|
NM_000527.5(LDLR):c.2312-136A>G
|
rs2569538
|
0.86836
|
|
NM_000527.5(LDLR):c.*1262T>C
|
rs2915966
|
0.82752
|
|
NM_000527.5(LDLR):c.*315G>C
|
rs2738464
|
0.80309
|
|
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.*666T>C
|
rs1433099
|
0.65588
|
|
NM_000527.5(LDLR):c.1706-55A>C
|
rs2738447
|
0.65266
|
|
NM_000527.5(LDLR):c.1705+182C>T
|
rs2738445
|
0.58403
|
|
NM_000527.5(LDLR):c.*1216dup
|
rs34113544
|
0.56429
|
|
NM_000527.5(LDLR):c.1586+53A>G
|
rs1569372
|
0.41767
|
|
NM_000527.5(LDLR):c.2548-42A>G
|
rs6413504
|
0.39303
|
|
NM_000527.5(LDLR):c.1959T>C (p.Val653=)
|
rs5925
|
0.37370
|
|
NM_000527.5(LDLR):c.*1268C>T
|
rs2978615
|
0.36542
|
|
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)
|
rs688
|
0.33392
|
|
NM_000527.5(LDLR):c.*1743C>T
|
rs2738467
|
0.32777
|
|
NM_000527.5(LDLR):c.*504G>A
|
rs2738465
|
0.29077
|
|
NM_000527.5(LDLR):c.*1453A>G
|
rs5742911
|
0.26927
|
|
NM_000527.5(LDLR):c.*1600G>T
|
rs17249064
|
0.22753
|
|
NM_000527.5(LDLR):c.*773A>G
|
rs2738466
|
0.22642
|
|
NM_000527.5(LDLR):c.2548-80G>A
|
rs2116897
|
0.22593
|
|
NM_000527.5(LDLR):c.*1510T>C
|
rs17249057
|
0.22584
|
|
NM_000527.5(LDLR):c.*52G>A
|
rs14158
|
0.22552
|
|
NM_000527.5(LDLR):c.*1336C>G
|
rs72658877
|
0.22138
|
|
NM_000527.5(LDLR):c.*1376T>C
|
rs55903358
|
0.22087
|
|
NM_000527.5(LDLR):c.2548-147G>A
|
rs2116898
|
0.22073
|
|
NM_000527.5(LDLR):c.*1168G>A
|
rs17242683
|
0.22045
|
|
NM_000527.5(LDLR):c.1705+56C>T
|
rs4508523
|
0.21747
|
|
NM_000527.5(LDLR):c.*1419C>A
|
rs55971831
|
0.21209
|
|
NM_000527.5(LDLR):c.1705+209C>T
|
rs7248981
|
0.21143
|
|
NM_000527.5(LDLR):c.*1354T>C
|
rs7258146
|
0.18343
|
|
NM_000527.4(LDLR):c.-2038C>T
|
rs17248720
|
0.16494
|
|
NM_000527.5(LDLR):c.*1430C>T
|
rs7254521
|
0.13116
|
|
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.81C>T (p.Cys27=)
|
rs2228671
|
0.08613
|
|
NM_000527.5(LDLR):c.1617C>T (p.Pro539=)
|
rs5929
|
0.07003
|
|
NM_000527.5(LDLR):c.*141G>A
|
rs3826810
|
0.06460
|
|
NM_000527.5(LDLR):c.314-50T>C
|
rs10423288
|
0.06015
|
|
NM_000527.5(LDLR):c.940+36G>A
|
rs13306513
|
0.03637
|
|
NM_000527.5(LDLR):c.1060+109T>G
|
rs10401667
|
0.03443
|
|
NM_000527.5(LDLR):c.*2016G>A
|
rs72658879
|
0.03308
|
|
NM_000527.5(LDLR):c.*1332G>A
|
rs10415069
|
0.03144
|
|
NM_000527.5(LDLR):c.*982G>C
|
rs10409044
|
0.03142
|
|
NM_000527.5(LDLR):c.*2054G>A
|
rs28398082
|
0.03101
|
|
NM_000527.5(LDLR):c.*1417A>C
|
rs72658878
|
0.01310
|
|
NM_000527.5(LDLR):c.*803C>T
|
rs17242677
|
0.01212
|
|
NM_000527.5(LDLR):c.2312-47G>A
|
rs41306974
|
0.01134
|
|
NM_000527.5(LDLR):c.90C>T (p.Asn30=)
|
rs72658855
|
0.00965
|
|
NM_000527.5(LDLR):c.*1340C>A
|
rs186461273
|
0.00951
|
|
NM_000527.5(LDLR):c.*1550A>T
|
rs143587805
|
0.00878
|
|
NM_000527.5(LDLR):c.1187-25C>T
|
rs72658862
|
0.00812
|
|
NC_000019.10:g.11089281G>T
|
rs17249134
|
0.00679
|
|
NM_000527.5(LDLR):c.2389+57C>T
|
rs145293532
|
0.00605
|
|
NM_000527.5(LDLR):c.*2111G>A
|
rs148054434
|
0.00508
|
|
NM_000527.5(LDLR):c.*1960C>T
|
rs8108932
|
0.00395
|
|
NM_000527.5(LDLR):c.*1292C>T
|
rs556381931
|
0.00379
|
|
NC_000019.10:g.11089332C>T
|
rs17249141
|
0.00338
|
|
NM_000527.5(LDLR):c.1060+59A>C
|
rs55642005
|
0.00338
|
|
NM_000527.5(LDLR):c.*2319C>G
|
rs72658880
|
0.00326
|
|
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.*338G>A
|
rs17249029
|
0.00235
|
|
NM_000527.5(LDLR):c.*517C>A
|
rs115882455
|
0.00227
|
|
NM_000527.5(LDLR):c.313+69C>T
|
rs56084625
|
0.00227
|
|
NM_000527.5(LDLR):c.2390-16G>A
|
rs183496025
|
0.00221
|
|
NM_000527.5(LDLR):c.*1173G>C
|
rs17249379
|
0.00217
|
|
NM_000527.5(LDLR):c.1545C>T (p.Asn515=)
|
rs147896205
|
0.00183
|
|
NM_000527.5(LDLR):c.*653G>C
|
rs563911564
|
0.00167
|
|
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.*2004C>T
|
rs539827046
|
0.00131
|
|
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.1705+20G>A
|
rs374417615
|
0.00107
|
|
NM_000527.5(LDLR):c.828C>T (p.Cys276=)
|
rs146651743
|
0.00096
|
|
NM_000527.5(LDLR):c.1186+106G>A
|
rs191859969
|
0.00092
|
|
NM_000527.5(LDLR):c.*1377G>A
|
rs563300769
|
0.00078
|
|
NM_000527.5(LDLR):c.*2210T>C
|
rs73925118
|
0.00070
|
|
NM_000527.5(LDLR):c.1186+29C>A
|
rs201971341
|
0.00061
|
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
|
NM_000527.5(LDLR):c.*1227C>T
|
rs72658875
|
0.00052
|
|
NM_000527.5(LDLR):c.1167G>A (p.Thr389=)
|
rs139066906
|
0.00052
|
|
NM_000527.5(LDLR):c.*1133G>C
|
rs181377148
|
0.00048
|
|
NM_000527.5(LDLR):c.*1369C>T
|
rs191796971
|
0.00045
|
|
NM_000527.5(LDLR):c.*1793A>C
|
rs886054176
|
0.00043
|
|
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.940+16G>A
|
rs72658859
|
0.00028
|
|
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.*994C>T
|
rs189408873
|
0.00022
|
|
NM_000527.5(LDLR):c.1705+18C>A
|
rs186896947
|
0.00022
|
|
NM_000527.5(LDLR):c.*1140G>A
|
rs367606490
|
0.00019
|
|
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.*966G>A
|
rs991614293
|
0.00015
|
|
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.*2365C>T
|
rs886054188
|
0.00013
|
|
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.*1256C>T
|
rs886054172
|
0.00011
|
|
NM_000527.5(LDLR):c.1706-16C>T
|
rs377194146
|
0.00011
|
|
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.68-18C>G
|
rs370599334
|
0.00010
|
|
NM_000527.5(LDLR):c.*1167C>T
|
rs1199016973
|
0.00009
|
|
NM_000527.5(LDLR):c.*2173T>C
|
rs886054184
|
0.00009
|
|
NM_000527.5(LDLR):c.*2282G>C
|
rs969781959
|
0.00009
|
|
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.67+1075G>A
|
rs764612255
|
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.*1356C>T
|
rs886054173
|
0.00007
|
|
NM_000527.5(LDLR):c.*1752G>A
|
rs886054175
|
0.00007
|
|
NM_000527.5(LDLR):c.1710C>T (p.Leu570=)
|
rs141095938
|
0.00007
|
|
NM_000527.5(LDLR):c.1988-17C>T
|
rs373531246
|
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.*376C>A
|
rs886054159
|
0.00006
|
|
NM_000527.5(LDLR):c.*533G>T
|
rs771870462
|
0.00006
|
|
NM_000527.5(LDLR):c.*979C>T
|
rs886054169
|
0.00006
|
|
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.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.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.2389+23G>A
|
rs770347398
|
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.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
|
NM_000527.5(LDLR):c.*1269G>A
|
rs573433655
|
0.00005
|
|
NM_000527.5(LDLR):c.*704G>A
|
rs918417347
|
0.00005
|
|
NM_000527.5(LDLR):c.1671T>C (p.Thr557=)
|
rs750643961
|
0.00005
|
|
NM_000527.5(LDLR):c.1988-19T>C
|
rs369606726
|
0.00005
|
|
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.*1762T>G
|
rs550542566
|
0.00004
|
|
NM_000527.5(LDLR):c.*1895A>T
|
rs886054179
|
0.00004
|
|
NM_000527.5(LDLR):c.*1961G>A
|
rs567179124
|
0.00004
|
|
NM_000527.5(LDLR):c.*287C>A
|
rs907221420
|
0.00004
|
|
NM_000527.5(LDLR):c.*808T>G
|
rs562862170
|
0.00004
|
|
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.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.190+34T>C
|
rs758901876
|
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.1987+10G>T
|
rs375846192
|
0.00004
|
|
NM_000527.5(LDLR):c.1988-13T>G
|
rs200201131
|
0.00004
|
|
NM_000527.5(LDLR):c.1988-16G>A
|
rs183599308
|
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.817+14A>G
|
rs201875602
|
0.00004
|
|
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg)
|
rs72658858
|
0.00004
|
|
NC_000019.10:g.11089263C>G
|
rs989307060
|
0.00003
|
|
NM_000527.5(LDLR):c.*2251G>C
|
rs886054187
|
0.00003
|
|
NM_000527.5(LDLR):c.*584G>T
|
rs772754135
|
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+24C>A
|
rs370478935
|
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.1186+9G>A
|
rs768475018
|
0.00003
|
|
NM_000527.5(LDLR):c.1197C>T (p.Ala399=)
|
rs752497000
|
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.1335C>G (p.Asp445Glu)
|
rs749780672
|
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.1692T>C (p.Asn564=)
|
rs528405760
|
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.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.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.417C>T (p.Asp139=)
|
rs537484504
|
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.514G>A (p.Asp172Asn)
|
rs879254554
|
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.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.*804G>A
|
rs886054165
|
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.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.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.1209C>T (p.Phe403=)
|
rs777903106
|
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.1473C>T (p.Thr491=)
|
rs558238642
|
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.1705+8C>T
|
rs754924276
|
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.1767T>C (p.Asp589=)
|
rs781481963
|
0.00002
|
|
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg)
|
rs763147599
|
0.00002
|
|
NM_000527.5(LDLR):c.190+8C>A
|
rs1200524551
|
0.00002
|
|
NM_000527.5(LDLR):c.190+9C>T
|
rs779846835
|
0.00002
|
|
NM_000527.5(LDLR):c.1900C>T (p.Leu634Phe)
|
rs1279368649
|
0.00002
|
|
NM_000527.5(LDLR):c.1988-4C>T
|
rs781188770
|
0.00002
|
|
NM_000527.5(LDLR):c.200C>T (p.Thr67Ile)
|
rs1337448484
|
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.2277C>T (p.Leu759=)
|
rs796145467
|
0.00002
|
|
NM_000527.5(LDLR):c.2294T>G (p.Val765Gly)
|
rs879255170
|
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.2411T>C (p.Leu804Pro)
|
rs879255203
|
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.314-20C>T
|
rs752849770
|
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.409G>A (p.Gly137Ser)
|
rs730882082
|
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.656G>A (p.Gly219Asp)
|
rs201384282
|
0.00002
|
|
NM_000527.5(LDLR):c.678T>C (p.Ser226=)
|
rs778388064
|
0.00002
|
|
NM_000527.5(LDLR):c.695-105G>C
|
rs879254649
|
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.96C>T (p.Phe32=)
|
rs549017482
|
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
|
|
NC_000019.10:g.11089344G>T
|
rs1310257411
|
0.00001
|
|
NC_000019.10:g.11089358C>A
|
rs934415028
|
0.00001
|
|
NC_000019.10:g.11089429C>T
|
rs875989886
|
0.00001
|
|
NC_000019.10:g.11089434T>G
|
rs1164871419
|
0.00001
|
|
NC_000019.10:g.11089447A>G
|
rs1357531646
|
0.00001
|
|
NC_000019.10:g.11089452G>C
|
rs944580031
|
0.00001
|
|
NM_000527.4(LDLR):c.-162G>C
|
rs934014113
|
0.00001
|
|
NM_000527.5(LDLR):c.*1040A>T
|
rs1052334287
|
0.00001
|
|
NM_000527.5(LDLR):c.*1131G>T
|
rs886054170
|
0.00001
|
|
NM_000527.5(LDLR):c.*1561C>T
|
rs919800171
|
0.00001
|
|
NM_000527.5(LDLR):c.*169G>T
|
rs886054157
|
0.00001
|
|
NM_000527.5(LDLR):c.*1744G>A
|
rs1028044712
|
0.00001
|
|
NM_000527.5(LDLR):c.*1858G>A
|
rs886054178
|
0.00001
|
|
NM_000527.5(LDLR):c.*420C>A
|
rs746014399
|
0.00001
|
|
NM_000527.5(LDLR):c.*767G>C
|
rs886054163
|
0.00001
|
|
NM_000527.5(LDLR):c.*995G>A
|
rs2077729618
|
0.00001
|
|
NM_000527.5(LDLR):c.-14C>A
|
rs879254380
|
0.00001
|
|
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp)
|
rs869320650
|
0.00001
|
|
NM_000527.5(LDLR):c.1008C>T (p.Tyr336=)
|
rs767024374
|
0.00001
|
|
NM_000527.5(LDLR):c.1019G>T (p.Cys340Phe)
|
rs755757866
|
0.00001
|
|
NM_000527.5(LDLR):c.1020C>G (p.Cys340Trp)
|
rs777524402
|
0.00001
|
|
NM_000527.5(LDLR):c.1023C>T (p.Pro341=)
|
rs376267007
|
0.00001
|
|
NM_000527.5(LDLR):c.1036C>T (p.Leu346=)
|
rs1135402770
|
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.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.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.1112T>C (p.Leu371Pro)
|
rs1060499920
|
0.00001
|
|
NM_000527.5(LDLR):c.1129T>G (p.Cys377Gly)
|
rs773064328
|
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.1164C>T (p.His388=)
|
rs1215990807
|
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.1186+8C>T
|
rs746742171
|
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.1187-48A>G
|
rs376882446
|
0.00001
|
|
NM_000527.5(LDLR):c.1187G>A (p.Gly396Asp)
|
rs766474188
|
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.1336C>A (p.Leu446Met)
|
rs375651668
|
0.00001
|
|
NM_000527.5(LDLR):c.1356C>T (p.Cys452=)
|
rs137853961
|
0.00001
|
|
NM_000527.5(LDLR):c.1358+9C>T
|
rs761688874
|
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.1416C>T (p.Asp472=)
|
rs1289425017
|
0.00001
|
|
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu)
|
rs201967266
|
0.00001
|
|
NM_000527.5(LDLR):c.1435C>G (p.Leu479Val)
|
rs1254928151
|
0.00001
|
|
NM_000527.5(LDLR):c.1489A>G (p.Thr497Ala)
|
rs879254920
|
0.00001
|
|
NM_000527.5(LDLR):c.1494C>T (p.Val498=)
|
rs921522373
|
0.00001
|
|
NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys)
|
rs766929574
|
0.00001
|
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
|
NM_000527.5(LDLR):c.1509C>A (p.Thr503=)
|
rs750781633
|
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.1564A>C (p.Ile522Leu)
|
rs774337050
|
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.1586G>A (p.Gly529Asp)
|
rs878854025
|
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.1587-4C>T
|
rs1478655710
|
0.00001
|
|
NM_000527.5(LDLR):c.1592T>A (p.Met531Lys)
|
rs779913921
|
0.00001
|
|
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys)
|
rs2077458389
|
0.00001
|
|
NM_000527.5(LDLR):c.1632A>G (p.Lys544=)
|
rs1291759570
|
0.00001
|
|
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)
|
rs759876319
|
0.00001
|
|
NM_000527.5(LDLR):c.1635G>A (p.Gly545=)
|
rs767602284
|
0.00001
|
|
NM_000527.5(LDLR):c.1653C>T (p.Asp551=)
|
rs753878216
|
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.1662G>A (p.Ser554=)
|
rs151047249
|
0.00001
|
|
NM_000527.5(LDLR):c.1665G>T (p.Leu555=)
|
rs779057688
|
0.00001
|
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
|
NM_000527.5(LDLR):c.1702C>T (p.Leu568=)
|
rs746959386
|
0.00001
|
|
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
|
rs138947766
|
0.00001
|
|
NM_000527.5(LDLR):c.1771A>G (p.Asn591Asp)
|
rs140644832
|
0.00001
|
|
NM_000527.5(LDLR):c.1773_1775del (p.Asn591_Gly592delinsLys)
|
rs1221971156
|
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.1791C>T (p.Thr597=)
|
rs947350236
|
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.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.1846-1G>A
|
rs879255051
|
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.1886T>G (p.Phe629Cys)
|
rs879255069
|
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.191-50C>T
|
rs374168004
|
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.1941G>A (p.Leu647=)
|
rs1466421592
|
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.1957G>A (p.Val653Ile)
|
rs879255085
|
0.00001
|
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
|
NM_000527.5(LDLR):c.1974C>T (p.Leu658=)
|
rs546153613
|
0.00001
|
|
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn)
|
rs879255094
|
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.2025C>T (p.Gly675=)
|
rs778781895
|
0.00001
|
|
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)
|
rs775092314
|
0.00001
|
|
NM_000527.5(LDLR):c.2037T>C (p.Tyr679=)
|
rs760436036
|
0.00001
|
|
NM_000527.5(LDLR):c.2038C>T (p.Leu680=)
|
rs768466575
|
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.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.2126G>A (p.Arg709Lys)
|
rs730882113
|
0.00001
|
|
NM_000527.5(LDLR):c.2138del (p.Thr713fs)
|
rs1257344396
|
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.2140G>T (p.Glu714Ter)
|
rs869320652
|
0.00001
|
|
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127
|
0.00001
|
|
NM_000527.5(LDLR):c.2190G>A (p.Lys730=)
|
rs1430407684
|
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.2250C>A (p.Ser750=)
|
rs1280804630
|
0.00001
|
|
NM_000527.5(LDLR):c.225T>C (p.Cys75=)
|
rs758927662
|
0.00001
|
|
NM_000527.5(LDLR):c.2260G>A (p.Gly754Arg)
|
rs559239150
|
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.2311+9T>G
|
rs559252149
|
0.00001
|
|
NM_000527.5(LDLR):c.2312-3C>T
|
rs875989942
|
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.2346G>C (p.Lys782Asn)
|
rs1057519688
|
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.2389+10G>A
|
rs780920371
|
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.2395C>T (p.Leu799Phe)
|
rs72658869
|
0.00001
|
|
NM_000527.5(LDLR):c.239A>G (p.Asn80Ser)
|
rs1173004910
|
0.00001
|
|
NM_000527.5(LDLR):c.2415G>A (p.Gly805=)
|
rs1232565045
|
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.2440C>T (p.Arg814Trp)
|
rs746616623
|
0.00001
|
|
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn)
|
rs1399689294
|
0.00001
|
|
NM_000527.5(LDLR):c.2469T>C (p.Phe823=)
|
rs1026436742
|
0.00001
|
|
NM_000527.5(LDLR):c.2472C>T (p.Asp824=)
|
rs1309851194
|
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.2529C>T (p.Asp843=)
|
rs374635484
|
0.00001
|
|
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser)
|
rs1555809614
|
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.314C>T (p.Pro105Leu)
|
rs730882079
|
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.366C>T (p.Ile122=)
|
rs145236808
|
0.00001
|
|
NM_000527.5(LDLR):c.369T>G (p.Ser123=)
|
rs753900469
|
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.413C>G (p.Ser138Ter)
|
rs755799528
|
0.00001
|
|
NM_000527.5(LDLR):c.418G>T (p.Glu140Ter)
|
rs748944640
|
0.00001
|
|
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)
|
rs199774121
|
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.447T>C (p.Gly149=)
|
rs765386678
|
0.00001
|
|
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro)
|
rs763233960
|
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.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.513C>T (p.Pro171=)
|
rs747327435
|
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.544C>T (p.Gln182Ter)
|
rs879254570
|
0.00001
|
|
NM_000527.5(LDLR):c.548G>A (p.Arg183His)
|
rs767273754
|
0.00001
|
|
NM_000527.5(LDLR):c.565G>C (p.Val189Leu)
|
rs370820135
|
0.00001
|
|
NM_000527.5(LDLR):c.572A>C (p.Gln191Pro)
|
rs1423948022
|
0.00001
|
|
NM_000527.5(LDLR):c.581del (p.Ser194fs)
|
rs2077276693
|
0.00001
|
|
NM_000527.5(LDLR):c.584G>A (p.Ser195Asn)
|
rs879254583
|
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.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
|
NM_000527.5(LDLR):c.644G>A (p.Arg215His)
|
rs753319170
|
0.00001
|
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
|
NM_000527.5(LDLR):c.674_681dup (p.Glu228fs)
|
rs1555803423
|
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.694+8C>T
|
rs370855899
|
0.00001
|
|
NM_000527.5(LDLR):c.694G>A (p.Ala232Thr)
|
rs72658857
|
0.00001
|
|
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys)
|
rs879254657
|
0.00001
|
|
NM_000527.5(LDLR):c.711C>T (p.Arg237=)
|
rs780294768
|
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.758G>A (p.Arg253Gln)
|
rs139507589
|
0.00001
|
|
NM_000527.5(LDLR):c.770G>A (p.Arg257Gln)
|
rs757808215
|
0.00001
|
|
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter)
|
rs879254672
|
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.790A>C (p.Met264Leu)
|
rs730882088
|
0.00001
|
|
NM_000527.5(LDLR):c.795C>T (p.Ser265=)
|
rs146181232
|
0.00001
|
|
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
|
NM_000527.5(LDLR):c.807C>T (p.Gly269=)
|
rs1421542394
|
0.00001
|
|
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg)
|
rs879254682
|
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.817+7G>A
|
rs572275000
|
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.843G>A (p.Lys281=)
|
rs778510630
|
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.874C>T (p.Leu292=)
|
rs752072833
|
0.00001
|
|
NM_000527.5(LDLR):c.889A>C (p.Asn297His)
|
rs879254709
|
0.00001
|
|
NM_000527.5(LDLR):c.891C>T (p.Asn297=)
|
rs1266870060
|
0.00001
|
|
NM_000527.5(LDLR):c.892A>G (p.Met298Val)
|
rs730882092
|
0.00001
|
|
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)
|
rs767618089
|
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.932A>C (p.Lys311Thr)
|
rs761765254
|
0.00001
|
|
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)
|
rs875989911
|
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.941-7T>C
|
rs764945757
|
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
|
|
FH Aarhus
|
|
|
|
FH Bologna 2
|
|
|
|
FH Cape Town 2
|
|
|
|
FH Leiden 2
|
|
|
|
FH London 1
|
|
|
|
FH London 2
|
|
|
|
FH Paris 1
|
rs1555803632
|
|
|
FH Reykjavik
|
|
|
|
FH Tonami 1
|
|
|
|
FH Tsukuba 2
|
|
|
|
FH Vancouver 2
|
|
|
|
FH Vancouver 3
|
|
|
|
FH Vancouver 6
|
|
|
|
GRCh37/hg19 19p13.2(chr19:11210898-11218191)x3
|
|
|
|
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
|
|
|
|
GRCh37/hg19 19p13.2(chr19:11215846-11222365)x3
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11106564-11107515)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11110650-11110651)x3
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11116092-11116093)x3
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11116093-11116999)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11120091-11120523)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11120091-11123345)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11128007-11133830)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11129512-11133830)x1
|
|
|
|
LDLR, EX17-18DEL
|
|
|
|
NC_000019.10:g.(?_11089282)_(11100355_?)del
|
|
|
|
NC_000019.10:g.(?_11089282)_(11131359_?)del
|
|
|
|
NC_000019.10:g.(?_11089362)_(11089615_?)del
|
|
|
|
NC_000019.10:g.(?_11100203)_(11102806_?)del
|
|
|
|
NC_000019.10:g.(?_11100203)_(11107534_?)del
|
|
|
|
NC_000019.10:g.(?_11100213)_(11102796_?)del
|
|
|
|
NC_000019.10:g.(?_11100213)_(11107528_?)del
|
|
|
|
NC_000019.10:g.(?_11102644)_(11107534_?)del
|
|
|
|
NC_000019.10:g.(?_11102654)_(11106697_?)del
|
|
|
|
NC_000019.10:g.(?_11102654)_(11107528_?)del
|
|
|
|
NC_000019.10:g.(?_11105200)_(11107534_?)del
|
|
|
|
NC_000019.10:g.(?_11105210)_(11107528_?)del
|
|
|
|
NC_000019.10:g.(?_11110613)_(11111650_?)del
|
|
|
|
NC_000019.10:g.(?_11110613)_(11117013_?)del
|
|
|
|
NC_000019.10:g.(?_11110613)_(11117013_?)dup
|
|
|
|
NC_000019.10:g.(?_11110652)_(11110771_?)del
|
|
|
|
NC_000019.10:g.(?_11110652)_(11110771_?)dup
|
|
|
|
NC_000019.10:g.(?_11110652)_(11111639_?)del
|
|
|
|
NC_000019.10:g.(?_11111514)_(11111639_?)del
|
|
|
|
NC_000019.10:g.(?_11113268)_(11117013_?)dup
|
|
|
|
NC_000019.10:g.(?_11116074)_(11117018_?)del
|
|
|
|
NC_000019.10:g.(?_11116074)_(11131359_?)del
|
|
|
|
NC_000019.10:g.(?_11116084)_(11116222_?)del
|
|
|
|
NC_000019.10:g.(?_11116084)_(11117013_?)del
|
|
|
|
NC_000019.10:g.(?_11116084)_(11120608_?)del
|
|
|
|
NC_000019.10:g.(?_11116849)_(11120608_?)del
|
|
|
|
NC_000019.10:g.(?_11120072)_(11120608_?)del
|
|
|
|
NC_000019.10:g.(?_11120082)_(11120608_?)del
|
|
|
|
NC_000019.10:g.(?_11120086)_(11129676_?)dup
|
|
|
|
NC_000019.10:g.(?_11123154)_(11131359_?)del
|
|
|
|
NC_000019.10:g.(?_11127988)_(11128105_?)del
|
|
|
|
NC_000019.10:g.(?_11127998)_(11128095_?)del
|
|
|
|
NC_000019.10:g.(?_11127998)_(11131359_?)del
|
|
|
|
NC_000019.10:g.(?_11128008)_(11128085_?)del
|
|
|
|
NC_000019.10:g.(?_11129503)_(11131359_?)del
|
|
|
|
NC_000019.10:g.(?_11129513)_(11133830_?)del
|
|
|
|
NC_000019.10:g.11089310AG[1]
|
|
|
|
NC_000019.10:g.11089319del
|
|
|
|
NC_000019.10:g.11089321G>C
|
|
|
|
NC_000019.10:g.11089322G>C
|
rs1555800612
|
|
|
NC_000019.10:g.11089329A>T
|
|
|
|
NC_000019.10:g.11089329dup
|
rs879254359
|
|
|
NC_000019.10:g.11089332C>G
|
rs17249141
|
|
|
NC_000019.10:g.11089333G>T
|
|
|
|
NC_000019.10:g.11089334A>C
|
|
|
|
NC_000019.10:g.11089334A>G
|
rs879254360
|
|
|
NC_000019.10:g.11089334A>T
|
|
|
|
NC_000019.10:g.11089335T>C
|
|
|
|
NC_000019.10:g.11089341A>T
|
rs879254361
|
|
|
NC_000019.10:g.11089342T>C
|
|
|
|
NC_000019.10:g.11089343C>T
|
rs549995837
|
|
|
NC_000019.10:g.11089346C>T
|
|
|
|
NC_000019.10:g.11089351C>T
|
|
|
|
NC_000019.10:g.11089351del
|
|
|
|
NC_000019.10:g.11089352G>A
|
rs2077054310
|
|
|
NC_000019.10:g.11089356C>G
|
|
|
|
NC_000019.10:g.11089356_11089363delinsTG
|
rs879254362
|
|
|
NC_000019.10:g.11089358C>T
|
|
|
|
NC_000019.10:g.11089362C>T
|
rs2077054466
|
|
|
NC_000019.10:g.11089364C>T
|
|
|
|
NC_000019.10:g.11089364_11089366del
|
rs879254363
|
|
|
NC_000019.10:g.11089371T>C
|
|
|
|
NC_000019.10:g.11089372G>T
|
|
|
|
NC_000019.10:g.11089383A>C
|
|
|
|
NC_000019.10:g.11089391A>T
|
|
|
|
NC_000019.10:g.11089393C>T
|
rs879254364
|
|
|
NC_000019.10:g.11089394_11089395delinsTTCTGCAAACTCCT
|
rs879254365
|
|
|
NC_000019.10:g.11089397C>T
|
|
|
|
NC_000019.10:g.11089398C>A
|
|
|
|
NC_000019.10:g.11089400C>A
|
rs879254368
|
|
|
NC_000019.10:g.11089401T>C
|
|
|
|
NC_000019.10:g.11089403C>A
|
rs879254369
|
|
|
NC_000019.10:g.11089407C>G
|
rs879254370
|
|
|
NC_000019.10:g.11089407C>T
|
rs879254370
|
|
|
NC_000019.10:g.11089409C>G
|
rs875989887
|
|
|
NC_000019.10:g.11089409C>T
|
rs875989887
|
|
|
NC_000019.10:g.11089410C>A
|
rs879254371
|
|
|
NC_000019.10:g.11089410C>T
|
rs879254371
|
|
|
NC_000019.10:g.11089411T>C
|
rs879254372
|
|
|
NC_000019.10:g.11089411del
|
rs387906307
|
|
|
NC_000019.10:g.11089412C>T
|
rs879254373
|
|
|
NC_000019.10:g.11089413C>A
|
rs879254374
|
|
|
NC_000019.10:g.11089413C>G
|
rs879254374
|
|
|
NC_000019.10:g.11089413C>T
|
rs879254374
|
|
|
NC_000019.10:g.11089414C>G
|
|
|
|
NC_000019.10:g.11089420T>G
|
|
|
|
NC_000019.10:g.11089421A>G
|
|
|
|
NC_000019.10:g.11089426C>T
|
|
|
|
NC_000019.10:g.11089427C>A
|
rs1568582299
|
|
|
NC_000019.10:g.11089430A>C
|
|
|
|
NC_000019.10:g.11089432A>G
|
|
|
|
NC_000019.10:g.11089446A>T
|
|
|
|
NC_000019.10:g.11089448T>C
|
rs747068848
|
|
|
NC_000019.10:g.11089452G>A
|
rs944580031
|
|
|
NC_000019.10:g.11089455G>A
|
|
|
|
NC_000019.10:g.11089455G>T
|
rs1212116636
|
|
|
NC_000019.10:g.11089460C>T
|
|
|
|
NC_000019.10:g.11089461G>A
|
|
|
|
NC_000019.10:g.11123174_11123344del
|
rs1555808008
|
|
|
NC_000019.10:g.11136960G>T
|
|
|
|
NC_000019.9:g.(11211022_11213339)_(11244497_?)del
|
|
|
|
NC_000019.9:g.(11212181_11213340)_(11218190_11219759)del
|
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|
NC_000019.9:g.(11213519_11215396)_(11244426_11256864)del
|
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NC_000019.9:g.(11216759_11217241)_(11217363_11217715)del
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NC_000019.9:g.(11227675_11230767)_(11231199_11233849)del
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|
NC_000019.9:g.(11236353_11238684)_(11240346_11241151)del
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|
|
NC_000019.9:g.(?_11199955)_(11200311_?)del
|
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|
|
NC_000019.9:g.(?_11199955)_(11200311_?)dup
|
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|
|
NC_000019.9:g.(?_11199955)_(11218210_?)dup
|
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|
|
NC_000019.9:g.(?_11200038)_(11211022_11213339)del
|
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|
NC_000019.9:g.(?_11210879)_(11211041_?)del
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NC_000019.9:g.(?_11210879)_(11216296_?)del
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NC_000019.9:g.(?_11210879)_(11218210_?)dup
|
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|
|
NC_000019.9:g.(?_11210879)_(11221467_?)dup
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NC_000019.9:g.(?_11210879)_(11222335_?)dup
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|
NC_000019.9:g.(?_11210879)_(11227694_?)dup
|
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|
NC_000019.9:g.(?_11212605)_(11217283_?)del
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|
NC_000019.9:g.(?_11213320)_(11213482_?)del
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NC_000019.9:g.(?_11213320)_(11216296_?)del
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|
|
NC_000019.9:g.(?_11213320)_(11217383_?)del
|
|
|
|
NC_000019.9:g.(?_11213320)_(11218210_?)dup
|
|
|
|
NC_000019.9:g.(?_11213320)_(11224458_?)del
|
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|
NC_000019.9:g.(?_11213330)_(11222326_?)del
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|
NC_000019.9:g.(?_11213330)_(11227689_?)dup
|
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|
NC_000019.9:g.(?_11215876)_(11216296_?)del
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|
NC_000019.9:g.(?_11215876)_(11217383_?)del
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|
NC_000019.9:g.(?_11215876)_(11222335_?)dup
|
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|
NC_000019.9:g.(?_11215876)_(11224458_?)dup
|
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|
|
NC_000019.9:g.(?_11215876)_(11241992_?)del
|
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|
|
NC_000019.9:g.(?_11215886)_(11221471_?)del
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|
NC_000019.9:g.(?_11217221)_(11217383_?)del
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|
NC_000019.9:g.(?_11217231)_(11218204_?)del
|
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|
NC_000019.9:g.(?_11217231)_(11224448_?)del
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|
NC_000019.9:g.(?_11218048)_(11218210_?)del
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|
NC_000019.9:g.(?_11221289)_(11221471_?)del
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|
NC_000019.9:g.(?_11221308)_(11224458_?)del
|
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|
NC_000019.9:g.(?_11221308)_(11234040_?)del
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|
NC_000019.9:g.(?_11221308)_(11234040_?)dup
|
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|
NC_000019.9:g.(?_11222190)_(11227674_?)del
|
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|
NC_000019.9:g.(?_11223934)_(11224458_?)del
|
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|
NC_000019.9:g.(?_11223934)_(11224458_?)dup
|
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|
NC_000019.9:g.(?_11223934)_(11231218_?)del
|
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|
|
NC_000019.9:g.(?_11223934)_(11231218_?)dup
|
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|
NC_000019.9:g.(?_11223934)_(11234040_?)del
|
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|
|
NC_000019.9:g.(?_11223934)_(11241992_?)del
|
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|
|
NC_000019.9:g.(?_11223944)_(11227689_?)del
|
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|
|
NC_000019.9:g.(?_11223948)_(11241997_?)del
|
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|
NC_000019.9:g.(?_11226750)_(11227694_?)dup
|
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|
|
NC_000019.9:g.(?_11226750)_(11231218_?)del
|
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|
|
NC_000019.9:g.(?_11226750)_(11241992_?)del
|
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|
|
NC_000019.9:g.(?_11227515)_(11227694_?)del
|
|
|
|
NC_000019.9:g.(?_11227515)_(11241992_?)del
|
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|
|
NC_000019.9:g.(?_11230748)_(11231218_?)del
|
|
|
|
NC_000019.9:g.(?_11230748)_(11231218_?)dup
|
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|
NC_000019.9:g.(?_11230748)_(11234040_?)del
|
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|
|
NC_000019.9:g.(?_11230748)_(11234040_?)dup
|
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|
|
NC_000019.9:g.(?_11230748)_(11240366_?)dup
|
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|
NC_000019.9:g.(?_11230748)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11230758)_(11240356_?)dup
|
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|
|
NC_000019.9:g.(?_11230768)_(11240346_?)dup
|
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|
|
NC_000019.9:g.(?_11230813)_(11235085_?)del
|
|
|
|
NC_000019.9:g.(?_11233830)_(11234040_?)del
|
|
|
|
NC_000019.9:g.(?_11233830)_(11238781_?)del
|
|
|
|
NC_000019.9:g.(?_11233830)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11233830)_(11242035_?)dup
|
|
|
|
NC_000019.9:g.(?_11234271)_(11242805_?)dup
|
|
|
|
NC_000019.9:g.(?_11238664)_(11238781_?)dup
|
|
|
|
NC_000019.9:g.(?_11238664)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11238664)_(11242870_?)dup
|
|
|
|
NC_000019.9:g.(?_11238684)_(11248011_?)dup
|
|
|
|
NC_000019.9:g.(?_11240169)_(11240366_?)del
|
|
|
|
NC_000019.9:g.(?_11240169)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11240179)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11240188)_(11240347_?)del
|
|
|
|
NC_000019.9:g.(?_11241937)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11241937)_(11241992_?)dup
|
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|
|
NC_000019.9:g.11194081_11213281del
|
|
|
|
NC_000019.9:g.11215453_11223569dup
|
|
|
|
NC_000019.9:g.11224039_11224040ins(96)
|
|
|
|
NG_009060.1(LDLR):g.15965TG[3]
|
|
|
|
NG_009060.1(LDLR):g.4976CTC[2]
|
rs1270618112
|
|
|
NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del
|
|
|
|
NM_000527.4(LDLR):c.(1586+1_1587-1)_(2547+1_2548-1)del
|
|
|
|
NM_000527.4(LDLR):c.(1845+1_1846-1)_(*_?)del
|
|
|
|
NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del
|
|
|
|
NM_000527.4(LDLR):c.(2311+1_2312-1)_(2547+1_2548-1)del
|
|
|
|
NM_000527.4(LDLR):c.(2389+1_2390-1)_(*_?)del
|
|
|
|
NM_000527.4(LDLR):c.(313+1_314-1)_(1586+1_1587-1)dup
|
|
|
|
NM_000527.4(LDLR):c.(313+1_314-1)_(940+1_941-1)del
|
|
|
|
NM_000527.4(LDLR):c.(67+1_68-1)_(1586+1_1587-1)del
|
|
|
|
NM_000527.4(LDLR):c.(67+1_68-1)_(2311+1_2312-1)dup
|
|
|
|
NM_000527.4(LDLR):c.(940+1_941-1)_(1186+1_1187-1)del
|
|
|
|
NM_000527.4(LDLR):c.(940+1_941-1)_(1586+1_1587-1)del
|
|
|
|
NM_000527.4(LDLR):c.(940+1_941-1)_(1845+1_1846-1)del
|
|
|
|
NM_000527.4(LDLR):c.(?_-1)_(1845+1_1846-1)dup
|
|
|
|
NM_000527.4(LDLR):c.(?_-1)_(67+1_68-1)del
|
|
|
|
NM_000527.4(LDLR):c.-107T>C
|
rs1568582310
|
|
|
NM_000527.4(LDLR):c.-120C>A
|
rs875989886
|
|
|
NM_000527.4(LDLR):c.-122C>T
|
rs1568582299
|
|
|
NM_000527.4(LDLR):c.-124dup
|
rs1057519649
|
|
|
NM_000527.4(LDLR):c.-133C>T
|
rs2077055227
|
|
|
NM_000527.4(LDLR):c.-135C>A
|
rs879254375
|
|
|
NM_000527.4(LDLR):c.-139_-130delCTCCCCCTGC
|
rs2077055015
|
|
|
NM_000527.4(LDLR):c.-140C>A
|
|
|
|
NM_000527.4(LDLR):c.-150A>G
|
rs1555800632
|
|
|
NM_000527.4(LDLR):c.-151C>G
|
rs1555800631
|
|
|
NM_000527.4(LDLR):c.-155_-150delACCCCA
|
rs1057519648
|
|
|
NM_000527.4(LDLR):c.-166A>G
|
rs1238262444
|
|
|
NM_000527.4(LDLR):c.-168A>G
|
rs1057519647
|
|
|
NM_000527.4(LDLR):c.-169G>C
|
rs1230170597
|
|
|
NM_000527.4(LDLR):c.-172G>A
|
rs1555800629
|
|
|
NM_000527.4(LDLR):c.-187-?_940+?dup
|
|
|
|
NM_000527.4(LDLR):c.-193_-187delinsTG
|
rs1555800620
|
|
|
NM_000527.4(LDLR):c.-229_-90del
|
rs1555800611
|
|
|
NM_000527.4(LDLR):c.-97G>T
|
rs944580031
|
|
|
NM_000527.4(LDLR):c.-98C>T
|
rs1555800648
|
|
|
NM_000527.4(LDLR):c.-99A>G
|
rs1057519650
|
|
|
NM_000527.4(LDLR):c.1061-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.1061-?_1845+?del
|
|
|
|
NM_000527.4(LDLR):c.1187-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.1187-?_1845+?del
|
|
|
|
NM_000527.4(LDLR):c.1359-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.1587-?_1845+?del
|
|
|
|
NM_000527.4(LDLR):c.1587-?_2140+?del
|
|
|
|
NM_000527.4(LDLR):c.1587-?_2311+?del
|
|
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
|
NM_000527.4(LDLR):c.1706-?_1845+?del
|
|
|
|
NM_000527.4(LDLR):c.1706-?_2311+?del
|
|
|
|
NM_000527.4(LDLR):c.1846-?_1987+?del
|
|
|
|
NM_000527.4(LDLR):c.1846-?_2140+?dup
|
|
|
|
NM_000527.4(LDLR):c.1846-?_2311+?del
|
|
|
|
NM_000527.4(LDLR):c.191-?_1186+?dup
|
|
|
|
NM_000527.4(LDLR):c.191-?_313+?dup
|
|
|
|
NM_000527.4(LDLR):c.191-?_940+?del
|
|
|
|
NM_000527.4(LDLR):c.2141-?_(2583_?)del
|
|
|
|
NM_000527.4(LDLR):c.2141-?_2311+?del
|
|
|
|
NM_000527.4(LDLR):c.2141-?_2389+?del
|
|
|
|
NM_000527.4(LDLR):c.2312-?_*2514del
|
|
|
|
NM_000527.4(LDLR):c.2312-?_2389+?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.314-?_1060+?del
|
|
|
|
NM_000527.4(LDLR):c.314-?_694+?del
|
|
|
|
NM_000527.4(LDLR):c.314-?_940+?del
|
|
|
|
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)
|
rs387906306
|
|
|
NM_000527.4(LDLR):c.68-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.680_681ins(21)
|
|
|
|
NM_000527.4(LDLR):c.680_682delACGins14 (p.?)
