ClinVar Miner

List of variants in gene LDLR reported by Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 686
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HGVS dbSNP
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.-13A>G rs376011618
NM_000527.4(LDLR):c.-150A>G rs1555800632
NM_000527.4(LDLR):c.-151C>G rs1555800631
NM_000527.4(LDLR):c.-152C>T rs879254367
NM_000527.4(LDLR):c.-172G>A rs1555800629
NM_000527.4(LDLR):c.-187_-185del rs1270618112
NM_000527.4(LDLR):c.-188C>T rs878854023
NM_000527.4(LDLR):c.-193_-187delinsTG rs1555800620
NM_000527.4(LDLR):c.-98C>T rs1555800648
NM_000527.4(LDLR):c.1002C>T (p.Ile334=) rs762853526
NM_000527.4(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.4(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1028G>T (p.Gly343Val) rs879254760
NM_000527.4(LDLR):c.1033C>T (p.Gln345Ter) rs875989913
NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter) rs769737896
NM_000527.4(LDLR):c.1050A>C (p.Arg350=) rs1555804560
NM_000527.4(LDLR):c.1054T>C (p.Cys352Arg) rs879254769
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.4(LDLR):c.1056C>T (p.Cys352=) rs13306515
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1060+109T>G rs10401667
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+40G>A rs192390193
NM_000527.4(LDLR):c.1060+7= rs2738442
NM_000527.4(LDLR):c.1061-8T>A rs72658861
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.4(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.4(LDLR):c.1063A>G (p.Ile355Val) rs879254776
NM_000527.4(LDLR):c.1064dup (p.Asp356fs) rs1555804700
NM_000527.4(LDLR):c.1066G>A (p.Asp356Asn) rs767767730
NM_000527.4(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.4(LDLR):c.1067A>T (p.Asp356Val) rs879254777
NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1070A>G (p.Glu357Gly) rs753248521
NM_000527.4(LDLR):c.1072T>C (p.Cys358Arg) rs879254783
NM_000527.4(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.4(LDLR):c.1080T>G (p.Asp360Glu) rs749322464
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1085del (p.Asp362fs) rs879254786
NM_000527.4(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.4(LDLR):c.108C>T (p.Asp36=) rs373144619
NM_000527.4(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
NM_000527.4(LDLR):c.1092C>T (p.Cys364=) rs1555804729
NM_000527.4(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.4(LDLR):c.1102T>G (p.Cys368Gly) rs879254791
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1103G>C (p.Cys368Ser) rs768430352
NM_000527.4(LDLR):c.1104C>A (p.Cys368Ter) rs113669610
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.4(LDLR):c.1135T>C (p.Cys379Arg) rs879254803
NM_000527.4(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.4(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.4(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.4(LDLR):c.1154T>C (p.Leu385Pro) rs879254809
NM_000527.4(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.4(LDLR):c.115T>C (p.Cys39Arg) rs1555802275
NM_000527.4(LDLR):c.1166C>T (p.Thr389Met) rs149227308
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.4(LDLR):c.1186+106G>A rs191859969
NM_000527.4(LDLR):c.1186+5G>A rs879254821
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1187-48A>G rs376882446
NM_000527.4(LDLR):c.1187-9G>C rs896885804
NM_000527.4(LDLR):c.1187G>A (p.Gly396Asp) rs766474188
NM_000527.4(LDLR):c.1187del rs1057519667
NM_000527.4(LDLR):c.1189T>A (p.Ser397Thr) rs879254825
NM_000527.4(LDLR):c.1195G>A (p.Ala399Thr) rs730882099
NM_000527.4(LDLR):c.1195G>T (p.Ala399Ser) rs730882099
NM_000527.4(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.4(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.4(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.4(LDLR):c.1200C>A (p.Tyr400Ter) rs879254827
