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.90C>T (p.Asn30=)
|
rs72658855
|
0.00965
|
NM_000527.4(LDLR):c.-217C>T
|
rs17249141
|
0.00338
|
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
|
rs5926
|
0.00319
|
NM_000527.5(LDLR):c.67+18C>A
|
rs17242759
|
0.00319
|
NM_000527.5(LDLR):c.2390-16G>A
|
rs183496025
|
0.00221
|
NM_000527.5(LDLR):c.1545C>T (p.Asn515=)
|
rs147896205
|
0.00183
|
NM_000527.5(LDLR):c.498C>T (p.Ala166=)
|
rs10417394
|
0.00153
|
NM_000527.5(LDLR):c.1194C>T (p.Ile398=)
|
rs13306498
|
0.00138
|
NM_000527.5(LDLR):c.1323C>T (p.Ile441=)
|
rs5933
|
0.00134
|
NM_000527.5(LDLR):c.*19G>A
|
rs56270417
|
0.00117
|
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.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_000527.5(LDLR):c.1167G>A (p.Thr389=)
|
rs139066906
|
0.00052
|
NM_000527.5(LDLR):c.2055G>A (p.Pro685=)
|
rs149126953
|
0.00040
|
NM_000527.5(LDLR):c.694+9G>A
|
rs34093283
|
0.00040
|
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.1056C>T (p.Cys352=)
|
rs13306515
|
0.00026
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00026
|
NM_000527.5(LDLR):c.1705+18C>A
|
rs186896947
|
0.00022
|
NM_000527.5(LDLR):c.1530G>A (p.Thr510=)
|
rs367655096
|
0.00019
|
NM_000527.5(LDLR):c.345C>G (p.Arg115=)
|
rs150144164
|
0.00018
|
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys)
|
rs539080792
|
0.00016
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_000527.5(LDLR):c.564C>T (p.Tyr188=)
|
rs121908034
|
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.1867A>G (p.Ile623Val)
|
rs555292896
|
0.00013
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_000527.5(LDLR):c.2389+8C>T
|
rs747170426
|
0.00011
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala)
|
rs730882107
|
0.00008
|
NM_000527.5(LDLR):c.1764C>T (p.Ile588=)
|
rs778595540
|
0.00008
|
NM_000527.5(LDLR):c.2179G>A (p.Val727Ile)
|
rs769247787
|
0.00008
|
NM_000527.5(LDLR):c.2358C>T (p.Ser786=)
|
rs183255090
|
0.00008
|
NM_000527.5(LDLR):c.1710C>T (p.Leu570=)
|
rs141095938
|
0.00007
|
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)
|
rs200142970
|
0.00007
|
NM_000527.5(LDLR):c.267C>T (p.Cys89=)
|
rs777640882
|
0.00007
|
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)
|
rs759109699
|
0.00007
|
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.1428C>T (p.Pro476=)
|
rs543392107
|
0.00006
|
NM_000527.5(LDLR):c.147C>T (p.Ser49=)
|
rs138078086
|
0.00006
|
NM_000527.5(LDLR):c.1516G>A (p.Val506Met)
|
rs373848925
|
0.00006
|
NM_000527.5(LDLR):c.1846-10G>T
|
rs368243304
|
0.00006
|
NM_000527.5(LDLR):c.1887C>T (p.Phe629=)
|
rs751234870
|
0.00006
|
NM_000527.5(LDLR):c.1988-5C>G
|
rs375877599
|
0.00006
|
NM_000527.5(LDLR):c.200C>T (p.Thr67Ile)
|
rs1337448484
|
0.00006
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn)
|
rs138190838
|
0.00006
|
NM_000527.5(LDLR):c.233G>A (p.Arg78His)
|
rs146675823
|
0.00006
|
NM_000527.5(LDLR):c.2389+13C>T
|
rs372802068
|
0.00006
|
NM_000527.5(LDLR):c.2397C>T (p.Leu799=)
|
rs367882846
|
0.00006
|
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser)
|
rs13306510
|
0.00006
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00006
|
NM_000527.5(LDLR):c.681C>T (p.Asp227=)
|
rs121908028
|
0.00006
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00006
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp)
|
rs756864388
|
0.00005
|
NM_000527.5(LDLR):c.2427A>G (p.Leu809=)
|
rs147191787
|
0.00005
|
NM_000527.5(LDLR):c.2574C>T (p.Asp858=)
|
rs139757711
|
0.00005
|
NM_000527.5(LDLR):c.2577G>A (p.Val859=)
|
rs201685587
|
0.00005
|
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val)
|
rs13306505
|
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.710G>A (p.Arg237His)
|
rs148171426
|
0.00005
|
NM_000527.5(LDLR):c.861C>T (p.Gly287=)
|
rs770191650
|
0.00005
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
NM_000527.5(LDLR):c.1078G>C (p.Asp360His)
|
rs777926251
|
0.00004
|
NM_000527.5(LDLR):c.1279A>C (p.Arg427=)
|
rs371355878
|
0.00004
|
NM_000527.5(LDLR):c.1380C>T (p.His460=)
|
rs768883894
|
0.00004
|
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile)
|
rs5932
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_000527.5(LDLR):c.1586+13G>A
|
rs1165530512
|
0.00004
|
NM_000527.5(LDLR):c.1713C>T (p.Leu571=)
|
rs1015887338
|
0.00004
|
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)
|
rs141155833
|
0.00004
|
NM_000527.5(LDLR):c.190T>C (p.Leu64=)
|
rs761629258
|
0.00004
|
NM_000527.5(LDLR):c.1944C>T (p.Ser648=)
|
rs774330316
|
0.00004
|
NM_000527.5(LDLR):c.1988-13T>G
|
rs200201131
|
0.00004
|
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu)
|
rs369943481
|
0.00004
|
NM_000527.5(LDLR):c.2140+86C>T
|
rs587776886
|
0.00004
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00004
|
NM_000527.5(LDLR):c.2575G>A (p.Val859Met)
|
rs202049029
|
0.00004
|
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.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn)
|
rs562712652
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg)
|
rs72658858
|
0.00004
|
NM_000527.4(LDLR):c.-286C>G
|
rs989307060
|
0.00003
|
NM_000527.5(LDLR):c.-121T>C
|
rs777716188
|
0.00003
|
NM_000527.5(LDLR):c.1002C>T (p.Ile334=)
|
rs762853526
|
0.00003
|
NM_000527.5(LDLR):c.1038G>A (p.Leu346=)
|
rs769228441
|
0.00003
|
NM_000527.5(LDLR):c.1060+9C>T
|
rs540073140
|
0.00003
|
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
NM_000527.5(LDLR):c.1221C>T (p.His407=)
|
rs778424518
|
0.00003
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
NM_000527.5(LDLR):c.1431C>T (p.Asp477=)
|
rs368610522
|
0.00003
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
NM_000527.5(LDLR):c.1705+9G>A
|
rs370098796
|
0.00003
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_000527.5(LDLR):c.1835C>T (p.Ala612Val)
|
rs377449975
|
0.00003
|
NM_000527.5(LDLR):c.186G>A (p.Thr62=)
|
rs55958434
|
0.00003
|