|
|
|
|
NM_000527.4(LDLR):c.680_692delACGAGGAAAACTGins24 (p.?)
|
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
|
NM_000527.4(LDLR):c.695-?_817+?del
|
|
|
|
NM_000527.4(LDLR):c.818-?_1186+?del
|
|
|
|
NM_000527.4(LDLR):c.818-?_940+?del
|
|
|
|
NM_000527.4(LDLR):c.941-?_1060+?del
|
|
|
|
NM_000527.4(LDLR):c.941-?_1186+?dup
|
|
|
|
NM_000527.4(LDLR):c.941-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.941-?_1586+?dup
|
|
|
|
NM_000527.4(LDLR):c.941-?_1705+?dup
|
|
|
|
NM_000527.4(LDLR):c.941-?_1845+?del
|
|
|
|
NM_000527.4(LDLR):c.941-?_1845+?dup
|
|
|
|
NM_000527.4(LDLR):c.[649_654dupGATGGT;657_661delCCCCG]
|
|
|
|
NM_000527.4:c.(1705+1_1706-1)_(1845+1_1846-1)del
|
|
|
|
NM_000527.4:c.(1845+1_1846-1)_(2311+1_2312-1)del
|
|
|
|
NM_000527.4:c.(2140+1_2141-1)_(2389+1_2390-1)del
|
|
|
|
NM_000527.4:c.(313+1_314-1)_(1186+1_1187-1)del
|
|
|
|
NM_000527.4:c.(67+1_68-1)_(1845+1_1846-1)del
|
|
|
|
NM_000527.4:c.(?_-1)_(940+1_941-1)del
|
|
|
|
NM_000527.4:c.[1979A>C;2359G>A]
|
|
|
|
NM_000527.4:c.[829G>A;1268T>C]
|
|
|
|
NM_000527.4:c.[932A>G;939C>G]
|
|
|
|
NM_000527.5(LDLR):c.*1130A>G
|
rs958607333
|
|
|
NM_000527.5(LDLR):c.*1153G>A
|
rs886054171
|
|
|
NM_000527.5(LDLR):c.*1217C>G
|
rs3180023
|
|
|
NM_000527.5(LDLR):c.*1232CTA[1]
|
rs398059563
|
|
|
NM_000527.5(LDLR):c.*1393C>A
|
rs571673106
|
|
|
NM_000527.5(LDLR):c.*1430C>A
|
rs7254521
|
|
|
NM_000527.5(LDLR):c.*1558C>T
|
rs1334375934
|
|
|
NM_000527.5(LDLR):c.*1609G>T
|
rs886054174
|
|
|
NM_000527.5(LDLR):c.*1831T>A
|
rs886054177
|
|
|
NM_000527.5(LDLR):c.*1916A>G
|
rs886054180
|
|
|
NM_000527.5(LDLR):c.*1917G>A
|
rs886054181
|
|
|
NM_000527.5(LDLR):c.*1931A>G
|
rs886054182
|
|
|
NM_000527.5(LDLR):c.*1A>G
|
rs2077715480
|
|
|
NM_000527.5(LDLR):c.*2076dup
|
rs545860269
|
|
|
NM_000527.5(LDLR):c.*2098C>G
|
|
|
|
NM_000527.5(LDLR):c.*2126G>A
|
rs142697277
|
|
|
NM_000527.5(LDLR):c.*2132G>A
|
rs184187776
|
|
|
NM_000527.5(LDLR):c.*2136A>G
|
|
|
|
NM_000527.5(LDLR):c.*2196TA[12]
|
rs3980933
|
|
|
NM_000527.5(LDLR):c.*2196TA[7]
|
rs3980933
|
|
|
NM_000527.5(LDLR):c.*2208T>C
|
rs886054185
|
|
|
NM_000527.5(LDLR):c.*2212CA[4]
|
rs886054186
|
|
|
NM_000527.5(LDLR):c.*223G>A
|
rs17243011
|
|
|
NM_000527.5(LDLR):c.*2350C>G
|
rs565264863
|
|
|
NM_000527.5(LDLR):c.*2366G>T
|
rs886054189
|
|
|
NM_000527.5(LDLR):c.*2384G>T
|
rs886054190
|
|
|
NM_000527.5(LDLR):c.*372C>A
|
rs886054158
|
|
|
NM_000527.5(LDLR):c.*43G>A
|
rs879254527
|
|
|
NM_000527.5(LDLR):c.*503C>T
|
rs574677226
|
|
|
NM_000527.5(LDLR):c.*523G>T
|
rs886054160
|
|
|
NM_000527.5(LDLR):c.*563G>T
|
rs886054161
|
|
|
NM_000527.5(LDLR):c.*579G>T
|
rs886054162
|
|
|
NM_000527.5(LDLR):c.*716C>T
|
rs951251390
|
|
|
NM_000527.5(LDLR):c.*717G>A
|
|
|
|
NM_000527.5(LDLR):c.*784C>T
|
rs886054164
|
|
|
NM_000527.5(LDLR):c.*849A>C
|
rs1052078773
|
|
|
NM_000527.5(LDLR):c.*854G>T
|
rs886054166
|
|
|
NM_000527.5(LDLR):c.*942G>A
|
rs886054167
|
|
|
NM_000527.5(LDLR):c.*946C>A
|
rs886054168
|
|
|
NM_000527.5(LDLR):c.*965C>T
|
rs72658874
|
|
|
NM_000527.5(LDLR):c.-13dup
|
|
|
|
NM_000527.5(LDLR):c.-16G>C
|
|
|
|
NM_000527.5(LDLR):c.-17T>C
|
|
|
|
NM_000527.5(LDLR):c.-188C>T
|
rs878854023
|
|
|
NM_000527.5(LDLR):c.-18C>T
|
|
|
|
NM_000527.5(LDLR):c.-190C>T
|
rs2077054428
|
|
|
NM_000527.5(LDLR):c.-22C>T
|
|
|
|
NM_000527.5(LDLR):c.-22del
|
rs879254379
|
|
|
NM_000527.5(LDLR):c.-23A>G
|
rs763282380
|
|
|
NM_000527.5(LDLR):c.-25A>T
|
|
|
|
NM_000527.5(LDLR):c.-28G>C
|
rs1131692188
|
|
|
NM_000527.5(LDLR):c.-36T>A
|
|
|
|
NM_000527.5(LDLR):c.-36T>G
|
rs879254378
|
|
|
NM_000527.5(LDLR):c.-45A>T
|
rs2147186240
|
|
|
NM_000527.5(LDLR):c.-46C>A
|
|
|
|
NM_000527.5(LDLR):c.-47G>T
|
|
|
|
NM_000527.5(LDLR):c.-48A>G
|
|
|
|
NM_000527.5(LDLR):c.-4G>A
|
|
|
|
NM_000527.5(LDLR):c.-55_-52del
|
rs2077055920
|
|
|
NM_000527.5(LDLR):c.-56T>C
|
|
|
|
NM_000527.5(LDLR):c.-5C>T
|
rs879254381
|
|
|
NM_000527.5(LDLR):c.-63T>C
|
|
|
|
NM_000527.5(LDLR):c.-68A>C
|
rs879254377
|
|
|
NM_000527.5(LDLR):c.-74del
|
|
|
|
NM_000527.5(LDLR):c.-75G>A
|
|
|
|
NM_000527.5(LDLR):c.-75G>C
|
|
|
|
NM_000527.5(LDLR):c.-79C>A
|
|
|
|
NM_000527.5(LDLR):c.-80T>C
|
|
|
|
NM_000527.5(LDLR):c.-84G>A
|
|
|
|
NM_000527.5(LDLR):c.-8C>A
|
rs2147186383
|
|
|
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.1005del (p.Tyr336fs)
|
|
|
|
NM_000527.5(LDLR):c.1006T>G (p.Tyr336Asp)
|
rs759398558
|
|
|
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys)
|
rs879254750
|
|
|
NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter)
|
rs767024374
|
|
|
NM_000527.5(LDLR):c.1008del (p.Gly335_Tyr336insTer)
|
rs879254751
|
|
|
NM_000527.5(LDLR):c.1009_1014del (p.Glu337_Cys338del)
|
|
|
|
NM_000527.5(LDLR):c.1009_1032del (p.Glu337_Phe344del)
|
rs879254752
|
|
|
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.1011G>C (p.Glu337Asp)
|
|
|
|
NM_000527.5(LDLR):c.1011G>T (p.Glu337Asp)
|
|
|
|
NM_000527.5(LDLR):c.1011_1025del (p.Glu337_Pro341del)
|
rs1568600459
|
|
|
NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser)
|
rs879254753
|
|
|
NM_000527.5(LDLR):c.1012T>C (p.Cys338Arg)
|
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.1013G>C (p.Cys338Ser)
|
rs879254754
|
|
|
NM_000527.5(LDLR):c.1013G>T (p.Cys338Phe)
|
rs879254754
|
|
|
NM_000527.5(LDLR):c.1014C>A (p.Cys338Ter)
|
rs879254755
|
|
|
NM_000527.5(LDLR):c.1014C>G (p.Cys338Trp)
|
rs879254755
|
|
|
NM_000527.5(LDLR):c.1014C>T (p.Cys338=)
|
rs879254755
|
|
|
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
|
|
|
|
NM_000527.5(LDLR):c.1017dup (p.Cys340fs)
|
rs879254757
|
|
|
NM_000527.5(LDLR):c.1018T>G (p.Cys340Gly)
|
|
|
|
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.101G>C (p.Cys34Ser)
|
rs879254406
|
|
|
NM_000527.5(LDLR):c.1020C>A (p.Cys340Ter)
|
|
|
|
NM_000527.5(LDLR):c.1020C>T (p.Cys340=)
|
rs777524402
|
|
|
NM_000527.5(LDLR):c.1022C>G (p.Pro341Arg)
|
rs879254759
|
|
|
NM_000527.5(LDLR):c.1023C>G (p.Pro341=)
|
|
|
|
NM_000527.5(LDLR):c.1023del (p.Asp342fs)
|
rs1600720921
|
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
|
NM_000527.5(LDLR):c.1024G>C (p.Asp342His)
|
|
|
|
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.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.1029C>G (p.Gly343=)
|
|
|
|
NM_000527.5(LDLR):c.102C>A (p.Cys34Ter)
|
rs879254407
|
|
|
NM_000527.5(LDLR):c.102C>G (p.Cys34Trp)
|
rs879254407
|
|
|
NM_000527.5(LDLR):c.102C>T (p.Cys34=)
|
|
|
|
NM_000527.5(LDLR):c.1031del (p.Phe344fs)
|
rs879254761
|
|
|
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
|
|
|
|
NM_000527.5(LDLR):c.1034dup (p.Leu346fs)
|
rs879254762
|
|
|
NM_000527.5(LDLR):c.1035G>A (p.Gln345=)
|
|
|
|
NM_000527.5(LDLR):c.1036C>G (p.Leu346Val)
|
|
|
|
NM_000527.5(LDLR):c.1037_1039delinsCGGA (p.Leu346fs)
|
|
|
|
NM_000527.5(LDLR):c.1039_1040insA (p.Val347fs)
|
|
|
|
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter)
|
rs879254408
|
|
|
NM_000527.5(LDLR):c.103del (p.Gln35fs)
|
rs2147210233
|
|
|
NM_000527.5(LDLR):c.1042_1043insA (p.Ala348fs)
|
rs879254763
|
|
|
NM_000527.5(LDLR):c.1042del (p.Ala348fs)
|
rs879254764
|
|
|
NM_000527.5(LDLR):c.1043C>T (p.Ala348Val)
|
rs2147239182
|
|
|
NM_000527.5(LDLR):c.1044C>T (p.Ala348=)
|
rs2147239196
|
|
|
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter)
|
rs748300548
|
|
|
NM_000527.5(LDLR):c.1045del (p.Gln349fs)
|
rs879254765
|
|
|
NM_000527.5(LDLR):c.1045dup (p.Gln349fs)
|
rs879254765
|
|
|
NM_000527.5(LDLR):c.1046del (p.Gln349fs)
|
rs879254767
|
|
|
NM_000527.5(LDLR):c.1046dup (p.Arg350fs)
|
rs1555804545
|
|
|
NM_000527.5(LDLR):c.1048C>A (p.Arg350=)
|
|
|
|
NM_000527.5(LDLR):c.1048C>G (p.Arg350Gly)
|
|
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
|
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)
|
rs875989914
|
|
|
NM_000527.5(LDLR):c.1050A>C (p.Arg350=)
|
rs1555804560
|
|
|
NM_000527.5(LDLR):c.1050A>G (p.Arg350=)
|
|
|
|
NM_000527.5(LDLR):c.1053_1060dup (p.Ile355fs)
|
rs879254768
|
|
|
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser)
|
rs879254769
|
|
|
NM_000527.5(LDLR):c.1054T>C (p.Cys352Arg)
|
rs879254769
|
|
|
NM_000527.5(LDLR):c.1054_1056del (p.Cys352del)
|
rs2077364374
|
|
|
NM_000527.5(LDLR):c.1054_1064del (p.Cys352fs)
|
|
|
|
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.1057G>T (p.Glu353Ter)
|
rs370471092
|
|
|
NM_000527.5(LDLR):c.105A>G (p.Gln35=)
|
|
|
|
NM_000527.5(LDLR):c.105_110del (p.Asp36_Gly37del)
|
rs1555802270
|
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
|
NM_000527.5(LDLR):c.1060+10G>C
|
|
|
|
NM_000527.5(LDLR):c.1060+10G>T
|
rs12710260
|
|
|
NM_000527.5(LDLR):c.1060+10_1060+11delinsCA
|
rs2077364942
|
|
|
NM_000527.5(LDLR):c.1060+10_1060+11inv
|
|
|
|
NM_000527.5(LDLR):c.1060+11G>A
|
|
|
|
NM_000527.5(LDLR):c.1060+12G>A
|
|
|
|
NM_000527.5(LDLR):c.1060+12G>T
|
|
|
|
NM_000527.5(LDLR):c.1060+133C>T
|
|
|
|
NM_000527.5(LDLR):c.1060+15G>T
|
|
|
|
NM_000527.5(LDLR):c.1060+16G>T
|
|
|
|
NM_000527.5(LDLR):c.1060+16dup
|
rs879254772
|
|
|
NM_000527.5(LDLR):c.1060+18C>T
|
|
|
|
NM_000527.5(LDLR):c.1060+1G>A
|
rs879254771
|
|
|
NM_000527.5(LDLR):c.1060+1G>T
|
rs879254771
|
|
|
NM_000527.5(LDLR):c.1060+26T>G
|
rs375850141
|
|
|
NM_000527.5(LDLR):c.1060+39C>G
|
rs777644641
|
|
|
NM_000527.5(LDLR):c.1060+7=
|
|
|
|
NM_000527.5(LDLR):c.1060+7C>G
|
|
|
|
NM_000527.5(LDLR):c.1060G>A (p.Asp354Asn)
|
|
|
|
NM_000527.5(LDLR):c.1061-11C>T
|
|
|
|
NM_000527.5(LDLR):c.1061-143C>T
|
|
|
|
NM_000527.5(LDLR):c.1061-14TC[3]
|
|
|
|
NM_000527.5(LDLR):c.1061-15_1061-14del
|
|
|
|
NM_000527.5(LDLR):c.1061-19C>T
|
|
|
|
NM_000527.5(LDLR):c.1061-1G>A
|
rs879254774
|
|
|
NM_000527.5(LDLR):c.1061-1G>T
|
rs879254774
|
|
|
NM_000527.5(LDLR):c.1061-2A>G
|
rs879254773
|
|
|
NM_000527.5(LDLR):c.1061-2A>T
|
|
|
|
NM_000527.5(LDLR):c.1061-8T>A
|
rs72658861
|
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
|
NM_000527.5(LDLR):c.1061-8_1061-5del
|
|
|
|
NM_000527.5(LDLR):c.1061-9C>T
|
|
|
|
NM_000527.5(LDLR):c.1061A>C (p.Asp354Ala)
|
rs755449669
|
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
|
NM_000527.5(LDLR):c.1062T>C (p.Asp354=)
|
rs2147241169
|
|
|
NM_000527.5(LDLR):c.1062dup (p.Ile355fs)
|
rs879254775
|
|
|
NM_000527.5(LDLR):c.1063del (p.Ile355fs)
|
|
|
|
NM_000527.5(LDLR):c.1064dup (p.Asp356fs)
|
rs1555804700
|
|
|
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>C (p.Asp356Ala)
|
rs879254777
|
|
|
NM_000527.5(LDLR):c.1067A>T (p.Asp356Val)
|
rs879254777
|
|
|
NM_000527.5(LDLR):c.1067_1068insAGAGTGTCAGGATCCCGA (p.Ile355_Asp356insGluGluCysGlnAspPro)
|
|
|
|
NM_000527.5(LDLR):c.1067del (p.Asp356fs)
|
rs879254778
|
|
|
NM_000527.5(LDLR):c.1068T>C (p.Asp356=)
|
|
|
|
NM_000527.5(LDLR):c.1068delinsAGAGTGTCAGGATCCCGAC (p.Ile355_Asp356insGluGluCysGlnAspPro)
|
rs879254779
|
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
|
NM_000527.5(LDLR):c.1069G>C (p.Glu357Gln)
|
|
|
|
NM_000527.5(LDLR):c.1069_1086dup (p.Glu357_Asp362dup)
|
rs879254780
|
|
|
NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr)
|
rs2147210262
|
|
|
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly)
|
rs753248521
|
|
|
NM_000527.5(LDLR):c.1070_1071dup (p.Cys358fs)
|
rs2147241240
|
|
|
NM_000527.5(LDLR):c.1070_1073dup (p.Cys358Ter)
|
rs879254782
|
|
|
NM_000527.5(LDLR):c.1070del (p.Glu357fs)
|
rs1555804717
|
|
|
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.1075C>A (p.Gln359Lys)
|
|
|
|
NM_000527.5(LDLR):c.1075C>T (p.Gln359Ter)
|
rs879254784
|
|
|
NM_000527.5(LDLR):c.1076_1081del (p.Gln359_Asp360del)
|
rs879254785
|
|
|
NM_000527.5(LDLR):c.1081C>T (p.Pro361Ser)
|
rs1131692203
|
|
|
NM_000527.5(LDLR):c.1083C>T (p.Pro361=)
|
rs567564778
|
|
|
NM_000527.5(LDLR):c.1085del (p.Asp362fs)
|
rs879254786
|
|
|
NM_000527.5(LDLR):c.1086C>T (p.Asp362=)
|
|
|
|
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn)
|
rs200533979
|
|
|
NM_000527.5(LDLR):c.1088C>T (p.Thr363Ile)
|
|
|
|
NM_000527.5(LDLR):c.1089C>T (p.Thr363=)
|
rs2147241371
|
|
|
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu)
|
rs373144619
|
|
|
NM_000527.5(LDLR):c.108_109insT (p.Gly37fs)
|
rs2147210293
|
|
|
NM_000527.5(LDLR):c.108del (p.Asp36fs)
|
rs879254409
|
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
|
NM_000527.5(LDLR):c.1090T>G (p.Cys364Gly)
|
|
|
|
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr)
|
rs879254788
|
|
|
NM_000527.5(LDLR):c.1091G>C (p.Cys364Ser)
|
rs879254788
|
|
|
NM_000527.5(LDLR):c.1091G>T (p.Cys364Phe)
|
rs879254788
|
|
|
NM_000527.5(LDLR):c.1092C>A (p.Cys364Ter)
|
rs1555804729
|
|
|
NM_000527.5(LDLR):c.1092C>T (p.Cys364=)
|
rs1555804729
|
|
|
NM_000527.5(LDLR):c.1093A>G (p.Ser365Gly)
|
|
|
|
NM_000527.5(LDLR):c.1096C>T (p.Gln366Ter)
|
rs879254789
|
|
|
NM_000527.5(LDLR):c.1097A>C (p.Gln366Pro)
|
rs746982741
|
|
|
NM_000527.5(LDLR):c.1098_1109del (p.Gln366_Asn370delinsHis)
|
rs878854024
|
|
|
NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)
|
|
|
|
NM_000527.5(LDLR):c.109G>A (p.Gly37Arg)
|
rs2077193497
|
|
|
NM_000527.5(LDLR):c.1101C>T (p.Leu367=)
|
|
|
|
NM_000527.5(LDLR):c.1102T>A (p.Cys368Ser)
|
|
|
|
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.1104C>A (p.Cys368Ter)
|
rs113669610
|
|
|
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr)
|
rs879254792
|
|
|
NM_000527.5(LDLR):c.1109A>T (p.Asn370Ile)
|
|
|
|
NM_000527.5(LDLR):c.1110C>G (p.Asn370Lys)
|
rs879254793
|
|
|
NM_000527.5(LDLR):c.1111C>T (p.Leu371=)
|
rs2147241475
|
|
|
NM_000527.5(LDLR):c.1113_1114insTGGG (p.Glu372fs)
|
rs879254794
|
|
|
NM_000527.5(LDLR):c.1114G>C (p.Glu372Gln)
|
|
|
|
NM_000527.5(LDLR):c.1114G>T (p.Glu372Ter)
|
rs1131692204
|
|
|
NM_000527.5(LDLR):c.1115_1123delinsCACTGA (p.Glu372_Tyr375delinsAlaLeuAsn)
|
rs879254795
|
|
|
NM_000527.5(LDLR):c.1117G>T (p.Gly373Cys)
|
rs879254796
|
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
|
|
|
NM_000527.5(LDLR):c.1118G>C (p.Gly373Ala)
|
rs879254797
|
|
|
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.1118dup (p.Gly374fs)
|
rs2147241499
|
|
|
NM_000527.5(LDLR):c.111G>A (p.Gly37=)
|
|
|
|
NM_000527.5(LDLR):c.111G>C (p.Gly37=)
|
|
|
|
NM_000527.5(LDLR):c.1120_1121delinsTC (p.Gly374Ser)
|
rs879254798
|
|
|
NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs)
|
rs879254799
|
|
|
NM_000527.5(LDLR):c.1121G>A (p.Gly374Asp)
|
|
|
|
NM_000527.5(LDLR):c.1122C>G (p.Gly374=)
|
|
|
|
NM_000527.5(LDLR):c.1122C>T (p.Gly374=)
|
rs2077376999
|
|
|
NM_000527.5(LDLR):c.1123T>G (p.Tyr375Asp)
|
|
|
|
NM_000527.5(LDLR):c.1123_1124insC (p.Tyr375fs)
|
rs1555804777
|
|
|
NM_000527.5(LDLR):c.1124A>C (p.Tyr375Ser)
|
rs879254800
|
|
|
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)
|
rs879254800
|
|
|
NM_000527.5(LDLR):c.1125C>T (p.Tyr375=)
|
rs1446284201
|
|
|
NM_000527.5(LDLR):c.1127A>T (p.Lys376Met)
|
rs2077377185
|
|
|
NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg)
|
|
|
|
NM_000527.5(LDLR):c.1129dup (p.Cys377fs)
|
rs2077377269
|
|
|
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr)
|
rs879254801
|
|
|
NM_000527.5(LDLR):c.1130G>C (p.Cys377Ser)
|
rs879254801
|
|
|
NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe)
|
rs879254801
|
|
|
NM_000527.5(LDLR):c.1130del (p.Cys377fs)
|
rs1131692205
|
|
|
NM_000527.5(LDLR):c.1131C>T (p.Cys377=)
|
rs1479733657
|
|
|
NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter)
|
rs879254802
|
|
|
NM_000527.5(LDLR):c.1134G>A (p.Gln378=)
|
|
|
|
NM_000527.5(LDLR):c.1134G>C (p.Gln378His)
|
|
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
|
NM_000527.5(LDLR):c.1135T>G (p.Cys379Gly)
|
rs879254803
|
|
|
NM_000527.5(LDLR):c.1135_1186+14del
|
rs1555804793
|
|
|
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr)
|
rs879254804
|
|
|
NM_000527.5(LDLR):c.1139_1153del (p.Glu380_Leu385delinsVal)
|
|
|
|
NM_000527.5(LDLR):c.1140G>A (p.Glu380=)
|
rs1168542168
|
|
|
NM_000527.5(LDLR):c.1143A>G (p.Glu381=)
|
|
|
|
NM_000527.5(LDLR):c.1144G>C (p.Gly382Arg)
|
|
|
|
NM_000527.5(LDLR):c.1145G>A (p.Gly382Asp)
|
rs752951310
|
|
|
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val)
|
rs752951310
|
|
|
NM_000527.5(LDLR):c.1146C>T (p.Gly382=)
|
rs1158580981
|
|
|
NM_000527.5(LDLR):c.114A>C (p.Lys38Asn)
|
rs2147210320
|
|
|
NM_000527.5(LDLR):c.114dup (p.Cys39fs)
|
rs879254410
|
|
|
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)
|
rs879254805
|
|
|
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro)
|
rs879254807
|
|
|
NM_000527.5(LDLR):c.1151_1159del (p.Gln384_Asp386del)
|
rs879254806
|
|
|
NM_000527.5(LDLR):c.1153C>T (p.Leu385=)
|
rs879254808
|
|
|
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.1155G>C (p.Leu385=)
|
rs1347387935
|
|
|
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.1158_1162dup (p.His388fs)
|
|
|
|
NM_000527.5(LDLR):c.115T>C (p.Cys39Arg)
|
rs1555802275
|
|
|
NM_000527.5(LDLR):c.1160C>A (p.Pro387His)
|
|
|
|
NM_000527.5(LDLR):c.1160C>T (p.Pro387Leu)
|
rs756672317
|
|
|
NM_000527.5(LDLR):c.1162C>G (p.His388Asp)
|
rs764551797
|
|
|
NM_000527.5(LDLR):c.1162_1173del (p.His388_Ala391del)
|
rs2147241831
|
|
|
NM_000527.5(LDLR):c.1162del (p.His388fs)
|
rs875989917
|
|
|
NM_000527.5(LDLR):c.1162dup (p.His388fs)
|
|
|
|
NM_000527.5(LDLR):c.1165A>G (p.Thr389Ala)
|
|
|
|
NM_000527.5(LDLR):c.1166C>A (p.Thr389Lys)
|
|
|
|
NM_000527.5(LDLR):c.1166C>G (p.Thr389Arg)
|
|
|
|
NM_000527.5(LDLR):c.1167del (p.Lys390fs)
|
rs2147241875
|
|
|
NM_000527.5(LDLR):c.1168A>T (p.Lys390Ter)
|
rs879254811
|
|
|
NM_000527.5(LDLR):c.1169A>G (p.Lys390Arg)
|
rs2077378748
|
|
|
NM_000527.5(LDLR):c.116G>A (p.Cys39Tyr)
|
|
|
|
NM_000527.5(LDLR):c.116G>T (p.Cys39Phe)
|
rs1131692189
|
|
|
NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter)
|
rs879254411
|
|
|
NM_000527.5(LDLR):c.116dup (p.Cys39fs)
|
rs2147210341
|
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
|
|
|
NM_000527.5(LDLR):c.1171G>C (p.Ala391Pro)
|
|
|
|
NM_000527.5(LDLR):c.1171del (p.Ala391fs)
|
rs2147241900
|
|
|
NM_000527.5(LDLR):c.1173C>T (p.Ala391=)
|
|
|
|
NM_000527.5(LDLR):c.1173del (p.Cys392fs)
|
rs879254812
|
|
|
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg)
|
rs879254814
|
|
|
NM_000527.5(LDLR):c.1174dup (p.Cys392fs)
|
rs879254813
|
|
|
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
|
NM_000527.5(LDLR):c.1176C>T (p.Cys392=)
|
|
|
|
NM_000527.5(LDLR):c.1177A>C (p.Lys393Gln)
|
rs1060499921
|
|
|
NM_000527.5(LDLR):c.1177A>G (p.Lys393Glu)
|
|
|
|
NM_000527.5(LDLR):c.1178A>C (p.Lys393Thr)
|
rs2147241974
|
|
|
NM_000527.5(LDLR):c.1178del (p.Lys393fs)
|
rs879254815
|
|
|
NM_000527.5(LDLR):c.1179G>A (p.Lys393=)
|
rs879254816
|
|
|
NM_000527.5(LDLR):c.1179G>C (p.Lys393Asn)
|
rs879254816
|
|
|
NM_000527.5(LDLR):c.1179G>T (p.Lys393Asn)
|
rs879254816
|
|
|
NM_000527.5(LDLR):c.117C>A (p.Cys39Ter)
|
|
|
|
NM_000527.5(LDLR):c.117C>T (p.Cys39=)
|
rs2077193721
|
|
|
NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer)
|
rs879254412
|
|
|
NM_000527.5(LDLR):c.1180G>T (p.Ala394Ser)
|
rs2077379274
|
|
|
NM_000527.5(LDLR):c.1181C>T (p.Ala394Val)
|
|
|
|
NM_000527.5(LDLR):c.1182T>C (p.Ala394=)
|
|
|
|
NM_000527.5(LDLR):c.1182del (p.Val395fs)
|
rs879254817
|
|
|
NM_000527.5(LDLR):c.1184_1185del (p.Val395fs)
|
rs1060499922
|
|
|
NM_000527.5(LDLR):c.1185G>C (p.Val395=)
|
rs879254818
|
|
|
NM_000527.5(LDLR):c.1186+10G>A
|
|
|
|
NM_000527.5(LDLR):c.1186+11G>A
|
rs879254822
|
|
|
NM_000527.5(LDLR):c.1186+15G>T
|
|
|
|
NM_000527.5(LDLR):c.1186+16C>T
|
|
|
|
NM_000527.5(LDLR):c.1186+17G>A
|
|
|
|
NM_000527.5(LDLR):c.1186+18G>T
|
|
|
|
NM_000527.5(LDLR):c.1186+19C>A
|
|
|
|
NM_000527.5(LDLR):c.1186+19C>T
|
|
|
|
NM_000527.5(LDLR):c.1186+1G>A
|
rs730880131
|
|
|
NM_000527.5(LDLR):c.1186+1G>T
|
rs730880131
|
|
|
NM_000527.5(LDLR):c.1186+1del
|
rs879254819
|
|
|
NM_000527.5(LDLR):c.1186+20G>A
|
|
|
|
NM_000527.5(LDLR):c.1186+2T>G
|
rs779921498
|
|
|
NM_000527.5(LDLR):c.1186+3G>A
|
rs1568601796
|
|
|
NM_000527.5(LDLR):c.1186+41T>A
|
rs536387604
|
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
|
NM_000527.5(LDLR):c.1186+6C>T
|
|
|
|
NM_000527.5(LDLR):c.1186+8C>G
|
rs746742171
|
|
|
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.1187-10G>T
|
rs765696008
|
|
|
NM_000527.5(LDLR):c.1187-10_1272dup
|
rs1555805127
|
|
|
NM_000527.5(LDLR):c.1187-14C>T
|
rs1284033782
|
|
|
NM_000527.5(LDLR):c.1187-18C>T
|
|
|
|
NM_000527.5(LDLR):c.1187-1G>A
|
rs879254824
|
|
|
NM_000527.5(LDLR):c.1187-1G>T
|
rs879254824
|
|
|
NM_000527.5(LDLR):c.1187-1_1187delinsTA
|
rs2147246807
|
|
|
NM_000527.5(LDLR):c.1187-2A>G
|
rs879254823
|
|
|
NM_000527.5(LDLR):c.1187-2A>T
|
|
|
|
NM_000527.5(LDLR):c.1187-3dup
|
|
|
|
NM_000527.5(LDLR):c.1187-4C>T
|
|
|
|
NM_000527.5(LDLR):c.1187-6C>T
|
|
|
|
NM_000527.5(LDLR):c.1187-7C>T
|
rs773740254
|
|
|
NM_000527.5(LDLR):c.1187-8A>G
|
rs2147246774
|
|
|
NM_000527.5(LDLR):c.1187-9G>A
|
rs896885804
|
|
|
NM_000527.5(LDLR):c.1187-9G>C
|
rs896885804
|
|
|
NM_000527.5(LDLR):c.1187G>C (p.Gly396Ala)
|
|
|
|
NM_000527.5(LDLR):c.1187G>T (p.Gly396Val)
|
rs766474188
|
|
|
NM_000527.5(LDLR):c.1187del
|
|
|
|
NM_000527.5(LDLR):c.1189T>A (p.Ser397Thr)
|
rs879254825
|
|
|
NM_000527.5(LDLR):c.1189T>C (p.Ser397Pro)
|
rs879254825
|
|
|
NM_000527.5(LDLR):c.118del (p.Ile40fs)
|
rs879254413
|
|
|
NM_000527.5(LDLR):c.1190C>T (p.Ser397Phe)
|
rs2077406646
|
|
|
NM_000527.5(LDLR):c.1191C>A (p.Ser397=)
|
|
|
|
NM_000527.5(LDLR):c.1191C>T (p.Ser397=)
|
rs2147246846
|
|
|
NM_000527.5(LDLR):c.1194C>A (p.Ile398=)
|
rs13306498
|
|
|
NM_000527.5(LDLR):c.1195G>T (p.Ala399Ser)
|
rs730882099
|
|
|
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)
|
rs875989918
|
|
|
NM_000527.5(LDLR):c.1196C>T (p.Ala399Val)
|
|
|
|
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del)
|
rs879254826
|
|
|
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)
|
rs201016593
|
|
|
NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter)
|
rs879254827
|
|
|
NM_000527.5(LDLR):c.1200C>T (p.Tyr400=)
|
|
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
|
NM_000527.5(LDLR):c.1202T>A (p.Leu401His)
|
rs121908038
|
|
|
NM_000527.5(LDLR):c.1203C>A (p.Leu401=)
|
rs1247641764
|
|
|
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del)
|
rs879254830
|
|
|
NM_000527.5(LDLR):c.1204_1205del (p.Phe402fs)
|
rs1060499923
|
|
|
NM_000527.5(LDLR):c.1205T>C (p.Phe402Ser)
|
rs1057519668
|
|
|
NM_000527.5(LDLR):c.1205dup (p.Phe403fs)
|
rs879254828
|
|
|
NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs)
|
rs879254829
|
|
|
NM_000527.5(LDLR):c.1206del (p.Phe403fs)
|
|
|
|
NM_000527.5(LDLR):c.1207T>C (p.Phe403Leu)
|
rs879254831
|
|
|
NM_000527.5(LDLR):c.1208del (p.Phe403fs)
|
rs879254832
|
|
|
NM_000527.5(LDLR):c.1209C>A (p.Phe403Leu)
|
rs777903106
|
|
|
NM_000527.5(LDLR):c.1209del (p.Phe403fs)
|
rs879254833
|
|
|
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.1214A>C (p.Asn405Thr)
|
rs879254836
|
|
|
NM_000527.5(LDLR):c.1214A>G (p.Asn405Ser)
|
|
|
|
NM_000527.5(LDLR):c.1214A>T (p.Asn405Ile)
|
rs879254836
|
|
|
NM_000527.5(LDLR):c.1214_1217dup (p.His407fs)
|
rs2077407494
|
|
|
NM_000527.5(LDLR):c.1215C>A (p.Asn405Lys)
|
|
|
|
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys)
|
rs879254837
|
|
|
NM_000527.5(LDLR):c.1215C>T (p.Asn405=)
|
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.121T>A (p.Ser41Thr)
|
rs2077193859
|
|
|
NM_000527.5(LDLR):c.1221C>A (p.His407Gln)
|
|
|
|
NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln)
|
rs137943601
|
|
|
NM_000527.5(LDLR):c.1222G>T (p.Glu408Ter)
|
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.1224G>A (p.Glu408=)
|
|
|
|
NM_000527.5(LDLR):c.1224G>C (p.Glu408Asp)
|
|
|
|
NM_000527.5(LDLR):c.1227C>T (p.Val409=)
|
rs2147247089
|
|
|
NM_000527.5(LDLR):c.1228A>G (p.Arg410Gly)
|
rs2077408020
|
|
|
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.1230G>C (p.Arg410Ser)
|
rs879254839
|
|
|
NM_000527.5(LDLR):c.1230G>T (p.Arg410Ser)
|
rs879254839
|
|
|
NM_000527.5(LDLR):c.1231A>G (p.Lys411Glu)
|
rs879254840
|
|
|
NM_000527.5(LDLR):c.1233del (p.Lys411_Met412insTer)
|
rs879254841
|
|
|
NM_000527.5(LDLR):c.1234A>C (p.Met412Leu)
|
rs1225797407
|
|
|
NM_000527.5(LDLR):c.1234A>G (p.Met412Val)
|
|
|
|
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr)
|
rs879254842
|
|
|
NM_000527.5(LDLR):c.1236G>A (p.Met412Ile)
|
rs879254843
|
|
|
NM_000527.5(LDLR):c.1238C>G (p.Thr413Arg)
|
|
|
|
NM_000527.5(LDLR):c.1239G>C (p.Thr413=)
|
|
|
|
NM_000527.5(LDLR):c.123C>T (p.Ser41=)
|
rs1555802284
|
|
|
NM_000527.5(LDLR):c.1241T>A (p.Leu414Gln)
|
|
|
|
NM_000527.5(LDLR):c.1242G>C (p.Leu414=)
|
|
|
|
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.1244A>T (p.Asp415Val)
|
rs879254845
|
|
|
NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs)
|
|
|
|
NM_000527.5(LDLR):c.1245C>A (p.Asp415Glu)
|
|
|
|
