NM_174936.4(PCSK9):c.1026A>G (p.Gln342=)
|
rs509504
|
0.98223
|
NM_174936.4(PCSK9):c.1380A>G (p.Val460=)
|
rs540796
|
0.82761
|
NM_000527.5(LDLR):c.2232A>G (p.Arg744=)
|
rs5927
|
0.74675
|
NM_000527.5(LDLR):c.1413A>G (p.Arg471=)
|
rs5930
|
0.65878
|
NM_000527.5(LDLR):c.1706-55A>C
|
rs2738447
|
0.65266
|
NM_174936.4(PCSK9):c.799+3A>G
|
rs2495477
|
0.49156
|
NM_174936.4(PCSK9):c.658-7C>T
|
rs2483205
|
0.45035
|
NM_000527.5(LDLR):c.1959T>C (p.Val653=)
|
rs5925
|
0.37370
|
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)
|
rs688
|
0.33392
|
NM_000527.5(LDLR):c.67+2015G>T
|
rs6511720
|
0.11675
|
NM_000527.5(LDLR):c.1725C>T (p.Leu575=)
|
rs1799898
|
0.11001
|
NM_000527.5(LDLR):c.190+56G>A
|
rs3745677
|
0.09858
|
NM_174936.4(PCSK9):c.207+209C>T
|
rs11583723
|
0.09478
|
NM_000527.5(LDLR):c.81C>T (p.Cys27=)
|
rs2228671
|
0.08613
|
NM_000527.5(LDLR):c.1617C>T (p.Pro539=)
|
rs5929
|
0.07003
|
NM_174936.4(PCSK9):c.657+9G>A
|
rs11800243
|
0.03991
|
NM_000527.5(LDLR):c.1060+109T>G
|
rs10401667
|
0.03443
|
NM_000527.5(LDLR):c.90C>T (p.Asn30=)
|
rs72658855
|
0.00965
|
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
|
rs5926
|
0.00319
|
NM_000527.5(LDLR):c.1060+40G>A
|
rs192390193
|
0.00260
|
NM_000527.5(LDLR):c.498C>T (p.Ala166=)
|
rs10417394
|
0.00153
|
NM_000527.5(LDLR):c.858C>T (p.Ser286=)
|
rs140241383
|
0.00116
|
NM_000527.5(LDLR):c.828C>T (p.Cys276=)
|
rs146651743
|
0.00096
|
NM_000527.5(LDLR):c.1186+106G>A
|
rs191859969
|
0.00092
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_000527.5(LDLR):c.1056C>T (p.Cys352=)
|
rs13306515
|
0.00026
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_000527.5(LDLR):c.1491T>C (p.Thr497=)
|
rs145252288
|
0.00015
|
NM_000527.5(LDLR):c.165C>G (p.Gly55=)
|
rs150644181
|
0.00015
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu)
|
rs749322464
|
0.00006
|
NM_000527.5(LDLR):c.108C>T (p.Asp36=)
|
rs373144619
|
0.00006
|
NM_000527.5(LDLR):c.1359-31G>A
|
rs369781605
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000527.5(LDLR):c.681C>T (p.Asp227=)
|
rs121908028
|
0.00006
|
NM_000527.5(LDLR):c.2427A>G (p.Leu809=)
|
rs147191787
|
0.00005
|
NM_000527.5(LDLR):c.351C>T (p.His117=)
|
rs200258458
|
0.00005
|
NM_000527.5(LDLR):c.660C>T (p.Pro220=)
|
rs143002616
|
0.00005
|
NM_000527.5(LDLR):c.291C>T (p.Asn97=)
|
rs372845091
|
0.00004
|
NM_000527.5(LDLR):c.434T>C (p.Val145Ala)
|
rs776872913
|
0.00004
|
NM_000527.5(LDLR):c.1002C>T (p.Ile334=)
|
rs762853526
|
0.00003
|
NM_000527.5(LDLR):c.1221C>T (p.His407=)
|
rs778424518
|
0.00003
|
NM_000527.5(LDLR):c.1431C>T (p.Asp477=)
|
rs368610522
|
0.00003
|
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala)
|
rs780300776
|
0.00003
|
NM_000527.5(LDLR):c.417C>T (p.Asp139=)
|
rs537484504
|
0.00003
|
NM_000527.5(LDLR):c.450C>T (p.Pro150=)
|
rs773365925
|
0.00003
|
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)
|
rs730882103
|
0.00002
|
NM_000527.5(LDLR):c.324G>C (p.Thr108=)
|
rs146517429
|
0.00002
|
NM_000527.5(LDLR):c.408C>T (p.Asp136=)
|
rs759738744
|
0.00002
|
NM_174936.4(PCSK9):c.1119C>T (p.Ser373=)
|
rs139683719
|
0.00002
|
