407
NM_000527.5(LDLR):c.1031del (p.Phe344fs) rs879254761
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
NM_000527.5(LDLR):c.1034dup (p.Leu346fs) rs879254762
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter) rs879254408
NM_000527.5(LDLR):c.1042_1043insA (p.Ala348fs) rs879254763
NM_000527.5(LDLR):c.1042del (p.Ala348fs) rs879254764
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.5(LDLR):c.1045dup (p.Gln349fs) rs879254765
NM_000527.5(LDLR):c.1046del (p.Gln349fs) rs879254767
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1053_1060dup (p.Ile355fs) rs879254768
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser) rs879254769
NM_000527.5(LDLR):c.1054T>C (p.Cys352Arg) rs879254769
NM_000527.5(LDLR):c.1054_1064del (p.Cys352fs)
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.1060+10G>C
NM_000527.5(LDLR):c.1060+16dup rs879254772
NM_000527.5(LDLR):c.1060+1G>A rs879254771
NM_000527.5(LDLR):c.1060+1G>T rs879254771
NM_000527.5(LDLR):c.1060+26T>G rs375850141
NM_000527.5(LDLR):c.1060+39C>G rs777644641
NM_000527.5(LDLR):c.1061-1G>A rs879254774
NM_000527.5(LDLR):c.1061-2A>G rs879254773
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1061A>C (p.Asp354Ala) rs755449669
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1062dup (p.Ile355fs) rs879254775
NM_000527.5(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1067A>C (p.Asp356Ala) rs879254777
NM_000527.5(LDLR):c.1067del (p.Asp356fs) rs879254778
NM_000527.5(LDLR):c.1068delinsAGAGTGTCAGGATCCCGAC (p.Ile355_Asp356insGluGluCysGlnAspPro) rs879254779
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1069_1086dup (p.Glu357_Asp362dup) rs879254780
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly) rs753248521
NM_000527.5(LDLR):c.1070_1073dup (p.Cys358Ter) rs879254782
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>T (p.Gln359Ter) rs879254784
NM_000527.5(LDLR):c.1076_1081del (p.Gln359_Asp360del) rs879254785
NM_000527.5(LDLR):c.1085del (p.Asp362fs) rs879254786
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.5(LDLR):c.108del (p.Asp36fs) rs879254409
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1091G>C (p.Cys364Ser) rs879254788
NM_000527.5(LDLR):c.1091G>T (p.Cys364Phe) rs879254788
NM_000527.5(LDLR):c.1096C>T (p.Gln366Ter) rs879254789
NM_000527.5(LDLR):c.1097A>C (p.Gln366Pro) rs746982741
NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)
NM_000527.5(LDLR):c.1102T>G (p.Cys368Gly) rs879254791
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser) rs768430352
NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter) rs113669610
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr) rs879254792
NM_000527.5(LDLR):c.1110C>G (p.Asn370Lys) rs879254793
NM_000527.5(LDLR):c.1113_1114insTGGG (p.Glu372fs) rs879254794
NM_000527.5(LDLR):c.1115_1123delinsCACTGA (p.Glu372_Tyr375delinsAlaLeuAsn) rs879254795
NM_000527.5(LDLR):c.1117G>T (p.Gly373Cys) rs879254796
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
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.1120_1121delinsTC (p.Gly374Ser) rs879254798
NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs) rs879254799
NM_000527.5(LDLR):c.1123_1124insC (p.Tyr375fs) rs1555804777
NM_000527.5(LDLR):c.1124A>C (p.Tyr375Ser) rs879254800
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.5(LDLR):c.1130G>C (p.Cys377Ser) rs879254801
NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter) rs879254802
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1135_1186+14del rs1555804793
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.114dup (p.Cys39fs) rs879254410
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.1151_1159del (p.Gln384_Asp386del) rs879254806
NM_000527.5(LDLR):c.1154T>G (p.Leu385Arg) rs879254809
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu) rs879254810
NM_000527.5(LDLR):c.1162del (p.His388fs) rs875989917
NM_000527.5(LDLR):c.1168A>T (p.Lys390Ter) rs879254811
NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter) rs879254411
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1173del (p.Cys392fs) rs879254812
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg) rs879254814
NM_000527.5(LDLR):c.1174dup (p.Cys392fs) rs879254813
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1178del (p.Lys393fs) rs879254815
NM_000527.5(LDLR):c.1179G>C (p.Lys393Asn) rs879254816
NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer) rs879254412
NM_000527.5(LDLR):c.1182del (p.Val395fs) rs879254817
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+1G>A rs730880131
NM_000527.5(LDLR):c.1186+1del rs879254819
NM_000527.5(LDLR):c.1186+41T>A rs536387604
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1187-1G>A rs879254824
NM_000527.5(LDLR):c.1187-1G>T rs879254824
NM_000527.5(LDLR):c.1187-2A>G rs879254823
NM_000527.5(LDLR):c.1189T>A (p.Ser397Thr) rs879254825
NM_000527.5(LDLR):c.118del (p.Ile40fs) rs879254413
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1197_2205del (p.Ala399_Tyr400insTer)
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.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del) rs879254830
NM_000527.5(LDLR):c.1205dup (p.Phe403fs) rs879254828
NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs) rs879254829
NM_000527.5(LDLR):c.1207T>C (p.Phe403Leu) rs879254831
NM_000527.5(LDLR):c.1208del (p.Phe403fs) rs879254832
NM_000527.5(LDLR):c.1209del (p.Phe403fs) rs879254833
NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro) rs879254834
NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile) rs879254835
NM_000527.5(LDLR):c.1214A>C (p.Asn405Thr) rs879254836
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys) 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.1217G>C (p.Arg406Pro) rs552422789
NM_000527.5(LDLR):c.1223A>C (p.Glu408Ala) rs879254838
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.5(LDLR):c.1230G>T (p.Arg410Ser) rs879254839
NM_000527.5(LDLR):c.1231A>G (p.Lys411Glu) rs879254840
NM_000527.5(LDLR):c.1233del (p.Lys411_Met412insTer) rs879254841
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr) rs879254842
NM_000527.5(LDLR):c.1236G>A (p.Met412Ile) rs879254843
NM_000527.5(LDLR):c.1243G>C (p.Asp415His) rs879254844
NM_000527.5(LDLR):c.1244A>G (p.Asp415Gly) rs879254845
NM_000527.5(LDLR):c.1244A>T (p.Asp415Val) rs879254845
NM_000527.5(LDLR):c.1245_1249dup (p.Ser417fs) rs879254846
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro) rs773658037
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.1257C>A (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1265T>C (p.Leu422Pro) rs879254848
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter)
NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile) rs879254850
NM_000527.5(LDLR):c.1283A>G (p.Asn428Ser) rs879254852
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1288G>C (p.Val430Leu) rs879254853
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1291_1331del (p.Val430_Ala431insTer) rs879254854
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro) rs879254855
NM_000527.5(LDLR):c.1296_1298del (p.Asp433del) rs879254856
NM_000527.5(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.5(LDLR):c.1297G>T (p.Asp433Tyr) rs121908036
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.5(LDLR):c.1303del (p.Glu435fs) rs879254857
NM_000527.5(LDLR):c.1306del (p.Val436fs) rs879254858
NM_000527.5(LDLR):c.1309dup (p.Ala437fs) rs879254859
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.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1322T>A (p.Ile441Asn) rs879254862
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.5(LDLR):c.1324T>A (p.Tyr442Asn) rs879254863
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter) rs879254865
NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter) rs879254866
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter) rs879254867