NM_000527.5(LDLR):c.1245_1249dup (p.Ser417fs)
|
rs879254846
|
|
|
NM_000527.5(LDLR):c.1246C>A (p.Arg416=)
|
|
|
|
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.1252G>T (p.Glu418Ter)
|
rs869320651
|
|
|
NM_000527.5(LDLR):c.1253A>G (p.Glu418Gly)
|
rs2147247251
|
|
|
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.1255dup (p.Tyr419fs)
|
rs2077408827
|
|
|
NM_000527.5(LDLR):c.1256A>G (p.Tyr419Cys)
|
rs1057519669
|
|
|
NM_000527.5(LDLR):c.1257C>A (p.Tyr419Ter)
|
rs774439908
|
|
|
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter)
|
rs774439908
|
|
|
NM_000527.5(LDLR):c.1257C>T (p.Tyr419=)
|
rs774439908
|
|
|
NM_000527.5(LDLR):c.125A>G (p.Tyr42Cys)
|
rs2077193966
|
|
|
NM_000527.5(LDLR):c.1261A>G (p.Ser421Gly)
|
rs1600726484
|
|
|
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg)
|
rs752942769
|
|
|
NM_000527.5(LDLR):c.1263C>T (p.Ser421=)
|
rs752942769
|
|
|
NM_000527.5(LDLR):c.1264C>T (p.Leu422Phe)
|
rs2077409172
|
|
|
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.1269C>G (p.Ile423Met)
|
|
|
|
NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter)
|
|
|
|
NM_000527.5(LDLR):c.126C>G (p.Tyr42Ter)
|
rs751317621
|
|
|
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.1272C>T (p.Pro424=)
|
|
|
|
NM_000527.5(LDLR):c.1272del (p.Asn425fs)
|
rs1060500987
|
|
|
NM_000527.5(LDLR):c.1272dup (p.Asn425fs)
|
|
|
|
NM_000527.5(LDLR):c.1273A>G (p.Asn425Asp)
|
rs1327586053
|
|
|
NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile)
|
rs879254850
|
|
|
NM_000527.5(LDLR):c.1274del (p.Asn425fs)
|
|
|
|
NM_000527.5(LDLR):c.1275C>T (p.Asn425=)
|
|
|
|
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.1281G>A (p.Arg427=)
|
rs1568603617
|
|
|
NM_000527.5(LDLR):c.1283A>C (p.Asn428Thr)
|
|
|
|
NM_000527.5(LDLR):c.1283A>G (p.Asn428Ser)
|
rs879254852
|
|
|
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>C (p.Val429Leu)
|
rs28942078
|
|
|
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu)
|
rs28942078
|
|
|
NM_000527.5(LDLR):c.1285_1289dup (p.Ala431fs)
|
|
|
|
NM_000527.5(LDLR):c.1287G>A (p.Val429=)
|
|
|
|
NM_000527.5(LDLR):c.1287G>C (p.Val429=)
|
|
|
|
NM_000527.5(LDLR):c.1287G>T (p.Val429=)
|
rs2077410111
|
|
|
NM_000527.5(LDLR):c.1288G>C (p.Val430Leu)
|
rs879254853
|
|
|
NM_000527.5(LDLR):c.1290C>T (p.Val430=)
|
rs1568603661
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
|
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)
|
rs28942079
|
|
|
NM_000527.5(LDLR):c.1291_1331del (p.Val430_Ala431insTer)
|
rs879254854
|
|
|
NM_000527.5(LDLR):c.1292C>G (p.Ala431Gly)
|
|
|
|
NM_000527.5(LDLR):c.1294C>A (p.Leu432Met)
|
|
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
|
NM_000527.5(LDLR):c.1294C>T (p.Leu432=)
|
rs730882100
|
|
|
NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro)
|
rs879254855
|
|
|
NM_000527.5(LDLR):c.1296_1298del (p.Asp433del)
|
rs879254856
|
|
|
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.1298A>C (p.Asp433Ala)
|
|
|
|
NM_000527.5(LDLR):c.129G>A (p.Lys43=)
|
rs1308223575
|
|
|
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter)
|
rs756039188
|
|
|
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.1303G>A (p.Glu435Lys)
|
|
|
|
NM_000527.5(LDLR):c.1303del (p.Glu435fs)
|
rs879254857
|
|
|
NM_000527.5(LDLR):c.1305G>A (p.Glu435=)
|
rs2147247595
|
|
|
NM_000527.5(LDLR):c.1306G>A (p.Val436Met)
|
rs2147247608
|
|
|
NM_000527.5(LDLR):c.1306del (p.Val436fs)
|
rs879254858
|
|
|
NM_000527.5(LDLR):c.1307T>A (p.Val436Glu)
|
rs779732323
|
|
|
NM_000527.5(LDLR):c.1307T>G (p.Val436Gly)
|
|
|
|
NM_000527.5(LDLR):c.1309G>A (p.Ala437Thr)
|
rs1223171296
|
|
|
NM_000527.5(LDLR):c.1309G>C (p.Ala437Pro)
|
|
|
|
NM_000527.5(LDLR):c.1309_1310insTCGCTCTGGACACGTAGGTGG (p.Ala437delinsValAlaLeuAspThrTer)
|
rs2077410686
|
|
|
NM_000527.5(LDLR):c.1309dup (p.Ala437fs)
|
rs879254859
|
|
|
NM_000527.5(LDLR):c.1314C>T (p.Ser438=)
|
rs2077411000
|
|
|
NM_000527.5(LDLR):c.1315A>G (p.Asn439Asp)
|
|
|
|
NM_000527.5(LDLR):c.1315A>T (p.Asn439Tyr)
|
rs1057519670
|
|
|
NM_000527.5(LDLR):c.1315_1316del (p.Ser438_Asn439insTer)
|
|
|
|
NM_000527.5(LDLR):c.1316A>G (p.Asn439Ser)
|
|
|
|
NM_000527.5(LDLR):c.1317T>C (p.Asn439=)
|
rs879254860
|
|
|
NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys)
|
rs879254860
|
|
|
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly)
|
rs879254861
|
|
|
NM_000527.5(LDLR):c.1319G>T (p.Arg440Ile)
|
|
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
|
NM_000527.5(LDLR):c.131G>T (p.Trp44Leu)
|
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>A (p.Ile441=)
|
rs5933
|
|
|
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met)
|
rs5933
|
|
|
NM_000527.5(LDLR):c.1324T>A (p.Tyr442Asn)
|
rs879254863
|
|
|
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.1326C>G (p.Tyr442Ter)
|
rs879254865
|
|
|
NM_000527.5(LDLR):c.1326C>T (p.Tyr442=)
|
rs879254865
|
|
|
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg)
|
rs773566855
|
|
|
NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter)
|
rs879254866
|
|
|
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser)
|
rs879254866
|
|
|
NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter)
|
rs879254867
|
|
|
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys)
|
rs879254867
|
|
|
NM_000527.5(LDLR):c.132G>A (p.Trp44Ter)
|
rs1555802287
|
|
|
NM_000527.5(LDLR):c.132G>C (p.Trp44Cys)
|
rs1555802287
|
|
|
NM_000527.5(LDLR):c.132_133dup (p.Val45fs)
|
rs879254414
|
|
|
NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro)
|
rs875989919
|
|
|
NM_000527.5(LDLR):c.1330del (p.Ser444fs)
|
rs1057519671
|
|
|
NM_000527.5(LDLR):c.1331C>T (p.Ser444Phe)
|
rs2147247764
|
|
|
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.1336del (p.Leu446fs)
|
rs879254868
|
|
|
NM_000527.5(LDLR):c.1337dup (p.Ser447fs)
|
|
|
|
NM_000527.5(LDLR):c.1338G>C (p.Leu446=)
|
|
|
|
NM_000527.5(LDLR):c.1339T>C (p.Ser447Pro)
|
rs879254869
|
|
|
NM_000527.5(LDLR):c.133G>A (p.Val45Ile)
|
|
|
|
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys)
|
rs879254870
|
|
|
NM_000527.5(LDLR):c.1340C>T (p.Ser447Phe)
|
|
|
|
NM_000527.5(LDLR):c.1342C>A (p.Gln448Lys)
|
rs879254871
|
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
|
NM_000527.5(LDLR):c.1343del (p.Gln448fs)
|
rs879254872
|
|
|
NM_000527.5(LDLR):c.1344G>A (p.Gln448=)
|
|
|
|
NM_000527.5(LDLR):c.1346G>T (p.Arg449Ile)
|
|
|
|
NM_000527.5(LDLR):c.134T>G (p.Val45Gly)
|
rs1600700584
|
|
|
NM_000527.5(LDLR):c.1351A>G (p.Ile451Val)
|
|
|
|
NM_000527.5(LDLR):c.1351A>T (p.Ile451Phe)
|
rs879254873
|
|
|
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
|
|
|
|
NM_000527.5(LDLR):c.1356C>A (p.Cys452Ter)
|
rs137853961
|
|
|
NM_000527.5(LDLR):c.1357A>G (p.Ser453Gly)
|
|
|
|
NM_000527.5(LDLR):c.1357del (p.Ser453fs)
|
rs2077412367
|
|
|
NM_000527.5(LDLR):c.1358+10G>A
|
|
|
|
NM_000527.5(LDLR):c.1358+10G>T
|
rs373060981
|
|
|
NM_000527.5(LDLR):c.1358+14C>T
|
|
|
|
NM_000527.5(LDLR):c.1358+19T>G
|
|
|
|
NM_000527.5(LDLR):c.1358+1G>A
|
rs775924858
|
|
|
NM_000527.5(LDLR):c.1358+1G>T
|
rs775924858
|
|
|
NM_000527.5(LDLR):c.1358+20G>A
|
|
|
|
NM_000527.5(LDLR):c.1358+20dup
|
|
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
|
NM_000527.5(LDLR):c.1358+2T>C
|
rs193922567
|
|
|
NM_000527.5(LDLR):c.1358+3_1358+8del
|
rs879254875
|
|
|
NM_000527.5(LDLR):c.1358+5G>A
|
|
|
|
NM_000527.5(LDLR):c.1358+5G>T
|
rs1060499924
|
|
|
NM_000527.5(LDLR):c.1358+7G>C
|
|
|
|
NM_000527.5(LDLR):c.1361C>A (p.Thr454Asn)
|
rs879254879
|
|
|
NM_000527.5(LDLR):c.1361C>G (p.Thr454Ser)
|
|
|
|
NM_000527.5(LDLR):c.1361_1364del (p.Thr454fs)
|
|
|
|
NM_000527.5(LDLR):c.1362C>T (p.Thr454=)
|
|
|
|
NM_000527.5(LDLR):c.1363C>T (p.Gln455Ter)
|
rs879254880
|
|
|
NM_000527.5(LDLR):c.1363del (p.Gln455fs)
|
rs879254881
|
|
|
NM_000527.5(LDLR):c.1365del (p.Gln455fs)
|
rs879254882
|
|
|
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.1367_1376del (p.Leu456fs)
|
rs879254883
|
|
|
NM_000527.5(LDLR):c.1368T>A (p.Leu456=)
|
rs2077414640
|
|
|
NM_000527.5(LDLR):c.1369G>C (p.Asp457His)
|
|
|
|
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly)
|
rs879254415
|
|
|
NM_000527.5(LDLR):c.1371C>T (p.Asp457=)
|
rs1600727269
|
|
|
NM_000527.5(LDLR):c.1371_1374dup (p.Ala459fs)
|
rs875989920
|
|
|
NM_000527.5(LDLR):c.1374_1375del (p.Arg458fs)
|
rs879254884
|
|
|
NM_000527.5(LDLR):c.1374_1382del (p.Arg458_Gly461delinsSer)
|
rs1600727285
|
|
|
NM_000527.5(LDLR):c.1376C>G (p.Ala459Gly)
|
rs377388822
|
|
|
NM_000527.5(LDLR):c.1377C>G (p.Ala459=)
|
rs2077414954
|
|
|
NM_000527.5(LDLR):c.1377C>T (p.Ala459=)
|
|
|
|
NM_000527.5(LDLR):c.1377_1380del (p.His460fs)
|
rs879254885
|
|
|
NM_000527.5(LDLR):c.1379_1394delinsCAGCT (p.His460fs)
|
rs1555805337
|
|
|
NM_000527.5(LDLR):c.1379_1396delinsCAGCTTA (p.His460_Asp466delinsProAlaTer)
|
rs879254886
|
|
|
NM_000527.5(LDLR):c.1379_1402delinsCAGCTTGACCCGC (p.His460_Val468delinsProAlaTer)
|
rs879254887
|
|
|
NM_000527.5(LDLR):c.137G>A (p.Cys46Tyr)
|
rs121908041
|
|
|
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.1382del (p.Gly461fs)
|
rs1600727337
|
|
|
NM_000527.5(LDLR):c.138C>A (p.Cys46Ter)
|
rs754676104
|
|
|
NM_000527.5(LDLR):c.1392C>T (p.Ser464=)
|
rs762817882
|
|
|
NM_000527.5(LDLR):c.1392del (p.Tyr465fs)
|
rs879254888
|
|
|
NM_000527.5(LDLR):c.1393del (p.Tyr465fs)
|
rs1555805348
|
|
|
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys)
|
rs879254889
|
|
|
NM_000527.5(LDLR):c.1398C>T (p.Asp466=)
|
rs897952686
|
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
|
|
|
NM_000527.5(LDLR):c.139G>C (p.Asp47His)
|
rs778284147
|
|
|
NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr)
|
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.1402_1407del (p.Val468_Ile469del)
|
|
|
|
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp)
|
rs879254890
|
|
|
NM_000527.5(LDLR):c.1403T>C (p.Val468Ala)
|
|
|
|
NM_000527.5(LDLR):c.1406T>A (p.Ile469Asn)
|
rs2077415798
|
|
|
NM_000527.5(LDLR):c.1407C>T (p.Ile469=)
|
|
|
|
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly)
|
rs1057516128
|
|
|
NM_000527.5(LDLR):c.1408A>T (p.Ser470Cys)
|
rs1057516128
|
|
|
NM_000527.5(LDLR):c.140_153del (p.Asp47fs)
|
rs1555802291
|
|
|
NM_000527.5(LDLR):c.1411A>G (p.Arg471Gly)
|
rs879254891
|
|
|
NM_000527.5(LDLR):c.1411del (p.Arg471fs)
|
rs2147248471
|
|
|
NM_000527.5(LDLR):c.1412G>A (p.Arg471Lys)
|
rs1131692207
|
|
|
NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn)
|
rs2077416170
|
|
|
NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs)
|
rs1555805360
|
|
|
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.1417_1431del (p.Ile473_Asp477del)
|
rs879254893
|
|
|
NM_000527.5(LDLR):c.1418T>A (p.Ile473Asn)
|
rs879254895
|
|
|
NM_000527.5(LDLR):c.1418T>G (p.Ile473Ser)
|
rs879254895
|
|
|
NM_000527.5(LDLR):c.1418_1432del (p.Ile473_Gly478delinsArg)
|
|
|
|
NM_000527.5(LDLR):c.141T>C (p.Asp47=)
|
|
|
|
NM_000527.5(LDLR):c.1420C>T (p.Gln474Ter)
|
rs201967266
|
|
|
NM_000527.5(LDLR):c.1422G>T (p.Gln474His)
|
rs2147248583
|
|
|
NM_000527.5(LDLR):c.1423_1424delinsA (p.Ala475fs)
|
rs879254896
|
|
|
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val)
|
rs879254897
|
|
|
NM_000527.5(LDLR):c.1425C>G (p.Ala475=)
|
rs2147248612
|
|
|
NM_000527.5(LDLR):c.1426C>T (p.Pro476Ser)
|
rs879254898
|
|
|
NM_000527.5(LDLR):c.1427C>G (p.Pro476Arg)
|
|
|
|
NM_000527.5(LDLR):c.1427C>T (p.Pro476Leu)
|
rs1131692208
|
|
|
NM_000527.5(LDLR):c.1428C>G (p.Pro476=)
|
rs543392107
|
|
|
NM_000527.5(LDLR):c.1428dup (p.Asp477fs)
|
rs876657697
|
|
|
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)
|
rs780316072
|
|
|
NM_000527.5(LDLR):c.1431C>G (p.Asp477Glu)
|
|
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
|
NM_000527.5(LDLR):c.1432G>T (p.Gly478Trp)
|
rs144614838
|
|
|
NM_000527.5(LDLR):c.1433G>A (p.Gly478Glu)
|
rs1555805380
|
|
|
NM_000527.5(LDLR):c.1433G>T (p.Gly478Val)
|
|
|
|
NM_000527.5(LDLR):c.1434G>A (p.Gly478=)
|
rs886039832
|
|
|
NM_000527.5(LDLR):c.1434del (p.Leu479fs)
|
rs879254899
|
|
|
NM_000527.5(LDLR):c.1435C>T (p.Leu479=)
|
|
|
|
NM_000527.5(LDLR):c.1436T>A (p.Leu479Gln)
|
rs879254900
|
|
|
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro)
|
rs879254900
|
|
|
NM_000527.5(LDLR):c.1437G>A (p.Leu479=)
|
|
|
|
NM_000527.5(LDLR):c.1438G>A (p.Ala480Thr)
|
rs879254901
|
|
|
NM_000527.5(LDLR):c.1438G>C (p.Ala480Pro)
|
rs879254901
|
|
|
NM_000527.5(LDLR):c.1438G>T (p.Ala480Ser)
|
|
|
|
NM_000527.5(LDLR):c.1439C>T (p.Ala480Val)
|
rs1064794259
|
|
|
NM_000527.5(LDLR):c.1439_1449del (p.Ala480fs)
|
rs879254902
|
|
|
NM_000527.5(LDLR):c.1439del (p.Ala480fs)
|
|
|
|
NM_000527.5(LDLR):c.143G>A (p.Gly48Asp)
|
rs730882077
|
|
|
NM_000527.5(LDLR):c.1440T>G (p.Ala480=)
|
rs2147248763
|
|
|
NM_000527.5(LDLR):c.1441G>A (p.Val481Met)
|
rs879254903
|
|
|
NM_000527.5(LDLR):c.1444G>C (p.Asp482His)
|
rs139624145
|
|
|
NM_000527.5(LDLR):c.1444G>T (p.Asp482Tyr)
|
rs139624145
|
|
|
NM_000527.5(LDLR):c.1445A>G (p.Asp482Gly)
|
rs879254904
|
|
|
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg)
|
rs879254905
|
|
|
NM_000527.5(LDLR):c.1447del (p.Trp483fs)
|
rs2077417709
|
|
|
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)
|
rs875989921
|
|
|
NM_000527.5(LDLR):c.1448G>T (p.Trp483Leu)
|
rs875989921
|
|
|
NM_000527.5(LDLR):c.1449G>A (p.Trp483Ter)
|
rs879254907
|
|
|
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.1449_1450delinsTT (p.Trp483_Ile484delinsCysPhe)
|
|
|
|
NM_000527.5(LDLR):c.144C>A (p.Gly48=)
|
rs1250260327
|
|
|
NM_000527.5(LDLR):c.1450A>G (p.Ile484Val)
|
rs2147248832
|
|
|
NM_000527.5(LDLR):c.1454A>G (p.His485Arg)
|
rs879254906
|
|
|
NM_000527.5(LDLR):c.1455C>G (p.His485Gln)
|
rs879254908
|
|
|
NM_000527.5(LDLR):c.1455C>T (p.His485=)
|
rs879254908
|
|
|
NM_000527.5(LDLR):c.1456A>G (p.Ser486Gly)
|
rs879254909
|
|
|
NM_000527.5(LDLR):c.1456del (p.Ser486fs)
|
rs1131692209
|
|
|
NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn)
|
rs879254910
|
|
|
NM_000527.5(LDLR):c.1459_1472dup (p.Asp492fs)
|
rs1600727715
|
|
|
NM_000527.5(LDLR):c.145A>C (p.Ser49Arg)
|
rs2077194647
|
|
|
NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser)
|
rs879254912
|
|
|
NM_000527.5(LDLR):c.1460_1462del (p.Asn487del)
|
rs879254911
|
|
|
NM_000527.5(LDLR):c.1461C>T (p.Asn487=)
|
rs2147248901
|
|
|
NM_000527.5(LDLR):c.1461dup (p.Ile488fs)
|
rs1555805409
|
|
|
NM_000527.5(LDLR):c.1462_1463insC (p.Ile488fs)
|
rs1555805413
|
|
|
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn)
|
rs879254913
|
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
|
|
|
NM_000527.5(LDLR):c.1463T>G (p.Ile488Ser)
|
rs879254913
|
|
|
NM_000527.5(LDLR):c.1464_1465del (p.Tyr489fs)
|
|
|
|
NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys)
|
rs879254914
|
|
|
NM_000527.5(LDLR):c.1467C>A (p.Tyr489Ter)
|
rs370777955
|
|
|
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter)
|
rs370777955
|
|
|
NM_000527.5(LDLR):c.1467C>T (p.Tyr489=)
|
rs370777955
|
|
|
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)
|
rs730880130
|
|
|
NM_000527.5(LDLR):c.1468T>G (p.Trp490Gly)
|
rs730880130
|
|
|
NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter)
|
rs875989922
|
|
|
NM_000527.5(LDLR):c.1469G>C (p.Trp490Ser)
|
|
|
|
NM_000527.5(LDLR):c.1469G>T (p.Trp490Leu)
|
rs875989922
|
|
|
NM_000527.5(LDLR):c.1470G>A (p.Trp490Ter)
|
rs879254915
|
|
|
NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys)
|
rs879254915
|
|
|
NM_000527.5(LDLR):c.1470G>T (p.Trp490Cys)
|
|
|
|
NM_000527.5(LDLR):c.1471A>G (p.Thr491Ala)
|
|
|
|
NM_000527.5(LDLR):c.1471dup (p.Thr491fs)
|
rs879254916
|
|
|
NM_000527.5(LDLR):c.1472C>A (p.Thr491Asn)
|
rs879254917
|
|
|
NM_000527.5(LDLR):c.1473C>G (p.Thr491=)
|
rs558238642
|
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
|
NM_000527.5(LDLR):c.1474G>T (p.Asp492Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1474del (p.Asp492fs)
|
|
|
|
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)
|
rs879254918
|
|
|
NM_000527.5(LDLR):c.1477_1479delinsAGAGACA (p.Ser493fs)
|
rs879254919
|
|
|
NM_000527.5(LDLR):c.1478C>G (p.Ser493Cys)
|
|
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
|
NM_000527.5(LDLR):c.1478del (p.Ser493fs)
|
rs1057519672
|
|
|
NM_000527.5(LDLR):c.147C>A (p.Ser49Arg)
|
rs138078086
|
|
|
NM_000527.5(LDLR):c.1483C>G (p.Leu495Val)
|
|
|
|
NM_000527.5(LDLR):c.1483C>T (p.Leu495=)
|
rs2077418963
|
|
|
NM_000527.5(LDLR):c.1484T>G (p.Leu495Arg)
|
rs1370312225
|
|
|
NM_000527.5(LDLR):c.1485G>A (p.Leu495=)
|
|
|
|
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs)
|
rs869025454
|
|
|
NM_000527.5(LDLR):c.1487G>T (p.Gly496Val)
|
rs751603969
|
|
|
NM_000527.5(LDLR):c.1489A>C (p.Thr497Pro)
|
|
|
|
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.148del (p.Ala50fs)
|
rs879254417
|
|
|
NM_000527.5(LDLR):c.1490del (p.Thr497fs)
|
rs2077419273
|
|
|
NM_000527.5(LDLR):c.1492G>C (p.Val498Leu)
|
|
|
|
NM_000527.5(LDLR):c.1492G>T (p.Val498Phe)
|
rs759139712
|
|
|
NM_000527.5(LDLR):c.1492_1493del (p.Val498fs)
|
rs2077419354
|
|
|
NM_000527.5(LDLR):c.1494C>G (p.Val498=)
|
rs921522373
|
|
|
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.1497T>C (p.Ser499=)
|
|
|
|
NM_000527.5(LDLR):c.1498_1499del (p.Val500fs)
|
rs879254923
|
|
|
NM_000527.5(LDLR):c.1499T>C (p.Val500Ala)
|
rs886039833
|
|
|
NM_000527.5(LDLR):c.149C>G (p.Ala50Gly)
|
|
|
|
NM_000527.5(LDLR):c.1501G>A (p.Ala501Thr)
|
rs2077419716
|
|
|
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu)
|
rs755667663
|
|
|
NM_000527.5(LDLR):c.1502C>G (p.Ala501Gly)
|
rs755667663
|
|
|
NM_000527.5(LDLR):c.1502dup (p.Asp502fs)
|
rs879254924
|
|
|
NM_000527.5(LDLR):c.1503G>C (p.Ala501=)
|
rs368889457
|
|
|
NM_000527.5(LDLR):c.1503_1504dup (p.Asp502fs)
|
rs2147249259
|
|
|
NM_000527.5(LDLR):c.1504G>T (p.Asp502Tyr)
|
rs879254925
|
|
|
NM_000527.5(LDLR):c.1506T>C (p.Asp502=)
|
rs1194124578
|
|
|
NM_000527.5(LDLR):c.150T>C (p.Ala50=)
|
rs1456739064
|
|
|
NM_000527.5(LDLR):c.1510A>T (p.Lys504Ter)
|
rs730882103
|
|
|
NM_000527.5(LDLR):c.1514G>A (p.Gly505Asp)
|
rs879254926
|
|
|
NM_000527.5(LDLR):c.1516G>C (p.Val506Leu)
|
rs373848925
|
|
|
NM_000527.5(LDLR):c.1516_1562del (p.Val506fs)
|
rs879254927
|
|
|
NM_000527.5(LDLR):c.1516dup (p.Val506fs)
|
rs2147249327
|
|
|
NM_000527.5(LDLR):c.1518G>A (p.Val506=)
|
|
|
|
NM_000527.5(LDLR):c.1518_1586+340del
|
|
|
|
NM_000527.5(LDLR):c.1519A>G (p.Lys507Glu)
|
rs879254928
|
|
|
NM_000527.5(LDLR):c.1520A>C (p.Lys507Thr)
|
rs879254929
|
|
|
NM_000527.5(LDLR):c.1521G>C (p.Lys507Asn)
|
rs1555805490
|
|
|
NM_000527.5(LDLR):c.1522delinsCTGAAT (p.Arg508fs)
|
rs879254930
|
|
|
NM_000527.5(LDLR):c.1523G>A (p.Arg508Lys)
|
|
|
|
NM_000527.5(LDLR):c.1524G>A (p.Arg508=)
|
|
|
|
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu)
|
rs879254931
|
|
|
NM_000527.5(LDLR):c.1527A>G (p.Lys509=)
|
rs1224556829
|
|
|
NM_000527.5(LDLR):c.1529del (p.Thr510fs)
|
rs1057519673
|
|
|
NM_000527.5(LDLR):c.1530del (p.Leu511fs)
|
rs1131692210
|
|
|
NM_000527.5(LDLR):c.1531_1532dup (p.Leu511fs)
|
rs2147249432
|
|
|
NM_000527.5(LDLR):c.1532T>C (p.Leu511Ser)
|
rs879254932
|
|
|
NM_000527.5(LDLR):c.1532T>G (p.Leu511Ter)
|
rs879254932
|
|
|
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.1533dup (p.Phe512fs)
|
rs879254933
|
|
|
NM_000527.5(LDLR):c.153G>A (p.Glu51=)
|
|
|
|
NM_000527.5(LDLR):c.1540G>A (p.Glu514Lys)
|
rs1555805507
|
|
|
NM_000527.5(LDLR):c.1540G>T (p.Glu514Ter)
|
rs1555805507
|
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
|
|
|
NM_000527.5(LDLR):c.1548C>T (p.Gly516=)
|
|
|
|
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro)
|
rs879254936
|
|
|
NM_000527.5(LDLR):c.1549_1555del (p.Ser517fs)
|
rs879254935
|
|
|
NM_000527.5(LDLR):c.1550C>T (p.Ser517Phe)
|
rs749126200
|
|
|
NM_000527.5(LDLR):c.1551C>A (p.Ser517=)
|
|
|
|
NM_000527.5(LDLR):c.1551C>T (p.Ser517=)
|
rs2077421219
|
|
|
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.1554G>A (p.Lys518=)
|
|
|
|
NM_000527.5(LDLR):c.1554G>C (p.Lys518Asn)
|
|
|
|
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr)
|
rs875989923
|
|
|
NM_000527.5(LDLR):c.1555C>T (p.Pro519Ser)
|
rs875989923
|
|
|
NM_000527.5(LDLR):c.1558A>G (p.Arg520Gly)
|
rs879254939
|
|
|
NM_000527.5(LDLR):c.1559G>T (p.Arg520Met)
|
|
|
|
NM_000527.5(LDLR):c.155G>A (p.Cys52Tyr)
|
rs879254418
|
|
|
NM_000527.5(LDLR):c.1561G>A (p.Ala521Thr)
|
rs879254940
|
|
|
NM_000527.5(LDLR):c.1561G>T (p.Ala521Ser)
|
|
|
|
NM_000527.5(LDLR):c.1562C>T (p.Ala521Val)
|
rs770696696
|
|
|
NM_000527.5(LDLR):c.1564A>G (p.Ile522Val)
|
rs774337050
|
|
|
NM_000527.5(LDLR):c.1565T>G (p.Ile522Ser)
|
|
|
|
NM_000527.5(LDLR):c.1566del (p.Ile522fs)
|
rs1131692211
|
|
|
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.1567_1575del (p.Val523_Asp525del)
|
rs879254941
|
|
|
NM_000527.5(LDLR):c.1568TGG[1] (p.Val524del)
|
|
|
|
NM_000527.5(LDLR):c.1568dup (p.Val524fs)
|
|
|
|
NM_000527.5(LDLR):c.156C>A (p.Cys52Ter)
|
|
|
|
NM_000527.5(LDLR):c.156C>T (p.Cys52=)
|
|
|
|
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
|
|
|
|
NM_000527.5(LDLR):c.1570_1579del (p.Val524fs)
|
rs1555805530
|
|
|
NM_000527.5(LDLR):c.1571T>G (p.Val524Gly)
|
|
|
|
NM_000527.5(LDLR):c.1571_1572del (p.Val524fs)
|
rs1057519674
|
|
|
NM_000527.5(LDLR):c.1571_1586+3dup
|
rs1555805531
|
|
|
NM_000527.5(LDLR):c.1573_1586+5del
|
|
|
|
NM_000527.5(LDLR):c.1574A>C (p.Asp525Ala)
|
rs879254943
|
|
|
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val)
|
rs879254943
|
|
|
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu)
|
rs763884010
|
|
|
NM_000527.5(LDLR):c.1575T>C (p.Asp525=)
|
|
|
|
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.1579G>A (p.Val527Ile)
|
rs758890891
|
|
|
NM_000527.5(LDLR):c.157C>T (p.Gln53Ter)
|
rs879254419
|
|
|
NM_000527.5(LDLR):c.1583A>G (p.His528Arg)
|
rs1489999751
|
|
|
NM_000527.5(LDLR):c.1584T>C (p.His528=)
|
rs2147249727
|
|
|
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
|
|
|
|
NM_000527.5(LDLR):c.1585G>T (p.Gly529Cys)
|
|
|
|
NM_000527.5(LDLR):c.1586+12C>T
|
|
|
|
NM_000527.5(LDLR):c.1586+16G>A
|
|
|
|
NM_000527.5(LDLR):c.1586+17C>T
|
|
|
|
NM_000527.5(LDLR):c.1586+19G>A
|
|
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
|
NM_000527.5(LDLR):c.1586+1G>C
|
rs755389753
|
|
|
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+4C>A
|
|
|
|
NM_000527.5(LDLR):c.1586+4C>G
|
|
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
|
NM_000527.5(LDLR):c.1586+9C>G
|
rs1600728459
|
|
|
NM_000527.5(LDLR):c.1587-17C>A
|
|
|
|
NM_000527.5(LDLR):c.1587-1G>A
|
rs879254948
|
|
|
NM_000527.5(LDLR):c.1587-20A>G
|
|
|
|
NM_000527.5(LDLR):c.1587-2A>G
|
rs879254947
|
|
|
NM_000527.5(LDLR):c.1587-2A>T
|
rs879254947
|
|
|
NM_000527.5(LDLR):c.1587-3C>A
|
|
|
|
NM_000527.5(LDLR):c.1587-51G>T
|
rs879254946
|
|
|
NM_000527.5(LDLR):c.1587-5_1618del
|
rs1555805930
|
|
|
NM_000527.5(LDLR):c.1587-7C>T
|
|
|
|
NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs)
|
rs879254949
|
|
|
NM_000527.5(LDLR):c.1590C>A (p.Phe530Leu)
|
|
|
|
NM_000527.5(LDLR):c.1592T>C (p.Met531Thr)
|
|
|
|
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg)
|
rs779913921
|
|
|
NM_000527.5(LDLR):c.1592_1627del (p.Met531_Ile542del)
|
rs879254950
|
|
|
NM_000527.5(LDLR):c.1593del (p.Met531fs)
|
|
|
|
NM_000527.5(LDLR):c.1594T>A (p.Tyr532Asn)
|
rs1600732566
|
|
|
NM_000527.5(LDLR):c.1595A>G (p.Tyr532Cys)
|
rs1060499925
|
|
|
NM_000527.5(LDLR):c.1595_1596dup (p.Trp533fs)
|
rs1568606711
|
|
|
NM_000527.5(LDLR):c.1596C>G (p.Tyr532Ter)
|
rs1555805947
|
|
|
NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg)
|
rs879254951
|
|
|
NM_000527.5(LDLR):c.1597T>G (p.Trp533Gly)
|
rs879254951
|
|
|
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter)
|
rs746939188
|
|
|
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter)
|
rs879254952
|
|
|
NM_000527.5(LDLR):c.1599G>T (p.Trp533Cys)
|
|
|
|
NM_000527.5(LDLR):c.15C>G (p.Gly5=)
|
|
|
|
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>A (p.Asp535Asn)
|
rs879254955
|
|
|
NM_000527.5(LDLR):c.1603G>C (p.Asp535His)
|
|
|
|
NM_000527.5(LDLR):c.1603G>T (p.Asp535Tyr)
|
rs879254955
|
|
|
NM_000527.5(LDLR):c.1606T>G (p.Trp536Gly)
|
rs879254956
|
|
|
NM_000527.5(LDLR):c.1607G>A (p.Trp536Ter)
|
rs879254957
|
|
|
NM_000527.5(LDLR):c.1609G>C (p.Gly537Arg)
|
|
|
|
NM_000527.5(LDLR):c.1609G>T (p.Gly537Ter)
|
rs879254958
|
|
|
NM_000527.5(LDLR):c.1610del (p.Gly537fs)
|
rs879254959
|
|
|
NM_000527.5(LDLR):c.1612A>G (p.Thr538Ala)
|
rs879254960
|
|
|
NM_000527.5(LDLR):c.1612A>T (p.Thr538Ser)
|
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.1618G>A (p.Ala540Thr)
|
|
|
|
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser)
|
rs769370816
|
|
|
