ClinVar Miner

List of variants in gene LDLR reported as pathogenic for Familial hypercholesterolemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1437
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HGVS dbSNP
FH Aarhus
FH Bologna 2
FH Cape Town 2
FH French Canadian 5
FH Leiden 3
FH London 1
FH London 2
FH Nashville
FH Paris 1 rs1555803632
FH Paris 2
FH Pavia
FH Reykjavik
FH Tonami 1
FH Tsukuba 2
FH Vancouver 2
FH Vancouver 3
FH Vancouver 4
FH Vancouver 6
GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1
GRCh38/hg38 19p13.2(chr19:11089362-11100346)x1
GRCh38/hg38 19p13.2(chr19:11089362-11107515)x1
GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1
GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1
GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1
GRCh38/hg38 19p13.2(chr19:11106564-11107515)x1
GRCh38/hg38 19p13.2(chr19:11116093-11116999)x1
GRCh38/hg38 19p13.2(chr19:11120091-11120523)x1
GRCh38/hg38 19p13.2(chr19:11120091-11123345)x1
GRCh38/hg38 19p13.2(chr19:11128007-11133830)x1
GRCh38/hg38 19p13.2(chr19:11129512-11133830)x1
LDLR, EX17-18DEL
LDLR, EX2-8DUP
LRG_274t1:c.5-kbdel
LRG_274t1:c.>15-kbdel
NC_000019.10:g.(11077742_11077775)_(11093595_11093630)del
NC_000019.10:g.(?_11089529)_(11100365_?)del
NC_000019.10:g.(?_11100203)_(11102806_?)del
NC_000019.10:g.(?_11100203)_(11111659_?)dup
NC_000019.10:g.(?_11102644)_(11107534_?)del
NC_000019.10:g.(?_11116074)_(11131359_?)del
NC_000019.10:g.(?_11120072)_(11120608_?)del
NC_000019.10:g.(?_11123154)_(11131359_?)del
NC_000019.10:g.(?_11127988)_(11128105_?)del
NC_000019.10:g.(?_11129513)_(11133830_?)del
NC_000019.9:g.(11200292_11210898)_(11211022_11213339)del
NC_000019.9:g.(11200292_11210898)_(11216277_11217240)del
NC_000019.9:g.(11200292_11210898)_(11217364_11218067)del
NC_000019.9:g.(11200292_11210898)_(11224439_11226769)del
NC_000019.9:g.(11200292_11210898)_(11226889_11227534)del
NC_000019.9:g.(11200292_11210898)_(11227675_11230767)del
NC_000019.9:g.(11200292_11210898)_(11231199_11233849)del
NC_000019.9:g.(11200292_11210898)_(11240347_11241956)del
NC_000019.9:g.(11211022_11213339)_(11213463_11215895)del
NC_000019.9:g.(11211022_11213339)_(11216277_11217240)del
NC_000019.9:g.(11211022_11213339)_(11217364_11218067)del
NC_000019.9:g.(11211022_11213339)_(11218191_11221327)del
NC_000019.9:g.(11211022_11213339)_(11221448_11222189)del
NC_000019.9:g.(11211022_11213339)_(11224439_11226769)del
NC_000019.9:g.(11211022_11213339)_(11227675_11230767)del
NC_000019.9:g.(11211022_11213339)_(11227675_11230767)dup
NC_000019.9:g.(11213463_11215895)_(11216277_11217240)del
NC_000019.9:g.(11216277_11217240)_(11217364_11218067)del
NC_000019.9:g.(11216277_11217240)_(11218191_11221327)del
NC_000019.9:g.(11216277_11217240)_(11224439_11226769)del
NC_000019.9:g.(11217364_11218067)_(11218191_11221327)del
NC_000019.9:g.(11217364_11218067)_(11222316_11223953)del
NC_000019.9:g.(11217364_11218067)_(11244506_?)del
NC_000019.9:g.(11218191_11221327)_(11224439_11226769)del
NC_000019.9:g.(11218191_11221327)_(11224439_11226769)dup
NC_000019.9:g.(11218191_11221327)_(11227675_11230767)del
NC_000019.9:g.(11218191_11221327)_(11227675_11230767)dup
NC_000019.9:g.(11218191_11221327)_(11231199_11233849)del
NC_000019.9:g.(11218191_11221327)_(11234021_11238683)del
NC_000019.9:g.(11218191_11221327)_(11244506_?)dup
NC_000019.9:g.(11221448_11222189)_(11222316_11223953)del
NC_000019.9:g.(11221448_11222189)_(11224439_11226769)dup
NC_000019.9:g.(11221448_11222189)_(11227675_11230767)del
NC_000019.9:g.(11222316_11223953)_(11224126_11224210)del
NC_000019.9:g.(11222316_11223953)_(11224126_11224210)dup
NC_000019.9:g.(11222316_11223953)_(11224439_11226769)del
NC_000019.9:g.(11222316_11223953)_(11224439_11226769)dup
NC_000019.9:g.(11222316_11223953)_(11227675_11230767)del
NC_000019.9:g.(11222316_11223953)_(11227675_11230767)dup
NC_000019.9:g.(11222316_11223953)_(11231199_11233849)del
NC_000019.9:g.(11222316_11223953)_(11231199_11233849)dup
NC_000019.9:g.(11222316_11223953)_(11244506_?)del
NC_000019.9:g.(11224439_11226769)_(11226889_11227534)del
NC_000019.9:g.(11224439_11226769)_(11227675_11230767)del
NC_000019.9:g.(11224439_11226769)_(11227675_11230767)dup
NC_000019.9:g.(11224439_11226769)_(11231199_11233849)del
NC_000019.9:g.(11224439_11226769)_(11231199_11233849)dup
NC_000019.9:g.(11224439_11226769)_(11234021_11238683)del
NC_000019.9:g.(11224439_11226769)_(11238762_11240188)del
NC_000019.9:g.(11224439_11226769)_(11240347_11241956)del
NC_000019.9:g.(11224439_11226769)_(11244506_?)del
NC_000019.9:g.(11226889_11227534)_(11227675_11230767)del
NC_000019.9:g.(11226889_11227534)_(11227675_11230767)dup
NC_000019.9:g.(11226889_11227534)_(11238762_11240188)del
NC_000019.9:g.(11226889_11227534)_(11244506_?)del
NC_000019.9:g.(11227675_11230767)_(11231199_11233849)dup
NC_000019.9:g.(11227675_11230767)_(11234021_11238683)del
NC_000019.9:g.(11227675_11230767)_(11244506_?)del
NC_000019.9:g.(11230910_11231045)_(11234021_11238683)del
NC_000019.9:g.(11231199_11233849)_(11244506_?)del
NC_000019.9:g.(11234021_11238683)_(11240347_11241956)del
NC_000019.9:g.(11234021_11238683)_(11240347_11241956)dup
NC_000019.9:g.(11234021_11238683)_(11242212_?)del
NC_000019.9:g.(11234021_11238683)_(11242799_?)del
NC_000019.9:g.(11234021_11238683)_(11244506_?)del
NC_000019.9:g.(11238762_11240188)_(11240347_11241956)del
NC_000019.9:g.(11238762_11240188)_(11244506_?)del
NC_000019.9:g.(?_11200038)_(11200292_11210898)del
NC_000019.9:g.(?_11200038)_(11211022_11213339)del
NC_000019.9:g.(?_11200038)_(11218191_11221327)del
NC_000019.9:g.(?_11200038)_(11221448_11222189)del
NC_000019.9:g.(?_11200038)_(11222316_11223953)del
NC_000019.9:g.(?_11200038)_(11227675_11230767)del
NC_000019.9:g.(?_11200038)_(11231199_11233849)del
NC_000019.9:g.(?_11200038)_(11234021_11238683)del
NC_000019.9:g.(?_11200038)_(11244576_?)del
NC_000019.9:g.(?_11200292)_(11210898_11227675)del
NC_000019.9:g.(?_11211022)_(11213339_11216277)del
NC_000019.9:g.(?_11211022)_(11213339_11217364)del
NC_000019.9:g.(?_11211022)_(11213339_11224439)del
NG_009060.1:g.17772_23765del5994
NG_009060.1:g.21829_24193del2365
NG_009060.1:g.22304_23012del709 rs1555803722
NG_009060.1:g.26385_27137del753 rs1555804565
NG_009060.1:g.39215_47749del8535
NG_009060.1:g.9996_22680del12685
NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del
NM_000527.4(LDLR):c.(1586+1_1587-1)_(2547+1_2548-1)del
NM_000527.4(LDLR):c.(1845+1_1846-1)_(*_?)del
NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del
NM_000527.4(LDLR):c.(2311+1_2312-1)_(2547+1_2548-1)del
NM_000527.4(LDLR):c.(2389+1_2390-1)_(*_?)del
NM_000527.4(LDLR):c.(313+1_314-1)_(1586+1_1587-1)dup
NM_000527.4(LDLR):c.(313+1_314-1)_(940+1_941-1)del
NM_000527.4(LDLR):c.(67+1_68-1)_(1586+1_1587-1)del
NM_000527.4(LDLR):c.(67+1_68-1)_(2311+1_2312-1)dup
NM_000527.4(LDLR):c.(940+1_941-1)_(1186+1_1187-1)del
NM_000527.4(LDLR):c.(940+1_941-1)_(1586+1_1587-1)del
NM_000527.4(LDLR):c.(940+1_941-1)_(1845+1_1846-1)del
NM_000527.4(LDLR):c.(?_-1)_(1845+1_1846-1)dup
NM_000527.4(LDLR):c.(?_-1)_(67+1_68-1)del
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-138delT rs387906307
NM_000527.4(LDLR):c.-142C>G rs879254370
NM_000527.4(LDLR):c.-150A>G rs1555800632
NM_000527.4(LDLR):c.-151C>G rs1555800631
NM_000527.4(LDLR):c.-152C>T rs879254367
NM_000527.4(LDLR):c.-172G>A rs1555800629
NM_000527.4(LDLR):c.-1823_190+566del
NM_000527.4(LDLR):c.-187_-185del rs1270618112
NM_000527.4(LDLR):c.-187_67+?del
NM_000527.4(LDLR):c.-188C>T rs878854023
NM_000527.4(LDLR):c.-193_-187delinsTG rs1555800620
NM_000527.4(LDLR):c.-229_-90del rs1555800611
NM_000527.4(LDLR):c.-98C>T rs1555800648
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.4(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.4(LDLR):c.1008C>A (p.Tyr336Ter) rs767024374
NM_000527.4(LDLR):c.1008del (p.Tyr336Terfs) rs879254751
NM_000527.4(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.4(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.4(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.4(LDLR):c.1013G>A (p.Cys338Tyr) rs879254754
NM_000527.4(LDLR):c.1014C>A (p.Cys338Ter) rs879254755
NM_000527.4(LDLR):c.1017dup (p.Cys340Valfs) rs879254757
NM_000527.4(LDLR):c.1019_1020delGCinsTG (p.Cys340Leu) rs879254758
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.4(LDLR):c.1028G>T (p.Gly343Val) rs879254760
NM_000527.4(LDLR):c.102C>A (p.Cys34Ter) rs879254407
NM_000527.4(LDLR):c.1031del (p.Phe344Serfs) rs879254761
NM_000527.4(LDLR):c.1033C>T (p.Gln345Ter) rs875989913
NM_000527.4(LDLR):c.1034dup (p.Leu346Alafs) rs879254762
NM_000527.4(LDLR):c.103C>T (p.Gln35Ter) rs879254408
NM_000527.4(LDLR):c.1042_1043insA (p.Ala348Aspfs) rs879254763
NM_000527.4(LDLR):c.1042del (p.Ala348Profs) rs879254764
NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.4(LDLR):c.1045del (p.Gln349Serfs) rs879254765
NM_000527.4(LDLR):c.1045dup (p.Gln349Profs) rs879254765
NM_000527.4(LDLR):c.1046delA (p.Gln349Argfs) rs879254767
NM_000527.4(LDLR):c.1046dup (p.Arg350Alafs) rs1555804545
NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter) rs769737896