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.132_133dup (p.Val45fs) rs879254414
NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro) rs875989919
NM_000527.5(LDLR):c.1336del (p.Leu446fs) rs879254868
NM_000527.5(LDLR):c.1339T>C (p.Ser447Pro) rs879254869
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys) rs879254870
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1343del (p.Gln448fs) rs879254872
NM_000527.5(LDLR):c.1351A>T (p.Ile451Phe) rs879254873
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1358+1G>T rs775924858
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1358+3_1358+8del rs879254875
NM_000527.5(LDLR):c.1359-1G>C rs139617694
NM_000527.5(LDLR):c.1359-30C>T
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1359-4T>C rs879254878
NM_000527.5(LDLR):c.1361C>A (p.Thr454Asn) rs879254879
NM_000527.5(LDLR):c.1363C>T (p.Gln455Ter) rs879254880
NM_000527.5(LDLR):c.1363del (p.Gln455fs) rs879254881
NM_000527.5(LDLR):c.1365del (p.Gln455fs) rs879254882
NM_000527.5(LDLR):c.1367T>A (p.Leu456His) rs200143634
NM_000527.5(LDLR):c.1367_1376del (p.Leu456fs) rs879254883
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly) rs879254415
NM_000527.5(LDLR):c.1371_1374dup (p.Ala459fs) rs875989920
NM_000527.5(LDLR):c.1374_1375del (p.Arg458fs) rs879254884
NM_000527.5(LDLR):c.1376C>G (p.Ala459Gly) rs377388822
NM_000527.5(LDLR):c.1377_1380del (p.His460fs) rs879254885
NM_000527.5(LDLR):c.1379_1396delinsCAGCTTA (p.His460_Asp466delinsProAlaTer) rs879254886
NM_000527.5(LDLR):c.1379_1402delinsCAGCTTGACCCGC (p.His460_Val468delinsProAlaTer) rs879254887
NM_000527.5(LDLR):c.137G>A (p.Cys46Tyr) rs121908041
NM_000527.5(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_000527.5(LDLR):c.138C>A (p.Cys46Ter) rs754676104
NM_000527.5(LDLR):c.1392del (p.Tyr465fs) rs879254888
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.5(LDLR):c.1400C>T (p.Thr467Ile) rs754411636
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_000527.5(LDLR):c.1411A>G (p.Arg471Gly) rs879254891
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_000527.5(LDLR):c.1417_1431del (p.Ile473_Asp477del) rs879254893
NM_000527.5(LDLR):c.1418T>A (p.Ile473Asn) rs879254895
NM_000527.5(LDLR):c.1420C>T (p.Gln474Ter) rs201967266
NM_000527.5(LDLR):c.1423_1424delinsA (p.Ala475fs) rs879254896
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1426C>T (p.Pro476Ser) rs879254898
NM_000527.5(LDLR):c.1428dup (p.Asp477fs) rs876657697
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1434del (p.Leu479fs) rs879254899
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900
NM_000527.5(LDLR):c.1438G>C (p.Ala480Pro) rs879254901
NM_000527.5(LDLR):c.1439_1449del (p.Ala480fs) rs879254902
NM_000527.5(LDLR):c.1441G>A (p.Val481Met) rs879254903
NM_000527.5(LDLR):c.1444G>C (p.Asp482His) rs139624145
NM_000527.5(LDLR):c.1444G>T (p.Asp482Tyr) rs139624145
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.1448G>A (p.Trp483Ter) rs875989921
NM_000527.5(LDLR):c.1449G>A (p.Trp483Ter) rs879254907
NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.5(LDLR):c.1454A>G (p.His485Arg) rs879254906
NM_000527.5(LDLR):c.1455C>G (p.His485Gln) rs879254908
NM_000527.5(LDLR):c.1456A>G (p.Ser486Gly) rs879254909
NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn) rs879254910
NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser) rs879254912
NM_000527.5(LDLR):c.1460_1462del (p.Asn487del) rs879254911
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1463T>G (p.Ile488Ser) rs879254913
NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys) rs879254914
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.5(LDLR):c.1468T>G (p.Trp490Gly) rs730880130
NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter) rs875989922
NM_000527.5(LDLR):c.1470G>A (p.Trp490Ter) rs879254915
NM_000527.5(LDLR):c.1471dup (p.Thr491fs) rs879254916
NM_000527.5(LDLR):c.1472C>A (p.Thr491Asn) rs879254917
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.5(LDLR):c.1477_1479delinsAGAGACA (p.Ser493fs) rs879254919
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.147C>A (p.Ser49Arg) rs138078086
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs) rs869025454
NM_000527.5(LDLR):c.1487G>T (p.Gly496Val) rs751603969
NM_000527.5(LDLR):c.1489A>C (p.Thr497Pro)
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.148del (p.Ala50fs) rs879254417
NM_000527.5(LDLR):c.1492G>T (p.Val498Phe) rs759139712
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1496_1497del (p.Ser499fs) rs879254922
NM_000527.5(LDLR):c.1498_1499del (p.Val500fs) rs879254923
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) rs755667663
NM_000527.5(LDLR):c.1502dup (p.Asp502fs) rs879254924
NM_000527.5(LDLR):c.1504G>T (p.Asp502Tyr) rs879254925
NM_000527.5(LDLR):c.1510A>T (p.Lys504Ter) rs730882103
NM_000527.5(LDLR):c.1514G>A (p.Gly505Asp) rs879254926
NM_000527.5(LDLR):c.1516_1562del (p.Val506fs) rs879254927
NM_000527.5(LDLR):c.1519A>G (p.Lys507Glu) rs879254928
NM_000527.5(LDLR):c.1520A>C (p.Lys507Thr) rs879254929
NM_000527.5(LDLR):c.1522delinsCTGAAT (p.Arg508fs) rs879254930
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu) rs879254931
NM_000527.5(LDLR):c.1532T>C (p.Leu511Ser) rs879254932
NM_000527.5(LDLR):c.1532T>G (p.Leu511Ter) rs879254932
NM_000527.5(LDLR):c.1533dup (p.Phe512fs) rs879254933
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.5(LDLR):c.1549_1555del (p.Ser517fs) rs879254935
NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu) rs879254937
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg) rs879254938
NM_000527.5(LDLR):c.1555C>T (p.Pro519Ser) rs875989923
NM_000527.5(LDLR):c.1558A>G (p.Arg520Gly) rs879254939
NM_000527.5(LDLR):c.155G>A (p.Cys52Tyr) rs879254418
NM_000527.5(LDLR):c.1561G>A (p.Ala521Thr) rs879254940
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)
NM_000527.5(LDLR):c.1567_1575del (p.Val523_Asp525del) rs879254941
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
NM_000527.5(LDLR):c.1571T>G (p.Val524Gly)
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr) rs730882106
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg) rs879254944
NM_000527.5(LDLR):c.157C>T (p.Gln53Ter) rs879254419
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1586+1G>T rs755389753
NM_000527.5(LDLR):c.1586+2T>A rs879254945
NM_000527.5(LDLR):c.1586+2T>C rs879254945
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1587-1G>A rs879254948
NM_000527.5(LDLR):c.1587-2A>G rs879254947
NM_000527.5(LDLR):c.1587-2A>T rs879254947
NM_000527.5(LDLR):c.1587-51G>T rs879254946
NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs) rs879254949
NM_000527.5(LDLR):c.1592_1627del (p.Met531_Ile542del) rs879254950
NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg) 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.1600_1608del (p.Thr534_Trp536del) rs879254953
NM_000527.5(LDLR):c.1601C>A (p.Thr534Asn) rs879254954
NM_000527.5(LDLR):c.1603G>T (p.Asp535Tyr) rs879254955
NM_000527.5(LDLR):c.1606T>G (p.Trp536Gly) rs879254956
NM_000527.5(LDLR):c.1607G>A (p.Trp536Ter) rs879254957
NM_000527.5(LDLR):c.1609G>T (p.Gly537Ter) rs879254958
NM_000527.5(LDLR):c.1610del (p.Gly537fs) rs879254959
NM_000527.5(LDLR):c.1612A>T (p.Thr538Ser) rs879254960
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
NM_000527.5(LDLR):c.1618_1620del (p.Ala540del) rs879254961
NM_000527.5(LDLR):c.1625T>G (p.Ile542Ser) rs879254962
NM_000527.5(LDLR):c.1629_1652del (p.Lys543_Asp551delinsAsn) rs879254963
NM_000527.5(LDLR):c.1632del (p.Gly546fs) rs879254964
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.1633G>T (p.Gly545Trp) 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.1640T>C (p.Leu547Pro) rs879254968
NM_000527.5(LDLR):c.1640_1652delinsAGCGTCATCTTCCTGAC (p.Leu547fs) rs879254967
NM_000527.5(LDLR):c.1644T>A (p.Asn548Lys) rs879254970
NM_000527.5(LDLR):c.1644T>G (p.Asn548Lys) rs879254970