NM_000527.5(LDLR):c.1618_1620del (p.Ala540del)
|
rs879254961
|
|
|
NM_000527.5(LDLR):c.161A>C (p.Asp54Ala)
|
rs2147210651
|
|
|
NM_000527.5(LDLR):c.161A>T (p.Asp54Val)
|
|
|
|
NM_000527.5(LDLR):c.1620dup (p.Lys541fs)
|
rs1555805985
|
|
|
NM_000527.5(LDLR):c.1622A>G (p.Lys541Arg)
|
|
|
|
NM_000527.5(LDLR):c.1625T>G (p.Ile542Ser)
|
rs879254962
|
|
|
NM_000527.5(LDLR):c.1626C>A (p.Ile542=)
|
|
|
|
NM_000527.5(LDLR):c.1626C>T (p.Ile542=)
|
|
|
|
NM_000527.5(LDLR):c.1629_1652del (p.Lys543_Asp551delinsAsn)
|
rs879254963
|
|
|
NM_000527.5(LDLR):c.162T>C (p.Asp54=)
|
|
|
|
NM_000527.5(LDLR):c.1631A>C (p.Lys544Thr)
|
rs2077459016
|
|
|
NM_000527.5(LDLR):c.1632_1633del (p.Gly546fs)
|
rs1060499926
|
|
|
NM_000527.5(LDLR):c.1632del (p.Gly546fs)
|
rs879254964
|
|
|
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.1633G>T (p.Gly545Trp)
|
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.1637del (p.Gly546fs)
|
|
|
|
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.1640_1652delinsAGCGTCATCTTCCTGAC (p.Leu547fs)
|
rs879254967
|
|
|
NM_000527.5(LDLR):c.1641G>T (p.Leu547=)
|
|
|
|
NM_000527.5(LDLR):c.1643A>G (p.Asn548Ser)
|
|
|
|
NM_000527.5(LDLR):c.1644T>A (p.Asn548Lys)
|
rs879254970
|
|
|
NM_000527.5(LDLR):c.1644T>G (p.Asn548Lys)
|
rs879254970
|
|
|
NM_000527.5(LDLR):c.1644_1645insC (p.Gly549fs)
|
rs879254969
|
|
|
NM_000527.5(LDLR):c.1645G>C (p.Gly549Arg)
|
|
|
|
NM_000527.5(LDLR):c.1645_1646insC (p.Gly549fs)
|
rs879254971
|
|
|
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.1647dup (p.Val550fs)
|
rs1600732894
|
|
|
NM_000527.5(LDLR):c.1648del (p.Val550fs)
|
rs2077459772
|
|
|
NM_000527.5(LDLR):c.1649T>G (p.Val550Gly)
|
rs2077459810
|
|
|
NM_000527.5(LDLR):c.1651del (p.Asp551fs)
|
rs879254973
|
|
|
NM_000527.5(LDLR):c.1654A>G (p.Ile552Val)
|
rs2077459948
|
|
|
NM_000527.5(LDLR):c.1655del (p.Ile552fs)
|
rs879254972
|
|
|
NM_000527.5(LDLR):c.1656del (p.Tyr553fs)
|
|
|
|
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del)
|
rs1555806019
|
|
|
NM_000527.5(LDLR):c.1659C>T (p.Tyr553=)
|
|
|
|
NM_000527.5(LDLR):c.1659_1660insGAG (p.Tyr553_Ser554insGlu)
|
rs2147255468
|
|
|
NM_000527.5(LDLR):c.1659_1661delinsATACTTTCA (p.Tyr553_Ser554delinsTer)
|
rs879254975
|
|
|
NM_000527.5(LDLR):c.1661C>A (p.Ser554Ter)
|
rs879254976
|
|
|
NM_000527.5(LDLR):c.1661del (p.Ser554fs)
|
rs2147255485
|
|
|
NM_000527.5(LDLR):c.1662_1669dup (p.Thr557delinsSerTrpTer)
|
rs879254977
|
|
|
NM_000527.5(LDLR):c.1663C>A (p.Leu555Met)
|
rs2077460352
|
|
|
NM_000527.5(LDLR):c.1664T>C (p.Leu555Pro)
|
rs879254978
|
|
|
NM_000527.5(LDLR):c.1664T>G (p.Leu555Arg)
|
|
|
|
NM_000527.5(LDLR):c.1665G>A (p.Leu555=)
|
|
|
|
NM_000527.5(LDLR):c.1669A>C (p.Thr557Pro)
|
|
|
|
NM_000527.5(LDLR):c.166T>C (p.Ser56Pro)
|
rs878854026
|
|
|
NM_000527.5(LDLR):c.1670C>T (p.Thr557Ile)
|
|
|
|
NM_000527.5(LDLR):c.1671_1672del (p.Glu558fs)
|
rs879254979
|
|
|
NM_000527.5(LDLR):c.1672G>T (p.Glu558Ter)
|
rs879254980
|
|
|
NM_000527.5(LDLR):c.1673_1676del (p.Glu558fs)
|
|
|
|
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe)
|
rs1131692213
|
|
|
NM_000527.5(LDLR):c.167C>T (p.Ser56Phe)
|
|
|
|
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter)
|
rs879254981
|
|
|
NM_000527.5(LDLR):c.1683G>A (p.Gln561=)
|
rs2077460841
|
|
|
NM_000527.5(LDLR):c.1683del (p.Gln561fs)
|
rs879254982
|
|
|
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup)
|
rs879254983
|
|
|
NM_000527.5(LDLR):c.1685G>A (p.Trp562Ter)
|
rs875989925
|
|
|
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.1686_1693delinsT (p.Trp562fs)
|
rs879254984
|
|
|
NM_000527.5(LDLR):c.1687C>A (p.Pro563Thr)
|
rs879254986
|
|
|
NM_000527.5(LDLR):c.1687C>T (p.Pro563Ser)
|
rs879254986
|
|
|
NM_000527.5(LDLR):c.1688C>A (p.Pro563His)
|
rs879254987
|
|
|
NM_000527.5(LDLR):c.1688_1695del (p.Pro563fs)
|
rs2077460968
|
|
|
NM_000527.5(LDLR):c.1689C>G (p.Pro563=)
|
|
|
|
NM_000527.5(LDLR):c.1689dup (p.Asn564fs)
|
rs879254988
|
|
|
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.1691A>C (p.Asn564Thr)
|
rs758194385
|
|
|
NM_000527.5(LDLR):c.1692T>G (p.Asn564Lys)
|
|
|
|
NM_000527.5(LDLR):c.1693G>A (p.Gly565Ser)
|
|
|
|
NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg)
|
|
|
|
NM_000527.5(LDLR):c.1693G>T (p.Gly565Cys)
|
|
|
|
NM_000527.5(LDLR):c.1693_1696del (p.Gly565fs)
|
rs1555806088
|
|
|
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.1699A>G (p.Thr567Ala)
|
rs1600733170
|
|
|
NM_000527.5(LDLR):c.169G>A (p.Asp57Asn)
|
rs879254420
|
|
|
NM_000527.5(LDLR):c.169G>C (p.Asp57His)
|
|
|
|
NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs)
|
rs774615547
|
|
|
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)
|
rs746959386
|
|
|
NM_000527.5(LDLR):c.1702_1705dup (p.Asp569fs)
|
rs879254990
|
|
|
NM_000527.5(LDLR):c.1703T>C (p.Leu568Pro)
|
rs879254991
|
|
|
NM_000527.5(LDLR):c.1705+112C>G
|
rs879254995
|
|
|
NM_000527.5(LDLR):c.1705+13G>T
|
|
|
|
NM_000527.5(LDLR):c.1705+19C>T
|
|
|
|
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+1del
|
rs879254992
|
|
|
NM_000527.5(LDLR):c.1705+20G>C
|
|
|
|
NM_000527.5(LDLR):c.1705+2T>C
|
rs1555806110
|
|
|
NM_000527.5(LDLR):c.1705+2_1705+3insC
|
rs879254994
|
|
|
NM_000527.5(LDLR):c.1705+9G>T
|
rs370098796
|
|
|
NM_000527.5(LDLR):c.1705G>A (p.Asp569Asn)
|
rs879254993
|
|
|
NM_000527.5(LDLR):c.1705G>T (p.Asp569Tyr)
|
rs879254993
|
|
|
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.1706-1G>C
|
rs879254996
|
|
|
NM_000527.5(LDLR):c.1706-1G>T
|
rs879254996
|
|
|
NM_000527.5(LDLR):c.1706-23T>C
|
rs748089731
|
|
|
NM_000527.5(LDLR):c.1706-2A>C
|
rs878854027
|
|
|
NM_000527.5(LDLR):c.1706-2A>G
|
rs878854027
|
|
|
NM_000527.5(LDLR):c.1706-2A>T
|
rs878854027
|
|
|
NM_000527.5(LDLR):c.1706-5T>A
|
rs1161843170
|
|
|
NM_000527.5(LDLR):c.1706-5T>C
|
|
|
|
NM_000527.5(LDLR):c.1706-69G>T
|
rs7259278
|
|
|
NM_000527.5(LDLR):c.1706-7T>G
|
rs2147257137
|
|
|
NM_000527.5(LDLR):c.1706-8G>A
|
|
|
|
NM_000527.5(LDLR):c.1706-8G>T
|
|
|
|
NM_000527.5(LDLR):c.1706A>T (p.Asp569Val)
|
rs2147257169
|
|
|
NM_000527.5(LDLR):c.1707T>G (p.Asp569Glu)
|
rs2077470774
|
|
|
NM_000527.5(LDLR):c.1708CTC[1] (p.Leu571del)
|
|
|
|
NM_000527.5(LDLR):c.170A>C (p.Asp57Ala)
|
rs1555802310
|
|
|
NM_000527.5(LDLR):c.170A>G (p.Asp57Gly)
|
rs1555802310
|
|
|
NM_000527.5(LDLR):c.1712_1716del (p.Leu571fs)
|
|
|
|
NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn)
|
rs879254997
|
|
|
NM_000527.5(LDLR):c.1715_1719delinsA (p.Ser572fs)
|
rs875989927
|
|
|
NM_000527.5(LDLR):c.1716T>C (p.Ser572=)
|
|
|
|
NM_000527.5(LDLR):c.1716T>G (p.Ser572Arg)
|
|
|
|
NM_000527.5(LDLR):c.1718del (p.Gly573fs)
|
rs879254998
|
|
|
NM_000527.5(LDLR):c.171T>C (p.Asp57=)
|
rs2147210704
|
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
|
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu)
|
rs777188764
|
|
|
NM_000527.5(LDLR):c.1722C>T (p.Arg574=)
|
rs538805346
|
|
|
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>C (p.Tyr576Ser)
|
rs879254999
|
|
|
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys)
|
rs879254999
|
|
|
NM_000527.5(LDLR):c.1728C>G (p.Tyr576Ter)
|
|
|
|
NM_000527.5(LDLR):c.1729T>A (p.Trp577Arg)
|
|
|
|
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>A (p.Glu58Lys)
|
rs879254423
|
|
|
NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)
|
rs879254423
|
|
|
NM_000527.5(LDLR):c.172del (p.Glu58fs)
|
rs879254422
|
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
|
NM_000527.5(LDLR):c.1730_1731delinsAA (p.Trp577Ter)
|
|
|
|
NM_000527.5(LDLR):c.1730_1738del (p.Trp577_Asp579del)
|
rs879255001
|
|
|
NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter)
|
rs875989928
|
|
|
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.1735_1736insTCG (p.Val578dup)
|
rs879255002
|
|
|
NM_000527.5(LDLR):c.1736A>C (p.Asp579Ala)
|
rs879255003
|
|
|
NM_000527.5(LDLR):c.1736A>G (p.Asp579Gly)
|
rs879255003
|
|
|
NM_000527.5(LDLR):c.1736A>T (p.Asp579Val)
|
rs879255003
|
|
|
NM_000527.5(LDLR):c.1736_1737delinsT (p.Asp579fs)
|
rs1131692214
|
|
|
NM_000527.5(LDLR):c.1737C>G (p.Asp579Glu)
|
rs879255004
|
|
|
NM_000527.5(LDLR):c.1737del (p.Ser580fs)
|
rs879255005
|
|
|
NM_000527.5(LDLR):c.1738T>A (p.Ser580Thr)
|
|
|
|
NM_000527.5(LDLR):c.1738T>C (p.Ser580Pro)
|
rs1057519675
|
|
|
NM_000527.5(LDLR):c.1738_1739insTGT (p.Asp579_Ser580insLeu)
|
rs1131692215
|
|
|
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.173A>G (p.Glu58Gly)
|
rs879254424
|
|
|
NM_000527.5(LDLR):c.1741A>T (p.Lys581Ter)
|
rs1060499927
|
|
|
NM_000527.5(LDLR):c.1743A>T (p.Lys581Asn)
|
rs1555806428
|
|
|
NM_000527.5(LDLR):c.1744C>G (p.Leu582Val)
|
rs1131692216
|
|
|
NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe)
|
rs1131692216
|
|
|
NM_000527.5(LDLR):c.1744_1745insA (p.Leu582fs)
|
rs1131692217
|
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
|
NM_000527.5(LDLR):c.1745_1746del (p.Leu582fs)
|
rs879255006
|
|
|
NM_000527.5(LDLR):c.1747C>G (p.His583Asp)
|
rs730882109
|
|
|
NM_000527.5(LDLR):c.1748A>G (p.His583Arg)
|
rs879255007
|
|
|
NM_000527.5(LDLR):c.1749C>A (p.His583Gln)
|
rs879255009
|
|
|
NM_000527.5(LDLR):c.1749C>G (p.His583Gln)
|
rs879255009
|
|
|
NM_000527.5(LDLR):c.1749_1753del (p.Ser584fs)
|
rs879255008
|
|
|
NM_000527.5(LDLR):c.174G>A (p.Glu58=)
|
|
|
|
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro)
|
rs879255010
|
|
|
NM_000527.5(LDLR):c.1752C>T (p.Ser584=)
|
rs2077472678
|
|
|
NM_000527.5(LDLR):c.1752del (p.Ile585fs)
|
rs879255011
|
|
|
NM_000527.5(LDLR):c.1753del (p.Ile585fs)
|
rs1555806448
|
|
|
NM_000527.5(LDLR):c.1754T>A (p.Ile585Asn)
|
rs879255012
|
|
|
NM_000527.5(LDLR):c.1754T>C (p.Ile585Thr)
|
rs879255012
|
|
|
NM_000527.5(LDLR):c.1755C>T (p.Ile585=)
|
rs2147257512
|
|
|
NM_000527.5(LDLR):c.1756T>C (p.Ser586Pro)
|
rs2147257524
|
|
|
NM_000527.5(LDLR):c.1756del (p.Ser586fs)
|
rs879255013
|
|
|
NM_000527.5(LDLR):c.1757C>A (p.Ser586Ter)
|
rs1555806455
|
|
|
NM_000527.5(LDLR):c.1757C>G (p.Ser586Ter)
|
rs1555806455
|
|
|
NM_000527.5(LDLR):c.1758A>G (p.Ser586=)
|
|
|
|
NM_000527.5(LDLR):c.1759del (p.Ser587fs)
|
rs879255014
|
|
|
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.1765G>T (p.Asp589Tyr)
|
rs201971888
|
|
|
NM_000527.5(LDLR):c.1766_1767del (p.Asp589fs)
|
rs879255015
|
|
|
NM_000527.5(LDLR):c.1766del (p.Asp589fs)
|
rs879255016
|
|
|
NM_000527.5(LDLR):c.1768G>A (p.Val590Ile)
|
|
|
|
NM_000527.5(LDLR):c.1769_1774del (p.Val590_Asn591del)
|
rs1555806467
|
|
|
NM_000527.5(LDLR):c.176C>T (p.Ser59Phe)
|
|
|
|
NM_000527.5(LDLR):c.1772_1773inv (p.Asn591Ser)
|
|
|
|
NM_000527.5(LDLR):c.1772dup (p.Asn591fs)
|
|
|
|
NM_000527.5(LDLR):c.1773_1774delinsT (p.Gly593fs)
|
rs1057519676
|
|
|
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.1776_1778del (p.Gly593del)
|
rs875989931
|
|
|
NM_000527.5(LDLR):c.1777G>T (p.Gly593Cys)
|
rs544456198
|
|
|
NM_000527.5(LDLR):c.1778G>A (p.Gly593Asp)
|
|
|
|
NM_000527.5(LDLR):c.1778del (p.Gly593fs)
|
rs875989931
|
|
|
NM_000527.5(LDLR):c.1778dup (p.Asn594fs)
|
rs875989931
|
|
|
NM_000527.5(LDLR):c.1779C>A (p.Gly593=)
|
rs1263256149
|
|
|
NM_000527.5(LDLR):c.1779del (p.Asn594fs)
|
rs879255019
|
|
|
NM_000527.5(LDLR):c.177C>T (p.Ser59=)
|
rs2147210742
|
|
|
NM_000527.5(LDLR):c.1782C>G (p.Asn594Lys)
|
rs763027570
|
|
|
NM_000527.5(LDLR):c.1783C>A (p.Arg595=)
|
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
|
NM_000527.5(LDLR):c.1784G>T (p.Arg595Leu)
|
rs201102492
|
|
|
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs)
|
rs879255020
|
|
|
NM_000527.5(LDLR):c.1786A>G (p.Lys596Glu)
|
rs879255021
|
|
|
NM_000527.5(LDLR):c.1786A>T (p.Lys596Ter)
|
rs879255021
|
|
|
NM_000527.5(LDLR):c.1789del (p.Thr597fs)
|
rs879255022
|
|
|
NM_000527.5(LDLR):c.178C>T (p.Gln60Ter)
|
rs794728585
|
|
|
NM_000527.5(LDLR):c.178del (p.Gln60fs)
|
rs1555802312
|
|
|
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.1793T>C (p.Ile598Thr)
|
rs879255024
|
|
|
NM_000527.5(LDLR):c.1794_1795del (p.Leu599fs)
|
|
|
|
NM_000527.5(LDLR):c.1794_1797del (p.Ile598fs)
|
|
|
|
NM_000527.5(LDLR):c.1795T>C (p.Leu599=)
|
rs1472402792
|
|
|
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.1798G>T (p.Glu600Ter)
|
rs879255026
|
|
|
NM_000527.5(LDLR):c.17G>A (p.Trp6Ter)
|
rs2077057318
|
|
|
NM_000527.5(LDLR):c.1800G>A (p.Glu600=)
|
|
|
|
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
|
|
|
|
NM_000527.5(LDLR):c.1800G>T (p.Glu600Asp)
|
|
|
|
NM_000527.5(LDLR):c.1801G>A (p.Asp601Asn)
|
|
|
|
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
|
|
|
|
NM_000527.5(LDLR):c.1801G>T (p.Asp601Tyr)
|
rs753707206
|
|
|
NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly)
|
rs879255027
|
|
|
NM_000527.5(LDLR):c.1802A>T (p.Asp601Val)
|
rs879255027
|
|
|
NM_000527.5(LDLR):c.1802dup (p.Asp601fs)
|
rs879255028
|
|
|
NM_000527.5(LDLR):c.1803T>C (p.Asp601=)
|
rs2147257837
|
|
|
NM_000527.5(LDLR):c.1804G>T (p.Glu602Ter)
|
|
|
|
NM_000527.5(LDLR):c.1807A>T (p.Lys603Ter)
|
rs879255029
|
|
|
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg)
|
rs1302327551
|
|
|
NM_000527.5(LDLR):c.1809G>A (p.Lys603=)
|
|
|
|
NM_000527.5(LDLR):c.1809G>C (p.Lys603Asn)
|
rs879255030
|
|
|
NM_000527.5(LDLR):c.1811delinsCT (p.Arg604fs)
|
rs1555806529
|
|
|
NM_000527.5(LDLR):c.1812G>A (p.Arg604=)
|
|
|
|
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.1815_1825del (p.Ala606fs)
|
rs879255032
|
|
|
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)
|
rs72658865
|
|
|
NM_000527.5(LDLR):c.1818C>G (p.Ala606=)
|
rs2147257930
|
|
|
NM_000527.5(LDLR):c.1819C>G (p.His607Asp)
|
|
|
|
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.181G>T (p.Glu61Ter)
|
rs2077195468
|
|
|
NM_000527.5(LDLR):c.1820A>C (p.His607Pro)
|
|
|
|
NM_000527.5(LDLR):c.1820A>G (p.His607Arg)
|
rs879255033
|
|
|
NM_000527.5(LDLR):c.1821C>T (p.His607=)
|
|
|
|
NM_000527.5(LDLR):c.1822C>A (p.Pro608Thr)
|
rs879255034
|
|
|
NM_000527.5(LDLR):c.1823C>A (p.Pro608His)
|
|
|
|
NM_000527.5(LDLR):c.1823C>G (p.Pro608Arg)
|
rs879255035
|
|
|
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu)
|
rs879255035
|
|
|
NM_000527.5(LDLR):c.1824C>A (p.Pro608=)
|
|
|
|
NM_000527.5(LDLR):c.1824del (p.Phe609fs)
|
rs2147257944
|
|
|
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.1829_1840dup (p.Ser610_Val613dup)
|
rs1555806546
|
|
|
NM_000527.5(LDLR):c.1830_1839del (p.Ala612fs)
|
rs886039834
|
|
|
NM_000527.5(LDLR):c.1831T>C (p.Leu611=)
|
|
|
|
NM_000527.5(LDLR):c.1832dup (p.Leu611fs)
|
rs879255039
|
|
|
NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe)
|
rs879255041
|
|
|
NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe)
|
rs879255041
|
|
|
NM_000527.5(LDLR):c.1833_1841del (p.Leu611_Val613del)
|
rs879255040
|
|
|
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.1837_1840del (p.Val613fs)
|
|
|
|
NM_000527.5(LDLR):c.183G>A (p.Glu61=)
|
rs2147210752
|
|
|
NM_000527.5(LDLR):c.1840T>A (p.Phe614Ile)
|
rs879255043
|
|
|
NM_000527.5(LDLR):c.1841_1842del (p.Val613_Phe614insTer)
|
rs879255044
|
|
|
NM_000527.5(LDLR):c.1842_1845+2del
|
rs1555806582
|
|
|
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys)
|
rs879255045
|
|
|
NM_000527.5(LDLR):c.1844A>T (p.Glu615Val)
|
rs879255046
|
|
|
NM_000527.5(LDLR):c.1845+11C>G
|
rs370245937
|
|
|
NM_000527.5(LDLR):c.1845+12G>A
|
|
|
|
NM_000527.5(LDLR):c.1845+15C>A
|
rs759867686
|
|
|
NM_000527.5(LDLR):c.1845+15C>T
|
rs759867686
|
|
|
NM_000527.5(LDLR):c.1845+16G>A
|
|
|
|
NM_000527.5(LDLR):c.1845+18G>A
|
|
|
|
NM_000527.5(LDLR):c.1845+1G>A
|
rs879255049
|
|
|
NM_000527.5(LDLR):c.1845+1G>C
|
|
|
|
NM_000527.5(LDLR):c.1845+1G>T
|
rs879255049
|
|
|
NM_000527.5(LDLR):c.1845+1del
|
|
|
|
NM_000527.5(LDLR):c.1845+2T>A
|
rs778408161
|
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
|
NM_000527.5(LDLR):c.1845+2del
|
|
|
|
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.1845+915_2141-498del
|
|
|
|
NM_000527.5(LDLR):c.1845G>C (p.Glu615Asp)
|
|
|
|
NM_000527.5(LDLR):c.1846-10G>A
|
rs368243304
|
|
|
NM_000527.5(LDLR):c.1846-11T>A
|
rs2147264751
|
|
|
NM_000527.5(LDLR):c.1846-13G>C
|
|
|
|
NM_000527.5(LDLR):c.1846-19T>C
|
|
|
|
NM_000527.5(LDLR):c.1846-1G>C
|
rs879255051
|
|
|
NM_000527.5(LDLR):c.1846-1G>T
|
|
|
|
NM_000527.5(LDLR):c.1846-1_1847dup
|
rs2147264768
|
|
|
NM_000527.5(LDLR):c.1846-20C>A
|
|
|
|
NM_000527.5(LDLR):c.1846-2A>C
|
rs879255050
|
|
|
NM_000527.5(LDLR):c.1846-4_1850del
|
|
|
|
NM_000527.5(LDLR):c.1846-7T>C
|
rs2147264763
|
|
|
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.1846-9C>T
|
rs1568610732
|
|
|
NM_000527.5(LDLR):c.1846_1865del (p.Asp616fs)
|
rs1131692219
|
|
|
NM_000527.5(LDLR):c.1848C>T (p.Asp616=)
|
rs2077522347
|
|
|
NM_000527.5(LDLR):c.1849A>G (p.Lys617Glu)
|
|
|
|
NM_000527.5(LDLR):c.1851del (p.Val618fs)
|
rs1568610747
|
|
|
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.1855_1856insA (p.Phe619fs)
|
rs879255053
|
|
|
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.1858T>C (p.Trp620Arg)
|
rs879255055
|
|
|
NM_000527.5(LDLR):c.1859G>A (p.Trp620Ter)
|
|
|
|
NM_000527.5(LDLR):c.1859G>C (p.Trp620Ser)
|
rs879255056
|
|
|
NM_000527.5(LDLR):c.185C>G (p.Thr62Arg)
|
rs376207800
|
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
|
NM_000527.5(LDLR):c.185_186insT (p.Cys63fs)
|
rs879254425
|
|
|
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)
|
rs875989933
|
|
|
NM_000527.5(LDLR):c.1860G>C (p.Trp620Cys)
|
rs875989933
|
|
|
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
|
NM_000527.5(LDLR):c.1860dup (p.Thr621fs)
|
rs879255057
|
|
|
NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg)
|
rs879255058
|
|
|
NM_000527.5(LDLR):c.1862C>T (p.Thr621Ile)
|
rs879255058
|
|
|
NM_000527.5(LDLR):c.1863A>C (p.Thr621=)
|
rs768509914
|
|
|
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.1864G>C (p.Asp622His)
|
|
|
|
NM_000527.5(LDLR):c.1865A>C (p.Asp622Ala)
|
rs879255060
|
|
|
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly)
|
rs879255060
|
|
|
NM_000527.5(LDLR):c.1867A>T (p.Ile623Phe)
|
|
|
|
NM_000527.5(LDLR):c.1867_1868del (p.Ile623fs)
|
rs879255061
|
|
|
NM_000527.5(LDLR):c.1867dup (p.Ile623fs)
|
rs1555807206
|
|
|
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
|
|
|
|
NM_000527.5(LDLR):c.1869C>A (p.Ile623=)
|
rs765202964
|
|
|
NM_000527.5(LDLR):c.1872del (p.Asn625fs)
|
rs879255063
|
|
|
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr)
|
rs879255064
|
|
|
NM_000527.5(LDLR):c.1874A>G (p.Asn625Ser)
|
rs879255064
|
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
|
NM_000527.5(LDLR):c.1876del (p.Glu626fs)
|
rs879255065
|
|
|
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.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.1883T>C (p.Ile628Thr)
|
rs879255067
|
|
|
NM_000527.5(LDLR):c.1885T>G (p.Phe629Val)
|
rs765736500
|
|
|
NM_000527.5(LDLR):c.1885_1886insA (p.Phe629fs)
|
|
|
|
NM_000527.5(LDLR):c.1885_1889delinsGATCATCAACC (p.Phe629_Ser630delinsAspHisGlnPro)
|
|
|
|
NM_000527.5(LDLR):c.1886del (p.Phe629fs)
|
rs879255068
|
|
|
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.188G>A (p.Cys63Tyr)
|
rs879254427
|
|
|
NM_000527.5(LDLR):c.188G>T (p.Cys63Phe)
|
rs879254427
|
|
|
NM_000527.5(LDLR):c.1890T>G (p.Ser630Arg)
|
rs1292632022
|
|
|
NM_000527.5(LDLR):c.1891_2311+1062del
|
|
|
|
NM_000527.5(LDLR):c.1891_2311+1065del
|
|
|
|
NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp)
|
rs879255070
|
|
|
NM_000527.5(LDLR):c.1895A>G (p.Asn632Ser)
|
|
|
|
NM_000527.5(LDLR):c.1895A>T (p.Asn632Ile)
|
rs1202258257
|
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
|
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu)
|
rs754536745
|
|
|
NM_000527.5(LDLR):c.18G>A (p.Trp6Ter)
|
|
|
|
NM_000527.5(LDLR):c.190+10C>G
|
rs371130326
|
|
|
NM_000527.5(LDLR):c.190+10C>T
|
|
|
|
NM_000527.5(LDLR):c.190+16G>A
|
|
|
|
NM_000527.5(LDLR):c.190+1G>A
|
rs879254428
|
|
|
NM_000527.5(LDLR):c.190+1G>T
|
rs879254428
|
|
|
NM_000527.5(LDLR):c.190+20G>T
|
|
|
|
NM_000527.5(LDLR):c.190+2T>G
|
rs879254430
|
|
|
NM_000527.5(LDLR):c.190+2_190+3del
|
|
|
|
NM_000527.5(LDLR):c.190+4_190+7del
|
rs2147210820
|
|
|
NM_000527.5(LDLR):c.190+5G>A
|
rs1131692190
|
|
|
NM_000527.5(LDLR):c.190+7C>A
|
rs2147210840
|
|
|
NM_000527.5(LDLR):c.190+8C>G
|
|
|
|
NM_000527.5(LDLR):c.1902C>G (p.Leu634=)
|
rs1294679576
|
|
|
NM_000527.5(LDLR):c.1904C>T (p.Thr635Ile)
|
rs879255071
|
|
|
NM_000527.5(LDLR):c.1904_1905del (p.Thr635fs)
|
rs2077524382
|
|
|
NM_000527.5(LDLR):c.1905A>G (p.Thr635=)
|
|
|
|
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.1909T>A (p.Ser637Thr)
|
|
|
|
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.191-1G>A
|
rs879254433
|
|
|
NM_000527.5(LDLR):c.191-1G>T
|
rs879254433
|
|
|
NM_000527.5(LDLR):c.191-20C>T
|
|
|
|
NM_000527.5(LDLR):c.191-252_191-247del
|
rs879254431
|
|
|
NM_000527.5(LDLR):c.191-2A>G
|
rs544203837
|
|
|
NM_000527.5(LDLR):c.191-2delinsCT
|
rs879254432
|
|
|
NM_000527.5(LDLR):c.191-3T>G
|
rs2077229353
|
|
|
NM_000527.5(LDLR):c.191-512_940+631del
|
|
|
|
NM_000527.5(LDLR):c.191-5T>C
|
rs770931363
|
|
|
NM_000527.5(LDLR):c.191-732_740del
|
|
|
|
NM_000527.5(LDLR):c.1910C>G (p.Ser637Cys)
|
|
|
|
NM_000527.5(LDLR):c.1911C>A (p.Ser637=)
|
|
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
|
NM_000527.5(LDLR):c.1914T>C (p.Asp638=)
|
|
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
|
NM_000527.5(LDLR):c.1916T>G (p.Val639Gly)
|
rs794728584
|
|
|
NM_000527.5(LDLR):c.191T>A (p.Leu64Ter)
|
rs774016801
|
|
|
NM_000527.5(LDLR):c.1924T>C (p.Leu642=)
|
rs2147265150
|
|
|
NM_000527.5(LDLR):c.1925T>C (p.Leu642Ser)
|
rs879255073
|
|
|
NM_000527.5(LDLR):c.1926G>A (p.Leu642=)
|
rs2077525029
|
|
|
NM_000527.5(LDLR):c.1927G>C (p.Ala643Pro)
|
rs879255074
|
|
|
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val)
|
rs879255075
|
|
|
NM_000527.5(LDLR):c.1934dup (p.Asn645fs)
|
rs879255076
|
|
|
NM_000527.5(LDLR):c.1935_1936insA (p.Leu646fs)
|
rs879255077
|
|
|
NM_000527.5(LDLR):c.1936C>A (p.Leu646Ile)
|
rs779940524
|
|
|
NM_000527.5(LDLR):c.1936C>T (p.Leu646=)
|
|
|
|
NM_000527.5(LDLR):c.1936del (p.Leu646fs)
|
rs879255078
|
|
|
NM_000527.5(LDLR):c.1937T>A (p.Leu646Gln)
|
rs1555807261
|
|
|
NM_000527.5(LDLR):c.1938A>G (p.Leu646=)
|
|
|
|
NM_000527.5(LDLR):c.1939C>T (p.Leu647=)
|
rs1600742572
|
|
|
NM_000527.5(LDLR):c.193_201delinsGACTTCA (p.Ser65fs)
|
rs879254434
|
|
|
NM_000527.5(LDLR):c.1942T>C (p.Ser648Pro)
|
rs879255079
|
|
|
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
|
|
|
|
NM_000527.5(LDLR):c.1943_1944delinsG (p.Ser648fs)
|
rs2147265230
|
|
|
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.1946del (p.Pro649fs)
|
rs879255082
|
|
|
NM_000527.5(LDLR):c.1946dup (p.Glu650fs)
|
rs879255082
|
|
|
NM_000527.5(LDLR):c.1948G>A (p.Glu650Lys)
|
rs768724935
|
|
|
NM_000527.5(LDLR):c.1948_1952dup (p.Asp651fs)
|
rs1555807275
|
|
|
NM_000527.5(LDLR):c.1950G>A (p.Glu650=)
|
rs776805847
|
|
|
NM_000527.5(LDLR):c.1951G>T (p.Asp651Tyr)
|
rs730882110
|
|
|
NM_000527.5(LDLR):c.1952A>G (p.Asp651Gly)
|
|
|
|
NM_000527.5(LDLR):c.1952A>T (p.Asp651Val)
|
rs563382937
|
|
|
NM_000527.5(LDLR):c.1953T>C (p.Asp651=)
|
rs2147265292
|
|
|
NM_000527.5(LDLR):c.1953_1965del (p.Met652fs)
|
|
|
|
NM_000527.5(LDLR):c.1954A>T (p.Met652Leu)
|
rs730882111
|
|
|
NM_000527.5(LDLR):c.1954_1955del (p.Met652fs)
|
rs875989935
|
|
|
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.1958_1959delinsCC (p.Val653Ala)
|
rs2077526251
|
|
|
NM_000527.5(LDLR):c.195T>C (p.Ser65=)
|
|
|
|
NM_000527.5(LDLR):c.195_196insA (p.Val66fs)
|
rs1555802710
|
|
|
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs)
|
rs879254435
|
|
|
NM_000527.5(LDLR):c.195dup (p.Val66fs)
|
rs879254435
|
|
|
NM_000527.5(LDLR):c.1960C>T (p.Leu654Phe)
|
rs879255087
|
|
|
NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro)
|
rs2077526349
|
|
|
NM_000527.5(LDLR):c.1961_1965dup (p.His656fs)
|
rs879255088
|
|
|
NM_000527.5(LDLR):c.1962C>G (p.Leu654=)
|
rs2077526378
|
|
|
NM_000527.5(LDLR):c.1962C>T (p.Leu654=)
|
rs2077526378
|
|
|
NM_000527.5(LDLR):c.1963T>C (p.Phe655Leu)
|
|
|
|
NM_000527.5(LDLR):c.1964del (p.Phe655fs)
|
rs879255089
|
|
|
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu)
|
rs879255090
|
|
|
NM_000527.5(LDLR):c.1965_1966delinsG (p.Phe655fs)
|
rs2147265360
|
|
|
NM_000527.5(LDLR):c.1966C>T (p.His656Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1968C>G (p.His656Gln)
|
rs879255091
|
|
|
NM_000527.5(LDLR):c.196_197del (p.Val66fs)
|
rs875989889
|
|
|
NM_000527.5(LDLR):c.1970A>G (p.Asn657Ser)
|
|
|
|
NM_000527.5(LDLR):c.1971C>A (p.Asn657Lys)
|
rs1057519678
|
|
|
NM_000527.5(LDLR):c.1973T>C (p.Leu658Pro)
|
rs879255092
|
|
|
NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro)
|
rs773693079
|
|
|
