ClinVar Miner

List of variants in gene LDLR studied for Hypercholesterolemia, familial, 1

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ClinVar version:
Total variants: 2940
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2312-136A>G rs2569538 0.86836
NM_000527.5(LDLR):c.*1262T>C rs2915966 0.82752
NM_000527.5(LDLR):c.*315G>C rs2738464 0.80309
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65878
NM_000527.5(LDLR):c.*666T>C rs1433099 0.65588
NM_000527.5(LDLR):c.1706-55A>C rs2738447 0.65266
NM_000527.5(LDLR):c.1705+182C>T rs2738445 0.58403
NM_000527.5(LDLR):c.*1216dup rs34113544 0.56429
NM_000527.5(LDLR):c.1586+53A>G rs1569372 0.41767
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.*1268C>T rs2978615 0.36542
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000527.5(LDLR):c.*1743C>T rs2738467 0.32777
NM_000527.5(LDLR):c.*504G>A rs2738465 0.29077
NM_000527.5(LDLR):c.*1453A>G rs5742911 0.26927
NM_000527.5(LDLR):c.*1600G>T rs17249064 0.22753
NM_000527.5(LDLR):c.*773A>G rs2738466 0.22642
NM_000527.5(LDLR):c.2548-80G>A rs2116897 0.22593
NM_000527.5(LDLR):c.*1510T>C rs17249057 0.22584
NM_000527.5(LDLR):c.*52G>A rs14158 0.22552
NM_000527.5(LDLR):c.*1336C>G rs72658877 0.22138
NM_000527.5(LDLR):c.*1376T>C rs55903358 0.22087
NM_000527.5(LDLR):c.2548-147G>A rs2116898 0.22073
NM_000527.5(LDLR):c.*1168G>A rs17242683 0.22045
NM_000527.5(LDLR):c.1705+56C>T rs4508523 0.21747
NM_000527.5(LDLR):c.*1419C>A rs55971831 0.21209
NM_000527.5(LDLR):c.1705+209C>T rs7248981 0.21143
NM_000527.5(LDLR):c.*1354T>C rs7258146 0.18343
NM_000527.4(LDLR):c.-2038C>T rs17248720 0.16494
NM_000527.5(LDLR):c.*1430C>T rs7254521 0.13116
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.*141G>A rs3826810 0.06460
NM_000527.5(LDLR):c.314-50T>C rs10423288 0.06015
NM_000527.5(LDLR):c.940+36G>A rs13306513 0.03637
NM_000527.5(LDLR):c.1060+109T>G rs10401667 0.03443
NM_000527.5(LDLR):c.*2016G>A rs72658879 0.03308
NM_000527.5(LDLR):c.*1332G>A rs10415069 0.03144
NM_000527.5(LDLR):c.*982G>C rs10409044 0.03142
NM_000527.5(LDLR):c.*2054G>A rs28398082 0.03101
NM_000527.5(LDLR):c.*1417A>C rs72658878 0.01310
NM_000527.5(LDLR):c.*803C>T rs17242677 0.01212
NM_000527.5(LDLR):c.2312-47G>A rs41306974 0.01134
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_000527.5(LDLR):c.*1340C>A rs186461273 0.00951
NM_000527.5(LDLR):c.*1550A>T rs143587805 0.00878
NC_000019.10:g.11089281G>T rs17249134 0.00679
NM_000527.5(LDLR):c.2389+57C>T rs145293532 0.00605
NM_000527.5(LDLR):c.*2111G>A rs148054434 0.00508
NM_000527.5(LDLR):c.*1960C>T rs8108932 0.00395
NM_000527.5(LDLR):c.*1292C>T rs556381931 0.00379
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.*2319C>G rs72658880 0.00326
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00260
NM_000527.5(LDLR):c.*13A>G rs72658871 0.00255
NM_000527.5(LDLR):c.*338G>A rs17249029 0.00235
NM_000527.5(LDLR):c.*517C>A rs115882455 0.00227
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.*1173G>C rs17249379 0.00217
NM_000527.5(LDLR):c.1545C>T (p.Asn515=) rs147896205 0.00183
NM_000527.5(LDLR):c.*653G>C rs563911564 0.00167
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.*2004C>T rs539827046 0.00131
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.*1793A>C rs886054176 0.00099
NM_000527.5(LDLR):c.828C>T (p.Cys276=) rs146651743 0.00096
NM_000527.5(LDLR):c.1186+106G>A rs191859969 0.00092
NM_000527.5(LDLR):c.*1377G>A rs563300769 0.00078
NM_000527.5(LDLR):c.*2210T>C rs73925118 0.00070
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.*1227C>T rs72658875 0.00052
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_000527.5(LDLR):c.*1133G>C rs181377148 0.00048
NM_000527.5(LDLR):c.*1369C>T rs191796971 0.00045
NM_000527.5(LDLR):c.2055G>A (p.Pro685=) rs149126953 0.00040
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.*2365C>T rs886054188 0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.940+16G>A rs72658859 0.00028
NM_000527.5(LDLR):c.1056C>T (p.Cys352=) rs13306515 0.00026
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_000527.5(LDLR):c.*994C>T rs189408873 0.00022
NM_000527.5(LDLR):c.*1140G>A rs367606490 0.00019
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.*966G>A rs991614293 0.00015
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.*1256C>T rs886054172 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.2389+8C>T rs747170426 0.00011
NM_000527.5(LDLR):c.643C>T (p.Arg215Cys) rs764042910 0.00011
NM_000527.5(LDLR):c.68-18C>G rs370599334 0.00010
NM_000527.5(LDLR):c.*1167C>T rs1199016973 0.00009
NM_000527.5(LDLR):c.*2173T>C rs886054184 0.00009
NM_000527.5(LDLR):c.*2282G>C rs969781959 0.00009
NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys) rs879254934 0.00009
NM_000527.5(LDLR):c.1586+15C>T rs371716068 0.00009
NM_000527.5(LDLR):c.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.*1356C>T rs886054173 0.00007
NM_000527.5(LDLR):c.*1752G>A rs886054175 0.00007
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.*1762T>G rs550542566 0.00006
NM_000527.5(LDLR):c.*376C>A rs886054159 0.00006
NM_000527.5(LDLR):c.*533G>T rs771870462 0.00006
NM_000527.5(LDLR):c.*979C>T rs886054169 0.00006
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) rs749322464 0.00006
NM_000527.5(LDLR):c.108C>T (p.Asp36=) rs373144619 0.00006
NM_000527.5(LDLR):c.1428C>T (p.Pro476=) rs543392107 0.00006
NM_000527.5(LDLR):c.147C>T (p.Ser49=) rs138078086 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.1887C>T (p.Phe629=) rs751234870 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.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+23G>A rs770347398 0.00006
NM_000527.5(LDLR):c.2397C>T (p.Leu799=) rs367882846 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.681C>T (p.Asp227=) rs121908028 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000527.5(LDLR):c.*1269G>A rs573433655 0.00005
NM_000527.5(LDLR):c.*704G>A rs918417347 0.00005
NM_000527.5(LDLR):c.1671T>C (p.Thr557=) rs750643961 0.00005
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp) rs756864388 0.00005
NM_000527.5(LDLR):c.2427A>G (p.Leu809=) rs147191787 0.00005
NM_000527.5(LDLR):c.2574C>T (p.Asp858=) rs139757711 0.00005
NM_000527.5(LDLR):c.2577G>A (p.Val859=) rs201685587 0.00005
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_000527.5(LDLR):c.351C>T (p.His117=) rs200258458 0.00005
NM_000527.5(LDLR):c.660C>T (p.Pro220=) rs143002616 0.00005
NM_000527.5(LDLR):c.710G>A (p.Arg237His) rs148171426 0.00005
NM_000527.5(LDLR):c.861C>T (p.Gly287=) rs770191650 0.00005
NM_000527.5(LDLR):c.*1895A>T rs886054179 0.00004
NM_000527.5(LDLR):c.*1961G>A rs567179124 0.00004
NM_000527.5(LDLR):c.*287C>A rs907221420 0.00004
NM_000527.5(LDLR):c.*808T>G rs562862170 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878 0.00004
NM_000527.5(LDLR):c.1358+7G>A rs369709333 0.00004
NM_000527.5(LDLR):c.1380C>T (p.His460=) rs768883894 0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.1713C>T (p.Leu571=) rs1015887338 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.190+34T>C rs758901876 0.00004
NM_000527.5(LDLR):c.1944C>T (p.Ser648=) rs774330316 0.00004
NM_000527.5(LDLR):c.1987+10G>T rs375846192 0.00004
NM_000527.5(LDLR):c.1988-13T>G rs200201131 0.00004
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.291C>T (p.Asn97=) rs372845091 0.00004
NM_000527.5(LDLR):c.434T>C (p.Val145Ala) rs776872913 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn) rs562712652 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.817+14A>G rs201875602 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NC_000019.10:g.11089263C>G rs989307060 0.00003
NM_000527.5(LDLR):c.*2251G>C rs886054187 0.00003
NM_000527.5(LDLR):c.*420C>A rs746014399 0.00003
NM_000527.5(LDLR):c.*584G>T rs772754135 0.00003
NM_000527.5(LDLR):c.*804G>A rs886054165 0.00003
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.1002C>T (p.Ile334=) rs762853526 0.00003
NM_000527.5(LDLR):c.1038G>A (p.Leu346=) rs769228441 0.00003
NM_000527.5(LDLR):c.1060+24C>A rs370478935 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000527.5(LDLR):c.1221C>T (p.His407=) rs778424518 0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.1335C>G (p.Asp445Glu) rs749780672 0.00003
NM_000527.5(LDLR):c.1383C>T (p.Gly461=) rs764929176 0.00003
NM_000527.5(LDLR):c.1431C>T (p.Asp477=) rs368610522 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000527.5(LDLR):c.1692T>C (p.Asn564=) rs528405760 0.00003