NM_000527.5(LDLR):c.1644_1645insC (p.Gly549fs) rs879254969
NM_000527.5(LDLR):c.1645_1646insC (p.Gly549fs) rs879254971
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1646G>T (p.Gly549Val) rs28941776
NM_000527.5(LDLR):c.1651del (p.Asp551fs) rs879254973
NM_000527.5(LDLR):c.1655del (p.Ile552fs) rs879254972
NM_000527.5(LDLR):c.1659_1661delinsATACTTTCA (p.Tyr553_Ser554delinsTer) rs879254975
NM_000527.5(LDLR):c.1661C>A (p.Ser554Ter) rs879254976
NM_000527.5(LDLR):c.1662_1669dup (p.Thr557delinsSerTrpTer) rs879254977
NM_000527.5(LDLR):c.1664T>C (p.Leu555Pro) rs879254978
NM_000527.5(LDLR):c.166T>C (p.Ser56Pro) rs878854026
NM_000527.5(LDLR):c.1671_1672del (p.Glu558fs) rs879254979
NM_000527.5(LDLR):c.1672G>T (p.Glu558Ter) rs879254980
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.5(LDLR):c.1683del (p.Gln561fs) rs879254982
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>A (p.Trp562Ter) rs879254985
NM_000527.5(LDLR):c.1686_1693delinsT (p.Trp562fs) rs879254984
NM_000527.5(LDLR):c.1687C>T (p.Pro563Ser) rs879254986
NM_000527.5(LDLR):c.1688C>A (p.Pro563His) rs879254987
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.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) rs879254989
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1702_1705dup (p.Asp569fs) rs879254990
NM_000527.5(LDLR):c.1703T>C (p.Leu568Pro) rs879254991
NM_000527.5(LDLR):c.1705+112C>G rs879254995
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1705+1G>C rs875989926
NM_000527.5(LDLR):c.1705+1G>T rs875989926
NM_000527.5(LDLR):c.1705+1del rs879254992
NM_000527.5(LDLR):c.1705+2_1705+3insC rs879254994
NM_000527.5(LDLR):c.1705G>T (p.Asp569Tyr) rs879254993
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1706-1G>A rs879254996
NM_000527.5(LDLR):c.1706-1G>T rs879254996
NM_000527.5(LDLR):c.1706-23T>C rs748089731
NM_000527.5(LDLR):c.1706-2A>C rs878854027
NM_000527.5(LDLR):c.1706-2A>T rs878854027
NM_000527.5(LDLR):c.1706-69G>T rs7259278
NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.5(LDLR):c.1715_1719delinsA (p.Ser572fs) rs875989927
NM_000527.5(LDLR):c.1718del (p.Gly573fs) rs879254998
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1727A>C (p.Tyr576Ser) rs879254999
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys) rs879254999
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.5(LDLR):c.172G>A (p.Glu58Lys) rs879254423
NM_000527.5(LDLR):c.172del (p.Glu58fs) rs879254422
NM_000527.5(LDLR):c.1730_1738del (p.Trp577_Asp579del) rs879255001
NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter) rs875989928
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.5(LDLR):c.1735_1736insTCG (p.Val578dup) rs879255002
NM_000527.5(LDLR):c.1736A>C (p.Asp579Ala) rs879255003
NM_000527.5(LDLR):c.1736A>G (p.Asp579Gly) rs879255003
NM_000527.5(LDLR):c.1737C>G (p.Asp579Glu) rs879255004
NM_000527.5(LDLR):c.1737del (p.Ser580fs) rs879255005
NM_000527.5(LDLR):c.173A>G (p.Glu58Gly) rs879254424
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1745_1746del (p.Leu582fs) rs879255006
NM_000527.5(LDLR):c.1747C>G (p.His583Asp) rs730882109
NM_000527.5(LDLR):c.1748A>G (p.His583Arg) rs879255007
NM_000527.5(LDLR):c.1749C>A (p.His583Gln) rs879255009
NM_000527.5(LDLR):c.1749_1753del (p.Ser584fs) rs879255008
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
NM_000527.5(LDLR):c.1752del (p.Ile585fs) rs879255011
NM_000527.5(LDLR):c.1754T>A (p.Ile585Asn) rs879255012
NM_000527.5(LDLR):c.1754T>C (p.Ile585Thr) rs879255012
NM_000527.5(LDLR):c.1756del (p.Ser586fs) rs879255013
NM_000527.5(LDLR):c.1759del (p.Ser587fs) rs879255014
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.1766_1767del (p.Asp589fs) rs879255015
NM_000527.5(LDLR):c.1766del (p.Asp589fs) rs879255016
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1776_1778del (p.Gly593del) rs875989931
NM_000527.5(LDLR):c.1778del (p.Gly593fs) rs875989931
NM_000527.5(LDLR):c.1778dup (p.Asn594fs) rs875989931
NM_000527.5(LDLR):c.1779del (p.Asn594fs) rs879255019
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784G>T (p.Arg595Leu) rs201102492
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) rs879255020
NM_000527.5(LDLR):c.1786A>T (p.Lys596Ter) rs879255021
NM_000527.5(LDLR):c.1789del (p.Thr597fs) rs879255022
NM_000527.5(LDLR):c.1792A>C (p.Ile598Leu) rs879255023
NM_000527.5(LDLR):c.1793T>A (p.Ile598Asn) rs879255024
NM_000527.5(LDLR):c.1793T>C (p.Ile598Thr) rs879255024
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1796T>G (p.Leu599Trp) rs879255025
NM_000527.5(LDLR):c.1798G>T (p.Glu600Ter) rs879255026
NM_000527.5(LDLR):c.1801G>T (p.Asp601Tyr) rs753707206
NM_000527.5(LDLR):c.1802A>T (p.Asp601Val) rs879255027
NM_000527.5(LDLR):c.1802dup (p.Asp601fs) rs879255028
NM_000527.5(LDLR):c.1807A>T (p.Lys603Ter) rs879255029
NM_000527.5(LDLR):c.1809G>C (p.Lys603Asn) rs879255030
NM_000527.5(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.5(LDLR):c.1815_1825del (p.Ala606fs) rs879255032
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1820A>G (p.His607Arg) rs879255033
NM_000527.5(LDLR):c.1822C>A (p.Pro608Thr) rs879255034
NM_000527.5(LDLR):c.1823C>G (p.Pro608Arg) rs879255035
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu) rs879255035
NM_000527.5(LDLR):c.1825T>C (p.Phe609Leu) rs879255036
NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys) rs879255038
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.1832dup (p.Leu611fs) rs879255039
NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe) rs879255041
NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe) rs879255041
NM_000527.5(LDLR):c.1833_1841del (p.Leu611_Val613del) rs879255040
NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser) rs879255042
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1840T>A (p.Phe614Ile) rs879255043
NM_000527.5(LDLR):c.1841_1842del (p.Val613_Phe614insTer) rs879255044
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.5(LDLR):c.1844A>T (p.Glu615Val) rs879255046
NM_000527.5(LDLR):c.1845+11C>G rs370245937
NM_000527.5(LDLR):c.1845+15C>A rs759867686
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1845+1G>C
NM_000527.5(LDLR):c.1845+1G>T rs879255049
NM_000527.5(LDLR):c.1845+1del
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.1846-1G>C rs879255051
NM_000527.5(LDLR):c.1846-2A>C rs879255050
NM_000527.5(LDLR):c.1853_1864del (p.Val618_Thr621del) rs879255052
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.1855_1856insA (p.Phe619fs) rs879255053
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser) rs879255054
NM_000527.5(LDLR):c.1856T>G (p.Phe619Cys) rs879255054
NM_000527.5(LDLR):c.1858T>C (p.Trp620Arg) rs879255055
NM_000527.5(LDLR):c.1859G>A (p.Trp620Ter)
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.185_186insT (p.Cys63fs) rs879254425
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.5(LDLR):c.1860G>C (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1860dup (p.Thr621fs) rs879255057
NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg) rs879255058
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) rs879255059
NM_000527.5(LDLR):c.1865A>C (p.Asp622Ala) rs879255060
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.5(LDLR):c.1867_1868del (p.Ile623fs) rs879255061
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1872del (p.Asn625fs) rs879255063
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1876del (p.Glu626fs) rs879255065
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) rs879254426
NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp) rs875989934
NM_000527.5(LDLR):c.1880C>T (p.Ala627Val) rs875989934
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr) rs879255067
NM_000527.5(LDLR):c.1885T>G (p.Phe629Val) rs765736500
NM_000527.5(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.5(LDLR):c.1891_2311+1062del
NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp) rs879255070