NM_000527.5(LDLR):c.1975_1987+16del
|
rs879255093
|
|
|
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>C (p.Gln660Pro)
|
rs879255095
|
|
|
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg)
|
rs879255095
|
|
|
NM_000527.5(LDLR):c.1980G>A (p.Gln660=)
|
|
|
|
NM_000527.5(LDLR):c.1980G>C (p.Gln660His)
|
rs1382517876
|
|
|
NM_000527.5(LDLR):c.1980_1983del (p.Pro661fs)
|
rs1057519679
|
|
|
NM_000527.5(LDLR):c.1981C>G (p.Pro661Ala)
|
rs1182317785
|
|
|
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
|
|
|
|
NM_000527.5(LDLR):c.1984A>G (p.Arg662Gly)
|
|
|
|
NM_000527.5(LDLR):c.1984A>T (p.Arg662Ter)
|
|
|
|
NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys)
|
rs1568611349
|
|
|
NM_000527.5(LDLR):c.1986_1987delinsC (p.Arg662fs)
|
rs879255096
|
|
|
NM_000527.5(LDLR):c.1987+14A>C
|
|
|
|
NM_000527.5(LDLR):c.1987+19C>T
|
|
|
|
NM_000527.5(LDLR):c.1987+1del
|
rs879255097
|
|
|
NM_000527.5(LDLR):c.1987+20A>G
|
|
|
|
NM_000527.5(LDLR):c.1987+2T>A
|
rs1600742966
|
|
|
NM_000527.5(LDLR):c.1987+2T>G
|
rs1600742966
|
|
|
NM_000527.5(LDLR):c.1987+2_1987+34del
|
rs879255098
|
|
|
NM_000527.5(LDLR):c.1987+47G>A
|
rs368167279
|
|
|
NM_000527.5(LDLR):c.1987+5G>A
|
rs2077527479
|
|
|
NM_000527.5(LDLR):c.1987+6G>C
|
rs752382813
|
|
|
NM_000527.5(LDLR):c.1987+8T>G
|
rs762335641
|
|
|
NM_000527.5(LDLR):c.1987+8dup
|
rs879255099
|
|
|
NM_000527.5(LDLR):c.1987+9G>T
|
rs2147265519
|
|
|
NM_000527.5(LDLR):c.1987G>A (p.Gly663Arg)
|
rs878951797
|
|
|
NM_000527.5(LDLR):c.1988-13T>C
|
rs200201131
|
|
|
NM_000527.5(LDLR):c.1988-17del
|
|
|
|
NM_000527.5(LDLR):c.1988-18C>T
|
|
|
|
NM_000527.5(LDLR):c.1988-1G>A
|
rs1555807335
|
|
|
NM_000527.5(LDLR):c.1988-1G>C
|
rs1555807335
|
|
|
NM_000527.5(LDLR):c.1988-20C>T
|
|
|
|
NM_000527.5(LDLR):c.1988-2A>G
|
rs879255101
|
|
|
NM_000527.5(LDLR):c.1988-2A>T
|
rs879255101
|
|
|
NM_000527.5(LDLR):c.1988-3dup
|
|
|
|
NM_000527.5(LDLR):c.1988-42G>A
|
rs879255100
|
|
|
NM_000527.5(LDLR):c.1988-52_2006del
|
rs1555807306
|
|
|
NM_000527.5(LDLR):c.1988-5C>T
|
rs375877599
|
|
|
NM_000527.5(LDLR):c.1988G>A (p.Gly663Glu)
|
rs879255102
|
|
|
NM_000527.5(LDLR):c.1988G>C (p.Gly663Ala)
|
rs879255102
|
|
|
NM_000527.5(LDLR):c.1988_2140+1064del
|
|
|
|
NM_000527.5(LDLR):c.1990G>A (p.Val664Met)
|
rs879255103
|
|
|
NM_000527.5(LDLR):c.1993A>T (p.Asn665Tyr)
|
rs2077529922
|
|
|
NM_000527.5(LDLR):c.1995C>G (p.Asn665Lys)
|
|
|
|
NM_000527.5(LDLR):c.1995C>T (p.Asn665=)
|
rs2077529992
|
|
|
NM_000527.5(LDLR):c.1996_2012del (p.Trp666fs)
|
rs879255104
|
|
|
NM_000527.5(LDLR):c.1997G>A (p.Trp666Ter)
|
|
|
|
NM_000527.5(LDLR):c.1997G>T (p.Trp666Leu)
|
rs879255105
|
|
|
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter)
|
rs752935814
|
|
|
NM_000527.5(LDLR):c.1998del (p.Trp666fs)
|
rs879255106
|
|
|
NM_000527.5(LDLR):c.1999T>A (p.Cys667Ser)
|
rs150021927
|
|
|
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
|
|
|
|
NM_000527.5(LDLR):c.1999T>G (p.Cys667Gly)
|
|
|
|
NM_000527.5(LDLR):c.199dup (p.Thr67fs)
|
rs879254436
|
|
|
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.2000G>T (p.Cys667Phe)
|
rs28942083
|
|
|
NM_000527.5(LDLR):c.2000del (p.Cys667fs)
|
rs879255107
|
|
|
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter)
|
rs879255109
|
|
|
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.2001_2007del (p.Trp666_Cys667insTer)
|
rs879255108
|
|
|
NM_000527.5(LDLR):c.2001del (p.Cys667fs)
|
rs1060500988
|
|
|
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.2007G>T (p.Arg669Ser)
|
|
|
|
NM_000527.5(LDLR):c.2009C>T (p.Thr670Ile)
|
|
|
|
NM_000527.5(LDLR):c.2010C>T (p.Thr670=)
|
|
|
|
NM_000527.5(LDLR):c.2011del (p.Thr671fs)
|
rs1555807356
|
|
|
NM_000527.5(LDLR):c.2013C>T (p.Thr671=)
|
rs550649956
|
|
|
NM_000527.5(LDLR):c.2013_2014del (p.Leu672fs)
|
rs879255110
|
|
|
NM_000527.5(LDLR):c.2014C>T (p.Leu672=)
|
|
|
|
NM_000527.5(LDLR):c.2014del (p.Thr671_Leu672insTer)
|
rs879255110
|
|
|
NM_000527.5(LDLR):c.2015del (p.Leu672fs)
|
rs879255112
|
|
|
NM_000527.5(LDLR):c.2016G>A (p.Leu672=)
|
rs2147265941
|
|
|
NM_000527.5(LDLR):c.2016G>C (p.Leu672=)
|
|
|
|
NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg)
|
|
|
|
NM_000527.5(LDLR):c.2019C>T (p.Ser673=)
|
rs1344440347
|
|
|
NM_000527.5(LDLR):c.201C>G (p.Thr67=)
|
|
|
|
NM_000527.5(LDLR):c.2022dup (p.Gly675fs)
|
rs2147265977
|
|
|
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.2026G>T (p.Gly676Cys)
|
rs745753810
|
|
|
NM_000527.5(LDLR):c.2027del (p.Gly676fs)
|
rs875989937
|
|
|
NM_000527.5(LDLR):c.202T>C (p.Cys68Arg)
|
rs1057519652
|
|
|
NM_000527.5(LDLR):c.202T>G (p.Cys68Gly)
|
rs1057519652
|
|
|
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.2030_2042del (p.Cys677fs)
|
rs879255113
|
|
|
NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter)
|
rs879255114
|
|
|
NM_000527.5(LDLR):c.2033_2044del (p.Gln678_Cys681del)
|
rs879255115
|
|
|
NM_000527.5(LDLR):c.2034G>T (p.Gln678His)
|
|
|
|
NM_000527.5(LDLR):c.2035dup (p.Tyr679fs)
|
rs879255116
|
|
|
NM_000527.5(LDLR):c.2036dup (p.Tyr679Ter)
|
rs879255117
|
|
|
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.203G>T (p.Cys68Phe)
|
rs2077229853
|
|
|
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.2044C>T (p.Leu682Phe)
|
rs1131692220
|
|
|
NM_000527.5(LDLR):c.2045T>C (p.Leu682Pro)
|
rs879255119
|
|
|
NM_000527.5(LDLR):c.2045T>G (p.Leu682Arg)
|
rs879255119
|
|
|
NM_000527.5(LDLR):c.2046C>T (p.Leu682=)
|
|
|
|
NM_000527.5(LDLR):c.2046_2049del (p.Ala684fs)
|
rs879255120
|
|
|
NM_000527.5(LDLR):c.2048C>T (p.Pro683Leu)
|
rs766765648
|
|
|
NM_000527.5(LDLR):c.2049T>G (p.Pro683=)
|
|
|
|
NM_000527.5(LDLR):c.204C>A (p.Cys68Ter)
|
rs879254437
|
|
|
NM_000527.5(LDLR):c.2050_2063del (p.Ala684fs)
|
rs879255121
|
|
|
NM_000527.5(LDLR):c.2050_2063delinsC (p.Ala684fs)
|
rs1555807390
|
|
|
NM_000527.5(LDLR):c.2050del (p.Ala684fs)
|
rs1555807388
|
|
|
NM_000527.5(LDLR):c.2051C>T (p.Ala684Val)
|
|
|
|
NM_000527.5(LDLR):c.2052C>G (p.Ala684=)
|
rs760034984
|
|
|
NM_000527.5(LDLR):c.2052C>T (p.Ala684=)
|
rs760034984
|
|
|
NM_000527.5(LDLR):c.2053C>A (p.Pro685Thr)
|
rs2569548
|
|
|
NM_000527.5(LDLR):c.2053C>G (p.Pro685Ala)
|
|
|
|
NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser)
|
rs2569548
|
|
|
NM_000527.5(LDLR):c.2054C>A (p.Pro685Gln)
|
rs28942084
|
|
|
NM_000527.5(LDLR):c.2054C>G (p.Pro685Arg)
|
|
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
|
NM_000527.5(LDLR):c.2054del (p.Pro685fs)
|
rs879255122
|
|
|
NM_000527.5(LDLR):c.2055_2067del (p.Gln686fs)
|
rs879255123
|
|
|
NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs)
|
rs2077532372
|
|
|
NM_000527.5(LDLR):c.2055del (p.Gln686fs)
|
rs879255124
|
|
|
NM_000527.5(LDLR):c.2056C>G (p.Gln686Glu)
|
rs879255126
|
|
|
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter)
|
rs879255126
|
|
|
NM_000527.5(LDLR):c.2056_2068del (p.Gln686fs)
|
rs879255125
|
|
|
NM_000527.5(LDLR):c.2059A>T (p.Ile687Phe)
|
rs1060499932
|
|
|
NM_000527.5(LDLR):c.2060del (p.Ile687fs)
|
rs879255127
|
|
|
NM_000527.5(LDLR):c.2060dup (p.Asn688fs)
|
rs751228587
|
|
|
NM_000527.5(LDLR):c.2061C>T (p.Ile687=)
|
|
|
|
NM_000527.5(LDLR):c.2061del (p.Asn688fs)
|
rs1131692221
|
|
|
NM_000527.5(LDLR):c.2062_2063insC (p.Asn688fs)
|
rs1555807421
|
|
|
NM_000527.5(LDLR):c.2063A>G (p.Asn688Ser)
|
|
|
|
NM_000527.5(LDLR):c.2063del (p.Asn688fs)
|
rs879255128
|
|
|
NM_000527.5(LDLR):c.2063dup (p.Asn688fs)
|
rs879255128
|
|
|
NM_000527.5(LDLR):c.2068C>G (p.His690Asp)
|
rs757009067
|
|
|
NM_000527.5(LDLR):c.2068C>T (p.His690Tyr)
|
|
|
|
NM_000527.5(LDLR):c.2068del (p.His690fs)
|
rs879255130
|
|
|
NM_000527.5(LDLR):c.2068dup (p.His690fs)
|
|
|
|
NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter)
|
rs369943481
|
|
|
NM_000527.5(LDLR):c.2073G>A (p.Ser691=)
|
rs146869252
|
|
|
NM_000527.5(LDLR):c.2073G>T (p.Ser691=)
|
rs146869252
|
|
|
NM_000527.5(LDLR):c.2076C>G (p.Pro692=)
|
|
|
|
NM_000527.5(LDLR):c.2077A>C (p.Lys693Gln)
|
|
|
|
NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs)
|
rs879255131
|
|
|
NM_000527.5(LDLR):c.2078A>G (p.Lys693Arg)
|
|
|
|
NM_000527.5(LDLR):c.2078dup (p.Phe694fs)
|
rs1057519682
|
|
|
NM_000527.5(LDLR):c.2079G>A (p.Lys693=)
|
rs551528700
|
|
|
NM_000527.5(LDLR):c.2080T>G (p.Phe694Val)
|
rs879255132
|
|
|
NM_000527.5(LDLR):c.2083A>C (p.Thr695Pro)
|
rs1600744007
|
|
|
NM_000527.5(LDLR):c.2083A>G (p.Thr695Ala)
|
rs1600744007
|
|
|
NM_000527.5(LDLR):c.2085C>T (p.Thr695=)
|
|
|
|
NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs)
|
rs879255133
|
|
|
NM_000527.5(LDLR):c.2085del (p.Cys696fs)
|
rs1057519683
|
|
|
NM_000527.5(LDLR):c.2086T>C (p.Cys696Arg)
|
rs1555807435
|
|
|
NM_000527.5(LDLR):c.2087G>A (p.Cys696Tyr)
|
rs879255134
|
|
|
NM_000527.5(LDLR):c.2087G>T (p.Cys696Phe)
|
rs879255134
|
|
|
NM_000527.5(LDLR):c.2088C>A (p.Cys696Ter)
|
rs112954220
|
|
|
NM_000527.5(LDLR):c.2088C>G (p.Cys696Trp)
|
|
|
|
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr)
|
rs776217028
|
|
|
NM_000527.5(LDLR):c.2089G>C (p.Ala697Pro)
|
rs776217028
|
|
|
NM_000527.5(LDLR):c.2091C>T (p.Ala697=)
|
|
|
|
NM_000527.5(LDLR):c.2092T>C (p.Cys698Arg)
|
|
|
|
NM_000527.5(LDLR):c.2092T>G (p.Cys698Gly)
|
rs1555807442
|
|
|
NM_000527.5(LDLR):c.2092del (p.Cys698fs)
|
rs879255135
|
|
|
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
|
|
|
|
NM_000527.5(LDLR):c.2093G>C (p.Cys698Ser)
|
rs879255136
|
|
|
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe)
|
rs879255136
|
|
|
NM_000527.5(LDLR):c.2094C>A (p.Cys698Ter)
|
|
|
|
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp)
|
rs879255137
|
|
|
NM_000527.5(LDLR):c.2095C>T (p.Pro699Ser)
|
|
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
|
NM_000527.5(LDLR):c.2096del (p.Pro699fs)
|
rs879255138
|
|
|
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.2103C>T (p.Gly701=)
|
rs2147266491
|
|
|
NM_000527.5(LDLR):c.2106G>C (p.Met702Ile)
|
|
|
|
NM_000527.5(LDLR):c.2108_2111dup (p.Arg706fs)
|
rs879255140
|
|
|
NM_000527.5(LDLR):c.2108_2114del (p.Leu703fs)
|
rs879255141
|
|
|
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs)
|
rs879255141
|
|
|
NM_000527.5(LDLR):c.2110C>T (p.Leu704=)
|
rs2077534808
|
|
|
NM_000527.5(LDLR):c.2112G>A (p.Leu704=)
|
rs1386500934
|
|
|
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)
|
rs193922570
|
|
|
NM_000527.5(LDLR):c.2113del (p.Ala705fs)
|
rs2077534881
|
|
|
NM_000527.5(LDLR):c.2114C>T (p.Ala705Val)
|
|
|
|
NM_000527.5(LDLR):c.2116_2117insC (p.Arg706fs)
|
rs1555807465
|
|
|
NM_000527.5(LDLR):c.2119G>C (p.Asp707His)
|
|
|
|
NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr)
|
rs879255142
|
|
|
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val)
|
rs879255143
|
|
|
NM_000527.5(LDLR):c.2121C>A (p.Asp707Glu)
|
|
|
|
NM_000527.5(LDLR):c.2121_2128dup (p.Ser710delinsThrTer)
|
|
|
|
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.2127G>A (p.Arg709=)
|
|
|
|
NM_000527.5(LDLR):c.2127_2128delinsCT (p.Arg709_Ser710delinsSerCys)
|
rs2147266595
|
|
|
NM_000527.5(LDLR):c.2128_2131dup (p.Cys711Ter)
|
rs2147266606
|
|
|
NM_000527.5(LDLR):c.2129G>A (p.Ser710Asn)
|
|
|
|
NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser)
|
rs879255144
|
|
|
NM_000527.5(LDLR):c.2131T>C (p.Cys711Arg)
|
rs879255144
|
|
|
NM_000527.5(LDLR):c.2131T>G (p.Cys711Gly)
|
rs879255144
|
|
|
NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr)
|
rs879255145
|
|
|
NM_000527.5(LDLR):c.2132G>C (p.Cys711Ser)
|
rs879255145
|
|
|
NM_000527.5(LDLR):c.2132G>T (p.Cys711Phe)
|
rs879255145
|
|
|
NM_000527.5(LDLR):c.2133C>A (p.Cys711Ter)
|
rs879255146
|
|
|
NM_000527.5(LDLR):c.2133C>G (p.Cys711Trp)
|
|
|
|
NM_000527.5(LDLR):c.2134dup (p.Leu712fs)
|
rs1057519685
|
|
|
NM_000527.5(LDLR):c.2138C>G (p.Thr713Arg)
|
rs1218776502
|
|
|
NM_000527.5(LDLR):c.2138C>T (p.Thr713Ile)
|
|
|
|
NM_000527.5(LDLR):c.2140+11C>G
|
|
|
|
NM_000527.5(LDLR):c.2140+13C>T
|
|
|
|
NM_000527.5(LDLR):c.2140+14C>T
|
rs756150298
|
|
|
NM_000527.5(LDLR):c.2140+15T>C
|
|
|
|
NM_000527.5(LDLR):c.2140+16T>G
|
|
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
|
NM_000527.5(LDLR):c.2140+1G>C
|
rs145787161
|
|
|
NM_000527.5(LDLR):c.2140+1G>T
|
rs145787161
|
|
|
NM_000527.5(LDLR):c.2140+1_2140+12del
|
rs1555807475
|
|
|
NM_000527.5(LDLR):c.2140+20T>G
|
|
|
|
NM_000527.5(LDLR):c.2140+2T>A
|
rs879255147
|
|
|
NM_000527.5(LDLR):c.2140+2T>C
|
rs879255147
|
|
|
NM_000527.5(LDLR):c.2140+30G>A
|
|
|
|
NM_000527.5(LDLR):c.2140+3G>A
|
|
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
|
NM_000527.5(LDLR):c.2140+85C>A
|
|
|
|
NM_000527.5(LDLR):c.2140+86C>G
|
rs587776886
|
|
|
NM_000527.5(LDLR):c.2140+9C>T
|
rs879255148
|
|
|
NM_000527.5(LDLR):c.2140G>A (p.Glu714Lys)
|
rs869320652
|
|
|
NM_000527.5(LDLR):c.2140G>C (p.Glu714Gln)
|
rs869320652
|
|
|
NM_000527.5(LDLR):c.2141-10A>G
|
rs2147272715
|
|
|
NM_000527.5(LDLR):c.2141-14A>G
|
|
|
|
NM_000527.5(LDLR):c.2141-17T>G
|
|
|
|
NM_000527.5(LDLR):c.2141-18G>A
|
|
|
|
NM_000527.5(LDLR):c.2141-19C>T
|
|
|
|
NM_000527.5(LDLR):c.2141-1G>C
|
|
|
|
NM_000527.5(LDLR):c.2141-218G>A
|
|
|
|
NM_000527.5(LDLR):c.2141-2A>G
|
|
|
|
NM_000527.5(LDLR):c.2141-7C>A
|
rs2147272729
|
|
|
NM_000527.5(LDLR):c.2141-89G>A
|
rs183331751
|
|
|
NM_000527.5(LDLR):c.2141-9T>C
|
rs2147272719
|
|
|
NM_000527.5(LDLR):c.2141A>C (p.Glu714Ala)
|
|
|
|
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys)
|
rs879255149
|
|
|
NM_000527.5(LDLR):c.2146G>T (p.Glu716Ter)
|
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.2149G>A (p.Ala717Thr)
|
|
|
|
NM_000527.5(LDLR):c.214del (p.Asp72fs)
|
rs879254438
|
|
|
NM_000527.5(LDLR):c.2150C>G (p.Ala717Gly)
|
rs879255150
|
|
|
NM_000527.5(LDLR):c.2154A>G (p.Ala718=)
|
rs780348211
|
|
|
NM_000527.5(LDLR):c.2155G>C (p.Val719Leu)
|
rs879255151
|
|
|
NM_000527.5(LDLR):c.2158G>A (p.Ala720Thr)
|
|
|
|
NM_000527.5(LDLR):c.2161A>G (p.Thr721Ala)
|
rs2077583367
|
|
|
NM_000527.5(LDLR):c.2164C>T (p.Gln722Ter)
|
|
|
|
NM_000527.5(LDLR):c.2165A>G (p.Gln722Arg)
|
rs1301407364
|
|
|
NM_000527.5(LDLR):c.2167del (p.Glu723fs)
|
rs879255153
|
|
|
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile)
|
rs879255154
|
|
|
NM_000527.5(LDLR):c.2172A>T (p.Thr724=)
|
rs2147272846
|
|
|
NM_000527.5(LDLR):c.2175del (p.Thr726fs)
|
rs879255155
|
|
|
NM_000527.5(LDLR):c.2176A>G (p.Thr726Ala)
|
|
|
|
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.2178del (p.Val727fs)
|
rs879255156
|
|
|
NM_000527.5(LDLR):c.2180T>A (p.Val727Asp)
|
rs1568614490
|
|
|
NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs)
|
rs1555808044
|
|
|
NM_000527.5(LDLR):c.2184G>C (p.Arg728Ser)
|
|
|
|
NM_000527.5(LDLR):c.2184del (p.Arg728fs)
|
rs879255157
|
|
|
NM_000527.5(LDLR):c.2186dup (p.Val731fs)
|
rs879255158
|
|
|
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs)
|
rs879255159
|
|
|
NM_000527.5(LDLR):c.2190G>T (p.Lys730Asn)
|
|
|
|
NM_000527.5(LDLR):c.2191G>A (p.Val731Ile)
|
|
|
|
NM_000527.5(LDLR):c.2191_2195dup (p.Ser732fs)
|
rs2147272924
|
|
|
NM_000527.5(LDLR):c.2191_2203dup (p.Ala735fs)
|
rs879255160
|
|
|
NM_000527.5(LDLR):c.2191del (p.Val731fs)
|
rs879255161
|
|
|
NM_000527.5(LDLR):c.2193dup (p.Ser732fs)
|
rs2147272964
|
|
|
NM_000527.5(LDLR):c.2194_2198dup (p.Thr734fs)
|
rs2147272953
|
|
|
NM_000527.5(LDLR):c.2198C>T (p.Ser733Phe)
|
rs879255162
|
|
|
NM_000527.5(LDLR):c.2200A>G (p.Thr734Ala)
|
|
|
|
NM_000527.5(LDLR):c.2201_2202del (p.Thr734fs)
|
rs879255163
|
|
|
NM_000527.5(LDLR):c.2205C>G (p.Ala735=)
|
|
|
|
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)
|
rs763213863
|
|
|
NM_000527.5(LDLR):c.2207T>G (p.Val736Gly)
|
|
|
|
NM_000527.5(LDLR):c.2207dup (p.Arg737fs)
|
rs879255164
|
|
|
NM_000527.5(LDLR):c.2208A>T (p.Val736=)
|
rs1600751949
|
|
|
NM_000527.5(LDLR):c.2209A>G (p.Arg737Gly)
|
rs879255165
|
|
|
NM_000527.5(LDLR):c.2211G>A (p.Arg737=)
|
rs2077585097
|
|
|
NM_000527.5(LDLR):c.2213C>T (p.Thr738Ile)
|
|
|
|
NM_000527.5(LDLR):c.2215C>G (p.Gln739Glu)
|
|
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
|
NM_000527.5(LDLR):c.2220C>T (p.His740=)
|
|
|
|
NM_000527.5(LDLR):c.2224A>G (p.Thr742Ala)
|
rs1568614637
|
|
|
NM_000527.5(LDLR):c.2226del (p.Thr743fs)
|
rs879255166
|
|
|
NM_000527.5(LDLR):c.2227A>G (p.Thr743Ala)
|
rs2147273100
|
|
|
NM_000527.5(LDLR):c.2228C>T (p.Thr743Ile)
|
|
|
|
NM_000527.5(LDLR):c.2229_2234dup (p.Arg744_Pro745dup)
|
rs1131692222
|
|
|
NM_000527.5(LDLR):c.2230_2232delinsTGG (p.Arg744Trp)
|
|
|
|
NM_000527.5(LDLR):c.2230del (p.Arg744fs)
|
rs879255167
|
|
|
NM_000527.5(LDLR):c.2230dup (p.Arg744fs)
|
|
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
|
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln)
|
rs1555808091
|
|
|
NM_000527.5(LDLR):c.2232_2290del (p.Pro745fs)
|
rs2147273159
|
|
|
NM_000527.5(LDLR):c.2233C>T (p.Pro745Ser)
|
|
|
|
NM_000527.5(LDLR):c.2234C>T (p.Pro745Leu)
|
|
|
|
NM_000527.5(LDLR):c.2234_2244del (p.Pro745fs)
|
|
|
|
NM_000527.5(LDLR):c.2239C>T (p.Pro747Ser)
|
rs1484331319
|
|
|
NM_000527.5(LDLR):c.223T>G (p.Cys75Gly)
|
|
|
|
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.2242G>C (p.Asp748His)
|
|
|
|
NM_000527.5(LDLR):c.2244C>T (p.Asp748=)
|
|
|
|
NM_000527.5(LDLR):c.2247C>G (p.Thr749=)
|
rs2077586087
|
|
|
NM_000527.5(LDLR):c.2247C>T (p.Thr749=)
|
rs2077586087
|
|
|
NM_000527.5(LDLR):c.2249C>T (p.Ser750Phe)
|
|
|
|
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)
|
rs875989890
|
|
|
NM_000527.5(LDLR):c.2250C>T (p.Ser750=)
|
|
|
|
NM_000527.5(LDLR):c.2251del (p.Arg751fs)
|
rs1555808107
|
|
|
NM_000527.5(LDLR):c.2253G>A (p.Arg751=)
|
rs1555808114
|
|
|
NM_000527.5(LDLR):c.2253_2256dup (p.Pro753fs)
|
rs1555808111
|
|
|
NM_000527.5(LDLR):c.2259_2264del (p.Gly754_Ala755del)
|
|
|
|
NM_000527.5(LDLR):c.2259_2277del (p.Gly754fs)
|
|
|
|
NM_000527.5(LDLR):c.2259dup (p.Gly754fs)
|
rs1555808118
|
|
|
NM_000527.5(LDLR):c.225T>G (p.Cys75Trp)
|
rs758927662
|
|
|
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp)
|
rs559239150
|
|
|
NM_000527.5(LDLR):c.2262G>C (p.Gly754=)
|
|
|
|
NM_000527.5(LDLR):c.2263del (p.Ala755fs)
|
rs1555808120
|
|
|
NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs)
|
rs879255168
|
|
|
NM_000527.5(LDLR):c.2266del (p.Thr756fs)
|
rs879255169
|
|
|
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.2270del (p.Pro757fs)
|
rs1131692223
|
|
|
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
|
|
|
|
NM_000527.5(LDLR):c.2273G>A (p.Gly758Glu)
|
rs748540948
|
|
|
NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala)
|
rs748540948
|
|
|
NM_000527.5(LDLR):c.2273G>T (p.Gly758Val)
|
|
|
|
NM_000527.5(LDLR):c.2274G>A (p.Gly758=)
|
rs2147273345
|
|
|
NM_000527.5(LDLR):c.2274del (p.Leu759fs)
|
rs1555808139
|
|
|
NM_000527.5(LDLR):c.2279C>T (p.Thr760Ile)
|
rs1555808147
|
|
|
NM_000527.5(LDLR):c.227_233del (p.Gly76fs)
|
rs2147216927
|
|
|
NM_000527.5(LDLR):c.2282_2309del (p.Thr761fs)
|
rs1555808143
|
|
|
NM_000527.5(LDLR):c.2282_2309dup (p.Gln770fs)
|
rs1555808143
|
|
|
NM_000527.5(LDLR):c.2283G>A (p.Thr761=)
|
rs771325747
|
|
|
NM_000527.5(LDLR):c.2286_2311+2dup
|
|
|
|
NM_000527.5(LDLR):c.2287del (p.Glu763fs)
|
rs1057519686
|
|
|
NM_000527.5(LDLR):c.2287dup (p.Glu763fs)
|
rs1057519686
|
|
|
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)
|
rs774698247
|
|
|
NM_000527.5(LDLR):c.228G>A (p.Gly76=)
|
|
|
|
NM_000527.5(LDLR):c.2291T>G (p.Ile764Arg)
|
rs759440817
|
|
|
NM_000527.5(LDLR):c.2292del (p.Ile764fs)
|
rs875989941
|
|
|
NM_000527.5(LDLR):c.2294T>C (p.Val765Ala)
|
|
|
|
NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs)
|
rs1057519687
|
|
|
NM_000527.5(LDLR):c.2296A>G (p.Thr766Ala)
|
rs879255171
|
|
|
NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile)
|
rs879255173
|
|
|
NM_000527.5(LDLR):c.2297_2298del (p.Thr766fs)
|
rs879255172
|
|
|
NM_000527.5(LDLR):c.2298A>G (p.Thr766=)
|
|
|
|
NM_000527.5(LDLR):c.2299A>G (p.Met767Val)
|
|
|
|
NM_000527.5(LDLR):c.2299del (p.Met767fs)
|
rs879255174
|
|
|
NM_000527.5(LDLR):c.2300T>G (p.Met767Arg)
|
|
|
|
NM_000527.5(LDLR):c.2305C>T (p.His769Tyr)
|
|
|
|
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.2308C>T (p.Gln770Ter)
|
rs763625913
|
|
|
NM_000527.5(LDLR):c.230del (p.Gly77fs)
|
rs879254440
|
|
|
NM_000527.5(LDLR):c.230dup (p.Arg78fs)
|
rs879254440
|
|
|
NM_000527.5(LDLR):c.2311+12G>C
|
|
|
|
NM_000527.5(LDLR):c.2311+13C>T
|
|
|
|
NM_000527.5(LDLR):c.2311+16_2311+20dup
|
|
|
|
NM_000527.5(LDLR):c.2311+18C>T
|
|
|
|
NM_000527.5(LDLR):c.2311+1941_*1216dup
|
|
|
|
NM_000527.5(LDLR):c.2311+1G>A
|
rs879255175
|
|
|
NM_000527.5(LDLR):c.2311+1G>C
|
rs879255175
|
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
|
|
|
NM_000527.5(LDLR):c.2311+20T>G
|
|
|
|
NM_000527.5(LDLR):c.2311+251_*813del
|
|
|
|
NM_000527.5(LDLR):c.2311+2T>G
|
rs879255176
|
|
|
NM_000527.5(LDLR):c.2311+7A>G
|
|
|
|
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
|
|
|
|
NM_000527.5(LDLR):c.2311G>C (p.Ala771Pro)
|
|
|
|
NM_000527.5(LDLR):c.2312-14C>A
|
|
|
|
NM_000527.5(LDLR):c.2312-15G>T
|
|
|
|
NM_000527.5(LDLR):c.2312-1G>A
|
rs753047625
|
|
|
NM_000527.5(LDLR):c.2312-1G>T
|
|
|
|
NM_000527.5(LDLR):c.2312-2A>C
|
|
|
|
NM_000527.5(LDLR):c.2312-2A>G
|
rs2077660035
|
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
|
NM_000527.5(LDLR):c.2312-6C>T
|
rs1568618143
|
|
|
NM_000527.5(LDLR):c.2312-9C>G
|
rs2147283193
|
|
|
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
|
|
|
|
NM_000527.5(LDLR):c.2314C>T (p.Leu772=)
|
|
|
|
NM_000527.5(LDLR):c.2315T>C (p.Leu772Pro)
|
rs754328605
|
|
|
NM_000527.5(LDLR):c.2317_2318insTA (p.Gly773fs)
|
rs879255177
|
|
|
NM_000527.5(LDLR):c.2318del (p.Gly773fs)
|
rs879255178
|
|
|
NM_000527.5(LDLR):c.2319C>A (p.Gly773=)
|
rs377563758
|
|
|
NM_000527.5(LDLR):c.231C>T (p.Gly77=)
|
rs1425452256
|
|
|
NM_000527.5(LDLR):c.2320G>T (p.Asp774Tyr)
|
rs138190838
|
|
|
NM_000527.5(LDLR):c.2322_2342del (p.Asp774_Asn780del)
|
rs879255179
|
|
|
NM_000527.5(LDLR):c.2322del (p.Asp774fs)
|
|
|
|
NM_000527.5(LDLR):c.2323_2352del (p.Val775_Pro784del)
|
rs1131692224
|
|
|
NM_000527.5(LDLR):c.2326G>C (p.Ala776Pro)
|
|
|
|
NM_000527.5(LDLR):c.2329G>A (p.Gly777Ser)
|
|
|
|
NM_000527.5(LDLR):c.232del (p.Arg78fs)
|
rs879254442
|
|
|
NM_000527.5(LDLR):c.2330G>A (p.Gly777Asp)
|
|
|
|
NM_000527.5(LDLR):c.2330G>T (p.Gly777Val)
|
|
|
|
NM_000527.5(LDLR):c.2333_2334insC (p.Arg778fs)
|
|
|
|
NM_000527.5(LDLR):c.2334A>G (p.Arg778=)
|
|
|
|
NM_000527.5(LDLR):c.2337_2354del (p.Asn780_Ser785del)
|
|
|
|
NM_000527.5(LDLR):c.233del (p.Arg78fs)
|
rs1057516129
|
|
|
NM_000527.5(LDLR):c.2341G>A (p.Glu781Lys)
|
|
|
|
NM_000527.5(LDLR):c.2343_2347del (p.Lys782fs)
|
rs879255181
|
|
|
NM_000527.5(LDLR):c.2344A>T (p.Lys782Ter)
|
rs875989943
|
|
|
NM_000527.5(LDLR):c.2346G>A (p.Lys782=)
|
rs1057519688
|
|
|
NM_000527.5(LDLR):c.2349G>A (p.Lys783=)
|
rs2147283390
|
|
|
NM_000527.5(LDLR):c.234T>C (p.Arg78=)
|
|
|
|
NM_000527.5(LDLR):c.2350C>T (p.Pro784Ser)
|
rs2077661446
|
|
|
NM_000527.5(LDLR):c.2352C>A (p.Pro784=)
|
|
|
|
NM_000527.5(LDLR):c.2356A>T (p.Ser786Cys)
|
rs730882114
|
|
|
NM_000527.5(LDLR):c.2360T>A (p.Val787Glu)
|
rs879255182
|
|
|
NM_000527.5(LDLR):c.2363G>A (p.Arg788Lys)
|
|
|
|
NM_000527.5(LDLR):c.2364G>T (p.Arg788Ser)
|
rs879255183
|
|
|
NM_000527.5(LDLR):c.2365G>T (p.Ala789Ser)
|
|
|
|
NM_000527.5(LDLR):c.2366C>G (p.Ala789Gly)
|
rs1286799492
|
|
|
NM_000527.5(LDLR):c.2368C>T (p.Leu790=)
|
|
|
|
NM_000527.5(LDLR):c.2368_2369dup (p.Ser791fs)
|
|
|
|
NM_000527.5(LDLR):c.2368_2369insGACA (p.Leu790fs)
|
|
|
|
NM_000527.5(LDLR):c.2368_2374del (p.Ile792fs)
|
rs2077662026
|
|
|
NM_000527.5(LDLR):c.236T>A (p.Val79Asp)
|
|
|
|
NM_000527.5(LDLR):c.236dup (p.Asn80fs)
|
rs879254443
|
|
|
NM_000527.5(LDLR):c.2370G>C (p.Leu790=)
|
|
|
|
NM_000527.5(LDLR):c.2370_2389+20del
|
rs1600762098
|
|
|
NM_000527.5(LDLR):c.2374A>G (p.Ile792Val)
|
|
|
|
NM_000527.5(LDLR):c.2374A>T (p.Ile792Phe)
|
rs761123215
|
|
|
NM_000527.5(LDLR):c.2376T>A (p.Ile792=)
|
|
|
|
NM_000527.5(LDLR):c.2376T>C (p.Ile792=)
|
rs2077662374
|
|
|
NM_000527.5(LDLR):c.2376del (p.Ile792fs)
|
|
|
|
NM_000527.5(LDLR):c.2379C>T (p.Val793=)
|
|
|
|
NM_000527.5(LDLR):c.2381T>A (p.Leu794His)
|
|
|
|
NM_000527.5(LDLR):c.2384C>A (p.Pro795His)
|
rs879255184
|
|
|
NM_000527.5(LDLR):c.2384_2389+2del
|
|
|
|
NM_000527.5(LDLR):c.2385del (p.Ile796fs)
|
rs879255185
|
|
|
NM_000527.5(LDLR):c.2386A>G (p.Ile796Val)
|
|
|
|
NM_000527.5(LDLR):c.2387T>G (p.Ile796Ser)
|
|
|
|
NM_000527.5(LDLR):c.2389+11G>A
|
|
|
|
NM_000527.5(LDLR):c.2389+14G>A
|
|
|
|
NM_000527.5(LDLR):c.2389+15G>C
|
|
|
|
NM_000527.5(LDLR):c.2389+18C>A
|
|
|
|
NM_000527.5(LDLR):c.2389+19C>T
|
|
|
|
NM_000527.5(LDLR):c.2389+1G>A
|
rs879255186
|
|
|
NM_000527.5(LDLR):c.2389+1G>C
|
|
|
|
NM_000527.5(LDLR):c.2389+1G>T