NM_000527.4(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.4(LDLR):c.1053_1060dup (p.Ile355Alafs) rs879254768
NM_000527.4(LDLR):c.1054T>C (p.Cys352Arg) rs879254769
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1056C>A (p.Cys352Ter) rs13306515
NM_000527.4(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.4(LDLR):c.1056_1060+3delCGAAGGTG rs879254770
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1057G>T (p.Glu353Ter) rs370471092
NM_000527.4(LDLR):c.1060+1G>A rs879254771
NM_000527.4(LDLR):c.1061-1G>A rs879254774
NM_000527.4(LDLR):c.1061-1G>C rs879254774
NM_000527.4(LDLR):c.1061-?_1845+?del
NM_000527.4(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.4(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.4(LDLR):c.1062dup (p.Ile355Tyrfs) rs879254775
NM_000527.4(LDLR):c.1064dup (p.Asp356Argfs) rs1555804700
NM_000527.4(LDLR):c.1066G>A (p.Asp356Asn) rs767767730
NM_000527.4(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.4(LDLR):c.1067A>T (p.Asp356Val) rs879254777
NM_000527.4(LDLR):c.1067del (p.Asp356Valfs) rs879254778
NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1070A>G (p.Glu357Gly) rs753248521
NM_000527.4(LDLR):c.1070_1073dup (p.Cys358Terfs) rs879254782
NM_000527.4(LDLR):c.1070delA (p.Glu357Glyfs) rs1555804717
NM_000527.4(LDLR):c.1072T>C (p.Cys358Arg) rs879254783
NM_000527.4(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.4(LDLR):c.1075C>T (p.Gln359Ter) rs879254784
NM_000527.4(LDLR):c.1081C>T (p.Pro361Ser) rs1131692203
NM_000527.4(LDLR):c.1085delA (p.Asp362Alafs) rs879254786
NM_000527.4(LDLR):c.108del (p.Asp36Glufs) rs879254409
NM_000527.4(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
NM_000527.4(LDLR):c.1096C>T (p.Gln366Ter) rs879254789
NM_000527.4(LDLR):c.1099_1104delCTCTGCinsGT (p.Leu367Valfs) rs879254790
NM_000527.4(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.4(LDLR):c.1102T>G (p.Cys368Gly) rs879254791
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1103G>C (p.Cys368Ser) rs768430352
NM_000527.4(LDLR):c.1104C>A (p.Cys368Ter) rs113669610
NM_000527.4(LDLR):c.1113_1114insTGGG (p.Glu372Trpfs) rs879254794
NM_000527.4(LDLR):c.1114G>T (p.Glu372Ter) rs1131692204
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1118_1121dupGTGG (p.Tyr375Trpfs) rs875989916
NM_000527.4(LDLR):c.1120_1123dup (p.Tyr375Trpfs) rs879254799
NM_000527.4(LDLR):c.1123_1124insC (p.Tyr375Serfs) rs1555804777
NM_000527.4(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.4(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.4(LDLR):c.1130del (p.Cys377Serfs) rs1131692205
NM_000527.4(LDLR):c.1132C>T (p.Gln378Ter) rs879254802
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1133_1186+12del rs1555804793
NM_000527.4(LDLR):c.1135T>C (p.Cys379Arg) rs879254803
NM_000527.4(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.4(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.4(LDLR):c.114dup (p.Cys39Metfs) rs879254410
NM_000527.4(LDLR):c.1150C>T (p.Gln384Ter) rs879254805
NM_000527.4(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.4(LDLR):c.1154T>C (p.Leu385Pro) rs879254809
NM_000527.4(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.4(LDLR):c.1158_1162dup (p.His388Profs) rs875989917
NM_000527.4(LDLR):c.115T>C (p.Cys39Arg) rs1555802275
NM_000527.4(LDLR):c.1162delC (p.His388Thrfs) rs875989917
NM_000527.4(LDLR):c.1162dup (p.His388Profs) rs875989917
NM_000527.4(LDLR):c.1166C>T (p.Thr389Met) rs149227308
NM_000527.4(LDLR):c.1168A>T (p.Lys390Ter) rs879254811
NM_000527.4(LDLR):c.116G>T (p.Cys39Phe) rs1131692189
NM_000527.4(LDLR):c.116_117delGCinsAA (p.Cys39Ter) rs879254411
NM_000527.4(LDLR):c.1173delC (p.Cys392Alafs) rs879254812
NM_000527.4(LDLR):c.1174T>C (p.Cys392Arg) rs879254814
NM_000527.4(LDLR):c.1174dup (p.Cys392Leufs) rs879254813
NM_000527.4(LDLR):c.1175G>A (p.Cys392Tyr) rs1060500986
NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.4(LDLR):c.1178del (p.Lys393Argfs) rs879254815
NM_000527.4(LDLR):c.117del (p.Cys39Terfs) rs879254412
NM_000527.4(LDLR):c.1182delT (p.Val395Trpfs) rs879254817
NM_000527.4(LDLR):c.1184_1185del (p.Val395Glyfs) rs1060499922
NM_000527.4(LDLR):c.1186+1G>A rs730880131
NM_000527.4(LDLR):c.1186+5G>A rs879254821
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1186delG (p.Gly396Alafs) rs879254819
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1187-1G>A rs879254824
NM_000527.4(LDLR):c.1187-2A>G rs879254823
NM_000527.4(LDLR):c.1187-?_1586+?del
NM_000527.4(LDLR):c.1187G>A (p.Gly396Asp) rs766474188
NM_000527.4(LDLR):c.1187del (p.Gly396Alafs) rs1057519667
NM_000527.4(LDLR):c.1189T>A (p.Ser397Thr) rs879254825
NM_000527.4(LDLR):c.118delA (p.Ile40Serfs) rs879254413
NM_000527.4(LDLR):c.1195G>A (p.Ala399Thr) rs730882099
NM_000527.4(LDLR):c.1195G>T (p.Ala399Ser) rs730882099
NM_000527.4(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.4(LDLR):c.1199_1207delACCTCTTCT (p.Tyr400_Phe402del) rs879254826
NM_000527.4(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.4(LDLR):c.1200C>A (p.Tyr400Ter) rs879254827
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.4(LDLR):c.1204_1205del (p.Phe402Leufs) rs1060499923
NM_000527.4(LDLR):c.1205dup (p.Phe403Leufs) rs879254828
NM_000527.4(LDLR):c.1206_1207delCT (p.Phe403Hisfs) rs879254829
NM_000527.4(LDLR):c.1207T>C (p.Phe403Leu) rs879254831
NM_000527.4(LDLR):c.1208del (p.Phe403Serfs) rs879254832
NM_000527.4(LDLR):c.1209del (p.Phe403Leufs) rs879254833
NM_000527.4(LDLR):c.1211C>T (p.Thr404Ile) rs879254835
NM_000527.4(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.4(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.4(LDLR):c.1217G>C (p.Arg406Pro) rs552422789
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1233delG (p.Met412Terfs) rs879254841
NM_000527.4(LDLR):c.1234A>C (p.Met412Leu) rs1225797407
NM_000527.4(LDLR):c.1235T>C (p.Met412Thr) rs879254842
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
NM_000527.4(LDLR):c.1243G>C (p.Asp415His) rs879254844
NM_000527.4(LDLR):c.1244A>G (p.Asp415Gly) rs879254845
NM_000527.4(LDLR):c.1245_1249dup (p.Ser417Thrfs) rs879254846
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.4(LDLR):c.1247G>C (p.Arg416Pro) rs773658037
NM_000527.4(LDLR):c.1247G>T (p.Arg416Leu) rs773658037
NM_000527.4(LDLR):c.1252G>T (p.Glu418Ter) rs869320651
NM_000527.4(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.4(LDLR):c.1257C>A (p.Tyr419Ter) rs774439908
NM_000527.4(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.4(LDLR):c.1265T>C (p.Leu422Pro) rs879254848
NM_000527.4(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.4(LDLR):c.126C>A (p.Tyr42Ter) rs751317621
NM_000527.4(LDLR):c.126C>G (p.Tyr42Ter) rs751317621
NM_000527.4(LDLR):c.1272delC (p.Asn425Thrfs) rs1060500987
NM_000527.4(LDLR):c.1274A>T (p.Asn425Ile) rs879254850
NM_000527.4(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.4(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1291_1331del41 (p.Ala431Terfs) rs879254854
NM_000527.4(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.4(LDLR):c.1295T>C (p.Leu432Pro) rs879254855
NM_000527.4(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.4(LDLR):c.1297G>T (p.Asp433Tyr) rs121908036
NM_000527.4(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.4(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.4(LDLR):c.1303delG (p.Glu435Argfs) rs879254857
NM_000527.4(LDLR):c.1306delG (p.Val436Trpfs) rs879254858
NM_000527.4(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.4(LDLR):c.1309dup (p.Ala437Glyfs) rs879254859
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.131_132dup (p.Val45Glyfs) rs879254414
NM_000527.4(LDLR):c.1322T>A (p.Ile441Asn) rs879254862
NM_000527.4(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.4(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.4(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.4(LDLR):c.1326C>G (p.Tyr442Ter) rs879254865
NM_000527.4(LDLR):c.1328G>A (p.Trp443Ter) rs879254866
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1329G>A (p.Trp443Ter) rs879254867
NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.132G>A (p.Trp44Ter) rs1555802287
NM_000527.4(LDLR):c.1330T>C (p.Ser444Pro) rs875989919
NM_000527.4(LDLR):c.1330del (p.Ser444Leufs) rs1057519671
NM_000527.4(LDLR):c.1336del (p.Leu446Cysfs) rs879254868
NM_000527.4(LDLR):c.1340C>G (p.Ser447Cys) rs879254870
NM_000527.4(LDLR):c.1342C>A (p.Gln448Lys) rs879254871
NM_000527.4(LDLR):c.1342C>T (p.Gln448Ter) rs879254871
NM_000527.4(LDLR):c.1343del (p.Gln448Argfs) rs879254872
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.1358+1G>A rs775924858
NM_000527.4(LDLR):c.1358+2T>A rs193922567
NM_000527.4(LDLR):c.1358+5G>T rs1060499924
NM_000527.4(LDLR):c.1363C>T (p.Gln455Ter) rs879254880
NM_000527.4(LDLR):c.1363del (p.Gln455Serfs) rs879254881
NM_000527.4(LDLR):c.1365delG (p.Gln455Hisfs) rs879254882
NM_000527.4(LDLR):c.1367T>C (p.Leu456Pro) rs200143634
NM_000527.4(LDLR):c.1367_1376del (p.Leu456Profs) rs879254883
NM_000527.4(LDLR):c.136T>G (p.Cys46Gly) rs879254415
NM_000527.4(LDLR):c.1371_1374dupCAGA (p.Ala459Glnfs) rs875989920
