ClinVar Miner

List of variants in gene LDLR reported as likely pathogenic for hyperlipoproteinemia

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1244
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
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.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 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.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NC_000019.10:g.11089263C>G rs989307060 0.00003
NM_000527.5(LDLR):c.-121T>C rs777716188 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.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.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.1097A>G (p.Gln366Arg) rs746982741 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) rs749780672 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) rs875989924 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) rs763147599 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NC_000019.10:g.11089429C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp) rs869320650 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.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.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.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.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.1592T>A (p.Met531Lys) rs779913921 0.00001
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser) rs879255034 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.1886T>G (p.Phe629Cys) rs879255069 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) rs764550980 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr) rs1182317785 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn) rs879255142 0.00001
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 0.00001
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.314-2A>C rs879254470 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) rs755799528 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) rs777321035 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys) rs879254657 0.00001
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr) rs879254665 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly) rs141681167 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.811G>A (p.Val271Ile) rs749220643 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.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr) rs761765254 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser) rs730882094 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
FH Cape Town 2
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(chr19:11110650-11110651)x3
GRCh38/hg38 19p13.2(chr19:11116092-11116093)x3
NC_000019.10:g.(?_11110652)_(11110771_?)dup
NC_000019.10:g.(?_11111514)_(11111639_?)del
NC_000019.10:g.(?_11128008)_(11128085_?)del
NC_000019.10:g.11089364_11089366del rs879254363
NC_000019.10:g.11089393C>T rs879254364
NC_000019.10:g.11089394_11089395delinsTTCTGCAAACTCCT rs879254365
NC_000019.10:g.11089397C>T
NC_000019.10:g.11089400C>A rs879254368
NC_000019.10:g.11089409C>G rs875989887
NC_000019.10:g.11089409C>T rs875989887
NC_000019.10:g.11089411T>C rs879254372
NC_000019.10:g.11089411del rs387906307
NC_000019.10:g.11089413C>G rs879254374
NC_000019.10:g.11089413C>T rs879254374
NC_000019.10:g.11089414C>G
NC_000019.10:g.11089448T>C rs747068848
NC_000019.10:g.11089452G>A rs944580031
NC_000019.9:g.(11212181_11213340)_(11218190_11219759)del
NC_000019.9:g.(11216759_11217241)_(11217363_11217715)del
NC_000019.9:g.(11236353_11238684)_(11240346_11241151)del
NC_000019.9:g.(?_11210879)_(11227694_?)dup
NC_000019.9:g.(?_11213330)_(11227689_?)dup
NC_000019.9:g.(?_11215876)_(11222335_?)dup
NC_000019.9:g.(?_11215876)_(11224458_?)dup
NC_000019.9:g.(?_11223934)_(11231218_?)dup
NC_000019.9:g.(?_11230768)_(11240346_?)dup
NC_000019.9:g.(?_11234271)_(11242805_?)dup
NC_000019.9:g.(?_11238664)_(11242870_?)dup
NC_000019.9:g.(?_11238684)_(11248011_?)dup
NC_000019.9:g.11224039_11224040ins(96)
NG_009060.1(LDLR):g.15965TG[3]
NM_000527.4(LDLR):c.-124dup rs1057519649
NM_000527.4(LDLR):c.-139_-130delCTCCCCCTGC rs2077055015
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.-155_-150delACCCCA rs1057519648
NM_000527.4(LDLR):c.-168A>G rs1057519647
NM_000527.4(LDLR):c.-99A>G rs1057519650
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.4(LDLR):c.680_681ins(21)
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4:c.(313+1_314-1)_(1186+1_1187-1)del
NM_000527.4:c.[1979A>C;2359G>A]
NM_000527.5(LDLR):c.-188C>T rs878854023
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.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>C (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.1016T>C (p.Leu339Pro)
NM_000527.5(LDLR):c.1018T>G (p.Cys340Gly)
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.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1027G>T (p.Gly343Cys) rs730882096
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.5(LDLR):c.1028G>T (p.Gly343Val) rs879254760
NM_000527.5(LDLR):c.102C>G (p.Cys34Trp) rs879254407