|
rs879255186
|
|
|
NM_000527.5(LDLR):c.2389+24_2389+33del
|
|
|
|
NM_000527.5(LDLR):c.2389+24_2389+33dup
|
rs755102689
|
|
|
NM_000527.5(LDLR):c.2389+2T>G
|
rs879255188
|
|
|
NM_000527.5(LDLR):c.2389+2_2389+5delinsGGCCCCAT
|
rs879255187
|
|
|
NM_000527.5(LDLR):c.2389+3A>C
|
rs879255189
|
|
|
NM_000527.5(LDLR):c.2389+41C>A
|
|
|
|
NM_000527.5(LDLR):c.2389+46C>T
|
|
|
|
NM_000527.5(LDLR):c.2389+47G>A
|
|
|
|
NM_000527.5(LDLR):c.2389+4A>C
|
|
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
|
NM_000527.5(LDLR):c.2389+4dup
|
rs879255190
|
|
|
NM_000527.5(LDLR):c.2389+5G>A
|
rs879255191
|
|
|
NM_000527.5(LDLR):c.2389+5G>C
|
rs879255191
|
|
|
NM_000527.5(LDLR):c.2389+5G>T
|
rs879255191
|
|
|
NM_000527.5(LDLR):c.2389+6C>T
|
|
|
|
NM_000527.5(LDLR):c.2389+7G>A
|
|
|
|
NM_000527.5(LDLR):c.2389+9G>A
|
rs768455845
|
|
|
NM_000527.5(LDLR):c.2389+9G>C
|
rs768455845
|
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
|
NM_000527.5(LDLR):c.2389G>C (p.Val797Leu)
|
rs750518671
|
|
|
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu)
|
rs750518671
|
|
|
NM_000527.5(LDLR):c.2390-10C>T
|
rs1600764877
|
|
|
NM_000527.5(LDLR):c.2390-14G>C
|
|
|
|
NM_000527.5(LDLR):c.2390-16G>T
|
|
|
|
NM_000527.5(LDLR):c.2390-17C>T
|
|
|
|
NM_000527.5(LDLR):c.2390-1G>A
|
rs879255193
|
|
|
NM_000527.5(LDLR):c.2390-1G>C
|
rs879255193
|
|
|
NM_000527.5(LDLR):c.2390-20G>A
|
|
|
|
NM_000527.5(LDLR):c.2390-2A>G
|
rs767790696
|
|
|
NM_000527.5(LDLR):c.2390-4A>G
|
rs2147286667
|
|
|
NM_000527.5(LDLR):c.2390-7C>G
|
|
|
|
NM_000527.5(LDLR):c.2390-7C>T
|
|
|
|
NM_000527.5(LDLR):c.2390-9T>C
|
|
|
|
NM_000527.5(LDLR):c.2391G>T (p.Val797=)
|
rs752846235
|
|
|
NM_000527.5(LDLR):c.2392C>T (p.Leu798Phe)
|
|
|
|
NM_000527.5(LDLR):c.2392CTC[1] (p.Leu799del)
|
rs879255195
|
|
|
NM_000527.5(LDLR):c.2392_2400del (p.Leu798_Val800del)
|
rs879255194
|
|
|
NM_000527.5(LDLR):c.2393_2409del (p.Leu798fs)
|
rs1131692225
|
|
|
NM_000527.5(LDLR):c.2394C>G (p.Leu798=)
|
rs755872240
|
|
|
NM_000527.5(LDLR):c.2394_2401del (p.Leu799fs)
|
rs1555809471
|
|
|
NM_000527.5(LDLR):c.2395dup (p.Leu799fs)
|
|
|
|
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg)
|
rs879255196
|
|
|
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.2399_2403delinsGGGT (p.Val800fs)
|
rs879255198
|
|
|
NM_000527.5(LDLR):c.2400dup (p.Phe801fs)
|
rs1600765031
|
|
|
NM_000527.5(LDLR):c.2402_2403del (p.Phe801fs)
|
rs1057519689
|
|
|
NM_000527.5(LDLR):c.2402del (p.Phe801fs)
|
rs1555809490
|
|
|
NM_000527.5(LDLR):c.2403C>T (p.Phe801=)
|
rs2147286811
|
|
|
NM_000527.5(LDLR):c.2403_2406del (p.Leu802fs)
|
rs879255200
|
|
|
NM_000527.5(LDLR):c.2406T>A (p.Leu802=)
|
|
|
|
NM_000527.5(LDLR):c.2407T>C (p.Cys803Arg)
|
rs1060499930
|
|
|
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.2408G>C (p.Cys803Ser)
|
|
|
|
NM_000527.5(LDLR):c.2408_2409dup (p.Leu804fs)
|
rs879255202
|
|
|
NM_000527.5(LDLR):c.2408_2425dup (p.Leu808_Leu809insArgLeuGlyValPheLeu)
|
|
|
|
NM_000527.5(LDLR):c.2409C>T (p.Cys803=)
|
rs2077686463
|
|
|
NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)
|
rs879254444
|
|
|
NM_000527.5(LDLR):c.2410C>A (p.Leu804Met)
|
|
|
|
NM_000527.5(LDLR):c.2410C>T (p.Leu804=)
|
|
|
|
NM_000527.5(LDLR):c.2412G>A (p.Leu804=)
|
rs2077686564
|
|
|
NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg)
|
rs879255204
|
|
|
NM_000527.5(LDLR):c.2413G>C (p.Gly805Arg)
|
rs879255204
|
|
|
NM_000527.5(LDLR):c.2414G>A (p.Gly805Glu)
|
rs2147286859
|
|
|
NM_000527.5(LDLR):c.2416G>C (p.Val806Leu)
|
|
|
|
NM_000527.5(LDLR):c.2416del (p.Val806fs)
|
rs773618064
|
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
|
NM_000527.5(LDLR):c.2417T>A (p.Val806Asp)
|
rs879255208
|
|
|
NM_000527.5(LDLR):c.2417_2418insG (p.Phe807fs)
|
rs879255207
|
|
|
NM_000527.5(LDLR):c.2417_2418insGG (p.Phe807fs)
|
rs879255207
|
|
|
NM_000527.5(LDLR):c.241C>A (p.Arg81Ser)
|
rs730882078
|
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
|
NM_000527.5(LDLR):c.2420_2426del (p.Phe807fs)
|
rs879255209
|
|
|
NM_000527.5(LDLR):c.2422C>G (p.Leu808Val)
|
rs1131692226
|
|
|
NM_000527.5(LDLR):c.2422_2425del (p.Leu808fs)
|
rs1555809520
|
|
|
NM_000527.5(LDLR):c.2425C>T (p.Leu809=)
|
rs2147286940
|
|
|
NM_000527.5(LDLR):c.2429G>A (p.Trp810Ter)
|
|
|
|
NM_000527.5(LDLR):c.242G>T (p.Arg81Leu)
|
|
|
|
NM_000527.5(LDLR):c.242dup (p.Cys82fs)
|
rs879254445
|
|
|
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter)
|
rs879255210
|
|
|
NM_000527.5(LDLR):c.2430G>C (p.Trp810Cys)
|
|
|
|
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
|
|
|
|
NM_000527.5(LDLR):c.2432A>G (p.Lys811Arg)
|
|
|
|
NM_000527.5(LDLR):c.2433G>C (p.Lys811Asn)
|
|
|
|
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter)
|
rs879255212
|
|
|
NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter)
|
rs121908032
|
|
|
NM_000527.5(LDLR):c.2440C>A (p.Arg814=)
|
rs746616623
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
|
NM_000527.5(LDLR):c.2442G>A (p.Arg814=)
|
|
|
|
NM_000527.5(LDLR):c.2442del (p.Lys816fs)
|
rs2147287002
|
|
|
NM_000527.5(LDLR):c.2444T>A (p.Leu815His)
|
rs2077687532
|
|
|
NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln)
|
rs879255213
|
|
|
NM_000527.5(LDLR):c.2446A>G (p.Lys816Glu)
|
|
|
|
NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter)
|
rs879255213
|
|
|
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs)
|
rs387906302
|
|
|
NM_000527.5(LDLR):c.2449_2453del (p.Asn817fs)
|
rs2147287052
|
|
|
NM_000527.5(LDLR):c.244T>G (p.Cys82Gly)
|
rs879254447
|
|
|
NM_000527.5(LDLR):c.244_246del (p.Cys82del)
|
rs1568591929
|
|
|
NM_000527.5(LDLR):c.244_250dup (p.Pro84fs)
|
rs1057519653
|
|
|
NM_000527.5(LDLR):c.244del (p.Cys82fs)
|
rs879254446
|
|
|
NM_000527.5(LDLR):c.2452A>G (p.Ile818Val)
|
rs2147287069
|
|
|
NM_000527.5(LDLR):c.2456A>G (p.Asn819Ser)
|
|
|
|
NM_000527.5(LDLR):c.2458_2466del (p.Ser820_Asn822del)
|
rs879255214
|
|
|
NM_000527.5(LDLR):c.2459_2460insTGATGAGGATGGACAGAGAAGGTCTCTGATAAGATTTGTTTCTTTTGCCTCTCCCCTCTCCCCTCTCCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACATCAACAG (p.Ser820_Ile821insAspGluAspGlyGlnArgArgSerLeuIleArgPheValSerPheAlaSerProLeuSerProLeuProXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysLysLysAsnIleAsnSer)
|
|
|
|
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr)
|
rs879254448
|
|
|
NM_000527.5(LDLR):c.245G>C (p.Cys82Ser)
|
|
|
|
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe)
|
rs879254448
|
|
|
NM_000527.5(LDLR):c.2462_2463insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile821_Asn822insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
rs2147287035
|
|
|
NM_000527.5(LDLR):c.2465A>G (p.Asn822Ser)
|
|
|
|
NM_000527.5(LDLR):c.2466C>T (p.Asn822=)
|
|
|
|
NM_000527.5(LDLR):c.2469_2470insTTTTTTTTTTTTTTTTTNNNNNNNNNNTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCGGCCAACAGCATCAACTTT (p.Asp824delinsPhePhePhePhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer)
|
rs2147287083
|
|
|
NM_000527.5(LDLR):c.246C>A (p.Cys82Ter)
|
rs875989891
|
|
|
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.2476C>T (p.Pro826Ser)
|
rs879255217
|
|
|
NM_000527.5(LDLR):c.2478del (p.Val827fs)
|
rs747344293
|
|
|
NM_000527.5(LDLR):c.2478dup (p.Val827fs)
|
rs747344293
|
|
|
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.2480T>A (p.Val827Asp)
|
rs2077688361
|
|
|
NM_000527.5(LDLR):c.2482T>C (p.Tyr828His)
|
rs879255218
|
|
|
NM_000527.5(LDLR):c.2482dup (p.Tyr828fs)
|
rs1057519690
|
|
|
NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser)
|
rs28942085
|
|
|
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
|
|
|
|
NM_000527.5(LDLR):c.2485C>T (p.Gln829Ter)
|
rs2077688650
|
|
|
NM_000527.5(LDLR):c.2487G>C (p.Gln829His)
|
rs2147287215
|
|
|
NM_000527.5(LDLR):c.2488A>T (p.Lys830Ter)
|
rs2147287222
|
|
|
NM_000527.5(LDLR):c.248T>C (p.Ile83Thr)
|
rs1555802745
|
|
|
NM_000527.5(LDLR):c.2490G>A (p.Lys830=)
|
|
|
|
NM_000527.5(LDLR):c.2494A>G (p.Thr832Ala)
|
|
|
|
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.249delinsGG (p.Ile83fs)
|
rs1600704961
|
|
|
NM_000527.5(LDLR):c.2500_2502delinsC (p.Asp834fs)
|
rs879255219
|
|
|
NM_000527.5(LDLR):c.2500del (p.Asp834fs)
|
rs1555809594
|
|
|
NM_000527.5(LDLR):c.2505G>A (p.Glu835=)
|
|
|
|
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.2509del (p.His837fs)
|
|
|
|
NM_000527.5(LDLR):c.250C>T (p.Pro84Ser)
|
rs879254449
|
|
|
NM_000527.5(LDLR):c.2511C>T (p.His837=)
|
|
|
|
NM_000527.5(LDLR):c.2514T>A (p.Ile838=)
|
rs2077689379
|
|
|
NM_000527.5(LDLR):c.2517C>T (p.Cys839=)
|
|
|
|
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.251_252insCATTCTG (p.Gln85fs)
|
rs1131692191
|
|
|
NM_000527.5(LDLR):c.2520C>T (p.His840=)
|
rs2077689495
|
|
|
NM_000527.5(LDLR):c.2523C>G (p.Asn841Lys)
|
|
|
|
NM_000527.5(LDLR):c.2525A>G (p.Gln842Arg)
|
|
|
|
NM_000527.5(LDLR):c.2530_2542del (p.Gly844fs)
|
rs2147287353
|
|
|
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp)
|
rs121908037
|
|
|
NM_000527.5(LDLR):c.2534A>G (p.Tyr845Cys)
|
rs1568619827
|
|
|
NM_000527.5(LDLR):c.2536_2538del (p.Ser846del)
|
|
|
|
NM_000527.5(LDLR):c.2537G>A (p.Ser846Asn)
|
|
|
|
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter)
|
rs875989893
|
|
|
NM_000527.5(LDLR):c.2540A>C (p.Tyr847Ser)
|
rs2077690044
|
|
|
NM_000527.5(LDLR):c.2541C>T (p.Tyr847=)
|
rs757997480
|
|
|
NM_000527.5(LDLR):c.2542C>T (p.Pro848Ser)
|
|
|
|
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+10C>T
|
rs2147287504
|
|
|
NM_000527.5(LDLR):c.2547+13C>T
|
|
|
|
NM_000527.5(LDLR):c.2547+15C>T
|
|
|
|
NM_000527.5(LDLR):c.2547+17A>G
|
|
|
|
NM_000527.5(LDLR):c.2547+1G>A
|
rs879255224
|
|
|
NM_000527.5(LDLR):c.2547+2T>G
|
rs2147287476
|
|
|
NM_000527.5(LDLR):c.2547+3G>C
|
rs879255225
|
|
|
NM_000527.5(LDLR):c.2547+5G>A
|
rs879255226
|
|
|
NM_000527.5(LDLR):c.2547+5G>C
|
rs879255226
|
|
|
NM_000527.5(LDLR):c.2547+8A>T
|
|
|
|
NM_000527.5(LDLR):c.2547+9C>A
|
rs746674813
|
|
|
NM_000527.5(LDLR):c.2547+9C>T
|
rs746674813
|
|
|
NM_000527.5(LDLR):c.2547G>A (p.Ser849=)
|
rs1249903899
|
|
|
NM_000527.5(LDLR):c.2548-12A>C
|
|
|
|
NM_000527.5(LDLR):c.2548-19G>A
|
|
|
|
NM_000527.5(LDLR):c.2548-23C>T
|
|
|
|
NM_000527.5(LDLR):c.2548-2A>G
|
rs879255227
|
|
|
NM_000527.5(LDLR):c.2548-7T>C
|
|
|
|
NM_000527.5(LDLR):c.2548-8G>A
|
rs1249096480
|
|
|
NM_000527.5(LDLR):c.2548-8G>C
|
rs1249096480
|
|
|
NM_000527.5(LDLR):c.2549G>A (p.Arg850Lys)
|
rs879255228
|
|
|
NM_000527.5(LDLR):c.2549_2550del
|
rs1555809910
|
|
|
NM_000527.5(LDLR):c.254A>G (p.Gln85Arg)
|
|
|
|
NM_000527.5(LDLR):c.2551_2554del (p.Gln851fs)
|
rs878854029
|
|
|
NM_000527.5(LDLR):c.2552del (p.Gln851fs)
|
rs879255229
|
|
|
NM_000527.5(LDLR):c.2557G>C (p.Val853Leu)
|
|
|
|
NM_000527.5(LDLR):c.2557del (p.Val853fs)
|
|
|
|
NM_000527.5(LDLR):c.255G>A (p.Gln85=)
|
rs879254450
|
|
|
NM_000527.5(LDLR):c.255G>T (p.Gln85His)
|
rs879254450
|
|
|
NM_000527.5(LDLR):c.255_313+198del
|
|
|
|
NM_000527.5(LDLR):c.2560A>G (p.Ser854Gly)
|
|
|
|
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.257_265del (p.Phe86_Arg88del)
|
rs879254451
|
|
|
NM_000527.5(LDLR):c.2580G>A (p.Ala860=)
|
rs1285017808
|
|
|
NM_000527.5(LDLR):c.2580G>T (p.Ala860=)
|
|
|
|
NM_000527.5(LDLR):c.2581_2582insA (p.Ter861=)
|
|
|
|
NM_000527.5(LDLR):c.2582G>A (p.Ter861=)
|
rs1317489157
|
|
|
NM_000527.5(LDLR):c.258C>T (p.Phe86=)
|
|
|
|
NM_000527.5(LDLR):c.259T>C (p.Trp87Arg)
|
rs121908025
|
|
|
NM_000527.5(LDLR):c.260G>A (p.Trp87Ter)
|
rs879254452
|
|
|
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter)
|
rs199570811
|
|
|
NM_000527.5(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer)
|
rs879254453
|
|
|
NM_000527.5(LDLR):c.262A>G (p.Arg88Gly)
|
rs200660051
|
|
|
NM_000527.5(LDLR):c.263G>A (p.Arg88Lys)
|
rs1398808477
|
|
|
NM_000527.5(LDLR):c.264G>A (p.Arg88=)
|
|
|
|
NM_000527.5(LDLR):c.264G>C (p.Arg88Ser)
|
rs879254454
|
|
|
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
|
|
|
|
NM_000527.5(LDLR):c.265T>G (p.Cys89Gly)
|
rs879254455
|
|
|
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr)
|
rs875989894
|
|
|
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp)
|
rs777640882
|
|
|
NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr)
|
rs749038326
|
|
|
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.270T>C (p.Asp90=)
|
rs372828849
|
|
|
NM_000527.5(LDLR):c.271G>A (p.Gly91Ser)
|
|
|
|
NM_000527.5(LDLR):c.272del (p.Gly91fs)
|
rs1568592055
|
|
|
NM_000527.5(LDLR):c.273C>T (p.Gly91=)
|
|
|
|
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu)
|
rs774467219
|
|
|
NM_000527.5(LDLR):c.274C>T (p.Gln92Ter)
|
rs774467219
|
|
|
NM_000527.5(LDLR):c.274del (p.Gln92fs)
|
rs2077232183
|
|
|
NM_000527.5(LDLR):c.276del (p.Val93fs)
|
|
|
|
NM_000527.5(LDLR):c.279G>A (p.Val93=)
|
|
|
|
NM_000527.5(LDLR):c.27C>T (p.Arg9=)
|
rs2077057436
|
|
|
NM_000527.5(LDLR):c.280G>C (p.Asp94His)
|
|
|
|
NM_000527.5(LDLR):c.280G>T (p.Asp94Tyr)
|
rs745776977
|
|
|
NM_000527.5(LDLR):c.281A>T (p.Asp94Val)
|
|
|
|
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>C (p.Cys95Ser)
|
|
|
|
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe)
|
rs879254457
|
|
|
NM_000527.5(LDLR):c.285C>A (p.Cys95Ter)
|
rs139400379
|
|
|
NM_000527.5(LDLR):c.285C>G (p.Cys95Trp)
|
|
|
|
NM_000527.5(LDLR):c.288C>T (p.Asp96=)
|
|
|
|
NM_000527.5(LDLR):c.28T>A (p.Trp10Arg)
|
rs879254386
|
|
|
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
|
|
|
|
NM_000527.5(LDLR):c.28_38del (p.Trp10fs)
|
rs879254385
|
|
|
NM_000527.5(LDLR):c.291C>G (p.Asn97Lys)
|
rs372845091
|
|
|
NM_000527.5(LDLR):c.292G>C (p.Gly98Arg)
|
rs750474121
|
|
|
NM_000527.5(LDLR):c.292G>T (p.Gly98Cys)
|
rs750474121
|
|
|
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.296_297del (p.Gly98_Ser99insTer)
|
rs879254458
|
|
|
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.29G>A (p.Trp10Ter)
|
rs1555800724
|
|
|
NM_000527.5(LDLR):c.2T>C (p.Met1Thr)
|
rs1555800701
|
|
|
NM_000527.5(LDLR):c.300C>A (p.Asp100Glu)
|
rs766709484
|
|
|
NM_000527.5(LDLR):c.300C>G (p.Asp100Glu)
|
rs766709484
|
|
|
NM_000527.5(LDLR):c.301G>T (p.Glu101Ter)
|
rs144172724
|
|
|
NM_000527.5(LDLR):c.301del (p.Glu101fs)
|
rs879254461
|
|
|
NM_000527.5(LDLR):c.303G>A (p.Glu101=)
|
rs1600705245
|
|
|
NM_000527.5(LDLR):c.303G>T (p.Glu101Asp)
|
|
|
|
NM_000527.5(LDLR):c.303del (p.Glu101fs)
|
rs764797225
|
|
|
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)
|
rs563390335
|
|
|
NM_000527.5(LDLR):c.305A>C (p.Gln102Pro)
|
rs879254462
|
|
|
NM_000527.5(LDLR):c.308G>T (p.Gly103Val)
|
|
|
|
NM_000527.5(LDLR):c.30G>A (p.Trp10Ter)
|
rs1568582652
|
|
|
NM_000527.5(LDLR):c.310T>C (p.Cys104Arg)
|
rs879254464
|
|
|
NM_000527.5(LDLR):c.310T>G (p.Cys104Gly)
|
rs879254464
|
|
|
NM_000527.5(LDLR):c.310_313del (p.Cys104fs)
|
rs879254463
|
|
|
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)
|
rs875989895
|
|
|
NM_000527.5(LDLR):c.311G>C (p.Cys104Ser)
|
rs875989895
|
|
|
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe)
|
rs875989895
|
|
|
NM_000527.5(LDLR):c.311_313+18del
|
rs2147217467
|
|
|
NM_000527.5(LDLR):c.312T>G (p.Cys104Trp)
|
rs879254465
|
|
|
NM_000527.5(LDLR):c.313+15G>A
|
|
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
|
NM_000527.5(LDLR):c.313+1G>T
|
rs112029328
|
|
|
NM_000527.5(LDLR):c.313+1_313+2dup
|
rs2077233623
|
|
|
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+3_313+6del
|
rs2147217534
|
|
|
NM_000527.5(LDLR):c.313+4_313+16del
|
rs1555802822
|
|
|
NM_000527.5(LDLR):c.313+5G>A
|
|
|
|
NM_000527.5(LDLR):c.313+5G>C
|
rs879254467
|
|
|
NM_000527.5(LDLR):c.313+5G>T
|
rs879254467
|
|
|
NM_000527.5(LDLR):c.313+6T>C
|
rs879254468
|
|
|
NM_000527.5(LDLR):c.313+6T>G
|
rs879254468
|
|
|
NM_000527.5(LDLR):c.313+8T>A
|
rs2077233874
|
|
|
NM_000527.5(LDLR):c.313+8T>C
|
|
|
|
NM_000527.5(LDLR):c.313_313+1del
|
rs875989896
|
|
|
NM_000527.5(LDLR):c.313_313+1delinsTC
|
|
|
|
NM_000527.5(LDLR):c.314-10A>G
|
|
|
|
NM_000527.5(LDLR):c.314-10A>T
|
|
|
|
NM_000527.5(LDLR):c.314-12C>A
|
|
|
|
NM_000527.5(LDLR):c.314-12C>G
|
|
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
|
NM_000527.5(LDLR):c.314-1G>T
|
rs879254471
|
|
|
NM_000527.5(LDLR):c.314-2A>G
|
|
|
|
NM_000527.5(LDLR):c.314-2A>T
|
rs879254470
|
|
|
NM_000527.5(LDLR):c.314-3C>A
|
|
|
|
NM_000527.5(LDLR):c.314-3C>T
|
rs879254469
|
|
|
NM_000527.5(LDLR):c.314-446_1187-386dup
|
|
|
|
NM_000527.5(LDLR):c.314-4G>T
|
|
|
|
NM_000527.5(LDLR):c.314-50_1186+50dup
|
|
|
|
NM_000527.5(LDLR):c.314-5T>C
|
rs757545965
|
|
|
NM_000527.5(LDLR):c.314-62_1186+60dup
|
|
|
|
NM_000527.5(LDLR):c.314-6C>G
|
rs2147223016
|
|
|
NM_000527.5(LDLR):c.314-6C>T
|
rs2147223016
|
|
|
NM_000527.5(LDLR):c.314-7C>T
|
|
|
|
NM_000527.5(LDLR):c.314-9T>A
|
|
|
|
NM_000527.5(LDLR):c.316_336del (p.Pro106_Asp112del)
|
rs879254472
|
|
|
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.318_336del (p.Lys107fs)
|
rs1131692192
|
|
|
NM_000527.5(LDLR):c.318del (p.Lys107fs)
|
rs875989898
|
|
|
NM_000527.5(LDLR):c.318dup (p.Lys107fs)
|
rs875989898
|
|
|
NM_000527.5(LDLR):c.31A>T (p.Thr11Ser)
|
rs1600683674
|
|
|
NM_000527.5(LDLR):c.320_332del (p.Lys107fs)
|
|
|
|
NM_000527.5(LDLR):c.320dup (p.Thr108fs)
|
rs879254475
|
|
|
NM_000527.5(LDLR):c.323C>A (p.Thr108Lys)
|
rs750126678
|
|
|
NM_000527.5(LDLR):c.323C>T (p.Thr108Met)
|
rs750126678
|
|
|
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.325T>G (p.Cys109Gly)
|
rs140807148
|
|
|
NM_000527.5(LDLR):c.325_337del (p.Cys109fs)
|
rs879254477
|
|
|
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.327C>A (p.Cys109Ter)
|
rs1057519654
|
|
|
NM_000527.5(LDLR):c.327dup (p.Ser110fs)
|
rs879254478
|
|
|
NM_000527.5(LDLR):c.330C>G (p.Ser110=)
|
rs768109825
|
|
|
NM_000527.5(LDLR):c.331C>T (p.Gln111Ter)
|
rs2147223179
|
|
|
NM_000527.5(LDLR):c.335_344del (p.Asp112fs)
|
rs879254479
|
|
|
NM_000527.5(LDLR):c.336C>A (p.Asp112Glu)
|
|
|
|
NM_000527.5(LDLR):c.336C>T (p.Asp112=)
|
rs747806084
|
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
|
NM_000527.5(LDLR):c.337dup (p.Glu113fs)
|
rs752191968
|
|
|
NM_000527.5(LDLR):c.338_353del (p.Glu113fs)
|
rs879254480
|
|
|
NM_000527.5(LDLR):c.339dup (p.Phe114fs)
|
rs879254481
|
|
|
NM_000527.5(LDLR):c.33C>G (p.Thr11=)
|
|
|
|
NM_000527.5(LDLR):c.33C>T (p.Thr11=)
|
rs748734643
|
|
|
NM_000527.5(LDLR):c.33_36dup (p.Ala13fs)
|
rs879254387
|
|
|
NM_000527.5(LDLR):c.340T>A (p.Phe114Ile)
|
rs776716507
|
|
|
NM_000527.5(LDLR):c.340_344del (p.Phe114fs)
|
rs1057516132
|
|
|
NM_000527.5(LDLR):c.345C>T (p.Arg115=)
|
rs150144164
|
|
|
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)
|
rs879254482
|
|
|
NM_000527.5(LDLR):c.347G>T (p.Cys116Phe)
|
rs879254485
|
|
|
NM_000527.5(LDLR):c.347_349del (p.Cys116_His117delinsTyr)
|
rs879254483
|
|
|
NM_000527.5(LDLR):c.347_367del (p.Cys116_Ile122del)
|
rs879254484
|
|
|
NM_000527.5(LDLR):c.348C>T (p.Cys116=)
|
|
|
|
NM_000527.5(LDLR):c.349C>T (p.His117Tyr)
|
rs879254486
|
|
|
NM_000527.5(LDLR):c.350_372dup (p.Gln125fs)
|
rs879254487
|
|
|
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn)
|
rs730882080
|
|
|
NM_000527.5(LDLR):c.353A>C (p.Asp118Ala)
|
|
|
|
NM_000527.5(LDLR):c.353del (p.Asp118fs)
|
rs879254488
|
|
|
NM_000527.5(LDLR):c.354T>C (p.Asp118=)
|
rs2077267881
|
|
|
NM_000527.5(LDLR):c.354_356del (p.Asp118_Gly119delinsGlu)
|
rs879254489
|
|
|
NM_000527.5(LDLR):c.355G>A (p.Gly119Arg)
|
rs869320648
|
|
|
NM_000527.5(LDLR):c.356_362del (p.Gly119fs)
|
rs879254490
|
|
|
NM_000527.5(LDLR):c.357del (p.Lys120fs)
|
rs879254491
|
|
|
NM_000527.5(LDLR):c.361T>A (p.Cys121Ser)
|
rs879254492
|
|
|
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg)
|
rs879254492
|
|
|
NM_000527.5(LDLR):c.361T>G (p.Cys121Gly)
|
rs879254492
|
|
|
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)
|
rs193922571
|
|
|
NM_000527.5(LDLR):c.362G>C (p.Cys121Ser)
|
rs193922571
|
|
|
NM_000527.5(LDLR):c.362G>T (p.Cys121Phe)
|
rs193922571
|
|
|
NM_000527.5(LDLR):c.362_376del (p.Cys121_Gln125del)
|
rs1555803186
|
|
|
NM_000527.5(LDLR):c.363C>G (p.Cys121Trp)
|
rs1555803191
|
|
|
NM_000527.5(LDLR):c.363C>T (p.Cys121=)
|
rs1555803191
|
|
|
NM_000527.5(LDLR):c.364A>C (p.Ile122Leu)
|
|
|
|
NM_000527.5(LDLR):c.364A>T (p.Ile122Phe)
|
rs879254493
|
|
|
NM_000527.5(LDLR):c.366dup (p.Ser123fs)
|
rs879254494
|
|
|
NM_000527.5(LDLR):c.367T>A (p.Ser123Thr)
|
rs879254495
|
|
|
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)
|
rs879254495
|
|
|
NM_000527.5(LDLR):c.368C>G (p.Ser123Cys)
|
rs2077268470
|
|
|
NM_000527.5(LDLR):c.369_370del (p.Arg124fs)
|
rs879254496
|
|
|
NM_000527.5(LDLR):c.369_393del (p.Arg124fs)
|
rs879254497
|
|
|
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.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal)
|
rs2077268697
|
|
|
NM_000527.5(LDLR):c.370dup (p.Arg124fs)
|
rs1057516133
|
|
|
NM_000527.5(LDLR):c.371G>C (p.Arg124Pro)
|
rs929536329
|
|
|
NM_000527.5(LDLR):c.371_372insC (p.Gln125fs)
|
rs879254499
|
|
|
NM_000527.5(LDLR):c.373C>A (p.Gln125Lys)
|
rs875989899
|
|
|
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter)
|
rs875989899
|
|
|
NM_000527.5(LDLR):c.373_379del (p.Gln125fs)
|
rs2147223487
|
|
|
NM_000527.5(LDLR):c.373_383delinsAAGTGCA (p.Gln125fs)
|
|
|
|
NM_000527.5(LDLR):c.374_375insCTGA (p.Gln125delinsHisTer)
|
rs879254500
|
|
|
NM_000527.5(LDLR):c.375G>A (p.Gln125=)
|
rs2147223505
|
|
|
NM_000527.5(LDLR):c.375G>C (p.Gln125His)
|
|
|
|
NM_000527.5(LDLR):c.376T>C (p.Phe126Leu)
|
rs879254501
|
|
|
NM_000527.5(LDLR):c.377T>A (p.Phe126Tyr)
|
rs879254502
|
|
|
NM_000527.5(LDLR):c.377T>C (p.Phe126Ser)
|
rs879254502
|
|
|
NM_000527.5(LDLR):c.378C>A (p.Phe126Leu)
|
rs762139262
|
|
|
NM_000527.5(LDLR):c.378del (p.Phe126fs)
|
rs1555803213
|
|
|
NM_000527.5(LDLR):c.379del (p.Val127fs)
|
rs878854028
|
|
|
NM_000527.5(LDLR):c.380T>A (p.Val127Asp)
|
rs879254503
|
|
|
NM_000527.5(LDLR):c.380T>C (p.Val127Ala)
|
|
|
|
NM_000527.5(LDLR):c.380T>G (p.Val127Gly)
|
rs879254503
|
|
|
NM_000527.5(LDLR):c.381C>T (p.Val127=)
|
|
|
|
NM_000527.5(LDLR):c.382T>C (p.Cys128Arg)
|
rs879254505
|
|
|
NM_000527.5(LDLR):c.382T>G (p.Cys128Gly)
|
rs879254505
|
|
|
NM_000527.5(LDLR):c.382_385del (p.Cys128fs)
|
rs879254504
|
|
|
NM_000527.5(LDLR):c.383G>A (p.Cys128Tyr)
|
rs879254506
|
|
|
NM_000527.5(LDLR):c.383G>C (p.Cys128Ser)
|
rs879254506
|
|
|
NM_000527.5(LDLR):c.383G>T (p.Cys128Phe)
|
rs879254506
|
|
|
NM_000527.5(LDLR):c.385G>A (p.Asp129Asn)
|
rs2077269298
|
|
|
NM_000527.5(LDLR):c.386A>C (p.Asp129Ala)
|
|
|
|
NM_000527.5(LDLR):c.386A>G (p.Asp129Gly)
|
rs879254507
|
|
|
NM_000527.5(LDLR):c.387C>G (p.Asp129Glu)
|
|
|
|
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.389C>G (p.Ser130Ter)
|
rs879254509
|
|
|
NM_000527.5(LDLR):c.389dup (p.Asp131fs)
|
rs879254510
|
|
|
NM_000527.5(LDLR):c.391G>C (p.Asp131His)
|
rs879254511
|
|
|
NM_000527.5(LDLR):c.394C>A (p.Arg132=)
|
|
|
|
NM_000527.5(LDLR):c.394C>G (p.Arg132Gly)
|
rs368978979
|
|
|
NM_000527.5(LDLR):c.394C>T (p.Arg132Trp)
|
rs368978979
|
|
|
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.397G>C (p.Asp133His)
|
|
|
|
NM_000527.5(LDLR):c.397G>T (p.Asp133Tyr)
|
|
|
|
NM_000527.5(LDLR):c.397dup (p.Asp133fs)
|
rs879254512
|
|
|
NM_000527.5(LDLR):c.399C>T (p.Asp133=)
|
rs2077269856
|
|
|
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.400T>G (p.Cys134Gly)
|
rs875989900
|
|
|
NM_000527.5(LDLR):c.400_408dup (p.Asp136_Gly137insCysLeuAsp)
|
|
|
|
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr)
|
rs879254514
|
|
|
NM_000527.5(LDLR):c.401G>C (p.Cys134Ser)
|
rs879254514
|
|
|
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)
|
rs879254514
|
|
|
NM_000527.5(LDLR):c.402C>G (p.Cys134Trp)
|
rs879254515
|
|
|
NM_000527.5(LDLR):c.402C>T (p.Cys134=)
|
rs879254515
|
|
|
NM_000527.5(LDLR):c.403T>C (p.Leu135=)
|
|
|
|
NM_000527.5(LDLR):c.406G>A (p.Asp136Asn)
|
rs2077270167
|
|
|
NM_000527.5(LDLR):c.407A>T (p.Asp136Val)
|
rs879254516
|
|
|
NM_000527.5(LDLR):c.409G>T (p.Gly137Cys)
|
rs730882082
|
|
|
NM_000527.5(LDLR):c.413C>A (p.Ser138Ter)
|
rs755799528
|
|
|
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)
|
|
|
|
NM_000527.5(LDLR):c.415G>C (p.Asp139His)
|
rs879254517
|
|
|
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>A (p.Asp139Glu)
|
rs537484504
|
|
|
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.41T>A (p.Leu14Ter)
|
rs1600683731
|
|
|
NM_000527.5(LDLR):c.41del (p.Leu14fs)
|
rs879254388
|
|
|
NM_000527.5(LDLR):c.41dup (p.Leu14fs)
|
rs879254388
|
|
|
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.421G>A (p.Ala141Thr)
|
|
|
|
NM_000527.5(LDLR):c.424_430del (p.Ser142fs)
|
rs879254521
|
|
|
NM_000527.5(LDLR):c.425C>T (p.Ser142Phe)
|
|
|
|
NM_000527.5(LDLR):c.426C>A (p.Ser142=)
|