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.4(LDLR):c.1206_1207delCT (p.F402Ffs*37) rs879254829
NM_000527.4(LDLR):c.1207T>C (p.Phe403Leu) rs879254831
NM_000527.4(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.4(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.4(LDLR):c.1217G>C (p.Arg406Pro) rs552422789
NM_000527.4(LDLR):c.1221C>T (p.His407=) rs778424518
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1234A>C (p.Met412Leu) rs1225797407
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.123C>T (p.Ser41=) rs1555802284
NM_000527.4(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
NM_000527.4(LDLR):c.1243G>C (p.Asp415His) rs879254844
NM_000527.4(LDLR):c.1244A>G (p.Asp415Gly) rs879254845
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.4(LDLR):c.1247G>C (p.Arg416Pro) rs773658037
NM_000527.4(LDLR):c.1247G>T (p.Arg416Leu) rs773658037
NM_000527.4(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.4(LDLR):c.1265T>C (p.Leu422Pro) rs879254848
NM_000527.4(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.4(LDLR):c.126C>A (p.Tyr42Ter) rs751317621
NM_000527.4(LDLR):c.1274A>T (p.Asn425Ile) rs879254850
NM_000527.4(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.4(LDLR):c.1295T>C (p.Leu432Pro) rs879254855
NM_000527.4(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.4(LDLR):c.1297G>T (p.Asp433Tyr) rs121908036
NM_000527.4(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.4(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1322T>A (p.Ile441Asn) rs879254862
NM_000527.4(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.4(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.132G>A (p.Trp44Ter) rs1555802287
NM_000527.4(LDLR):c.1330T>C (p.Ser444Pro) rs875989919
NM_000527.4(LDLR):c.1336C>T (p.Leu446=) rs375651668
NM_000527.4(LDLR):c.1340C>G (p.Ser447Cys) rs879254870
NM_000527.4(LDLR):c.1342C>A (p.Gln448Lys) rs879254871
NM_000527.4(LDLR):c.1342C>T (p.Gln448Ter) rs879254871
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.1358+1G>A rs775924858
NM_000527.4(LDLR):c.1358+2T>A rs193922567
NM_000527.4(LDLR):c.1367T>C (p.Leu456Pro) rs200143634
NM_000527.4(LDLR):c.136T>G (p.Cys46Gly) rs879254415
NM_000527.4(LDLR):c.1379_1394delinsCAGCT (p.His460fs) rs1555805337
NM_000527.4(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101
NM_000527.4(LDLR):c.1393del (p.Tyr465fs) rs1555805348
NM_000527.4(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.4(LDLR):c.139G>A (p.Asp47Asn) rs778284147
NM_000527.4(LDLR):c.139G>C (p.Asp47His) rs778284147
NM_000527.4(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.4(LDLR):c.1413A>G (p.Arg471=) rs5930
NM_000527.4(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs) rs1555805360
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1420C>T (p.Gln474Ter) rs201967266
NM_000527.4(LDLR):c.1426C>T (p.Pro476Ser) rs879254898
NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.4(LDLR):c.1431C>T (p.Asp477=) rs368610522
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1433G>A (p.Gly478Glu) rs1555805380
NM_000527.4(LDLR):c.1434del (p.Leu479fs) rs879254899
NM_000527.4(LDLR):c.1435C>G (p.Leu479Val) rs1254928151
NM_000527.4(LDLR):c.1438G>A (p.Ala480Thr) rs879254901
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.4(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.4(LDLR):c.1448G>T (p.Trp483Leu) rs875989921
NM_000527.4(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) rs879254913
NM_000527.4(LDLR):c.1466A>G (p.Tyr489Cys) rs879254914
NM_000527.4(LDLR):c.1467C>A (p.Tyr489Ter) rs370777955
NM_000527.4(LDLR):c.1470G>A (p.Trp490Ter) rs879254915
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.4(LDLR):c.1478_1479delCT (p.S493Cfs*41) rs869025453
