ClinVar Miner

List of variants reported as pathogenic for Familial hypercholesterolemia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 712
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 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.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 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_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00004
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.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
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.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_000527.5(LDLR):c.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.1133A>C (p.Gln378Pro) rs730882098 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.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1435C>G (p.Leu479Val) rs1254928151 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1773_1775del (p.Asn591_Gly592delinsLys) rs1221971156 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.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 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.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter) rs200793488 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 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.398A>C (p.Asp133Ala) rs1317204420 0.00001
NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) rs755799528 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.544C>T (p.Gln182Ter) rs879254570 0.00001
NM_000527.5(LDLR):c.581del (p.Ser194fs) rs2077276693 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.772G>T (p.Glu258Ter) rs879254672 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.820del (p.Thr274fs) rs751122998 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter) rs121908325 0.00001
FH Aarhus
NC_000019.10:g.(?_11089282)_(11100355_?)del
NC_000019.10:g.(?_11089282)_(11131359_?)del
NC_000019.10:g.(?_11100203)_(11102806_?)del
NC_000019.10:g.(?_11100203)_(11107534_?)del
NC_000019.10:g.(?_11100213)_(11102796_?)del
NC_000019.10:g.(?_11100213)_(11107528_?)del
NC_000019.10:g.(?_11100213)_(11117013_?)del
NC_000019.10:g.(?_11102644)_(11107534_?)del
NC_000019.10:g.(?_11102654)_(11106697_?)del
NC_000019.10:g.(?_11102654)_(11107528_?)del
NC_000019.10:g.(?_11105200)_(11107534_?)del
NC_000019.10:g.(?_11105210)_(11107528_?)del
NC_000019.10:g.(?_11110613)_(11111650_?)del
NC_000019.10:g.(?_11110613)_(11117013_?)del
NC_000019.10:g.(?_11110613)_(11117013_?)dup
NC_000019.10:g.(?_11111494)_(11113782_?)del
NC_000019.10:g.(?_11111504)_(11117013_?)del
NC_000019.10:g.(?_11113268)_(11117013_?)dup
NC_000019.10:g.(?_11113272)_(11120528_?)del
NC_000019.10:g.(?_11116074)_(11117018_?)del
NC_000019.10:g.(?_11116084)_(11116222_?)del
NC_000019.10:g.(?_11116084)_(11117013_?)del
NC_000019.10:g.(?_11116084)_(11120608_?)del
NC_000019.10:g.(?_11116849)_(11120608_?)del
NC_000019.10:g.(?_11120082)_(11120608_?)del
NC_000019.10:g.(?_11120086)_(11129676_?)dup
NC_000019.10:g.(?_11123154)_(11131359_?)del
NC_000019.10:g.(?_11127998)_(11128095_?)del
NC_000019.10:g.(?_11127998)_(11131359_?)del
NC_000019.10:g.(?_11129503)_(11131359_?)del
NC_000019.10:g.11089397C>T
NC_000019.10:g.11089413C>T rs879254374
NC_000019.10:g.11089414C>G
NC_000019.9:g.(11227675_11230767)_(11231199_11233849)del
NC_000019.9:g.(?_10244343)_(11231218_?)del
NC_000019.9:g.(?_10828919)_(11222335_?)del
NC_000019.9:g.(?_11199955)_(11200311_?)del
NC_000019.9:g.(?_11199955)_(11218210_?)dup
NC_000019.9:g.(?_11210879)_(11211041_?)del
NC_000019.9:g.(?_11210879)_(11216296_?)del
NC_000019.9:g.(?_11210879)_(11218210_?)dup
NC_000019.9:g.(?_11210879)_(11222335_?)dup
NC_000019.9:g.(?_11212605)_(11217283_?)del
NC_000019.9:g.(?_11213320)_(11213482_?)del
NC_000019.9:g.(?_11213320)_(11216296_?)del
NC_000019.9:g.(?_11213320)_(11217383_?)del
NC_000019.9:g.(?_11213320)_(11218210_?)dup
NC_000019.9:g.(?_11213320)_(11224458_?)del
NC_000019.9:g.(?_11213330)_(11222326_?)del
NC_000019.9:g.(?_11215876)_(11216296_?)del
NC_000019.9:g.(?_11215876)_(11217383_?)del
NC_000019.9:g.(?_11215876)_(11222335_?)dup
NC_000019.9:g.(?_11215876)_(11241992_?)del
NC_000019.9:g.(?_11215886)_(11221471_?)del
NC_000019.9:g.(?_11217221)_(11217383_?)del
NC_000019.9:g.(?_11217231)_(11218204_?)del
NC_000019.9:g.(?_11217231)_(11224448_?)del
NC_000019.9:g.(?_11218048)_(11218210_?)del
NC_000019.9:g.(?_11221289)_(11221471_?)del
NC_000019.9:g.(?_11221308)_(11224458_?)del