rs1555803245
|
|
|
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>G (p.Pro144Arg)
|
|
|
|
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu)
|
rs912448894
|
|
|
NM_000527.5(LDLR):c.431_434dup (p.Leu146fs)
|
rs879254523
|
|
|
NM_000527.5(LDLR):c.432G>C (p.Pro144=)
|
rs769228052
|
|
|
NM_000527.5(LDLR):c.432G>T (p.Pro144=)
|
|
|
|
NM_000527.5(LDLR):c.433dup (p.Val145fs)
|
rs2077271255
|
|
|
NM_000527.5(LDLR):c.438C>T (p.Leu146=)
|
|
|
|
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)
|
rs879254524
|
|
|
NM_000527.5(LDLR):c.440_450dup (p.Ala151fs)
|
rs1555803254
|
|
|
NM_000527.5(LDLR):c.441C>T (p.Thr147=)
|
rs2147223916
|
|
|
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg)
|
rs879254525
|
|
|
NM_000527.5(LDLR):c.442_504del (p.Cys148_Asp168del)
|
rs1555803257
|
|
|
NM_000527.5(LDLR):c.442_504delinsA (p.Cys148fs)
|
rs1555803259
|
|
|
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.444T>G (p.Cys148Trp)
|
rs879254528
|
|
|
NM_000527.5(LDLR):c.445G>C (p.Gly149Arg)
|
rs879254529
|
|
|
NM_000527.5(LDLR):c.445G>T (p.Gly149Cys)
|
rs879254529
|
|
|
NM_000527.5(LDLR):c.449C>A (p.Pro150His)
|
|
|
|
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.44T>G (p.Leu15Arg)
|
rs879254390
|
|
|
NM_000527.5(LDLR):c.450dup (p.Ala151fs)
|
rs879254530
|
|
|
NM_000527.5(LDLR):c.451G>A (p.Ala151Thr)
|
rs763233960
|
|
|
NM_000527.5(LDLR):c.451G>T (p.Ala151Ser)
|
|
|
|
NM_000527.5(LDLR):c.451_453del (p.Ala151del)
|
rs879254531
|
|
|
NM_000527.5(LDLR):c.457T>G (p.Phe153Val)
|
rs879254532
|
|
|
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.462G>A (p.Gln154=)
|
rs2077272207
|
|
|
NM_000527.5(LDLR):c.462G>C (p.Gln154His)
|
rs2077272207
|
|
|
NM_000527.5(LDLR):c.463T>A (p.Cys155Ser)
|
rs879254535
|
|
|
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.465C>A (p.Cys155Ter)
|
rs766094434
|
|
|
NM_000527.5(LDLR):c.466_471del (p.Asn156_Ser157del)
|
|
|
|
NM_000527.5(LDLR):c.466_484dup (p.Pro162fs)
|
rs879254537
|
|
|
NM_000527.5(LDLR):c.467del (p.Asn156fs)
|
rs1057516135
|
|
|
NM_000527.5(LDLR):c.469_470dup (p.Ser157fs)
|
rs2077272442
|
|
|
NM_000527.5(LDLR):c.46C>G (p.Leu16Val)
|
rs2077058105
|
|
|
NM_000527.5(LDLR):c.470G>A (p.Ser157Asn)
|
rs1555803280
|
|
|
NM_000527.5(LDLR):c.472del (p.Ser158fs)
|
rs879254538
|
|
|
NM_000527.5(LDLR):c.473C>G (p.Ser158Cys)
|
rs763998635
|
|
|
NM_000527.5(LDLR):c.474C>T (p.Ser158=)
|
rs2147224085
|
|
|
NM_000527.5(LDLR):c.476C>T (p.Thr159Ile)
|
rs879254539
|
|
|
NM_000527.5(LDLR):c.477C>A (p.Thr159=)
|
|
|
|
NM_000527.5(LDLR):c.477C>G (p.Thr159=)
|
|
|
|
NM_000527.5(LDLR):c.477C>T (p.Thr159=)
|
|
|
|
NM_000527.5(LDLR):c.478T>A (p.Cys160Ser)
|
rs879254540
|
|
|
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg)
|
rs879254540
|
|
|
NM_000527.5(LDLR):c.478T>G (p.Cys160Gly)
|
rs879254540
|
|
|
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
|
|
|
|
NM_000527.5(LDLR):c.479G>T (p.Cys160Phe)
|
rs879254541
|
|
|
NM_000527.5(LDLR):c.479_480delinsTT (p.Cys160Phe)
|
rs1135402767
|
|
|
NM_000527.5(LDLR):c.47T>C (p.Leu16Pro)
|
rs879254391
|
|
|
NM_000527.5(LDLR):c.47T>G (p.Leu16Arg)
|
|
|
|
NM_000527.5(LDLR):c.480_492del (p.Ile161fs)
|
|
|
|
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn)
|
rs754933794
|
|
|
NM_000527.5(LDLR):c.482T>C (p.Ile161Thr)
|
rs754933794
|
|
|
NM_000527.5(LDLR):c.482_488del (p.Ile161fs)
|
rs879254542
|
|
|
NM_000527.5(LDLR):c.483C>A (p.Ile161=)
|
rs942136566
|
|
|
NM_000527.5(LDLR):c.483C>T (p.Ile161=)
|
|
|
|
NM_000527.5(LDLR):c.485C>T (p.Pro162Leu)
|
rs879254543
|
|
|
NM_000527.5(LDLR):c.487C>T (p.Gln163Ter)
|
|
|
|
NM_000527.5(LDLR):c.487del (p.Gln163fs)
|
|
|
|
NM_000527.5(LDLR):c.487dup (p.Gln163fs)
|
|
|
|
NM_000527.5(LDLR):c.48C>T (p.Leu16=)
|
|
|
|
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)
|
rs879254544
|
|
|
NM_000527.5(LDLR):c.493T>G (p.Trp165Gly)
|
rs879254545
|
|
|
NM_000527.5(LDLR):c.494G>A (p.Trp165Ter)
|
|
|
|
NM_000527.5(LDLR):c.494G>T (p.Trp165Leu)
|
|
|
|
NM_000527.5(LDLR):c.495G>A (p.Trp165Ter)
|
rs879254546
|
|
|
NM_000527.5(LDLR):c.496G>A (p.Ala166Thr)
|
rs2077273342
|
|
|
NM_000527.5(LDLR):c.496G>C (p.Ala166Pro)
|
|
|
|
NM_000527.5(LDLR):c.497C>A (p.Ala166Asp)
|
|
|
|
NM_000527.5(LDLR):c.497C>T (p.Ala166Val)
|
|
|
|
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg)
|
rs879254547
|
|
|
NM_000527.5(LDLR):c.49G>A (p.Ala17Thr)
|
|
|
|
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.500G>C (p.Cys167Ser)
|
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.503A>C (p.Asp168Ala)
|
|
|
|
NM_000527.5(LDLR):c.503A>G (p.Asp168Gly)
|
rs879254549
|
|
|
NM_000527.5(LDLR):c.504C>T (p.Asp168=)
|
rs777321035
|
|
|
NM_000527.5(LDLR):c.505_511del (p.Asn169fs)
|
rs1568594903
|
|
|
NM_000527.5(LDLR):c.506A>T (p.Asn169Ile)
|
rs879254550
|
|
|
NM_000527.5(LDLR):c.508_509insC (p.Asp170fs)
|
rs879254551
|
|
|
NM_000527.5(LDLR):c.509A>G (p.Asp170Gly)
|
|
|
|
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu)
|
rs1060499931
|
|
|
NM_000527.5(LDLR):c.510C>G (p.Asp170Glu)
|
|
|
|
NM_000527.5(LDLR):c.511C>A (p.Pro171Thr)
|
|
|
|
NM_000527.5(LDLR):c.512C>T (p.Pro171Leu)
|
|
|
|
NM_000527.5(LDLR):c.513C>A (p.Pro171=)
|
|
|
|
NM_000527.5(LDLR):c.513del (p.Asp172fs)
|
rs879254552
|
|
|
NM_000527.5(LDLR):c.513dup (p.Asp172fs)
|
rs879254552
|
|
|
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.515A>G (p.Asp172Gly)
|
rs879254555
|
|
|
NM_000527.5(LDLR):c.515_516delinsTT (p.Asp172Val)
|
|
|
|
NM_000527.5(LDLR):c.516C>G (p.Asp172Glu)
|
rs879254557
|
|
|
NM_000527.5(LDLR):c.516_524dup (p.Cys173_Asp175dup)
|
rs879254556
|
|
|
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)
|
rs879254558
|
|
|
NM_000527.5(LDLR):c.517T>G (p.Cys173Gly)
|
rs879254558
|
|
|
NM_000527.5(LDLR):c.518G>A (p.Cys173Tyr)
|
rs879254560
|
|
|
NM_000527.5(LDLR):c.518G>C (p.Cys173Ser)
|
rs879254560
|
|
|
NM_000527.5(LDLR):c.518del (p.Cys173fs)
|
rs879254559
|
|
|
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.519C>T (p.Cys173=)
|
rs769318035
|
|
|
NM_000527.5(LDLR):c.519_532del (p.Cys173_Asp178delinsTer)
|
rs1131692193
|
|
|
NM_000527.5(LDLR):c.51C>T (p.Ala17=)
|
rs2077058281
|
|
|
NM_000527.5(LDLR):c.51del (p.Ala18fs)
|
|
|
|
NM_000527.5(LDLR):c.520G>T (p.Glu174Ter)
|
rs777326720
|
|
|
NM_000527.5(LDLR):c.523G>T (p.Asp175Tyr)
|
rs121908033
|
|
|
NM_000527.5(LDLR):c.524A>G (p.Asp175Gly)
|
|
|
|
NM_000527.5(LDLR):c.525T>C (p.Asp175=)
|
|
|
|
NM_000527.5(LDLR):c.525_536del (p.Asp175_Asp178del)
|
rs879254561
|
|
|
NM_000527.5(LDLR):c.526_533dup (p.Asp178fs)
|
rs879254562
|
|
|
NM_000527.5(LDLR):c.527G>T (p.Gly176Val)
|
rs879254563
|
|
|
NM_000527.5(LDLR):c.528C>T (p.Gly176=)
|
rs1131692194
|
|
|
NM_000527.5(LDLR):c.529T>C (p.Ser177Pro)
|
rs1060499919
|
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
|
NM_000527.5(LDLR):c.532G>A (p.Asp178Asn)
|
rs879254565
|
|
|
NM_000527.5(LDLR):c.532G>C (p.Asp178His)
|
rs879254565
|
|
|
NM_000527.5(LDLR):c.532G>T (p.Asp178Tyr)
|
rs879254565
|
|
|
NM_000527.5(LDLR):c.532_533insT (p.Asp178fs)
|
rs879254564
|
|
|
NM_000527.5(LDLR):c.532del (p.Asp178fs)
|
rs1555803327
|
|
|
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.535G>A (p.Glu179Lys)
|
rs879254567
|
|
|
NM_000527.5(LDLR):c.535G>T (p.Glu179Ter)
|
rs879254567
|
|
|
NM_000527.5(LDLR):c.535_536delinsAT (p.Glu179Met)
|
|
|
|
NM_000527.5(LDLR):c.535_536insGCTCGGAG (p.Glu179fs)
|
rs1555803337
|
|
|
NM_000527.5(LDLR):c.536A>C (p.Glu179Ala)
|
|
|
|
NM_000527.5(LDLR):c.536A>G (p.Glu179Gly)
|
rs879254568
|
|
|
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter)
|
rs879254569
|
|
|
NM_000527.5(LDLR):c.53C>A (p.Ala18Glu)
|
|
|
|
NM_000527.5(LDLR):c.53C>T (p.Ala18Val)
|
rs1057519651
|
|
|
NM_000527.5(LDLR):c.541_542delinsTA (p.Pro181Ter)
|
|
|
|
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.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.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.551G>T (p.Cys184Phe)
|
|
|
|
NM_000527.5(LDLR):c.552T>C (p.Cys184=)
|
|
|
|
NM_000527.5(LDLR):c.552T>G (p.Cys184Trp)
|
rs879254571
|
|
|
NM_000527.5(LDLR):c.553A>T (p.Arg185Trp)
|
rs2147224605
|
|
|
NM_000527.5(LDLR):c.555G>A (p.Arg185=)
|
rs1277068624
|
|
|
NM_000527.5(LDLR):c.557del (p.Gly186fs)
|
rs879254573
|
|
|
NM_000527.5(LDLR):c.557dup (p.Leu187fs)
|
rs879254573
|
|
|
NM_000527.5(LDLR):c.558T>C (p.Gly186=)
|
|
|
|
NM_000527.5(LDLR):c.558_559insG (p.Leu187fs)
|
rs879254574
|
|
|
NM_000527.5(LDLR):c.560_570del (p.Leu187fs)
|
rs2077275747
|
|
|
NM_000527.5(LDLR):c.561_562del (p.Tyr188fs)
|
rs879254575
|
|
|
NM_000527.5(LDLR):c.562T>G (p.Tyr188Asp)
|
|
|
|
NM_000527.5(LDLR):c.562del (p.Tyr188fs)
|
rs879254575
|
|
|
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter)
|
rs121908034
|
|
|
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)
|
rs121908034
|
|
|
NM_000527.5(LDLR):c.565G>A (p.Val189Met)
|
rs370820135
|
|
|
NM_000527.5(LDLR):c.565_568delinsTG (p.Val189fs)
|
rs1131692195
|
|
|
NM_000527.5(LDLR):c.565del (p.Val189fs)
|
rs1555803354
|
|
|
NM_000527.5(LDLR):c.567G>C (p.Val189=)
|
rs753329861
|
|
|
NM_000527.5(LDLR):c.567G>T (p.Val189=)
|
rs753329861
|
|
|
NM_000527.5(LDLR):c.568_590del (p.Phe190fs)
|
rs879254577
|
|
|
NM_000527.5(LDLR):c.56C>A (p.Ala19Glu)
|
rs879254392
|
|
|
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.570C>T (p.Phe190=)
|
rs146332179
|
|
|
NM_000527.5(LDLR):c.571C>T (p.Gln191Ter)
|
|
|
|
NM_000527.5(LDLR):c.574G>C (p.Gly192Arg)
|
rs2077276377
|
|
|
NM_000527.5(LDLR):c.576G>C (p.Gly192=)
|
|
|
|
NM_000527.5(LDLR):c.577G>T (p.Asp193Tyr)
|
|
|
|
NM_000527.5(LDLR):c.577dup (p.Asp193fs)
|
rs2077276411
|
|
|
NM_000527.5(LDLR):c.578_584del (p.Asp193fs)
|
rs879254579
|
|
|
NM_000527.5(LDLR):c.578del (p.Asp193fs)
|
rs879254580
|
|
|
NM_000527.5(LDLR):c.579del (p.Asp193fs)
|
rs2077276612
|
|
|
NM_000527.5(LDLR):c.580A>G (p.Ser194Gly)
|
rs373488885
|
|
|
NM_000527.5(LDLR):c.580A>T (p.Ser194Cys)
|
|
|
|
NM_000527.5(LDLR):c.581_582insA (p.Ser194fs)
|
rs879254581
|
|
|
NM_000527.5(LDLR):c.581_583delinsCTGCTCG (p.Ser194fs)
|
|
|
|
NM_000527.5(LDLR):c.583_589del (p.Ser195fs)
|
rs879254582
|
|
|
NM_000527.5(LDLR):c.585C>A (p.Ser195Arg)
|
rs756880555
|
|
|
NM_000527.5(LDLR):c.585C>G (p.Ser195Arg)
|
|
|
|
NM_000527.5(LDLR):c.586C>A (p.Pro196Thr)
|
rs1013147010
|
|
|
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>A (p.Cys197Ter)
|
rs879254584
|
|
|
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp)
|
rs879254584
|
|
|
NM_000527.5(LDLR):c.593C>A (p.Ser198Ter)
|
rs748672083
|
|
|
NM_000527.5(LDLR):c.593C>G (p.Ser198Trp)
|
|
|
|
NM_000527.5(LDLR):c.593C>T (p.Ser198Leu)
|
rs748672083
|
|
|
NM_000527.5(LDLR):c.594G>A (p.Ser198=)
|
rs777740535
|
|
|
NM_000527.5(LDLR):c.594G>C (p.Ser198=)
|
rs777740535
|
|
|
NM_000527.5(LDLR):c.597C>T (p.Ala199=)
|
rs749351012
|
|
|
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.600C>A (p.Phe200Leu)
|
rs879254587
|
|
|
NM_000527.5(LDLR):c.600C>T (p.Phe200=)
|
|
|
|
NM_000527.5(LDLR):c.600del (p.Phe200fs)
|
rs879254588
|
|
|
NM_000527.5(LDLR):c.600dup (p.Glu201fs)
|
|
|
|
NM_000527.5(LDLR):c.601G>A (p.Glu201Lys)
|
rs879254589
|
|
|
NM_000527.5(LDLR):c.601G>C (p.Glu201Gln)
|
|
|
|
NM_000527.5(LDLR):c.602A>C (p.Glu201Ala)
|
|
|
|
NM_000527.5(LDLR):c.603G>A (p.Glu201=)
|
|
|
|
NM_000527.5(LDLR):c.605T>C (p.Phe202Ser)
|
rs879254590
|
|
|
NM_000527.5(LDLR):c.605T>G (p.Phe202Cys)
|
rs879254590
|
|
|
NM_000527.5(LDLR):c.607del (p.His203fs)
|
rs2147224952
|
|
|
NM_000527.5(LDLR):c.609del (p.Cys204fs)
|
rs879254591
|
|
|
NM_000527.5(LDLR):c.610T>C (p.Cys204Arg)
|
rs1057519655
|
|
|
NM_000527.5(LDLR):c.610T>G (p.Cys204Gly)
|
rs1057519655
|
|
|
NM_000527.5(LDLR):c.611G>A (p.Cys204Tyr)
|
rs879254592
|
|
|
NM_000527.5(LDLR):c.611G>C (p.Cys204Ser)
|
rs879254592
|
|
|
NM_000527.5(LDLR):c.611G>T (p.Cys204Phe)
|
rs879254592
|
|
|
NM_000527.5(LDLR):c.612C>A (p.Cys204Ter)
|
rs1555803383
|
|
|
NM_000527.5(LDLR):c.613C>G (p.Leu205Val)
|
rs1131692196
|
|
|
NM_000527.5(LDLR):c.616A>C (p.Ser206Arg)
|
rs2077277985
|
|
|
NM_000527.5(LDLR):c.616dup (p.Ser206fs)
|
rs879254593
|
|
|
NM_000527.5(LDLR):c.617del (p.Ser206fs)
|
rs879254594
|
|
|
NM_000527.5(LDLR):c.618T>A (p.Ser206Arg)
|
rs879254595
|
|
|
NM_000527.5(LDLR):c.618T>G (p.Ser206Arg)
|
rs879254595
|
|
|
NM_000527.5(LDLR):c.618_638del (p.Gly207_Ser213del)
|
rs886039830
|
|
|
NM_000527.5(LDLR):c.619G>T (p.Gly207Cys)
|
rs2147225060
|
|
|
NM_000527.5(LDLR):c.619_639del (p.Gly207_Ser213del)
|
rs879254596
|
|
|
NM_000527.5(LDLR):c.620_626del (p.Gly207fs)
|
rs2147225024
|
|
|
NM_000527.5(LDLR):c.621C>A (p.Gly207=)
|
rs121908044
|
|
|
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.623_644del (p.Glu208fs)
|
rs879254598
|
|
|
NM_000527.5(LDLR):c.625_626dup (p.Ile210fs)
|
rs879254599
|
|
|
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)
|
rs879254600
|
|
|
NM_000527.5(LDLR):c.626G>T (p.Cys209Phe)
|
|
|
|
NM_000527.5(LDLR):c.627C>T (p.Cys209=)
|
rs2147225118
|
|
|
NM_000527.5(LDLR):c.628A>C (p.Ile210Leu)
|
rs1555803391
|
|
|
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn)
|
rs879254601
|
|
|
NM_000527.5(LDLR):c.629T>C (p.Ile210Thr)
|
rs879254601
|
|
|
NM_000527.5(LDLR):c.630C>T (p.Ile210=)
|
rs1600711081
|
|
|
NM_000527.5(LDLR):c.631C>G (p.His211Asp)
|
rs771917370
|
|
|
NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro)
|
rs879254602
|
|
|
NM_000527.5(LDLR):c.633C>T (p.His211=)
|
rs2147225166
|
|
|
NM_000527.5(LDLR):c.635C>G (p.Ser212Cys)
|
|
|
|
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.63T>G (p.Thr21=)
|
|
|
|
NM_000527.5(LDLR):c.640T>C (p.Trp214Arg)
|
rs1600711159
|
|
|
NM_000527.5(LDLR):c.641G>A (p.Trp214Ter)
|
rs879254605
|
|
|
NM_000527.5(LDLR):c.641G>C (p.Trp214Ser)
|
rs879254605
|
|
|
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter)
|
rs879254606
|
|
|
NM_000527.5(LDLR):c.643C>A (p.Arg215Ser)
|
rs764042910
|
|
|
NM_000527.5(LDLR):c.643_644insATCCACTCAGCTGGC (p.Trp214_Arg215insHisProLeuSerTrp)
|
rs879254607
|
|
|
NM_000527.5(LDLR):c.645C>T (p.Arg215=)
|
|
|
|
NM_000527.5(LDLR):c.645_646del (p.Arg215_Cys216insTer)
|
rs879254608
|
|
|
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg)
|
rs879254610
|
|
|
NM_000527.5(LDLR):c.646del (p.Cys216fs)
|
rs879254609
|
|
|
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr)
|
rs879254611
|
|
|
NM_000527.5(LDLR):c.647G>T (p.Cys216Phe)
|
rs879254611
|
|
|
NM_000527.5(LDLR):c.648_649del (p.Cys216_Asp217delinsTer)
|
rs879254612
|
|
|
NM_000527.5(LDLR):c.648_656del (p.Asp217_Gly219del)
|
rs879254613
|
|
|
NM_000527.5(LDLR):c.648dup (p.Asp217Ter)
|
rs875989903
|
|
|
NM_000527.5(LDLR):c.649_650insT (p.Asp217fs)
|
rs879254614
|
|
|
NM_000527.5(LDLR):c.64_65insTCG (p.Thr21_Ala22insVal)
|
|
|
|
NM_000527.5(LDLR):c.64del (p.Ala22fs)
|
rs879254393
|
|
|
NM_000527.5(LDLR):c.650A>G (p.Asp217Gly)
|
rs2077279531
|
|
|
NM_000527.5(LDLR):c.650A>T (p.Asp217Val)
|
rs2077279531
|
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
|
NM_000527.5(LDLR):c.651_687del (p.Asp217fs)
|
rs879254615
|
|
|
NM_000527.5(LDLR):c.653G>C (p.Gly218Ala)
|
|
|
|
NM_000527.5(LDLR):c.653del (p.Gly218fs)
|
rs137853966
|
|
|
NM_000527.5(LDLR):c.655G>T (p.Gly219Cys)
|
|
|
|
NM_000527.5(LDLR):c.655_657del (p.Gly219del)
|
rs879254616
|
|
|
NM_000527.5(LDLR):c.656_661del (p.Gly219_Pro220del)
|
rs879254617
|
|
|
NM_000527.5(LDLR):c.657C>G (p.Gly219=)
|
|
|
|
NM_000527.5(LDLR):c.657C>T (p.Gly219=)
|
rs1031127300
|
|
|
NM_000527.5(LDLR):c.657_661dup (p.Asp221fs)
|
rs879254358
|
|
|
NM_000527.5(LDLR):c.658C>T (p.Pro220Ser)
|
rs2077280086
|
|
|
NM_000527.5(LDLR):c.658_659delinsTGTGATGG (p.Pro220delinsCysAspGly)
|
|
|
|
NM_000527.5(LDLR):c.658_663del (p.Pro220_Asp221del)
|
rs1555803409
|
|
|
NM_000527.5(LDLR):c.660_661insTG (p.Asp221fs)
|
rs869320649
|
|
|
NM_000527.5(LDLR):c.660_666dup (p.Lys223fs)
|
rs1057519657
|
|
|
NM_000527.5(LDLR):c.660del (p.Asp221fs)
|
rs875989905
|
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
|
|
NM_000527.5(LDLR):c.661G>C (p.Asp221His)
|
|
|
|
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)
|
rs875989906
|
|
|
NM_000527.5(LDLR):c.661_673dup (p.Lys225fs)
|
rs1555803428
|
|
|
NM_000527.5(LDLR):c.661_677del (p.Pro220_Asp221insTer)
|
rs879254619
|
|
|
NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs)
|
rs2077280444
|
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
|
NM_000527.5(LDLR):c.662A>T (p.Asp221Val)
|
rs373822756
|
|
|
NM_000527.5(LDLR):c.662_681dup (p.Glu228fs)
|
rs1555803432
|
|
|
NM_000527.5(LDLR):c.663C>G (p.Asp221Glu)
|
rs2077280675
|
|
|
NM_000527.5(LDLR):c.663C>T (p.Asp221=)
|
|
|
|
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup)
|
rs879254620
|
|
|
NM_000527.5(LDLR):c.664T>G (p.Cys222Gly)
|
rs577934998
|
|
|
NM_000527.5(LDLR):c.664_672del (p.Cys222_Asp224del)
|
|
|
|
NM_000527.5(LDLR):c.664_681del (p.Cys222_Asp227del)
|
rs387906306
|
|
|
NM_000527.5(LDLR):c.664_681delinsCCGACTG (p.Cys222fs)
|
rs879254622
|
|
|
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr)
|
rs730882086
|
|
|
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe)
|
rs730882086
|
|
|
NM_000527.5(LDLR):c.665_673dup (p.Asp224_Lys225insSerLysAsp)
|
rs2147225506
|
|
|
NM_000527.5(LDLR):c.666C>A (p.Cys222Ter)
|
rs756613387
|
|
|
NM_000527.5(LDLR):c.666C>G (p.Cys222Trp)
|
rs756613387
|
|
|
NM_000527.5(LDLR):c.666C>T (p.Cys222=)
|
rs756613387
|
|
|
NM_000527.5(LDLR):c.666_679del (p.Cys222_Asp227delinsTer)
|
|
|
|
NM_000527.5(LDLR):c.666_682dup (p.Glu228fs)
|
rs1057519662
|
|
|
NM_000527.5(LDLR):c.666_687del (p.Asp221_Cys222insTer)
|
rs879254623
|
|
|
NM_000527.5(LDLR):c.666_688del (p.Cys222_Asn230delinsTer)
|
rs1131692197
|
|
|
NM_000527.5(LDLR):c.667_677del (p.Cys222_Lys223insTer)
|
|
|
|
NM_000527.5(LDLR):c.667_693del (p.Lys223_Cys231del)
|
rs879254624
|
|
|
NM_000527.5(LDLR):c.668_681dup (p.Glu228fs)
|
rs1555803424
|
|
|
NM_000527.5(LDLR):c.669G>A (p.Lys223=)
|
|
|
|
NM_000527.5(LDLR):c.669G>C (p.Lys223Asn)
|
rs879254627
|
|
|
NM_000527.5(LDLR):c.669_676del (p.Lys223fs)
|
rs1555803449
|
|
|
NM_000527.5(LDLR):c.669_679dup (p.Asp227fs)
|
rs879254625
|
|
|
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer)
|
rs879254626
|
|
|
NM_000527.5(LDLR):c.669_683delinsAACTGCGGTAAACTGCGGTAAACT (p.Asp224_Glu228delinsThrAlaValAsnCysGlyLysLeu)
|
rs1131692198
|
|
|
NM_000527.5(LDLR):c.67+13C>T
|
|
|
|
NM_000527.5(LDLR):c.67+16G>C
|
|
|
|
NM_000527.5(LDLR):c.67+18C>T
|
|
|
|
NM_000527.5(LDLR):c.67+1G>A
|
|
|
|
NM_000527.5(LDLR):c.67+1G>T
|
rs762417023
|
|
|
NM_000527.5(LDLR):c.67+1dup
|
rs2147186763
|
|
|
NM_000527.5(LDLR):c.67+20C>G
|
|
|
|
NM_000527.5(LDLR):c.67+2T>A
|
rs879254394
|
|
|
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.67+833T>C
|
rs57217136
|
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
|
NM_000527.5(LDLR):c.670_672del (p.Asp224del)
|
|
|
|
NM_000527.5(LDLR):c.670_675delinsTTT (p.Asp224_Lys225delinsPhe)
|
rs879254628
|
|
|
NM_000527.5(LDLR):c.670_675dup (p.Asp224_Lys225dup)
|
rs879254628
|
|
|
NM_000527.5(LDLR):c.670dup (p.Asp224fs)
|
rs879254629
|
|
|
NM_000527.5(LDLR):c.671A>C (p.Asp224Ala)
|
rs879254630
|
|
|
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.671_675del (p.Asp224fs)
|
rs1555803455
|
|
|
NM_000527.5(LDLR):c.672C>A (p.Asp224Glu)
|
rs1057519658
|
|
|
NM_000527.5(LDLR):c.672C>G (p.Asp224Glu)
|
rs1057519658
|
|
|
NM_000527.5(LDLR):c.672_683dup (p.Asp224_Asp227dup)
|
rs1555803414
|
|
|
NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del)
|
rs1555803439
|
|
|
NM_000527.5(LDLR):c.673_674insTGCAA (p.Lys225fs)
|
rs879254618
|
|
|
NM_000527.5(LDLR):c.673_675inv (p.Lys225Phe)
|
|
|
|
NM_000527.5(LDLR):c.673_681dup (p.Lys225_Asp227dup)
|
|
|
|
NM_000527.5(LDLR):c.673_682delinsTGCA (p.Lys225_Glu228delinsCysLys)
|
|
|
|
NM_000527.5(LDLR):c.673_682delinsTGCAA (p.Lys225fs)
|
rs879254631
|
|
|
NM_000527.5(LDLR):c.674_683del (p.Lys225fs)
|
rs1057519659
|
|
|
NM_000527.5(LDLR):c.675_681dup (p.Glu228delinsIleTer)
|
rs1555803426
|
|
|
NM_000527.5(LDLR):c.675_689del (p.Lys225_Glu229del)
|
rs879254632
|
|
|
NM_000527.5(LDLR):c.675del (p.Lys225fs)
|
rs879254633
|
|
|
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro)
|
rs879254635
|
|
|
NM_000527.5(LDLR):c.676_677delinsAA (p.Ser226Asn)
|
rs2147225692
|
|
|
NM_000527.5(LDLR):c.676_684dup (p.Ser226_Glu228dup)
|
rs879254634
|
|
|
NM_000527.5(LDLR):c.677C>G (p.Ser226Cys)
|
rs879254636
|
|
|
NM_000527.5(LDLR):c.677C>T (p.Ser226Phe)
|
|
|
|
NM_000527.5(LDLR):c.677_681dup (p.Glu228fs)
|
rs2077282376
|
|
|
NM_000527.5(LDLR):c.678_681dup (p.Glu228Ter)
|
rs2077282376
|
|
|
NM_000527.5(LDLR):c.679G>A (p.Asp227Asn)
|
rs2077282480
|
|
|
NM_000527.5(LDLR):c.679G>C (p.Asp227His)
|
rs2077282480
|
|
|
NM_000527.5(LDLR):c.68-10T>C
|
|
|
|
NM_000527.5(LDLR):c.68-12C>T
|
|
|
|
NM_000527.5(LDLR):c.68-13T>C
|
|
|
|
NM_000527.5(LDLR):c.68-13T>G
|
|
|
|
NM_000527.5(LDLR):c.68-14T>C
|
|
|
|
NM_000527.5(LDLR):c.68-16T>A
|
|
|
|
NM_000527.5(LDLR):c.68-1G>A
|
rs879254397
|
|
|
NM_000527.5(LDLR):c.68-1G>C
|
rs879254397
|
|
|
NM_000527.5(LDLR):c.68-2A>G
|
|
|
|
NM_000527.5(LDLR):c.68-2A>T
|
rs879254396
|
|
|
NM_000527.5(LDLR):c.68-4T>C
|
rs2077192055
|
|
|
NM_000527.5(LDLR):c.68-5_68-2del
|
rs879254395
|
|
|
NM_000527.5(LDLR):c.68-79G>T
|
rs141878815
|
|
|
NM_000527.5(LDLR):c.68-8T>C
|
rs2077191949
|
|
|
NM_000527.5(LDLR):c.680A>G (p.Asp227Gly)
|
|
|
|
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.680_682delinsCA (p.Asp227fs)
|
rs879254637
|
|
|
NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs)
|
rs879254637
|
|
|
NM_000527.5(LDLR):c.680_692del (p.Asp227fs)
|
rs1057519660
|
|
|
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.681_682insTCAGGGAAACCCGACTGC (p.Asp227_Glu228insSerGlyLysProAspCys)
|
rs1555803471
|
|
|
NM_000527.5(LDLR):c.681_682insTGAG (p.Glu228Ter)
|
rs1555803427
|
|
|
NM_000527.5(LDLR):c.681_683del (p.Asp227del)
|
rs879254639
|
|
|
NM_000527.5(LDLR):c.681del (p.Asp227fs)
|
rs1057519661
|
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
|
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
|
|
|
NM_000527.5(LDLR):c.682_683insGACAAATCTGAG (p.Glu228delinsGlyGlnIleTer)
|
rs879254641
|
|
|
NM_000527.5(LDLR):c.682_683insGTATGGACTGCA (p.Glu228delinsGlyMetAspCysLys)
|
rs2147225826
|
|
|
NM_000527.5(LDLR):c.682del (p.Glu228fs)
|
rs879254640
|
|
|
NM_000527.5(LDLR):c.682delinsTCAAGGAAACCCGACTGCA (p.Glu228delinsSerArgLysProAspCysLys)
|
rs879254641
|
|
|
NM_000527.5(LDLR):c.682delinsTGCA (p.Glu228delinsCysLys)
|
rs879254641
|
|
|
NM_000527.5(LDLR):c.683A>C (p.Glu228Ala)
|
rs879254642
|
|
|
NM_000527.5(LDLR):c.683A>G (p.Glu228Gly)
|
rs879254642
|
|
|
NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del)
|
rs1064792905
|
|
|
NM_000527.5(LDLR):c.683del (p.Glu228fs)
|
rs1555803481
|
|
|
NM_000527.5(LDLR):c.684G>A (p.Glu228=)
|
|
|
|
NM_000527.5(LDLR):c.684G>C (p.Glu228Asp)
|
rs1208216597
|
|
|
NM_000527.5(LDLR):c.684G>T (p.Glu228Asp)
|
rs1208216597
|
|
|
NM_000527.5(LDLR):c.685G>A (p.Glu229Lys)
|
|
|
|
NM_000527.5(LDLR):c.685G>T (p.Glu229Ter)
|
|
|
|
NM_000527.5(LDLR):c.686A>T (p.Glu229Val)
|
|
|
|
NM_000527.5(LDLR):c.689A>T (p.Asn230Ile)
|
rs2077283326
|
|
|
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.693C>G (p.Cys231Trp)
|
rs121908035
|
|
|
NM_000527.5(LDLR):c.693C>T (p.Cys231=)
|
|
|
|
NM_000527.5(LDLR):c.693_694+20del
|
rs879254645
|
|
|
NM_000527.5(LDLR):c.694+10G>T
|
|
|
|
NM_000527.5(LDLR):c.694+12G>A
|
|
|
|
NM_000527.5(LDLR):c.694+13C>T
|
|
|
|
NM_000527.5(LDLR):c.694+15A>G
|
|
|
|
NM_000527.5(LDLR):c.694+15A>T
|
rs776688837
|
|
|
NM_000527.5(LDLR):c.694+1G>A
|
rs879254646
|
|
|
NM_000527.5(LDLR):c.694+1G>C
|
rs879254646
|
|
|
NM_000527.5(LDLR):c.694+1G>T
|
rs879254646
|
|
|
NM_000527.5(LDLR):c.694+24dup
|
|
|
|
NM_000527.5(LDLR):c.694+25C>T
|
|
|
|
NM_000527.5(LDLR):c.694+4dup
|
rs879254647
|
|
|
NM_000527.5(LDLR):c.694+6G>A
|
rs1019330092
|
|
|
NM_000527.5(LDLR):c.694+7G>A
|
rs1600711821
|
|
|
NM_000527.5(LDLR):c.694+7G>C
|
rs1600711821
|
|
|
NM_000527.5(LDLR):c.694+8_694+18del
|
rs777512182
|
|
|
NM_000527.5(LDLR):c.694+8_694+18dup
|
rs777512182
|
|
|
NM_000527.5(LDLR):c.694+9G>T
|
|
|
|
NM_000527.5(LDLR):c.694G>T (p.Ala232Ser)
|
rs72658857
|
|
|
NM_000527.5(LDLR):c.694_695del (p.Ala232fs)
|
|
|
|
NM_000527.5(LDLR):c.695-10T>C
|
rs778975482
|
|
|
NM_000527.5(LDLR):c.695-10T>G
|
|
|
|
NM_000527.5(LDLR):c.695-13T>C
|
rs879254650
|
|
|
NM_000527.5(LDLR):c.695-15T>G
|
|
|
|
NM_000527.5(LDLR):c.695-17T>C
|
|
|
|
NM_000527.5(LDLR):c.695-18C>G
|
|
|
|
NM_000527.5(LDLR):c.695-1G>A
|
rs879254652
|
|
|
NM_000527.5(LDLR):c.695-1G>C
|
|
|
|
NM_000527.5(LDLR):c.695-1G>T
|
rs879254652
|
|
|
NM_000527.5(LDLR):c.695-356_940+1059del
|
|
|
|