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.5(LDLR):c.1048C>G (p.Arg350Gly)
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
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.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.1057G>A (p.Glu353Lys)
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+1G>T rs879254771
NM_000527.5(LDLR):c.1060G>A (p.Asp354Asn)
NM_000527.5(LDLR):c.1061-1G>A rs879254774
NM_000527.5(LDLR):c.1061-2A>G rs879254773
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.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.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1069_1086dup (p.Glu357_Asp362dup) rs879254780
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly) rs753248521
NM_000527.5(LDLR):c.1072T>C (p.Cys358Arg) rs879254783
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
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.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.1097A>C (p.Gln366Pro) rs746982741
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.1109A>C (p.Asn370Thr) rs879254792
NM_000527.5(LDLR):c.1109A>T (p.Asn370Ile)
NM_000527.5(LDLR):c.1110C>G (p.Asn370Lys) rs879254793
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.1123T>G (p.Tyr375Asp)
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.1129dup (p.Cys377fs) rs2077377269
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.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1135T>G (p.Cys379Gly) rs879254803
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.5(LDLR):c.1151_1159del (p.Gln384_Asp386del) rs879254806
NM_000527.5(LDLR):c.1154T>G (p.Leu385Arg) rs879254809
NM_000527.5(LDLR):c.1165A>G (p.Thr389Ala)
NM_000527.5(LDLR):c.1166C>A (p.Thr389Lys)
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg) rs879254814
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1177A>C (p.Lys393Gln) rs1060499921
NM_000527.5(LDLR):c.1177A>G (p.Lys393Glu)
NM_000527.5(LDLR):c.1179G>C (p.Lys393Asn) rs879254816
NM_000527.5(LDLR):c.117C>A (p.Cys39Ter)
NM_000527.5(LDLR):c.1186+1G>A rs730880131
NM_000527.5(LDLR):c.1186+1G>T rs730880131
NM_000527.5(LDLR):c.1186+2T>G rs779921498
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1187-10_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.1195G>T (p.Ala399Ser) rs730882099
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.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.1205T>C (p.Phe402Ser) rs1057519668
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.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>G (p.Asn405Ser)
NM_000527.5(LDLR):c.1214_1217dup (p.His407fs) rs2077407494
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.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.1228A>G (p.Arg410Gly) rs2077408020
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.1235T>C (p.Met412Thr) rs879254842
NM_000527.5(LDLR):c.1238C>G (p.Thr413Arg)
NM_000527.5(LDLR):c.1241T>A (p.Leu414Gln)
NM_000527.5(LDLR):c.1243G>C (p.Asp415His) rs879254844
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.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.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.1274A>T (p.Asn425Ile) rs879254850
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.1284C>A (p.Asn428Lys)
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1284del (p.Asn428fs) rs2077409930
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1288G>C (p.Val430Leu) rs879254853
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.5(LDLR):c.1292C>G (p.Ala431Gly)
NM_000527.5(LDLR):c.1294C>A (p.Leu432Met)
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.1298A>C (p.Asp433Ala)
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.1307T>A (p.Val436Glu) rs779732323
NM_000527.5(LDLR):c.1307T>G (p.Val436Gly)
NM_000527.5(LDLR):c.1315A>T (p.Asn439Tyr) rs1057519670
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly) rs879254861
NM_000527.5(LDLR):c.1319G>T (p.Arg440Ile)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1322T>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.1327T>C (p.Trp443Arg) rs773566855
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro) rs875989919
NM_000527.5(LDLR):c.1331C>T (p.Ser444Phe) rs2147247764
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.1351A>T (p.Ile451Phe) rs879254873
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1358+1G>T rs775924858
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1358+2T>C rs193922567
NM_000527.5(LDLR):c.1358+3_1358+8del rs879254875
NM_000527.5(LDLR):c.1361C>A (p.Thr454Asn) rs879254879
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.136T>G (p.Cys46Gly) rs879254415
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.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly) rs1057516128
NM_000527.5(LDLR):c.1408A>T (p.Ser470Cys) rs1057516128
NM_000527.5(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
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.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1426C>T (p.Pro476Ser) rs879254898
