NM_000527.5(LDLR):c.2312-136A>G
|
rs2569538
|
0.86836
|
NM_000527.5(LDLR):c.*315G>C
|
rs2738464
|
0.80309
|
NM_000527.5(LDLR):c.*666T>C
|
rs1433099
|
0.65588
|
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.*504G>A
|
rs2738465
|
0.29077
|
NM_000527.5(LDLR):c.*773A>G
|
rs2738466
|
0.22642
|
NM_000527.5(LDLR):c.1705+56C>T
|
rs4508523
|
0.21747
|
NM_000527.5(LDLR):c.1725C>T (p.Leu575=)
|
rs1799898
|
0.11001
|
NM_000527.5(LDLR):c.190+56G>A
|
rs3745677
|
0.09858
|
NM_000527.5(LDLR):c.*141G>A
|
rs3826810
|
0.06460
|
NM_000527.5(LDLR):c.90C>T (p.Asn30=)
|
rs72658855
|
0.00965
|
NC_000019.10:g.11089281G>T
|
rs17249134
|
0.00679
|
NM_000527.5(LDLR):c.2389+57C>T
|
rs145293532
|
0.00605
|
NC_000019.10:g.11089332C>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.1060+40G>A
|
rs192390193
|
0.00260
|
NM_000527.5(LDLR):c.*13A>G
|
rs72658871
|
0.00255
|
NM_000527.5(LDLR):c.*517C>A
|
rs115882455
|
0.00227
|
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.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.643C>T (p.Arg215Cys)
|
rs764042910
|
0.00011
|
NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys)
|
rs879254934
|
0.00009
|
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.2358C>T (p.Ser786=)
|
rs183255090
|
0.00008
|
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)
|
rs200142970
|
0.00007
|
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)
|
rs759109699
|
0.00007
|
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)
|
rs780563386
|
0.00006
|
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.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.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.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.979C>T (p.His327Tyr)
|
rs747507019
|
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.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.1358+7G>A
|
rs369709333
|
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.1868T>C (p.Ile623Thr)
|
rs141155833
|
0.00004
|
NM_000527.5(LDLR):c.190T>C (p.Leu64=)
|
rs761629258
|
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.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.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000527.5(LDLR):c.817+14A>G
|
rs201875602
|
0.00004
|
NC_000019.10:g.11089263C>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.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.1383C>T (p.Gly461=)
|
rs764929176
|
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.1954A>G (p.Met652Val)
|
rs730882111
|
0.00003
|
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala)
|
rs780300776
|
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.292G>A (p.Gly98Ser)
|
rs750474121
|
0.00003
|
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292
|
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.514G>A (p.Asp172Asn)
|
rs879254554
|
0.00003
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
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_000527.5(LDLR):c.986G>A (p.Cys329Tyr)
|
rs761954844
|
0.00003
|
NC_000019.10:g.11089396C>T
|
rs879254366
|
0.00002
|
NC_000019.10:g.11089410C>G
|
rs879254371
|
0.00002
|
NM_000527.5(LDLR):c.-13A>G
|
rs376011618
|
0.00002
|
NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln)
|
rs875989914
|
0.00002
|
NM_000527.5(LDLR):c.1065C>T (p.Ile355=)
|
rs960032925
|
0.00002
|
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)
|
rs767767730
|
0.00002
|
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg)
|
rs746982741
|
0.00002
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu)
|
rs749780672
|
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.1588T>G (p.Phe530Val)
|
rs875989924
|
0.00002
|
NM_000527.5(LDLR):c.1706-21_1706-19del
|
rs386134242
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.1733T>C (p.Val578Ala)
|
rs72658864
|
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.2050G>A (p.Ala684Thr)
|
rs774730452
|
0.00002
|
NM_000527.5(LDLR):c.2100C>T (p.Asp700=)
|
rs759858813
|
0.00002
|
NM_000527.5(LDLR):c.2307C>G (p.His769Gln)
|
rs760479588
|
0.00002
|
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro)
|
rs879255203
|
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.408C>T (p.Asp136=)
|
rs759738744
|
0.00002
|
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp)
|
rs201384282
|
0.00002
|
NM_000527.5(LDLR):c.993C>T (p.Asp331=)
|
rs147905921
|
0.00002
|
NC_000019.10:g.11089429C>T
|
rs875989886
|
0.00001
|
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp)
|
rs869320650
|
0.00001
|
NM_000527.5(LDLR):c.1020C>G (p.Cys340Trp)
|
rs777524402
|
0.00001
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
NM_000527.5(LDLR):c.1060+18C>A
|
rs780579614
|
0.00001
|
NM_000527.5(LDLR):c.1060+2T>G
|
rs774069731
|
0.00001
|
NM_000527.5(LDLR):c.1061-1G>C
|
rs879254774
|
0.00001
|
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val)
|
rs879254776
|
0.00001
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val)
|
rs879254808
|
0.00001
|
NM_000527.5(LDLR):c.1186+10G>C
|
rs781336025
|
0.00001
|
NM_000527.5(LDLR):c.1186+5G>C
|
rs879254821
|
0.00001
|
NM_000527.5(LDLR):c.1187G>A (p.Gly396Asp)
|
rs766474188
|
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.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
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.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.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.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
NM_000527.5(LDLR):c.1515C>T (p.Gly505=)
|
rs780757228
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp)
|
rs878854025
|
0.00001
|
NM_000527.5(LDLR):c.1587-11C>T
|
rs201957233
|
0.00001
|
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys)
|
rs2077458389
|
0.00001
|
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)
|
rs759876319
|
0.00001
|
NM_000527.5(LDLR):c.1658A>G (p.Tyr553Cys)
|
rs879254974
|
0.00001
|
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu)
|
rs879254976
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
|
rs138947766
|
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.1822C>T (p.Pro608Ser)
|
rs879255034
|
0.00001
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
NM_000527.5(LDLR):c.1846-1G>A
|
rs879255051
|
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.1906G>A (p.Gly636Ser)
|
rs764550980
|
0.00001
|
NM_000527.5(LDLR):c.1911C>T (p.Ser637=)
|
rs373570349
|
0.00001
|
NM_000527.5(LDLR):c.1943C>T (p.Ser648Phe)
|
rs1555807266
|
0.00001
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn)
|
rs879255094
|
0.00001
|
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)
|
rs775092314
|
0.00001
|
NM_000527.5(LDLR):c.2097G>A (p.Pro699=)
|
rs370835628
|
0.00001
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
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.2140G>T (p.Glu714Ter)
|
rs869320652
|
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.223T>A (p.Cys75Ser)
|
rs879254439
|
0.00001
|
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr)
|
rs759440817
|
0.00001
|
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp)
|
rs761683856
|
0.00001
|
NM_000527.5(LDLR):c.2391G>C (p.Val797=)
|
rs752846235
|
0.00001
|
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn)