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+1G>A rs879254428
NM_000527.5(LDLR):c.190+1G>T rs879254428
NM_000527.5(LDLR):c.190+2T>G rs879254430
NM_000527.5(LDLR):c.1904C>T (p.Thr635Ile) rs879255071
NM_000527.5(LDLR):c.1907G>A (p.Gly636Asp) rs879255072
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.191-252_191-247del rs879254431
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.191-2delinsCT rs879254432
NM_000527.5(LDLR):c.191-512_940+631del
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1916T>G (p.Val639Gly) rs794728584
NM_000527.5(LDLR):c.1925T>C (p.Leu642Ser) rs879255073
NM_000527.5(LDLR):c.1927G>C (p.Ala643Pro) rs879255074
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.5(LDLR):c.1934dup (p.Asn645fs) rs879255076
NM_000527.5(LDLR):c.1935_1936insA (p.Leu646fs) rs879255077
NM_000527.5(LDLR):c.1936C>A (p.Leu646Ile) rs779940524
NM_000527.5(LDLR):c.1936del (p.Leu646fs) rs879255078
NM_000527.5(LDLR):c.193_201delinsGACTTCA (p.Ser65fs) rs879254434
NM_000527.5(LDLR):c.1942T>C (p.Ser648Pro) rs879255079
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.1946del (p.Pro649fs) rs879255082
NM_000527.5(LDLR):c.1946dup (p.Glu650fs) rs879255082
NM_000527.5(LDLR):c.1948G>A (p.Glu650Lys) rs768724935
NM_000527.5(LDLR):c.1948_1952dup (p.Asp651fs) rs1555807275
NM_000527.5(LDLR):c.1951G>T (p.Asp651Tyr) rs730882110
NM_000527.5(LDLR):c.1952A>T (p.Asp651Val) rs563382937
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.1958T>G (p.Val653Gly) rs879255086
NM_000527.5(LDLR):c.195_196insA (p.Val66fs) rs1555802710
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs) rs879254435
NM_000527.5(LDLR):c.195dup (p.Val66fs) rs879254435
NM_000527.5(LDLR):c.1960C>T (p.Leu654Phe) rs879255087
NM_000527.5(LDLR):c.1961_1965dup (p.His656fs) rs879255088
NM_000527.5(LDLR):c.1964del (p.Phe655fs) rs879255089
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.5(LDLR):c.1968C>G (p.His656Gln) rs879255091
NM_000527.5(LDLR):c.196_197del (p.Val66fs) rs875989889
NM_000527.5(LDLR):c.1973T>C (p.Leu658Pro) rs879255092
NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro) rs773693079
NM_000527.5(LDLR):c.1975_1987+16del rs879255093
NM_000527.5(LDLR):c.1978C>A (p.Gln660Lys) rs193922569
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg) rs879255095
NM_000527.5(LDLR):c.1986_1987delinsC (p.Arg662fs) rs879255096
NM_000527.5(LDLR):c.1987+1del rs879255097
NM_000527.5(LDLR):c.1987+2_1987+34del rs879255098
NM_000527.5(LDLR):c.1987+8dup rs879255099
NM_000527.5(LDLR):c.1988-2A>T rs879255101
NM_000527.5(LDLR):c.1988-42G>A rs879255100
NM_000527.5(LDLR):c.1988-52_2006del rs1555807306
NM_000527.5(LDLR):c.1988G>A (p.Gly663Glu) rs879255102
NM_000527.5(LDLR):c.1990G>A (p.Val664Met) rs879255103
NM_000527.5(LDLR):c.1996_2012del (p.Trp666fs) rs879255104
NM_000527.5(LDLR):c.1997G>A (p.Trp666Ter)
NM_000527.5(LDLR):c.1997G>T (p.Trp666Leu) rs879255105
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter) rs752935814
NM_000527.5(LDLR):c.1998del (p.Trp666fs) rs879255106
NM_000527.5(LDLR):c.1999T>A (p.Cys667Ser) rs150021927
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.199dup (p.Thr67fs) rs879254436
NM_000527.5(LDLR):c.1A>C (p.Met1Leu) rs879254382
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.2000G>T (p.Cys667Phe) rs28942083
NM_000527.5(LDLR):c.2000del (p.Cys667fs) rs879255107
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter) rs879255109
NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp) rs879255109
NM_000527.5(LDLR):c.2001_2007del (p.Trp666_Cys667insTer) rs879255108
NM_000527.5(LDLR):c.2013_2014del (p.Leu672fs) rs879255110
NM_000527.5(LDLR):c.2014del (p.Thr671_Leu672insTer) rs879255110
NM_000527.5(LDLR):c.2015del (p.Leu672fs) rs879255112
NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg)
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.2030G>A (p.Cys677Tyr) rs875989938
NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe) rs875989938
NM_000527.5(LDLR):c.2030_2042del (p.Cys677fs) rs879255113
NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter) rs879255114
NM_000527.5(LDLR):c.2033_2044del (p.Gln678_Cys681del) rs879255115
NM_000527.5(LDLR):c.2035dup (p.Tyr679fs) rs879255116
NM_000527.5(LDLR):c.2036dup (p.Tyr679Ter) rs879255117
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
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.2042G>C (p.Cys681Ser) rs201637900
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2043C>G (p.Cys681Trp) rs121908031
NM_000527.5(LDLR):c.2045T>C (p.Leu682Pro) rs879255119
NM_000527.5(LDLR):c.2046_2049del (p.Ala684fs) rs879255120
NM_000527.5(LDLR):c.204C>A (p.Cys68Ter) rs879254437
NM_000527.5(LDLR):c.2050_2063del (p.Ala684fs) rs879255121
NM_000527.5(LDLR):c.2053C>A (p.Pro685Thr) rs2569548
NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser) rs2569548
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2054del (p.Pro685fs) rs879255122
NM_000527.5(LDLR):c.2055_2067del (p.Gln686fs) rs879255123
NM_000527.5(LDLR):c.2055del (p.Gln686fs) rs879255124
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.5(LDLR):c.2056_2068del (p.Gln686fs) rs879255125
NM_000527.5(LDLR):c.2060del (p.Ile687fs) rs879255127
NM_000527.5(LDLR):c.2060dup (p.Asn688fs) rs751228587
NM_000527.5(LDLR):c.2063del (p.Asn688fs) rs879255128
NM_000527.5(LDLR):c.2063dup (p.Asn688fs) rs879255128
NM_000527.5(LDLR):c.2068C>G (p.His690Asp) rs757009067
NM_000527.5(LDLR):c.2068del (p.His690fs) rs879255130
NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter) rs369943481
NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs) rs879255131
NM_000527.5(LDLR):c.2080T>G (p.Phe694Val) rs879255132
NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs) rs879255133
NM_000527.5(LDLR):c.2087G>A (p.Cys696Tyr) rs879255134
NM_000527.5(LDLR):c.2088C>A (p.Cys696Ter) rs112954220
NM_000527.5(LDLR):c.2088C>G (p.Cys696Trp)
NM_000527.5(LDLR):c.2089G>C (p.Ala697Pro) rs776217028
NM_000527.5(LDLR):c.2092del (p.Cys698fs) rs879255135
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
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.2100C>G (p.Asp700Glu) rs759858813
NM_000527.5(LDLR):c.2108_2111dup (p.Arg706fs) rs879255140
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs) rs879255141
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr) rs879255142
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser) rs879255144
NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr) rs879255145
NM_000527.5(LDLR):c.2132G>C (p.Cys711Ser) rs879255145
NM_000527.5(LDLR):c.2132G>T (p.Cys711Phe) rs879255145
NM_000527.5(LDLR):c.2133C>A (p.Cys711Ter) rs879255146
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+1G>C rs145787161
NM_000527.5(LDLR):c.2140+1G>T rs145787161
NM_000527.5(LDLR):c.2140+2T>A rs879255147
NM_000527.5(LDLR):c.2140+2T>C rs879255147
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2140+86C>G rs587776886
NM_000527.5(LDLR):c.2140+9C>T rs879255148
NM_000527.5(LDLR):c.2140G>A (p.Glu714Lys) rs869320652
NM_000527.5(LDLR):c.2140G>C (p.Glu714Gln) rs869320652
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.5(LDLR):c.214del (p.Asp72fs) rs879254438
NM_000527.5(LDLR):c.2150C>G (p.Ala717Gly) rs879255150
NM_000527.5(LDLR):c.2155G>C (p.Val719Leu) rs879255151
NM_000527.5(LDLR):c.2164C>T (p.Gln722Ter)
NM_000527.5(LDLR):c.2167del (p.Glu723fs) rs879255153
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile) rs879255154
NM_000527.5(LDLR):c.2175del (p.Thr726fs) rs879255155
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2178del (p.Val727fs) rs879255156
NM_000527.5(LDLR):c.2184del (p.Arg728fs) rs879255157
NM_000527.5(LDLR):c.2186dup (p.Val731fs) rs879255158
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs) rs879255159
NM_000527.5(LDLR):c.2191_2203dup (p.Ala735fs) rs879255160
NM_000527.5(LDLR):c.2191del (p.Val731fs) rs879255161
NM_000527.5(LDLR):c.2198C>T (p.Ser733Phe) rs879255162