NM_000527.5(LDLR):c.1957G>A (p.Val653Ile)
|
rs879255085
|
0.00003
|
NM_000527.5(LDLR):c.1988-7G>A
|
rs529021326
|
0.00003
|
NM_000527.5(LDLR):c.2241C>T (p.Pro747=)
|
rs554523758
|
0.00003
|
NM_000527.5(LDLR):c.2323G>A (p.Val775Ile)
|
rs199766976
|
0.00003
|
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala)
|
rs780300776
|
0.00003
|
NM_000527.5(LDLR):c.2359G>A (p.Val787Met)
|
rs143771219
|
0.00003
|
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)
|
rs764493597
|
0.00003
|
NM_000527.5(LDLR):c.2388C>T (p.Ile796=)
|
rs543852919
|
0.00003
|
NM_000527.5(LDLR):c.2398G>A (p.Val800Ile)
|
rs200243555
|
0.00003
|
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro)
|
rs879255203
|
0.00003
|
NM_000527.5(LDLR):c.2510A>G (p.His837Arg)
|
rs150631538
|
0.00003
|
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu)
|
rs377437226
|
0.00003
|
NM_000527.5(LDLR):c.285C>T (p.Cys95=)
|
rs139400379
|
0.00003
|
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)
|
rs750474121
|
0.00003
|
NM_000527.5(LDLR):c.300C>T (p.Asp100=)
|
rs766709484
|
0.00003
|
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292
|
0.00003
|
NM_000527.5(LDLR):c.450C>T (p.Pro150=)
|
rs773365925
|
0.00003
|
NM_000527.5(LDLR):c.501C>T (p.Cys167=)
|
rs752596535
|
0.00003
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
NM_000527.5(LDLR):c.717C>T (p.Asp239=)
|
rs1286110371
|
0.00003
|
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys)
|
rs1208667598
|
0.00003
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_000527.4(LDLR):c.-153C>T
|
rs879254366
|
0.00002
|
NM_000527.5(LDLR):c.-13A>G
|
rs376011618
|
0.00002
|
NM_000527.5(LDLR):c.-23A>C
|
rs763282380
|
0.00002
|
NM_000527.5(LDLR):c.-26G>T
|
rs930509187
|
0.00002
|
NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln)
|
rs875989914
|
0.00002
|
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)
|
rs767767730
|
0.00002
|
NM_000527.5(LDLR):c.1104C>T (p.Cys368=)
|
rs113669610
|
0.00002
|
NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys)
|
rs983617416
|
0.00002
|
NM_000527.5(LDLR):c.1162C>A (p.His388Asn)
|
rs764551797
|
0.00002
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
NM_000527.5(LDLR):c.1187-7C>A
|
rs773740254
|
0.00002
|
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu)
|
rs749780672
|
0.00002
|
NM_000527.5(LDLR):c.1401C>T (p.Thr467=)
|
rs780942671
|
0.00002
|
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)
|
rs730882103
|
0.00002
|
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)
|
rs755154048
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)
|
rs201971888
|
0.00002
|
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg)
|
rs763147599
|
0.00002
|
NM_000527.5(LDLR):c.1988-4C>T
|
rs781188770
|
0.00002
|
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr)
|
rs774730452
|
0.00002
|
NM_000527.5(LDLR):c.2064C>T (p.Asn688=)
|
rs142279332
|
0.00002
|
NM_000527.5(LDLR):c.2100C>T (p.Asp700=)
|
rs759858813
|
0.00002
|
NM_000527.5(LDLR):c.210C>T (p.Ser70=)
|
rs1297676592
|
0.00002
|
NM_000527.5(LDLR):c.2195G>C (p.Ser732Thr)
|
rs764542721
|
0.00002
|
NM_000527.5(LDLR):c.226G>C (p.Gly76Arg)
|
rs574337291
|
0.00002
|
NM_000527.5(LDLR):c.2301G>A (p.Met767Ile)
|
rs149237737
|
0.00002
|
NM_000527.5(LDLR):c.2307C>G (p.His769Gln)
|
rs760479588
|
0.00002
|
NM_000527.5(LDLR):c.2355T>C (p.Ser785=)
|
rs756895842
|
0.00002
|
NM_000527.5(LDLR):c.2481C>T (p.Val827=)
|
rs767524995
|
0.00002
|
NM_000527.5(LDLR):c.2548-15A>G
|
rs747745533
|
0.00002
|
NM_000527.5(LDLR):c.2552A>G (p.Gln851Arg)
|
rs372328061
|
0.00002
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
NM_000527.5(LDLR):c.324G>C (p.Thr108=)
|
rs146517429
|
0.00002
|
NM_000527.5(LDLR):c.395G>A (p.Arg132Gln)
|
rs751519676
|
0.00002
|
NM_000527.5(LDLR):c.408C>T (p.Asp136=)
|
rs759738744
|
0.00002
|
NM_000527.5(LDLR):c.608A>G (p.His203Arg)
|
rs774600508
|
0.00002
|
NM_000527.5(LDLR):c.64G>T (p.Ala22Ser)
|
rs942568624
|
0.00002
|
NM_000527.5(LDLR):c.651T>C (p.Asp217=)
|
rs201374693
|
0.00002
|
NM_000527.5(LDLR):c.720A>G (p.Glu240=)
|
rs776223298
|
0.00002
|
NM_000527.5(LDLR):c.72C>T (p.Gly24=)
|
rs774304077
|
0.00002
|
NM_000527.5(LDLR):c.940+10G>A
|
rs375070227
|
0.00002
|
NM_000527.5(LDLR):c.988A>C (p.Asn330His)
|
rs730882095
|
0.00002
|
NM_000527.5(LDLR):c.993C>T (p.Asp331=)
|
rs147905921
|
0.00002
|
NM_000527.4(LDLR):c.-102A>G
|
rs1357531646
|
0.00001
|
NM_000527.4(LDLR):c.-115T>G
|
rs1164871419
|
0.00001
|
NM_000527.4(LDLR):c.-120C>T
|
rs875989886
|
0.00001
|
NM_000527.4(LDLR):c.-162G>C
|
rs934014113
|
0.00001
|
NM_000527.4(LDLR):c.-97G>C
|
rs944580031
|
0.00001
|
NM_000527.5(LDLR):c.-14C>A
|
rs879254380
|
0.00001
|
NM_000527.5(LDLR):c.1008C>T (p.Tyr336=)
|
rs767024374
|
0.00001
|
NM_000527.5(LDLR):c.1023C>T (p.Pro341=)
|
rs376267007
|
0.00001
|
NM_000527.5(LDLR):c.1047G>A (p.Gln349=)
|
rs986687163
|
0.00001
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
NM_000527.5(LDLR):c.1061-9C>G
|
rs765020792
|
0.00001
|
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val)
|
rs879254776
|
0.00001
|
NM_000527.5(LDLR):c.1065C>G (p.Ile355Met)
|
rs960032925
|
0.00001
|
NM_000527.5(LDLR):c.1105G>A (p.Val369Met)
|
rs730882097
|
0.00001
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
NM_000527.5(LDLR):c.1164C>T (p.His388=)
|
rs1215990807
|
0.00001
|
NM_000527.5(LDLR):c.1187-11C>T
|
rs897774579
|
0.00001
|
NM_000527.5(LDLR):c.1187-17G>A
|
rs1222506134
|
0.00001
|
NM_000527.5(LDLR):c.1188C>T (p.Gly396=)
|
rs751734809
|
0.00001
|
NM_000527.5(LDLR):c.118A>G (p.Ile40Val)
|
rs765969972
|
0.00001
|
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
|
rs730882099
|
0.00001
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
|
rs137943601
|
0.00001
|
NM_000527.5(LDLR):c.1234A>T (p.Met412Leu)
|
rs1225797407
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1239G>A (p.Thr413=)
|
rs777011006
|
0.00001