NM_000527.4(LDLR):c.1486_1487del (p.Gly496fs) rs869025454
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.148del (p.Ala50fs) rs879254417
NM_000527.4(LDLR):c.1491T>C (p.Thr497=) rs145252288
NM_000527.4(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.4(LDLR):c.1504G>T (p.Asp502Tyr) rs879254925
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1516G>A (p.Val506Met) rs373848925
NM_000527.4(LDLR):c.1520A>C (p.Lys507Thr) rs879254929
NM_000527.4(LDLR):c.1521G>C (p.Lys507Asn) rs1555805490
NM_000527.4(LDLR):c.1525A>G (p.Lys509Glu) rs879254931
NM_000527.4(LDLR):c.1546G>A (p.Gly516Ser) rs141673997
NM_000527.4(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1570_1579del (p.Val524fs) rs1555805530
NM_000527.4(LDLR):c.1571_1586+3dup rs1555805531
NM_000527.4(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.4(LDLR):c.1577C>G (p.Pro526Arg) rs879254944
NM_000527.4(LDLR):c.157C>T (p.Gln53Ter) rs879254419
NM_000527.4(LDLR):c.1586+1G>A rs755389753
NM_000527.4(LDLR):c.1586+1G>T rs755389753
NM_000527.4(LDLR):c.1586+2T>C rs879254945
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.1597T>C (p.Trp533Arg) rs879254951
NM_000527.4(LDLR):c.1601C>A (p.Thr534Asn) rs879254954
NM_000527.4(LDLR):c.1603G>A (p.Asp535Asn) rs879254955
NM_000527.4(LDLR):c.1603G>T (p.Asp535Tyr) rs879254955
NM_000527.4(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
NM_000527.4(LDLR):c.1620dup (p.Lys541fs) rs1555805985
NM_000527.4(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.4(LDLR):c.1633G>C (p.Gly545Arg) rs879254965
NM_000527.4(LDLR):c.1637G>A (p.Gly546Asp) rs28942081
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1646G>T (p.Gly549Val) rs28941776
NM_000527.4(LDLR):c.1658A>G (p.Tyr553Cys) rs879254974
NM_000527.4(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_000527.4(LDLR):c.165C>G (p.Gly55=) rs150644181
NM_000527.4(LDLR):c.1678A>T (p.Ile560Phe) rs1131692213
NM_000527.4(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.4(LDLR):c.1683del (p.Gln561fs) rs879254982
NM_000527.4(LDLR):c.1684_1686dup (p.Trp562dup) rs879254983
NM_000527.4(LDLR):c.1685G>A (p.Trp562Ter) rs875989925
NM_000527.4(LDLR):c.1688C>A (p.Pro563His) rs879254987
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.4(LDLR):c.1691A>G (p.Asn564Ser) rs758194385
NM_000527.4(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.4(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.4(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.4(LDLR):c.1703T>C (p.Leu568Pro) rs879254991
NM_000527.4(LDLR):c.1705+1G>T rs875989926
NM_000527.4(LDLR):c.1705+2T>C rs1555806110
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1706-1G>A rs879254996
NM_000527.4(LDLR):c.1706-2A>C rs878854027
NM_000527.4(LDLR):c.1706-2A>T rs878854027
NM_000527.4(LDLR):c.1706-55A>C rs2738447
NM_000527.4(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.4(LDLR):c.1725C>T (p.Leu575=) rs1799898
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.4(LDLR):c.172G>T (p.Glu58Ter) rs879254423
NM_000527.4(LDLR):c.1730G>C (p.Trp577Ser) rs138947766
NM_000527.4(LDLR):c.1743A>T (p.Lys581Asn) rs1555806428
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1753del (p.Ile585fs) rs1555806448
NM_000527.4(LDLR):c.1754T>A (p.Ile585Asn) rs879255012
NM_000527.4(LDLR):c.1759del (p.Ser587fs) rs879255014
NM_000527.4(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1769_1774del (p.Val590_Asn591del) rs1555806467
NM_000527.4(LDLR):c.1773C>T (p.Asn591=) rs688
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1784G>T (p.Arg595Leu) rs201102492
NM_000527.4(LDLR):c.1789del (p.Thr597fs) rs879255022
NM_000527.4(LDLR):c.178C>T (p.Gln60Ter) rs794728585
NM_000527.4(LDLR):c.178del (p.Gln60fs) rs1555802312
NM_000527.4(LDLR):c.1792A>C (p.Ile598Leu) rs879255023