NM_000527.5(LDLR):c.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.1954A>G (p.Met652Val) rs730882111 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.2510A>G (p.His837Arg) rs150631538 0.00003
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu) rs377437226 0.00003
NM_000527.5(LDLR):c.285C>T (p.Cys95=) rs139400379 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.300C>T (p.Asp100=) rs766709484 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.417C>T (p.Asp139=) rs537484504 0.00003
NM_000527.5(LDLR):c.450C>T (p.Pro150=) rs773365925 0.00003
NM_000527.5(LDLR):c.501C>T (p.Cys167=) rs752596535 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.717C>T (p.Asp239=) rs1286110371 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
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.1049G>A (p.Arg350Gln) rs875989914 0.00002
NM_000527.5(LDLR):c.1065C>T (p.Ile355=) rs960032925 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg) rs746982741 0.00002
NM_000527.5(LDLR):c.1104C>T (p.Cys368=) rs113669610 0.00002
NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys) rs983617416 0.00002
NM_000527.5(LDLR):c.1162C>A (p.His388Asn) rs764551797 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1209C>T (p.Phe403=) rs777903106 0.00002
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) rs749780672 0.00002
NM_000527.5(LDLR):c.1401C>T (p.Thr467=) rs780942671 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) rs875989924 0.00002
NM_000527.5(LDLR):c.1706-21_1706-19del rs386134242 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.1733T>C (p.Val578Ala) rs72658864 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.1900C>T (p.Leu634Phe) rs1279368649 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000527.5(LDLR):c.2064C>T (p.Asn688=) rs142279332 0.00002
NM_000527.5(LDLR):c.2100C>T (p.Asp700=) rs759858813 0.00002
NM_000527.5(LDLR):c.210C>T (p.Ser70=) rs1297676592 0.00002
NM_000527.5(LDLR):c.2195G>C (p.Ser732Thr) rs764542721 0.00002
NM_000527.5(LDLR):c.226G>C (p.Gly76Arg) rs574337291 0.00002
NM_000527.5(LDLR):c.2277C>T (p.Leu759=) rs796145467 0.00002
NM_000527.5(LDLR):c.2294T>G (p.Val765Gly) rs879255170 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.2411T>C (p.Leu804Pro) rs879255203 0.00002
NM_000527.5(LDLR):c.2481C>T (p.Val827=) rs767524995 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.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_000527.5(LDLR):c.64G>T (p.Ala22Ser) rs942568624 0.00002
NM_000527.5(LDLR):c.651T>C (p.Asp217=) rs201374693 0.00002
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282 0.00002
NM_000527.5(LDLR):c.695-105G>C rs879254649 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.988A>C (p.Asn330His) rs730882095 0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NC_000019.10:g.11089358C>A rs934415028 0.00001
NC_000019.10:g.11089429C>T rs875989886 0.00001
NC_000019.10:g.11089434T>G rs1164871419 0.00001
NC_000019.10:g.11089452G>C rs944580031 0.00001
NM_000527.5(LDLR):c.*1040A>T rs1052334287 0.00001
NM_000527.5(LDLR):c.*1131G>T rs886054170 0.00001
NM_000527.5(LDLR):c.*1561C>T rs919800171 0.00001
NM_000527.5(LDLR):c.*169G>T rs886054157 0.00001
NM_000527.5(LDLR):c.*1744G>A rs1028044712 0.00001
NM_000527.5(LDLR):c.*1858G>A rs886054178 0.00001
NM_000527.5(LDLR):c.*767G>C rs886054163 0.00001
NM_000527.5(LDLR):c.*995G>A rs2077729618 0.00001
NM_000527.5(LDLR):c.-14C>A rs879254380 0.00001
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp) rs869320650 0.00001
NM_000527.5(LDLR):c.1008C>T (p.Tyr336=) rs767024374 0.00001
NM_000527.5(LDLR):c.1019G>T (p.Cys340Phe) rs755757866 0.00001
NM_000527.5(LDLR):c.1020C>G (p.Cys340Trp) rs777524402 0.00001
NM_000527.5(LDLR):c.1023C>T (p.Pro341=) rs376267007 0.00001
NM_000527.5(LDLR):c.1036C>T (p.Leu346=) rs1135402770 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1060+2T>G rs774069731 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.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.1112T>C (p.Leu371Pro) rs1060499920 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.1164C>T (p.His388=) rs1215990807 0.00001
NM_000527.5(LDLR):c.1186+10G>C rs781336025 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1187-11C>T rs897774579 0.00001
NM_000527.5(LDLR):c.1187-48A>G rs376882446 0.00001
NM_000527.5(LDLR):c.1187G>A (p.Gly396Asp) rs766474188 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.1284C>T (p.Asn428=) rs368708058 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1302G>A (p.Thr434=) rs534782075 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1336C>A (p.Leu446Met) rs375651668 0.00001
NM_000527.5(LDLR):c.1356C>T (p.Cys452=) rs137853961 0.00001
NM_000527.5(LDLR):c.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.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1435C>G (p.Leu479Val) rs1254928151 0.00001
NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys) rs766929574 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1515C>T (p.Gly505=) rs780757228 0.00001
NM_000527.5(LDLR):c.1566C>T (p.Ile522=) rs759322565 0.00001
NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu) rs763884010 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025 0.00001
NM_000527.5(LDLR):c.1587-11C>T rs201957233 0.00001
NM_000527.5(LDLR):c.1592T>A (p.Met531Lys) rs779913921 0.00001
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys) rs2077458389 0.00001
NM_000527.5(LDLR):c.1632A>G (p.Lys544=) rs1291759570 0.00001
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319 0.00001
NM_000527.5(LDLR):c.1635G>A (p.Gly545=) rs767602284 0.00001
NM_000527.5(LDLR):c.1653C>T (p.Asp551=) rs753878216 0.00001
NM_000527.5(LDLR):c.1658A>G (p.Tyr553Cys) rs879254974 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1662G>A (p.Ser554=) rs151047249 0.00001
NM_000527.5(LDLR):c.1665G>T (p.Leu555=) rs779057688 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766 0.00001
NM_000527.5(LDLR):c.1771A>G (p.Asn591Asp) rs140644832 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.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.1854A>G (p.Val618=) rs1248760084 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.191-50C>T rs374168004 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.1943C>T (p.Ser648Phe) rs1555807266 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.1957G>A (p.Val653Ile) rs879255085 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.1974C>T (p.Leu658=) rs546153613 0.00001
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) rs879255094 0.00001
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr) rs1182317785 0.00001
NM_000527.5(LDLR):c.2018G>A (p.Ser673Asn) rs1273197962 0.00001
NM_000527.5(LDLR):c.2022T>C (p.Asn674=) rs1320831782 0.00001
NM_000527.5(LDLR):c.2025C>T (p.Gly675=) rs778781895 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2037T>C (p.Tyr679=) rs760436036 0.00001
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_000527.5(LDLR):c.2088C>T (p.Cys696=) rs112954220 0.00001
NM_000527.5(LDLR):c.2097G>A (p.Pro699=) rs370835628 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn) rs879255142 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2138del (p.Thr713fs) rs1257344396 0.00001
NM_000527.5(LDLR):c.2140+11C>T rs780701050 0.00001
NM_000527.5(LDLR):c.2140+12G>A rs1409963984 0.00001
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.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.225T>C (p.Cys75=) rs758927662 0.00001
NM_000527.5(LDLR):c.2260G>A (p.Gly754Arg) rs559239150 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.2312-3C>T rs875989942 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.2346G>C (p.Lys782Asn) rs1057519688 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.2440C>T (p.Arg814Trp) rs746616623 0.00001
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00001
NM_000527.5(LDLR):c.2469T>C (p.Phe823=) rs1026436742 0.00001
NM_000527.5(LDLR):c.2472C>T (p.Asp824=) rs1309851194 0.00001
NM_000527.5(LDLR):c.2478C>T (p.Pro826=) rs774831273 0.00001
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser) rs1555809614 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.314C>T (p.Pro105Leu) rs730882079 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.378C>T (p.Phe126=) rs762139262 0.00001
NM_000527.5(LDLR):c.392A>G (p.Asp131Gly) rs730882081 0.00001
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala) rs1317204420 0.00001
NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) rs755799528 0.00001