NM_000527.5(LDLR):c.2201_2202del (p.Thr734fs) rs879255163
NM_000527.5(LDLR):c.2207dup (p.Arg737fs) rs879255164
NM_000527.5(LDLR):c.2209A>G (p.Arg737Gly) rs879255165
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2226del (p.Thr743fs) rs879255166
NM_000527.5(LDLR):c.2230del (p.Arg744fs) rs879255167
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.5(LDLR):c.225T>G (p.Cys75Trp) rs758927662
NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs) rs879255168
NM_000527.5(LDLR):c.2266del (p.Thr756fs) rs879255169
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_000527.5(LDLR):c.2296A>G (p.Thr766Ala) rs879255171
NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.5(LDLR):c.2297_2298del (p.Thr766fs) rs879255172
NM_000527.5(LDLR):c.2299del (p.Met767fs) rs879255174
NM_000527.5(LDLR):c.2308C>T (p.Gln770Ter) rs763625913
NM_000527.5(LDLR):c.230del (p.Gly77fs) rs879254440
NM_000527.5(LDLR):c.230dup (p.Arg78fs) rs879254440
NM_000527.5(LDLR):c.2311+1941_*1216dup
NM_000527.5(LDLR):c.2311+1G>A rs879255175
NM_000527.5(LDLR):c.2311+1G>C rs879255175
NM_000527.5(LDLR):c.2311+1G>T
NM_000527.5(LDLR):c.2311+2T>G rs879255176
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2317_2318insTA (p.Gly773fs) rs879255177
NM_000527.5(LDLR):c.2318del (p.Gly773fs) rs879255178
NM_000527.5(LDLR):c.2322_2342del (p.Asp774_Asn780del) rs879255179
NM_000527.5(LDLR):c.232del (p.Arg78fs) rs879254442
NM_000527.5(LDLR):c.2333_2334insC (p.Arg778fs)
NM_000527.5(LDLR):c.2343_2347del (p.Lys782fs) rs879255181
NM_000527.5(LDLR):c.2356A>T (p.Ser786Cys) rs730882114
NM_000527.5(LDLR):c.2360T>A (p.Val787Glu) rs879255182
NM_000527.5(LDLR):c.2364G>T (p.Arg788Ser) rs879255183
NM_000527.5(LDLR):c.236dup (p.Asn80fs) rs879254443
NM_000527.5(LDLR):c.2374A>T (p.Ile792Phe) rs761123215
NM_000527.5(LDLR):c.2384C>A (p.Pro795His) rs879255184
NM_000527.5(LDLR):c.2385del (p.Ile796fs) rs879255185
NM_000527.5(LDLR):c.2389+14G>A
NM_000527.5(LDLR):c.2389+1G>A rs879255186
NM_000527.5(LDLR):c.2389+1G>T rs879255186
NM_000527.5(LDLR):c.2389+2T>G rs879255188
NM_000527.5(LDLR):c.2389+2_2389+5delinsGGCCCCAT rs879255187
NM_000527.5(LDLR):c.2389+3A>C rs879255189
NM_000527.5(LDLR):c.2389+41C>A
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389+4dup rs879255190
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.2389+5G>T rs879255191
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2390-1G>A rs879255193
NM_000527.5(LDLR):c.2390-1G>C rs879255193
NM_000527.5(LDLR):c.2390-2A>G rs767790696
NM_000527.5(LDLR):c.2392CTC[1] (p.Leu799del) rs879255195
NM_000527.5(LDLR):c.2392_2400del (p.Leu798_Val800del) rs879255194
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg) rs879255196
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.5(LDLR):c.2399T>A (p.Val800Asp) rs879255199
NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs) rs879255198
NM_000527.5(LDLR):c.2403_2406del (p.Leu802fs) rs879255200
NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.5(LDLR):c.2408_2409dup (p.Leu804fs) rs879255202
NM_000527.5(LDLR):c.240C>A (p.Asn80Lys) rs879254444
NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg) rs879255204
NM_000527.5(LDLR):c.2416del (p.Val806fs) rs773618064
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2417T>A (p.Val806Asp) rs879255208
NM_000527.5(LDLR):c.2417_2418insG (p.Phe807fs) rs879255207
NM_000527.5(LDLR):c.2417_2418insGG (p.Phe807fs) rs879255207
NM_000527.5(LDLR):c.241C>A (p.Arg81Ser) rs730882078
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2420_2426del (p.Phe807fs) rs879255209
NM_000527.5(LDLR):c.242dup (p.Cys82fs) rs879254445
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter) rs879255212
NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter) rs121908032
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter) rs879255213
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs) rs387906302
NM_000527.5(LDLR):c.244T>G (p.Cys82Gly) rs879254447
NM_000527.5(LDLR):c.244del (p.Cys82fs) rs879254446
NM_000527.5(LDLR):c.2458_2466del (p.Ser820_Asn822del) rs879255214
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr) rs879254448
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe) rs879254448
NM_000527.5(LDLR):c.246C>A (p.Cys82Ter) rs875989891
NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp) rs879255215
NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
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.2478dup (p.Val827fs) rs747344293
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2482T>C (p.Tyr828His) rs879255218
NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser) rs28942085
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.2500_2502delinsC (p.Asp834fs) rs879255219
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.5(LDLR):c.2509del (p.His837fs)
NM_000527.5(LDLR):c.250C>T (p.Pro84Ser) rs879254449
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.2531G>A (p.Gly844Asp) rs121908037
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter) rs875989893
NM_000527.5(LDLR):c.2544dup (p.Ser849fs) rs879255222
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.5(LDLR):c.2546del (p.Pro848_Ser849insTer)
NM_000527.5(LDLR):c.2547+1G>A rs879255224
NM_000527.5(LDLR):c.2547+3G>C rs879255225
NM_000527.5(LDLR):c.2547+5G>C rs879255226
NM_000527.5(LDLR):c.2548-2A>G rs879255227
NM_000527.5(LDLR):c.2549G>A (p.Arg850Lys) rs879255228
NM_000527.5(LDLR):c.2552del (p.Gln851fs) rs879255229
NM_000527.5(LDLR):c.255G>T (p.Gln85His) rs879254450
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.260G>A (p.Trp87Ter) rs879254452
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter) rs199570811
NM_000527.5(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer) rs879254453
NM_000527.5(LDLR):c.264G>C (p.Arg88Ser) rs879254454
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
NM_000527.5(LDLR):c.265T>G (p.Cys89Gly) rs879254455
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr) rs875989894
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp) rs777640882
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.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.280G>T (p.Asp94Tyr) rs745776977
NM_000527.5(LDLR):c.283T>A (p.Cys95Ser) rs879254456
NM_000527.5(LDLR):c.283T>C (p.Cys95Arg) rs879254456
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.285C>A (p.Cys95Ter) rs139400379
NM_000527.5(LDLR):c.28T>A (p.Trp10Arg) rs879254386
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
NM_000527.5(LDLR):c.28_38del (p.Trp10fs) rs879254385
NM_000527.5(LDLR):c.291C>G (p.Asn97Lys) rs372845091
NM_000527.5(LDLR):c.292G>C (p.Gly98Arg) rs750474121
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.5(LDLR):c.296_297del (p.Gly98_Ser99insTer) rs879254458
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.299A>G (p.Asp100Gly) rs879254460
NM_000527.5(LDLR):c.301G>T (p.Glu101Ter) rs144172724
NM_000527.5(LDLR):c.301del (p.Glu101fs) rs879254461
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.310T>C (p.Cys104Arg) rs879254464
NM_000527.5(LDLR):c.310_313del (p.Cys104fs) rs879254463
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe) rs875989895
NM_000527.5(LDLR):c.312T>G (p.Cys104Trp) rs879254465
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+1G>T rs112029328
NM_000527.5(LDLR):c.313+1dup rs879254466
NM_000527.5(LDLR):c.313+2T>A rs793888517
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.313+5G>T rs879254467
NM_000527.5(LDLR):c.313+6T>C rs879254468
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.314-3C>T rs879254469
NM_000527.5(LDLR):c.314-446_1187-386dup
NM_000527.5(LDLR):c.316_336del (p.Pro106_Asp112del) rs879254472
NM_000527.5(LDLR):c.318dup (p.Lys107fs) rs875989898
NM_000527.5(LDLR):c.320_332del (p.Lys107fs)
NM_000527.5(LDLR):c.320dup (p.Thr108fs) rs879254475
NM_000527.5(LDLR):c.323C>T (p.Thr108Met) rs750126678