|
rs1399689294
|
0.00001
|
NM_000527.5(LDLR):c.2529C>T (p.Asp843=)
|
rs374635484
|
0.00001
|
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser)
|
rs1555809614
|
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.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.325T>C (p.Cys109Arg)
|
rs140807148
|
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.378C>T (p.Phe126=)
|
rs762139262
|
0.00001
|
NM_000527.5(LDLR):c.392A>G (p.Asp131Gly)
|
rs730882081
|
0.00001
|
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala)
|
rs1317204420
|
0.00001
|
NM_000527.5(LDLR):c.447T>C (p.Gly149=)
|
rs765386678
|
0.00001
|
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro)
|
rs763233960
|
0.00001
|
NM_000527.5(LDLR):c.48C>A (p.Leu16=)
|
rs565675103
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu)
|
rs777321035
|
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.584G>A (p.Ser195Asn)
|
rs879254583
|
0.00001
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
NM_000527.5(LDLR):c.68-9C>G
|
rs1284807471
|
0.00001
|
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys)
|
rs879254657
|
0.00001
|
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys)
|
rs1208667598
|
0.00001
|
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr)
|
rs879254665
|
0.00001
|
NM_000527.5(LDLR):c.774A>G (p.Glu258=)
|
rs1307291980
|
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.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg)
|
rs879254682
|
0.00001
|
NM_000527.5(LDLR):c.811G>A (p.Val271Ile)
|
rs749220643
|
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.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
NM_000527.5(LDLR):c.889A>C (p.Asn297His)
|
rs879254709
|
0.00001
|
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)
|
rs767618089
|
0.00001
|
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)
|
rs776421777
|
0.00001
|
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr)
|
rs761765254
|
0.00001
|
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)
|
rs875989911
|
0.00001
|
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser)
|
rs730882094
|
0.00001
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00001
|
NM_000527.5(LDLR):c.981C>T (p.His327=)
|
rs1060499933
|
0.00001
|
FH Bologna 2
|
|
|
FH Cape Town 2
|
|
|
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
|
|
|
NC_000019.10:g.11089334A>G
|
rs879254360
|
|
NC_000019.10:g.11089341A>T
|
rs879254361
|
|
NC_000019.10:g.11089393C>T
|
rs879254364
|
|
NC_000019.10:g.11089394_11089395delinsTTCTGCAAACTCCT
|
rs879254365
|
|
NC_000019.10:g.11089397C>T
|
|
|
NC_000019.10:g.11089400C>A
|
rs879254368
|
|
NC_000019.10:g.11089407C>G
|
rs879254370
|
|
NC_000019.10:g.11089409C>G
|
rs875989887
|
|
NC_000019.10:g.11089409C>T
|
rs875989887
|
|
NC_000019.10:g.11089411T>C
|
rs879254372
|
|
NC_000019.10:g.11089411del
|
rs387906307
|
|
NC_000019.10:g.11089413C>G
|
rs879254374
|
|
NC_000019.10:g.11089413C>T
|
rs879254374
|
|
NC_000019.10:g.11089414C>G
|
|
|
NC_000019.10:g.11089448T>C
|
rs747068848
|
|
NC_000019.10:g.11089452G>A
|
rs944580031
|
|
NC_000019.10:g.11089461G>A
|
|
|
NC_000019.9:g.(?_11215876)_(11222335_?)dup
|
|
|
NG_009060.1(LDLR):g.15965TG[3]
|
|
|
NG_009060.1(LDLR):g.4976CTC[2]
|
rs1270618112
|
|
NM_000527.4(LDLR):c.-139_-130delCTCCCCCTGC
|
rs2077055015
|
|
NM_000527.4(LDLR):c.-140C>A
|
|
|
NM_000527.4(LDLR):c.-172G>A
|
rs1555800629
|
|
NM_000527.4(LDLR):c.-97G>T
|
rs944580031
|
|
NM_000527.4(LDLR):c.1587-?_2140+?del
|
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.4(LDLR):c.191-?_940+?del
|
|
|
NM_000527.4(LDLR):c.2312-?_2547+?del
|
|
|
NM_000527.4(LDLR):c.2390-?_2547+?del
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)
|
rs387906306
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
NM_000527.4(LDLR):c.695-?_817+?del
|
|
|
NM_000527.4(LDLR):c.941-?_1060+?del
|
|
|
NM_000527.4(LDLR):c.941-?_1586+?del
|
|
|
NM_000527.5(LDLR):c.-188C>T
|
rs878854023
|
|
NM_000527.5(LDLR):c.-36T>G
|
rs879254378
|
|
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg)
|
rs544453230
|
|
NM_000527.5(LDLR):c.1003G>T (p.Gly335Cys)
|
rs544453230
|
|
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val)
|
rs869320650
|
|
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys)
|
rs879254750
|
|
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly)
|
rs879254405
|
|
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>A (p.Cys338Ser)
|
rs879254753
|
|
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)
|
rs879254753
|
|
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
|
|
|
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
|
|
|
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)
|
rs755757866
|
|
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)
|
rs879254758
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr)
|
rs139361635
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1027G>T (p.Gly343Cys)
|
rs730882096
|
|
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp)
|
rs879254760
|
|
NM_000527.5(LDLR):c.1028G>T (p.Gly343Val)
|
rs879254760
|
|
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter)
|
rs748300548
|
|
NM_000527.5(LDLR):c.1045del (p.Gln349fs)
|
rs879254765
|
|
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)
|
rs875989914
|
|
NM_000527.5(LDLR):c.1054T>C (p.Cys352Arg)
|
rs879254769
|
|
NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe)
|
rs193922566
|
|
NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter)
|
rs13306515
|
|
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp)
|
rs13306515
|
|
NM_000527.5(LDLR):c.1056_1060+3del
|
rs879254770
|
|
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
|
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
NM_000527.5(LDLR):c.1060+10G>C
|
|
|
NM_000527.5(LDLR):c.1060+7=
|
|
|
NM_000527.5(LDLR):c.1061-1G>A
|
rs879254774
|
|
NM_000527.5(LDLR):c.1061-2A>G
|
rs879254773
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1066G>C (p.Asp356His)
|
rs767767730
|
|
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)
|
rs767767730
|
|
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.1070A>G (p.Glu357Gly)
|
rs753248521
|
|
NM_000527.5(LDLR):c.1072T>C (p.Cys358Arg)
|
rs879254783
|
|
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)
|
rs875989915
|
|
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn)
|
rs200533979
|
|
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu)
|
rs373144619
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr)
|
rs879254788
|
|
NM_000527.5(LDLR):c.1092C>T (p.Cys364=)
|
rs1555804729
|
|
NM_000527.5(LDLR):c.1098_1109del (p.Gln366_Asn370delinsHis)
|
rs878854024
|
|
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)
|
rs879254791
|
|
NM_000527.5(LDLR):c.1102T>G (p.Cys368Gly)
|
rs879254791
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser)
|
rs768430352
|
|
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr)
|
rs879254792
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
|
|
NM_000527.5(LDLR):c.1118G>T (p.Gly373Val)
|
rs879254797
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)
|
rs879254800
|
|
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr)
|
rs879254801
|
|