NM_000527.5(LDLR):c.418G>T (p.Glu140Ter) rs748944640 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.432G>A (p.Pro144=) rs769228052 0.00001
NM_000527.5(LDLR):c.438C>A (p.Leu146=) rs762024743 0.00001
NM_000527.5(LDLR):c.447T>C (p.Gly149=) rs765386678 0.00001
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) rs763233960 0.00001
NM_000527.5(LDLR):c.48C>A (p.Leu16=) rs565675103 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) rs777321035 0.00001
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.531G>A (p.Ser177=) rs555158224 0.00001
NM_000527.5(LDLR):c.543G>A (p.Pro181=) rs766577671 0.00001
NM_000527.5(LDLR):c.544C>T (p.Gln182Ter) rs879254570 0.00001
NM_000527.5(LDLR):c.548G>A (p.Arg183His) rs767273754 0.00001
NM_000527.5(LDLR):c.565G>C (p.Val189Leu) rs370820135 0.00001
NM_000527.5(LDLR):c.572A>C (p.Gln191Pro) rs1423948022 0.00001
NM_000527.5(LDLR):c.584G>A (p.Ser195Asn) rs879254583 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.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.644G>A (p.Arg215His) rs753319170 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.68-9C>G rs1284807471 0.00001
NM_000527.5(LDLR):c.688A>G (p.Asn230Asp) rs1266776177 0.00001
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys) rs879254657 0.00001
NM_000527.5(LDLR):c.711C>T (p.Arg237=) rs780294768 0.00001
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys) rs1208667598 0.00001
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr) rs879254665 0.00001
NM_000527.5(LDLR):c.758G>A (p.Arg253Gln) rs139507589 0.00001
NM_000527.5(LDLR):c.770G>A (p.Arg257Gln) rs757808215 0.00001
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter) rs879254672 0.00001
NM_000527.5(LDLR):c.774A>G (p.Glu258=) rs1307291980 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.783C>T (p.Cys261=) rs1057519663 0.00001
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly) rs141681167 0.00001
NM_000527.5(LDLR):c.790A>C (p.Met264Leu) rs730882088 0.00001
NM_000527.5(LDLR):c.795C>T (p.Ser265=) rs146181232 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) rs879254682 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.820del (p.Thr274fs) rs751122998 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.892A>G (p.Met298Val) rs730882092 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000527.5(LDLR):c.908G>A (p.Arg303Gln) rs730882093 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr) rs761765254 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
NM_000527.5(LDLR):c.940+4A>C rs768247312 0.00001
NM_000527.5(LDLR):c.941-5C>T rs750183389 0.00001
NM_000527.5(LDLR):c.941-7T>C rs764945757 0.00001
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser) rs730882094 0.00001
NM_000527.5(LDLR):c.948C>T (p.Asn316=) rs780673258 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_000527.5(LDLR):c.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
FH Aarhus
FH Bologna 2
FH Cape Town 2
FH Leiden 2
FH London 1
FH London 2
FH Paris 1 rs1555803632
FH Reykjavik
FH Tonami 1
FH Tsukuba 2
FH Vancouver 2
FH Vancouver 3
FH Vancouver 6
GRCh37/hg19 19p13.2(chr19:11210898-11218191)x3
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
GRCh37/hg19 19p13.2(chr19:11215846-11222365)x3
GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1
GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1
GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1
GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1
GRCh38/hg38 19p13.2(chr19:11106564-11107515)x1
GRCh38/hg38 19p13.2(chr19:11110650-11110651)x3
GRCh38/hg38 19p13.2(chr19:11116092-11116093)x3
GRCh38/hg38 19p13.2(chr19:11116093-11116999)x1
GRCh38/hg38 19p13.2(chr19:11120091-11120523)x1
GRCh38/hg38 19p13.2(chr19:11120091-11123345)x1
GRCh38/hg38 19p13.2(chr19:11128007-11133830)x1
GRCh38/hg38 19p13.2(chr19:11129512-11133830)x1
LDLR, EX17-18DEL
NC_000019.10:g.(?_11100203)_(11102806_?)del
NC_000019.10:g.(?_11102644)_(11107534_?)del
NC_000019.10:g.(?_11110652)_(11110771_?)del
NC_000019.10:g.(?_11116074)_(11131359_?)del
NC_000019.10:g.(?_11120072)_(11120608_?)del
NC_000019.10:g.(?_11127988)_(11128105_?)del
NC_000019.10:g.(?_11129513)_(11133830_?)del
NC_000019.10:g.11089321G>C
NC_000019.10:g.11089322G>C rs1555800612
NC_000019.10:g.11089329A>T
NC_000019.10:g.11089334A>C
NC_000019.10:g.11089334A>G rs879254360
NC_000019.10:g.11089334A>T
NC_000019.10:g.11089341A>T rs879254361
NC_000019.10:g.11089343C>T rs549995837
NC_000019.10:g.11089346C>T
NC_000019.10:g.11089351del
NC_000019.10:g.11089352G>A rs2077054310
NC_000019.10:g.11089356C>G
NC_000019.10:g.11089356_11089363delinsTG rs879254362
NC_000019.10:g.11089364C>T
NC_000019.10:g.11089364_11089366del rs879254363
NC_000019.10:g.11089372G>T
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>G rs879254370
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.11089421A>G
NC_000019.10:g.11089426C>T
NC_000019.10:g.11089427C>A rs1568582299
NC_000019.10:g.11089430A>C
NC_000019.10:g.11089432A>G
NC_000019.10:g.11089446A>T
NC_000019.10:g.11089448T>C rs747068848
NC_000019.10:g.11089452G>A rs944580031
NC_000019.10:g.11089455G>A
NC_000019.10:g.11089455G>T rs1212116636
NC_000019.10:g.11089461G>A
NC_000019.9:g.(11212181_11213340)_(11218190_11219759)del
NC_000019.9:g.(11213519_11215396)_(11244426_11256864)del
NC_000019.9:g.(11216759_11217241)_(11217363_11217715)del
NC_000019.9:g.(11236353_11238684)_(11240346_11241151)del
NC_000019.9:g.(?_11200038)_(11211022_11213339)del
NC_000019.9:g.(?_11210879)_(11222335_?)dup
NC_000019.9:g.(?_11215876)_(11222335_?)dup
NC_000019.9:g.(?_11222190)_(11227674_?)del
NC_000019.9:g.(?_11230768)_(11240346_?)dup
NC_000019.9:g.(?_11233830)_(11242035_?)dup
NC_000019.9:g.(?_11238684)_(11248011_?)dup
NC_000019.9:g.(?_11240188)_(11240347_?)del
NC_000019.9:g.11224039_11224040ins(96)
NG_009060.1(LDLR):g.15965TG[3]
NG_009060.1(LDLR):g.4976CTC[2] rs1270618112
NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del
NM_000527.4(LDLR):c.(1586+1_1587-1)_(2547+1_2548-1)del
NM_000527.4(LDLR):c.(1845+1_1846-1)_(*_?)del
NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del
NM_000527.4(LDLR):c.(2311+1_2312-1)_(2547+1_2548-1)del
NM_000527.4(LDLR):c.(2389+1_2390-1)_(*_?)del
NM_000527.4(LDLR):c.(313+1_314-1)_(1586+1_1587-1)dup
NM_000527.4(LDLR):c.(313+1_314-1)_(940+1_941-1)del
NM_000527.4(LDLR):c.(67+1_68-1)_(1586+1_1587-1)del
NM_000527.4(LDLR):c.(67+1_68-1)_(2311+1_2312-1)dup
NM_000527.4(LDLR):c.(940+1_941-1)_(1186+1_1187-1)del
NM_000527.4(LDLR):c.(940+1_941-1)_(1586+1_1587-1)del
NM_000527.4(LDLR):c.(940+1_941-1)_(1845+1_1846-1)del
NM_000527.4(LDLR):c.(?_-1)_(1845+1_1846-1)dup
NM_000527.4(LDLR):c.(?_-1)_(67+1_68-1)del
NM_000527.4(LDLR):c.-124dup rs1057519649
NM_000527.4(LDLR):c.-135C>A rs879254375
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.-150A>G rs1555800632
NM_000527.4(LDLR):c.-151C>G rs1555800631
NM_000527.4(LDLR):c.-155_-150delACCCCA rs1057519648
NM_000527.4(LDLR):c.-168A>G rs1057519647
NM_000527.4(LDLR):c.-172G>A rs1555800629
NM_000527.4(LDLR):c.-187-?_940+?dup
NM_000527.4(LDLR):c.-187_67+?del
NM_000527.4(LDLR):c.-193_-187delinsTG rs1555800620
NM_000527.4(LDLR):c.-221_-220insA rs879254359
NM_000527.4(LDLR):c.-229_-90del rs1555800611
NM_000527.4(LDLR):c.-97G>T rs944580031
NM_000527.4(LDLR):c.-98C>T rs1555800648
NM_000527.4(LDLR):c.-99A>G rs1057519650
NM_000527.4(LDLR):c.1061-?_1586+?del
NM_000527.4(LDLR):c.1061-?_1845+?del
NM_000527.4(LDLR):c.1187-?_1586+?del
NM_000527.4(LDLR):c.1187-?_1845+?del
NM_000527.4(LDLR):c.1359-?_1586+?del
NM_000527.4(LDLR):c.1587-?_1845+?del
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.1587-?_2311+?del
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.1706-?_1845+?del
NM_000527.4(LDLR):c.1706-?_2311+?del
NM_000527.4(LDLR):c.1846-?_1987+?del
NM_000527.4(LDLR):c.1846-?_2140+?dup
NM_000527.4(LDLR):c.1846-?_2311+?del
NM_000527.4(LDLR):c.191-?_1186+?dup
NM_000527.4(LDLR):c.191-?_313+?dup
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.2141-?_(2583_?)del
NM_000527.4(LDLR):c.2141-?_2311+?del
NM_000527.4(LDLR):c.2141-?_2389+?del
NM_000527.4(LDLR):c.2141_2311del171 (p.Glu714_Gln770del) rs1555808008
NM_000527.4(LDLR):c.2312-?_*2514del
NM_000527.4(LDLR):c.2312-?_2389+?del
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.314-?_1060+?del
NM_000527.4(LDLR):c.314-?_694+?del
NM_000527.4(LDLR):c.314-?_940+?del
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.4(LDLR):c.68-?_1586+?del
NM_000527.4(LDLR):c.680_681ins(21)
NM_000527.4(LDLR):c.680_682delACGins14 (p.?)
NM_000527.4(LDLR):c.680_692delACGAGGAAAACTGins24 (p.?)