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.325_337del (p.Cys109fs) rs879254477
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.326G>C (p.Cys109Ser) rs121908042
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.5(LDLR):c.327dup (p.Ser110fs) rs879254478
NM_000527.5(LDLR):c.335_344del (p.Asp112fs) rs879254479
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.338_353del (p.Glu113fs) rs879254480
NM_000527.5(LDLR):c.339dup (p.Phe114fs) rs879254481
NM_000527.5(LDLR):c.33_36dup (p.Ala13fs) rs879254387
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg) rs879254482
NM_000527.5(LDLR):c.347G>T (p.Cys116Phe) rs879254485
NM_000527.5(LDLR):c.347_349del (p.Cys116_His117delinsTyr) rs879254483
NM_000527.5(LDLR):c.347_367del (p.Cys116_Ile122del) rs879254484
NM_000527.5(LDLR):c.349C>T (p.His117Tyr) rs879254486
NM_000527.5(LDLR):c.350_372dup (p.Gln125fs) rs879254487
NM_000527.5(LDLR):c.353del (p.Asp118fs) rs879254488
NM_000527.5(LDLR):c.354_356del (p.Asp118_Gly119delinsGlu) rs879254489
NM_000527.5(LDLR):c.356_362del (p.Gly119fs) rs879254490
NM_000527.5(LDLR):c.357del (p.Lys120fs) rs879254491
NM_000527.5(LDLR):c.361T>A (p.Cys121Ser) rs879254492
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.5(LDLR):c.361T>G (p.Cys121Gly) rs879254492
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr) rs193922571
NM_000527.5(LDLR):c.362G>C (p.Cys121Ser) rs193922571
NM_000527.5(LDLR):c.362G>T (p.Cys121Phe) rs193922571
NM_000527.5(LDLR):c.364A>T (p.Ile122Phe) rs879254493
NM_000527.5(LDLR):c.366dup (p.Ser123fs) rs879254494
NM_000527.5(LDLR):c.367T>A (p.Ser123Thr) rs879254495
NM_000527.5(LDLR):c.369_370del (p.Arg124fs) rs879254496
NM_000527.5(LDLR):c.369_393del (p.Arg124fs) rs879254497
NM_000527.5(LDLR):c.370C>G (p.Arg124Gly) rs879254498
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp) rs879254498
NM_000527.5(LDLR):c.371_372insC (p.Gln125fs) rs879254499
NM_000527.5(LDLR):c.373C>A (p.Gln125Lys) rs875989899
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter) rs875989899
NM_000527.5(LDLR):c.374_375insCTGA (p.Gln125delinsHisTer) rs879254500
NM_000527.5(LDLR):c.376T>C (p.Phe126Leu) rs879254501
NM_000527.5(LDLR):c.377T>A (p.Phe126Tyr) rs879254502
NM_000527.5(LDLR):c.380T>A (p.Val127Asp) rs879254503
NM_000527.5(LDLR):c.382T>C (p.Cys128Arg) rs879254505
NM_000527.5(LDLR):c.382_385del (p.Cys128fs) rs879254504
NM_000527.5(LDLR):c.383G>T (p.Cys128Phe) rs879254506
NM_000527.5(LDLR):c.386A>G (p.Asp129Gly) rs879254507
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr) rs879254508
NM_000527.5(LDLR):c.388T>C (p.Ser130Pro) rs879254508
NM_000527.5(LDLR):c.389C>G (p.Ser130Ter) rs879254509
NM_000527.5(LDLR):c.389dup (p.Asp131fs) rs879254510
NM_000527.5(LDLR):c.391G>C (p.Asp131His) rs879254511
NM_000527.5(LDLR):c.397G>A (p.Asp133Asn) rs879254513
NM_000527.5(LDLR):c.397dup (p.Asp133fs) rs879254512
NM_000527.5(LDLR):c.3G>T (p.Met1Ile) rs879254383
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>G (p.Cys134Trp) rs879254515
NM_000527.5(LDLR):c.407A>T (p.Asp136Val) rs879254516
NM_000527.5(LDLR):c.409G>T (p.Gly137Cys) rs730882082
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)
NM_000527.5(LDLR):c.415G>C (p.Asp139His) rs879254517
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.5(LDLR):c.416A>T (p.Asp139Val) rs879254518
NM_000527.5(LDLR):c.417C>G (p.Asp139Glu) rs537484504
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.419A>G (p.Glu140Gly) rs879254519
NM_000527.5(LDLR):c.41del (p.Leu14fs) rs879254388
NM_000527.5(LDLR):c.41dup (p.Leu14fs) rs879254388
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.424_430del (p.Ser142fs) rs879254521
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.431_434dup (p.Leu146fs) rs879254523
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
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.443G>C (p.Cys148Ser) rs879254526
NM_000527.5(LDLR):c.444T>G (p.Cys148Trp) rs879254528
NM_000527.5(LDLR):c.445G>T (p.Gly149Cys) rs879254529
NM_000527.5(LDLR):c.44T>A (p.Leu15His) rs879254390
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.450dup (p.Ala151fs) rs879254530
NM_000527.5(LDLR):c.451G>A (p.Ala151Thr) rs763233960
NM_000527.5(LDLR):c.451_453del (p.Ala151del) rs879254531
NM_000527.5(LDLR):c.457T>G (p.Phe153Val) rs879254532
NM_000527.5(LDLR):c.458T>G (p.Phe153Cys) rs879254533
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg) rs879254535
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.464G>T (p.Cys155Phe) rs879254536
NM_000527.5(LDLR):c.465C>A (p.Cys155Ter) rs766094434
NM_000527.5(LDLR):c.466_484dup (p.Pro162fs) rs879254537
NM_000527.5(LDLR):c.472del (p.Ser158fs) rs879254538
NM_000527.5(LDLR):c.473C>G (p.Ser158Cys) rs763998635
NM_000527.5(LDLR):c.476C>T (p.Thr159Ile) rs879254539
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.5(LDLR):c.478T>G (p.Cys160Gly) rs879254540
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
NM_000527.5(LDLR):c.47T>C (p.Leu16Pro) rs879254391
NM_000527.5(LDLR):c.482_488del (p.Ile161fs) rs879254542
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.493T>G (p.Trp165Gly) rs879254545
NM_000527.5(LDLR):c.495G>A (p.Trp165Ter) rs879254546
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg) rs879254547
NM_000527.5(LDLR):c.4G>A (p.Gly2Arg) rs5931
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr) rs879254548
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.501C>G (p.Cys167Trp) rs752596535
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.506A>T (p.Asn169Ile) rs879254550
NM_000527.5(LDLR):c.508_509insC (p.Asp170fs) rs879254551
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.515A>G (p.Asp172Gly) rs879254555
NM_000527.5(LDLR):c.516C>G (p.Asp172Glu) rs879254557
NM_000527.5(LDLR):c.516_524dup (p.Cys173_Asp175dup) rs879254556
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.5(LDLR):c.517T>G (p.Cys173Gly) rs879254558
NM_000527.5(LDLR):c.518G>A (p.Cys173Tyr) rs879254560
NM_000527.5(LDLR):c.518del (p.Cys173fs) rs879254559
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.523G>T (p.Asp175Tyr) rs121908033
NM_000527.5(LDLR):c.525_536del (p.Asp175_Asp178del) rs879254561
NM_000527.5(LDLR):c.526_533dup (p.Asp178fs) rs879254562
NM_000527.5(LDLR):c.527G>T (p.Gly176Val) rs879254563
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.532G>A (p.Asp178Asn) rs879254565
NM_000527.5(LDLR):c.532G>C (p.Asp178His) rs879254565
NM_000527.5(LDLR):c.532G>T (p.Asp178Tyr) rs879254565
NM_000527.5(LDLR):c.532_533insT (p.Asp178fs) rs879254564
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.5(LDLR):c.533A>T (p.Asp178Val) rs875989902
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.535G>A (p.Glu179Lys) rs879254567
NM_000527.5(LDLR):c.535G>T (p.Glu179Ter) rs879254567
NM_000527.5(LDLR):c.536A>G (p.Glu179Gly) rs879254568
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.550T>C (p.Cys184Arg) rs879254572
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.552T>G (p.Cys184Trp) rs879254571
NM_000527.5(LDLR):c.557del (p.Gly186fs) rs879254573
NM_000527.5(LDLR):c.558_559insG (p.Leu187fs) rs879254574
NM_000527.5(LDLR):c.561_562del (p.Tyr188fs) rs879254575
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.565G>A (p.Val189Met) rs370820135
NM_000527.5(LDLR):c.568_590del (p.Phe190fs) rs879254577
NM_000527.5(LDLR):c.56C>A (p.Ala19Glu) rs879254392
NM_000527.5(LDLR):c.56C>T (p.Ala19Val) rs879254392
NM_000527.5(LDLR):c.571C>T (p.Gln191Ter)
NM_000527.5(LDLR):c.578_584del (p.Asp193fs) rs879254579
NM_000527.5(LDLR):c.578del (p.Asp193fs) rs879254580
NM_000527.5(LDLR):c.581_582insA (p.Ser194fs) rs879254581
NM_000527.5(LDLR):c.583_589del (p.Ser195fs) rs879254582
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>A (p.Cys197Ter) rs879254584
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.5(LDLR):c.593C>A (p.Ser198Ter) rs748672083
NM_000527.5(LDLR):c.598T>A (p.Phe200Ile) rs879254585