NM_000527.4(LDLR):c.1374_1375del (p.Arg458Serfs) rs879254884
NM_000527.4(LDLR):c.1377_1380del (p.His460Alafs) rs879254885
NM_000527.4(LDLR):c.1379_1394del16insCAGCT (p.His460Profs) rs1555805337
NM_000527.4(LDLR):c.1379_1396del18insCAGCTTA (p.His460Profs) rs879254886
NM_000527.4(LDLR):c.1379_1402del24insCAGCTTGACCCGC (p.His460Profs) rs879254887
NM_000527.4(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_000527.4(LDLR):c.138C>A (p.Cys46Ter) rs754676104
NM_000527.4(LDLR):c.1392delC (p.Tyr465Metfs) rs879254888
NM_000527.4(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101
NM_000527.4(LDLR):c.1393del (p.Tyr465Metfs) rs1555805348
NM_000527.4(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.4(LDLR):c.139G>A (p.Asp47Asn) rs778284147
NM_000527.4(LDLR):c.139G>C (p.Asp47His) rs778284147
NM_000527.4(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.4(LDLR):c.140_153del (p.Asp47Valfs) rs1555802291
NM_000527.4(LDLR):c.1413_1414delAGinsGGACAT (p.Gln474Hisfs) rs1555805360
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1415_1418dupACAT (p.Gln474Hisfs) rs879254892
NM_000527.4(LDLR):c.1420C>T (p.Gln474Ter) rs201967266
NM_000527.4(LDLR):c.1423_1424delGCinsA (p.Ala475Thrfs) rs879254896
NM_000527.4(LDLR):c.1426C>T (p.Pro476Ser) rs879254898
NM_000527.4(LDLR):c.1427C>T (p.Pro476Leu) rs1131692208
NM_000527.4(LDLR):c.1428dupC (p.Asp477Argfs) rs876657697
NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1433G>A (p.Gly478Glu) rs1555805380
NM_000527.4(LDLR):c.1434del (p.Leu479Trpfs) rs879254899
NM_000527.4(LDLR):c.1435C>G (p.Leu479Val) rs1254928151
NM_000527.4(LDLR):c.1438G>A (p.Ala480Thr) rs879254901
NM_000527.4(LDLR):c.1439_1449delCTGTGGACTGG (p.Ala480Aspfs) rs879254902
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.4(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.4(LDLR):c.1448G>T (p.Trp483Leu) rs875989921
NM_000527.4(LDLR):c.1449G>A (p.Trp483Ter) rs879254907
NM_000527.4(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1456del (p.Ser486Alafs) rs1131692209
NM_000527.4(LDLR):c.1461dup (p.Ile488Hisfs) rs1555805409
NM_000527.4(LDLR):c.1462_1463insC (p.Ile488Thrfs) rs1555805413
NM_000527.4(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) rs879254913
NM_000527.4(LDLR):c.1466A>G (p.Tyr489Cys) rs879254914
NM_000527.4(LDLR):c.1467C>A (p.Tyr489Ter) rs370777955
NM_000527.4(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.4(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.4(LDLR):c.1469G>A (p.Trp490Ter) rs875989922
NM_000527.4(LDLR):c.1469G>T (p.Trp490Leu) rs875989922
NM_000527.4(LDLR):c.1470G>A (p.Trp490Ter) rs879254915
NM_000527.4(LDLR):c.1471dup (p.Thr491Asnfs) rs879254916
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.4(LDLR):c.1474del (p.Asp492Thrfs) rs1135402774
NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.4(LDLR):c.1477_1479delTCTinsAGAGACA (p.Ser493Argfs) rs879254919
NM_000527.4(LDLR):c.1478_1479delCT (p.Ser493Cysfs) rs869025453
NM_000527.4(LDLR):c.1478del (p.Ser493Leufs) rs1057519672
NM_000527.4(LDLR):c.1486_1487delGG (p.Gly496Hisfs) rs869025454
NM_000527.4(LDLR):c.148del (p.Ala50Leufs) rs879254417
NM_000527.4(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.4(LDLR):c.1496_1497del (p.Ser499Cysfs) rs879254922
NM_000527.4(LDLR):c.1498_1499del (p.Val500Cysfs) rs879254923
NM_000527.4(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.4(LDLR):c.1502dup (p.Asp502Glyfs) rs879254924
NM_000527.4(LDLR):c.1504G>T (p.Asp502Tyr) rs879254925
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1510A>T (p.Lys504Ter) rs730882103
NM_000527.4(LDLR):c.1516G>A (p.Val506Met) rs373848925
NM_000527.4(LDLR):c.1516_1562del47 (p.Val506Hisfs) rs879254927
NM_000527.4(LDLR):c.1520A>C (p.Lys507Thr) rs879254929
NM_000527.4(LDLR):c.1521G>C (p.Lys507Asn) rs1555805490
NM_000527.4(LDLR):c.1522delAinsCTGAAT (p.Arg508Leufs) rs879254930
NM_000527.4(LDLR):c.1525A>G (p.Lys509Glu) rs879254931
NM_000527.4(LDLR):c.1529del (p.Thr510Serfs) rs1057519673
NM_000527.4(LDLR):c.1530del (p.Leu511Tyrfs) rs1131692210
NM_000527.4(LDLR):c.1532T>G (p.Leu511Ter) rs879254932
NM_000527.4(LDLR):c.1533dupA (p.Phe512Ilefs) rs879254933
NM_000527.4(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.4(LDLR):c.1549_1555del (p.Ser517Glnfs) rs879254935
NM_000527.4(LDLR):c.1555C>A (p.Pro519Thr) rs875989923
NM_000527.4(LDLR):c.1558A>G (p.Arg520Gly) rs879254939
NM_000527.4(LDLR):c.155G>A (p.Cys52Tyr) rs879254418
NM_000527.4(LDLR):c.1566del (p.Ile522Metfs) rs1131692211
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1570_1579del (p.Val524Phefs) rs1555805530
NM_000527.4(LDLR):c.1571_1572del (p.Val524Glyfs) rs1057519674
NM_000527.4(LDLR):c.1571_1573del (p.Val524del) rs1131692212
NM_000527.4(LDLR):c.1571_1586+3dup rs1555805531
NM_000527.4(LDLR):c.1573_1586+5del rs1135402776
NM_000527.4(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1577C>G (p.Pro526Arg) rs879254944
NM_000527.4(LDLR):c.157C>T (p.Gln53Ter) rs879254419
NM_000527.4(LDLR):c.1586+1G>A rs755389753
NM_000527.4(LDLR):c.1586+1G>T rs755389753
NM_000527.4(LDLR):c.1586+2T>A rs879254945
NM_000527.4(LDLR):c.1586+2T>C rs879254945
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.1587-2A>T rs879254947
NM_000527.4(LDLR):c.1587-5_1618del rs1555805930
NM_000527.4(LDLR):c.1587-?_1845+?del
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.1587_1591delCTTCA (p.Phe530Valfs) rs879254949
NM_000527.4(LDLR):c.1588T>G (p.Phe530Val) rs875989924
NM_000527.4(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.4(LDLR):c.1595_1596dup (p.Trp533Thrfs)
NM_000527.4(LDLR):c.1596C>G (p.Tyr532Ter) rs1555805947
NM_000527.4(LDLR):c.1597T>C (p.Trp533Arg) rs879254951
NM_000527.4(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.4(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.4(LDLR):c.1601C>A (p.Thr534Asn) rs879254954
NM_000527.4(LDLR):c.1603G>A (p.Asp535Asn) rs879254955
NM_000527.4(LDLR):c.1603G>T (p.Asp535Tyr) rs879254955
NM_000527.4(LDLR):c.1607G>A (p.Trp536Ter) rs879254957
NM_000527.4(LDLR):c.1609G>T (p.Gly537Ter) rs879254958
NM_000527.4(LDLR):c.1610del (p.Gly537Glufs) rs879254959
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
NM_000527.4(LDLR):c.1620dup (p.Lys541Glnfs) rs1555805985
NM_000527.4(LDLR):c.1625T>G (p.Ile542Ser) rs879254962
NM_000527.4(LDLR):c.1629_1652del (p.Lys543_Asp551delinsAsn) rs879254963
NM_000527.4(LDLR):c.1632_1633del (p.Gly546Profs) rs1060499926
NM_000527.4(LDLR):c.1632del (p.Gly546Alafs) rs879254964
NM_000527.4(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.4(LDLR):c.1633G>C (p.Gly545Arg) rs879254965
NM_000527.4(LDLR):c.1637G>A (p.Gly546Asp) rs28942081
NM_000527.4(LDLR):c.1640_1652delTGAATGGTGTGGAinsAGCGTCATCTTCCTGAC (p.Leu547Glnfs) rs879254967
NM_000527.4(LDLR):c.1644_1645insC (p.Gly549Argfs) rs879254969
NM_000527.4(LDLR):c.1645_1646insC (p.Gly549Alafs) rs879254971
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1646G>T (p.Gly549Val) rs28941776
NM_000527.4(LDLR):c.1651delG (p.Asp551Thrfs) rs879254973
NM_000527.4(LDLR):c.1655delT (p.Ile552Thrfs) rs879254972
NM_000527.4(LDLR):c.1658A>G (p.Tyr553Cys) rs879254974
NM_000527.4(LDLR):c.1658_1660delACT (p.Tyr553del) rs1555806019
NM_000527.4(LDLR):c.1659_1661delCTCinsATACTTTCA (p.Tyr553_Ala860del) rs879254975
NM_000527.4(LDLR):c.1661C>A (p.Ser554Ter) rs879254976
NM_000527.4(LDLR):c.1662_1669dup (p.Thr557Serfs) rs879254977
NM_000527.4(LDLR):c.166T>C (p.Ser56Pro) rs878854026
NM_000527.4(LDLR):c.1671_1672delTG (p.Glu558Lysfs) rs879254979
NM_000527.4(LDLR):c.1672G>T (p.Glu558Ter) rs879254980
NM_000527.4(LDLR):c.1673_1676del (p.Glu558Alafs) rs1135402777
NM_000527.4(LDLR):c.1678A>T (p.Ile560Phe) rs1131692213
NM_000527.4(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.4(LDLR):c.1683del (p.Gln561Hisfs) rs879254982
NM_000527.4(LDLR):c.1684_1686dup (p.Trp562_Pro563insTrp) rs879254983
NM_000527.4(LDLR):c.1685G>A (p.Trp562Ter) rs875989925
NM_000527.4(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.4(LDLR):c.1686_1693delGCCCAATGinsT (p.Trp562Cysfs) rs879254984
NM_000527.4(LDLR):c.1688C>A (p.Pro563His) rs879254987
NM_000527.4(LDLR):c.1689dup (p.Asn564Glnfs) rs879254988
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.4(LDLR):c.1691A>G (p.Asn564Ser) rs758194385
NM_000527.4(LDLR):c.1693_1696delGGCA (p.Gly565Serfs) rs1555806088
NM_000527.4(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.4(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.4(LDLR):c.1698_1704delCACCCTAinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) rs879254989
NM_000527.4(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.4(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.4(LDLR):c.1702_1705dup (p.Asp569Alafs) rs879254990
NM_000527.4(LDLR):c.1703T>C (p.Leu568Pro) rs879254991
NM_000527.4(LDLR):c.1705+1G>A rs875989926
NM_000527.4(LDLR):c.1705+1G>C rs875989926
NM_000527.4(LDLR):c.1705+1G>T rs875989926
NM_000527.4(LDLR):c.1705+1del (p.Asp569Ilefs) rs879254992
NM_000527.4(LDLR):c.1705+2T>C rs1555806110
NM_000527.4(LDLR):c.1705+2_1705+3insC rs879254994
