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.1959T>C (p.Val653=)
|
rs5925
|
0.37370
|
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)
|
rs688
|
0.33392
|
NM_000527.5(LDLR):c.1725C>T (p.Leu575=)
|
rs1799898
|
0.11001
|
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_000527.5(LDLR):c.1323C>T (p.Ile441=)
|
rs5933
|
0.00134
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_000527.5(LDLR):c.*1227C>T
|
rs72658875
|
0.00052
|
NM_000527.5(LDLR):c.1167G>A (p.Thr389=)
|
rs139066906
|
0.00052
|
NM_000527.5(LDLR):c.1977C>A (p.Thr659=)
|
rs72658866
|
0.00032
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00026
|
NM_000527.5(LDLR):c.564C>T (p.Tyr188=)
|
rs121908034
|
0.00016
|
NM_000527.5(LDLR):c.165C>G (p.Gly55=)
|
rs150644181
|
0.00015
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
NM_000527.5(LDLR):c.2358C>T (p.Ser786=)
|
rs183255090
|
0.00008
|
NM_000527.5(LDLR):c.1428C>T (p.Pro476=)
|
rs543392107
|
0.00006
|
NM_000527.5(LDLR):c.681C>T (p.Asp227=)
|
rs121908028
|
0.00006
|
NM_000527.5(LDLR):c.-121T>C
|
rs777716188
|
0.00003
|
NM_000527.5(LDLR):c.1038G>A (p.Leu346=)
|
rs769228441
|
0.00003
|
NM_000527.5(LDLR):c.1186+9G>A
|
rs768475018
|
0.00003
|
NM_000527.5(LDLR):c.1705+9G>A
|
rs370098796
|
0.00003
|
NM_000527.5(LDLR):c.-13A>G
|
rs376011618
|
0.00002
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn)
|
rs730882101
|
0.00001
|
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp)
|
rs878854025
|
0.00001
|
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
|
rs138947766
|
0.00001
|
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127
|
0.00001
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000527.4(LDLR):c.-140C>T
|
rs875989887
|
|
NM_000527.4(LDLR):c.-151C>A
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.5(LDLR):c.*2196TA[9]
|
|
|
NM_000527.5(LDLR):c.*2208T>C
|
rs886054185
|
|
NM_000527.5(LDLR):c.1020C>A (p.Cys340Ter)
|
|
|
NM_000527.5(LDLR):c.1060+10G>C
|
|
|
NM_000527.5(LDLR):c.1060+7=
|
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)
|
rs879254800
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter)
|
rs774439908
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
NM_000527.5(LDLR):c.1492_1493del (p.Val498fs)
|
rs2077419354
|
|
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter)
|
rs879254981
|
|
NM_000527.5(LDLR):c.1705+1G>A
|
rs875989926
|
|
NM_000527.5(LDLR):c.1706A>G (p.Asp569Gly)
|
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.1743A>T (p.Lys581Asn)
|
rs1555806428
|
|
NM_000527.5(LDLR):c.1823C>A (p.Pro608His)
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp)
|
rs879255109
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
NM_000527.5(LDLR):c.2389+14G>A
|
|
|
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del)
|
rs879255201
|
|
NM_000527.5(LDLR):c.2583_*4del (p.Ter861CysextTer?)
|
|
|
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)
|
rs771019366
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.313+3A>C
|
rs1064793799
|
|
NM_000527.5(LDLR):c.324G>T (p.Thr108=)
|
rs146517429
|
|
NM_000527.5(LDLR):c.330C>G (p.Ser110=)
|
rs768109825
|
|
NM_000527.5(LDLR):c.413C>T (p.Ser138Leu)
|
|
|
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr)
|
rs879254522
|
|
NM_000527.5(LDLR):c.599T>G (p.Phe200Cys)
|
rs879254586
|
|
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)
|
rs879254597
|
|
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer)
|
rs879254626
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
NM_000527.5(LDLR):c.818-2A>G
|
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)
|
rs875989910
|
|
NM_000527.5(LDLR):c.960del (p.Asp320fs)
|
|
|