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.818-?_1186+?del
NM_000527.4(LDLR):c.818-?_940+?del
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.4(LDLR):c.941-?_1186+?dup
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.4(LDLR):c.941-?_1586+?dup
NM_000527.4(LDLR):c.941-?_1705+?dup
NM_000527.4(LDLR):c.941-?_1845+?del
NM_000527.4(LDLR):c.941-?_1845+?dup
NM_000527.4(LDLR):c.[649_654dupGATGGT;657_661delCCCCG]
NM_000527.4:c.(1705+1_1706-1)_(1845+1_1846-1)del
NM_000527.4:c.(1845+1_1846-1)_(2311+1_2312-1)del
NM_000527.4:c.(2140+1_2141-1)_(2389+1_2390-1)del
NM_000527.4:c.(313+1_314-1)_(1186+1_1187-1)del
NM_000527.4:c.(67+1_68-1)_(1845+1_1846-1)del
NM_000527.4:c.(?_-1)_(940+1_941-1)del
NM_000527.4:c.[1979A>C;2359G>A]
NM_000527.4:c.[829G>A;1268T>C]
NM_000527.4:c.[932A>G;939C>G]
NM_000527.5(LDLR):c.*1130A>G rs958607333
NM_000527.5(LDLR):c.*1153G>A rs886054171
NM_000527.5(LDLR):c.*1217C>G rs3180023
NM_000527.5(LDLR):c.*1232CTA[1] rs398059563
NM_000527.5(LDLR):c.*1393C>A rs571673106
NM_000527.5(LDLR):c.*1430C>A rs7254521
NM_000527.5(LDLR):c.*1558C>T rs1334375934
NM_000527.5(LDLR):c.*1609G>T rs886054174
NM_000527.5(LDLR):c.*1831T>A rs886054177
NM_000527.5(LDLR):c.*1916A>G rs886054180
NM_000527.5(LDLR):c.*1917G>A rs886054181
NM_000527.5(LDLR):c.*1931A>G rs886054182
NM_000527.5(LDLR):c.*2076dup rs545860269
NM_000527.5(LDLR):c.*2126G>A rs142697277
NM_000527.5(LDLR):c.*2132G>A rs184187776
NM_000527.5(LDLR):c.*2136A>G
NM_000527.5(LDLR):c.*2196TA[12] rs3980933
NM_000527.5(LDLR):c.*2196TA[7] rs3980933
NM_000527.5(LDLR):c.*2208T>C rs886054185
NM_000527.5(LDLR):c.*2212CA[4] rs886054186
NM_000527.5(LDLR):c.*223G>A rs17243011
NM_000527.5(LDLR):c.*2350C>G rs565264863
NM_000527.5(LDLR):c.*2366G>T rs886054189
NM_000527.5(LDLR):c.*2384G>T rs886054190
NM_000527.5(LDLR):c.*372C>A rs886054158
NM_000527.5(LDLR):c.*43G>A rs879254527
NM_000527.5(LDLR):c.*503C>T rs574677226
NM_000527.5(LDLR):c.*523G>T rs886054160
NM_000527.5(LDLR):c.*563G>T rs886054161
NM_000527.5(LDLR):c.*579G>T rs886054162
NM_000527.5(LDLR):c.*716C>T rs951251390
NM_000527.5(LDLR):c.*784C>T rs886054164
NM_000527.5(LDLR):c.*849A>C rs1052078773
NM_000527.5(LDLR):c.*854G>T rs886054166
NM_000527.5(LDLR):c.*942G>A rs886054167
NM_000527.5(LDLR):c.*946C>A rs886054168
NM_000527.5(LDLR):c.*965C>T rs72658874
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.-18C>T
NM_000527.5(LDLR):c.-22del rs879254379
NM_000527.5(LDLR):c.-23A>G rs763282380
NM_000527.5(LDLR):c.-25A>T
NM_000527.5(LDLR):c.-28G>C rs1131692188
NM_000527.5(LDLR):c.-36T>A
NM_000527.5(LDLR):c.-36T>G rs879254378
NM_000527.5(LDLR):c.-46C>A
NM_000527.5(LDLR):c.-4G>A
NM_000527.5(LDLR):c.-55_-52del rs2077055920
NM_000527.5(LDLR):c.-5C>T rs879254381
NM_000527.5(LDLR):c.-63T>C
NM_000527.5(LDLR):c.-68A>C rs879254377
NM_000527.5(LDLR):c.-80T>C
NM_000527.5(LDLR):c.-8C>A rs2147186383
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg) rs544453230
NM_000527.5(LDLR):c.1003G>T (p.Gly335Cys) rs544453230
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1005del (p.Tyr336fs)
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_1014del (p.Glu337_Cys338del)
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.1010_1013dup (p.Cys338Ter) rs2077362782
NM_000527.5(LDLR):c.1011G>T (p.Glu337Asp)
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.1013G>T (p.Cys338Phe) rs879254754
NM_000527.5(LDLR):c.1014C>A (p.Cys338Ter) rs879254755
NM_000527.5(LDLR):c.1014C>G (p.Cys338Trp) 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.1023C>G (p.Pro341=)
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1024G>C (p.Asp342His)
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.1027G>T (p.Gly343Cys) rs730882096
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.5(LDLR):c.1028G>T (p.Gly343Val) rs879254760
NM_000527.5(LDLR):c.1029C>G (p.Gly343=)
NM_000527.5(LDLR):c.102C>A (p.Cys34Ter) rs879254407
NM_000527.5(LDLR):c.102C>G (p.Cys34Trp) rs879254407
NM_000527.5(LDLR):c.102C>T (p.Cys34=)
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.1036C>G (p.Leu346Val)
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter) rs879254408
NM_000527.5(LDLR):c.103del (p.Gln35fs) rs2147210233
NM_000527.5(LDLR):c.1042_1043insA (p.Ala348fs) rs879254763
NM_000527.5(LDLR):c.1042del (p.Ala348fs) rs879254764
NM_000527.5(LDLR):c.1043C>T (p.Ala348Val) rs2147239182
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.1046dup (p.Arg350fs) rs1555804545
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1050A>C (p.Arg350=) rs1555804560
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_1056del (p.Cys352del) rs2077364374
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.1057G>T (p.Glu353Ter) rs370471092
NM_000527.5(LDLR):c.105_110del (p.Asp36_Gly37del) rs1555802270
NM_000527.5(LDLR):c.1060+10G>A
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.1060+7=
NM_000527.5(LDLR):c.1061-1G>A rs879254774
NM_000527.5(LDLR):c.1061-1G>T rs879254774
NM_000527.5(LDLR):c.1061-2A>G rs879254773
NM_000527.5(LDLR):c.1061-2A>T
NM_000527.5(LDLR):c.1061-8T>A rs72658861
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.1063del (p.Ile355fs)
NM_000527.5(LDLR):c.1064dup (p.Asp356fs) rs1555804700
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.1067A>T (p.Asp356Val) 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.1069G>C (p.Glu357Gln)
NM_000527.5(LDLR):c.1069_1086dup (p.Glu357_Asp362dup) rs879254780
NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr) rs2147210262
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly) rs753248521
NM_000527.5(LDLR):c.1070_1071dup (p.Cys358fs) rs2147241240
NM_000527.5(LDLR):c.1070_1073dup (p.Cys358Ter) rs879254782
NM_000527.5(LDLR):c.1070del (p.Glu357fs) rs1555804717
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.1081C>T (p.Pro361Ser) rs1131692203
NM_000527.5(LDLR):c.1083C>T (p.Pro361=) rs567564778
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.1090T>G (p.Cys364Gly)
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr) rs879254788
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.1092C>T (p.Cys364=) rs1555804729
NM_000527.5(LDLR):c.1093A>G (p.Ser365Gly)
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.1098_1109del (p.Gln366_Asn370delinsHis) rs878854024
NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)
NM_000527.5(LDLR):c.109G>A (p.Gly37Arg) rs2077193497
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
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.1114G>C (p.Glu372Gln)
NM_000527.5(LDLR):c.1114G>T (p.Glu372Ter) rs1131692204
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>C (p.Gly373Ala) rs879254797
NM_000527.5(LDLR):c.1118G>T (p.Gly373Val) rs879254797
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1118dup (p.Gly374fs) rs2147241499
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.1122C>G (p.Gly374=)
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.1130G>T (p.Cys377Phe) rs879254801
NM_000527.5(LDLR):c.1130del (p.Cys377fs) rs1131692205
NM_000527.5(LDLR):c.1131C>T (p.Cys377=) rs1479733657
NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter) rs879254802
NM_000527.5(LDLR):c.1134G>A (p.Gln378=)
NM_000527.5(LDLR):c.1134G>C (p.Gln378His)
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1135T>G (p.Cys379Gly) rs879254803
NM_000527.5(LDLR):c.1135_1186+14del rs1555804793
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.5(LDLR):c.1144G>C (p.Gly382Arg)
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1146C>T (p.Gly382=) rs1158580981
NM_000527.5(LDLR):c.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>C (p.Leu385Pro) rs879254809
NM_000527.5(LDLR):c.1154T>G (p.Leu385Arg) rs879254809
NM_000527.5(LDLR):c.1155G>C (p.Leu385=) rs1347387935
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu) rs879254810
NM_000527.5(LDLR):c.1158_1162dup (p.His388fs)
NM_000527.5(LDLR):c.115T>C (p.Cys39Arg) rs1555802275
NM_000527.5(LDLR):c.1160C>A (p.Pro387His)
NM_000527.5(LDLR):c.1160C>T (p.Pro387Leu) rs756672317
NM_000527.5(LDLR):c.1162del (p.His388fs) rs875989917
NM_000527.5(LDLR):c.1162dup (p.His388fs)
NM_000527.5(LDLR):c.1166C>G (p.Thr389Arg)
NM_000527.5(LDLR):c.1168A>T (p.Lys390Ter) rs879254811
NM_000527.5(LDLR):c.116G>T (p.Cys39Phe) rs1131692189
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.1175G>A (p.Cys392Tyr)
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1176C>T (p.Cys392=)
NM_000527.5(LDLR):c.1177A>C (p.Lys393Gln) rs1060499921
NM_000527.5(LDLR):c.1178A>C (p.Lys393Thr) rs2147241974
NM_000527.5(LDLR):c.1178del (p.Lys393fs) rs879254815
NM_000527.5(LDLR):c.1179G>C (p.Lys393Asn) rs879254816
NM_000527.5(LDLR):c.117C>A (p.Cys39Ter)
NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer) rs879254412
NM_000527.5(LDLR):c.1181C>T (p.Ala394Val)
NM_000527.5(LDLR):c.1182del (p.Val395fs) rs879254817
NM_000527.5(LDLR):c.1184_1185del (p.Val395fs) rs1060499922
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+1G>T 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.1186+6C>T
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.5(LDLR):c.1186G>C (p.Gly396Arg) rs879254820
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1187-10_1272dup rs1555805127
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.1187-9G>C rs896885804
NM_000527.5(LDLR):c.1187G>T (p.Gly396Val) rs766474188
NM_000527.5(LDLR):c.1187del
NM_000527.5(LDLR):c.1189T>A (p.Ser397Thr) rs879254825
NM_000527.5(LDLR):c.118del (p.Ile40fs) rs879254413
NM_000527.5(LDLR):c.1195G>T (p.Ala399Ser) rs730882099
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1196C>T (p.Ala399Val)
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.1204_1205del (p.Phe402fs) rs1060499923