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1433G>A (p.Gly478Glu) rs1555805380
NM_000527.5(LDLR):c.1433G>T (p.Gly478Val)
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.1438G>T (p.Ala480Ser)
NM_000527.5(LDLR):c.1439del (p.Ala480fs)
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.1454A>G (p.His485Arg) rs879254906
NM_000527.5(LDLR):c.1455C>G (p.His485Gln) rs879254908
NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser) rs879254912
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>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.1470G>T (p.Trp490Cys)
NM_000527.5(LDLR):c.1472C>A (p.Thr491Asn) rs879254917
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1474G>T (p.Asp492Tyr)
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.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.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1496_1497del (p.Ser499fs) rs879254922
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.1514G>A (p.Gly505Asp) rs879254926
NM_000527.5(LDLR):c.1520A>C (p.Lys507Thr) rs879254929
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu) rs879254931
NM_000527.5(LDLR):c.1532T>C (p.Leu511Ser) rs879254932
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu) rs879254937
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>T (p.Ala521Ser)
NM_000527.5(LDLR):c.1562C>T (p.Ala521Val) rs770696696
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.1570G>A (p.Val524Met)
NM_000527.5(LDLR):c.1571T>G (p.Val524Gly)
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.5(LDLR):c.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.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1586+1G>T rs755389753
NM_000527.5(LDLR):c.1586+2T>A rs879254945
NM_000527.5(LDLR):c.1586+2T>C rs879254945
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.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.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.1597T>C (p.Trp533Arg) rs879254951
NM_000527.5(LDLR):c.1599G>T (p.Trp533Cys)
NM_000527.5(LDLR):c.1600_1608del (p.Thr534_Trp536del) rs879254953
NM_000527.5(LDLR):c.1601C>A (p.Thr534Asn) rs879254954
NM_000527.5(LDLR):c.1603G>T (p.Asp535Tyr) rs879254955
NM_000527.5(LDLR):c.1606T>G (p.Trp536Gly) rs879254956
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
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.1633G>A (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1633G>C (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1633G>T (p.Gly545Trp) rs879254965
NM_000527.5(LDLR):c.1636G>C (p.Gly546Arg) rs879254966
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1637G>T (p.Gly546Val) rs28942081
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.5(LDLR):c.1643A>G (p.Asn548Ser)
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.1645G>C (p.Gly549Arg)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala) rs28941776
NM_000527.5(LDLR):c.1646G>T (p.Gly549Val) rs28941776
NM_000527.5(LDLR):c.1664T>C (p.Leu555Pro) rs879254978
NM_000527.5(LDLR):c.1664T>G (p.Leu555Arg)
NM_000527.5(LDLR):c.166T>C (p.Ser56Pro) rs878854026
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe) rs1131692213
NM_000527.5(LDLR):c.167C>T (p.Ser56Phe)
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup) rs879254983
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.1687C>T (p.Pro563Ser) rs879254986
NM_000527.5(LDLR):c.1688C>A (p.Pro563His) rs879254987
NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del) rs879254421
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1692T>G (p.Asn564Lys)
NM_000527.5(LDLR):c.1693G>A (p.Gly565Ser)
NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg)
NM_000527.5(LDLR):c.1693G>T (p.Gly565Cys)
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) rs879254989
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.1703T>C (p.Leu568Pro) rs879254991
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+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.1706-1G>A rs879254996
NM_000527.5(LDLR):c.1706-1G>T rs879254996
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.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.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.1730_1738del (p.Trp577_Asp579del) rs879255001
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.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.5(LDLR):c.1736A>C (p.Asp579Ala) rs879255003
NM_000527.5(LDLR):c.1736A>G (p.Asp579Gly) rs879255003
NM_000527.5(LDLR):c.1737C>G (p.Asp579Glu) rs879255004
NM_000527.5(LDLR):c.1738T>A (p.Ser580Thr)
NM_000527.5(LDLR):c.1738T>C (p.Ser580Pro) rs1057519675
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.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
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.1750T>C (p.Ser584Pro) rs879255010
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.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784G>T (p.Arg595Leu) rs201102492
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.1800G>C (p.Glu600Asp)
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>T (p.Asp601Val) rs879255027