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
NM_000527.5(LDLR):c.1254G>A (p.Glu418=)
|
rs766382506
|
0.00001
|
NM_000527.5(LDLR):c.1284C>T (p.Asn428=)
|
rs368708058
|
0.00001
|
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met)
|
rs745343524
|
0.00001
|
NM_000527.5(LDLR):c.1302G>A (p.Thr434=)
|
rs534782075
|
0.00001
|
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)
|
rs779732323
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1356C>T (p.Cys452=)
|
rs137853961
|
0.00001
|
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro)
|
rs200143634
|
0.00001
|
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys)
|
rs193922568
|
0.00001
|
NM_000527.5(LDLR):c.1384G>A (p.Val462Ile)
|
rs750363970
|
0.00001
|
NM_000527.5(LDLR):c.138C>T (p.Cys46=)
|
rs754676104
|
0.00001
|
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn)
|
rs730882101
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu)
|
rs201967266
|
0.00001
|
NM_000527.5(LDLR):c.1489A>G (p.Thr497Ala)
|
rs879254920
|
0.00001
|
NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys)
|
rs766929574
|
0.00001
|
NM_000527.5(LDLR):c.1515C>T (p.Gly505=)
|
rs780757228
|
0.00001
|
NM_000527.5(LDLR):c.153G>C (p.Glu51Asp)
|
rs772188884
|
0.00001
|
NM_000527.5(LDLR):c.1566C>T (p.Ile522=)
|
rs759322565
|
0.00001
|
NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu)
|
rs763884010
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000527.5(LDLR):c.1587-10C>T
|
rs375418317
|
0.00001
|
NM_000527.5(LDLR):c.1587-11C>T
|
rs201957233
|
0.00001
|
NM_000527.5(LDLR):c.1632A>G (p.Lys544=)
|
rs1291759570
|
0.00001
|
NM_000527.5(LDLR):c.1635G>A (p.Gly545=)
|
rs767602284
|
0.00001
|
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu)
|
rs879254976
|
0.00001
|
NM_000527.5(LDLR):c.1662G>A (p.Ser554=)
|
rs151047249
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000527.5(LDLR):c.1776G>T (p.Gly592=)
|
rs1204342348
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp)
|
rs1410295777
|
0.00001
|
NM_000527.5(LDLR):c.1845+11C>T
|
rs370245937
|
0.00001
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
NM_000527.5(LDLR):c.1846-15T>C
|
rs772268064
|
0.00001
|
NM_000527.5(LDLR):c.1854A>G (p.Val618=)
|
rs1248760084
|
0.00001
|
NM_000527.5(LDLR):c.1863A>T (p.Thr621=)
|
rs768509914
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
NM_000527.5(LDLR):c.1911C>T (p.Ser637=)
|
rs373570349
|
0.00001
|
NM_000527.5(LDLR):c.1912G>A (p.Asp638Asn)
|
rs757672647
|
0.00001
|
NM_000527.5(LDLR):c.1929T>C (p.Ala643=)
|
rs2077525125
|
0.00001
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000527.5(LDLR):c.1974C>T (p.Leu658=)
|
rs546153613
|
0.00001
|
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr)
|
rs1182317785
|
0.00001
|
NM_000527.5(LDLR):c.2018G>A (p.Ser673Asn)
|
rs1273197962
|
0.00001
|
NM_000527.5(LDLR):c.2022T>C (p.Asn674=)
|
rs1320831782
|
0.00001
|
NM_000527.5(LDLR):c.2037T>C (p.Tyr679=)
|
rs760436036
|
0.00001
|
NM_000527.5(LDLR):c.2061dup (p.Asn688fs)
|
rs137853965
|
0.00001
|
NM_000527.5(LDLR):c.2088C>T (p.Cys696=)
|
rs112954220
|
0.00001
|
NM_000527.5(LDLR):c.2097G>A (p.Pro699=)
|
rs370835628
|
0.00001
|
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn)
|
rs879255142
|
0.00001
|
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg)
|
rs766903209
|
0.00001
|
NM_000527.5(LDLR):c.2140+11C>T
|
rs780701050
|
0.00001
|
NM_000527.5(LDLR):c.2140+12G>A
|
rs1409963984
|
0.00001
|
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127
|
0.00001
|
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)
|
rs547268730
|
0.00001
|
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile)
|
rs767546791
|
0.00001
|
NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter)
|
rs200793488
|
0.00001
|
NM_000527.5(LDLR):c.2239C>A (p.Pro747Thr)
|
rs1484331319
|
0.00001
|
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)
|
rs879254439
|
0.00001
|
NM_000527.5(LDLR):c.2265C>T (p.Ala755=)
|
rs762453962
|
0.00001
|
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr)
|
rs759440817
|
0.00001
|
NM_000527.5(LDLR):c.2319C>T (p.Gly773=)
|
rs377563758
|
0.00001
|
NM_000527.5(LDLR):c.2322C>T (p.Asp774=)
|
rs746132154
|
0.00001
|
NM_000527.5(LDLR):c.2328T>C (p.Ala776=)
|
rs746838498
|
0.00001
|
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp)
|
rs761683856
|
0.00001
|
NM_000527.5(LDLR):c.2347A>C (p.Lys783Gln)
|
rs769318961
|
0.00001
|
NM_000527.5(LDLR):c.2373C>T (p.Ser791=)
|
rs751216643
|
0.00001
|
NM_000527.5(LDLR):c.2382C>G (p.Leu794=)
|
rs1271856256
|
0.00001
|
NM_000527.5(LDLR):c.2390-3C>T
|
rs755033580
|
0.00001
|
NM_000527.5(LDLR):c.2391G>C (p.Val797=)
|
rs752846235
|
0.00001
|
NM_000527.5(LDLR):c.239A>G (p.Asn80Ser)
|
rs1173004910
|
0.00001
|
NM_000527.5(LDLR):c.2416G>T (p.Val806Phe)
|
rs745429866
|
0.00001
|
NM_000527.5(LDLR):c.2418C>A (p.Val806=)
|
rs771705902
|
0.00001
|
NM_000527.5(LDLR):c.242G>A (p.Arg81His)
|
rs1299591218
|
0.00001
|
NM_000527.5(LDLR):c.2478C>T (p.Pro826=)
|
rs774831273
|
0.00001
|
NM_000527.5(LDLR):c.2499G>T (p.Glu833Asp)
|
rs752936229
|
0.00001
|
NM_000527.5(LDLR):c.2535C>T (p.Tyr845=)
|
rs139796500
|
0.00001
|
NM_000527.5(LDLR):c.2548-12A>G
|
rs771336748
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.286G>A (p.Asp96Asn)
|
rs774858755
|
0.00001
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000527.5(LDLR):c.314-2A>C
|
rs879254470
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080
|
0.00001
|
NM_000527.5(LDLR):c.369T>G (p.Ser123=)
|
rs753900469
|
0.00001
|
NM_000527.5(LDLR):c.42G>C (p.Leu14Phe)
|
rs369608025
|
0.00001
|
NM_000527.5(LDLR):c.432G>A (p.Pro144=)
|
rs769228052
|
0.00001
|
NM_000527.5(LDLR):c.438C>A (p.Leu146=)
|
rs762024743
|
0.00001
|
NM_000527.5(LDLR):c.45C>T (p.Leu15=)
|
rs778389514
|
0.00001
|
NM_000527.5(LDLR):c.480C>T (p.Cys160=)
|
rs751314540
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn)
|
rs139089530
|
0.00001