NM_000527.4(LDLR):c.1793T>A (p.Ile598Asn) rs879255024
NM_000527.4(LDLR):c.1802A>G (p.Asp601Gly) rs879255027
NM_000527.4(LDLR):c.1808A>G (p.Lys603Arg) rs1302327551
NM_000527.4(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1817C>A (p.Ala606Asp) rs1410295777
NM_000527.4(LDLR):c.1820A>G (p.His607Arg) rs879255033
NM_000527.4(LDLR):c.1823C>T (p.Pro608Leu) rs879255035
NM_000527.4(LDLR):c.1825T>C (p.Phe609Leu) rs879255036
NM_000527.4(LDLR):c.1829C>G (p.Ser610Cys) rs879255038
NM_000527.4(LDLR):c.1833G>C (p.Leu611Phe) rs879255041
NM_000527.4(LDLR):c.1834G>T (p.Ala612Ser) rs879255042
NM_000527.4(LDLR):c.1835C>T (p.Ala612Val) rs377449975
NM_000527.4(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1837G>A (p.Val613Ile) rs148181903
NM_000527.4(LDLR):c.1842_1845+2del rs1555806582
NM_000527.4(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.4(LDLR):c.1845+15C>A rs759867686
NM_000527.4(LDLR):c.1845+1G>A rs879255049
NM_000527.4(LDLR):c.1845+1G>C rs879255049
NM_000527.4(LDLR):c.1845+2T>A rs778408161
NM_000527.4(LDLR):c.1845+2T>C rs778408161
NM_000527.4(LDLR):c.1853_1864del (p.Val618_Thr621del) rs879255052
NM_000527.4(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.4(LDLR):c.1856T>C (p.Phe619Ser) rs879255054
NM_000527.4(LDLR):c.1856T>G (p.Phe619Cys) rs879255054
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1863A>C (p.Thr621=) rs768509914
NM_000527.4(LDLR):c.1865_1866AT[1] (p.Ile623fs) rs879255061
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1868T>C (p.Ile623Thr) rs141155833
NM_000527.4(LDLR):c.1868_1870TCA[1] (p.Ile624del) rs879255062
NM_000527.4(LDLR):c.1878delA (p.E626Efs*38) rs1057516134
NM_000527.4(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.4(LDLR):c.188G>T (p.Cys63Phe) rs879254427
NM_000527.4(LDLR):c.1892C>A (p.Ala631Asp) rs879255070
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.4(LDLR):c.1898G>T (p.Arg633Leu) rs754536745
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.190+56G>A rs3745677
NM_000527.4(LDLR):c.190+5G>A rs1131692190
NM_000527.4(LDLR):c.191-1G>T rs879254433
NM_000527.4(LDLR):c.191-2A>G rs544203837
NM_000527.4(LDLR):c.191-50C>T rs374168004
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1937T>A (p.Leu646Gln) rs1555807261
NM_000527.4(LDLR):c.1943C>T (p.Ser648Phe) rs1555807266
NM_000527.4(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.4(LDLR):c.1952_1953AT[1] (p.Met652fs) rs875989935
NM_000527.4(LDLR):c.1954A>G (p.Met652Val) rs730882111
NM_000527.4(LDLR):c.1959T>C (p.Val653=) rs5925
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.1976C>A (p.Thr659Asn) rs879255094
NM_000527.4(LDLR):c.1978C>A (p.Gln660Lys) rs193922569
NM_000527.4(LDLR):c.1987+47G>A rs368167279
NM_000527.4(LDLR):c.1988-1G>A rs1555807335
NM_000527.4(LDLR):c.1988-1G>C rs1555807335
NM_000527.4(LDLR):c.1996_2012del (p.Trp666fs) rs879255104
NM_000527.4(LDLR):c.1997G>A (p.Trp666Ter) rs879255105
NM_000527.4(LDLR):c.1998G>A (p.Trp666Ter) rs752935814
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.1A>C (p.Met1Leu) rs879254382
NM_000527.4(LDLR):c.1A>G (p.Met1Val) rs879254382
NM_000527.4(LDLR):c.1A>T (p.Met1Leu) rs879254382
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.4(LDLR):c.2026G>C (p.Gly676Arg) rs745753810
NM_000527.4(LDLR):c.2026G>T (p.Gly676Cys) rs745753810
NM_000527.4(LDLR):c.2032C>T (p.Gln678Ter) rs879255114
NM_000527.4(LDLR):c.2033_2044del (p.Gln678_Cys681del) rs879255115
NM_000527.4(LDLR):c.2039T>C (p.Leu680Pro) rs1555807379
NM_000527.4(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2050G>A (p.Ala684Thr) rs774730452
NM_000527.4(LDLR):c.2050_2063del (p.Ala684fs) rs879255121
NM_000527.4(LDLR):c.2050_2063delinsC (p.Ala684fs) rs1555807390
NM_000527.4(LDLR):c.2050del (p.Ala684fs) rs1555807388
NM_000527.4(LDLR):c.2053C>A (p.Pro685Thr) rs2569548