NC_000019.9:g.(?_11221308)_(11234040_?)del
NC_000019.9:g.(?_11223934)_(11224458_?)del
NC_000019.9:g.(?_11223934)_(11224458_?)dup
NC_000019.9:g.(?_11223934)_(11231218_?)del
NC_000019.9:g.(?_11223934)_(11234040_?)del
NC_000019.9:g.(?_11223934)_(11241992_?)del
NC_000019.9:g.(?_11223944)_(11227689_?)del
NC_000019.9:g.(?_11223948)_(11241997_?)del
NC_000019.9:g.(?_11226750)_(11227694_?)dup
NC_000019.9:g.(?_11226750)_(11231218_?)del
NC_000019.9:g.(?_11226750)_(11241992_?)del
NC_000019.9:g.(?_11227515)_(11227694_?)del
NC_000019.9:g.(?_11227515)_(11241992_?)del
NC_000019.9:g.(?_11230748)_(11231218_?)del
NC_000019.9:g.(?_11230748)_(11231218_?)dup
NC_000019.9:g.(?_11230748)_(11234040_?)del
NC_000019.9:g.(?_11230748)_(11234040_?)dup
NC_000019.9:g.(?_11230748)_(11240366_?)dup
NC_000019.9:g.(?_11230748)_(11241992_?)del
NC_000019.9:g.(?_11230758)_(11240356_?)dup
NC_000019.9:g.(?_11230813)_(11235085_?)del
NC_000019.9:g.(?_11233830)_(11234040_?)del
NC_000019.9:g.(?_11233830)_(11238781_?)del
NC_000019.9:g.(?_11233830)_(11241992_?)del
NC_000019.9:g.(?_11238664)_(11241992_?)del
NC_000019.9:g.(?_11240169)_(11240366_?)del
NC_000019.9:g.(?_11240169)_(11241992_?)del
NC_000019.9:g.(?_11240179)_(11241992_?)del
NC_000019.9:g.(?_11241937)_(11241992_?)del
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
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.694+2T>C rs200238879
NM_000527.5(LDLR):c.1003G>T (p.Gly335Cys) rs544453230
NM_000527.5(LDLR):c.1008del (p.Gly335_Tyr336insTer) rs879254751
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1010A>G (p.Glu337Gly) rs2077362818
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter) rs2077362782
NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser) 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>C (p.Cys338Ser) rs879254754
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
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.1023del (p.Asp342fs) rs1600720921
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
NM_000527.5(LDLR):c.1039_1040insA (p.Val347fs)
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter) rs879254408
NM_000527.5(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe) rs193922566
NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter) rs13306515
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.5(LDLR):c.1056_1060+3del rs879254770
NM_000527.5(LDLR):c.1061-2A>G rs879254773
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1075C>T (p.Gln359Ter) rs879254784
NM_000527.5(LDLR):c.108_109insT (p.Gly37fs) rs2147210293
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr) rs879254788
NM_000527.5(LDLR):c.1092C>A (p.Cys364Ter) rs1555804729
NM_000527.5(LDLR):c.1098_1109del (p.Gln366_Asn370delinsHis) rs878854024
NM_000527.5(LDLR):c.1102T>A (p.Cys368Ser)
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr) rs879254792
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1118G>T (p.Gly373Val) rs879254797
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs) rs879254799
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg)
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.5(LDLR):c.1130del (p.Cys377fs) rs1131692205
NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter) rs879254802
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter) rs879254805
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.5(LDLR):c.1162_1173del (p.His388_Ala391del) rs2147241831
NM_000527.5(LDLR):c.1162del (p.His388fs) rs875989917
NM_000527.5(LDLR):c.1167del (p.Lys390fs) rs2147241875
NM_000527.5(LDLR):c.116dup (p.Cys39fs) rs2147210341
NM_000527.5(LDLR):c.1171del (p.Ala391fs) rs2147241900
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg) rs879254814
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1187-1G>T rs879254824
NM_000527.5(LDLR):c.1187-1_1187delinsTA rs2147246807
NM_000527.5(LDLR):c.1187-2A>G rs879254823
NM_000527.5(LDLR):c.1187del
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.11G>A (p.Trp4Ter) rs201016593
NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter) rs879254827
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1209C>A (p.Phe403Leu) rs777903106
NM_000527.5(LDLR):c.1215C>A (p.Asn405Lys)
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.1222G>T (p.Glu408Ter) rs137943601
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.5(LDLR):c.1243G>C (p.Asp415His) rs879254844
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1252G>T (p.Glu418Ter) rs869320651
NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp) rs879254847
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter)
NM_000527.5(LDLR):c.1272del (p.Asn425fs) rs1060500987
NM_000527.5(LDLR):c.1274del (p.Asn425fs)
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>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.5(LDLR):c.1306del (p.Val436fs) rs879254858
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter) rs879254865
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg) rs773566855
NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter) rs879254866
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.1356C>A (p.Cys452Ter) rs137853961
NM_000527.5(LDLR):c.1357del (p.Ser453fs) rs2077412367
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1358+2T>C rs193922567
NM_000527.5(LDLR):c.1359-1G>C rs139617694
NM_000527.5(LDLR):c.1371_1374dup (p.Ala459fs) rs875989920
NM_000527.5(LDLR):c.1374_1382del (p.Arg458_Gly461delinsSer) rs1600727285
NM_000527.5(LDLR):c.1382del (p.Gly461fs) rs1600727337
NM_000527.5(LDLR):c.1392del (p.Tyr465fs) rs879254888
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1402_1407del (p.Val468_Ile469del)
NM_000527.5(LDLR):c.1411del (p.Arg471fs) rs2147248471
NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs) rs1555805360
NM_000527.5(LDLR):c.1418_1432del (p.Ile473_Gly478delinsArg)
NM_000527.5(LDLR):c.1428dup (p.Asp477fs) rs876657697
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900
NM_000527.5(LDLR):c.1439C>T (p.Ala480Val) rs1064794259
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1447del (p.Trp483fs) rs2077417709
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.5(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.5(LDLR):c.1459_1472dup (p.Asp492fs) rs1600727715
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
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.1469G>A (p.Trp490Ter) rs875989922
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
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.1490del (p.Thr497fs) rs2077419273
NM_000527.5(LDLR):c.1492_1493del (p.Val498fs) rs2077419354
NM_000527.5(LDLR):c.1503_1504dup (p.Asp502fs) rs2147249259
NM_000527.5(LDLR):c.1516dup (p.Val506fs) rs2147249327
NM_000527.5(LDLR):c.1518_1586+340del
NM_000527.5(LDLR):c.1531_1532dup (p.Leu511fs) rs2147249432
NM_000527.5(LDLR):c.1540G>T (p.Glu514Ter) rs1555805507
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.156C>A (p.Cys52Ter)
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr) rs730882106
NM_000527.5(LDLR):c.157C>T (p.Gln53Ter) rs879254419
NM_000527.5(LDLR):c.1586+1G>A
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.1595_1596dup (p.Trp533fs) rs1568606711
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg) 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.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1647dup (p.Val550fs) rs1600732894
NM_000527.5(LDLR):c.1648del (p.Val550fs) rs2077459772
NM_000527.5(LDLR):c.1656del (p.Tyr553fs)
NM_000527.5(LDLR):c.1661del (p.Ser554fs) rs2147255485
NM_000527.5(LDLR):c.166T>C (p.Ser56Pro) rs878854026
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.5(LDLR):c.1685G>A (p.Trp562Ter) rs875989925
NM_000527.5(LDLR):c.1689dup (p.Asn564fs) rs879254988
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1706-1G>T rs879254996
NM_000527.5(LDLR):c.1706-2A>T rs878854027
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro) rs1249568272
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys) rs879254999
NM_000527.5(LDLR):c.1729T>A (p.Trp577Arg)
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.172G>T (p.Glu58Ter) rs879254423
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.1730_1731delinsAA (p.Trp577Ter)
NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter) rs875989928
NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1757C>G (p.Ser586Ter) rs1555806455
NM_000527.5(LDLR):c.1772dup (p.Asn591fs)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) rs879255020
NM_000527.5(LDLR):c.1794_1797del (p.Ile598fs)
NM_000527.5(LDLR):c.17G>A (p.Trp6Ter) rs2077057318
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1811delinsCT (p.Arg604fs) rs1555806529
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu) rs879255035
NM_000527.5(LDLR):c.1824del (p.Phe609fs) rs2147257944
NM_000527.5(LDLR):c.1837_1840del (p.Val613fs)
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>C