NM_000527.5(LDLR):c.1134G>A (p.Gln378=)
|
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr)
|
rs879254804
|
|
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val)
|
rs752951310
|
|
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro)
|
rs879254807
|
|
NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro)
|
rs879254809
|
|
NM_000527.5(LDLR):c.1154T>G (p.Leu385Arg)
|
rs879254809
|
|
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr)
|
rs1402951356
|
|
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu)
|
rs879254810
|
|
NM_000527.5(LDLR):c.115T>C (p.Cys39Arg)
|
rs1555802275
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
|
|
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg)
|
rs879254814
|
|
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
|
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
NM_000527.5(LDLR):c.1185G>C (p.Val395=)
|
rs879254818
|
|
NM_000527.5(LDLR):c.1186+11G>A
|
rs879254822
|
|
NM_000527.5(LDLR):c.1186+1G>A
|
rs730880131
|
|
NM_000527.5(LDLR):c.1186+1G>T
|
rs730880131
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser)
|
rs879254820
|
|
NM_000527.5(LDLR):c.1186G>C (p.Gly396Arg)
|
rs879254820
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
NM_000527.5(LDLR):c.1187-1G>A
|
rs879254824
|
|
NM_000527.5(LDLR):c.1187-1G>T
|
rs879254824
|
|
NM_000527.5(LDLR):c.1187-2A>G
|
rs879254823
|
|
NM_000527.5(LDLR):c.1189T>A (p.Ser397Thr)
|
rs879254825
|
|
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)
|
rs875989918
|
|
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del)
|
rs879254826
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.1202T>A (p.Leu401His)
|
rs121908038
|
|
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del)
|
rs879254830
|
|
NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs)
|
rs879254829
|
|
NM_000527.5(LDLR):c.1207T>C (p.Phe403Leu)
|
rs879254831
|
|
NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro)
|
rs879254834
|
|
NM_000527.5(LDLR):c.1210A>T (p.Thr404Ser)
|
|
|
NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile)
|
rs879254835
|
|
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys)
|
rs879254837
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro)
|
rs552422789
|
|
NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln)
|
rs137943601
|
|
NM_000527.5(LDLR):c.1223A>C (p.Glu408Ala)
|
rs879254838
|
|
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val)
|
rs879254838
|
|
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser)
|
rs879254839
|
|
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr)
|
rs879254842
|
|
NM_000527.5(LDLR):c.1243G>C (p.Asp415His)
|
rs879254844
|
|
NM_000527.5(LDLR):c.1244A>G (p.Asp415Gly)
|
rs879254845
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro)
|
rs773658037
|
|
NM_000527.5(LDLR):c.1247G>T (p.Arg416Leu)
|
rs773658037
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
|
|
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His)
|
rs879254847
|
|
NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp)
|
rs879254847
|
|
NM_000527.5(LDLR):c.1265T>C (p.Leu422Pro)
|
rs879254848
|
|
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr)
|
rs879254849
|
|
NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile)
|
rs879254850
|
|
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1284C>A (p.Asn428Lys)
|
|
|
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)
|
rs368708058
|
|
NM_000527.5(LDLR):c.1284del (p.Asn428fs)
|
rs2077409930
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu)
|
rs28942078
|
|
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu)
|
rs28942078
|
|
NM_000527.5(LDLR):c.1288G>C (p.Val430Leu)
|
rs879254853
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)
|
rs28942079
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro)
|
rs879254855
|
|
NM_000527.5(LDLR):c.1297G>C (p.Asp433His)
|
rs121908036
|
|
NM_000527.5(LDLR):c.1297G>T (p.Asp433Tyr)
|
rs121908036
|
|
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro)
|
rs1555805237
|
|
NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys)
|
rs745343524
|
|
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg)
|
rs745343524
|
|
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly)
|
rs879254861
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
NM_000527.5(LDLR):c.1322T>A (p.Ile441Asn)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met)
|
rs5933
|
|
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His)
|
rs879254863
|
|
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys)
|
rs879254864
|
|
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg)
|
rs773566855
|
|
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser)
|
rs879254866
|
|
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys)
|
rs879254867
|
|
NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro)
|
rs875989919
|
|
NM_000527.5(LDLR):c.1336C>T (p.Leu446=)
|
rs375651668
|
|
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys)
|
rs879254870
|
|
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
|
|
|
NM_000527.5(LDLR):c.1358+10G>A
|
|
|
NM_000527.5(LDLR):c.1358+1G>A
|
rs775924858
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
NM_000527.5(LDLR):c.1358+2T>C
|
rs193922567
|
|
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe)
|
rs761004553
|
|
NM_000527.5(LDLR):c.1367T>A (p.Leu456His)
|
rs200143634
|
|
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly)
|
rs879254415
|
|
NM_000527.5(LDLR):c.137G>C (p.Cys46Ser)
|
rs121908041
|
|
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser)
|
rs193922568
|
|
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys)
|
rs879254889
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
|
|
NM_000527.5(LDLR):c.139G>C (p.Asp47His)
|
rs778284147
|
|
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del)
|
rs387906301
|
|
NM_000527.5(LDLR):c.1400C>T (p.Thr467Ile)
|
rs754411636
|
|
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp)
|
rs879254890
|
|
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly)
|
rs1057516128
|
|
NM_000527.5(LDLR):c.1412G>A (p.Arg471Lys)
|
rs1131692207
|
|
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)
|
rs730882102
|
|
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs)
|
rs879254892
|
|
NM_000527.5(LDLR):c.1417A>G (p.Ile473Val)
|
rs879254894
|
|
NM_000527.5(LDLR):c.1418T>A (p.Ile473Asn)
|
rs879254895
|
|
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val)
|
rs879254897
|
|
NM_000527.5(LDLR):c.1426C>T (p.Pro476Ser)
|
rs879254898
|
|
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)
|
rs780316072
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
NM_000527.5(LDLR):c.1433G>A (p.Gly478Glu)
|
rs1555805380
|
|
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro)
|
rs879254900
|
|
NM_000527.5(LDLR):c.1438G>A (p.Ala480Thr)
|
rs879254901
|
|
NM_000527.5(LDLR):c.1441G>A (p.Val481Met)
|
rs879254903
|
|
NM_000527.5(LDLR):c.1444G>T (p.Asp482Tyr)
|
rs139624145
|
|
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg)
|
rs879254905
|
|
NM_000527.5(LDLR):c.1448G>T (p.Trp483Leu)
|
rs875989921
|
|
NM_000527.5(LDLR):c.1449G>C (p.Trp483Cys)
|
rs879254907
|
|
NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys)
|