NM_000527.5(LDLR):c.1205T>C (p.Phe402Ser) rs1057519668
NM_000527.5(LDLR):c.1205dup (p.Phe403fs) rs879254828
NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs) rs879254829
NM_000527.5(LDLR):c.1206del (p.Phe403fs)
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.1210A>T (p.Thr404Ser)
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.1214A>T (p.Asn405Ile) 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.121T>A (p.Ser41Thr) rs2077193859
NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln) rs137943601
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.1224G>C (p.Glu408Asp)
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.1234A>C (p.Met412Leu) rs1225797407
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.123C>T (p.Ser41=) rs1555802284
NM_000527.5(LDLR):c.1241T>A (p.Leu414Gln)
NM_000527.5(LDLR):c.1242G>C (p.Leu414=)
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.1244_1245del (p.Asp415fs)
NM_000527.5(LDLR):c.1245C>A (p.Asp415Glu)
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.1253A>G (p.Glu418Gly) rs2147247251
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp) rs879254847
NM_000527.5(LDLR):c.1255dup (p.Tyr419fs) rs2077408827
NM_000527.5(LDLR):c.1256A>G (p.Tyr419Cys) rs1057519669
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.1261A>G (p.Ser421Gly) rs1600726484
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg) rs752942769
NM_000527.5(LDLR):c.1263C>T (p.Ser421=) rs752942769
NM_000527.5(LDLR):c.1265T>C (p.Leu422Pro) rs879254848
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.5(LDLR):c.1269C>G (p.Ile423Met)
NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter)
NM_000527.5(LDLR):c.126C>G (p.Tyr42Ter) rs751317621
NM_000527.5(LDLR):c.1273A>G (p.Asn425Asp) rs1327586053
NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile) rs879254850
NM_000527.5(LDLR):c.1275C>T (p.Asn425=)
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1283A>C (p.Asn428Thr)
NM_000527.5(LDLR):c.1283A>G (p.Asn428Ser) rs879254852
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1284del (p.Asn428fs) rs2077409930
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1285_1289dup (p.Ala431fs)
NM_000527.5(LDLR):c.1288G>C (p.Val430Leu) rs879254853
NM_000527.5(LDLR):c.1290C>T (p.Val430=) rs1568603661
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.5(LDLR):c.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.1300A>C (p.Thr434Pro) rs1555805237
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.1309_1310insTCGCTCTGGACACGTAGGTGG (p.Ala437delinsValAlaLeuAspThrTer) rs2077410686
NM_000527.5(LDLR):c.1309dup (p.Ala437fs) rs879254859
NM_000527.5(LDLR):c.1315A>G (p.Asn439Asp)
NM_000527.5(LDLR):c.1315A>T (p.Asn439Tyr) rs1057519670
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.131G>T (p.Trp44Leu) 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.1326C>T (p.Tyr442=) rs879254865
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg) rs773566855
NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter) rs879254866
NM_000527.5(LDLR):c.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.132G>A (p.Trp44Ter) rs1555802287
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.1330del (p.Ser444fs) rs1057519671
NM_000527.5(LDLR):c.1331C>T (p.Ser444Phe) rs2147247764
NM_000527.5(LDLR):c.1336C>T (p.Leu446=) rs375651668
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>A (p.Gln448Lys) rs879254871
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1343del (p.Gln448fs) rs879254872
NM_000527.5(LDLR):c.1351A>G (p.Ile451Val)
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+10G>A
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+2T>C rs193922567
NM_000527.5(LDLR):c.1358+3_1358+8del rs879254875
NM_000527.5(LDLR):c.1358+5G>T rs1060499924
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.1366C>T (p.Leu456Phe) rs761004553
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.1368T>A (p.Leu456=) rs2077414640
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_1394delinsCAGCT (p.His460fs) rs1555805337
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.1381G>A (p.Gly461Ser) rs193922568
NM_000527.5(LDLR):c.138C>A (p.Cys46Ter) rs754676104
NM_000527.5(LDLR):c.1392C>T (p.Ser464=) rs762817882
NM_000527.5(LDLR):c.1392del (p.Tyr465fs) rs879254888
NM_000527.5(LDLR):c.1393del (p.Tyr465fs) rs1555805348
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.139G>C (p.Asp47His) rs778284147
NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr) rs778284147
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.1406T>A (p.Ile469Asn) rs2077415798
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly) rs1057516128
NM_000527.5(LDLR):c.140_153del (p.Asp47fs) rs1555802291
NM_000527.5(LDLR):c.1411A>G (p.Arg471Gly) rs879254891
NM_000527.5(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs) rs1555805360
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.1418T>G (p.Ile473Ser) 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.1427C>T (p.Pro476Leu) rs1131692208
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.1432G>T (p.Gly478Trp) rs144614838
NM_000527.5(LDLR):c.1433G>A (p.Gly478Glu) rs1555805380
NM_000527.5(LDLR):c.1434G>A (p.Gly478=) rs886039832
NM_000527.5(LDLR):c.1434del (p.Leu479fs) rs879254899
NM_000527.5(LDLR):c.1436T>A (p.Leu479Gln) rs879254900
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900
NM_000527.5(LDLR):c.1438G>A (p.Ala480Thr) rs879254901
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.1448G>T (p.Trp483Leu) rs875989921
NM_000527.5(LDLR):c.1449G>A (p.Trp483Ter) rs879254907
NM_000527.5(LDLR):c.1449G>C (p.Trp483Cys) 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.1456del (p.Ser486fs) rs1131692209
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.1461dup (p.Ile488fs) rs1555805409
NM_000527.5(LDLR):c.1462_1463insC (p.Ile488fs) rs1555805413
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.1464_1465del (p.Tyr489fs)
NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys) rs879254914
NM_000527.5(LDLR):c.1467C>A (p.Tyr489Ter) rs370777955
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.1469G>C (p.Trp490Ser)
NM_000527.5(LDLR):c.1469G>T (p.Trp490Leu) rs875989922
NM_000527.5(LDLR):c.1470G>A (p.Trp490Ter) rs879254915
NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys) 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.1473C>G (p.Thr491=) rs558238642
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1474del (p.Asp492fs)
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.1478C>G (p.Ser493Cys)
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1478del (p.Ser493fs) rs1057519672
NM_000527.5(LDLR):c.147C>A (p.Ser49Arg) rs138078086
NM_000527.5(LDLR):c.1483C>G (p.Leu495Val)
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.1492_1493del (p.Val498fs) rs2077419354
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.1499T>C (p.Val500Ala) rs886039833
NM_000527.5(LDLR):c.1501G>A (p.Ala501Thr) rs2077419716
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) rs755667663
NM_000527.5(LDLR):c.1502C>G (p.Ala501Gly) 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.150T>C (p.Ala50=) rs1456739064
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.1516G>C (p.Val506Leu) rs373848925
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.1521G>C (p.Lys507Asn) rs1555805490
NM_000527.5(LDLR):c.1522delinsCTGAAT (p.Arg508fs) rs879254930
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu) rs879254931
NM_000527.5(LDLR):c.1529del (p.Thr510fs) rs1057519673
NM_000527.5(LDLR):c.1530del (p.Leu511fs) rs1131692210
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.1548C>T (p.Gly516=)
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.1550C>T (p.Ser517Phe) rs749126200
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>A (p.Pro519Thr) rs875989923
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.1565T>G (p.Ile522Ser)
NM_000527.5(LDLR):c.1566del (p.Ile522fs) rs1131692211
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
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.1568TGG[1] (p.Val524del)
NM_000527.5(LDLR):c.1568dup (p.Val524fs)
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
NM_000527.5(LDLR):c.1570_1579del (p.Val524fs) rs1555805530
NM_000527.5(LDLR):c.1571T>G (p.Val524Gly)
NM_000527.5(LDLR):c.1571_1572del (p.Val524fs) rs1057519674
NM_000527.5(LDLR):c.1571_1586+3dup rs1555805531
NM_000527.5(LDLR):c.1573_1586+5del
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu) rs763884010
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr) rs730882106
NM_000527.5(LDLR):c.1577C>A (p.Pro526His) rs879254944
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg) rs879254944
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
NM_000527.5(LDLR):c.1579G>A (p.Val527Ile) rs758890891
NM_000527.5(LDLR):c.157C>T (p.Gln53Ter) rs879254419
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1586+12C>T
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1586+1G>C rs755389753
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.1586+5G>C 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.1587-5_1618del rs1555805930
NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs) rs879254949
NM_000527.5(LDLR):c.1590C>A (p.Phe530Leu)
NM_000527.5(LDLR):c.1592T>C (p.Met531Thr)
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.5(LDLR):c.1592_1627del (p.Met531_Ile542del) rs879254950
NM_000527.5(LDLR):c.1594T>A (p.Tyr532Asn) rs1600732566
NM_000527.5(LDLR):c.1595A>G (p.Tyr532Cys) rs1060499925
NM_000527.5(LDLR):c.1596C>G (p.Tyr532Ter) rs1555805947
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>A (p.Asp535Asn) rs879254955