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.4(LDLR):c.2060del (p.Ile687fs) rs879255127
NM_000527.4(LDLR):c.2062_2063insC (p.Asn688fs) rs1555807421
NM_000527.4(LDLR):c.2063del (p.Asn688fs) rs879255128
NM_000527.4(LDLR):c.2068C>G (p.His690Asp) rs757009067
NM_000527.4(LDLR):c.2077_2078del (p.Lys693fs) rs879255131
NM_000527.4(LDLR):c.2089G>A (p.Ala697Thr) rs776217028
NM_000527.4(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.4(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.4(LDLR):c.2116_2117insC (p.Arg706fs) rs1555807465
NM_000527.4(LDLR):c.211G>A (p.Gly71Arg) rs766903209
NM_000527.4(LDLR):c.2131T>A (p.Cys711Ser) rs879255144
NM_000527.4(LDLR):c.2131T>G (p.Cys711Gly) rs879255144
NM_000527.4(LDLR):c.2132G>A (p.Cys711Tyr) rs879255145
NM_000527.4(LDLR):c.2132G>T (p.Cys711Phe) rs879255145
NM_000527.4(LDLR):c.2140+1_2140+12del rs1555807475
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2141-89G>A rs183331751
NM_000527.4(LDLR):c.2141_2311del171 (p.Glu714_Gln770del) rs1555808008
NM_000527.4(LDLR):c.2164C>T (p.Gln722Ter) rs879255152
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2178del (p.Val727fs) rs879255156
NM_000527.4(LDLR):c.2206G>A (p.Val736Ile) rs547268730
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2232A>G (p.Arg744=) rs5927
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.4(LDLR):c.2251del (p.Arg751fs) rs1555808107
NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.4(LDLR):c.2253G>A (p.Arg751=) rs1555808114
NM_000527.4(LDLR):c.2259dup (p.Gly754fs) rs1555808118
NM_000527.4(LDLR):c.2260G>A (p.Gly754Arg) rs559239150
NM_000527.4(LDLR):c.2263del (p.Ala755fs) rs1555808120
NM_000527.4(LDLR):c.2274del (p.Leu759fs) rs1555808139
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_000527.4(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.4(LDLR):c.2308C>T (p.Gln770Ter) rs763625913
NM_000527.4(LDLR):c.230del (p.Gly77fs) rs879254440
NM_000527.4(LDLR):c.2311+1G>T rs879255175
NM_000527.4(LDLR):c.2312-3C>A rs875989942
NM_000527.4(LDLR):c.2312-3C>T rs875989942
NM_000527.4(LDLR):c.2324T>C (p.Val775Ala) rs780300776
NM_000527.4(LDLR):c.232del (p.Arg78fs) rs879254442
NM_000527.4(LDLR):c.2389+46C>T rs2738460
NM_000527.4(LDLR):c.2389+4A>G rs758493597
NM_000527.4(LDLR):c.2389+5G>A rs879255191
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.4(LDLR):c.2390-1G>C rs879255193
NM_000527.4(LDLR):c.2390-2A>G rs767790696
NM_000527.4(LDLR):c.2394_2401del (p.Leu799fs) rs1555809471
NM_000527.4(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.2402del (p.Phe801fs) rs1555809490
NM_000527.4(LDLR):c.2403_2406del (p.Leu802fs) rs879255200
NM_000527.4(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.4(LDLR):c.2411T>C (p.Leu804Pro) rs879255203
NM_000527.4(LDLR):c.2413G>C (p.Gly805Arg) rs879255204
NM_000527.4(LDLR):c.2417_2418insG (p.Phe807fs) rs879255207
NM_000527.4(LDLR):c.2418_2421CTTC[1] (p.Leu808fs) rs1555809520
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2427A>G (p.Leu809=) rs147191787
NM_000527.4(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.4(LDLR):c.2431A>T (p.Lys811Ter) rs879255211
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2446A>C (p.Lys816Gln) rs879255213
NM_000527.4(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294
NM_000527.4(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.4(LDLR):c.2476C>T (p.Pro826Ser) rs879255217
NM_000527.4(LDLR):c.2478dup (p.Val827fs) rs747344293
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.2483A>G (p.Tyr828Cys) rs28942085
NM_000527.4(LDLR):c.248T>C (p.Ile83Thr) rs1555802745
NM_000527.4(LDLR):c.2500del (p.Asp834fs) rs1555809594
NM_000527.4(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.4(LDLR):c.250C>T (p.Pro84Ser) rs879254449