rs879254907
|
|
NM_000527.5(LDLR):c.1455C>G (p.His485Gln)
|
rs879254908
|
|
NM_000527.5(LDLR):c.1456A>G (p.Ser486Gly)
|
rs879254909
|
|
NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn)
|
rs879254910
|
|
NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser)
|
rs879254912
|
|
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn)
|
rs879254913
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
|
|
NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys)
|
rs879254914
|
|
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter)
|
rs370777955
|
|
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)
|
rs730880130
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)
|
rs879254918
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs)
|
rs869025454
|
|
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.1495T>C (p.Ser499Pro)
|
rs879254921
|
|
NM_000527.5(LDLR):c.1496_1497del (p.Ser499fs)
|
rs879254922
|
|
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu)
|
rs755667663
|
|
NM_000527.5(LDLR):c.1504G>T (p.Asp502Tyr)
|
rs879254925
|
|
NM_000527.5(LDLR):c.1520A>C (p.Lys507Thr)
|
rs879254929
|
|
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu)
|
rs879254931
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
|
|
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro)
|
rs879254936
|
|
NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu)
|
rs879254937
|
|
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.1558A>G (p.Arg520Gly)
|
rs879254939
|
|
NM_000527.5(LDLR):c.155G>A (p.Cys52Tyr)
|
rs879254418
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu)
|
rs28942080
|
|
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)
|
|
|
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
|
|
|
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val)
|
rs879254943
|
|
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr)
|
rs730882106
|
|
NM_000527.5(LDLR):c.1577C>A (p.Pro526His)
|
rs879254944
|
|
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg)
|
rs879254944
|
|
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
|
|
|
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
|
|
|
NM_000527.5(LDLR):c.1586+12C>T
|
|
|
NM_000527.5(LDLR):c.1586+16G>A
|
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
NM_000527.5(LDLR):c.1586+1G>T
|
rs755389753
|
|
NM_000527.5(LDLR):c.1586+2T>A
|
rs879254945
|
|
NM_000527.5(LDLR):c.1586+2T>C
|
rs879254945
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
NM_000527.5(LDLR):c.1587-1G>A
|
rs879254948
|
|
NM_000527.5(LDLR):c.1587-2A>T
|
rs879254947
|
|
NM_000527.5(LDLR):c.1587-3C>G
|
|
|
NM_000527.5(LDLR):c.1592T>C (p.Met531Thr)
|
|
|
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg)
|
rs779913921
|
|
NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg)
|
rs879254951
|
|
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter)
|
rs746939188
|
|
NM_000527.5(LDLR):c.1600_1608del (p.Thr534_Trp536del)
|
rs879254953
|
|
NM_000527.5(LDLR):c.1601C>A (p.Thr534Asn)
|
rs879254954
|
|
NM_000527.5(LDLR):c.1603G>T (p.Asp535Tyr)
|
rs879254955
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser)
|
rs769370816
|
|
NM_000527.5(LDLR):c.1625T>G (p.Ile542Ser)
|
rs879254962
|
|
NM_000527.5(LDLR):c.1629_1652del (p.Lys543_Asp551delinsAsn)
|
rs879254963
|
|
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg)
|
rs879254965
|
|
NM_000527.5(LDLR):c.1633G>C (p.Gly545Arg)
|
rs879254965
|
|
NM_000527.5(LDLR):c.1636G>C (p.Gly546Arg)
|
rs879254966
|
|
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
|
|
|
NM_000527.5(LDLR):c.1637G>T (p.Gly546Val)
|
rs28942081
|
|
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.1646G>T (p.Gly549Val)
|
rs28941776
|
|
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del)
|
rs1555806019
|
|
NM_000527.5(LDLR):c.1659C>G (p.Tyr553Ter)
|
rs564258872
|
|
NM_000527.5(LDLR):c.166T>C (p.Ser56Pro)
|
rs878854026
|
|
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe)
|
rs1131692213
|
|
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup)
|
rs879254983
|
|
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)
|
rs879254985
|
|
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys)
|
rs879254985
|
|
NM_000527.5(LDLR):c.1688C>A (p.Pro563His)
|
rs879254987
|
|
NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del)
|
rs879254421
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala)
|
rs28942082
|
|
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.169G>A (p.Asp57Asn)
|
rs879254420
|
|
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)
|
rs746959386
|
|
NM_000527.5(LDLR):c.1703T>C (p.Leu568Pro)
|
rs879254991
|
|
NM_000527.5(LDLR):c.1705+1G>A
|
rs875989926
|
|
NM_000527.5(LDLR):c.1705+1G>C
|
rs875989926
|
|
NM_000527.5(LDLR):c.1705+1G>T
|
rs875989926
|
|
NM_000527.5(LDLR):c.1705+2_1705+3insC
|
rs879254994
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.1706-1G>A
|
rs879254996
|
|
NM_000527.5(LDLR):c.1706-1G>T
|
rs879254996
|
|
NM_000527.5(LDLR):c.1706-2A>C
|
rs878854027
|
|
NM_000527.5(LDLR):c.1706-2A>T
|
rs878854027
|
|
NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn)
|
rs879254997
|
|
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.1724T>C (p.Leu575Pro)
|
rs1249568272
|
|
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys)
|
rs879254999
|
|
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg)
|
rs879255000
|
|
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly)
|
rs879255000
|
|
NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)
|
rs879254423
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys)
|
rs875989928
|
|
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys)
|
rs875989928
|
|
NM_000527.5(LDLR):c.1732G>T (p.Val578Phe)
|
rs1301458707
|
|
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn)
|
rs875989929
|
|
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr)
|
rs875989929
|
|
NM_000527.5(LDLR):c.1738T>C (p.Ser580Pro)
|
rs1057519675
|
|
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe)
|
rs934496989
|
|
NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe)
|
rs1131692216
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro)
|
rs879255010
|
|
NM_000527.5(LDLR):c.1754T>A (p.Ile585Asn)
|
rs879255012
|
|
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg)
|
rs753430282
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.1784G>T (p.Arg595Leu)
|
rs201102492
|
|
NM_000527.5(LDLR):c.1792A>C (p.Ile598Leu)
|
rs879255023
|
|
NM_000527.5(LDLR):c.1793T>A (p.Ile598Asn)
|
rs879255024
|
|
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)
|
rs879255025
|
|
NM_000527.5(LDLR):c.1796T>G (p.Leu599Trp)
|
rs879255025
|
|
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
|
|
|
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
|
|
|
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.1808dup (p.Arg604fs)
|
rs1555806526
|
|
NM_000527.5(LDLR):c.1813C>T (p.Leu605=)
|
rs879255031
|
|
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro)
|
rs875989932
|
|
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)
|
rs72658865
|
|
NM_000527.5(LDLR):c.1820A>G (p.His607Arg)
|
rs879255033
|
|
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu)
|
rs879255035
|
|
NM_000527.5(LDLR):c.1825T>C (p.Phe609Leu)