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
0.00001
|
NM_000527.5(LDLR):c.531G>A (p.Ser177=)
|
rs555158224
|
0.00001
|
NM_000527.5(LDLR):c.543G>A (p.Pro181=)
|
rs766577671
|
0.00001
|
NM_000527.5(LDLR):c.565G>C (p.Val189Leu)
|
rs370820135
|
0.00001
|
NM_000527.5(LDLR):c.585C>T (p.Ser195=)
|
rs756880555
|
0.00001
|
NM_000527.5(LDLR):c.588C>A (p.Pro196=)
|
rs574219590
|
0.00001
|
NM_000527.5(LDLR):c.60G>A (p.Gly20=)
|
rs1276464477
|
0.00001
|
NM_000527.5(LDLR):c.620G>A (p.Gly207Asp)
|
rs759737884
|
0.00001
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
NM_000527.5(LDLR):c.68-9C>G
|
rs1284807471
|
0.00001
|
NM_000527.5(LDLR):c.688A>G (p.Asn230Asp)
|
rs1266776177
|
0.00001
|
NM_000527.5(LDLR):c.694G>A (p.Ala232Thr)
|
rs72658857
|
0.00001
|
NM_000527.5(LDLR):c.711C>T (p.Arg237=)
|
rs780294768
|
0.00001
|
NM_000527.5(LDLR):c.758G>A (p.Arg253Gln)
|
rs139507589
|
0.00001
|
NM_000527.5(LDLR):c.770G>A (p.Arg257Gln)
|
rs757808215
|
0.00001
|
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
NM_000527.5(LDLR):c.783C>T (p.Cys261=)
|
rs1057519663
|
0.00001
|
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly)
|
rs141681167
|
0.00001
|
NM_000527.5(LDLR):c.790A>C (p.Met264Leu)
|
rs730882088
|
0.00001
|
NM_000527.5(LDLR):c.795C>T (p.Ser265=)
|
rs146181232
|
0.00001
|
NM_000527.5(LDLR):c.807C>T (p.Gly269=)
|
rs1421542394
|
0.00001
|
NM_000527.5(LDLR):c.810C>T (p.Cys270=)
|
rs773328511
|
0.00001
|
NM_000527.5(LDLR):c.811G>A (p.Val271Ile)
|
rs749220643
|
0.00001
|
NM_000527.5(LDLR):c.817+5G>C
|
rs770636985
|
0.00001
|
NM_000527.5(LDLR):c.818-15C>G
|
rs79433354
|
0.00001
|
NM_000527.5(LDLR):c.820del (p.Thr274fs)
|
rs751122998
|
0.00001
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
NM_000527.5(LDLR):c.891C>T (p.Asn297=)
|
rs1266870060
|
0.00001
|
NM_000527.5(LDLR):c.908G>A (p.Arg303Gln)
|
rs730882093
|
0.00001
|
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)
|
rs776421777
|
0.00001
|
NM_000527.5(LDLR):c.940+4A>C
|
rs768247312
|
0.00001
|
NM_000527.5(LDLR):c.941-15C>T
|
rs777052696
|
0.00001
|
NM_000527.5(LDLR):c.941-5C>T
|
rs750183389
|
0.00001
|
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser)
|
rs730882094
|
0.00001
|
NM_000527.5(LDLR):c.948C>T (p.Asn316=)
|
rs780673258
|
0.00001
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00001
|
NM_000527.5(LDLR):c.962A>G (p.Asn321Ser)
|
rs2077360926
|
0.00001
|
NM_000527.5(LDLR):c.966C>T (p.Asn322=)
|
rs567080879
|
0.00001
|
NM_000527.5(LDLR):c.969C>T (p.Gly323=)
|
rs199622547
|
0.00001
|
NM_000527.5(LDLR):c.981C>T (p.His327=)
|
rs1060499933
|
0.00001
|
NR_163945.1(LDLR-AS1):n.302G>T
|
rs934415028
|
0.00001
|
NR_163945.1(LDLR-AS1):n.316C>A
|
rs1310257411
|
0.00001
|
FH Aarhus
|
|
|
NM_000527.4(LDLR):c.-101T>C
|
rs747068848
|
|
NM_000527.4(LDLR):c.-107T>C
|
rs1568582310
|
|
NM_000527.4(LDLR):c.-120C>A
|
rs875989886
|
|
NM_000527.4(LDLR):c.-122C>A
|
rs1568582299
|
|
NM_000527.4(LDLR):c.-122C>T
|
rs1568582299
|
|
NM_000527.4(LDLR):c.-133C>T
|
rs2077055227
|
|
NM_000527.4(LDLR):c.-135C>G
|
|
|
NM_000527.4(LDLR):c.-139C>T
|
rs879254371
|
|
NM_000527.4(LDLR):c.-139_-130del
|
rs2077055015
|
|
NM_000527.4(LDLR):c.-142C>G
|
rs879254370
|
|
NM_000527.4(LDLR):c.-166A>G
|
rs1238262444
|
|
NM_000527.4(LDLR):c.-169G>C
|
rs1230170597
|
|
NM_000527.4(LDLR):c.-172G>A
|
rs1555800629
|
|
NM_000527.4(LDLR):c.-88G>A
|
|
|
NM_000527.4(LDLR):c.-89C>T
|
|
|
NM_000527.4(LDLR):c.-94G>T
|
rs1212116636
|
|
NM_000527.4(LDLR):c.-97G>A
|
rs944580031
|
|
NM_000527.4(LDLR):c.-97G>T
|
rs944580031
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.5(LDLR):c.*1A>G
|
rs2077715480
|
|
NM_000527.5(LDLR):c.-23A>G
|
rs763282380
|
|
NM_000527.5(LDLR):c.-45A>T
|
rs2147186240
|
|
NM_000527.5(LDLR):c.-48A>G
|
|
|
NM_000527.5(LDLR):c.-55_-52del
|
rs2077055920
|
|
NM_000527.5(LDLR):c.-74del
|
|
|
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg)
|
rs544453230
|
|
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys)
|
rs879254750
|
|
NM_000527.5(LDLR):c.1010A>G (p.Glu337Gly)
|
rs2077362818
|
|
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)
|
rs2077362782
|
|
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)
|
rs879254753
|
|
NM_000527.5(LDLR):c.1014C>T (p.Cys338=)
|
rs879254755
|
|
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)
|
rs755757866
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr)
|
rs139361635
|
|
NM_000527.5(LDLR):c.1026C>T (p.Asp342=)
|
rs780563386
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)
|
rs875989914
|
|
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
|
|
|
NM_000527.5(LDLR):c.1060+10G>C
|
|
|
NM_000527.5(LDLR):c.1060+10_1060+11delinsCA
|
rs2077364942
|
|
NM_000527.5(LDLR):c.1060+7=
|
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1067A>T (p.Asp356Val)
|
rs879254777
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
NM_000527.5(LDLR):c.1083C>T (p.Pro361=)
|
rs567564778
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
NM_000527.5(LDLR):c.109G>A (p.Gly37Arg)
|
rs2077193497
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
NM_000527.5(LDLR):c.1127A>T (p.Lys376Met)
|
rs2077377185
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
NM_000527.5(LDLR):c.1145G>A (p.Gly382Asp)
|
rs752951310
|
|
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr)
|
rs1402951356
|
|
NM_000527.5(LDLR):c.1169A>G (p.Lys390Arg)
|
rs2077378748
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
|
|
NM_000527.5(LDLR):c.1173C>T (p.Ala391=)
|
|
|
NM_000527.5(LDLR):c.1180G>T (p.Ala394Ser)
|
rs2077379274
|
|
NM_000527.5(LDLR):c.1186+3G>A
|
rs1568601796
|
|
NM_000527.5(LDLR):c.1186+6C>T
|
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
NM_000527.5(LDLR):c.1187G>C (p.Gly396Ala)
|
|
|
NM_000527.5(LDLR):c.1187G>T (p.Gly396Val)
|
rs766474188
|
|
NM_000527.5(LDLR):c.1189T>C (p.Ser397Pro)
|
rs879254825
|
|
NM_000527.5(LDLR):c.1190C>T (p.Ser397Phe)
|
rs2077406646