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>G (p.Thr538Ala) rs879254960
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.161A>T (p.Asp54Val)
NM_000527.5(LDLR):c.1620dup (p.Lys541fs) rs1555805985
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.1631A>C (p.Lys544Thr) rs2077459016
NM_000527.5(LDLR):c.1632_1633del (p.Gly546fs) rs1060499926
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.1638C>T (p.Gly546=) rs1480572702
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.1654A>G (p.Ile552Val) rs2077459948
NM_000527.5(LDLR):c.1655del (p.Ile552fs) rs879254972
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
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.1673_1676del (p.Glu558fs)
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe) rs1131692213
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.5(LDLR):c.1683G>A (p.Gln561=) rs2077460841
NM_000527.5(LDLR):c.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.1686G>T (p.Trp562Cys) 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.1688_1695del (p.Pro563fs) rs2077460968
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.1691A>C (p.Asn564Thr) rs758194385
NM_000527.5(LDLR):c.1693_1696del (p.Gly565fs) rs1555806088
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) rs879254989
NM_000527.5(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs) rs774615547
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+2T>C rs1555806110
NM_000527.5(LDLR):c.1705+2_1705+3insC rs879254994
NM_000527.5(LDLR):c.1705G>A (p.Asp569Asn) rs879254993
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>C 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>G rs878854027
NM_000527.5(LDLR):c.1706-2A>T rs878854027
NM_000527.5(LDLR):c.1706-5T>A rs1161843170
NM_000527.5(LDLR):c.1706-69G>T rs7259278
NM_000527.5(LDLR):c.1707T>G (p.Asp569Glu) rs2077470774
NM_000527.5(LDLR):c.170A>C (p.Asp57Ala) rs1555802310
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.1716T>G (p.Ser572Arg)
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.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro) rs1249568272
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.172G>T (p.Glu58Ter) rs879254423
NM_000527.5(LDLR):c.172del (p.Glu58fs) rs879254422
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
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>C (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1732G>T (p.Val578Phe) rs1301458707
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.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.1736A>T (p.Asp579Val) rs879255003
NM_000527.5(LDLR):c.1736_1737delinsT (p.Asp579fs) rs1131692214
NM_000527.5(LDLR):c.1737C>G (p.Asp579Glu) rs879255004
NM_000527.5(LDLR):c.1737del (p.Ser580fs) rs879255005
NM_000527.5(LDLR):c.1738T>C (p.Ser580Pro) rs1057519675
NM_000527.5(LDLR):c.1738_1739insTGT (p.Asp579_Ser580insLeu) rs1131692215
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.173A>G (p.Glu58Gly) rs879254424
NM_000527.5(LDLR):c.1741A>T (p.Lys581Ter) rs1060499927
NM_000527.5(LDLR):c.1743A>T (p.Lys581Asn) rs1555806428
NM_000527.5(LDLR):c.1744C>G (p.Leu582Val) rs1131692216
NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.5(LDLR):c.1744_1745insA (p.Leu582fs) rs1131692217
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.1749C>G (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.1753del (p.Ile585fs) rs1555806448
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.1756T>C (p.Ser586Pro) rs2147257524
NM_000527.5(LDLR):c.1756del (p.Ser586fs) rs879255013
NM_000527.5(LDLR):c.1757C>A (p.Ser586Ter) rs1555806455
NM_000527.5(LDLR):c.1757C>G (p.Ser586Ter) rs1555806455
NM_000527.5(LDLR):c.1759del (p.Ser587fs) rs879255014
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.1765G>T (p.Asp589Tyr) rs201971888
NM_000527.5(LDLR):c.1766_1767del (p.Asp589fs) rs879255015
NM_000527.5(LDLR):c.1766del (p.Asp589fs) rs879255016
NM_000527.5(LDLR):c.1768G>A (p.Val590Ile)
NM_000527.5(LDLR):c.1769_1774del (p.Val590_Asn591del) rs1555806467
NM_000527.5(LDLR):c.176C>T (p.Ser59Phe)
NM_000527.5(LDLR):c.1773_1774delinsT (p.Gly593fs) rs1057519676
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1776_1778del (p.Gly593del) rs875989931
NM_000527.5(LDLR):c.1778G>A (p.Gly593Asp)
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.178C>T (p.Gln60Ter) rs794728585
NM_000527.5(LDLR):c.178del (p.Gln60fs) rs1555802312
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.1794_1795del (p.Leu599fs)
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.1800G>C (p.Glu600Asp)
NM_000527.5(LDLR):c.1800G>T (p.Glu600Asp)
NM_000527.5(LDLR):c.1801G>A (p.Asp601Asn)
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1801G>T (p.Asp601Tyr) rs753707206
NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly) rs879255027
NM_000527.5(LDLR):c.1802A>T (p.Asp601Val) rs879255027
NM_000527.5(LDLR):c.1802dup (p.Asp601fs) rs879255028
NM_000527.5(LDLR):c.1804G>T (p.Glu602Ter)
NM_000527.5(LDLR):c.1807A>T (p.Lys603Ter) rs879255029
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg) rs1302327551
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.1819C>G (p.His607Asp)
NM_000527.5(LDLR):c.1819C>T (p.His607Tyr) rs1555806536
NM_000527.5(LDLR):c.181G>T (p.Glu61Ter) rs2077195468
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.1829_1840dup (p.Ser610_Val613dup) rs1555806546
NM_000527.5(LDLR):c.1830_1839del (p.Ala612fs) rs886039834
NM_000527.5(LDLR):c.1831T>C (p.Leu611=)
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>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.183G>A (p.Glu61=) rs2147210752
NM_000527.5(LDLR):c.1840T>A (p.Phe614Ile) rs879255043
NM_000527.5(LDLR):c.1841_1842del (p.Val613_Phe614insTer) rs879255044
NM_000527.5(LDLR):c.1842_1845+2del rs1555806582
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>A rs778408161
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.1845+915_2141-498del
NM_000527.5(LDLR):c.1845G>C (p.Glu615Asp)
NM_000527.5(LDLR):c.1846-10G>A rs368243304
NM_000527.5(LDLR):c.1846-11T>A rs2147264751
NM_000527.5(LDLR):c.1846-1G>C rs879255051
NM_000527.5(LDLR):c.1846-2A>C rs879255050
NM_000527.5(LDLR):c.1846_1865del (p.Asp616fs) rs1131692219
NM_000527.5(LDLR):c.1848C>T (p.Asp616=) rs2077522347
NM_000527.5(LDLR):c.1849A>G (p.Lys617Glu)
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
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.1859G>C (p.Trp620Ser) rs879255056
NM_000527.5(LDLR):c.185C>G (p.Thr62Arg) rs376207800
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.1863A>C (p.Thr621=) rs768509914
NM_000527.5(LDLR):c.1863A>G (p.Thr621=) rs768509914
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) rs879255059
NM_000527.5(LDLR):c.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.1869C>A (p.Ile623=) rs765202964
NM_000527.5(LDLR):c.1872del (p.Asn625fs) rs879255063
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1874A>G (p.Asn625Ser) rs879255064
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1876del (p.Glu626fs) rs879255065
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
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.1881C>T (p.Ala627=) rs2147264976
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.1885_1886insA (p.Phe629fs)
NM_000527.5(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.5(LDLR):c.188G>T (p.Cys63Phe) rs879254427
NM_000527.5(LDLR):c.1891_2311+1062del
NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp) rs879255070
NM_000527.5(LDLR):c.1895A>T (p.Asn632Ile) rs1202258257
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.190+2_190+3del
NM_000527.5(LDLR):c.190+5G>A rs1131692190
NM_000527.5(LDLR):c.1904C>T (p.Thr635Ile) rs879255071
NM_000527.5(LDLR):c.1904_1905del (p.Thr635fs) rs2077524382
NM_000527.5(LDLR):c.1905A>G (p.Thr635=)
NM_000527.5(LDLR):c.1907G>A (p.Gly636Asp) rs879255072
NM_000527.5(LDLR):c.1907G>T (p.Gly636Val) rs879255072
NM_000527.5(LDLR):c.191-15C>A
NM_000527.5(LDLR):c.191-15C>G rs749245318
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.191-1G>T rs879254433
NM_000527.5(LDLR):c.191-252_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.1911del (p.Asp638fs) rs867272973
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.191T>A (p.Leu64Ter) rs774016801
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.1936C>T (p.Leu646=)
NM_000527.5(LDLR):c.1936del (p.Leu646fs) rs879255078
NM_000527.5(LDLR):c.1937T>A (p.Leu646Gln) rs1555807261
NM_000527.5(LDLR):c.1939C>T (p.Leu647=) rs1600742572
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.1942T>G (p.Ser648Ala)
NM_000527.5(LDLR):c.1943_1944delinsG (p.Ser648fs) rs2147265230
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.1954A>T (p.Met652Leu) rs730882111
NM_000527.5(LDLR):c.1954_1955del (p.Met652fs) rs875989935
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.5(LDLR):c.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.1961T>C (p.Leu654Pro) rs2077526349
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.1965_1966delinsG (p.Phe655fs) rs2147265360
NM_000527.5(LDLR):c.1966C>T (p.His656Tyr)
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.1970A>G (p.Asn657Ser)
NM_000527.5(LDLR):c.1971C>A (p.Asn657Lys) rs1057519678
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.1978C>T (p.Gln660Ter) rs193922569
NM_000527.5(LDLR):c.1979A>C (p.Gln660Pro) rs879255095
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg) rs879255095
NM_000527.5(LDLR):c.1980G>A (p.Gln660=)
NM_000527.5(LDLR):c.1980G>C (p.Gln660His) rs1382517876
NM_000527.5(LDLR):c.1980_1983del (p.Pro661fs) rs1057519679
NM_000527.5(LDLR):c.1981C>G (p.Pro661Ala) rs1182317785