|
rs879255036
|
|
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro)
|
rs2077475503
|
|
NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys)
|
rs879255038
|
|
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe)
|
rs879255038
|
|
NM_000527.5(LDLR):c.1829_1831del (p.Ser610del)
|
rs879255037
|
|
NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe)
|
rs879255041
|
|
NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser)
|
rs879255042
|
|
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.1840T>A (p.Phe614Ile)
|
rs879255043
|
|
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys)
|
rs879255045
|
|
NM_000527.5(LDLR):c.1845+11C>G
|
rs370245937
|
|
NM_000527.5(LDLR):c.1845+15C>A
|
rs759867686
|
|
NM_000527.5(LDLR):c.1845+1G>A
|
rs879255049
|
|
NM_000527.5(LDLR):c.1845+1G>T
|
rs879255049
|
|
NM_000527.5(LDLR):c.1845+1del
|
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
NM_000527.5(LDLR):c.1846-9C>A
|
rs1568610732
|
|
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677
|
|
NM_000527.5(LDLR):c.1853_1864del (p.Val618_Thr621del)
|
rs879255052
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser)
|
rs879255054
|
|
NM_000527.5(LDLR):c.1856T>G (p.Phe619Cys)
|
rs879255054
|
|
NM_000527.5(LDLR):c.185C>G (p.Thr62Arg)
|
rs376207800
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg)
|
rs879255058
|
|
NM_000527.5(LDLR):c.1863A>G (p.Thr621=)
|
rs768509914
|
|
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn)
|
rs879255059
|
|
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly)
|
rs879255060
|
|
NM_000527.5(LDLR):c.1867dup (p.Ile623fs)
|
rs1555807206
|
|
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
|
|
|
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr)
|
rs879255064
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.1878del (p.Ala627fs)
|
rs1057516134
|
|
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066
|
|
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg)
|
rs879254426
|
|
NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp)
|
rs875989934
|
|
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr)
|
rs879255067
|
|
NM_000527.5(LDLR):c.1885T>G (p.Phe629Val)
|
rs765736500
|
|
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr)
|
rs879254427
|
|
NM_000527.5(LDLR):c.188G>T (p.Cys63Phe)
|
rs879254427
|
|
NM_000527.5(LDLR):c.1891_2311+1062del
|
|
|
NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp)
|
rs879255070
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu)
|
rs754536745
|
|
NM_000527.5(LDLR):c.190+1G>A
|
rs879254428
|
|
NM_000527.5(LDLR):c.190+5G>A
|
rs1131692190
|
|
NM_000527.5(LDLR):c.1904_1905del (p.Thr635fs)
|
rs2077524382
|
|
NM_000527.5(LDLR):c.1907G>A (p.Gly636Asp)
|
rs879255072
|
|
NM_000527.5(LDLR):c.1907G>T (p.Gly636Val)
|
rs879255072
|
|
NM_000527.5(LDLR):c.191-15C>G
|
rs749245318
|
|
NM_000527.5(LDLR):c.191-1G>A
|
rs879254433
|
|
NM_000527.5(LDLR):c.191-2A>G
|
rs544203837
|
|
NM_000527.5(LDLR):c.191-2delinsCT
|
rs879254432
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter)
|
rs2077524952
|
|
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val)
|
rs879255075
|
|
NM_000527.5(LDLR):c.1936C>A (p.Leu646Ile)
|
rs779940524
|
|
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
|
|
|
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser)
|
rs879255080
|
|
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081
|
|
NM_000527.5(LDLR):c.1952A>T (p.Asp651Val)
|
rs563382937
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe)
|
rs879255085
|
|
NM_000527.5(LDLR):c.1958T>G (p.Val653Gly)
|
rs879255086
|
|
NM_000527.5(LDLR):c.1960C>T (p.Leu654Phe)
|
rs879255087
|
|
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu)
|
rs879255090
|
|
NM_000527.5(LDLR):c.1968C>G (p.His656Gln)
|
rs879255091
|
|
NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro)
|
rs773693079
|
|
NM_000527.5(LDLR):c.1978C>A (p.Gln660Lys)
|
rs193922569
|
|
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter)
|
rs193922569
|
|
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg)
|
rs879255095
|
|
NM_000527.5(LDLR):c.1981C>G (p.Pro661Ala)
|
rs1182317785
|
|
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
|
|
|
NM_000527.5(LDLR):c.1987+6G>C
|
rs752382813
|
|
NM_000527.5(LDLR):c.1988-2A>T
|
rs879255101
|
|
NM_000527.5(LDLR):c.1990G>A (p.Val664Met)
|
rs879255103
|
|
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
|
|
|
NM_000527.5(LDLR):c.1A>C (p.Met1Leu)
|
rs879254382
|
|
NM_000527.5(LDLR):c.1A>G (p.Met1Val)
|
rs879254382
|
|
NM_000527.5(LDLR):c.1A>T (p.Met1Leu)
|
rs879254382
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp)
|
rs879255109
|
|
NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer)
|
rs1600743301
|
|
NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg)
|
|
|
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.2026G>C (p.Gly676Arg)
|
rs745753810
|
|
NM_000527.5(LDLR):c.2030G>A (p.Cys677Tyr)
|
rs875989938
|
|
NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe)
|
rs875989938
|
|
NM_000527.5(LDLR):c.2033_2044del (p.Gln678_Cys681del)
|
rs879255115
|
|
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter)
|
rs760436036
|
|
NM_000527.5(LDLR):c.2039T>C (p.Leu680Pro)
|
rs1555807379
|
|
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
|
|
|
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly)
|
rs879255118
|
|
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr)
|
rs201637900
|
|
NM_000527.5(LDLR):c.2042G>C (p.Cys681Ser)
|
rs201637900
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2043C>G (p.Cys681Trp)
|
rs121908031
|
|
NM_000527.5(LDLR):c.2053C>A (p.Pro685Thr)
|
rs2569548
|
|
NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser)
|
rs2569548
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
NM_000527.5(LDLR):c.2068C>G (p.His690Asp)
|
rs757009067
|
|
NM_000527.5(LDLR):c.2079G>A (p.Lys693=)
|
rs551528700
|
|
NM_000527.5(LDLR):c.2087G>A (p.Cys696Tyr)
|
rs879255134
|
|
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr)
|
rs776217028
|
|
NM_000527.5(LDLR):c.2092del (p.Cys698fs)
|
rs879255135
|
|
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
|
|
|
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe)
|
rs879255136
|
|
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp)
|
rs879255137
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)
|
rs879255139
|
|
NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu)
|
rs759858813
|
|
NM_000527.5(LDLR):c.2106G>C (p.Met702Ile)
|
|
|
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)
|
rs193922570
|
|
NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr)
|
rs879255142
|
|
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly)
|
rs1057519684
|
|
NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser)
|
rs879255144
|
|
NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr)
|
rs879255145
|
|
NM_000527.5(LDLR):c.2132G>T (p.Cys711Phe)
|
rs879255145
|
|
NM_000527.5(LDLR):c.2140+14C>T
|
rs756150298
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.2140+1G>T
|
rs145787161
|
|
NM_000527.5(LDLR):c.2140+2T>C
|
rs879255147
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
NM_000527.5(LDLR):c.2140+86C>G
|
rs587776886
|
|