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.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1820A>G (p.His607Arg) rs879255033
NM_000527.5(LDLR):c.1822C>A (p.Pro608Thr) rs879255034
NM_000527.5(LDLR):c.1823C>A (p.Pro608His)
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.1828T>C (p.Ser610Pro) rs2077475503
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.1833G>C (p.Leu611Phe) rs879255041
NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe) rs879255041
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1840T>A (p.Phe614Ile) rs879255043
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+1G>A rs879255049
NM_000527.5(LDLR):c.1845+1G>T rs879255049
NM_000527.5(LDLR):c.1845+1del
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.1845+2del
NM_000527.5(LDLR):c.1845G>C (p.Glu615Asp)
NM_000527.5(LDLR):c.1846-11T>A rs2147264751
NM_000527.5(LDLR):c.1846-1G>C rs879255051
NM_000527.5(LDLR):c.1846-1_1847dup rs2147264768
NM_000527.5(LDLR):c.1846-2A>C rs879255050
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.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.185C>G (p.Thr62Arg) rs376207800
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.1862C>G (p.Thr621Arg) rs879255058
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) rs879255059
NM_000527.5(LDLR):c.1864G>C (p.Asp622His)
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.1867dup (p.Ile623fs) rs1555807206
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
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.1883T>C (p.Ile628Thr) rs879255067
NM_000527.5(LDLR):c.1885T>G (p.Phe629Val) rs765736500
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.5(LDLR):c.1891_2311+1062del
NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp) rs879255070
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu) rs754536745
NM_000527.5(LDLR):c.18G>A (p.Trp6Ter)
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.1907G>A (p.Gly636Asp) rs879255072
NM_000527.5(LDLR):c.1907G>T (p.Gly636Val) rs879255072
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.191-2delinsCT rs879254432
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.1925T>C (p.Leu642Ser) rs879255073
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.5(LDLR):c.1936C>A (p.Leu646Ile) rs779940524
NM_000527.5(LDLR):c.1942T>C (p.Ser648Pro) rs879255079
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser) rs879255080
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1951G>T (p.Asp651Tyr) rs730882110
NM_000527.5(LDLR):c.1952A>G (p.Asp651Gly)
NM_000527.5(LDLR):c.1952A>T (p.Asp651Val) rs563382937
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.1960C>T (p.Leu654Phe) rs879255087
NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro) rs2077526349
NM_000527.5(LDLR):c.1963T>C (p.Phe655Leu)
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.1968C>G (p.His656Gln) rs879255091
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.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.1981C>G (p.Pro661Ala) rs1182317785
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.5(LDLR):c.1984A>T (p.Arg662Ter)
NM_000527.5(LDLR):c.1987+2_1987+34del rs879255098
NM_000527.5(LDLR):c.1988-2A>T rs879255101
NM_000527.5(LDLR):c.1988G>A (p.Gly663Glu) rs879255102
NM_000527.5(LDLR):c.1988_2140+1064del
NM_000527.5(LDLR):c.1999T>A (p.Cys667Ser) rs150021927
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.1999T>G (p.Cys667Gly)
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.2001T>G (p.Cys667Trp) rs879255109
NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer) rs1600743301
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.2026G>C (p.Gly676Arg) rs745753810
NM_000527.5(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
NM_000527.5(LDLR):c.2030G>A (p.Cys677Tyr) rs875989938
NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe) rs875989938
NM_000527.5(LDLR):c.2033_2044del (p.Gln678_Cys681del) rs879255115
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.5(LDLR):c.2042G>C (p.Cys681Ser) rs201637900
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2043C>G (p.Cys681Trp) rs121908031
NM_000527.5(LDLR):c.2045T>C (p.Leu682Pro) rs879255119
NM_000527.5(LDLR):c.2045T>G (p.Leu682Arg) rs879255119
NM_000527.5(LDLR):c.204C>A (p.Cys68Ter) rs879254437
NM_000527.5(LDLR):c.2053C>A (p.Pro685Thr) rs2569548
NM_000527.5(LDLR):c.2053C>G (p.Pro685Ala)
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>G (p.Pro685Arg)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2056C>G (p.Gln686Glu) rs879255126
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.2087G>A (p.Cys696Tyr) rs879255134
NM_000527.5(LDLR):c.2087G>T (p.Cys696Phe) rs879255134
NM_000527.5(LDLR):c.2088C>G (p.Cys696Trp)
NM_000527.5(LDLR):c.2089G>C (p.Ala697Pro) rs776217028
NM_000527.5(LDLR):c.2092T>C (p.Cys698Arg)
NM_000527.5(LDLR):c.2092del (p.Cys698fs) rs879255135
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
NM_000527.5(LDLR):c.2095C>T (p.Pro699Ser)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