NM_000527.5(LDLR):c.599T>G (p.Phe200Cys) rs879254586
NM_000527.5(LDLR):c.600C>A (p.Phe200Leu) rs879254587
NM_000527.5(LDLR):c.600del (p.Phe200fs) rs879254588
NM_000527.5(LDLR):c.601G>A (p.Glu201Lys) rs879254589
NM_000527.5(LDLR):c.605T>C (p.Phe202Ser) rs879254590
NM_000527.5(LDLR):c.609del (p.Cys204fs) rs879254591
NM_000527.5(LDLR):c.611G>A (p.Cys204Tyr) rs879254592
NM_000527.5(LDLR):c.611G>C (p.Cys204Ser) rs879254592
NM_000527.5(LDLR):c.611G>T (p.Cys204Phe) rs879254592
NM_000527.5(LDLR):c.616dup (p.Ser206fs) rs879254593
NM_000527.5(LDLR):c.617del (p.Ser206fs) rs879254594
NM_000527.5(LDLR):c.618T>G (p.Ser206Arg) rs879254595
NM_000527.5(LDLR):c.619_639del (p.Gly207_Ser213del) rs879254596
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.623_644del (p.Glu208fs) rs879254598
NM_000527.5(LDLR):c.625_626dup (p.Ile210fs) rs879254599
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn) rs879254601
NM_000527.5(LDLR):c.631C>G (p.His211Asp) rs771917370
NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro) rs879254602
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.5(LDLR):c.641G>C (p.Trp214Ser) rs879254605
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter) rs879254606
NM_000527.5(LDLR):c.643C>A (p.Arg215Ser) rs764042910
NM_000527.5(LDLR):c.643_644insATCCACTCAGCTGGC (p.Trp214_Arg215insHisProLeuSerTrp) rs879254607
NM_000527.5(LDLR):c.645_646del (p.Arg215_Cys216insTer) rs879254608
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.5(LDLR):c.646del (p.Cys216fs) rs879254609
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.647G>T (p.Cys216Phe) rs879254611
NM_000527.5(LDLR):c.648_649del (p.Cys216_Asp217delinsTer) rs879254612
NM_000527.5(LDLR):c.648_656del (p.Asp217_Gly219del) rs879254613
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.649_650insT (p.Asp217fs) rs879254614
NM_000527.5(LDLR):c.64del (p.Ala22fs) rs879254393
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.655_657del (p.Gly219del) rs879254616
NM_000527.5(LDLR):c.656_661del (p.Gly219_Pro220del) rs879254617
NM_000527.5(LDLR):c.657_661dup (p.Asp221fs) rs879254358
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_673dup (p.Lys225fs) rs1555803428
NM_000527.5(LDLR):c.661_677del (p.Pro220_Asp221insTer) rs879254619
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.662A>T (p.Asp221Val) rs373822756
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.5(LDLR):c.664T>G (p.Cys222Gly) rs577934998
NM_000527.5(LDLR):c.664_681delinsCCGACTG (p.Cys222fs) rs879254622
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.5(LDLR):c.666C>A (p.Cys222Ter) rs756613387
NM_000527.5(LDLR):c.666C>G (p.Cys222Trp) rs756613387
NM_000527.5(LDLR):c.666_687del (p.Asp221_Cys222insTer) rs879254623
NM_000527.5(LDLR):c.667_693del (p.Lys223_Cys231del) rs879254624
NM_000527.5(LDLR):c.668_681dup (p.Glu228fs) rs1555803424
NM_000527.5(LDLR):c.669G>C (p.Lys223Asn) rs879254627
NM_000527.5(LDLR):c.669_679dup (p.Asp227fs) rs879254625
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer) rs879254626
NM_000527.5(LDLR):c.67+2T>A rs879254394
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.670_675delinsTTT (p.Asp224_Lys225delinsPhe) rs879254628
NM_000527.5(LDLR):c.670dup (p.Asp224fs) rs879254629
NM_000527.5(LDLR):c.671A>C (p.Asp224Ala) rs879254630
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) rs879254630
NM_000527.5(LDLR):c.671A>T (p.Asp224Val) rs879254630
NM_000527.5(LDLR):c.672_683dup (p.Asp224_Asp227dup) rs1555803414
NM_000527.5(LDLR):c.673_681dup (p.Lys225_Asp227dup)
NM_000527.5(LDLR):c.673_682delinsTGCAA (p.Lys225fs) rs879254631
NM_000527.5(LDLR):c.675_681dup (p.Glu228delinsIleTer) rs1555803426
NM_000527.5(LDLR):c.675_689del (p.Lys225_Glu229del) rs879254632
NM_000527.5(LDLR):c.675del (p.Lys225fs) rs879254633
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.5(LDLR):c.676_684dup (p.Ser226_Glu228dup) rs879254634
NM_000527.5(LDLR):c.677C>G (p.Ser226Cys) rs879254636
NM_000527.5(LDLR):c.68-1G>C rs879254397
NM_000527.5(LDLR):c.68-2A>G
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.68-5_68-2del rs879254395
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.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.681_682insTGAG (p.Glu228Ter) rs1555803427
NM_000527.5(LDLR):c.681_683del (p.Asp227del) rs879254639
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.682delinsTGCA (p.Glu228delinsCysLys) rs879254641
NM_000527.5(LDLR):c.683A>C (p.Glu228Ala) rs879254642
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>G (p.Cys231Trp) rs121908035
NM_000527.5(LDLR):c.693_694+20del rs879254645
NM_000527.5(LDLR):c.694+1G>A rs879254646
NM_000527.5(LDLR):c.694+1G>T rs879254646
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.694+4dup rs879254647
NM_000527.5(LDLR):c.694+8_694+18dup rs777512182
NM_000527.5(LDLR):c.694_695del (p.Ala232fs)
NM_000527.5(LDLR):c.695-13T>C rs879254650
NM_000527.5(LDLR):c.695-1G>T rs879254652
NM_000527.5(LDLR):c.695-356_940+1059del
NM_000527.5(LDLR):c.695-67_1586+371del
NM_000527.5(LDLR):c.695-6_698del rs879254651
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.703dup (p.Thr235fs) rs1555803643
NM_000527.5(LDLR):c.705_791del (p.Cys236_Met264del) rs1555803644
NM_000527.5(LDLR):c.705dup (p.Cys236fs) rs879254653
NM_000527.5(LDLR):c.706T>C (p.Cys236Arg) rs879254655
NM_000527.5(LDLR):c.708dup (p.Arg237fs) rs879254656
NM_000527.5(LDLR):c.718G>T (p.Glu240Ter) rs768563000
NM_000527.5(LDLR):c.722T>C (p.Phe241Ser) rs748131256
NM_000527.5(LDLR):c.724C>T (p.Gln242Ter) rs879254658
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.737G>A (p.Gly246Glu) rs879254661
NM_000527.5(LDLR):c.737del (p.Gly246fs) rs879254660
NM_000527.5(LDLR):c.742T>G (p.Cys248Gly) rs879254662
NM_000527.5(LDLR):c.743G>A (p.Cys248Tyr) rs879254663
NM_000527.5(LDLR):c.743G>T (p.Cys248Phe) rs879254663
NM_000527.5(LDLR):c.744C>A (p.Cys248Ter) rs879254664
NM_000527.5(LDLR):c.750T>C (p.His250=) rs141929940
NM_000527.5(LDLR):c.752dup (p.Ser252fs) rs879254666
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.758G>C (p.Arg253Pro) rs139507589
NM_000527.5(LDLR):c.760C>T (p.Gln254Ter) rs759109699
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.762G>T (p.Gln254His) rs764526789
NM_000527.5(LDLR):c.762_763inv (p.Cys255Arg)
NM_000527.5(LDLR):c.763T>A (p.Cys255Ser) rs879254668
NM_000527.5(LDLR):c.763T>C (p.Cys255Arg) rs879254668
NM_000527.5(LDLR):c.763T>G (p.Cys255Gly) rs879254668
NM_000527.5(LDLR):c.764G>A (p.Cys255Tyr) rs879254669
NM_000527.5(LDLR):c.767A>G (p.Asp256Gly) rs879254670
NM_000527.5(LDLR):c.768C>G (p.Asp256Glu) rs879254671
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.76A>T (p.Arg26Ter) rs879254398
NM_000527.5(LDLR):c.76del (p.Arg26fs) rs879254399
NM_000527.5(LDLR):c.770G>T (p.Arg257Leu) rs757808215
NM_000527.5(LDLR):c.772G>A (p.Glu258Lys) rs879254672
NM_000527.5(LDLR):c.776_777del (p.Glu258_Tyr259insTer) rs879254673
NM_000527.5(LDLR):c.77_78del (p.Arg26fs) rs879254400
NM_000527.5(LDLR):c.781del (p.Cys261fs) rs879254674
NM_000527.5(LDLR):c.790A>G (p.Met264Val) rs730882088
NM_000527.5(LDLR):c.790_793del (p.Met264fs) rs879254675
NM_000527.5(LDLR):c.793A>T (p.Ser265Cys) rs879254676
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr) rs875989907
NM_000527.5(LDLR):c.796_799del (p.Asp266fs) rs879254677
NM_000527.5(LDLR):c.797A>G (p.Asp266Gly) rs879254678
NM_000527.5(LDLR):c.797A>T (p.Asp266Val) rs879254678
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.5(LDLR):c.800A>C (p.Glu267Ala) rs879254680
NM_000527.5(LDLR):c.801A>T (p.Glu267Asp) rs879254681
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.808T>A (p.Cys270Ser) rs879254682
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
NM_000527.5(LDLR):c.810C>A (p.Cys270Ter) rs773328511
NM_000527.5(LDLR):c.814_817del (p.Val271_Asn272insTer) rs879254684
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr) rs202213054