NM_000527.4(LDLR):c.1706-1G>A rs879254996
NM_000527.4(LDLR):c.1706-1G>T rs879254996
NM_000527.4(LDLR):c.1706-2A>C rs878854027
NM_000527.4(LDLR):c.1706-2A>T rs878854027
NM_000527.4(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.4(LDLR):c.1715_1719delGTGGCinsA (p.Ser572Asnfs) rs875989927
NM_000527.4(LDLR):c.1718del (p.Gly573Alafs) rs879254998
NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.4(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.4(LDLR):c.172G>T (p.Glu58Ter) rs879254423
NM_000527.4(LDLR):c.172delG (p.Glu58Serfs) rs879254422
NM_000527.4(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.4(LDLR):c.1730G>C (p.Trp577Ser) rs138947766
NM_000527.4(LDLR):c.1731G>A (p.Trp577Ter) rs875989928
NM_000527.4(LDLR):c.1731G>C (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1733T>C (p.Val578Ala) rs72658864
NM_000527.4(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.4(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.4(LDLR):c.1736_1737delACinsT (p.Asp579Valfs) rs1131692214
NM_000527.4(LDLR):c.1737del (p.Ser580Profs) rs879255005
NM_000527.4(LDLR):c.1738_1739insTGT (p.Asp579_Ser580insLeu) rs1131692215
NM_000527.4(LDLR):c.1741A>T (p.Lys581Ter) rs1060499927
NM_000527.4(LDLR):c.1743A>T (p.Lys581Asn) rs1555806428
NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.4(LDLR):c.1744_1745insA (p.Leu582Hisfs) rs1131692217
NM_000527.4(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.4(LDLR):c.1745_1746delTT (p.Leu582Profs) rs879255006
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1749_1753del (p.Ser584Leufs) rs879255008
NM_000527.4(LDLR):c.1752del (p.Ile585Serfs) rs879255011
NM_000527.4(LDLR):c.1753del (p.Ile585Serfs) rs1555806448
NM_000527.4(LDLR):c.1754T>A (p.Ile585Asn) rs879255012
NM_000527.4(LDLR):c.1756del (p.Ser586Glnfs) rs879255013
NM_000527.4(LDLR):c.1757C>A (p.Ser586Ter) rs1555806455
NM_000527.4(LDLR):c.1757C>G (p.Ser586Ter) rs1555806455
NM_000527.4(LDLR):c.1759del (p.Ser587Alafs) rs879255014
NM_000527.4(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1766_1767delAT (p.Asp589Glyfs) rs879255015
NM_000527.4(LDLR):c.1766delA (p.Asp589Valfs) rs879255016
NM_000527.4(LDLR):c.1769_1774del (p.Val590_Asn591del) rs1555806467
NM_000527.4(LDLR):c.1773_1774delCGinsT (p.Gly593Alafs) rs1057519676
NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1778del (p.Gly593Alafs) rs875989931
NM_000527.4(LDLR):c.1778dup (p.Asn594Glnfs) rs875989931
NM_000527.4(LDLR):c.1779delC (p.Asn594Thrfs) rs879255019
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1784G>T (p.Arg595Leu) rs201102492
NM_000527.4(LDLR):c.1784_1790delGGAAGAC (p.Arg595Profs) rs879255020
NM_000527.4(LDLR):c.1786A>T (p.Lys596Ter) rs879255021
NM_000527.4(LDLR):c.1789del (p.Thr597Profs) rs879255022
NM_000527.4(LDLR):c.178C>T (p.Gln60Ter) rs794728585
NM_000527.4(LDLR):c.178del (p.Gln60Argfs) rs1555802312
NM_000527.4(LDLR):c.1792A>C (p.Ile598Leu) rs879255023
NM_000527.4(LDLR):c.1793T>A (p.Ile598Asn) rs879255024
NM_000527.4(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.4(LDLR):c.1798G>T (p.Glu600Ter) rs879255026
NM_000527.4(LDLR):c.1802dup (p.Asp601Glufs) rs879255028
NM_000527.4(LDLR):c.1804G>T (p.Glu602Ter) rs1135402778
NM_000527.4(LDLR):c.1807A>T (p.Lys603Ter) rs879255029
NM_000527.4(LDLR):c.1811delGinsCT (p.Arg604Thrfs) rs1555806529
NM_000527.4(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.4(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.4(LDLR):c.1815_1825del (p.Ala606Leufs) rs879255032
NM_000527.4(LDLR):c.1817C>A (p.Ala606Asp) rs1410295777
NM_000527.4(LDLR):c.1820A>G (p.His607Arg) rs879255033
NM_000527.4(LDLR):c.1823C>T (p.Pro608Leu) rs879255035
NM_000527.4(LDLR):c.1825T>C (p.Phe609Leu) rs879255036
NM_000527.4(LDLR):c.1829C>G (p.Ser610Cys) rs879255038
NM_000527.4(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.4(LDLR):c.1829_1831del (p.Ser610del) rs879255037
NM_000527.4(LDLR):c.1829_1840dup (p.Val613_Phe614insSerLeuAlaVal) rs1555806546
NM_000527.4(LDLR):c.1832dup (p.Leu611Phefs) rs879255039
NM_000527.4(LDLR):c.1833G>C (p.Leu611Phe) rs879255041
NM_000527.4(LDLR):c.1835C>T (p.Ala612Val) rs377449975
NM_000527.4(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1837G>A (p.Val613Ile) rs148181903
NM_000527.4(LDLR):c.1841_1842delTT (p.Phe614Terfs) rs879255044
NM_000527.4(LDLR):c.1842_1845+2del rs1555806582
NM_000527.4(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.4(LDLR):c.1845+11C>G rs370245937
NM_000527.4(LDLR):c.1845+15C>A rs759867686
NM_000527.4(LDLR):c.1845+1G>A rs879255049
NM_000527.4(LDLR):c.1845+1G>C rs879255049
NM_000527.4(LDLR):c.1845+1G>T rs879255049
NM_000527.4(LDLR):c.1845+1del rs879255048
NM_000527.4(LDLR):c.1845+2T>A rs778408161
NM_000527.4(LDLR):c.1845+2T>C rs778408161
NM_000527.4(LDLR):c.1846-1G>A rs879255051
NM_000527.4(LDLR):c.1846-2179_2140+2154del
NM_000527.4(LDLR):c.1846-?_2140+?dup
NM_000527.4(LDLR):c.1846-?_2311+?del
NM_000527.4(LDLR):c.1846_1865del (p.Asp616Tyrfs) rs1131692219
NM_000527.4(LDLR):c.1851delA (p.Val618Tyrfs)
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.4(LDLR):c.1853_1864del (p.Val618_Thr621del) rs879255052
NM_000527.4(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.4(LDLR):c.1855_1856insA (p.Phe619Tyrfs) rs879255053
NM_000527.4(LDLR):c.1856T>C (p.Phe619Ser) rs879255054
NM_000527.4(LDLR):c.1856T>G (p.Phe619Cys) rs879255054
NM_000527.4(LDLR):c.1859G>A (p.Trp620Ter) rs879255056
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.185_186insT (p.Cys63Valfs) rs879254425
NM_000527.4(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.4(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.4(LDLR):c.1860dup (p.Thr621Aspfs) rs879255057
NM_000527.4(LDLR):c.1862C>G (p.Thr621Arg) rs879255058
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1867_1868del (p.Ile623Hisfs) rs879255061
NM_000527.4(LDLR):c.1868T>C (p.Ile623Thr) rs141155833
NM_000527.4(LDLR):c.1871_1873del (p.Ile624del) rs879255062
NM_000527.4(LDLR):c.1872delC (p.Asn625Thrfs) rs879255063
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1876delG (p.Glu626Lysfs) rs879255065
NM_000527.4(LDLR):c.1878delA (p.E626Efs*38) rs1057516134
NM_000527.4(LDLR):c.1880C>A (p.Ala627Asp) rs875989934
NM_000527.4(LDLR):c.1885_1886insA (p.Phe629Tyrfs) rs1135402779
NM_000527.4(LDLR):c.1886delT (p.Phe629Serfs) rs879255068
NM_000527.4(LDLR):c.188G>T (p.Cys63Phe) rs879254427
NM_000527.4(LDLR):c.1891_2311+1062del (p.(?))
NM_000527.4(LDLR):c.1892C>A (p.Ala631Asp) rs879255070
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.4(LDLR):c.1898G>T (p.Arg633Leu) rs754536745
NM_000527.4(LDLR):c.190+2_190+3dup rs879254429
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.190+5G>A rs1131692190
NM_000527.4(LDLR):c.191-1G>A rs879254433
NM_000527.4(LDLR):c.191-1G>T rs879254433
NM_000527.4(LDLR):c.191-2A>G rs544203837
NM_000527.4(LDLR):c.191-2delinsCT rs879254432
NM_000527.4(LDLR):c.191-?_1186+?dup
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.4(LDLR):c.191T>A (p.Leu64Ter) rs774016801
NM_000527.4(LDLR):c.1934dup (p.Asn645Lysfs) rs879255076
NM_000527.4(LDLR):c.1935_1936insA (p.Leu646Thrfs) rs879255077
NM_000527.4(LDLR):c.1936del (p.Leu646Tyrfs) rs879255078
NM_000527.4(LDLR):c.1937T>A (p.Leu646Gln) rs1555807261
NM_000527.4(LDLR):c.193_201delTCTGTCACCinsGACTTCA (p.Ser65Aspfs) rs879254434
NM_000527.4(LDLR):c.1943C>T (p.Ser648Phe) rs1555807266
NM_000527.4(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.4(LDLR):c.1946delC (p.Pro649Glnfs) rs879255082
NM_000527.4(LDLR):c.1946dup (p.Glu650Argfs) rs879255082
NM_000527.4(LDLR):c.1948_1952dup (p.Asp651Glufs) rs1555807275
NM_000527.4(LDLR):c.1954A>G (p.Met652Val) rs730882111
NM_000527.4(LDLR):c.1954_1955delAT (p.Met652Glyfs) rs875989935
NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.4(LDLR):c.195_196insA (p.Val66Serfs) rs1555802710
NM_000527.4(LDLR):c.195_196insAT (p.Val66Metfs) rs879254435
NM_000527.4(LDLR):c.195dup (p.Val66Cysfs) rs879254435
NM_000527.4(LDLR):c.1961_1965dup (p.His656Serfs) rs879255088
NM_000527.4(LDLR):c.1964delT (p.Phe655Serfs) rs879255089
NM_000527.4(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.196_197delGT (p.Val66Hisfs) rs875989889
NM_000527.4(LDLR):c.1975_1987+16del rs879255093
NM_000527.4(LDLR):c.1976C>A (p.Thr659Asn) rs879255094
NM_000527.4(LDLR):c.1978C>A (p.Gln660Lys) rs193922569
NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.4(LDLR):c.1980_1983del (p.Pro661Glufs) rs1057519679
NM_000527.4(LDLR):c.1986_1987delAGinsC (p.Arg662Serfs) rs879255096
NM_000527.4(LDLR):c.1987delG (p.Gly663Glufs) rs879255097
NM_000527.4(LDLR):c.1988-1G>A rs1555807335
NM_000527.4(LDLR):c.1988-1G>C rs1555807335
NM_000527.4(LDLR):c.1988-2A>G rs879255101
NM_000527.4(LDLR):c.1988-2A>T rs879255101
NM_000527.4(LDLR):c.1988-52_2006del rs1555807306
NM_000527.4(LDLR):c.1988G>C (p.Gly663Ala) rs879255102
NM_000527.4(LDLR):c.1996_2012del (p.Trp666Profs) rs879255104
NM_000527.4(LDLR):c.1997G>A (p.Trp666Ter) rs879255105
NM_000527.4(LDLR):c.1998G>A (p.Trp666Ter) rs752935814
NM_000527.4(LDLR):c.1998delG (p.Trp666Cysfs) rs879255106