NM_000527.4(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.4(LDLR):c.2530G>A (p.Gly844Ser) rs1555809614
NM_000527.4(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.4(LDLR):c.2547+1G>A rs879255224
NM_000527.4(LDLR):c.2547+5G>A rs879255226
NM_000527.4(LDLR):c.259T>C (p.Trp87Arg) rs121908025
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.261G>A (p.Trp87Ter) rs199570811
NM_000527.4(LDLR):c.262A>G (p.Arg88Gly) rs200660051
NM_000527.4(LDLR):c.263G>A (p.Arg88Lys) rs1398808477
NM_000527.4(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.269A>C (p.Asp90Ala) rs771019366
NM_000527.4(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.4(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.283T>C (p.Cys95Arg) rs879254456
NM_000527.4(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.4(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.4(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.4(LDLR):c.291C>T (p.Asn97=) rs372845091
NM_000527.4(LDLR):c.292G>A (p.Gly98Ser) rs750474121
NM_000527.4(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.4(LDLR):c.299A>G (p.Asp100Gly) rs879254460
NM_000527.4(LDLR):c.29G>A (p.Trp10Ter) rs1555800724
NM_000527.4(LDLR):c.300C>G (p.Asp100Glu) rs766709484
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.301G>T (p.Glu101Ter) rs144172724
NM_000527.4(LDLR):c.303del (p.Glu101fs) rs764797225
NM_000527.4(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.4(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+1G>C rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.313+2dupT rs875989897
NM_000527.4(LDLR):c.313+4_313+16del rs1555802822
NM_000527.4(LDLR):c.313+5G>T rs879254467
NM_000527.4(LDLR):c.314-1G>A rs879254471
NM_000527.4(LDLR):c.314-3C>T rs879254469
NM_000527.4(LDLR):c.320_332del (p.Lys107fs) rs879254474
NM_000527.4(LDLR):c.324G>A (p.Thr108=) rs146517429
NM_000527.4(LDLR):c.324G>C (p.Thr108=) rs146517429
NM_000527.4(LDLR):c.324G>T (p.Thr108=) rs146517429
NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.4(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.4(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.337dup (p.Glu113fs) rs752191968
NM_000527.4(LDLR):c.340_344delTTTCG (p.F114Lfs*13) rs1057516132
NM_000527.4(LDLR):c.343C>T (p.Arg115Cys) rs774723292
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.345C>T (p.Arg115=) rs150144164
NM_000527.4(LDLR):c.347_349del (p.Cys116_His117delinsTyr) rs879254483
NM_000527.4(LDLR):c.351C>T (p.His117=) rs200258458
NM_000527.4(LDLR):c.363C>G (p.Cys121Trp) rs1555803191
NM_000527.4(LDLR):c.370C>G (p.Arg124Gly) rs879254498
NM_000527.4(LDLR):c.378C>T (p.Phe126=) rs762139262
NM_000527.4(LDLR):c.378del (p.Phe126fs) rs1555803213
NM_000527.4(LDLR):c.380T>G (p.Val127Gly) rs879254503
NM_000527.4(LDLR):c.382T>C (p.Cys128Arg) rs879254505
NM_000527.4(LDLR):c.391G>C (p.Asp131His) rs879254511
NM_000527.4(LDLR):c.3G>A (p.Met1Ile) rs879254383
NM_000527.4(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.4(LDLR):c.400T>G (p.Cys134Gly) rs875989900
NM_000527.4(LDLR):c.402C>T (p.Cys134=) rs879254515
NM_000527.4(LDLR):c.408C>T (p.Asp136=) rs759738744
NM_000527.4(LDLR):c.409G>A (p.Gly137Ser) rs730882082
NM_000527.4(LDLR):c.415G>A (p.Asp139Asn) rs879254517
NM_000527.4(LDLR):c.417C>T (p.Asp139=) rs537484504
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.418G>T (p.Glu140Ter) rs748944640
NM_000527.4(LDLR):c.419A>G (p.Glu140Gly) rs879254519
NM_000527.4(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.4(LDLR):c.426C>A (p.Ser142=) rs1555803245
NM_000527.4(LDLR):c.427T>G (p.Cys143Gly) rs875989901
NM_000527.4(LDLR):c.429C>A (p.Cys143Ter) rs199774121
NM_000527.4(LDLR):c.431C>T (p.Pro144Leu) rs912448894
NM_000527.4(LDLR):c.434T>C (p.Val145Ala) rs776872913