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val)
|
rs879254776
|
0.00001
|
NM_000527.5(LDLR):c.1187-48A>G
|
rs376882446
|
0.00001
|
NM_000527.5(LDLR):c.191-50C>T
|
rs374168004
|
0.00001
|
NM_000527.5(LDLR):c.2260G>A (p.Gly754Arg)
|
rs559239150
|
0.00001
|
NM_000527.5(LDLR):c.378C>T (p.Phe126=)
|
rs762139262
|
0.00001
|
NM_000527.5(LDLR):c.531G>A (p.Ser177=)
|
rs555158224
|
0.00001
|
NM_000527.5(LDLR):c.548G>A (p.Arg183His)
|
rs767273754
|
0.00001
|
NM_000527.5(LDLR):c.1050A>C (p.Arg350=)
|
rs1555804560
|
|
NM_000527.5(LDLR):c.1060+10G>C
|
|
|
NM_000527.5(LDLR):c.1060+7=
|
|
|
NM_000527.5(LDLR):c.1061-8T>A
|
rs72658861
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu)
|
rs373144619
|
|
NM_000527.5(LDLR):c.1092C>T (p.Cys364=)
|
rs1555804729
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
|
|
NM_000527.5(LDLR):c.1185G>C (p.Val395=)
|
rs879254818
|
|
NM_000527.5(LDLR):c.1187-9G>C
|
rs896885804
|
|
NM_000527.5(LDLR):c.123C>T (p.Ser41=)
|
rs1555802284
|
|
NM_000527.5(LDLR):c.1336C>T (p.Leu446=)
|
rs375651668
|
|
NM_000527.5(LDLR):c.1359-30C>T
|
|
|
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT
|
rs879254876
|
|
NM_000527.5(LDLR):c.1412G>A (p.Arg471Lys)
|
rs1131692207
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly)
|
rs879255027
|
|
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg)
|
rs1302327551
|
|
NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser)
|
rs879255042
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1863A>C (p.Thr621=)
|
rs768509914
|
|
NM_000527.5(LDLR):c.1987+47G>A
|
rs368167279
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
NM_000527.5(LDLR):c.2141-89G>A
|
rs183331751
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
NM_000527.5(LDLR):c.2389+46C>T
|
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
NM_000527.5(LDLR):c.2389+5G>A
|
rs879255191
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.324G>A (p.Thr108=)
|
rs146517429
|
|
NM_000527.5(LDLR):c.324G>T (p.Thr108=)
|
rs146517429
|
|
NM_000527.5(LDLR):c.345C>T (p.Arg115=)
|
rs150144164
|
|
NM_000527.5(LDLR):c.402C>T (p.Cys134=)
|
rs879254515
|
|
NM_000527.5(LDLR):c.426C>A (p.Ser142=)
|
rs1555803245
|
|
NM_000527.5(LDLR):c.543G>T (p.Pro181=)
|
rs766577671
|
|
NM_000527.5(LDLR):c.567G>C (p.Val189=)
|
rs753329861
|
|
NM_000527.5(LDLR):c.68-79G>T
|
rs141878815
|
|
NM_000527.5(LDLR):c.738A>G (p.Gly246=)
|
rs1555803658
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.819G>A (p.Val273=)
|
rs1555803817
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
NM_000527.5(LDLR):c.941-4G>A
|
|
|
NM_000527.5(LDLR):c.962del (p.Asn321fs)
|
rs1555804455
|
|
NM_174936.4(PCSK9):c.-168C>A
|
rs1553135350
|
|
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
|
|
|
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
|
|
|
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
|
|
|
NM_174936.4(PCSK9):c.250G>A (p.Glu84Lys)
|
rs1553135931
|
|
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
|
|
|
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)
|
rs35574083
|
|
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)
|
rs35574083
|
|