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys) rs1568611349
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+47G>A rs368167279
NM_000527.5(LDLR):c.1987+8dup rs879255099
NM_000527.5(LDLR):c.1988-1G>A rs1555807335
NM_000527.5(LDLR):c.1988-1G>C rs1555807335
NM_000527.5(LDLR):c.1988-2A>G rs879255101
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.1988G>C (p.Gly663Ala) 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_2002del (p.Cys667_Glu668delinsTer) rs1600743301
NM_000527.5(LDLR):c.2001_2007del (p.Trp666_Cys667insTer) rs879255108
NM_000527.5(LDLR):c.2001del (p.Cys667fs) rs1060500988
NM_000527.5(LDLR):c.2007G>T (p.Arg669Ser)
NM_000527.5(LDLR):c.2009C>T (p.Thr670Ile)
NM_000527.5(LDLR):c.2011del (p.Thr671fs) rs1555807356
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.2022dup (p.Gly675fs) rs2147265977
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.2026G>T (p.Gly676Cys) rs745753810
NM_000527.5(LDLR):c.2027del (p.Gly676fs) rs875989937
NM_000527.5(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
NM_000527.5(LDLR):c.2030G>A (p.Cys677Tyr) rs875989938
NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe) rs875989938
NM_000527.5(LDLR):c.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.2039T>C (p.Leu680Pro) rs1555807379
NM_000527.5(LDLR):c.203G>T (p.Cys68Phe) rs2077229853
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.2044C>T (p.Leu682Phe) rs1131692220
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.2050_2063delinsC (p.Ala684fs) rs1555807390
NM_000527.5(LDLR):c.2050del (p.Ala684fs) rs1555807388
NM_000527.5(LDLR):c.2051C>T (p.Ala684Val)
NM_000527.5(LDLR):c.2052C>G (p.Ala684=) rs760034984
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>A (p.Pro685Gln) rs28942084
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>G (p.Gln686Glu) rs879255126
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.2059A>T (p.Ile687Phe) rs1060499932
NM_000527.5(LDLR):c.2060del (p.Ile687fs) rs879255127
NM_000527.5(LDLR):c.2060dup (p.Asn688fs) rs751228587
NM_000527.5(LDLR):c.2061del (p.Asn688fs) rs1131692221
NM_000527.5(LDLR):c.2062_2063insC (p.Asn688fs) rs1555807421
NM_000527.5(LDLR):c.2063A>G (p.Asn688Ser)
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.2068dup (p.His690fs)
NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter) rs369943481
NM_000527.5(LDLR):c.2073G>A (p.Ser691=) rs146869252
NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs) rs879255131
NM_000527.5(LDLR):c.2078A>G (p.Lys693Arg)
NM_000527.5(LDLR):c.2078dup (p.Phe694fs) rs1057519682
NM_000527.5(LDLR):c.2079G>A (p.Lys693=) rs551528700
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.2085del (p.Cys696fs) rs1057519683
NM_000527.5(LDLR):c.2086T>C (p.Cys696Arg) rs1555807435
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>A (p.Ala697Thr) rs776217028
NM_000527.5(LDLR):c.2089G>C (p.Ala697Pro) rs776217028
NM_000527.5(LDLR):c.2092T>G (p.Cys698Gly) rs1555807442
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.2106G>C (p.Met702Ile)
NM_000527.5(LDLR):c.2108_2111dup (p.Arg706fs) rs879255140
NM_000527.5(LDLR):c.2108_2114del (p.Leu703fs) rs879255141
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.2116_2117insC (p.Arg706fs) rs1555807465
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.2123T>C (p.Met708Thr) rs373839317
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly) rs1057519684
NM_000527.5(LDLR):c.2129G>A (p.Ser710Asn)
NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser) rs879255144
NM_000527.5(LDLR):c.2131T>G (p.Cys711Gly) 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.2133C>G (p.Cys711Trp)
NM_000527.5(LDLR):c.2134dup (p.Leu712fs) rs1057519685
NM_000527.5(LDLR):c.2140+14C>T rs756150298
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+1_2140+12del rs1555807475
NM_000527.5(LDLR):c.2140+2T>A rs879255147
NM_000527.5(LDLR):c.2140+2T>C rs879255147
NM_000527.5(LDLR):c.2140+30G>A
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2140+85C>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.2141-2A>G
NM_000527.5(LDLR):c.2141-89G>A rs183331751
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.5(LDLR):c.2146G>T (p.Glu716Ter) rs879255149
NM_000527.5(LDLR):c.2149G>A (p.Ala717Thr)
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.2158G>A (p.Ala720Thr)
NM_000527.5(LDLR):c.2164C>T (p.Gln722Ter)
NM_000527.5(LDLR):c.2165A>G (p.Gln722Arg) rs1301407364
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.2178C>A (p.Thr726=) rs1027266368
NM_000527.5(LDLR):c.2178C>T (p.Thr726=) rs1027266368
NM_000527.5(LDLR):c.2178del (p.Val727fs) rs879255156
NM_000527.5(LDLR):c.2180T>A (p.Val727Asp) rs1568614490
NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs) rs1555808044
NM_000527.5(LDLR):c.2184G>C (p.Arg728Ser)
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.2190G>T (p.Lys730Asn)
NM_000527.5(LDLR):c.2191G>A (p.Val731Ile)
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.2200A>G (p.Thr734Ala)
NM_000527.5(LDLR):c.2201_2202del (p.Thr734fs) rs879255163
NM_000527.5(LDLR):c.2205C>T (p.Ala735=) rs763213863
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.2229_2234dup (p.Arg744_Pro745dup) rs1131692222
NM_000527.5(LDLR):c.2230_2232delinsTGG (p.Arg744Trp)
NM_000527.5(LDLR):c.2230del (p.Arg744fs) rs879255167
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_000527.5(LDLR):c.2233C>T (p.Pro745Ser)
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.2242G>C (p.Asp748His)
NM_000527.5(LDLR):c.2249C>T (p.Ser750Phe)
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.5(LDLR):c.2251del (p.Arg751fs) rs1555808107
NM_000527.5(LDLR):c.2253G>A (p.Arg751=) rs1555808114
NM_000527.5(LDLR):c.2253_2256dup (p.Pro753fs) rs1555808111
NM_000527.5(LDLR):c.2259_2264del (p.Gly754_Ala755del)
NM_000527.5(LDLR):c.2259dup (p.Gly754fs) rs1555808118
NM_000527.5(LDLR):c.225T>G (p.Cys75Trp) rs758927662
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp) rs559239150
NM_000527.5(LDLR):c.2263del (p.Ala755fs) rs1555808120
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.2270del (p.Pro757fs) rs1131692223
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
NM_000527.5(LDLR):c.2274del (p.Leu759fs) rs1555808139
NM_000527.5(LDLR):c.2279C>T (p.Thr760Ile) rs1555808147
NM_000527.5(LDLR):c.227_233del (p.Gly76fs) rs2147216927
NM_000527.5(LDLR):c.2282_2309del (p.Thr761fs) rs1555808143
NM_000527.5(LDLR):c.2283G>A (p.Thr761=) rs771325747
NM_000527.5(LDLR):c.2287del (p.Glu763fs) rs1057519686
NM_000527.5(LDLR):c.2287dup (p.Glu763fs) rs1057519686
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_000527.5(LDLR):c.2294T>C (p.Val765Ala)
NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs) rs1057519687
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.2299A>G (p.Met767Val)
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+251_*813del
NM_000527.5(LDLR):c.2311+2T>G rs879255176
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2312-2A>G rs2077660035
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
NM_000527.5(LDLR):c.2317_2318insTA (p.Gly773fs) rs879255177
NM_000527.5(LDLR):c.2318del (p.Gly773fs) rs879255178
NM_000527.5(LDLR):c.231C>T (p.Gly77=) rs1425452256
NM_000527.5(LDLR):c.2322_2342del (p.Asp774_Asn780del) rs879255179
NM_000527.5(LDLR):c.2322del (p.Asp774fs)
NM_000527.5(LDLR):c.2323_2352del (p.Val775_Pro784del) rs1131692224
NM_000527.5(LDLR):c.232del (p.Arg78fs) rs879254442
NM_000527.5(LDLR):c.2333_2334insC (p.Arg778fs)
NM_000527.5(LDLR):c.233del (p.Arg78fs) rs1057516129
NM_000527.5(LDLR):c.2341G>A (p.Glu781Lys)
NM_000527.5(LDLR):c.2343_2347del (p.Lys782fs) rs879255181
NM_000527.5(LDLR):c.2344A>T (p.Lys782Ter) rs875989943
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.2363G>A (p.Arg788Lys)
NM_000527.5(LDLR):c.2364G>T (p.Arg788Ser) rs879255183
NM_000527.5(LDLR):c.2368_2369dup (p.Ser791fs)
NM_000527.5(LDLR):c.2368_2374del (p.Ile792fs) rs2077662026
NM_000527.5(LDLR):c.236dup (p.Asn80fs) rs879254443
NM_000527.5(LDLR):c.2374A>T (p.Ile792Phe) rs761123215
NM_000527.5(LDLR):c.2376del (p.Ile792fs)
NM_000527.5(LDLR):c.2384C>A (p.Pro795His) rs879255184
NM_000527.5(LDLR):c.2385del (p.Ile796fs) rs879255185
NM_000527.5(LDLR):c.2386A>G (p.Ile796Val)
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+46C>T
NM_000527.5(LDLR):c.2389+47G>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.2389+6C>T
NM_000527.5(LDLR):c.2389+7G>A
NM_000527.5(LDLR):c.2389+9G>A rs768455845
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.2390-9T>C
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.2393_2409del (p.Leu798fs) rs1131692225
NM_000527.5(LDLR):c.2394_2401del (p.Leu799fs) rs1555809471
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.2400dup (p.Phe801fs) rs1600765031
NM_000527.5(LDLR):c.2402_2403del (p.Phe801fs) rs1057519689
NM_000527.5(LDLR):c.2402del (p.Phe801fs) rs1555809490
NM_000527.5(LDLR):c.2403_2406del (p.Leu802fs) rs879255200
NM_000527.5(LDLR):c.2406T>A (p.Leu802=)
NM_000527.5(LDLR):c.2407T>C (p.Cys803Arg) rs1060499930
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.5(LDLR):c.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.2413G>C (p.Gly805Arg) rs879255204
NM_000527.5(LDLR):c.2416G>C (p.Val806Leu)
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.2422C>G (p.Leu808Val) rs1131692226
NM_000527.5(LDLR):c.2422_2425del (p.Leu808fs) rs1555809520
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.2433G>C (p.Lys811Asn)
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.2442G>A (p.Arg814=)
NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln) rs879255213
NM_000527.5(LDLR):c.2446A>G (p.Lys816Glu)