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.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2114C>T (p.Ala705Val)
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.2125A>G (p.Arg709Gly) rs1057519684
NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser) rs879255144
NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr) rs879255145
NM_000527.5(LDLR):c.2132G>C (p.Cys711Ser) rs879255145
NM_000527.5(LDLR):c.2132G>T (p.Cys711Phe) rs879255145
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+1G>C rs145787161
NM_000527.5(LDLR):c.2140+1G>T rs145787161
NM_000527.5(LDLR):c.2140+2T>A rs879255147
NM_000527.5(LDLR):c.2140+2T>C rs879255147
NM_000527.5(LDLR):c.2140+86C>G rs587776886
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.2141-1G>C
NM_000527.5(LDLR):c.2141-218G>A
NM_000527.5(LDLR):c.2141-2A>G
NM_000527.5(LDLR):c.2146G>T (p.Glu716Ter) rs879255149
NM_000527.5(LDLR):c.2207dup (p.Arg737fs) rs879255164
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2229_2234dup (p.Arg744_Pro745dup) rs1131692222
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.5(LDLR):c.2259_2277del (p.Gly754fs)
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.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.227_233del (p.Gly76fs) rs2147216927
NM_000527.5(LDLR):c.2287del (p.Glu763fs) rs1057519686
NM_000527.5(LDLR):c.230del (p.Gly77fs) rs879254440
NM_000527.5(LDLR):c.2311+1G>C rs879255175
NM_000527.5(LDLR):c.2311+1G>T
NM_000527.5(LDLR):c.2311+2T>G rs879255176
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2312-1G>A rs753047625
NM_000527.5(LDLR):c.2312-1G>T
NM_000527.5(LDLR):c.2312-2A>G rs2077660035
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2322del (p.Asp774fs)
NM_000527.5(LDLR):c.233del (p.Arg78fs) rs1057516129
NM_000527.5(LDLR):c.2370_2389+20del rs1600762098
NM_000527.5(LDLR):c.2384_2389+2del
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+4A>G rs758493597
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>C rs879255193
NM_000527.5(LDLR):c.2392CTC[1] (p.Leu799del) rs879255195
NM_000527.5(LDLR):c.2392_2400del (p.Leu798_Val800del) rs879255194
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg) rs879255196
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.5(LDLR):c.2407T>C (p.Cys803Arg) rs1060499930
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
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.2414G>A (p.Gly805Glu) rs2147286859
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>A (p.Arg81Ser) rs730882078
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.242G>T (p.Arg81Leu)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
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.245G>A (p.Cys82Tyr) rs879254448
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe) rs879254448
NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp) rs879255215
NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.5(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.2482T>C (p.Tyr828His) rs879255218
NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser) rs28942085
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.251C>G (p.Pro84Arg) rs875989892
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp) rs121908037
NM_000527.5(LDLR):c.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+5G>C rs879255226
NM_000527.5(LDLR):c.2548-2A>G rs879255227
NM_000527.5(LDLR):c.2557del (p.Val853fs)
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
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.274del (p.Gln92fs) rs2077232183
NM_000527.5(LDLR):c.280G>C (p.Asp94His)
NM_000527.5(LDLR):c.280G>T (p.Asp94Tyr) rs745776977
NM_000527.5(LDLR):c.281A>T (p.Asp94Val)
NM_000527.5(LDLR):c.283T>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>C (p.Cys95Ser)
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.5(LDLR):c.28T>A (p.Trp10Arg) rs879254386
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
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.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.299A>G (p.Asp100Gly) rs879254460
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.310T>C (p.Cys104Arg) rs879254464
NM_000527.5(LDLR):c.310T>G (p.Cys104Gly) rs879254464
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe) rs875989895
NM_000527.5(LDLR):c.311_313+18del rs2147217467
NM_000527.5(LDLR):c.312T>G (p.Cys104Trp) rs879254465
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+1G>T rs112029328
NM_000527.5(LDLR):c.313+1dup rs879254466
NM_000527.5(LDLR):c.313+2T>A rs793888517
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.313+5G>T rs879254467
NM_000527.5(LDLR):c.313+6T>C rs879254468
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.313_313+1delinsTC
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.314-446_1187-386dup
NM_000527.5(LDLR):c.314-62_1186+60dup
NM_000527.5(LDLR):c.316_336del (p.Pro106_Asp112del) rs879254472
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.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.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.340_344del (p.Phe114fs) rs1057516132