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.817+2T>C rs879254686
NM_000527.5(LDLR):c.818-1G>A rs879254688
NM_000527.5(LDLR):c.818-2A>G
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.820A>T (p.Thr274Ser) rs879254690
NM_000527.5(LDLR):c.820_827del (p.Thr274fs) rs879254689
NM_000527.5(LDLR):c.825_826del (p.Cys276fs) rs879254691
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.5(LDLR):c.826T>G (p.Cys276Gly) rs879254692
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr) rs730882089
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) rs551747280
NM_000527.5(LDLR):c.850T>A (p.Cys284Ser) rs879254693
NM_000527.5(LDLR):c.850T>C (p.Cys284Arg) rs879254693
NM_000527.5(LDLR):c.850T>G (p.Cys284Gly) rs879254693
NM_000527.5(LDLR):c.851G>C (p.Cys284Ser) rs879254694
NM_000527.5(LDLR):c.855C>A (p.His285Gln) rs879254695
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.85A>T (p.Arg29Ter) rs879254401
NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.5(LDLR):c.865del (p.Cys289fs) rs879254696
NM_000527.5(LDLR):c.869T>G (p.Ile290Ser) rs879254699
NM_000527.5(LDLR):c.869_871dup (p.Ile290dup) rs879254698
NM_000527.5(LDLR):c.874del (p.Leu292fs) rs879254700
NM_000527.5(LDLR):c.875dup (p.Asp293fs) rs879254701
NM_000527.5(LDLR):c.877del (p.Asp293fs) rs879254702
NM_000527.5(LDLR):c.880A>G (p.Lys294Glu) rs879254703
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) rs879254704
NM_000527.5(LDLR):c.884del (p.Val295fs) rs879254705
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.887_889delinsAGC (p.Cys296_Asn297delinsTer) rs879254706
NM_000527.5(LDLR):c.888C>A (p.Cys296Ter) rs879254708
NM_000527.5(LDLR):c.890del (p.Asn297fs) rs879254710
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.896del (p.Ala299fs) rs879254712
NM_000527.5(LDLR):c.898A>T (p.Arg300Ter) rs767618089
NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr) rs879254713
NM_000527.5(LDLR):c.902A>C (p.Asp301Ala) rs879254714
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp) rs879254716
NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr) rs121908030
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.914G>C (p.Trp305Ser) rs879254717
NM_000527.5(LDLR):c.915G>A (p.Trp305Ter) rs757252110
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys) rs757252110
NM_000527.5(LDLR):c.916_919dup (p.Asp307fs) rs879254718
NM_000527.5(LDLR):c.917C>A (p.Ser306Ter) rs11547917
NM_000527.5(LDLR):c.917C>G (p.Ser306Ter) rs11547917
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
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.921T>G (p.Asp307Glu) rs879254720
NM_000527.5(LDLR):c.922G>A (p.Glu308Lys) rs879254721
NM_000527.5(LDLR):c.925_931del (p.Pro309fs) rs387906304
NM_000527.5(LDLR):c.929T>C (p.Ile310Thr) 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.933del (p.Glu312fs) rs879254723
NM_000527.5(LDLR):c.934G>T (p.Glu312Ter) rs879254725
NM_000527.5(LDLR):c.935_936del (p.Glu312fs)
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.5(LDLR):c.937T>G (p.Cys313Gly) rs879254728
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.939_940+3del rs879254727
NM_000527.5(LDLR):c.93_99del (p.Glu31fs) rs879254402
NM_000527.5(LDLR):c.940+14del rs879254730
NM_000527.5(LDLR):c.940+1G>A rs879254729
NM_000527.5(LDLR):c.940+1G>C rs879254729
NM_000527.5(LDLR):c.940+2T>A rs875989912
NM_000527.5(LDLR):c.940+2T>C rs875989912
NM_000527.5(LDLR):c.940+845_1186+531del
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-13T>A rs879254733
NM_000527.5(LDLR):c.941-14dup rs879254732
NM_000527.5(LDLR):c.941-1G>A rs879254735
NM_000527.5(LDLR):c.941-2A>C rs112366278
NM_000527.5(LDLR):c.941-2A>G rs112366278
NM_000527.5(LDLR):c.941-38C>T rs879254731
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.946_994del (p.Asn316fs) rs879254736
NM_000527.5(LDLR):c.947A>C (p.Asn316Thr) rs730882094
NM_000527.5(LDLR):c.949G>T (p.Glu317Ter) rs746834464
NM_000527.5(LDLR):c.951del (p.Glu317fs) rs879254737
NM_000527.5(LDLR):c.952T>C (p.Cys318Arg) rs879254738
NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr) rs879254739
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.95T>G (p.Phe32Cys) rs879254403
NM_000527.5(LDLR):c.961AAC[1] (p.Asn322del)
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.968del (p.Gly323fs) rs879254743
NM_000527.5(LDLR):c.969del (p.Gly324fs) rs879254744
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.971del (p.Gly324fs) rs879254745
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_000527.5(LDLR):c.977C>T (p.Ser326Phe) rs879254747
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_000527.5(LDLR):c.980dup (p.His327fs) rs879254748
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly) rs879254749
NM_000527.5(LDLR):c.986G>T (p.Cys329Phe) rs761954844
NM_000527.5(LDLR):c.99del (p.Gln33fs) rs879254404
NM_000527.5(LDLR):c.9del (p.Trp4fs) rs879254384
NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup
NM_000527.5:c.(67+1_68-1)_(1845+1_1846-1)del
c.(1060+1_1061-1)_(1186+1_1187-1)del
c.(1060+1_1061-1)_(1586+1_1587-1)dup
c.(1060+1_1061-1)_(1845+1_1846-1)del
c.(1186+1_1187-1)_(*2514_?)del
c.(1186+1_1187-1)_(1358+1_1359-1)del
c.(1186+1_1187-1)_(1358+1_1359-1)dup
c.(1186+1_1187-1)_(1586+1_1587-1)dup
c.(1186+1_1187-1)_(1845+1_1846-1)del
c.(1186+1_1187-1)_(1845+1_1846-1)dup
c.(1186+1_1187-1)_(2140+1_2141-1)del
c.(1186+1_1187-1)_(2140+1_2141-1)dup
c.(1586+1_1587-1)_(*2514_?)del
c.(1586+1_1587-1)_(1705+1_1706-1)del
c.(1586+1_1587-1)_(1845+1_1846-1)del
c.(1586+1_1587-1)_(1845+1_1846-1)dup
c.(1586+1_1587-1)_(2140+1_2141-1)del
c.(1586+1_1587-1)_(2140+1_2141-1)dup
c.(1586+1_1587-1)_(2311+1_2312-1)del
c.(1586+1_1587-1)_(2389+1_2390-1)del
c.(1586+1_1587-1)_(2547+1_2548-1)del
c.(1705+1_1706-1)_(*2514_?)del
c.(1705+1_1706-1)_(1845+1_1846-1)del
c.(1705+1_1706-1)_(1845+1_1846-1)dup
c.(1705+1_1706-1)_(2389+1_2390-1)del
c.(1845+1_1846-1)_(*2514_?)del
c.(1845+1_1846-1)_(2140+1_2141-1)dup
c.(1845+1_1846-1)_(2311+1_2312-1)del
c.(190+1_191-1)_(1060+1_1061-1)del
c.(190+1_191-1)_(1186+1_1187-1)dup
c.(190+1_191-1)_(1586+1_1587-1)del
c.(190+1_191-1)_(1845+1_1846-1)del
c.(190+1_191-1)_(1845+1_1846-1)dup
c.(190+1_191-1)_(2140+1_2141-1)dup
c.(190+1_191-1)_(313+1_314-1)del
c.(190+1_191-1)_(694+1_695-1)del
c.(190+1_191-1)_(694+1_695-1)dup
c.(190+1_191-1)_(817+1_818-1)del
c.(190+1_191-1)_(940+1_941-1)del
c.(190+1_191-1)_(940+1_941-1)dup
c.(1987+1_1988-1)_(2311+1_2312-1)del
c.(2140+1_2141-1)_(*2514_?)del
c.(2311+1_2312-1)_(*220_?)del
c.(2311+1_2312-1)_(*2514_?)del
c.(2311+1_2312-1)_(2389+1_2390-1)del
c.(2311+1_2312-1)_(2547+1_2548-1)dup
c.(2311+1_2312-1)_*807del
c.(2389+1_2390-1)_(*2514_?)del
c.(313+1_314-1)_(1186+1_1187-1)dup
c.(313+1_314-1)_(694+1_695-1)del
c.(313+1_314-1)_(817+1_818-1)dup
c.(313+1_314-1)_(940+1_941-1)dup
c.(67+1_68-1)_(1586+1_1587-1)del
c.(67+1_68-1)_(1705+1_1706-1)del
c.(67+1_68-1)_(190+1_191-1)del
c.(67+1_68-1)_(2140+1_2141-1)del
c.(67+1_68-1)_(2311+1_2312-1)dup
c.(67+1_68-1)_(2547+1_2548-1)del
c.(67+1_68-1)_(694+1_695-1)del
c.(67+1_68-1)_(817+1_818-1)del
c.(67+1_68-1)_(817+1_818-1)dup
c.(694+1_695-1)_(1586+1_1587-1)del
c.(694+1_695-1)_(940+1_941-1)del
c.(817+1_818-1)_(*2514_?)del
c.(817+1_818-1)_(1186+1_1187-1)del
c.(817+1_818-1)_(940+1_941-1)del
c.(940+1_941-1)_(*2514_?)dup
c.(940+1_941-1)_(1060+1_1061-1)del
c.(940+1_941-1)_(1186+1_1187-1)dup
c.(940+1_941-1)_(1586+1_1587-1)del
c.(940+1_941-1)_(1586+1_1587-1)dup
c.(940+1_941-1)_(1845+1_1846-1)del
c.(940+1_941-1)_(1845+1_1846-1)dup
c.(940+1_941-1)_(2140+1_2141-1)del
c.(940+1_941-1)_(2311+1_2312-1)del
c.(?_-187)_(1060+1_1061-1)del
c.(?_-187)_(1186+1_1187-1)del
c.(?_-187)_(1845+1_1846-1)del
c.(?_-187)_(190+1_191-1)del
c.(?_-187)_(2140+1_2141-1)del
c.(?_-187)_(2311+1_2312-1)del
c.(?_-187)_(67+1_68-1)del
c.(?_-187)_(67+1_68-1)dup
c.(?_-187)_(940+1_941-1)del
c.(?_-187)_*2584del
c.67+4761_818-332del
c.941-2966_*2583+4485del

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