|
|
NM_000527.5(LDLR):c.1194C>A (p.Ile398=)
|
rs13306498
|
|
NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter)
|
rs879254827
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1224G>A (p.Glu408=)
|
|
|
NM_000527.5(LDLR):c.122C>T (p.Ser41Phe)
|
rs567126042
|
|
NM_000527.5(LDLR):c.1230G>A (p.Arg410=)
|
rs879254839
|
|
NM_000527.5(LDLR):c.1242G>C (p.Leu414=)
|
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
|
|
NM_000527.5(LDLR):c.125A>G (p.Tyr42Cys)
|
rs2077193966
|
|
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg)
|
rs752942769
|
|
NM_000527.5(LDLR):c.1264C>T (p.Leu422Phe)
|
rs2077409172
|
|
NM_000527.5(LDLR):c.1270C>A (p.Pro424Thr)
|
|
|
NM_000527.5(LDLR):c.1271C>T (p.Pro424Leu)
|
rs868801795
|
|
NM_000527.5(LDLR):c.1272C>G (p.Pro424=)
|
rs2147247369
|
|
NM_000527.5(LDLR):c.1281G>A (p.Arg427=)
|
rs1568603617
|
|
NM_000527.5(LDLR):c.1284C>A (p.Asn428Lys)
|
|
|
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)
|
rs368708058
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
NM_000527.5(LDLR):c.1287G>T (p.Val429=)
|
rs2077410111
|
|
NM_000527.5(LDLR):c.1290C>T (p.Val430=)
|
rs1568603661
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
NM_000527.5(LDLR):c.129G>A (p.Lys43=)
|
rs1308223575
|
|
NM_000527.5(LDLR):c.1306G>A (p.Val436Met)
|
rs2147247608
|
|
NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys)
|
rs879254860
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1323C>A (p.Ile441=)
|
rs5933
|
|
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met)
|
rs5933
|
|
NM_000527.5(LDLR):c.132G>C (p.Trp44Cys)
|
rs1555802287
|
|
NM_000527.5(LDLR):c.1335C>T (p.Asp445=)
|
rs749780672
|
|
NM_000527.5(LDLR):c.1336C>T (p.Leu446=)
|
rs375651668
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe)
|
rs761004553
|
|
NM_000527.5(LDLR):c.1368T>A (p.Leu456=)
|
rs2077414640
|
|
NM_000527.5(LDLR):c.1369G>C (p.Asp457His)
|
|
|
NM_000527.5(LDLR):c.1371C>T (p.Asp457=)
|
rs1600727269
|
|
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser)
|
rs193922568
|
|
NM_000527.5(LDLR):c.1392C>T (p.Ser464=)
|
rs762817882
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
|
|
NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn)
|
rs2077416170
|
|
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)
|
rs780316072
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
NM_000527.5(LDLR):c.1440T>G (p.Ala480=)
|
rs2147248763
|
|
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)
|
rs875989921
|
|
NM_000527.5(LDLR):c.144C>A (p.Gly48=)
|
rs1250260327
|
|
NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn)
|
rs879254910
|
|
NM_000527.5(LDLR):c.145A>C (p.Ser49Arg)
|
rs2077194647
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
|
|
NM_000527.5(LDLR):c.1473C>G (p.Thr491=)
|
rs558238642
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)
|
rs137853960
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
NM_000527.5(LDLR):c.1492G>C (p.Val498Leu)
|
|
|
NM_000527.5(LDLR):c.1503G>C (p.Ala501=)
|
rs368889457
|
|
NM_000527.5(LDLR):c.150T>C (p.Ala50=)
|
rs1456739064
|
|
NM_000527.5(LDLR):c.1516G>C (p.Val506Leu)
|
rs373848925
|
|
NM_000527.5(LDLR):c.1533A>G (p.Leu511=)
|
rs1568604780
|
|
NM_000527.5(LDLR):c.1533A>T (p.Leu511Phe)
|
rs1568604780
|
|
NM_000527.5(LDLR):c.1540G>A (p.Glu514Lys)
|
rs1555805507
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
|
|
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg)
|
rs879254938
|
|
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr)
|
rs875989923
|
|
NM_000527.5(LDLR):c.1564A>G (p.Ile522Val)
|
rs774337050
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu)
|
rs763884010
|
|
NM_000527.5(LDLR):c.1579G>A (p.Val527Ile)
|
rs758890891
|
|
NM_000527.5(LDLR):c.1583A>G (p.His528Arg)
|
rs1489999751
|
|
NM_000527.5(LDLR):c.1586+16G>A
|
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
NM_000527.5(LDLR):c.1587-1G>A
|
rs879254948
|
|
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter)
|
rs879254952
|
|
NM_000527.5(LDLR):c.1603G>C (p.Asp535His)
|
|
|
NM_000527.5(LDLR):c.1612A>G (p.Thr538Ala)
|
rs879254960
|
|
NM_000527.5(LDLR):c.1613C>T (p.Thr538Ile)
|
rs776225771
|
|
NM_000527.5(LDLR):c.1615C>T (p.Pro539Ser)
|
rs1222664147
|
|
NM_000527.5(LDLR):c.1631A>C (p.Lys544Thr)
|
rs2077459016
|
|
NM_000527.5(LDLR):c.1638C>A (p.Gly546=)
|
rs1480572702
|
|
NM_000527.5(LDLR):c.1638C>T (p.Gly546=)
|
rs1480572702
|
|
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro)
|
rs879254968
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala)
|
rs28941776
|
|
NM_000527.5(LDLR):c.1649T>G (p.Val550Gly)
|
rs2077459810
|
|
NM_000527.5(LDLR):c.1663C>A (p.Leu555Met)
|
rs2077460352
|
|
NM_000527.5(LDLR):c.1670C>T (p.Thr557Ile)
|
|
|
NM_000527.5(LDLR):c.1683G>A (p.Gln561=)
|
rs2077460841
|
|
NM_000527.5(LDLR):c.1689dup (p.Asn564fs)
|
rs879254988
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
NM_000527.5(LDLR):c.1699A>G (p.Thr567Ala)
|
rs1600733170
|
|
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)
|
rs746959386
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.1706-12T>C
|
|
|
NM_000527.5(LDLR):c.1706-14A>G
|
|
|
NM_000527.5(LDLR):c.1706-1G>A
|
rs879254996
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu)
|
rs777188764
|
|
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe)
|
rs1205480064
|
|
NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter)
|
rs875989928
|
|
NM_000527.5(LDLR):c.1739C>G (p.Ser580Cys)
|
rs934496989
|
|
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe)
|
rs934496989
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg)
|
rs753430282
|
|
NM_000527.5(LDLR):c.1761C>T (p.Ser587=)
|
rs753430282
|
|
NM_000527.5(LDLR):c.1765G>C (p.Asp589His)
|
rs201971888
|
|
NM_000527.5(LDLR):c.1772_1773inv (p.Asn591Ser)
|
|
|
NM_000527.5(LDLR):c.1773_1776delinsT (p.Gly593del)
|
rs2077473508
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.1776G>C (p.Gly592=)