NM_000527.5(LDLR):c.2140G>C (p.Glu714Gln)
|
rs869320652
|
|
NM_000527.5(LDLR):c.2141-7C>A
|
rs2147272729
|
|
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys)
|
rs879255149
|
|
NM_000527.5(LDLR):c.2150C>G (p.Ala717Gly)
|
rs879255150
|
|
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile)
|
rs879255154
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)
|
rs763213863
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
NM_000527.5(LDLR):c.2229_2234dup (p.Arg744_Pro745dup)
|
rs1131692222
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln)
|
rs1555808091
|
|
NM_000527.5(LDLR):c.2233_2291del (p.Pro745fs)
|
rs1555808094
|
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
|
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)
|
rs875989890
|
|
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp)
|
rs559239150
|
|
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291
|
|
NM_000527.5(LDLR):c.227_233del (p.Gly76fs)
|
rs2147216927
|
|
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)
|
rs774698247
|
|
NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile)
|
rs879255173
|
|
NM_000527.5(LDLR):c.230del (p.Gly77fs)
|
rs879254440
|
|
NM_000527.5(LDLR):c.2311+1941_*1216dup
|
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
|
|
NM_000527.5(LDLR):c.2311+2T>G
|
rs879255176
|
|
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
|
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
|
|
|
NM_000527.5(LDLR):c.233del (p.Arg78fs)
|
rs1057516129
|
|
NM_000527.5(LDLR):c.2360T>A (p.Val787Glu)
|
rs879255182
|
|
NM_000527.5(LDLR):c.2374A>T (p.Ile792Phe)
|
rs761123215
|
|
NM_000527.5(LDLR):c.2384C>A (p.Pro795His)
|
rs879255184
|
|
NM_000527.5(LDLR):c.2389+14G>A
|
|
|
NM_000527.5(LDLR):c.2389+1G>A
|
rs879255186
|
|
NM_000527.5(LDLR):c.2389+1G>T
|
rs879255186
|
|
NM_000527.5(LDLR):c.2389+2T>G
|
rs879255188
|
|
NM_000527.5(LDLR):c.2389+41C>A
|
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
NM_000527.5(LDLR):c.2389+5G>A
|
rs879255191
|
|
NM_000527.5(LDLR):c.2389+5G>T
|
rs879255191
|
|
NM_000527.5(LDLR):c.2389+7G>A
|
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu)
|
rs750518671
|
|
NM_000527.5(LDLR):c.2390-1G>C
|
rs879255193
|
|
NM_000527.5(LDLR):c.2392CTC[1] (p.Leu799del)
|
rs879255195
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs)
|
rs879255197
|
|
NM_000527.5(LDLR):c.2399T>A (p.Val800Asp)
|
rs879255199
|
|
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del)
|
rs879255201
|
|
NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup)
|
rs879255201
|
|
NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)
|
rs879254444
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.241C>A (p.Arg81Ser)
|
rs730882078
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter)
|
rs879255212
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln)
|
rs879255213
|
|
NM_000527.5(LDLR):c.244T>G (p.Cys82Gly)
|
rs879254447
|
|
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr)
|
rs879254448
|
|
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe)
|
rs879254448
|
|
NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp)
|
rs879255215
|
|
NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys)
|
rs374045590
|
|
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)
|
rs374045590
|
|
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.2479G>T (p.Val827Phe)
|
rs137853964
|
|
NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser)
|
rs28942085
|
|
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
|
|
|
NM_000527.5(LDLR):c.248T>C (p.Ile83Thr)
|
rs1555802745
|
|
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)
|
rs879255220
|
|
NM_000527.5(LDLR):c.250C>T (p.Pro84Ser)
|
rs879254449
|
|
NM_000527.5(LDLR):c.251C>G (p.Pro84Arg)
|
rs875989892
|
|
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu)
|
rs875989892
|
|
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp)
|
rs121908037
|
|
NM_000527.5(LDLR):c.2544dup (p.Ser849fs)
|
rs879255222
|
|
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)
|
rs377437226
|
|
NM_000527.5(LDLR):c.2546del (p.Pro848_Ser849insTer)
|
|
|
NM_000527.5(LDLR):c.2547+5G>A
|
rs879255226
|
|
NM_000527.5(LDLR):c.2547+5G>C
|
rs879255226
|
|
NM_000527.5(LDLR):c.2548-19G>A
|
|
|
NM_000527.5(LDLR):c.2548-23C>T
|
|
|
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del)
|
rs879254451
|
|
NM_000527.5(LDLR):c.259T>C (p.Trp87Arg)
|
rs121908025
|
|
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
|
|
|
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr)
|
rs875989894
|
|
NM_000527.5(LDLR):c.269A>C (p.Asp90Ala)
|
rs771019366
|
|
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.274C>G (p.Gln92Glu)
|
rs774467219
|
|
NM_000527.5(LDLR):c.274del (p.Gln92fs)
|
rs2077232183
|
|
NM_000527.5(LDLR):c.283T>A (p.Cys95Ser)
|
rs879254456
|
|
NM_000527.5(LDLR):c.283T>C (p.Cys95Arg)
|
rs879254456
|
|
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly)
|
rs879254456
|
|
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)
|
rs879254457
|
|
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe)
|
rs879254457
|
|
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
|
|
|
NM_000527.5(LDLR):c.292G>C (p.Gly98Arg)
|
rs750474121
|
|
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)
|
rs879254459
|
|
NM_000527.5(LDLR):c.299A>G (p.Asp100Gly)
|
rs879254460
|
|
NM_000527.5(LDLR):c.2T>C (p.Met1Thr)
|
rs1555800701
|
|
NM_000527.5(LDLR):c.300C>G (p.Asp100Glu)
|
rs766709484
|
|
NM_000527.5(LDLR):c.305A>C (p.Gln102Pro)
|
rs879254462
|
|
NM_000527.5(LDLR):c.310T>C (p.Cys104Arg)
|
rs879254464
|
|
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)
|
rs875989895
|
|
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe)
|
rs875989895
|
|
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+2T>A
|
rs793888517
|
|
NM_000527.5(LDLR):c.313+2dup
|
rs875989897
|
|
NM_000527.5(LDLR):c.313+5G>A
|
|
|
NM_000527.5(LDLR):c.313+5G>T
|
rs879254467
|
|
NM_000527.5(LDLR):c.313+6T>C
|
rs879254468
|
|
NM_000527.5(LDLR):c.313_313+1del
|
rs875989896
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
NM_000527.5(LDLR):c.314-3C>T
|
rs879254469
|
|
NM_000527.5(LDLR):c.314-446_1187-386dup
|
|
|
NM_000527.5(LDLR):c.314-9T>A
|
|
|
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.324_325delinsTC (p.Cys109Arg)
|
rs879254476
|
|
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)
|
rs121908042
|
|
NM_000527.5(LDLR):c.326G>C (p.Cys109Ser)
|
rs121908042
|
|
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe)
|
rs121908042
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
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.347_349del (p.Cys116_His117delinsTyr)
|
rs879254483
|
|
NM_000527.5(LDLR):c.355G>A (p.Gly119Arg)
|
rs869320648
|
|
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg)
|
rs879254492
|
|
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)
|
rs879254495
|
|
NM_000527.5(LDLR):c.370C>G (p.Arg124Gly)
|
rs879254498
|
|
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp)
|
rs879254498
|
|
NM_000527.5(LDLR):c.373C>A (p.Gln125Lys)
|
rs875989899
|
|
NM_000527.5(LDLR):c.377T>C (p.Phe126Ser)
|
rs879254502
|
|
NM_000527.5(LDLR):c.382T>C (p.Cys128Arg)
|
rs879254505
|
|
NM_000527.5(LDLR):c.383G>A (p.Cys128Tyr)