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.199dup (p.Thr67Asnfs) rs879254436
NM_000527.4(LDLR):c.1A>C (p.Met1Leu) rs879254382
NM_000527.4(LDLR):c.1A>G (p.Met1Val) rs879254382
NM_000527.4(LDLR):c.1A>T (p.Met1Leu) rs879254382
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2000delG (p.Cys667Leufs) rs879255107
NM_000527.4(LDLR):c.2001T>A (p.Cys667Ter) rs879255109
NM_000527.4(LDLR):c.2001T>G (p.Cys667Trp) rs879255109
NM_000527.4(LDLR):c.2001_2007delTGAGAGG (p.Cys667Terfs) rs879255108
NM_000527.4(LDLR):c.2001delT (p.Cys667Trpfs) rs1060500988
NM_000527.4(LDLR):c.2011del (p.Thr671Profs) rs1555807356
NM_000527.4(LDLR):c.2013_2014delCC (p.Leu672Glufs) rs879255110
NM_000527.4(LDLR):c.2014delC (p.Leu672Terfs) rs879255110
NM_000527.4(LDLR):c.2015del (p.Leu672Argfs) rs879255112
NM_000527.4(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.4(LDLR):c.2026G>C (p.Gly676Arg) rs745753810
NM_000527.4(LDLR):c.2026G>T (p.Gly676Cys) rs745753810
NM_000527.4(LDLR):c.2027delG (p.Gly676Alafs) rs875989937
NM_000527.4(LDLR):c.2029T>C (p.Cys677Arg) rs775092314
NM_000527.4(LDLR):c.2030G>T (p.Cys677Phe) rs875989938
NM_000527.4(LDLR):c.2030_2042del (p.Cys677Serfs) rs879255113
NM_000527.4(LDLR):c.2032C>T (p.Gln678Ter) rs879255114
NM_000527.4(LDLR):c.2033_2044del (p.Gln678_Cys681del) rs879255115
NM_000527.4(LDLR):c.2035dup (p.Tyr679Leufs) rs879255116
NM_000527.4(LDLR):c.2036dup (p.Tyr679Terfs) rs879255117
NM_000527.4(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.4(LDLR):c.2039T>C (p.Leu680Pro) rs1555807379
NM_000527.4(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2044C>T (p.Leu682Phe) rs1131692220
NM_000527.4(LDLR):c.2046_2049delCCCT (p.Ala684Argfs) rs879255120
NM_000527.4(LDLR):c.204C>A (p.Cys68Ter) rs879254437
NM_000527.4(LDLR):c.2050G>A (p.Ala684Thr) rs774730452
NM_000527.4(LDLR):c.2050_2063del (p.Ala684Profs) rs879255121
NM_000527.4(LDLR):c.2050_2063delGCCCCGCAGATCAAinsC (p.Ala684Profs) rs1555807390
NM_000527.4(LDLR):c.2050del (p.Ala684Profs) rs1555807388
NM_000527.4(LDLR):c.2053C>A (p.Pro685Thr) rs2569548
NM_000527.4(LDLR):c.2053C>T (p.Pro685Ser) rs2569548
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2054delC (p.Pro685Argfs) rs879255122
NM_000527.4(LDLR):c.2055_2067delGCAGATCAACCCC (p.Gln686Thrfs) rs879255123
NM_000527.4(LDLR):c.2055delG (p.Gln686Argfs) rs879255124
NM_000527.4(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.4(LDLR):c.2056_2068delCAGATCAACCCCC (p.Gln686Thrfs) rs879255125
NM_000527.4(LDLR):c.2060del (p.Ile687Thrfs) rs879255127
NM_000527.4(LDLR):c.2060dup (p.Asn688Glnfs) rs751228587
NM_000527.4(LDLR):c.2061del (p.Asn688Thrfs) rs1131692221
NM_000527.4(LDLR):c.2061dupC (p.Asn688Glnfs) rs137853965
NM_000527.4(LDLR):c.2062_2063insC (p.Asn688Thrfs) rs1555807421
NM_000527.4(LDLR):c.2063del (p.Asn688Thrfs) rs879255128
NM_000527.4(LDLR):c.2063dup (p.Asn688Lysfs) rs879255128
NM_000527.4(LDLR):c.2068C>G (p.His690Asp) rs757009067
NM_000527.4(LDLR):c.2068del (p.His690Thrfs) rs879255130
NM_000527.4(LDLR):c.2068dup (p.His690Profs) rs879255130
NM_000527.4(LDLR):c.2072C>A (p.Ser691Ter) rs369943481
NM_000527.4(LDLR):c.2077_2078del (p.Lys693Valfs) rs879255131
NM_000527.4(LDLR):c.2078dup (p.Phe694Valfs) rs1057519682
NM_000527.4(LDLR):c.2085_2103del (p.Ala697Cysfs) rs879255133
NM_000527.4(LDLR):c.2085del (p.Cys696Alafs) rs1057519683
NM_000527.4(LDLR):c.2087G>A (p.Cys696Tyr) rs879255134
NM_000527.4(LDLR):c.2088C>A (p.Cys696Ter) rs112954220
NM_000527.4(LDLR):c.2089G>A (p.Ala697Thr) rs776217028
NM_000527.4(LDLR):c.2092del (p.Cys698Alafs) rs879255135
NM_000527.4(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2096delC (p.Pro699Argfs) rs879255138
NM_000527.4(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2108_2111dup (p.Arg706Glyfs) rs879255140
NM_000527.4(LDLR):c.2108_2114dup (p.Arg706Alafs) rs879255141
NM_000527.4(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.4(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.4(LDLR):c.2116_2117insC (p.Arg706Thrfs) rs1555807465
NM_000527.4(LDLR):c.211G>A (p.Gly71Arg) rs766903209
NM_000527.4(LDLR):c.2131T>A (p.Cys711Ser) rs879255144
NM_000527.4(LDLR):c.2131T>G (p.Cys711Gly) rs879255144
NM_000527.4(LDLR):c.2132G>A (p.Cys711Tyr) rs879255145
NM_000527.4(LDLR):c.2132G>T (p.Cys711Phe) rs879255145
NM_000527.4(LDLR):c.2133C>A (p.Cys711Ter) rs879255146
NM_000527.4(LDLR):c.2134dup (p.Leu712Profs) rs1057519685
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2140+1_2140+12del rs1555807475
NM_000527.4(LDLR):c.2140+2T>C rs879255147
NM_000527.4(LDLR):c.2140+86C>G rs587776886
NM_000527.4(LDLR):c.2140G>C (p.Glu714Gln) rs869320652
NM_000527.4(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_000527.4(LDLR):c.2141-2A>G rs1135402780
NM_000527.4(LDLR):c.2141-?_(2583_?)del
NM_000527.4(LDLR):c.2141-?_2311+?del
NM_000527.4(LDLR):c.2141-?_2389+?del
NM_000527.4(LDLR):c.2141_2311del171 (p.Glu714_Gln770del) rs1555808008
NM_000527.4(LDLR):c.214delG (p.Asp72Thrfs) rs879254438
NM_000527.4(LDLR):c.2164C>T (p.Gln722Ter) rs879255152
NM_000527.4(LDLR):c.2167G>T (p.E723*) rs1057516127
NM_000527.4(LDLR):c.2167delG (p.Glu723Argfs) rs879255153
NM_000527.4(LDLR):c.2175delC (p.Thr726Profs) rs879255155
NM_000527.4(LDLR):c.2178del (p.Val727Serfs) rs879255156
NM_000527.4(LDLR):c.2180_2184dupTCAGG (p.Leu729Serfs) rs1555808044
NM_000527.4(LDLR):c.2184del (p.Arg728Serfs) rs879255157
NM_000527.4(LDLR):c.2186dup (p.Val731Glyfs) rs879255158
NM_000527.4(LDLR):c.2187_2197delAAAGGTCAGCT (p.Lys730Hisfs) rs879255159
NM_000527.4(LDLR):c.2191_2203dup (p.Ala735Glyfs) rs879255160
NM_000527.4(LDLR):c.2191delG (p.Val731Serfs) rs879255161
NM_000527.4(LDLR):c.2201_2202del (p.Thr734Serfs) rs879255163
NM_000527.4(LDLR):c.2206G>A (p.Val736Ile) rs547268730
NM_000527.4(LDLR):c.2207dup (p.Arg737Lysfs) rs879255164
NM_000527.4(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.4(LDLR):c.2226delC (p.Thr743Profs) rs879255166
NM_000527.4(LDLR):c.2230C>T (p.Arg744Ter) rs200793488
NM_000527.4(LDLR):c.2230delC (p.Arg744Aspfs) rs879255167
NM_000527.4(LDLR):c.223T>A (p.Cys75Ser) rs879254439
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.4(LDLR):c.2251del (p.Arg751Glyfs) rs1555808107
NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.4(LDLR):c.2253G>A (p.Arg751=) rs1555808114
NM_000527.4(LDLR):c.2253_2256dupGCTG (p.Pro753Alafs) rs1555808111
NM_000527.4(LDLR):c.2259dup (p.Gly754Trpfs) rs1555808118
NM_000527.4(LDLR):c.2263del (p.Ala755Profs) rs1555808120
NM_000527.4(LDLR):c.2264_2273delCCACCCCTGG (p.Ala755Glyfs) rs879255168
NM_000527.4(LDLR):c.2266del (p.Thr756Profs) rs879255169
NM_000527.4(LDLR):c.2270del (p.Pro757Leufs) rs1131692223
NM_000527.4(LDLR):c.2271delT (p.Leu759Serfs) rs875989940
NM_000527.4(LDLR):c.2274del (p.Leu759Serfs) rs1555808139
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2282_2309del (p.Thr761Lysfs) rs1555808143
NM_000527.4(LDLR):c.2292delA (p.Ile764Metfs) rs875989941
NM_000527.4(LDLR):c.2295_2302del (p.Thr766Serfs) rs1057519687
NM_000527.4(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.4(LDLR):c.2297_2298delCA (p.Thr766Asnfs) rs879255172
NM_000527.4(LDLR):c.2299delA (p.Met767Cysfs) rs879255174
NM_000527.4(LDLR):c.2308C>T (p.Gln770Ter) rs763625913
NM_000527.4(LDLR):c.230delG (p.Gly77Alafs) rs879254440
NM_000527.4(LDLR):c.230dup (p.Arg78Profs) rs879254440
NM_000527.4(LDLR):c.2311+1941_*1216dup
NM_000527.4(LDLR):c.2311+1G>A rs879255175
NM_000527.4(LDLR):c.2311+1G>T rs879255175
NM_000527.4(LDLR):c.2311+2T>G rs879255176
NM_000527.4(LDLR):c.2312-3C>A rs875989942
NM_000527.4(LDLR):c.2312-3C>T rs875989942
NM_000527.4(LDLR):c.2312-?_*2514del
NM_000527.4(LDLR):c.2312-?_2389+?del
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.2317_2318insTA (p.Gly773Valfs) rs879255177
NM_000527.4(LDLR):c.2318delG (p.Gly773Alafs) rs879255178
NM_000527.4(LDLR):c.2323_2352del (p.Val775_Pro784del) rs1131692224
NM_000527.4(LDLR):c.232C>T (p.Arg78Cys) rs370860696
NM_000527.4(LDLR):c.232del (p.Arg78Valfs) rs879254442
NM_000527.4(LDLR):c.2333_2334insC (p.Arg778Serfs) rs879255180
NM_000527.4(LDLR):c.2343_2347delGAAGA (p.Lys782Alafs) rs879255181
NM_000527.4(LDLR):c.2344A>T (p.Lys782Ter) rs875989943
NM_000527.4(LDLR):c.2368_2369dup (p.Ser791Cysfs) rs1135402784
NM_000527.4(LDLR):c.236dup (p.Asn80Glnfs) rs879254443
NM_000527.4(LDLR):c.2376del (p.Ile792Metfs) rs1135402785
NM_000527.4(LDLR):c.2385del (p.Ile796Serfs) rs879255185
NM_000527.4(LDLR):c.2389+1G>T rs879255186
NM_000527.4(LDLR):c.2389+5G>A rs879255191
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.4(LDLR):c.2390-1G>A rs879255193
NM_000527.4(LDLR):c.2390-1G>C rs879255193
NM_000527.4(LDLR):c.2390-2A>G rs767790696
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.2393_2409del (p.Leu798Profs) rs1131692225
NM_000527.4(LDLR):c.2394_2401del (p.Leu799Profs) rs1555809471
NM_000527.4(LDLR):c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.2397_2412del16 (p.Val800Glyfs) rs879255197
NM_000527.4(LDLR):c.2399_2403delTCTTCinsGGGT (p.Val800Glyfs) rs879255198
NM_000527.4(LDLR):c.2402del (p.Phe801Serfs) rs1555809490
NM_000527.4(LDLR):c.2403_2406del (p.Leu802Alafs) rs879255200