|
rs1204342348
|
|
NM_000527.5(LDLR):c.1777G>T (p.Gly593Cys)
|
rs544456198
|
|
NM_000527.5(LDLR):c.1782C>G (p.Asn594Lys)
|
rs763027570
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.1786A>G (p.Lys596Glu)
|
rs879255021
|
|
NM_000527.5(LDLR):c.1795T>C (p.Leu599=)
|
rs1472402792
|
|
NM_000527.5(LDLR):c.1809G>A (p.Lys603=)
|
|
|
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)
|
rs72658865
|
|
NM_000527.5(LDLR):c.1819C>T (p.His607Tyr)
|
rs1555806536
|
|
NM_000527.5(LDLR):c.181G>A (p.Glu61Lys)
|
rs2077195468
|
|
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu)
|
rs879255035
|
|
NM_000527.5(LDLR):c.1836C>A (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
|
|
|
NM_000527.5(LDLR):c.1845+1G>A
|
rs879255049
|
|
NM_000527.5(LDLR):c.1845+5G>C
|
rs2077476213
|
|
NM_000527.5(LDLR):c.1845+6G>A
|
rs2077476248
|
|
NM_000527.5(LDLR):c.1845+6G>T
|
|
|
NM_000527.5(LDLR):c.1846-10G>A
|
rs368243304
|
|
NM_000527.5(LDLR):c.1846-8C>G
|
rs1600742028
|
|
NM_000527.5(LDLR):c.1846-8C>T
|
rs1600742028
|
|
NM_000527.5(LDLR):c.1846-9C>A
|
rs1568610732
|
|
NM_000527.5(LDLR):c.1848C>T (p.Asp616=)
|
rs2077522347
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1863A>G (p.Thr621=)
|
rs768509914
|
|
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr)
|
rs879255064
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066
|
|
NM_000527.5(LDLR):c.1880C>G (p.Ala627Gly)
|
rs875989934
|
|
NM_000527.5(LDLR):c.1880C>T (p.Ala627Val)
|
rs875989934
|
|
NM_000527.5(LDLR):c.1881C>T (p.Ala627=)
|
rs2147264976
|
|
NM_000527.5(LDLR):c.1888A>G (p.Ser630Gly)
|
rs2077524048
|
|
NM_000527.5(LDLR):c.1889G>C (p.Ser630Thr)
|
rs2077524086
|
|
NM_000527.5(LDLR):c.1890T>G (p.Ser630Arg)
|
rs1292632022
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.191-13G>A
|
|
|
NM_000527.5(LDLR):c.191-15C>A
|
|
|
NM_000527.5(LDLR):c.191-15C>G
|
rs749245318
|
|
NM_000527.5(LDLR):c.191-3T>G
|
rs2077229353
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
NM_000527.5(LDLR):c.1926G>A (p.Leu642=)
|
rs2077525029
|
|
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val)
|
rs879255075
|
|
NM_000527.5(LDLR):c.1936C>T (p.Leu646=)
|
|
|
NM_000527.5(LDLR):c.1939C>T (p.Leu647=)
|
rs1600742572
|
|
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
|
|
|
NM_000527.5(LDLR):c.1948G>A (p.Glu650Lys)
|
rs768724935
|
|
NM_000527.5(LDLR):c.1954A>T (p.Met652Leu)
|
rs730882111
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
NM_000527.5(LDLR):c.1962C>G (p.Leu654=)
|
rs2077526378
|
|
NM_000527.5(LDLR):c.196_197del (p.Val66fs)
|
rs875989889
|
|
NM_000527.5(LDLR):c.1970A>G (p.Asn657Ser)
|
|
|
NM_000527.5(LDLR):c.1980G>A (p.Gln660=)
|
|
|
NM_000527.5(LDLR):c.1987+5G>A
|
rs2077527479
|
|
NM_000527.5(LDLR):c.1987+6G>C
|
rs752382813
|
|
NM_000527.5(LDLR):c.1988-13T>C
|
rs200201131
|
|
NM_000527.5(LDLR):c.1988-5C>T
|
rs375877599
|
|
NM_000527.5(LDLR):c.1995C>T (p.Asn665=)
|
rs2077529992
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer)
|
rs1600743301
|
|
NM_000527.5(LDLR):c.2004G>A (p.Glu668=)
|
rs1408395014
|
|
NM_000527.5(LDLR):c.2007G>A (p.Arg669=)
|
rs1031256388
|
|
NM_000527.5(LDLR):c.2013C>T (p.Thr671=)
|
rs550649956
|
|
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser)
|
rs770744861
|
|
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)
|
rs745753810
|
|
NM_000527.5(LDLR):c.202T>G (p.Cys68Gly)
|
rs1057519652
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2052C>G (p.Ala684=)
|
rs760034984
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
NM_000527.5(LDLR):c.2073G>A (p.Ser691=)
|
rs146869252
|
|
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr)
|
rs776217028
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2103C>T (p.Gly701=)
|
rs2147266491
|
|
NM_000527.5(LDLR):c.2123T>C (p.Met708Thr)
|
rs373839317
|
|
NM_000527.5(LDLR):c.2124GAG[1] (p.Arg709del)
|
rs2077535269
|
|
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly)
|
rs1057519684
|
|
NM_000527.5(LDLR):c.2138C>G (p.Thr713Arg)
|
rs1218776502
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
NM_000527.5(LDLR):c.2141-10A>G
|
rs2147272715
|
|
NM_000527.5(LDLR):c.2141-7C>A
|
rs2147272729
|
|
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys)
|
rs879255149
|
|
NM_000527.5(LDLR):c.2147A>C (p.Glu716Ala)
|
rs2147272755
|
|
NM_000527.5(LDLR):c.2148G>A (p.Glu716=)
|
rs2077583057
|
|
NM_000527.5(LDLR):c.2154A>G (p.Ala718=)
|
rs780348211
|
|
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile)
|
rs879255154
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
NM_000527.5(LDLR):c.2178C>A (p.Thr726=)
|
rs1027266368
|
|
NM_000527.5(LDLR):c.2178C>T (p.Thr726=)
|
rs1027266368
|
|
NM_000527.5(LDLR):c.2180T>A (p.Val727Asp)
|
rs1568614490
|
|
NM_000527.5(LDLR):c.2190G>T (p.Lys730Asn)
|
|
|
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)
|
rs763213863
|
|
NM_000527.5(LDLR):c.2207T>G (p.Val736Gly)
|
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
NM_000527.5(LDLR):c.2224A>G (p.Thr742Ala)
|
rs1568614637
|
|
NM_000527.5(LDLR):c.2227A>G (p.Thr743Ala)
|
rs2147273100
|
|
NM_000527.5(LDLR):c.2228C>T (p.Thr743Ile)
|
|
|
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln)
|
rs1555808091
|
|
NM_000527.5(LDLR):c.2239C>T (p.Pro747Ser)
|
rs1484331319
|
|
NM_000527.5(LDLR):c.2241C>A (p.Pro747=)
|
rs554523758
|
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
|
NM_000527.5(LDLR):c.2247C>T (p.Thr749=)
|
rs2077586087
|
|
NM_000527.5(LDLR):c.2268C>T (p.Thr756=)
|
rs2077586867
|
|
NM_000527.5(LDLR):c.2269C>G (p.Pro757Ala)
|
rs1568614801
|
|
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291
|
|
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
|
|
|
NM_000527.5(LDLR):c.2273G>A (p.Gly758Glu)
|
rs748540948
|
|
NM_000527.5(LDLR):c.2283G>A (p.Thr761=)
|
rs771325747
|
|
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)
|
rs774698247
|
|