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.244_246del (p.Cys82del) rs1568591929
NM_000527.5(LDLR):c.244_250dup (p.Pro84fs) rs1057519653
NM_000527.5(LDLR):c.244del (p.Cys82fs) rs879254446
NM_000527.5(LDLR):c.2456A>G (p.Asn819Ser)
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>C (p.Cys82Ser)
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe) rs879254448
NM_000527.5(LDLR):c.2465A>G (p.Asn822Ser)
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.2476C>T (p.Pro826Ser) 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.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.2480T>A (p.Val827Asp) rs2077688361
NM_000527.5(LDLR):c.2482T>C (p.Tyr828His) rs879255218
NM_000527.5(LDLR):c.2482dup (p.Tyr828fs) rs1057519690
NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser) rs28942085
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.2487G>C (p.Gln829His) rs2147287215
NM_000527.5(LDLR):c.248T>C (p.Ile83Thr) rs1555802745
NM_000527.5(LDLR):c.2494A>G (p.Thr832Ala)
NM_000527.5(LDLR):c.2500_2502delinsC (p.Asp834fs) rs879255219
NM_000527.5(LDLR):c.2500del (p.Asp834fs) rs1555809594
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.2511C>T (p.His837=)
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.251_252insCATTCTG (p.Gln85fs) rs1131692191
NM_000527.5(LDLR):c.2523C>G (p.Asn841Lys)
NM_000527.5(LDLR):c.2525A>G (p.Gln842Arg)
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.2542C>T (p.Pro848Ser)
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+2T>G rs2147287476
NM_000527.5(LDLR):c.2547+3G>C rs879255225
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000527.5(LDLR):c.2547+5G>C rs879255226
NM_000527.5(LDLR):c.2548-12A>C
NM_000527.5(LDLR):c.2548-19G>A
NM_000527.5(LDLR):c.2548-23C>T
NM_000527.5(LDLR):c.2548-2A>G rs879255227
NM_000527.5(LDLR):c.2548-8G>C rs1249096480
NM_000527.5(LDLR):c.2549G>A (p.Arg850Lys) rs879255228
NM_000527.5(LDLR):c.254A>G (p.Gln85Arg)
NM_000527.5(LDLR):c.2551_2554del (p.Gln851fs) rs878854029
NM_000527.5(LDLR):c.2552del (p.Gln851fs) rs879255229
NM_000527.5(LDLR):c.2557del (p.Val853fs)
NM_000527.5(LDLR):c.255G>T (p.Gln85His) rs879254450
NM_000527.5(LDLR):c.2560A>G (p.Ser854Gly)
NM_000527.5(LDLR):c.2563C>A (p.Leu855Met) rs775803775
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.2580G>A (p.Ala860=) rs1285017808
NM_000527.5(LDLR):c.259T>C (p.Trp87Arg) rs121908025
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.262A>G (p.Arg88Gly) rs200660051
NM_000527.5(LDLR):c.263G>A (p.Arg88Lys) rs1398808477
NM_000527.5(LDLR):c.264G>A (p.Arg88=)
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>C (p.Asp90Ala) rs771019366
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.5(LDLR):c.270T>C (p.Asp90=) rs372828849
NM_000527.5(LDLR):c.271G>A (p.Gly91Ser)
NM_000527.5(LDLR):c.272del (p.Gly91fs) rs1568592055
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.292G>T (p.Gly98Cys) 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.29G>A (p.Trp10Ter) rs1555800724
NM_000527.5(LDLR):c.2T>C (p.Met1Thr) rs1555800701
NM_000527.5(LDLR):c.300C>A (p.Asp100Glu) rs766709484
NM_000527.5(LDLR):c.300C>G (p.Asp100Glu) rs766709484
NM_000527.5(LDLR):c.301G>T (p.Glu101Ter) rs144172724
NM_000527.5(LDLR):c.301del (p.Glu101fs) rs879254461
NM_000527.5(LDLR):c.303G>A (p.Glu101=) rs1600705245
NM_000527.5(LDLR):c.303G>T (p.Glu101Asp)
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.308G>T (p.Gly103Val)
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>C (p.Cys104Ser) 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+4_313+16del rs1555802822
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.313_313+1delinsTC
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.314-1G>T rs879254471
NM_000527.5(LDLR):c.314-2A>T rs879254470
NM_000527.5(LDLR):c.314-3C>T rs879254469
NM_000527.5(LDLR):c.314-446_1187-386dup
NM_000527.5(LDLR):c.314-50_1186+50dup
NM_000527.5(LDLR):c.314-62_1186+60dup
NM_000527.5(LDLR):c.314-9T>A
NM_000527.5(LDLR):c.316_336del (p.Pro106_Asp112del) rs879254472
NM_000527.5(LDLR):c.318_336del (p.Lys107fs) rs1131692192
NM_000527.5(LDLR):c.318del (p.Lys107fs) rs875989898
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.324G>A (p.Thr108=) rs146517429
NM_000527.5(LDLR):c.324G>T (p.Thr108=) rs146517429
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.325T>G (p.Cys109Gly) rs140807148
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.327C>A (p.Cys109Ter) rs1057519654
NM_000527.5(LDLR):c.327dup (p.Ser110fs) rs879254478
NM_000527.5(LDLR):c.330C>G (p.Ser110=) rs768109825
NM_000527.5(LDLR):c.335_344del (p.Asp112fs) rs879254479
NM_000527.5(LDLR):c.336C>A (p.Asp112Glu)
NM_000527.5(LDLR):c.336C>T (p.Asp112=) rs747806084
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.337dup (p.Glu113fs) rs752191968
NM_000527.5(LDLR):c.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.340T>A (p.Phe114Ile) rs776716507
NM_000527.5(LDLR):c.340_344del (p.Phe114fs) rs1057516132
NM_000527.5(LDLR):c.345C>T (p.Arg115=) rs150144164
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.352G>A (p.Asp118Asn) rs730882080
NM_000527.5(LDLR):c.353A>C (p.Asp118Ala)
NM_000527.5(LDLR):c.353del (p.Asp118fs) rs879254488
NM_000527.5(LDLR):c.354T>C (p.Asp118=) rs2077267881
NM_000527.5(LDLR):c.354_356del (p.Asp118_Gly119delinsGlu) rs879254489
NM_000527.5(LDLR):c.355G>A (p.Gly119Arg) rs869320648
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.362_376del (p.Cys121_Gln125del) rs1555803186
NM_000527.5(LDLR):c.363C>G (p.Cys121Trp) rs1555803191
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.367T>C (p.Ser123Pro) 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.370dup (p.Arg124fs) rs1057516133
NM_000527.5(LDLR):c.371G>C (p.Arg124Pro) rs929536329
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.373_379del (p.Gln125fs) rs2147223487
NM_000527.5(LDLR):c.374_375insCTGA (p.Gln125delinsHisTer) rs879254500
NM_000527.5(LDLR):c.375G>A (p.Gln125=) rs2147223505
NM_000527.5(LDLR):c.375G>C (p.Gln125His)
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.377T>C (p.Phe126Ser) rs879254502
NM_000527.5(LDLR):c.378C>A (p.Phe126Leu) rs762139262
NM_000527.5(LDLR):c.378del (p.Phe126fs) rs1555803213
NM_000527.5(LDLR):c.379del (p.Val127fs) rs878854028
NM_000527.5(LDLR):c.380T>A (p.Val127Asp) rs879254503
NM_000527.5(LDLR):c.380T>G (p.Val127Gly) rs879254503
NM_000527.5(LDLR):c.381C>T (p.Val127=)
NM_000527.5(LDLR):c.382T>C (p.Cys128Arg) rs879254505
NM_000527.5(LDLR):c.382T>G (p.Cys128Gly) rs879254505
NM_000527.5(LDLR):c.382_385del (p.Cys128fs) rs879254504
NM_000527.5(LDLR):c.383G>A (p.Cys128Tyr) rs879254506
NM_000527.5(LDLR):c.383G>C (p.Cys128Ser) rs879254506
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.397G>T (p.Asp133Tyr)
NM_000527.5(LDLR):c.397dup (p.Asp133fs) rs879254512
NM_000527.5(LDLR):c.399C>T (p.Asp133=) rs2077269856
NM_000527.5(LDLR):c.3G>A (p.Met1Ile) rs879254383
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.400T>G (p.Cys134Gly) rs875989900
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr) rs879254514
NM_000527.5(LDLR):c.401G>C (p.Cys134Ser) 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.402C>T (p.Cys134=) 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.413C>A (p.Ser138Ter) rs755799528
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>A (p.Asp139Glu) rs537484504
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.421G>A (p.Ala141Thr)
NM_000527.5(LDLR):c.424_430del (p.Ser142fs) rs879254521
NM_000527.5(LDLR):c.426C>A (p.Ser142=) rs1555803245
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.428G>C (p.Cys143Ser) rs879254522
NM_000527.5(LDLR):c.428G>T (p.Cys143Phe) rs879254522
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu) rs912448894
NM_000527.5(LDLR):c.431_434dup (p.Leu146fs) rs879254523
NM_000527.5(LDLR):c.432G>C (p.Pro144=) rs769228052
NM_000527.5(LDLR):c.432G>T (p.Pro144=)
NM_000527.5(LDLR):c.433dup (p.Val145fs) rs2077271255
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.440_450dup (p.Ala151fs) rs1555803254
NM_000527.5(LDLR):c.441C>T (p.Thr147=) rs2147223916
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.5(LDLR):c.442_504del (p.Cys148_Asp168del) rs1555803257
NM_000527.5(LDLR):c.442_504delinsA (p.Cys148fs) rs1555803259
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>C (p.Gly149Arg) rs879254529
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>A (p.Cys155Ser) rs879254535
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.467del (p.Asn156fs) rs1057516135
NM_000527.5(LDLR):c.46C>G (p.Leu16Val) rs2077058105
NM_000527.5(LDLR):c.470G>A (p.Ser157Asn) rs1555803280
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>A (p.Cys160Ser) rs879254540
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.479G>T (p.Cys160Phe) rs879254541
NM_000527.5(LDLR):c.479_480delinsTT (p.Cys160Phe) rs1135402767
NM_000527.5(LDLR):c.47T>C (p.Leu16Pro) rs879254391
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn) rs754933794
NM_000527.5(LDLR):c.482T>C (p.Ile161Thr) rs754933794
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.487C>T (p.Gln163Ter)
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.494G>A (p.Trp165Ter)
NM_000527.5(LDLR):c.495G>A (p.Trp165Ter) rs879254546
NM_000527.5(LDLR):c.496G>A (p.Ala166Thr) rs2077273342
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg) rs879254547
NM_000527.5(LDLR):c.49G>A (p.Ala17Thr)
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>C (p.Asp168Ala)
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.510C>A (p.Asp170Glu) rs1060499931
NM_000527.5(LDLR):c.512C>T (p.Pro171Leu)
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.518G>C (p.Cys173Ser) 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):