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.1846-1G>T
NM_000527.5(LDLR):c.1846-4_1850del
NM_000527.5(LDLR):c.1851del (p.Val618fs) rs1568610747
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.1859G>A (p.Trp620Ter)
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) rs879255059
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.1885_1889delinsGATCATCAACC (p.Phe629_Ser630delinsAspHisGlnPro)
NM_000527.5(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.5(LDLR):c.1891_2311+1065del
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.190+1G>A rs879254428
NM_000527.5(LDLR):c.1904_1905del (p.Thr635fs) rs2077524382
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.191-1G>T rs879254433
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.191-732_740del
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.191T>A (p.Leu64Ter) rs774016801
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser) rs879255080
NM_000527.5(LDLR):c.1953_1965del (p.Met652fs)
NM_000527.5(LDLR):c.1954_1955del (p.Met652fs) rs875989935
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs) rs879254435
NM_000527.5(LDLR):c.1964del (p.Phe655fs) rs879255089
NM_000527.5(LDLR):c.196_197del (p.Val66fs) rs875989889
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg) rs879255095
NM_000527.5(LDLR):c.1987+2T>A rs1600742966
NM_000527.5(LDLR):c.1987+2T>G rs1600742966
NM_000527.5(LDLR):c.1988-1G>A rs1555807335
NM_000527.5(LDLR):c.1997G>A (p.Trp666Ter)
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter) rs752935814
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
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.2001_2002del (p.Cys667_Glu668delinsTer) rs1600743301
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.2026G>C (p.Gly676Arg) rs745753810
NM_000527.5(LDLR):c.2030G>A (p.Cys677Tyr) rs875989938
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.204C>A (p.Cys68Ter) rs879254437
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs) rs2077532372
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
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>A (p.Cys698Ter)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2096del (p.Pro699fs) rs879255138
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs) rs879255141
NM_000527.5(LDLR):c.2113del (p.Ala705fs) rs2077534881
NM_000527.5(LDLR):c.2121_2128dup (p.Ser710delinsThrTer)
NM_000527.5(LDLR):c.2128_2131dup (p.Cys711Ter) rs2147266606
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+1G>T rs145787161
NM_000527.5(LDLR):c.214del (p.Asp72fs) rs879254438
NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs) rs1555808044
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs) rs879255159
NM_000527.5(LDLR):c.2191_2195dup (p.Ser732fs) rs2147272924
NM_000527.5(LDLR):c.2193dup (p.Ser732fs) rs2147272964
NM_000527.5(LDLR):c.2194_2198dup (p.Thr734fs) rs2147272953
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2230dup (p.Arg744fs)
NM_000527.5(LDLR):c.2232_2290del (p.Pro745fs) rs2147273159
NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs) rs879255168
NM_000527.5(LDLR):c.2270del (p.Pro757fs) rs1131692223
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
NM_000527.5(LDLR):c.2274del (p.Leu759fs) rs1555808139
NM_000527.5(LDLR):c.227_233del (p.Gly76fs) rs2147216927
NM_000527.5(LDLR):c.2282_2309dup (p.Gln770fs) rs1555808143
NM_000527.5(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs) rs1057519687
NM_000527.5(LDLR):c.230del (p.Gly77fs) rs879254440
NM_000527.5(LDLR):c.2311+1G>A rs879255175
NM_000527.5(LDLR):c.2311+1G>T
NM_000527.5(LDLR):c.2312-1G>T
NM_000527.5(LDLR):c.2312-2A>C
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.233del (p.Arg78fs) rs1057516129
NM_000527.5(LDLR):c.2389+1G>A rs879255186
NM_000527.5(LDLR):c.2389+1G>T rs879255186
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2390-1G>A rs879255193
NM_000527.5(LDLR):c.2390-2A>G rs767790696
NM_000527.5(LDLR):c.2395dup (p.Leu799fs)
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_000527.5(LDLR):c.2413G>C (p.Gly805Arg) rs879255204
NM_000527.5(LDLR):c.2416del (p.Val806fs) rs773618064
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter) rs879255212
NM_000527.5(LDLR):c.2449_2453del (p.Asn817fs) rs2147287052
NM_000527.5(LDLR):c.244T>G (p.Cys82Gly) rs879254447
NM_000527.5(LDLR):c.2459_2460insTGATGAGGATGGACAGAGAAGGTCTCTGATAAGATTTGTTTCTTTTGCCTCTCCCCTCTCCCCTCTCCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACATCAACAG (p.Ser820_Ile821insAspGluAspGlyGlnArgArgSerLeuIleArgPheValSerPheAlaSerProLeuSerProLeuProXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysLysLysAsnIleAsnSer)
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe) rs879254448
NM_000527.5(LDLR):c.2462_2463insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile821_Asn822insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) rs2147287035
NM_000527.5(LDLR):c.2469_2470insTTTTTTTTTTTTTTTTTNNNNNNNNNNTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCGGCCAACAGCATCAACTTT (p.Asp824delinsPhePhePhePhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer) rs2147287083
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.2485C>T (p.Gln829Ter) rs2077688650
NM_000527.5(LDLR):c.2488A>T (p.Lys830Ter) rs2147287222
NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs) rs1600704961
NM_000527.5(LDLR):c.2500del (p.Asp834fs) rs1555809594
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.2530_2542del (p.Gly844fs) rs2147287353
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp) rs121908037
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.5(LDLR):c.2547+1G>A rs879255224
NM_000527.5(LDLR):c.255_313+198del
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer) rs879254453
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr) rs875989894
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.274C>T (p.Gln92Ter) rs774467219
NM_000527.5(LDLR):c.274del (p.Gln92fs) rs2077232183
NM_000527.5(LDLR):c.276del (p.Val93fs)
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.5(LDLR):c.303del (p.Glu101fs) rs764797225
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.30G>A (p.Trp10Ter) rs1568582652
NM_000527.5(LDLR):c.310T>C (p.Cys104Arg) rs879254464
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.314-2A>G
NM_000527.5(LDLR):c.318del (p.Lys107fs) rs875989898
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.327C>A (p.Cys109Ter) rs1057519654
NM_000527.5(LDLR):c.331C>T (p.Gln111Ter) rs2147223179
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.337dup (p.Glu113fs) rs752191968
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.353del (p.Asp118fs) rs879254488
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.5(LDLR):c.373_383delinsAAGTGCA (p.Gln125fs)
NM_000527.5(LDLR):c.378del (p.Phe126fs) rs1555803213
NM_000527.5(LDLR):c.379del (p.Val127fs) rs878854028
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr) rs879254514
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe) rs879254514
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.41T>A (p.Leu14Ter) rs1600683731
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.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
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.467del (p.Asn156fs) rs1057516135
NM_000527.5(LDLR):c.469_470dup (p.Ser157fs) rs2077272442
NM_000527.5(LDLR):c.480_492del (p.Ile161fs)
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg) rs879254547
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
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.505_511del (p.Asn169fs) rs1568594903
NM_000527.5(LDLR):c.513del (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.513dup (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.514G>C (p.Asp172His) rs879254554
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter) rs879254569
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.557del (p.Gly186fs) rs879254573
NM_000527.5(LDLR):c.560_570del (p.Leu187fs) rs2077275747
NM_000527.5(LDLR):c.562del (p.Tyr188fs) rs879254575
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.568_590del (p.Phe190fs) rs879254577
NM_000527.5(LDLR):c.577dup (p.Asp193fs) rs2077276411
NM_000527.5(LDLR):c.579del (p.Asp193fs) rs2077276612
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.599T>G (p.Phe200Cys) rs879254586
NM_000527.5(LDLR):c.600dup (p.Glu201fs)
NM_000527.5(LDLR):c.620_626del (p.Gly207fs) rs2147225024
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.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.651_687del (p.Asp217fs) rs879254615
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.658_663del (p.Pro220_Asp221del) rs1555803409
NM_000527.5(LDLR):c.660del (p.Asp221fs) rs875989905
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.661_677del (p.Pro220_Asp221insTer) rs879254619
NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs) rs2077280444
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.5(LDLR):c.664_672del (p.Cys222_Asp224del)