NM_000527.4(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.4(LDLR):c.445G>C (p.Gly149Arg) rs879254529
NM_000527.4(LDLR):c.450C>T (p.Pro150=) rs773365925
NM_000527.4(LDLR):c.451G>A (p.Ala151Thr) rs763233960
NM_000527.4(LDLR):c.451G>C (p.Ala151Pro) rs763233960
NM_000527.4(LDLR):c.458T>G (p.Phe153Cys) rs879254533
NM_000527.4(LDLR):c.463T>C (p.Cys155Arg) rs879254535
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.464G>T (p.Cys155Phe) rs879254536
NM_000527.4(LDLR):c.465C>A (p.Cys155Ter) rs766094434
NM_000527.4(LDLR):c.467delA (p.N156Tfs*49) rs1057516135
NM_000527.4(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.4(LDLR):c.482T>C (p.Ile161Thr) rs754933794
NM_000527.4(LDLR):c.495G>A (p.Trp165Ter) rs879254546
NM_000527.4(LDLR):c.498C>T (p.Ala166=) rs10417394
NM_000527.4(LDLR):c.499T>C (p.Cys167Arg) rs879254547
NM_000527.4(LDLR):c.4G>A (p.Gly2Arg) rs5931
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.501C>G (p.Cys167Trp) rs752596535
NM_000527.4(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.4(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.508G>A (p.Asp170Asn) rs139089530
NM_000527.4(LDLR):c.513del (p.Asp172fs) rs879254552
NM_000527.4(LDLR):c.514G>A (p.Asp172Asn) rs879254554
NM_000527.4(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.4(LDLR):c.518G>A (p.Cys173Tyr) rs879254560
NM_000527.4(LDLR):c.518del (p.Cys173fs) rs879254559
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.531G>A (p.Ser177=) rs555158224
NM_000527.4(LDLR):c.532del (p.Asp178fs) rs1555803327
NM_000527.4(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.4(LDLR):c.535_536insGCTCGGAG (p.Glu179fs) rs1555803337
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.542C>T (p.Pro181Leu) rs557344672
NM_000527.4(LDLR):c.543G>T (p.Pro181=) rs766577671
NM_000527.4(LDLR):c.548G>A (p.Arg183His) rs767273754
NM_000527.4(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.557dup (p.Leu187fs) rs879254573
NM_000527.4(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.4(LDLR):c.565del (p.Val189fs) rs1555803354
NM_000527.4(LDLR):c.567G>C (p.Val189=) rs753329861
NM_000527.4(LDLR):c.586C>A (p.Pro196Thr) rs1013147010
NM_000527.4(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.4(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.4(LDLR):c.611G>C (p.Cys204Ser) rs879254592
NM_000527.4(LDLR):c.612C>A (p.Cys204Ter) rs1555803383
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.4(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.4(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.4(LDLR):c.628A>C (p.Ile210Leu) rs1555803391
NM_000527.4(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.643C>T (p.Arg215Cys) rs764042910
NM_000527.4(LDLR):c.644G>A (p.Arg215His) rs753319170
NM_000527.4(LDLR):c.645_646del (p.Arg215_Cys216insTer) rs879254608
NM_000527.4(LDLR):c.646_647TG[1] (p.Cys216_Asp217delinsTer) rs879254612
NM_000527.4(LDLR):c.651_653TGG[1] (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.658_663del (p.Pro220_Asp221del) rs1555803409
NM_000527.4(LDLR):c.660C>T (p.Pro220=) rs143002616
NM_000527.4(LDLR):c.660del (p.Asp221fs) rs875989905
NM_000527.4(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.662_681dup (p.Glu228fs) rs1555803432
NM_000527.4(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.4(LDLR):c.666C>A (p.Cys222Ter) rs756613387
NM_000527.4(LDLR):c.666C>T (p.Cys222=) rs756613387
NM_000527.4(LDLR):c.669_676del (p.Lys223fs) rs1555803449
NM_000527.4(LDLR):c.67+2015G>T rs6511720
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.671A>T (p.Asp224Val) rs879254630
NM_000527.4(LDLR):c.68-5_68-2del rs879254395
NM_000527.4(LDLR):c.68-79G>T rs141878815
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.680_692delACGAGGAAAACTGins24 (p.?)