NM_000527.5(LDLR):c.695-3C>T
|
rs745897889
|
|
|
NM_000527.5(LDLR):c.695-5T>A
|
|
|
|
NM_000527.5(LDLR):c.695-5del
|
|
|
|
NM_000527.5(LDLR):c.695-6_698del
|
rs879254651
|
|
|
NM_000527.5(LDLR):c.695-9G>A
|
rs1453690068
|
|
|
NM_000527.5(LDLR):c.699_708del (p.Thr235fs)
|
rs2077297994
|
|
|
NM_000527.5(LDLR):c.69G>A (p.Val23=)
|
|
|
|
NM_000527.5(LDLR):c.6del (p.Trp4fs)
|
rs875989888
|
|
|
NM_000527.5(LDLR):c.702del (p.Thr235fs)
|
rs1555803641
|
|
|
NM_000527.5(LDLR):c.703dup (p.Thr235fs)
|
rs1555803643
|
|
|
NM_000527.5(LDLR):c.705_791del (p.Cys236_Met264del)
|
rs1555803644
|
|
|
NM_000527.5(LDLR):c.705dup (p.Cys236fs)
|
rs879254653
|
|
|
NM_000527.5(LDLR):c.706T>A (p.Cys236Ser)
|
rs879254655
|
|
|
NM_000527.5(LDLR):c.706T>C (p.Cys236Arg)
|
rs879254655
|
|
|
NM_000527.5(LDLR):c.706T>G (p.Cys236Gly)
|
rs879254655
|
|
|
NM_000527.5(LDLR):c.708dup (p.Arg237fs)
|
rs879254656
|
|
|
NM_000527.5(LDLR):c.70_192del (p.Gly24_Leu64del)
|
rs1555802242
|
|
|
NM_000527.5(LDLR):c.711C>A (p.Arg237=)
|
|
|
|
NM_000527.5(LDLR):c.712C>G (p.Pro238Ala)
|
rs376963526
|
|
|
NM_000527.5(LDLR):c.712C>T (p.Pro238Ser)
|
|
|
|
NM_000527.5(LDLR):c.715G>A (p.Asp239Asn)
|
|
|
|
NM_000527.5(LDLR):c.718G>T (p.Glu240Ter)
|
rs768563000
|
|
|
NM_000527.5(LDLR):c.722T>C (p.Phe241Ser)
|
rs748131256
|
|
|
NM_000527.5(LDLR):c.722T>G (p.Phe241Cys)
|
rs748131256
|
|
|
NM_000527.5(LDLR):c.724C>T (p.Gln242Ter)
|
rs879254658
|
|
|
NM_000527.5(LDLR):c.727T>A (p.Cys243Ser)
|
rs879254659
|
|
|
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)
|
rs879254659
|
|
|
NM_000527.5(LDLR):c.729C>T (p.Cys243=)
|
|
|
|
NM_000527.5(LDLR):c.735T>C (p.Asp245=)
|
rs1256476287
|
|
|
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.737del (p.Gly246fs)
|
rs879254660
|
|
|
NM_000527.5(LDLR):c.738A>G (p.Gly246=)
|
rs1555803658
|
|
|
NM_000527.5(LDLR):c.741C>G (p.Asn247Lys)
|
|
|
|
NM_000527.5(LDLR):c.741C>T (p.Asn247=)
|
|
|
|
NM_000527.5(LDLR):c.742T>G (p.Cys248Gly)
|
rs879254662
|
|
|
NM_000527.5(LDLR):c.743G>A (p.Cys248Tyr)
|
rs879254663
|
|
|
NM_000527.5(LDLR):c.743G>C (p.Cys248Ser)
|
rs879254663
|
|
|
NM_000527.5(LDLR):c.743G>T (p.Cys248Phe)
|
rs879254663
|
|
|
NM_000527.5(LDLR):c.743_744delinsAA (p.Cys248Ter)
|
|
|
|
NM_000527.5(LDLR):c.744C>A (p.Cys248Ter)
|
rs879254664
|
|
|
NM_000527.5(LDLR):c.744C>T (p.Cys248=)
|
rs879254664
|
|
|
NM_000527.5(LDLR):c.747C>T (p.Ile249=)
|
|
|
|
NM_000527.5(LDLR):c.750T>A (p.His250Gln)
|
rs141929940
|
|
|
NM_000527.5(LDLR):c.750T>C (p.His250=)
|
rs141929940
|
|
|
NM_000527.5(LDLR):c.752G>A (p.Gly251Asp)
|
|
|
|
NM_000527.5(LDLR):c.752dup (p.Ser252fs)
|
rs879254666
|
|
|
NM_000527.5(LDLR):c.753C>T (p.Gly251=)
|
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
|
NM_000527.5(LDLR):c.758G>C (p.Arg253Pro)
|
rs139507589
|
|
|
NM_000527.5(LDLR):c.759G>A (p.Arg253=)
|
rs2077299486
|
|
|
NM_000527.5(LDLR):c.759G>T (p.Arg253=)
|
|
|
|
NM_000527.5(LDLR):c.760C>T (p.Gln254Ter)
|
rs759109699
|
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
|
|
NM_000527.5(LDLR):c.762G>A (p.Gln254=)
|
|
|
|
NM_000527.5(LDLR):c.762G>T (p.Gln254His)
|
rs764526789
|
|
|
NM_000527.5(LDLR):c.762_763delinsTG (p.Gln254_Cys255delinsHisGly)
|
|
|
|
NM_000527.5(LDLR):c.762_763inv (p.Cys255Arg)
|
|
|
|
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.764G>A (p.Cys255Tyr)
|
rs879254669
|
|
|
NM_000527.5(LDLR):c.764G>T (p.Cys255Phe)
|
rs879254669
|
|
|
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.768C>G (p.Asp256Glu)
|
rs879254671
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
|
NM_000527.5(LDLR):c.76A>T (p.Arg26Ter)
|
rs879254398
|
|
|
NM_000527.5(LDLR):c.76del (p.Arg26fs)
|
rs879254399
|
|
|
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.770_771delinsAC (p.Arg257His)
|
rs730882087
|
|
|
NM_000527.5(LDLR):c.772G>A (p.Glu258Lys)
|
rs879254672
|
|
|
NM_000527.5(LDLR):c.776A>C (p.Tyr259Ser)
|
rs2077300176
|
|
|
NM_000527.5(LDLR):c.776A>G (p.Tyr259Cys)
|
|
|
|
NM_000527.5(LDLR):c.776_777del (p.Glu258_Tyr259insTer)
|
rs879254673
|
|
|
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter)
|
rs2147228929
|
|
|
NM_000527.5(LDLR):c.77G>A (p.Arg26Lys)
|
|
|
|
NM_000527.5(LDLR):c.77_78del (p.Arg26fs)
|
rs879254400
|
|
|
NM_000527.5(LDLR):c.780C>A (p.Asp260Glu)
|
rs2077300275
|
|
|
NM_000527.5(LDLR):c.780C>T (p.Asp260=)
|
|
|
|
NM_000527.5(LDLR):c.781T>A (p.Cys261Ser)
|
rs1372739823
|
|
|
NM_000527.5(LDLR):c.781T>C (p.Cys261Arg)
|
rs1372739823
|
|
|
NM_000527.5(LDLR):c.781del (p.Cys261fs)
|
rs879254674
|
|
|
NM_000527.5(LDLR):c.782G>A (p.Cys261Tyr)
|
rs121908040
|
|
|
NM_000527.5(LDLR):c.783C>A (p.Cys261Ter)
|
rs1057519663
|
|
|
NM_000527.5(LDLR):c.787G>A (p.Asp263Asn)
|
|
|
|
NM_000527.5(LDLR):c.787G>T (p.Asp263Tyr)
|
|
|
|
NM_000527.5(LDLR):c.78A>T (p.Arg26Ser)
|
|
|
|
NM_000527.5(LDLR):c.790A>G (p.Met264Val)
|
rs730882088
|
|
|
NM_000527.5(LDLR):c.790_793del (p.Met264fs)
|
rs879254675
|
|
|
NM_000527.5(LDLR):c.791del (p.Met264fs)
|
rs2077300688
|
|
|
NM_000527.5(LDLR):c.792G>A (p.Met264Ile)
|
rs1200173530
|
|
|
NM_000527.5(LDLR):c.793A>T (p.Ser265Cys)
|
rs879254676
|
|
|
NM_000527.5(LDLR):c.796G>C (p.Asp266His)
|
|
|
|
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr)
|
rs875989907
|
|
|
NM_000527.5(LDLR):c.796_799del (p.Asp266fs)
|
rs879254677
|
|
|
NM_000527.5(LDLR):c.796_800del (p.Asp266fs)
|
rs1555803701
|
|
|
NM_000527.5(LDLR):c.797A>G (p.Asp266Gly)
|
rs879254678
|
|
|
NM_000527.5(LDLR):c.797A>T (p.Asp266Val)
|
rs879254678
|
|
|
NM_000527.5(LDLR):c.798T>C (p.Asp266=)
|
rs139043155
|
|
|
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.79_81delinsCGT (p.Cys27Arg)
|
rs2077192500
|
|
|
NM_000527.5(LDLR):c.7C>A (p.Pro3Thr)
|
|
|
|
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.802G>A (p.Val268Ile)
|
|
|
|
NM_000527.5(LDLR):c.804T>C (p.Val268=)
|
|
|
|
NM_000527.5(LDLR):c.805G>A (p.Gly269Ser)
|
rs1131692200
|
|
|
NM_000527.5(LDLR):c.805_813del (p.Gly269_Val271del)
|
|
|
|
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.80G>A (p.Cys27Tyr)
|
|
|
|
NM_000527.5(LDLR):c.810C>A (p.Cys270Ter)
|
rs773328511
|
|
|
NM_000527.5(LDLR):c.810C>G (p.Cys270Trp)
|
rs773328511
|
|
|
NM_000527.5(LDLR):c.811del (p.Val271fs)
|
|
|
|
NM_000527.5(LDLR):c.814_817del (p.Val271_Asn272insTer)
|
rs879254684
|
|
|
NM_000527.5(LDLR):c.814_818del (p.Asn272fs)
|
|
|
|
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr)
|
rs202213054
|
|
|
NM_000527.5(LDLR):c.816T>A (p.Asn272Lys)
|
|
|
|
NM_000527.5(LDLR):c.816T>C (p.Asn272=)
|
rs1329690965
|
|
|
NM_000527.5(LDLR):c.817+13C>T
|
|
|
|
NM_000527.5(LDLR):c.817+18G>C
|
|
|
|
NM_000527.5(LDLR):c.817+19G>A
|
|
|
|
NM_000527.5(LDLR):c.817+1G>A
|
rs879254685
|
|
|
NM_000527.5(LDLR):c.817+1G>C
|
|
|
|
NM_000527.5(LDLR):c.817+1G>T
|
rs879254685
|
|
|
NM_000527.5(LDLR):c.817+2T>C
|
rs879254686
|
|
|
NM_000527.5(LDLR):c.817+2T>G
|
rs879254686
|
|
|
NM_000527.5(LDLR):c.817+6C>T
|
|
|
|
NM_000527.5(LDLR):c.817+7G>T
|
rs572275000
|
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
|
NM_000527.5(LDLR):c.818-13C>G
|
|
|
|
NM_000527.5(LDLR):c.818-13C>T
|
|
|
|
NM_000527.5(LDLR):c.818-1G>A
|
rs879254688
|
|
|
NM_000527.5(LDLR):c.818-20C>G
|
|
|
|
NM_000527.5(LDLR):c.818-2A>G
|
|
|
|
NM_000527.5(LDLR):c.818-3C>G
|
rs886039831
|
|
|
NM_000527.5(LDLR):c.818-3C>T
|
|
|
|
NM_000527.5(LDLR):c.818-4A>G
|
|
|
|
NM_000527.5(LDLR):c.818-5C>T
|
|
|
|
NM_000527.5(LDLR):c.818-7C>A
|
|
|
|
NM_000527.5(LDLR):c.818T>G (p.Val273Gly)
|
|
|
|
NM_000527.5(LDLR):c.819G>A (p.Val273=)
|
rs1555803817
|
|
|
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)
|
rs2228671
|
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
|
NM_000527.5(LDLR):c.820A>T (p.Thr274Ser)
|
rs879254690
|
|
|
NM_000527.5(LDLR):c.820_827del (p.Thr274fs)
|
rs879254689
|
|
|
NM_000527.5(LDLR):c.825C>G (p.Leu275=)
|
|
|
|
NM_000527.5(LDLR):c.825_826del (p.Cys276fs)
|
rs879254691
|
|
|
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.829G>T (p.Glu277Ter)
|
rs148698650
|
|
|
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)
|
rs551747280
|
|
|
NM_000527.5(LDLR):c.831G>C (p.Glu277Asp)
|
|
|
|
NM_000527.5(LDLR):c.832G>T (p.Gly278Ter)
|
rs1600715039
|
|
|
NM_000527.5(LDLR):c.833G>A (p.Gly278Glu)
|
|
|
|
NM_000527.5(LDLR):c.835C>T (p.Pro279Ser)
|
rs1555803827
|
|
|
NM_000527.5(LDLR):c.836C>G (p.Pro279Arg)
|
|
|
|
NM_000527.5(LDLR):c.839_848dup (p.Cys284fs)
|
rs1555803837
|
|
|
NM_000527.5(LDLR):c.840_841insT (p.Lys281Ter)
|
rs1555803841
|
|
|
NM_000527.5(LDLR):c.843_844insGGAC (p.Phe282fs)
|
rs2077311774
|
|
|
NM_000527.5(LDLR):c.844T>C (p.Phe282Leu)
|
rs2077311809
|
|
|
NM_000527.5(LDLR):c.845T>C (p.Phe282Ser)
|
rs2077311848
|
|
|
NM_000527.5(LDLR):c.845T>G (p.Phe282Cys)
|
rs2077311848
|
|
|
NM_000527.5(LDLR):c.847A>T (p.Lys283Ter)
|
rs1600715089
|
|
|
NM_000527.5(LDLR):c.848A>C (p.Lys283Thr)
|
|
|
|
NM_000527.5(LDLR):c.850T>A (p.Cys284Ser)
|
rs879254693
|
|
|
NM_000527.5(LDLR):c.850T>C (p.Cys284Arg)
|
rs879254693
|
|
|
NM_000527.5(LDLR):c.850T>G (p.Cys284Gly)
|
rs879254693
|
|
|
NM_000527.5(LDLR):c.850_852del (p.Cys284del)
|
rs2077312042
|
|
|
NM_000527.5(LDLR):c.851G>C (p.Cys284Ser)
|
rs879254694
|
|
|
NM_000527.5(LDLR):c.851G>T (p.Cys284Phe)
|
rs879254694
|
|
|
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
|
|
|
|
NM_000527.5(LDLR):c.854A>G (p.His285Arg)
|
rs1555803855
|
|
|
NM_000527.5(LDLR):c.855C>A (p.His285Gln)
|
rs879254695
|
|
|
NM_000527.5(LDLR):c.856A>G (p.Ser286Gly)
|
|
|
|
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.85A>T (p.Arg29Ter)
|
rs879254401
|
|
|
NM_000527.5(LDLR):c.860del (p.Gly287fs)
|
rs1131692201
|
|
|
NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)
|
|
|
|
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg)
|
rs879254697
|
|
|
NM_000527.5(LDLR):c.865del (p.Cys289fs)
|
rs879254696
|
|
|
NM_000527.5(LDLR):c.866G>A (p.Cys289Tyr)
|
rs1555803865
|
|
|
NM_000527.5(LDLR):c.867C>A (p.Cys289Ter)
|
|
|
|
NM_000527.5(LDLR):c.867C>T (p.Cys289=)
|
|
|
|
NM_000527.5(LDLR):c.869T>G (p.Ile290Ser)
|
rs879254699
|
|
|
NM_000527.5(LDLR):c.869_871dup (p.Ile290dup)
|
rs879254698
|
|
|
NM_000527.5(LDLR):c.86del (p.Arg29fs)
|
|
|
|
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
|
|
|
|
NM_000527.5(LDLR):c.873C>A (p.Thr291=)
|
|
|
|
NM_000527.5(LDLR):c.873C>T (p.Thr291=)
|
|
|
|
NM_000527.5(LDLR):c.874del (p.Leu292fs)
|
rs879254700
|
|
|
NM_000527.5(LDLR):c.875dup (p.Asp293fs)
|
rs879254701
|
|
|
NM_000527.5(LDLR):c.877del (p.Asp293fs)
|
rs879254702
|
|
|
NM_000527.5(LDLR):c.880A>G (p.Lys294Glu)
|
rs879254703
|
|
|
NM_000527.5(LDLR):c.881_882del (p.Lys294fs)
|
rs879254704
|
|
|
NM_000527.5(LDLR):c.882_883del (p.Lys294fs)
|
rs1131692202
|
|
|
NM_000527.5(LDLR):c.883del (p.Val295fs)
|
rs2077313046
|
|
|
NM_000527.5(LDLR):c.884del (p.Val295fs)
|
rs879254705
|
|
|
NM_000527.5(LDLR):c.885C>T (p.Val295=)
|
|
|
|
NM_000527.5(LDLR):c.886T>C (p.Cys296Arg)
|
rs1555803879
|
|
|
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.887G>T (p.Cys296Phe)
|
rs879254707
|
|
|
NM_000527.5(LDLR):c.887_889delinsAGC (p.Cys296_Asn297delinsTer)
|
rs879254706
|
|
|
NM_000527.5(LDLR):c.888C>A (p.Cys296Ter)
|
rs879254708
|
|
|
NM_000527.5(LDLR):c.888C>G (p.Cys296Trp)
|
|
|
|
NM_000527.5(LDLR):c.890A>C (p.Asn297Thr)
|
rs1555803887
|
|
|
NM_000527.5(LDLR):c.890A>G (p.Asn297Ser)
|
rs1555803887
|
|
|
NM_000527.5(LDLR):c.890del (p.Asn297fs)
|
rs879254710
|
|
|
NM_000527.5(LDLR):c.893T>C (p.Met298Thr)
|
|
|
|
NM_000527.5(LDLR):c.893dup (p.Met298fs)
|
|
|
|
NM_000527.5(LDLR):c.894G>A (p.Met298Ile)
|
|
|
|
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.896del (p.Ala299fs)
|
rs879254712
|
|
|
NM_000527.5(LDLR):c.897T>G (p.Ala299=)
|
rs2147231171
|
|
|
NM_000527.5(LDLR):c.898A>T (p.Arg300Ter)
|
rs767618089
|
|
|
NM_000527.5(LDLR):c.899G>A (p.Arg300Lys)
|
rs2077313724
|
|
|
NM_000527.5(LDLR):c.899G>C (p.Arg300Thr)
|
|
|
|
NM_000527.5(LDLR):c.900A>G (p.Arg300=)
|
|
|
|
NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr)
|
rs879254713
|
|
|
NM_000527.5(LDLR):c.901_911del (p.Asp301fs)
|
rs2077313770
|
|
|
NM_000527.5(LDLR):c.902A>C (p.Asp301Ala)
|
rs879254714
|
|
|
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
|
|
|
|
NM_000527.5(LDLR):c.902A>T (p.Asp301Val)
|
|
|
|
NM_000527.5(LDLR):c.903C>T (p.Asp301=)
|
|
|
|
NM_000527.5(LDLR):c.904T>C (p.Cys302Arg)
|
rs1555803891
|
|
|
NM_000527.5(LDLR):c.904T>G (p.Cys302Gly)
|
rs1555803891
|
|
|
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr)
|
rs879254715
|
|
|
NM_000527.5(LDLR):c.905G>T (p.Cys302Phe)
|
rs879254715
|
|
|
NM_000527.5(LDLR):c.905del (p.Cys302fs)
|
rs1057516130
|
|
|
NM_000527.5(LDLR):c.906C>A (p.Cys302Ter)
|
|
|
|
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp)
|
rs879254716
|
|
|
NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer)
|
rs875989908
|
|
|
NM_000527.5(LDLR):c.90C>G (p.Asn30Lys)
|
rs72658855
|
|
|
NM_000527.5(LDLR):c.90_91insTGTGTTT (p.Glu31delinsCysValTer)
|
rs1555802258
|
|
|
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.910del (p.Asp304fs)
|
rs2077314244
|
|
|
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.912C>T (p.Asp304=)
|
|
|
|
NM_000527.5(LDLR):c.914G>A (p.Trp305Ter)
|
rs879254717
|
|
|
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser)
|
rs879254717
|
|
|
NM_000527.5(LDLR):c.915G>A (p.Trp305Ter)
|
rs757252110
|
|
|
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys)
|
rs757252110
|
|
|
NM_000527.5(LDLR):c.915G>T (p.Trp305Cys)
|
rs757252110
|
|
|
NM_000527.5(LDLR):c.916_919dup (p.Asp307fs)
|
rs879254718
|
|
|
NM_000527.5(LDLR):c.917C>A (p.Ser306Ter)
|
rs11547917
|
|
|
NM_000527.5(LDLR):c.917C>G (p.Ser306Ter)
|
rs11547917
|
|
|
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.919G>T (p.Asp307Tyr)
|
rs879254719
|
|
|
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)
|
rs776421777
|
|
|
NM_000527.5(LDLR):c.91_104del (p.Glu31fs)
|
rs1555802259
|
|
|
NM_000527.5(LDLR):c.920A>C (p.Asp307Ala)
|
|
|
|
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.922G>T (p.Glu308Ter)
|
rs879254721
|
|
|
NM_000527.5(LDLR):c.924A>G (p.Glu308=)
|
rs1057519664
|
|
|
NM_000527.5(LDLR):c.924A>T (p.Glu308Asp)
|
rs1057519664
|
|
|
NM_000527.5(LDLR):c.925_931del (p.Pro309fs)
|
rs387906304
|
|
|
NM_000527.5(LDLR):c.926C>A (p.Pro309His)
|
rs1600715567
|
|
|
NM_000527.5(LDLR):c.928A>T (p.Ile310Phe)
|
|
|
|
NM_000527.5(LDLR):c.928dup (p.Ile310fs)
|
rs1555803912
|
|
|
NM_000527.5(LDLR):c.929T>A (p.Ile310Asn)
|
rs879254722
|
|
|
NM_000527.5(LDLR):c.929T>C (p.Ile310Thr)
|
rs879254722
|
|
|
NM_000527.5(LDLR):c.930C>T (p.Ile310=)
|
rs2147231392
|
|
|
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.933del (p.Glu312fs)
|
rs879254723
|
|
|
NM_000527.5(LDLR):c.934G>A (p.Glu312Lys)
|
|
|
|
NM_000527.5(LDLR):c.934G>T (p.Glu312Ter)
|
rs879254725
|
|
|
NM_000527.5(LDLR):c.935A>G (p.Glu312Gly)
|
|
|
|
NM_000527.5(LDLR):c.935_936del (p.Glu312fs)
|
|
|
|
NM_000527.5(LDLR):c.936G>A (p.Glu312=)
|
rs2077315472
|
|
|
NM_000527.5(LDLR):c.936G>T (p.Glu312Asp)
|
rs2077315472
|
|
|
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg)
|
rs879254728
|
|
|
NM_000527.5(LDLR):c.937T>G (p.Cys313Gly)
|
rs879254728
|
|
|
NM_000527.5(LDLR):c.937_938dup (p.Gly314fs)
|
|
|
|
NM_000527.5(LDLR):c.938G>C (p.Cys313Ser)
|
|
|
|
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.939C>G (p.Cys313Trp)
|
rs13306512
|
|
|
NM_000527.5(LDLR):c.939C>T (p.Cys313=)
|
|
|
|
NM_000527.5(LDLR):c.939_940+3del
|
rs879254727
|
|
|
NM_000527.5(LDLR):c.93G>A (p.Glu31=)
|
|
|
|
NM_000527.5(LDLR):c.93_99del (p.Glu31fs)
|
rs879254402
|
|
|
NM_000527.5(LDLR):c.940+14del
|
rs879254730
|
|
|
NM_000527.5(LDLR):c.940+17G>T
|
|
|
|
NM_000527.5(LDLR):c.940+18C>T
|
|
|
|
NM_000527.5(LDLR):c.940+19G>A
|
|
|
|
NM_000527.5(LDLR):c.940+1G>A
|
rs879254729
|
|
|
NM_000527.5(LDLR):c.940+1G>C
|
rs879254729
|
|
|
NM_000527.5(LDLR):c.940+1G>T
|
rs879254729
|
|
|
NM_000527.5(LDLR):c.940+1dup
|
rs1057519666
|
|
|
NM_000527.5(LDLR):c.940+2T>A
|
rs875989912
|
|
|
NM_000527.5(LDLR):c.940+2T>C
|
rs875989912
|
|
|
NM_000527.5(LDLR):c.940+2T>G
|
rs875989912
|
|
|
NM_000527.5(LDLR):c.940+2dup
|
|
|
|
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+6T>C
|
|
|
|
NM_000527.5(LDLR):c.940+7C>A
|
|
|
|
NM_000527.5(LDLR):c.940+845_1186+531del
|
|
|
|
NM_000527.5(LDLR):c.940+8T>C
|
rs1342359699
|
|
|
NM_000527.5(LDLR):c.940+9C>G
|
|
|
|
NM_000527.5(LDLR):c.940+9C>T
|
|
|
|
NM_000527.5(LDLR):c.940G>T (p.Gly314Trp)
|
|
|
|
NM_000527.5(LDLR):c.940_940+14del
|
rs1057519665
|
|
|
NM_000527.5(LDLR):c.941-10C>T
|
rs2147238414
|
|
|
NM_000527.5(LDLR):c.941-11G>T
|
|
|
|
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734
|
|
|
NM_000527.5(LDLR):c.941-13T>A
|
rs879254733
|
|
|
NM_000527.5(LDLR):c.941-14C>T
|
|
|
|
NM_000527.5(LDLR):c.941-14dup
|
rs879254732
|
|
|
NM_000527.5(LDLR):c.941-16C>A
|
|
|
|
NM_000527.5(LDLR):c.941-1G>A
|
rs879254735
|
|
|
NM_000527.5(LDLR):c.941-20C>T
|
|
|
|
NM_000527.5(LDLR):c.941-2A>C
|
rs112366278
|
|
|
NM_000527.5(LDLR):c.941-2A>G
|
rs112366278
|
|
|
NM_000527.5(LDLR):c.941-38C>T
|
rs879254731
|
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
|
NM_000527.5(LDLR):c.941-4G>A
|
|
|
|
NM_000527.5(LDLR):c.941-7T>G
|
|
|
|
NM_000527.5(LDLR):c.941-8C>G
|
rs2077359932
|
|
|
NM_000527.5(LDLR):c.944C>T (p.Thr315Ile)
|
rs2077360211
|
|
|
NM_000527.5(LDLR):c.946_994del (p.Asn316fs)
|
rs879254736
|
|
|
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.948del (p.Asn316fs)
|
rs1555804443
|
|
|
NM_000527.5(LDLR):c.949G>T (p.Glu317Ter)
|
rs746834464
|
|
|
NM_000527.5(LDLR):c.949dup (p.Glu317fs)
|
|
|
|
NM_000527.5(LDLR):c.951A>G (p.Glu317=)
|
rs1568600233
|
|
|
NM_000527.5(LDLR):c.951del (p.Glu317fs)
|
rs879254737
|
|
|
NM_000527.5(LDLR):c.952T>C (p.Cys318Arg)
|
rs879254738
|
|
|
NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr)
|
rs879254739
|
|
|
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
|
|
|
|
NM_000527.5(LDLR):c.954C>A (p.Cys318Ter)
|
rs1323416354
|
|
|
NM_000527.5(LDLR):c.955T>C (p.Leu319=)
|
|
|
|
NM_000527.5(LDLR):c.956T>C (p.Leu319Ser)
|
|
|
|
NM_000527.5(LDLR):c.95T>C (p.Phe32Ser)
|
rs879254403
|
|
|
NM_000527.5(LDLR):c.95T>G (p.Phe32Cys)
|
rs879254403
|
|
|
NM_000527.5(LDLR):c.961AAC[1] (p.Asn322del)
|
|
|
|
NM_000527.5(LDLR):c.961_962del (p.Asn321fs)
|
rs879254740
|
|
|
NM_000527.5(LDLR):c.962del (p.Asn321fs)
|
rs1555804455
|
|
|
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile)
|
rs879254742
|
|
|
NM_000527.5(LDLR):c.966C>A (p.Asn322Lys)
|
rs567080879
|
|
|
NM_000527.5(LDLR):c.966del (p.Asn322fs)
|
rs2077361078
|
|
|
NM_000527.5(LDLR):c.967G>T (p.Gly323Cys)
|
rs373869746
|
|
|
NM_000527.5(LDLR):c.968G>A (p.Gly323Asp)
|
|
|
|
NM_000527.5(LDLR):c.968del (p.Gly323fs)
|
rs879254743
|
|
|
NM_000527.5(LDLR):c.969del (p.Gly324fs)
|
rs879254744
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
|
NM_000527.5(LDLR):c.970G>T (p.Gly324Cys)
|
rs72658860
|
|
|
NM_000527.5(LDLR):c.971G>T (p.Gly324Val)
|
|
|
|
NM_000527.5(LDLR):c.971del (p.Gly324fs)
|
rs879254745
|
|
|
NM_000527.5(LDLR):c.972C>T (p.Gly324=)
|
|
|
|
NM_000527.5(LDLR):c.973T>C (p.Cys325Arg)
|
rs1568600328
|
|
|
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)
|
rs879254746
|
|
|
NM_000527.5(LDLR):c.974G>T (p.Cys325Phe)
|
rs879254746
|
|
|
NM_000527.5(LDLR):c.975T>C (p.Cys325=)
|
|
|
|
NM_000527.5(LDLR):c.975_986del (p.Ser326_Cys329del)
|
rs2077361365
|
|
|
NM_000527.5(LDLR):c.976T>C (p.Ser326Pro)
|
rs2077361498
|
|
|
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
|
|
|
|
NM_000527.5(LDLR):c.977C>T (p.Ser326Phe)
|
rs879254747
|
|
|
NM_000527.5(LDLR):c.978C>G (p.Ser326=)
|
rs1268166199
|
|
|
NM_000527.5(LDLR):c.978C>T (p.Ser326=)
|
|
|
|
NM_000527.5(LDLR):c.979del (p.His327fs)
|
rs2077361581
|
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|
|
NM_000527.5(LDLR):c.97_115del (p.Gln33fs)
|
rs2147210191
|
|
|
NM_000527.5(LDLR):c.980A>C (p.His327Pro)
|
rs2077361686
|
|
|
NM_000527.5(LDLR):c.980dup (p.His327fs)
|
rs879254748
|
|
|
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.984C>G (p.Val328=)
|
|
|
|
NM_000527.5(LDLR):c.985T>C (p.Cys329Arg)
|
rs879254749
|
|
|
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly)
|
rs879254749
|
|
|
NM_000527.5(LDLR):c.986G>T (p.Cys329Phe)
|
rs761954844
|
|
|
NM_000527.5(LDLR):c.987C>A (p.Cys329Ter)
|
rs1555804467
|
|
|
NM_000527.5(LDLR):c.987C>G (p.Cys329Trp)
|
rs1555804467
|
|
|
NM_000527.5(LDLR):c.987C>T (p.Cys329=)
|
|
|
|
NM_000527.5(LDLR):c.988A>G (p.Asn330Asp)
|
rs730882095
|
|
|
NM_000527.5(LDLR):c.990T>A (p.Asn330Lys)
|
rs1568600400
|
|
|
NM_000527.5(LDLR):c.996_1009delinsGCA (p.Lys333fs)
|
rs1568600415
|
|
|
NM_000527.5(LDLR):c.996_998delinsG (p.Lys333fs)
|
|
|
|
NM_000527.5(LDLR):c.996_998dup (p.Leu332_Lys333insAsn)
|
|
|
|
NM_000527.5(LDLR):c.99del (p.Gln33fs)
|
rs879254404
|
|
|
NM_000527.5(LDLR):c.9C>T (p.Pro3=)
|
rs2147186453
|
|
|
NM_000527.5(LDLR):c.9del (p.Trp4fs)
|
rs879254384
|
|
|
NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup
|
|
|
|
NM_000527.5:c.(2311+1_2312-1)_(2389+1_2390-1)del
|
|
|
|
NM_000527.5:c.(67+1_68-1)_(1845+1_1846-1)del
|
|
|
|
Single allele
|
|
|
|
c.(1060+1_1061-1)_(1186+1_1187-1)del
|
|
|
|
c.(1060+1_1061-1)_(1586+1_1587-1)dup
|
|
|
|
c.(1060+1_1061-1)_(1845+1_1846-1)del
|
|
|
|
c.(1186+1_1187-1)_(*2514_?)del
|
|
|
|
c.(1186+1_1187-1)_(1358+1_1359-1)del
|
|
|
|
c.(1186+1_1187-1)_(1358+1_1359-1)dup
|
|
|
|
c.(1186+1_1187-1)_(1586+1_1587-1)dup
|
|
|
|
c.(1186+1_1187-1)_(1845+1_1846-1)del
|
|
|
|
c.(1186+1_1187-1)_(1845+1_1846-1)dup
|
|
|
|
c.(1186+1_1187-1)_(2140+1_2141-1)del
|
|
|
|
c.(1186+1_1187-1)_(2140+1_2141-1)dup
|
|
|
|
c.(1586+1_1587-1)_(*2514_?)del
|
|
|
|
c.(1586+1_1587-1)_(1705+1_1706-1)del
|
|
|
|
c.(1586+1_1587-1)_(1845+1_1846-1)del
|
|
|
|
c.(1586+1_1587-1)_(1845+1_1846-1)dup
|
|
|
|
c.(1586+1_1587-1)_(2140+1_2141-1)del
|
|
|
|
c.(1586+1_1587-1)_(2140+1_2141-1)dup
|
|
|
|
c.(1586+1_1587-1)_(2311+1_2312-1)del
|
|
|
|
c.(1586+1_1587-1)_(2389+1_2390-1)del
|
|
|
|
c.(1586+1_1587-1)_(2547+1_2548-1)del
|
|
|
|
c.(1705+1_1706-1)_(*2514_?)del
|
|
|
|
c.(1705+1_1706-1)_(1845+1_1846-1)del
|
|
|
|
c.(1705+1_1706-1)_(1845+1_1846-1)dup
|
|
|
|
c.(1705+1_1706-1)_(2389+1_2390-1)del
|
|
|
|
c.(1845+1_1846-1)_(*2514_?)del
|
|
|
|
c.(1845+1_1846-1)_(2140+1_2141-1)dup
|
|
|
|
c.(1845+1_1846-1)_(2311+1_2312-1)del
|
|
|
|
c.(190+1_191-1)_(1060+1_1061-1)del
|
|
|
|
c.(190+1_191-1)_(1186+1_1187-1)dup
|
|
|
|
c.(190+1_191-1)_(1586+1_1587-1)del
|
|
|
|
c.(190+1_191-1)_(1845+1_1846-1)del
|
|
|
|
c.(190+1_191-1)_(1845+1_1846-1)dup
|
|
|
|
c.(190+1_191-1)_(2140+1_2141-1)dup
|
|
|
|
c.(190+1_191-1)_(313+1_314-1)del
|
|
|
|
c.(190+1_191-1)_(694+1_695-1)del
|
|
|
|
c.(190+1_191-1)_(694+1_695-1)dup
|
|
|
|
c.(190+1_191-1)_(817+1_818-1)del
|
|
|
|
c.(190+1_191-1)_(940+1_941-1)del
|
|
|
|
c.(190+1_191-1)_(940+1_941-1)dup
|
|
|
|
c.(1987+1_1988-1)_(2311+1_2312-1)del
|
|
|
|
c.(2140+1_2141-1)_(*2514_?)del
|
|
|
|
c.(2311+1_2312-1)_(*220_?)del
|
|
|
|
c.(2311+1_2312-1)_(*2514_?)del
|
|
|
|
c.(2311+1_2312-1)_(2389+1_2390-1)del
|
|
|
|
c.(2311+1_2312-1)_(2547+1_2548-1)dup
|
|
|
|
c.(2311+1_2312-1)_*807del
|
|
|
|
c.(2389+1_2390-1)_(*2514_?)del
|
|
|
|
c.(313+1_314-1)_(1186+1_1187-1)dup
|
|
|
|
c.(313+1_314-1)_(694+1_695-1)del
|
|
|
|
c.(313+1_314-1)_(817+1_818-1)dup
|
|
|
|
c.(313+1_314-1)_(940+1_941-1)dup
|
|
|
|
c.(67+1_68-1)_(1586+1_1587-1)del
|
|
|
|
c.(67+1_68-1)_(1705+1_1706-1)del
|
|
|
|
c.(67+1_68-1)_(190+1_191-1)del
|
|
|
|
c.(67+1_68-1)_(2140+1_2141-1)del
|
|
|
|
c.(67+1_68-1)_(2311+1_2312-1)dup
|
|
|
|
c.(67+1_68-1)_(2547+1_2548-1)del
|
|
|
|
c.(67+1_68-1)_(694+1_695-1)del
|
|
|
|
c.(67+1_68-1)_(817+1_818-1)del
|
|
|
|
c.(67+1_68-1)_(817+1_818-1)dup
|
|
|
|
c.(694+1_695-1)_(1586+1_1587-1)del
|
|
|
|
c.(694+1_695-1)_(940+1_941-1)del
|
|
|
|
c.(817+1_818-1)_(*2514_?)del
|
|
|
|
c.(817+1_818-1)_(1186+1_1187-1)del
|
|
|
|
c.(817+1_818-1)_(940+1_941-1)del
|
|
|
|
c.(940+1_941-1)_(*2514_?)dup
|
|
|
|
c.(940+1_941-1)_(1060+1_1061-1)del
|
|
|
|
c.(940+1_941-1)_(1186+1_1187-1)dup
|
|
|
|
c.(940+1_941-1)_(1586+1_1587-1)del
|
|
|
|
c.(940+1_941-1)_(1586+1_1587-1)dup
|
|
|
|
c.(940+1_941-1)_(1845+1_1846-1)del
|
|
|
|
c.(940+1_941-1)_(1845+1_1846-1)dup
|
|
|
|
c.(940+1_941-1)_(2140+1_2141-1)del
|
|
|
|
c.(940+1_941-1)_(2311+1_2312-1)del
|
|
|
|
c.(?_-187)_(1060+1_1061-1)del
|
|
|
|
c.(?_-187)_(1186+1_1187-1)del
|
|
|
|
c.(?_-187)_(1845+1_1846-1)del
|
|
|
|
c.(?_-187)_(190+1_191-1)del
|
|
|
|
c.(?_-187)_(2140+1_2141-1)del
|
|
|
|
c.(?_-187)_(2311+1_2312-1)del
|
|
|
|
c.(?_-187)_(67+1_68-1)del
|
|
|
|
c.(?_-187)_(67+1_68-1)dup
|
|
|
|
c.(?_-187)_(940+1_941-1)del
|
|
|
|
c.(?_-187)_*2584del
|
|
|