NM_000527.4(LDLR):c.2407_2424dup (p.Leu808_Leu809insCysLeuGlyValPheLeu) rs879255201
NM_000527.4(LDLR):c.2408_2409dup (p.Leu804Alafs) rs879255202
NM_000527.4(LDLR):c.2411T>C (p.Leu804Pro) rs879255203
NM_000527.4(LDLR):c.2413G>C (p.Gly805Arg) rs879255204
NM_000527.4(LDLR):c.2416del (p.Val806Serfs) rs773618064
NM_000527.4(LDLR):c.2416dupG (p.Val806Glyfs) rs773618064
NM_000527.4(LDLR):c.2417_2418insG (p.Phe807Leufs) rs879255207
NM_000527.4(LDLR):c.2417_2418insGG (p.Phe807Alafs) rs879255207
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2420_2426delTCCTTCT (p.Phe807Tyrfs) rs879255209
NM_000527.4(LDLR):c.2422C>G (p.Leu808Val) rs1131692226
NM_000527.4(LDLR):c.2422_2425del (p.Leu808Tyrfs) rs1555809520
NM_000527.4(LDLR):c.242dup (p.Cys82Leufs) rs879254445
NM_000527.4(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.4(LDLR):c.2431A>T (p.Lys811Ter) rs879255211
NM_000527.4(LDLR):c.2438G>A (p.Trp813Ter) rs879255212
NM_000527.4(LDLR):c.2439G>A (p.Trp813Ter) rs121908032
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2446A>C (p.Lys816Gln) rs879255213
NM_000527.4(LDLR):c.2446A>T (p.Lys816Ter) rs879255213
NM_000527.4(LDLR):c.2447_2450dupAGAA (p.Asn817Lysfs) rs387906302
NM_000527.4(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294
NM_000527.4(LDLR):c.244_250dup (p.Pro84Leufs) rs1057519653
NM_000527.4(LDLR):c.244delT (p.Cys82Alafs) rs879254446
NM_000527.4(LDLR):c.245G>A (p.Cys82Tyr) rs879254448
NM_000527.4(LDLR):c.245G>T (p.Cys82Phe) rs879254448
NM_000527.4(LDLR):c.246C>A (p.Cys82Ter) rs875989891
NM_000527.4(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.4(LDLR):c.2476C>T (p.Pro826Ser) rs879255217
NM_000527.4(LDLR):c.2478delC (p.Val827Serfs) rs747344293
NM_000527.4(LDLR):c.2478dup (p.Val827Argfs) rs747344293
NM_000527.4(LDLR):c.2482dup (p.Tyr828Leufs) rs1057519690
NM_000527.4(LDLR):c.2483A>C (p.Tyr828Ser) rs28942085
NM_000527.4(LDLR):c.2483A>G (p.Tyr828Cys) rs28942085
NM_000527.4(LDLR):c.248T>C (p.Ile83Thr) rs1555802745
NM_000527.4(LDLR):c.2500_2502delGATinsC (p.Asp834Argfs) rs879255219
NM_000527.4(LDLR):c.2500del (p.Asp834Metfs) rs1555809594
NM_000527.4(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.4(LDLR):c.2509del (p.His837Thrfs) rs879255221
NM_000527.4(LDLR):c.250C>T (p.Pro84Ser) rs879254449
NM_000527.4(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.4(LDLR):c.251_252insCATTCTG (p.Gln85Ilefs) rs1131692191
NM_000527.4(LDLR):c.2530G>A (p.Gly844Ser) rs1555809614
NM_000527.4(LDLR):c.2531G>A (p.Gly844Asp) rs121908037
NM_000527.4(LDLR):c.253C>T (p.Gln85Ter) rs875989893
NM_000527.4(LDLR):c.2544dup (p.Ser849Leufs) rs879255222
NM_000527.4(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.4(LDLR):c.2546del (p.Ser849Terfs) rs879255223
NM_000527.4(LDLR):c.2547+1G>A rs879255224
NM_000527.4(LDLR):c.2547+5G>A rs879255226
NM_000527.4(LDLR):c.2552delA (p.Gln851Argfs) rs879255229
NM_000527.4(LDLR):c.259T>C (p.Trp87Arg) rs121908025
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.260G>A (p.Trp87Ter) rs879254452
NM_000527.4(LDLR):c.261G>A (p.Trp87Ter) rs199570811
NM_000527.4(LDLR):c.261_262delGAinsAG (p.Trp87Ter) rs879254453
NM_000527.4(LDLR):c.262A>G (p.Arg88Gly) rs200660051
NM_000527.4(LDLR):c.263G>A (p.Arg88Lys) rs1398808477
NM_000527.4(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.4(LDLR):c.266G>A (p.Cys89Tyr) rs875989894
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.269A>C (p.Asp90Ala) rs771019366
NM_000527.4(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.4(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.274C>T (p.Gln92Ter) rs774467219
NM_000527.4(LDLR):c.283T>C (p.Cys95Arg) rs879254456
NM_000527.4(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.4(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.4(LDLR):c.285C>A (p.Cys95Ter) rs139400379
NM_000527.4(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.4(LDLR):c.28_38delTGGACCGTCGC (p.Trp10Leufs) rs879254385
NM_000527.4(LDLR):c.292G>A (p.Gly98Ser) rs750474121
NM_000527.4(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.4(LDLR):c.296_297delCA (p.Ser99Terfs) rs879254458
NM_000527.4(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.4(LDLR):c.299A>G (p.Asp100Gly) rs879254460
NM_000527.4(LDLR):c.29G>A (p.Trp10Ter) rs1555800724
NM_000527.4(LDLR):c.300C>G (p.Asp100Glu) rs766709484
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.301G>T (p.Glu101Ter) rs144172724
NM_000527.4(LDLR):c.301delG (p.Glu101Serfs) rs879254461
NM_000527.4(LDLR):c.303delG (p.Glu101Aspfs) rs764797225
NM_000527.4(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.4(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.4(LDLR):c.310_313del (p.Cys104Profs) rs879254463
NM_000527.4(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.4(LDLR):c.311G>C (p.Cys104Ser) rs875989895
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+1G>C rs112029328
NM_000527.4(LDLR):c.313+1G>T rs112029328
NM_000527.4(LDLR):c.313+2T>A rs793888517
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.313+2dupT rs875989897
NM_000527.4(LDLR):c.313+4_313+16del rs1555802822
NM_000527.4(LDLR):c.313+5G>T rs879254467
NM_000527.4(LDLR):c.313_313+1delCG rs875989896
NM_000527.4(LDLR):c.314-1G>A rs879254471
NM_000527.4(LDLR):c.314-1G>T rs879254471
NM_000527.4(LDLR):c.314-2A>C rs879254470
NM_000527.4(LDLR):c.314-2A>T rs879254470
NM_000527.4(LDLR):c.314-3C>T rs879254469
NM_000527.4(LDLR):c.314-446_1187-386dup
NM_000527.4(LDLR):c.314-?_1060+?del
NM_000527.4(LDLR):c.314-?_694+?del
NM_000527.4(LDLR):c.314-?_940+?del
NM_000527.4(LDLR):c.318_336del (p.Lys107Serfs) rs1131692192
NM_000527.4(LDLR):c.318del (p.Lys107Argfs) rs875989898
NM_000527.4(LDLR):c.318dupC (p.Lys107Glnfs) rs875989898
NM_000527.4(LDLR):c.320_332del (p.Lys107Argfs) rs879254474
NM_000527.4(LDLR):c.320dup (p.Thr108Aspfs) rs879254475
NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.4(LDLR):c.325_337delTGCTCCCAGGACG (p.Cys109Serfs) rs879254477
NM_000527.4(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.4(LDLR):c.326G>C (p.Cys109Ser) rs121908042
NM_000527.4(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.4(LDLR):c.327C>A (p.Cys109Ter) rs1057519654
NM_000527.4(LDLR):c.327dup (p.Ser110Leufs) rs879254478
NM_000527.4(LDLR):c.335_344delACGAGTTTCG (p.Asp112Alafs) rs879254479
NM_000527.4(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.337dup (p.Glu113Glyfs) rs752191968
NM_000527.4(LDLR):c.338_353del (p.Glu113Valfs) rs879254480
NM_000527.4(LDLR):c.339dup (p.Phe114Valfs) rs879254481
NM_000527.4(LDLR):c.33_36dup (p.Ala13Argfs) rs879254387
NM_000527.4(LDLR):c.340_344delTTTCG (p.F114Lfs*13) rs1057516132
NM_000527.4(LDLR):c.343C>T (p.Arg115Cys) rs774723292
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.346T>C (p.Cys116Arg) rs879254482
NM_000527.4(LDLR):c.347_349del (p.Cys116_His117delinsTyr) rs879254483
NM_000527.4(LDLR):c.350_372dup (p.Gln125Thrfs) rs879254487
NM_000527.4(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.4(LDLR):c.353delA (p.Asp118Valfs) rs879254488
NM_000527.4(LDLR):c.356_362delGGAAGTG (p.Gly119Alafs) rs879254490
NM_000527.4(LDLR):c.357delG (p.Lys120Serfs) rs879254491
NM_000527.4(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.4(LDLR):c.363C>G (p.Cys121Trp) rs1555803191
NM_000527.4(LDLR):c.366dup (p.Ser123Leufs) rs879254494
NM_000527.4(LDLR):c.369_370delTC (p.Arg124Alafs) rs879254496
NM_000527.4(LDLR):c.369_393del (p.Arg124Glyfs) rs879254497
NM_000527.4(LDLR):c.370C>G (p.Arg124Gly) rs879254498
NM_000527.4(LDLR):c.371_372insC (p.Gln125Alafs) rs879254499
NM_000527.4(LDLR):c.373C>T (p.Gln125Ter) rs875989899
NM_000527.4(LDLR):c.374_375insCTGA (p.Gln125Hisfs) rs879254500
NM_000527.4(LDLR):c.377T>C (p.Phe126Ser) rs879254502
NM_000527.4(LDLR):c.378del (p.Phe126Leufs) rs1555803213
NM_000527.4(LDLR):c.379delG (p.Val127Serfs) rs878854028
NM_000527.4(LDLR):c.380T>G (p.Val127Gly) rs879254503
NM_000527.4(LDLR):c.382T>C (p.Cys128Arg) rs879254505
NM_000527.4(LDLR):c.382_385del (p.Cys128Thrfs) rs879254504
NM_000527.4(LDLR):c.383G>A (p.Cys128Tyr) rs879254506
NM_000527.4(LDLR):c.389C>G (p.Ser130Ter) rs879254509
NM_000527.4(LDLR):c.389dup (p.Asp131Argfs) rs879254510
NM_000527.4(LDLR):c.391G>C (p.Asp131His) rs879254511
NM_000527.4(LDLR):c.397dup (p.Asp133Glyfs) rs879254512
NM_000527.4(LDLR):c.3G>A (p.Met1Ile) rs879254383
NM_000527.4(LDLR):c.3G>T (p.Met1Ile) rs879254383
NM_000527.4(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.4(LDLR):c.400T>G (p.Cys134Gly) rs875989900
NM_000527.4(LDLR):c.409G>A (p.Gly137Ser) rs730882082
NM_000527.4(LDLR):c.413C>G (p.Ser138Ter) rs755799528
NM_000527.4(LDLR):c.415G>A (p.Asp139Asn) rs879254517
NM_000527.4(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.4(LDLR):c.416A>T (p.Asp139Val) rs879254518
NM_000527.4(LDLR):c.417C>A (p.Asp139Glu) rs537484504
NM_000527.4(LDLR):c.417C>G (p.Asp139Glu) rs537484504
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.418G>T (p.Glu140Ter) rs748944640
NM_000527.4(LDLR):c.419A>G (p.Glu140Gly) rs879254519
NM_000527.4(LDLR):c.41delT (p.Leu14Cysfs) rs879254388