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg) rs879254482
NM_000527.5(LDLR):c.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.354_356del (p.Asp118_Gly119delinsGlu) rs879254489
NM_000527.5(LDLR):c.355G>A (p.Gly119Arg) rs869320648
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.364A>T (p.Ile122Phe) rs879254493
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp) rs879254498
NM_000527.5(LDLR):c.370dup (p.Arg124fs) rs1057516133
NM_000527.5(LDLR):c.373_379del (p.Gln125fs) rs2147223487
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.380T>A (p.Val127Asp) rs879254503
NM_000527.5(LDLR):c.382T>C (p.Cys128Arg) rs879254505
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.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.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.407A>T (p.Asp136Val) rs879254516
NM_000527.5(LDLR):c.409G>T (p.Gly137Cys) rs730882082
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)
NM_000527.5(LDLR):c.415G>C (p.Asp139His) rs879254517
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.5(LDLR):c.416A>T (p.Asp139Val) rs879254518
NM_000527.5(LDLR):c.417C>G (p.Asp139Glu) rs537484504
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.419A>G (p.Glu140Gly) rs879254519
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.420G>T (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.427T>A (p.Cys143Ser) rs875989901
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.427T>G (p.Cys143Gly) rs875989901
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.5(LDLR):c.428G>T (p.Cys143Phe) rs879254522
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.5(LDLR):c.442_504del (p.Cys148_Asp168del) rs1555803257
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.44T>A (p.Leu15His) rs879254390
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.44T>G (p.Leu15Arg) rs879254390
NM_000527.5(LDLR):c.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.467del (p.Asn156fs) rs1057516135
NM_000527.5(LDLR):c.470G>A (p.Ser157Asn) rs1555803280
NM_000527.5(LDLR):c.473C>G (p.Ser158Cys) rs763998635
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.485C>T (p.Pro162Leu) rs879254543
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro) rs879254544
NM_000527.5(LDLR):c.493T>G (p.Trp165Gly) rs879254545
NM_000527.5(LDLR):c.494G>A (p.Trp165Ter)
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg) rs879254547
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr) rs879254548
NM_000527.5(LDLR):c.500G>C (p.Cys167Ser) rs879254548
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.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.510C>A (p.Asp170Glu) rs1060499931
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.515_516delinsTT (p.Asp172Val)
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.519C>A (p.Cys173Ter) rs769318035
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.520G>T (p.Glu174Ter) rs777326720
NM_000527.5(LDLR):c.523G>T (p.Asp175Tyr) rs121908033
NM_000527.5(LDLR):c.525_536del (p.Asp175_Asp178del) rs879254561
NM_000527.5(LDLR):c.527G>T (p.Gly176Val) rs879254563
NM_000527.5(LDLR):c.528C>T (p.Gly176=) rs1131692194
NM_000527.5(LDLR):c.529T>C (p.Ser177Pro) rs1060499919
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.532G>A (p.Asp178Asn) rs879254565
NM_000527.5(LDLR):c.532G>C (p.Asp178His) rs879254565
NM_000527.5(LDLR):c.532G>T (p.Asp178Tyr) rs879254565
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.5(LDLR):c.533A>T (p.Asp178Val) rs875989902
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.535G>A (p.Glu179Lys) rs879254567
NM_000527.5(LDLR):c.535_536delinsAT (p.Glu179Met)
NM_000527.5(LDLR):c.536A>G (p.Glu179Gly) rs879254568
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter) rs879254569
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)
NM_000527.5(LDLR):c.543G>T (p.Pro181=) rs766577671
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.551G>C (p.Cys184Ser) rs121908039
NM_000527.5(LDLR):c.551G>T (p.Cys184Phe)
NM_000527.5(LDLR):c.552T>G (p.Cys184Trp) rs879254571
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.5(LDLR):c.598T>A (p.Phe200Ile) rs879254585
NM_000527.5(LDLR):c.601G>A (p.Glu201Lys) rs879254589
NM_000527.5(LDLR):c.601G>C (p.Glu201Gln)
NM_000527.5(LDLR):c.602A>C (p.Glu201Ala)
NM_000527.5(LDLR):c.605T>C (p.Phe202Ser) rs879254590
NM_000527.5(LDLR):c.610T>C (p.Cys204Arg) rs1057519655
NM_000527.5(LDLR):c.610T>G (p.Cys204Gly) rs1057519655
NM_000527.5(LDLR):c.611G>A (p.Cys204Tyr) rs879254592
NM_000527.5(LDLR):c.611G>C (p.Cys204Ser) rs879254592
NM_000527.5(LDLR):c.611G>T (p.Cys204Phe) rs879254592
NM_000527.5(LDLR):c.613C>G (p.Leu205Val) rs1131692196
NM_000527.5(LDLR):c.618T>G (p.Ser206Arg) rs879254595
NM_000527.5(LDLR):c.619_639del (p.Gly207_Ser213del) rs879254596
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.5(LDLR):c.626G>T (p.Cys209Phe)
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn) rs879254601
NM_000527.5(LDLR):c.629T>C (p.Ile210Thr) rs879254601
NM_000527.5(LDLR):c.631C>G (p.His211Asp) rs771917370
NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro) rs879254602