NM_000527.5(LDLR):c.2291T>G (p.Ile764Arg)
|
rs759440817
|
|
NM_000527.5(LDLR):c.2298A>G (p.Thr766=)
|
|
|
NM_000527.5(LDLR):c.2307C>T (p.His769=)
|
rs760479588
|
|
NM_000527.5(LDLR):c.2308C>G (p.Gln770Glu)
|
rs763625913
|
|
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
|
|
|
NM_000527.5(LDLR):c.2312-6C>T
|
rs1568618143
|
|
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
|
|
|
NM_000527.5(LDLR):c.2315T>C (p.Leu772Pro)
|
rs754328605
|
|
NM_000527.5(LDLR):c.2330G>T (p.Gly777Val)
|
|
|
NM_000527.5(LDLR):c.2350C>T (p.Pro784Ser)
|
rs2077661446
|
|
NM_000527.5(LDLR):c.2366C>G (p.Ala789Gly)
|
rs1286799492
|
|
NM_000527.5(LDLR):c.2376T>C (p.Ile792=)
|
rs2077662374
|
|
NM_000527.5(LDLR):c.2389+7G>A
|
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.2432A>G (p.Lys811Arg)
|
|
|
NM_000527.5(LDLR):c.2440C>A (p.Arg814=)
|
rs746616623
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2442del (p.Lys816fs)
|
rs2147287002
|
|
NM_000527.5(LDLR):c.244_246del (p.Cys82del)
|
rs1568591929
|
|
NM_000527.5(LDLR):c.2452A>G (p.Ile818Val)
|
rs2147287069
|
|
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)
|
rs879255217
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.2496A>G (p.Thr832=)
|
rs1600765476
|
|
NM_000527.5(LDLR):c.2497G>A (p.Glu833Lys)
|
rs1568619741
|
|
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)
|
rs879255220
|
|
NM_000527.5(LDLR):c.2508C>T (p.Val836=)
|
rs1568619789
|
|
NM_000527.5(LDLR):c.2514T>A (p.Ile838=)
|
rs2077689379
|
|
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp)
|
rs121908037
|
|
NM_000527.5(LDLR):c.2536_2538del (p.Ser846del)
|
|
|
NM_000527.5(LDLR):c.2540A>C (p.Tyr847Ser)
|
rs2077690044
|
|
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)
|
rs377437226
|
|
NM_000527.5(LDLR):c.2547G>A (p.Ser849=)
|
rs1249903899
|
|
NM_000527.5(LDLR):c.2548-19G>A
|
|
|
NM_000527.5(LDLR):c.2561G>A (p.Ser854Asn)
|
rs2077714879
|
|
NM_000527.5(LDLR):c.2561G>C (p.Ser854Thr)
|
rs2077714879
|
|
NM_000527.5(LDLR):c.2563C>A (p.Leu855Met)
|
rs775803775
|
|
NM_000527.5(LDLR):c.2580G>A (p.Ala860=)
|
rs1285017808
|
|
NM_000527.5(LDLR):c.270T>C (p.Asp90=)
|
rs372828849
|
|
NM_000527.5(LDLR):c.279G>A (p.Val93=)
|
|
|
NM_000527.5(LDLR):c.27C>T (p.Arg9=)
|
rs2077057436
|
|
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe)
|
rs879254457
|
|
NM_000527.5(LDLR):c.293G>C (p.Gly98Ala)
|
rs2077232672
|
|
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter)
|
rs377271627
|
|
NM_000527.5(LDLR):c.303del (p.Glu101fs)
|
rs764797225
|
|
NM_000527.5(LDLR):c.30G>A (p.Trp10Ter)
|
rs1568582652
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.313+5G>T
|
rs879254467
|
|
NM_000527.5(LDLR):c.314-6C>G
|
rs2147223016
|
|
NM_000527.5(LDLR):c.317C>G (p.Pro106Arg)
|
rs1365623011
|
|
NM_000527.5(LDLR):c.318C>G (p.Pro106=)
|
rs1218762668
|
|
NM_000527.5(LDLR):c.324G>A (p.Thr108=)
|
rs146517429
|
|
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)
|
rs879254476
|
|
NM_000527.5(LDLR):c.336C>T (p.Asp112=)
|
rs747806084
|
|
NM_000527.5(LDLR):c.340_344del (p.Phe114fs)
|
rs1057516132
|
|
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)
|
rs879254482
|
|
NM_000527.5(LDLR):c.348C>T (p.Cys116=)
|
|
|
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)
|
rs193922571
|
|
NM_000527.5(LDLR):c.364A>C (p.Ile122Leu)
|
|
|
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)
|
rs879254495
|
|
NM_000527.5(LDLR):c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal)
|
rs2077268697
|
|
NM_000527.5(LDLR):c.371G>C (p.Arg124Pro)
|
rs929536329
|
|
NM_000527.5(LDLR):c.375G>A (p.Gln125=)
|
rs2147223505
|
|
NM_000527.5(LDLR):c.380T>C (p.Val127Ala)
|
|
|
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr)
|
rs879254508
|
|
NM_000527.5(LDLR):c.399C>T (p.Asp133=)
|
rs2077269856
|
|
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg)
|
rs875989900
|
|
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)
|
rs879254514
|
|
NM_000527.5(LDLR):c.406G>A (p.Asp136Asn)
|
rs2077270167
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
NM_000527.5(LDLR):c.427T>A (p.Cys143Ser)
|
rs875989901
|
|
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg)
|
rs875989901
|
|
NM_000527.5(LDLR):c.431C>G (p.Pro144Arg)
|
|
|
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu)
|
rs912448894
|
|
NM_000527.5(LDLR):c.432G>C (p.Pro144=)
|
rs769228052
|
|
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)
|
rs879254524
|
|
NM_000527.5(LDLR):c.449C>A (p.Pro150His)
|
|
|
NM_000527.5(LDLR):c.462G>C (p.Gln154His)
|
rs2077272207
|
|
NM_000527.5(LDLR):c.46C>G (p.Leu16Val)
|
rs2077058105
|
|
NM_000527.5(LDLR):c.474C>T (p.Ser158=)
|
rs2147224085
|
|
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)
|
rs879254544
|
|
NM_000527.5(LDLR):c.496G>A (p.Ala166Thr)
|
rs2077273342
|
|
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
|
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
NM_000527.5(LDLR):c.503A>G (p.Asp168Gly)
|
rs879254549
|
|
NM_000527.5(LDLR):c.505_511del (p.Asn169fs)
|
rs1568594903
|
|
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu)
|
rs1060499931
|
|
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)
|
rs769318035
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu)
|
rs879254566
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.543G>T (p.Pro181=)
|
rs766577671
|
|
NM_000527.5(LDLR):c.547C>A (p.Arg183Ser)
|
rs757292254
|
|
NM_000527.5(LDLR):c.547C>T (p.Arg183Cys)
|
rs757292254
|
|
NM_000527.5(LDLR):c.54G>C (p.Ala18=)
|
rs2077058406
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)
|
rs121908034
|
|
NM_000527.5(LDLR):c.567G>C (p.Val189=)
|
rs753329861
|
|
NM_000527.5(LDLR):c.56C>G (p.Ala19Gly)
|
rs879254392
|
|
NM_000527.5(LDLR):c.56C>T (p.Ala19Val)
|
rs879254392
|
|
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg)
|
rs730882085
|
|
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)
|
rs730882085
|
|