NM_000527.5(LDLR):c.666C>A (p.Cys222Ter) rs756613387
NM_000527.5(LDLR):c.667_677del (p.Cys222_Lys223insTer)
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.670_672del (p.Asp224del)
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) rs879254630
NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del) rs1555803439
NM_000527.5(LDLR):c.673_682delinsTGCA (p.Lys225_Glu228delinsCysLys)
NM_000527.5(LDLR):c.677_681dup (p.Glu228fs) rs2077282376
NM_000527.5(LDLR):c.678_681dup (p.Glu228Ter) rs2077282376
NM_000527.5(LDLR):c.68-1G>A rs879254397
NM_000527.5(LDLR):c.68-1G>C rs879254397
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.680_682delinsCA (p.Asp227fs) rs879254637
NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs) rs879254637
NM_000527.5(LDLR):c.681C>A (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.682del (p.Glu228fs) rs879254640
NM_000527.5(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del) rs1064792905
NM_000527.5(LDLR):c.684G>C (p.Glu228Asp) rs1208216597
NM_000527.5(LDLR):c.685G>T (p.Glu229Ter)
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.694+1G>A rs879254646
NM_000527.5(LDLR):c.694+1G>C rs879254646
NM_000527.5(LDLR):c.695-1G>A rs879254652
NM_000527.5(LDLR):c.695-1G>C
NM_000527.5(LDLR):c.695-1G>T rs879254652
NM_000527.5(LDLR):c.699_708del (p.Thr235fs) rs2077297994
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.718G>T (p.Glu240Ter) rs768563000
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.752dup (p.Ser252fs) rs879254666
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter) rs2147228929
NM_000527.5(LDLR):c.791del (p.Met264fs) rs2077300688
NM_000527.5(LDLR):c.805_813del (p.Gly269_Val271del)
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
NM_000527.5(LDLR):c.810C>A (p.Cys270Ter) rs773328511
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.818-1G>A rs879254688
NM_000527.5(LDLR):c.818-2A>G
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.832G>T (p.Gly278Ter) rs1600715039
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.867C>A (p.Cys289Ter)
NM_000527.5(LDLR):c.86del (p.Arg29fs)
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) rs879254704
NM_000527.5(LDLR):c.883del (p.Val295fs) rs2077313046
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.888C>A (p.Cys296Ter) rs879254708
NM_000527.5(LDLR):c.893dup (p.Met298fs)
NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr) rs879254713
NM_000527.5(LDLR):c.901_911del (p.Asp301fs) rs2077313770
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
NM_000527.5(LDLR):c.902A>T (p.Asp301Val)
NM_000527.5(LDLR):c.905del (p.Cys302fs) rs1057516130
NM_000527.5(LDLR):c.906C>A (p.Cys302Ter)
NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer) rs875989908
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.914G>A (p.Trp305Ter) rs879254717
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter) rs776421777
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly) rs1555803908
NM_000527.5(LDLR):c.922G>T (p.Glu308Ter) rs879254721
NM_000527.5(LDLR):c.925_931del (p.Pro309fs) rs387906304
NM_000527.5(LDLR):c.932_933del (p.Lys311fs) rs879254723
NM_000527.5(LDLR):c.933del (p.Glu312fs) rs879254723
NM_000527.5(LDLR):c.937_938dup (p.Gly314fs)
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.5(LDLR):c.940+3_940+6del rs2077315885
NM_000527.5(LDLR):c.940_940+14del rs1057519665
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.951del (p.Glu317fs) rs879254737
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.961_962del (p.Asn321fs) rs879254740
NM_000527.5(LDLR):c.966del (p.Asn322fs) rs2077361078
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000527.5(LDLR):c.975_986del (p.Ser326_Cys329del) rs2077361365
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_000527.5(LDLR):c.979del (p.His327fs) rs2077361581
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_000527.5(LDLR):c.97_115del (p.Gln33fs) rs2147210191
NM_000527.5(LDLR):c.996_1009delinsGCA (p.Lys333fs) rs1568600415
NM_000527.5(LDLR):c.996_998delinsG (p.Lys333fs)
NM_015627.3(LDLRAP1):c.466del (p.Ala156fs)
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) rs781585299
NM_015627.3(LDLRAP1):c.71del (p.Gly24fs) rs1201229554
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs) rs1201229554
NM_015627.3(LDLRAP1):c.89-1G>C rs755104973
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)

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