NM_000527.4(LDLR):c.681C>A (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.681C>T (p.Asp227=) rs121908028
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>C (p.Glu228Gln) rs121908029
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.682_683insGACAAATCTGAG (p.Glu228delinsGlyGlnIleTer) rs879254641
NM_000527.4(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.4(LDLR):c.68_190del123 (p.Gly24_Leu64del) rs1555802242
NM_000527.4(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.4(LDLR):c.692G>A (p.Cys231Tyr) rs879254644
NM_000527.4(LDLR):c.702del (p.Thr235fs) rs1555803641
NM_000527.4(LDLR):c.706T>C (p.Cys236Arg) rs879254655
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.722T>C (p.Phe241Ser) rs748131256
NM_000527.4(LDLR):c.722T>G (p.Phe241Cys) rs748131256
NM_000527.4(LDLR):c.731C>G (p.Ser244Cys) rs1208667598
NM_000527.4(LDLR):c.737G>T (p.Gly246Val) rs879254661
NM_000527.4(LDLR):c.738A>G (p.Gly246=) rs1555803658
NM_000527.4(LDLR):c.742T>G (p.Cys248Gly) rs879254662
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.4(LDLR):c.762G>T (p.Gln254His) rs764526789
NM_000527.4(LDLR):c.763T>A (p.Cys255Ser) rs879254668
NM_000527.4(LDLR):c.763T>C (p.Cys255Arg) rs879254668
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.76A>T (p.Arg26Ter) rs879254398
NM_000527.4(LDLR):c.770G>C (p.Arg257Pro) rs757808215
NM_000527.4(LDLR):c.774_775AT[1] (p.Glu258_Tyr259insTer) rs879254673
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.4(LDLR):c.796_800del (p.Asp266fs) rs1555803701
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.4(LDLR):c.79T>C (p.Cys27Arg) rs1555802245
NM_000527.4(LDLR):c.801A>T (p.Glu267Asp) rs879254681
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.808T>A (p.Cys270Ser) rs879254682
NM_000527.4(LDLR):c.808T>C (p.Cys270Arg) rs879254682
NM_000527.4(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
NM_000527.4(LDLR):c.810C>A (p.Cys270Ter) rs773328511
NM_000527.4(LDLR):c.814_818del (p.Asn272fs) rs1555803722
NM_000527.4(LDLR):c.817+1G>A rs879254685
NM_000527.4(LDLR):c.817+1G>T rs879254685
NM_000527.4(LDLR):c.818-3C>G rs886039831
NM_000527.4(LDLR):c.819G>A (p.Val273=) rs1555803817
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_000527.4(LDLR):c.820delA (p.T274Hfs*95) rs751122998
NM_000527.4(LDLR):c.826T>G (p.Cys276Gly) rs879254692
NM_000527.4(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.4(LDLR):c.828C>G (p.Cys276Trp) rs146651743
NM_000527.4(LDLR):c.828C>T (p.Cys276=) rs146651743
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.82G>A (p.Glu28Lys) rs551747280
NM_000527.4(LDLR):c.82G>T (p.Glu28Ter) rs551747280
NM_000527.4(LDLR):c.839_848dup (p.Cys284fs) rs1555803837
NM_000527.4(LDLR):c.840_841insT (p.Lys281Ter) rs1555803841
NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.4(LDLR):c.850T>G (p.Cys284Gly) rs879254693
NM_000527.4(LDLR):c.853C>T (p.His285Tyr) rs730882091
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.858C>T (p.Ser286=) rs140241383
NM_000527.4(LDLR):c.859G>A (p.Gly287Ser) rs375495026
NM_000527.4(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.874del (p.Leu292fs) rs879254700
NM_000527.4(LDLR):c.877del (p.Asp293fs) rs879254702
NM_000527.4(LDLR):c.880A>G (p.Lys294Glu) rs879254703
NM_000527.4(LDLR):c.886T>C (p.Cys296Arg) rs1555803879
NM_000527.4(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.4(LDLR):c.888C>A (p.Cys296Ter) rs879254708
NM_000527.4(LDLR):c.889A>C (p.Asn297His) rs879254709
NM_000527.4(LDLR):c.902A>G (p.Asp301Gly) rs879254714
NM_000527.4(LDLR):c.904T>C (p.Cys302Arg) rs1555803891
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.4(LDLR):c.90_91insTGTGTTT (p.Glu31delinsCysValTer) rs1555802258
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.4(LDLR):c.911A>T (p.Asp304Val) rs1555803898
NM_000527.4(LDLR):c.915G>C (p.Trp305Cys) rs757252110
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.919G>C (p.Asp307His) rs879254719
NM_000527.4(LDLR):c.91G>A (p.Glu31Lys) rs776421777
NM_000527.4(LDLR):c.91G>T (p.Glu31Ter) rs776421777
NM_000527.4(LDLR):c.922G>A (p.Glu308Lys) rs879254721
NM_000527.4(LDLR):c.925_931delCCCATCA (p.Pro309Lysfs) rs387906304
NM_000527.4(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.4(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.4(LDLR):c.938G>A (p.Cys313Tyr) rs875989911
NM_000527.4(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.4(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.4(LDLR):c.940+1G>T rs879254729
NM_000527.4(LDLR):c.940+2T>G rs875989912
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-2A>G rs112366278
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.948del (p.Asn316fs) rs1555804443
NM_000527.4(LDLR):c.949G>A (p.Glu317Lys) rs746834464
NM_000527.4(LDLR):c.95T>G (p.Phe32Cys) rs879254403
NM_000527.4(LDLR):c.962del (p.Asn321fs) rs1555804455
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.4(LDLR):c.97C>T (p.Gln33Ter) rs121908024
NM_000527.4(LDLR):c.985T>C (p.Cys329Arg) rs879254749
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_000527.4(LDLR):c.9del (p.Trp4fs) rs879254384

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