NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
NM_000527.5(LDLR):c.1186+5G>C
|
rs879254821
|
0.00001
|
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter)
|
rs869320652
|
0.00001
|
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)
|
rs199774121
|
0.00001
|
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter)
|
rs879254672
|
0.00001
|
NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del
|
|
|
NM_000527.4(LDLR):c.680_682delACGins14 (p.?)
|
|
|
NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter)
|
rs767024374
|
|
NM_000527.5(LDLR):c.1008del (p.Gly335_Tyr336insTer)
|
rs879254751
|
|
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)
|
rs879254758
|
|
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
|
|
|
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter)
|
rs748300548
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
NM_000527.5(LDLR):c.1056_1060+3del
|
rs879254770
|
|
NM_000527.5(LDLR):c.1061-1G>A
|
rs879254774
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
NM_000527.5(LDLR):c.1085del (p.Asp362fs)
|
rs879254786
|
|
NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter)
|
rs113669610
|
|
NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs)
|
rs879254799
|
|
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)
|
rs879254805
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
NM_000527.5(LDLR):c.1187del
|
|
|
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)
|
rs201016593
|
|
NM_000527.5(LDLR):c.1257C>A (p.Tyr419Ter)
|
rs774439908
|
|
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter)
|
rs774439908
|
|
NM_000527.5(LDLR):c.126C>G (p.Tyr42Ter)
|
rs751317621
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
NM_000527.5(LDLR):c.1330del (p.Ser444fs)
|
rs1057519671
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
NM_000527.5(LDLR):c.1343del (p.Gln448fs)
|
rs879254872
|
|
NM_000527.5(LDLR):c.1358+1G>A
|
rs775924858
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
NM_000527.5(LDLR):c.1449G>A (p.Trp483Ter)
|
rs879254907
|
|
NM_000527.5(LDLR):c.1477_1479delinsAGAGACA (p.Ser493fs)
|
rs879254919
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
NM_000527.5(LDLR):c.1478del (p.Ser493fs)
|
rs1057519672
|
|
NM_000527.5(LDLR):c.1529del (p.Thr510fs)
|
rs1057519673
|
|
NM_000527.5(LDLR):c.1549_1555del (p.Ser517fs)
|
rs879254935
|
|
NM_000527.5(LDLR):c.1571_1572del (p.Val524fs)
|
rs1057519674
|
|
NM_000527.5(LDLR):c.1587-2A>T
|
rs879254947
|
|
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter)
|
rs746939188
|
|
NM_000527.5(LDLR):c.1610del (p.Gly537fs)
|
rs879254959
|
|
NM_000527.5(LDLR):c.1632del (p.Gly546fs)
|
rs879254964
|
|
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter)
|
rs879254981
|
|
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn)
|
rs879254989
|
|
NM_000527.5(LDLR):c.1705+1G>T
|
rs875989926
|
|
NM_000527.5(LDLR):c.1705+2_1705+3insC
|
rs879254994
|
|
NM_000527.5(LDLR):c.1706-2A>T
|
rs878854027
|
|
NM_000527.5(LDLR):c.1718del (p.Gly573fs)
|
rs879254998
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
NM_000527.5(LDLR):c.1737del (p.Ser580fs)
|
rs879255005
|
|
NM_000527.5(LDLR):c.1749_1753del (p.Ser584fs)
|
rs879255008
|
|
NM_000527.5(LDLR):c.1773_1774delinsT (p.Gly593fs)
|
rs1057519676
|
|
NM_000527.5(LDLR):c.1778del (p.Gly593fs)
|
rs875989931
|
|
NM_000527.5(LDLR):c.1845+1G>C
|
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
NM_000527.5(LDLR):c.1886del (p.Phe629fs)
|
rs879255068
|
|
NM_000527.5(LDLR):c.191-1G>A
|
rs879254433
|
|
NM_000527.5(LDLR):c.191T>A (p.Leu64Ter)
|
rs774016801
|
|
NM_000527.5(LDLR):c.1934dup (p.Asn645fs)
|
rs879255076
|
|
NM_000527.5(LDLR):c.1961_1965dup (p.His656fs)
|
rs879255088
|
|
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter)
|
rs193922569
|
|
NM_000527.5(LDLR):c.1980_1983del (p.Pro661fs)
|
rs1057519679
|
|
NM_000527.5(LDLR):c.1988-2A>G
|
rs879255101
|
|
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter)
|
rs760436036
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter)