NM_000527.5(LDLR):c.641G>C (p.Trp214Ser) rs879254605
NM_000527.5(LDLR):c.643C>A (p.Arg215Ser) rs764042910
NM_000527.5(LDLR):c.643_644insATCCACTCAGCTGGC (p.Trp214_Arg215insHisProLeuSerTrp) rs879254607
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.647G>T (p.Cys216Phe) rs879254611
NM_000527.5(LDLR):c.648_656del (p.Asp217_Gly219del) rs879254613
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.655_657del (p.Gly219del) rs879254616
NM_000527.5(LDLR):c.656_661del (p.Gly219_Pro220del) rs879254617
NM_000527.5(LDLR):c.660_661insTG (p.Asp221fs) rs869320649
NM_000527.5(LDLR):c.660_666dup (p.Lys223fs) rs1057519657
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.661G>C (p.Asp221His)
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.662A>T (p.Asp221Val) rs373822756
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.5(LDLR):c.664T>G (p.Cys222Gly) rs577934998
NM_000527.5(LDLR):c.664_681del (p.Cys222_Asp227del) rs387906306
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.5(LDLR):c.666C>G (p.Cys222Trp) rs756613387
NM_000527.5(LDLR):c.667_693del (p.Lys223_Cys231del) rs879254624
NM_000527.5(LDLR):c.669G>C (p.Lys223Asn) rs879254627
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer) rs879254626
NM_000527.5(LDLR):c.67+1G>A
NM_000527.5(LDLR):c.67+1G>T rs762417023
NM_000527.5(LDLR):c.67+1dup rs2147186763
NM_000527.5(LDLR):c.67+2T>A rs879254394
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.670_675delinsTTT (p.Asp224_Lys225delinsPhe) rs879254628
NM_000527.5(LDLR):c.670_675dup (p.Asp224_Lys225dup) rs879254628
NM_000527.5(LDLR):c.671A>C (p.Asp224Ala) rs879254630
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) rs879254630
NM_000527.5(LDLR):c.671A>T (p.Asp224Val) rs879254630
NM_000527.5(LDLR):c.672C>A (p.Asp224Glu) rs1057519658
NM_000527.5(LDLR):c.672C>G (p.Asp224Glu) rs1057519658
NM_000527.5(LDLR):c.672_683dup (p.Asp224_Asp227dup) rs1555803414
NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del) rs1555803439
NM_000527.5(LDLR):c.673_674insTGCAA (p.Lys225fs) rs879254618
NM_000527.5(LDLR):c.673_681dup (p.Lys225_Asp227dup)
NM_000527.5(LDLR):c.674_683del (p.Lys225fs) rs1057519659
NM_000527.5(LDLR):c.675_689del (p.Lys225_Glu229del) rs879254632
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.5(LDLR):c.676_684dup (p.Ser226_Glu228dup) rs879254634
NM_000527.5(LDLR):c.677C>G (p.Ser226Cys) rs879254636
NM_000527.5(LDLR):c.679G>A (p.Asp227Asn) rs2077282480
NM_000527.5(LDLR):c.679G>C (p.Asp227His) rs2077282480
NM_000527.5(LDLR):c.68-1G>A rs879254397
NM_000527.5(LDLR):c.68-2A>G
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.68-5_68-2del rs879254395
NM_000527.5(LDLR):c.680A>T (p.Asp227Val) rs879254638
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.681_682insTCAGGGAAACCCGACTGC (p.Asp227_Glu228insSerGlyLysProAspCys) rs1555803471
NM_000527.5(LDLR):c.681_683del (p.Asp227del) rs879254639
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.682delinsTCAAGGAAACCCGACTGCA (p.Glu228delinsSerArgLysProAspCysLys) rs879254641
NM_000527.5(LDLR):c.682delinsTGCA (p.Glu228delinsCysLys) rs879254641
NM_000527.5(LDLR):c.683A>C (p.Glu228Ala) rs879254642
NM_000527.5(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.5(LDLR):c.684G>C (p.Glu228Asp) rs1208216597
NM_000527.5(LDLR):c.686A>T (p.Glu229Val)
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg) rs746091400
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.5(LDLR):c.692G>A (p.Cys231Tyr) rs879254644
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.693C>G (p.Cys231Trp) rs121908035
NM_000527.5(LDLR):c.694+1G>A rs879254646
NM_000527.5(LDLR):c.694+1G>T rs879254646
NM_000527.5(LDLR):c.694+4dup rs879254647
NM_000527.5(LDLR):c.695-1G>A rs879254652
NM_000527.5(LDLR):c.695-1G>T rs879254652
NM_000527.5(LDLR):c.705_791del (p.Cys236_Met264del) rs1555803644
NM_000527.5(LDLR):c.706T>C (p.Cys236Arg) rs879254655
NM_000527.5(LDLR):c.706T>G (p.Cys236Gly) rs879254655
NM_000527.5(LDLR):c.722T>C (p.Phe241Ser) rs748131256
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.737G>A (p.Gly246Glu) rs879254661
NM_000527.5(LDLR):c.742T>G (p.Cys248Gly) rs879254662
NM_000527.5(LDLR):c.743G>A (p.Cys248Tyr) rs879254663
NM_000527.5(LDLR):c.743G>C (p.Cys248Ser) rs879254663
NM_000527.5(LDLR):c.743G>T (p.Cys248Phe) rs879254663
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.758G>C (p.Arg253Pro) rs139507589
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.762G>T (p.Gln254His) rs764526789
NM_000527.5(LDLR):c.762_763inv (p.Cys255Arg)
NM_000527.5(LDLR):c.763T>A (p.Cys255Ser) rs879254668
NM_000527.5(LDLR):c.763T>C (p.Cys255Arg) rs879254668
NM_000527.5(LDLR):c.763T>G (p.Cys255Gly) rs879254668
NM_000527.5(LDLR):c.764G>A (p.Cys255Tyr) rs879254669
NM_000527.5(LDLR):c.767A>G (p.Asp256Gly) rs879254670
NM_000527.5(LDLR):c.768C>A (p.Asp256Glu) rs879254671
NM_000527.5(LDLR):c.768C>G (p.Asp256Glu) rs879254671
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter) rs2147228929
NM_000527.5(LDLR):c.781T>A (p.Cys261Ser) rs1372739823
NM_000527.5(LDLR):c.782G>A (p.Cys261Tyr) rs121908040