NM_000527.5(LDLR):c.593C>T (p.Ser198Leu)
|
rs748672083
|
|
NM_000527.5(LDLR):c.597C>T (p.Ala199=)
|
rs749351012
|
|
NM_000527.5(LDLR):c.59G>A (p.Gly20Glu)
|
rs1568582750
|
|
NM_000527.5(LDLR):c.603G>A (p.Glu201=)
|
|
|
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)
|
rs879254597
|
|
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)
|
rs879254600
|
|
NM_000527.5(LDLR):c.635C>T (p.Ser212Phe)
|
rs1435097227
|
|
NM_000527.5(LDLR):c.636C>T (p.Ser212=)
|
rs538030445
|
|
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr)
|
rs879254604
|
|
NM_000527.5(LDLR):c.639C>G (p.Ser213Arg)
|
rs760616999
|
|
NM_000527.5(LDLR):c.650A>G (p.Asp217Gly)
|
rs2077279531
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.653del (p.Gly218fs)
|
rs137853966
|
|
NM_000527.5(LDLR):c.658C>T (p.Pro220Ser)
|
rs2077280086
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.663C>G (p.Asp221Glu)
|
rs2077280675
|
|
NM_000527.5(LDLR):c.666C>T (p.Cys222=)
|
rs756613387
|
|
NM_000527.5(LDLR):c.67+5G>T
|
rs372349543
|
|
NM_000527.5(LDLR):c.67+6G>A
|
rs1369961980
|
|
NM_000527.5(LDLR):c.67+6G>T
|
|
|
NM_000527.5(LDLR):c.677_681dup (p.Glu228fs)
|
rs2077282376
|
|
NM_000527.5(LDLR):c.68-13T>G
|
|
|
NM_000527.5(LDLR):c.68-4T>C
|
rs2077192055
|
|
NM_000527.5(LDLR):c.68-8T>C
|
rs2077191949
|
|
NM_000527.5(LDLR):c.680_682delinsCA (p.Asp227fs)
|
rs879254637
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NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
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NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
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NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
|
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NM_000527.5(LDLR):c.689A>T (p.Asn230Ile)
|
rs2077283326
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NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
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|
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NM_000527.5(LDLR):c.693C>T (p.Cys231=)
|
|
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NM_000527.5(LDLR):c.694+1G>A
|
rs879254646
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NM_000527.5(LDLR):c.694+6G>A
|
rs1019330092
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NM_000527.5(LDLR):c.694+8_694+18del
|
rs777512182
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NM_000527.5(LDLR):c.695-10T>C
|
rs778975482
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NM_000527.5(LDLR):c.695-10T>G
|
|
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NM_000527.5(LDLR):c.695-3C>T
|
rs745897889
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NM_000527.5(LDLR):c.695-5T>A
|
|
|
NM_000527.5(LDLR):c.695-9G>A
|
rs1453690068
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NM_000527.5(LDLR):c.6del (p.Trp4fs)
|
rs875989888
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|
NM_000527.5(LDLR):c.712C>G (p.Pro238Ala)
|
rs376963526
|
|
NM_000527.5(LDLR):c.750T>C (p.His250=)
|
rs141929940
|
|
NM_000527.5(LDLR):c.752G>A (p.Gly251Asp)
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.759G>A (p.Arg253=)
|
rs2077299486
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|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000527.5(LDLR):c.776A>C (p.Tyr259Ser)
|
rs2077300176
|
|
NM_000527.5(LDLR):c.792G>A (p.Met264Ile)
|
rs1200173530
|
|
NM_000527.5(LDLR):c.79_81delinsCGT (p.Cys27Arg)
|
rs2077192500
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr)
|
rs879254683
|
|
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr)
|
rs202213054
|
|
NM_000527.5(LDLR):c.816T>C (p.Asn272=)
|
rs1329690965
|
|
NM_000527.5(LDLR):c.817+6C>T
|
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
NM_000527.5(LDLR):c.818-5C>T
|
|
|
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)
|
rs2228671
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
|
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.86del (p.Arg29fs)
|
|
|
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
|
|
|
NM_000527.5(LDLR):c.893T>C (p.Met298Thr)
|
|
|
NM_000527.5(LDLR):c.899G>A (p.Arg300Lys)
|
rs2077313724
|
|
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917
|
|
NM_000527.5(LDLR):c.922G>T (p.Glu308Ter)
|
rs879254721
|
|
NM_000527.5(LDLR):c.924A>G (p.Glu308=)
|
rs1057519664
|
|
NM_000527.5(LDLR):c.928A>T (p.Ile310Phe)
|
|
|
NM_000527.5(LDLR):c.929T>A (p.Ile310Asn)
|
rs879254722
|
|
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254
|
|
NM_000527.5(LDLR):c.932_933del (p.Lys311fs)
|
rs879254723
|
|
NM_000527.5(LDLR):c.936G>T (p.Glu312Asp)
|
rs2077315472
|
|
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)
|
rs875989910
|
|
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter)
|
rs13306512
|
|
NM_000527.5(LDLR):c.940+3G>A
|
rs1568598062
|
|
NM_000527.5(LDLR):c.940+3_940+6del
|
rs2077315885
|
|
NM_000527.5(LDLR):c.940+9C>T
|
|
|
NM_000527.5(LDLR):c.941-11G>T
|
|
|
NM_000527.5(LDLR):c.941-4G>A
|
|
|
NM_000527.5(LDLR):c.944C>T (p.Thr315Ile)
|
rs2077360211
|
|
NM_000527.5(LDLR):c.948C>G (p.Asn316Lys)
|
rs780673258
|
|
NM_000527.5(LDLR):c.951A>G (p.Glu317=)
|
rs1568600233
|
|
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
|
|
|
NM_000527.5(LDLR):c.966C>A (p.Asn322Lys)
|
rs567080879
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_000527.5(LDLR):c.970G>T (p.Gly324Cys)
|
rs72658860
|
|
NM_000527.5(LDLR):c.973T>C (p.Cys325Arg)
|
rs1568600328
|
|
NM_000527.5(LDLR):c.979del (p.His327fs)
|
rs2077361581
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|
NM_000527.5(LDLR):c.980A>C (p.His327Pro)
|
rs2077361686
|
|
NM_000527.5(LDLR):c.982G>A (p.Val328Ile)
|
rs768925824
|
|
NM_000527.5(LDLR):c.988A>G (p.Asn330Asp)
|
rs730882095
|
|
NM_000527.5(LDLR):c.990T>A (p.Asn330Lys)
|
rs1568600400
|
|
NR_163945.1(LDLR-AS1):n.308C>T
|
rs2077054310
|
|
NR_163945.1(LDLR-AS1):n.328G>C
|
rs17249141
|
|