NM_000527.4(LDLR):c.41dup (p.Leu14Phefs) rs879254388
NM_000527.4(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.4(LDLR):c.424_430del (p.Ser142Argfs) rs879254521
NM_000527.4(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.4(LDLR):c.427T>G (p.Cys143Gly) rs875989901
NM_000527.4(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.4(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.4(LDLR):c.429C>A (p.Cys143Ter) rs199774121
NM_000527.4(LDLR):c.431C>T (p.Pro144Leu) rs912448894
NM_000527.4(LDLR):c.431_434dup (p.Leu146Glyfs) rs879254523
NM_000527.4(LDLR):c.440_450dup (p.Ala151Profs) rs1555803254
NM_000527.4(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.4(LDLR):c.442_504del63insA (p.Cys148Lysfs) rs1555803259
NM_000527.4(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.4(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.4(LDLR):c.445G>C (p.Gly149Arg) rs879254529
NM_000527.4(LDLR):c.450dup (p.Ala151Argfs) rs879254530
NM_000527.4(LDLR):c.451G>A (p.Ala151Thr) rs763233960
NM_000527.4(LDLR):c.451G>C (p.Ala151Pro) rs763233960
NM_000527.4(LDLR):c.458T>G (p.Phe153Cys) rs879254533
NM_000527.4(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.4(LDLR):c.463T>C (p.Cys155Arg) rs879254535
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.464G>A (p.Cys155Tyr) rs879254536
NM_000527.4(LDLR):c.464G>T (p.Cys155Phe) rs879254536
NM_000527.4(LDLR):c.465C>A (p.Cys155Ter) rs766094434
NM_000527.4(LDLR):c.466_484dup (p.Pro162Glnfs) rs879254537
NM_000527.4(LDLR):c.467delA (p.N156Tfs*49) rs1057516135
NM_000527.4(LDLR):c.472delT (p.Ser158Profs) rs879254538
NM_000527.4(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.4(LDLR):c.482T>C (p.Ile161Thr) rs754933794
NM_000527.4(LDLR):c.482_488del (p.Ile161Serfs) rs879254542
NM_000527.4(LDLR):c.487C>T (p.Gln163Ter) rs1135402768
NM_000527.4(LDLR):c.495G>A (p.Trp165Ter) rs879254546
NM_000527.4(LDLR):c.499T>C (p.Cys167Arg) rs879254547
NM_000527.4(LDLR):c.4G>A (p.Gly2Arg) rs5931
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.501C>G (p.Cys167Trp) rs752596535
NM_000527.4(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.4(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.4(LDLR):c.508G>A (p.Asp170Asn) rs139089530
NM_000527.4(LDLR):c.508_509insC (p.Asp170Alafs) rs879254551
NM_000527.4(LDLR):c.513delC (p.Asp172Thrfs) rs879254552
NM_000527.4(LDLR):c.513dup (p.Asp172Argfs) rs879254552
NM_000527.4(LDLR):c.514G>A (p.Asp172Asn) rs879254554
NM_000527.4(LDLR):c.514G>T (p.Asp172Tyr) rs879254554
NM_000527.4(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.4(LDLR):c.518G>A (p.Cys173Tyr) rs879254560
NM_000527.4(LDLR):c.518del (p.Cys173Serfs) rs879254559
NM_000527.4(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.4(LDLR):c.519_532del (p.Cys173Terfs) rs1131692193
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.4(LDLR):c.526_533dup (p.Asp178Glufs) rs879254562
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.532G>C (p.Asp178His) rs879254565
NM_000527.4(LDLR):c.532_533insT (p.Asp178Valfs) rs879254564
NM_000527.4(LDLR):c.532del (p.Asp178Metfs) rs1555803327
NM_000527.4(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.4(LDLR):c.533A>T (p.Asp178Val) rs875989902
NM_000527.4(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.4(LDLR):c.535G>T (p.Glu179Ter) rs879254567
NM_000527.4(LDLR):c.535_536insGCTCGGAG (p.Glu179Glyfs) rs1555803337
NM_000527.4(LDLR):c.539G>A (p.Trp180Ter) rs879254569
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.542C>T (p.Pro181Leu) rs557344672
NM_000527.4(LDLR):c.544C>T (p.Gln182Ter) rs879254570
NM_000527.4(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.551G>C (p.Cys184Ser) rs121908039
NM_000527.4(LDLR):c.554delG (p.Gly186Valfs) rs879254573
NM_000527.4(LDLR):c.557dup (p.Leu187Serfs) rs879254573
NM_000527.4(LDLR):c.558_559insG (p.Leu187Alafs) rs879254574
NM_000527.4(LDLR):c.561_562delTT (p.Tyr188Argfs) rs879254575
NM_000527.4(LDLR):c.562delT (p.Tyr188Thrfs) rs879254575
NM_000527.4(LDLR):c.564C>A (p.Tyr188Ter) rs121908034
NM_000527.4(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.4(LDLR):c.565_568delGTGTinsTG (p.Val189Cysfs) rs1131692195
NM_000527.4(LDLR):c.565del (p.Val189Cysfs) rs1555803354
NM_000527.4(LDLR):c.568_590del23 (p.Phe190Leufs) rs879254577
NM_000527.4(LDLR):c.571C>T (p.Gln191Ter) rs879254578
NM_000527.4(LDLR):c.578_584delACAGTAG (p.Asp193Alafs) rs879254579
NM_000527.4(LDLR):c.578delA (p.Asp193Alafs) rs879254580
NM_000527.4(LDLR):c.581_582insA (p.Ser194Argfs) rs879254581
NM_000527.4(LDLR):c.583_589delAGCCCCT (p.Ser195Alafs) rs879254582
NM_000527.4(LDLR):c.586C>A (p.Pro196Thr) rs1013147010
NM_000527.4(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.4(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.4(LDLR):c.591C>A (p.Cys197Ter) rs879254584
NM_000527.4(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.4(LDLR):c.593C>A (p.Ser198Ter) rs748672083
NM_000527.4(LDLR):c.600delC (p.Phe200Leufs) rs879254588
NM_000527.4(LDLR):c.609del (p.Cys204Alafs) rs879254591
NM_000527.4(LDLR):c.611G>C (p.Cys204Ser) rs879254592
NM_000527.4(LDLR):c.612C>A (p.Cys204Ter) rs1555803383
NM_000527.4(LDLR):c.616dup (p.Ser206Lysfs) rs879254593
NM_000527.4(LDLR):c.617del (p.Ser206Metfs) rs879254594
NM_000527.4(LDLR):c.618_638del (p.Gly207_Ser213del) rs886039830
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.4(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.4(LDLR):c.623_644del22 (p.Glu208Alafs) rs879254598
NM_000527.4(LDLR):c.625_626dupTG (p.Ile210Alafs) rs879254599
NM_000527.4(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.4(LDLR):c.628A>C (p.Ile210Leu) rs1555803391
NM_000527.4(LDLR):c.631C>G (p.His211Asp) rs771917370
NM_000527.4(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.642G>A (p.Trp214Ter) rs879254606
NM_000527.4(LDLR):c.643C>T (p.Arg215Cys) rs764042910
NM_000527.4(LDLR):c.644G>A (p.Arg215His) rs753319170
NM_000527.4(LDLR):c.645_646del (p.Cys216Terfs) rs879254608
NM_000527.4(LDLR):c.646del (p.Cys216Valfs) rs879254609
NM_000527.4(LDLR):c.648_649del (p.Cys216Terfs) rs879254612
NM_000527.4(LDLR):c.648dupT (p.Asp217Terfs) rs875989903
NM_000527.4(LDLR):c.649_650insT (p.Asp217Valfs) rs879254614
NM_000527.4(LDLR):c.64delG (p.Ala22Glnfs) rs879254393
NM_000527.4(LDLR):c.651_687del37 (p.Asp217Glufs) rs879254615
NM_000527.4(LDLR):c.653delG (p.Gly218Valfs) rs137853966
NM_000527.4(LDLR):c.654_656delTGG (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.657_661dup (p.Asp221Alafs) rs879254358
NM_000527.4(LDLR):c.658_663del (p.Pro220_Asp221del) rs1555803409
NM_000527.4(LDLR):c.660delC (p.Asp221Thrfs) rs875989905
NM_000527.4(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.4(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.4(LDLR):c.661_673dup (p.Lys225Argfs) rs1555803428
NM_000527.4(LDLR):c.661_677del17 (p.Asp221Terfs) rs879254619
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.662_681dup (p.Glu228Thrfs) rs1555803432
NM_000527.4(LDLR):c.663_683dup21 (p.Asp227_Glu228insAspCysLysAspLysSerAsp) rs879254620
NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.664_681del18insCCGACTG (p.Cys222Profs) rs879254622
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.4(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.4(LDLR):c.666C>A (p.Cys222Ter) rs756613387
NM_000527.4(LDLR):c.666C>T (p.Cys222=) rs756613387
NM_000527.4(LDLR):c.666_682dup (p.Glu228Alafs) rs1057519662
NM_000527.4(LDLR):c.666_687del (p.Cys222Terfs) rs879254623
NM_000527.4(LDLR):c.666_688del (p.Cys222Terfs) rs1131692197
NM_000527.4(LDLR):c.668_681dup (p.Glu228Argfs) rs1555803424
NM_000527.4(LDLR):c.669_676del (p.Lys223Asnfs) rs1555803449
NM_000527.4(LDLR):c.669_679dup (p.Asp227Glyfs) rs879254625
NM_000527.4(LDLR):c.669_683delGGACAAATCTGACGAinsAACTGCGGTAAACTGCGGTAAACT (p.Asp224_Glu228delinsThrAlaValAsnCysGlyLysLeu) rs1131692198
NM_000527.4(LDLR):c.67+1G>A rs762417023
NM_000527.4(LDLR):c.67+1G>T rs762417023
NM_000527.4(LDLR):c.67+2T>A rs879254394
NM_000527.4(LDLR):c.67+3968_940+296dup
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.670dup (p.Asp224Glyfs) rs879254629
NM_000527.4(LDLR):c.671A>T (p.Asp224Val) rs879254630
NM_000527.4(LDLR):c.671_675del (p.Asp224Valfs) rs1555803455
NM_000527.4(LDLR):c.673_682delAAATCTGACGinsTGCAA (p.Lys225Cysfs) rs879254631
NM_000527.4(LDLR):c.674_681dup (p.Glu228Asnfs) rs1555803423
NM_000527.4(LDLR):c.675_681dup (p.Glu228Ilefs) rs1555803426
NM_000527.4(LDLR):c.675del (p.Lys225Asnfs) rs879254633
NM_000527.4(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.4(LDLR):c.68-1G>A rs879254397
NM_000527.4(LDLR):c.68-1G>C rs879254397
NM_000527.4(LDLR):c.68-2A>G rs879254396
NM_000527.4(LDLR):c.68-2A>T rs879254396
NM_000527.4(LDLR):c.68-5_68-2del rs879254395
NM_000527.4(LDLR):c.68-?_1586+?del
NM_000527.4(LDLR):c.68-?_313+?del
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.680_682delACGins14 (p.?)
NM_000527.4(LDLR):c.680_682delACGinsCA (p.Asp227Alafs) rs879254637
NM_000527.4(LDLR):c.680_692del (p.Asp227Alafs) rs1057519660
NM_000527.4(LDLR):c.680_692delACGAGGAAAACTGins24 (p.?)