|
rs879255126
|
|
NM_000527.5(LDLR):c.2068del (p.His690fs)
|
rs879255130
|
|
NM_000527.5(LDLR):c.2068dup (p.His690fs)
|
|
|
NM_000527.5(LDLR):c.2078dup (p.Phe694fs)
|
rs1057519682
|
|
NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs)
|
rs879255133
|
|
NM_000527.5(LDLR):c.2085del (p.Cys696fs)
|
rs1057519683
|
|
NM_000527.5(LDLR):c.2134dup (p.Leu712fs)
|
rs1057519685
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs)
|
rs1057519687
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
|
|
NM_000527.5(LDLR):c.2311+2T>G
|
rs879255176
|
|
NM_000527.5(LDLR):c.2417_2418insG (p.Phe807fs)
|
rs879255207
|
|
NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter)
|
rs879255213
|
|
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs)
|
rs387906302
|
|
NM_000527.5(LDLR):c.244_250dup (p.Pro84fs)
|
rs1057519653
|
|
NM_000527.5(LDLR):c.244del (p.Cys82fs)
|
rs879254446
|
|
NM_000527.5(LDLR):c.2482dup (p.Tyr828fs)
|
rs1057519690
|
|
NM_000527.5(LDLR):c.2509del (p.His837fs)
|
|
|
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter)
|
rs875989893
|
|
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)
|
rs771019366
|
|
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu)
|
rs372828849
|
|
NM_000527.5(LDLR):c.301G>T (p.Glu101Ter)
|
rs144172724
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.313+1G>T
|
rs112029328
|
|
NM_000527.5(LDLR):c.313+1dup
|
rs879254466
|
|
NM_000527.5(LDLR):c.313_313+1del
|
rs875989896
|
|
NM_000527.5(LDLR):c.314-2A>T
|
rs879254470
|
|
NM_000527.5(LDLR):c.327C>A (p.Cys109Ter)
|
rs1057519654
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
NM_000527.5(LDLR):c.350_372dup (p.Gln125fs)
|
rs879254487
|
|
NM_000527.5(LDLR):c.41dup (p.Leu14fs)
|
rs879254388
|
|
NM_000527.5(LDLR):c.450dup (p.Ala151fs)
|
rs879254530
|
|
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)
|
rs879254534
|
|
NM_000527.5(LDLR):c.465C>A (p.Cys155Ter)
|
rs766094434
|
|
NM_000527.5(LDLR):c.482_488del (p.Ile161fs)
|
rs879254542
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
NM_000527.5(LDLR):c.518del (p.Cys173fs)
|
rs879254559
|
|
NM_000527.5(LDLR):c.535G>T (p.Glu179Ter)
|
rs879254567
|
|
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)
|
rs121908034
|
|
NM_000527.5(LDLR):c.609del (p.Cys204fs)
|
rs879254591
|
|
NM_000527.5(LDLR):c.617del (p.Ser206fs)
|
rs879254594
|
|
NM_000527.5(LDLR):c.646del (p.Cys216fs)
|
rs879254609
|
|
NM_000527.5(LDLR):c.666_682dup (p.Glu228fs)
|
rs1057519662
|
|
NM_000527.5(LDLR):c.666_687del (p.Asp221_Cys222insTer)
|
rs879254623
|
|
NM_000527.5(LDLR):c.67+2T>A
|
rs879254394
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
NM_000527.5(LDLR):c.680_692del (p.Asp227fs)
|
rs1057519660
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.681_682insTGAG (p.Glu228Ter)
|
rs1555803427
|
|
NM_000527.5(LDLR):c.681del (p.Asp227fs)
|
rs1057519661
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
NM_000527.5(LDLR):c.682del (p.Glu228fs)
|
rs879254640
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
|
|
NM_000527.5(LDLR):c.781del (p.Cys261fs)
|
rs879254674
|
|
NM_000527.5(LDLR):c.783C>A (p.Cys261Ter)
|
rs1057519663
|
|
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)
|
rs2228671
|
|
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
|
|
|
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys)
|
rs375495026
|
|
NM_000527.5(LDLR):c.875dup (p.Asp293fs)
|
rs879254701
|
|
NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr)
|
rs121908030
|
|
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)
|
rs776421777
|
|
NM_000527.5(LDLR):c.932_933del (p.Lys311fs)
|
rs879254723
|
|
NM_000527.5(LDLR):c.940+1G>C
|
rs879254729
|
|
NM_000527.5(LDLR):c.940+1dup
|
rs1057519666
|
|
NM_000527.5(LDLR):c.940+2T>A
|
rs875989912
|
|
NM_000527.5(LDLR):c.940+2T>G
|
rs875989912
|
|
NM_000527.5(LDLR):c.940_940+14del
|
rs1057519665
|
|
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734
|
|
NM_000527.5(LDLR):c.967G>T (p.Gly323Cys)
|
rs373869746
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|