|
rs879254506
|
|
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr)
|
rs879254508
|
|
NM_000527.5(LDLR):c.388T>C (p.Ser130Pro)
|
rs879254508
|
|
NM_000527.5(LDLR):c.391G>C (p.Asp131His)
|
rs879254511
|
|
NM_000527.5(LDLR):c.396G>A (p.Arg132=)
|
rs2077269758
|
|
NM_000527.5(LDLR):c.397G>A (p.Asp133Asn)
|
rs879254513
|
|
NM_000527.5(LDLR):c.3G>A (p.Met1Ile)
|
rs879254383
|
|
NM_000527.5(LDLR):c.3G>T (p.Met1Ile)
|
rs879254383
|
|
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg)
|
rs875989900
|
|
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr)
|
rs879254514
|
|
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)
|
rs879254514
|
|
NM_000527.5(LDLR):c.402C>T (p.Cys134=)
|
rs879254515
|
|
NM_000527.5(LDLR):c.409G>T (p.Gly137Cys)
|
rs730882082
|
|
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)
|
|
|
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly)
|
rs879254518
|
|
NM_000527.5(LDLR):c.416A>T (p.Asp139Val)
|
rs879254518
|
|
NM_000527.5(LDLR):c.417C>G (p.Asp139Glu)
|
rs537484504
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
NM_000527.5(LDLR):c.419A>G (p.Glu140Gly)
|
rs879254519
|
|
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)
|
rs879254520
|
|
NM_000527.5(LDLR):c.420G>T (p.Glu140Asp)
|
rs879254520
|
|
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.427T>G (p.Cys143Gly)
|
rs875989901
|
|
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr)
|
rs879254522
|
|
NM_000527.5(LDLR):c.428G>C (p.Cys143Ser)
|
rs879254522
|
|
NM_000527.5(LDLR):c.428G>T (p.Cys143Phe)
|
rs879254522
|
|
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu)
|
rs912448894
|
|
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)
|
rs879254524
|
|
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg)
|
rs879254525
|
|
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr)
|
rs879254526
|
|
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser)
|
rs879254526
|
|
NM_000527.5(LDLR):c.44T>A (p.Leu15His)
|
rs879254390
|
|
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)
|
rs879254390
|
|
NM_000527.5(LDLR):c.451G>A (p.Ala151Thr)
|
rs763233960
|
|
NM_000527.5(LDLR):c.453C>T (p.Ala151=)
|
|
|
NM_000527.5(LDLR):c.458T>G (p.Phe153Cys)
|
rs879254533
|
|
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)
|
rs879254534
|
|
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg)
|
rs879254535
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr)
|
rs879254536
|
|
NM_000527.5(LDLR):c.464G>T (p.Cys155Phe)
|
rs879254536
|
|
NM_000527.5(LDLR):c.467del (p.Asn156fs)
|
rs1057516135
|
|
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg)
|
rs879254540
|
|
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
|
|
|
NM_000527.5(LDLR):c.47T>C (p.Leu16Pro)
|
rs879254391
|
|
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn)
|
rs754933794
|
|
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)
|
rs879254544
|
|
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg)
|
rs879254547
|
|
NM_000527.5(LDLR):c.4G>A (p.Gly2Arg)
|
rs5931
|
|
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
|
|
|
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr)
|
rs879254548
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
NM_000527.5(LDLR):c.501C>G (p.Cys167Trp)
|
rs752596535
|
|
NM_000527.5(LDLR):c.502G>C (p.Asp168His)
|
rs200727689
|
|
NM_000527.5(LDLR):c.502G>T (p.Asp168Tyr)
|
rs200727689
|
|
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu)
|
rs1060499931
|
|
NM_000527.5(LDLR):c.514G>C (p.Asp172His)
|
rs879254554
|
|
NM_000527.5(LDLR):c.514G>T (p.Asp172Tyr)
|
rs879254554
|
|
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)
|
rs879254558
|
|
NM_000527.5(LDLR):c.518G>A (p.Cys173Tyr)
|
rs879254560
|
|
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter)
|
rs769318035
|
|
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)
|
rs769318035
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
NM_000527.5(LDLR):c.532G>C (p.Asp178His)
|
rs879254565
|
|
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly)
|
rs875989902
|
|
NM_000527.5(LDLR):c.533A>T (p.Asp178Val)
|
rs875989902
|
|
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu)
|
rs879254566
|
|
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter)
|
rs879254569
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)
|
|
|
NM_000527.5(LDLR):c.543G>T (p.Pro181=)
|
rs766577671
|
|
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg)
|
rs879254572
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.551G>C (p.Cys184Ser)
|
rs121908039
|
|
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.589T>C (p.Cys197Arg)
|
rs730882085
|
|
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)
|
rs730882085
|
|
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)
|
rs376459828
|
|
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp)
|
rs879254584
|
|
NM_000527.5(LDLR):c.598T>A (p.Phe200Ile)
|
rs879254585
|
|
NM_000527.5(LDLR):c.599T>G (p.Phe200Cys)
|
rs879254586
|
|
NM_000527.5(LDLR):c.59G>A (p.Gly20Glu)
|
rs1568582750
|
|
NM_000527.5(LDLR):c.611G>C (p.Cys204Ser)
|
rs879254592
|
|
NM_000527.5(LDLR):c.613C>G (p.Leu205Val)
|
rs1131692196
|
|
NM_000527.5(LDLR):c.618T>G (p.Ser206Arg)
|
rs879254595
|
|
NM_000527.5(LDLR):c.621C>G (p.Gly207=)
|
rs121908044
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)
|
rs879254597
|
|
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter)
|
rs879254597
|
|
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)
|
rs879254600
|
|
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn)
|
rs879254601
|
|
NM_000527.5(LDLR):c.631C>G (p.His211Asp)
|
rs771917370
|
|
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr)
|
rs879254604
|
|
NM_000527.5(LDLR):c.640T>C (p.Trp214Arg)
|
rs1600711159
|
|
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr)
|
rs879254611
|
|
NM_000527.5(LDLR):c.648dup (p.Asp217Ter)
|
rs875989903
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.653del (p.Gly218fs)
|
rs137853966
|
|
NM_000527.5(LDLR):c.656_661del (p.Gly219_Pro220del)
|
rs879254617
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
|
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)
|
rs875989906
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup)
|
rs879254620
|
|
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe)
|
rs730882086
|
|
NM_000527.5(LDLR):c.666C>T (p.Cys222=)
|
rs756613387
|
|
NM_000527.5(LDLR):c.67+1G>A
|
|
|
NM_000527.5(LDLR):c.67+1G>T
|
rs762417023
|
|
NM_000527.5(LDLR):c.67+2T>A
|
rs879254394
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)
|
rs879254630
|
|
NM_000527.5(LDLR):c.671A>T (p.Asp224Val)
|
rs879254630
|
|
NM_000527.5(LDLR):c.672C>A (p.Asp224Glu)
|
rs1057519658
|
|
NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del)
|
rs1555803439
|
|
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro)
|
rs879254635
|
|
NM_000527.5(LDLR):c.679G>C (p.Asp227His)
|
rs2077282480
|
|
NM_000527.5(LDLR):c.68-1G>A
|
rs879254397
|
|
NM_000527.5(LDLR):c.68-2A>G
|
|
|
NM_000527.5(LDLR):c.68-2A>T
|
rs879254396
|
|
NM_000527.5(LDLR):c.68-5_68-2del
|
rs879254395
|
|
NM_000527.5(LDLR):c.680A>T (p.Asp227Val)
|
rs879254638
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