NM_000527.5(LDLR):c.787G>T (p.Asp263Tyr)
NM_000527.5(LDLR):c.793A>T (p.Ser265Cys) rs879254676
NM_000527.5(LDLR):c.796G>C (p.Asp266His)
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr) rs875989907
NM_000527.5(LDLR):c.797A>G (p.Asp266Gly) rs879254678
NM_000527.5(LDLR):c.797A>T (p.Asp266Val) rs879254678
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.5(LDLR):c.79T>C (p.Cys27Arg) rs1555802245
NM_000527.5(LDLR):c.79_81delinsCGT (p.Cys27Arg) rs2077192500
NM_000527.5(LDLR):c.800A>C (p.Glu267Ala) rs879254680
NM_000527.5(LDLR):c.801A>T (p.Glu267Asp) rs879254681
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.808T>A (p.Cys270Ser) rs879254682
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
NM_000527.5(LDLR):c.810C>G (p.Cys270Trp) rs773328511
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.817+1G>C
NM_000527.5(LDLR):c.817+2T>C rs879254686
NM_000527.5(LDLR):c.818-1G>A rs879254688
NM_000527.5(LDLR):c.818-3C>G rs886039831
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.5(LDLR):c.826T>G (p.Cys276Gly) rs879254692
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr) rs730882089
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) rs551747280
NM_000527.5(LDLR):c.847A>T (p.Lys283Ter) rs1600715089
NM_000527.5(LDLR):c.850T>C (p.Cys284Arg) rs879254693
NM_000527.5(LDLR):c.850T>G (p.Cys284Gly) rs879254693
NM_000527.5(LDLR):c.850_852del (p.Cys284del) rs2077312042
NM_000527.5(LDLR):c.851G>T (p.Cys284Phe) rs879254694
NM_000527.5(LDLR):c.856A>G (p.Ser286Gly)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.5(LDLR):c.865del (p.Cys289fs) rs879254696
NM_000527.5(LDLR):c.869T>G (p.Ile290Ser) rs879254699
NM_000527.5(LDLR):c.880A>G (p.Lys294Glu) rs879254703
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.887G>C (p.Cys296Ser) rs879254707
NM_000527.5(LDLR):c.887G>T (p.Cys296Phe) rs879254707
NM_000527.5(LDLR):c.888C>G (p.Cys296Trp)
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr) rs879254711
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr) rs879254713
NM_000527.5(LDLR):c.902A>C (p.Asp301Ala) rs879254714
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
NM_000527.5(LDLR):c.905del (p.Cys302fs) rs1057516130
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp) rs879254716
NM_000527.5(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr) rs121908030
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys) rs757252110
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.5(LDLR):c.919G>C (p.Asp307His) rs879254719
NM_000527.5(LDLR):c.920A>C (p.Asp307Ala)
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly) rs1555803908
NM_000527.5(LDLR):c.921T>G (p.Asp307Glu) rs879254720
NM_000527.5(LDLR):c.922G>A (p.Glu308Lys) rs879254721
NM_000527.5(LDLR):c.924A>T (p.Glu308Asp) rs1057519664
NM_000527.5(LDLR):c.926C>A (p.Pro309His) rs1600715567
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.5(LDLR):c.937T>G (p.Cys313Gly) rs879254728
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.940+1G>A rs879254729
NM_000527.5(LDLR):c.940+1G>C rs879254729
NM_000527.5(LDLR):c.940+2T>A rs875989912
NM_000527.5(LDLR):c.940+2T>C rs875989912
NM_000527.5(LDLR):c.940+3_940+6del rs2077315885
NM_000527.5(LDLR):c.940+845_1186+531del
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-1G>A rs879254735
NM_000527.5(LDLR):c.941-2A>C rs112366278
NM_000527.5(LDLR):c.941-2A>G rs112366278
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.947A>C (p.Asn316Thr) rs730882094
NM_000527.5(LDLR):c.948C>G (p.Asn316Lys) rs780673258
NM_000527.5(LDLR):c.952T>C (p.Cys318Arg) rs879254738
NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr) rs879254739
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.95T>G (p.Phe32Cys) rs879254403
NM_000527.5(LDLR):c.961AAC[1] (p.Asn322del)
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.5(LDLR):c.967G>T (p.Gly323Cys) rs373869746
NM_000527.5(LDLR):c.968G>A (p.Gly323Asp)
NM_000527.5(LDLR):c.973T>C (p.Cys325Arg) rs1568600328
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000527.5(LDLR):c.974G>T (p.Cys325Phe) rs879254746
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_000527.5(LDLR):c.977C>T (p.Ser326Phe) rs879254747
NM_000527.5(LDLR):c.980A>C (p.His327Pro) rs2077361686
NM_000527.5(LDLR):c.981C>A (p.His327Gln) rs1060499933
NM_000527.5(LDLR):c.985T>C (p.Cys329Arg) rs879254749
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly) rs879254749
NM_000527.5(LDLR):c.986G>T (p.Cys329Phe) rs761954844
NM_000527.5(LDLR):c.987C>G (p.Cys329Trp) rs1555804467
NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup
c.(1060+1_1061-1)_(1186+1_1187-1)del
c.(190+1_191-1)_(1186+1_1187-1)dup
c.(190+1_191-1)_(2140+1_2141-1)dup
c.(190+1_191-1)_(694+1_695-1)dup
c.(190+1_191-1)_(940+1_941-1)dup
c.(2311+1_2312-1)_(2389+1_2390-1)del
c.(313+1_314-1)_(1186+1_1187-1)dup
c.(313+1_314-1)_(817+1_818-1)dup
c.(313+1_314-1)_(940+1_941-1)dup
c.(67+1_68-1)_(2311+1_2312-1)dup
c.(67+1_68-1)_(817+1_818-1)dup
c.(940+1_941-1)_(1060+1_1061-1)del
c.(940+1_941-1)_(1186+1_1187-1)dup
c.(?_-187)_(67+1_68-1)dup

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