NM_000527.4(LDLR):c.681C>A (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.681_682insTGAG (p.Glu228Terfs) rs1555803427
NM_000527.4(LDLR):c.681del (p.Asp227Glufs) rs1057519661
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>C (p.Glu228Gln) rs121908029
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.682_683insGACAAATCTGAG (p.Glu228_Trp562delinsGlyGlnIleTer) rs879254641
NM_000527.4(LDLR):c.682del (p.Glu228Argfs) rs879254640
NM_000527.4(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.4(LDLR):c.683_694delAGGAAAACTGCG (p.Glu228_Cys231del) rs1064792905
NM_000527.4(LDLR):c.683delA (p.Glu228Glyfs) rs1555803481
NM_000527.4(LDLR):c.68_190del123 (p.Gly24_Leu64del) rs1555802242
NM_000527.4(LDLR):c.691T>C (p.Cys231Arg) rs746091400
NM_000527.4(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.4(LDLR):c.692G>A (p.Cys231Tyr) rs879254644
NM_000527.4(LDLR):c.693C>A (p.Cys231Ter) rs121908035
NM_000527.4(LDLR):c.693_694+20del rs879254645
NM_000527.4(LDLR):c.694+1G>C
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.695-1G>T rs879254652
NM_000527.4(LDLR):c.695-6_698del rs879254651
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.6delG (p.Trp4Glyfs) rs875989888
NM_000527.4(LDLR):c.702del (p.Thr235Profs) rs1555803641
NM_000527.4(LDLR):c.703dup (p.Thr235Asnfs) rs1555803643
NM_000527.4(LDLR):c.705dup (p.Cys236Leufs) rs879254653
NM_000527.4(LDLR):c.706T>C (p.Cys236Arg) rs879254655
NM_000527.4(LDLR):c.708dup (p.Arg237Serfs) rs879254656
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.718G>T (p.Glu240Ter) rs768563000
NM_000527.4(LDLR):c.722T>C (p.Phe241Ser) rs748131256
NM_000527.4(LDLR):c.722T>G (p.Phe241Cys) rs748131256
NM_000527.4(LDLR):c.724C>T (p.Gln242Ter) rs879254658
NM_000527.4(LDLR):c.731C>G (p.Ser244Cys) rs1208667598
NM_000527.4(LDLR):c.737G>T (p.Gly246Val) rs879254661
NM_000527.4(LDLR):c.737delG (p.Gly246Glufs) rs879254660
NM_000527.4(LDLR):c.742T>G (p.Cys248Gly) rs879254662
NM_000527.4(LDLR):c.743G>T (p.Cys248Phe) rs879254663
NM_000527.4(LDLR):c.744C>A (p.Cys248Ter) rs879254664
NM_000527.4(LDLR):c.752dup (p.Ser252Glnfs) rs879254666
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.760C>T (p.Gln254Ter) rs759109699
NM_000527.4(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.4(LDLR):c.762G>T (p.Gln254His) rs764526789
NM_000527.4(LDLR):c.763T>A (p.Cys255Ser) rs879254668
NM_000527.4(LDLR):c.763T>C (p.Cys255Arg) rs879254668
NM_000527.4(LDLR):c.767A>G (p.Asp256Gly) rs879254670
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.76A>T (p.Arg26Ter) rs879254398
NM_000527.4(LDLR):c.76delA (p.Arg26Aspfs) rs879254399
NM_000527.4(LDLR):c.770G>C (p.Arg257Pro) rs757808215
NM_000527.4(LDLR):c.772G>T (p.Glu258Ter) rs879254672
NM_000527.4(LDLR):c.776_777del (p.Tyr259Terfs) rs879254673
NM_000527.4(LDLR):c.77_78del (p.Arg26Metfs) rs879254400
NM_000527.4(LDLR):c.781del (p.Cys261Alafs) rs879254674
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.783C>A (p.Cys261Ter) rs1057519663
NM_000527.4(LDLR):c.790_793delATGA (p.Met264Alafs) rs879254675
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.4(LDLR):c.796_799delGATG (p.Asp266Lysfs) rs879254677
NM_000527.4(LDLR):c.796_800del (p.Asp266Serfs) rs1555803701
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.4(LDLR):c.79T>C (p.Cys27Arg) rs1555802245
NM_000527.4(LDLR):c.801A>T (p.Glu267Asp) rs879254681
NM_000527.4(LDLR):c.805G>A (p.Gly269Ser) rs1131692200
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.808T>A (p.Cys270Ser) rs879254682
NM_000527.4(LDLR):c.808T>C (p.Cys270Arg) rs879254682
NM_000527.4(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
NM_000527.4(LDLR):c.810C>A (p.Cys270Ter) rs773328511
NM_000527.4(LDLR):c.814_817delAATG (p.Asn272Terfs) rs879254684
NM_000527.4(LDLR):c.817+1G>A rs879254685
NM_000527.4(LDLR):c.817+1G>T rs879254685
NM_000527.4(LDLR):c.817+2T>G rs879254686
NM_000527.4(LDLR):c.818-1G>A rs879254688
NM_000527.4(LDLR):c.818-2A>G rs879254687
NM_000527.4(LDLR):c.818-3C>G rs886039831
NM_000527.4(LDLR):c.818-?_1186+?del
NM_000527.4(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.820_827delACACTCTG (p.Thr274Argfs) rs879254689
NM_000527.4(LDLR):c.820delA (p.T274Hfs*95) rs751122998
NM_000527.4(LDLR):c.825_826delCT (p.Cys276Argfs) rs879254691
NM_000527.4(LDLR):c.826T>G (p.Cys276Gly) rs879254692
NM_000527.4(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.4(LDLR):c.828C>G (p.Cys276Trp) rs146651743
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.829G>T (p.Glu277Ter) rs148698650
NM_000527.4(LDLR):c.82G>A (p.Glu28Lys) rs551747280
NM_000527.4(LDLR):c.82G>T (p.Glu28Ter) rs551747280
NM_000527.4(LDLR):c.839_848dup (p.Cys284Glnfs) rs1555803837
NM_000527.4(LDLR):c.840_841insT (p.Lys281Terfs) rs1555803841
NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.4(LDLR):c.850T>G (p.Cys284Gly) rs879254693
NM_000527.4(LDLR):c.853C>T (p.His285Tyr) rs730882091
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.859G>A (p.Gly287Ser) rs375495026
NM_000527.4(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.4(LDLR):c.85A>T (p.Arg29Ter) rs879254401
NM_000527.4(LDLR):c.860del (p.Gly287Alafs) rs1131692201
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.862G>T (p.Glu288Ter) rs368657165
NM_000527.4(LDLR):c.865del (p.Cys289Alafs) rs879254696
NM_000527.4(LDLR):c.874del (p.Leu292Trpfs) rs879254700
NM_000527.4(LDLR):c.875dup (p.Asp293Glyfs) rs879254701
NM_000527.4(LDLR):c.877del (p.Asp293Thrfs) rs879254702
NM_000527.4(LDLR):c.880A>G (p.Lys294Glu) rs879254703
NM_000527.4(LDLR):c.881_882delAA (p.Lys294Serfs) rs879254704
NM_000527.4(LDLR):c.882_883del (p.Lys294Asnfs) rs1131692202
NM_000527.4(LDLR):c.884del (p.Val295Alafs) rs879254705
NM_000527.4(LDLR):c.886T>C (p.Cys296Arg) rs1555803879
NM_000527.4(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.4(LDLR):c.887_889delGCAinsAGC (p.Cys296Ter) rs879254706
NM_000527.4(LDLR):c.888C>A (p.Cys296Ter) rs879254708
NM_000527.4(LDLR):c.889A>C (p.Asn297His) rs879254709
NM_000527.4(LDLR):c.890delA (p.Asn297Thrfs) rs879254710
NM_000527.4(LDLR):c.896delC (p.Ala299Valfs) rs879254712
NM_000527.4(LDLR):c.898A>G (p.Arg300Gly) rs767618089
NM_000527.4(LDLR):c.898A>T (p.Arg300Ter) rs767618089
NM_000527.4(LDLR):c.902A>G (p.Asp301Gly) rs879254714
NM_000527.4(LDLR):c.904T>C (p.Cys302Arg) rs1555803891
NM_000527.4(LDLR):c.905G>T (p.Cys302Phe) rs879254715
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.908_926dup (p.Ile310Glyfs) rs875989908
NM_000527.4(LDLR):c.90_91insTGTGTTT (p.Glu31Cysfs) rs1555802258
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.4(LDLR):c.910G>T (p.Asp304Tyr) rs121908030
NM_000527.4(LDLR):c.911A>T (p.Asp304Val) rs1555803898
NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.4(LDLR):c.914G>A (p.Trp305Ter) rs879254717
NM_000527.4(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.4(LDLR):c.915G>A (p.Trp305Ter) rs757252110
NM_000527.4(LDLR):c.915G>C (p.Trp305Cys) rs757252110
NM_000527.4(LDLR):c.916_919dup (p.Asp307Valfs) rs879254718
NM_000527.4(LDLR):c.917C>A (p.Ser306Ter) rs11547917
NM_000527.4(LDLR):c.917C>G (p.Ser306Ter) rs11547917
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.919G>C (p.Asp307His) rs879254719
NM_000527.4(LDLR):c.91G>A (p.Glu31Lys) rs776421777
NM_000527.4(LDLR):c.91G>T (p.Glu31Ter) rs776421777
NM_000527.4(LDLR):c.91_104del (p.Glu31Argfs) rs1555802259
NM_000527.4(LDLR):c.921T>G (p.Asp307Glu) rs879254720
NM_000527.4(LDLR):c.922G>A (p.Glu308Lys) rs879254721
NM_000527.4(LDLR):c.925_931delCCCATCA (p.Pro309Lysfs) rs387906304
NM_000527.4(LDLR):c.928dup (p.Ile310Asnfs) rs1555803912
NM_000527.4(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.4(LDLR):c.932_933delAA (p.Lys311Argfs) rs879254723
NM_000527.4(LDLR):c.933delA (p.Glu312Serfs) rs879254723
NM_000527.4(LDLR):c.934G>T (p.Glu312Ter) rs879254725
NM_000527.4(LDLR):c.935_936del (p.Glu312Valfs) rs879254726
NM_000527.4(LDLR):c.936_940delGTGCG (p.Cys313Aspfs) rs879254727
NM_000527.4(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.4(LDLR):c.938G>A (p.Cys313Tyr) rs875989911
NM_000527.4(LDLR):c.938_939delGCinsAT (p.Cys313Tyr) rs875989910
NM_000527.4(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.4(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.4(LDLR):c.93_99delGTTCCAG (p.Glu31Aspfs) rs879254402
NM_000527.4(LDLR):c.940+1G>C rs879254729
NM_000527.4(LDLR):c.940+1G>T rs879254729
NM_000527.4(LDLR):c.940+1dup rs1057519666
NM_000527.4(LDLR):c.940+2T>A rs875989912
NM_000527.4(LDLR):c.940+2T>C rs875989912
NM_000527.4(LDLR):c.940+2T>G rs875989912
NM_000527.4(LDLR):c.940_940+14del rs1057519665
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-1G>A rs879254735
NM_000527.4(LDLR):c.941-2A>G rs112366278
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.4(LDLR):c.941-?_1186+?del
NM_000527.4(LDLR):c.941-?_1186+?dup
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.4(LDLR):c.946_994del49 (p.Asn316Leufs) rs879254736
NM_000527.4(LDLR):c.948del (p.Asn316Lysfs) rs1555804443
NM_000527.4(LDLR):c.949G>A (p.Glu317Lys) rs746834464
NM_000527.4(LDLR):c.949G>T (p.Glu317Ter) rs746834464
NM_000527.4(LDLR):c.949dup (p.Glu317Glyfs) rs1135402769
NM_000527.4(LDLR):c.951delA (p.Glu317Aspfs) rs879254737
NM_000527.4(LDLR):c.954C>A (p.Cys318Ter) rs1323416354
NM_000527.4(LDLR):c.95T>G (p.Phe32Cys) rs879254403
NM_000527.4(LDLR):c.961_962delAA (p.Asn321Glnfs) rs879254740
NM_000527.4(LDLR):c.964_966delAAC (p.Asn322del) rs879254741
NM_000527.4(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.4(LDLR):c.967G>T (p.Gly323Cys) rs373869746
NM_000527.4(LDLR):c.968delG (p.Gly323Alafs) rs879254743
NM_000527.4(LDLR):c.969del (p.Gly324Alafs) rs879254744
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.971delG (p.Gly324Alafs) rs879254745
NM_000527.4(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.4(LDLR):c.97C>T (p.Gln33Ter) rs121908024
NM_000527.4(LDLR):c.980dup (p.His327Glnfs) rs879254748
NM_000527.4(LDLR):c.985T>C (p.Cys329Arg) rs879254749
NM_000527.4(LDLR):c.985T>G (p.Cys329Gly) rs879254749
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_000527.4(LDLR):c.987C>A (p.Cys329Ter) rs1555804467
NM_000527.4(LDLR):c.996_1009delTAAGATCGGCTACGinsGCA (p.Lys333Glnfs)
NM_000527.4(LDLR):c.99delG (p.Gln33Hisfs) rs879254404
NM_000527.4(LDLR):c.9del (p.Trp4Glyfs) rs879254384
NM_000527.4(LDLR):c.[649_654dupGATGGT;657_661delCCCCG]
NM_000527.4:c.272del
NM_000527.4:c.[829G>A;1268T>C]
NM_000527.4:c.[932A>G;939C>G]
NM_001195799.1(LDLR):c.191-2433_191-2432insG rs879254466
NM_001195800.1(LDLR):c.314-1792_314-827del rs1555803491

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