NM_000527.5(LDLR):c.681C>A (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
|
|
NM_000527.5(LDLR):c.683A>G (p.Glu228Gly)
|
rs879254642
|
|
NM_000527.5(LDLR):c.684G>C (p.Glu228Asp)
|
rs1208216597
|
|
NM_000527.5(LDLR):c.690C>T (p.Asn230=)
|
rs879254643
|
|
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg)
|
rs746091400
|
|
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly)
|
rs746091400
|
|
NM_000527.5(LDLR):c.692G>A (p.Cys231Tyr)
|
rs879254644
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
|
|
NM_000527.5(LDLR):c.694+1G>A
|
rs879254646
|
|
NM_000527.5(LDLR):c.694+25C>T
|
|
|
NM_000527.5(LDLR):c.694+6G>A
|
rs1019330092
|
|
NM_000527.5(LDLR):c.694+8_694+18del
|
rs777512182
|
|
NM_000527.5(LDLR):c.694G>T (p.Ala232Ser)
|
rs72658857
|
|
NM_000527.5(LDLR):c.695-10T>G
|
|
|
NM_000527.5(LDLR):c.695-1G>A
|
rs879254652
|
|
NM_000527.5(LDLR):c.695-1G>T
|
rs879254652
|
|
NM_000527.5(LDLR):c.706T>C (p.Cys236Arg)
|
rs879254655
|
|
NM_000527.5(LDLR):c.722T>C (p.Phe241Ser)
|
rs748131256
|
|
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)
|
rs879254659
|
|
NM_000527.5(LDLR):c.737G>A (p.Gly246Glu)
|
rs879254661
|
|
NM_000527.5(LDLR):c.737G>T (p.Gly246Val)
|
rs879254661
|
|
NM_000527.5(LDLR):c.742T>G (p.Cys248Gly)
|
rs879254662
|
|
NM_000527.5(LDLR):c.743G>T (p.Cys248Phe)
|
rs879254663
|
|
NM_000527.5(LDLR):c.750T>C (p.His250=)
|
rs141929940
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.758G>C (p.Arg253Pro)
|
rs139507589
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
|
NM_000527.5(LDLR):c.762G>T (p.Gln254His)
|
rs764526789
|
|
NM_000527.5(LDLR):c.763T>A (p.Cys255Ser)
|
rs879254668
|
|
NM_000527.5(LDLR):c.763T>C (p.Cys255Arg)
|
rs879254668
|
|
NM_000527.5(LDLR):c.763T>G (p.Cys255Gly)
|
rs879254668
|
|
NM_000527.5(LDLR):c.767A>G (p.Asp256Gly)
|
rs879254670
|
|
NM_000527.5(LDLR):c.768C>A (p.Asp256Glu)
|
rs879254671
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000527.5(LDLR):c.770G>C (p.Arg257Pro)
|
rs757808215
|
|
NM_000527.5(LDLR):c.770G>T (p.Arg257Leu)
|
rs757808215
|
|
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter)
|
rs2147228929
|
|
NM_000527.5(LDLR):c.779_782del (p.Asp260fs)
|
rs1600713742
|
|
NM_000527.5(LDLR):c.782G>A (p.Cys261Tyr)
|
rs121908040
|
|
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr)
|
rs875989907
|
|
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys)
|
rs879254679
|
|
NM_000527.5(LDLR):c.79T>C (p.Cys27Arg)
|
rs1555802245
|
|
NM_000527.5(LDLR):c.800A>C (p.Glu267Ala)
|
rs879254680
|
|
NM_000527.5(LDLR):c.801A>T (p.Glu267Asp)
|
rs879254681
|
|
NM_000527.5(LDLR):c.805G>A (p.Gly269Ser)
|
rs1131692200
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.808T>A (p.Cys270Ser)
|
rs879254682
|
|
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr)
|
rs879254683
|
|
NM_000527.5(LDLR):c.817+1G>A
|
rs879254685
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
NM_000527.5(LDLR):c.818-1G>A
|
rs879254688
|
|
NM_000527.5(LDLR):c.818-3C>G
|
rs886039831
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg)
|
rs879254692
|
|
NM_000527.5(LDLR):c.826T>G (p.Cys276Gly)
|
rs879254692
|
|
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr)
|
rs730882089
|
|
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)
|
rs146651743
|
|
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
|
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)
|
rs551747280
|
|
NM_000527.5(LDLR):c.850T>G (p.Cys284Gly)
|
rs879254693
|
|
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
|
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys)
|
rs375495026
|
|
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg)
|
rs879254697
|
|
NM_000527.5(LDLR):c.865del (p.Cys289fs)
|
rs879254696
|
|
NM_000527.5(LDLR):c.880A>G (p.Lys294Glu)
|
rs879254703
|
|
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707
|
|
NM_000527.5(LDLR):c.887G>C (p.Cys296Ser)
|
rs879254707
|
|
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr)
|
rs879254711
|
|
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser)
|
rs879254711
|
|
NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr)
|
rs879254713
|
|
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
|
|
|
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr)
|
rs879254715
|
|
NM_000527.5(LDLR):c.905del (p.Cys302fs)
|
rs1057516130
|
|
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp)
|
rs879254716
|
|
NM_000527.5(LDLR):c.910G>C (p.Asp304His)
|
rs121908030
|
|
NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr)
|
rs121908030
|
|
NM_000527.5(LDLR):c.911A>T (p.Asp304Val)
|
rs1555803898
|
|
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
|
rs875989909
|
|
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser)
|
rs879254717
|
|
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys)
|
rs757252110
|
|
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917
|
|
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn)
|
rs879254719
|
|
NM_000527.5(LDLR):c.919G>C (p.Asp307His)
|
rs879254719
|
|
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)
|
rs1555803908
|
|
NM_000527.5(LDLR):c.921T>G (p.Asp307Glu)
|
rs879254720
|
|
NM_000527.5(LDLR):c.922G>A (p.Glu308Lys)
|
rs879254721
|
|
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254
|
|
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg)
|
rs879254728
|
|
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)
|
rs875989910
|
|
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp)
|
rs13306512
|
|
NM_000527.5(LDLR):c.940+1G>C
|
rs879254729
|
|
NM_000527.5(LDLR):c.940+2T>A
|
rs875989912
|
|
NM_000527.5(LDLR):c.940+2T>C
|
rs875989912
|
|
NM_000527.5(LDLR):c.940+3_940+6del
|
rs2077315885
|
|
NM_000527.5(LDLR):c.940+9C>T
|
|
|
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734
|
|
NM_000527.5(LDLR):c.941-1G>A
|
rs879254735
|
|
NM_000527.5(LDLR):c.941-2A>C
|
rs112366278
|
|
NM_000527.5(LDLR):c.941-2A>G
|
rs112366278
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
NM_000527.5(LDLR):c.941-4G>A
|
|
|
NM_000527.5(LDLR):c.941-8C>G
|
rs2077359932
|
|
NM_000527.5(LDLR):c.947A>C (p.Asn316Thr)
|
rs730882094
|
|
NM_000527.5(LDLR):c.948C>G (p.Asn316Lys)
|
rs780673258
|
|
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
|
|
|
NM_000527.5(LDLR):c.95T>G (p.Phe32Cys)
|
rs879254403
|
|
NM_000527.5(LDLR):c.961AAC[1] (p.Asn322del)
|
|
|
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile)
|
rs879254742
|
|
NM_000527.5(LDLR):c.967G>T (p.Gly323Cys)
|
rs373869746
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)
|
rs879254746
|
|
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
|
|
|
NM_000527.5(LDLR):c.980A>C (p.His327Pro)
|
rs2077361686
|
|
NM_000527.5(LDLR):c.981C>A (p.His327Gln)
|
rs1060499933
|
|
NM_000527.5(LDLR):c.982G>A (p.Val328Ile)
|
rs768925824
|
|
NM_000527.5(LDLR):c.985T>C (p.Cys329Arg)
|
rs879254749
|
|
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly)
|
rs879254749
|
|
NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup
|
|
|
Single allele
|
|
|
c.(1060+1_1061-1)_(1186+1_1187-1)del
|
|
|
c.(1186+1_1187-1)_(2140+1_2141-1)dup
|
|
|
c.(1586+1_1587-1)_(1845+1_1846-1)dup
|
|
|
c.(190+1_191-1)_(694+1_695-1)dup
|
|
|
c.(313+1_314-1)_(1186+1_1187-1)dup
|
|
|
c.(?_-187)_(190+1_191-1)del
|
|
|