LDLR Locus - Ethnicities list
This page is a cross reference list of mutations detected in various
ethnicities. The ethnicities are ordered alphabetically.
del 9 at 2395
G>C at 514
G>T at 590
ins 21at 681
T>G at 259
G>T at 268
del 4 at 382
G>A at 523
dupl 18 at 678
C>G at 681
ins 18 at 678
C>T at 917
G>A at 910
del e7-8, 2.5kb
C>G at 1026
G>A at 1130
G>A at 1285
G>A at 1432
G>A at 2389
A>G at 662
del 3 at 652
G>T at 1145
del 8 at 1056
del C at 97
del G at 99
C>A at 1301
G>A at 1291
G>A at 1222
del e1, 6kb
C>T at -137
del C at 7
del G at 3
ins e2-8, 14kb
T>G at 81
del 4 at 308
del G at 235
C>T at 304
A>G at 269
G>A at 301
del 12 at 408
G>A at 551
G>A at 479
A>G at 671
C>G at 681
A>G at 662
G>T at 682
C>T at 631
G>T at 590
G>A at 809
T>A at 798
G>A at 718
C>T at 907
C>G at 912
del 7 at 925
G>A at 970
G>A at 953
T>C at 1090
G>C at 1329
G>A at 1222
C>T at 1246
G>A at 1470
C>T at 1576
del G at 1607
A>C at 1690
G>A at 1735
del T at 2092
T>C at 2029
C>T at 2177
del e16-18, 5.5kb
del e17-18, >10kb
G>A at 2479
G>A at 2441
del 9 at 2395
ins 4 at 1121
del 4 at 382
G>C at 682
ins 21at 681
G>A at 910
C>G at 1026
G>A at 1432
G>A at 131
A>T at 1061
T>G at 664
del G at 554
del 3 at 652
T>A at 2140+2
T>G at 985
C>T at 1216
del e7-14, 10/11kb
G>A at 1222
C>T at 1681
T>A at 708
del A at 1046
del 2 at 1374
ins 4 at 1368
C>A at 2043
G>A at 148
G>T at 311
G>A at 314-1
G>A at 313+1
C>A at 501
G>A at 532
A>G at 662
T>A at 798
C>T at 757
C>A at 828
C>A at 858
G>A at 1027
G>A at 1061-1
C>G at 1061+10
T>C at 1054
A>C at 1061
G>A at 1474
G>A at 1448
del 2 at 1478
G>A at 1646
G>A at 1816
G>A at 1775
G>A at 2023
G>T at 1997
G>A at 1998
G>A at 2093
G>A at 2140+5
G>A at 2439
del A at 83
G>A at 131
G>A at 313+1
G>T at 337
C>A at 429
ins 4 at 442
G>T at 347
ins 4 at 445
del 23 at 568
ins 19 at 483
G>T at 527
C>A at 731
C>A at 855
G>A at 829
C>G at 939
del e7-8, 3kb
G>A at 1027
C>G at 1056
C>T at 1075
G>T at 1078
del A at 1187-2
C>G at 1301
C>G at 1257
G>C at 1243
G>A at 1359-1
del 2 at 1840
C>T at 1823
G>A at 1775
C>T at 1982
C>G at 2100
C>T at 2096
G>T at 91
T>C at 589
del 2 at 694
G>A at 743
C>A at 666
A>G at 1069
del e2-6, 9.5kb
del e2-6, 10kb
del e3-8, 11kb
del e4-6, 5kb
G>A at 418
C>A at 666
G>A at 1195
G>T at 1195
del e13-14, 4.5kb
del e13-14, 3.7kb
del e17, 0.4 kb
G>A at 11
G>A at 13
del GA at 77
G>A at 268
G>A at 344
T>C at 550
G>T at 682
del 3 at 632
G>A at 682
G>A at 809
C>T at 757
G>A at 986
C>T at 1132
G>A at 1285
T>G at 1241
G>A at 1448
del e11-14, 10kb
T>C at 1664
C>T at 1747
G>A at 1879
G>A at 2050
del C at 2012
ins 7 at 2114
del T at 2015
G>A at 2087
del C at 2475
A>T at 364
C>T at 571
T>C at 1277
G>A at 1432
G>A at 1474
G>T at 1706-1
del C at 1779
C>T at 1880
G>T at 2030
G>A at 2389
C>A at 2043
C>G at -135
G>A at 12
C>T at 724
T>C at 482
Ins 8 at 681
del A at 2552
T>G at 81
G>A at 829
G>A at 1285
G>A at 2389
C>A at 939
C>T at 1150
C>G at 1158
C>T at 530
G>T at 527
T>A at 798
del C at 896
C>G at 917
del G at 970
ins 8 at 1060
C>T at 1246
ins 96 at 1272
A>G at 1552
ins 8 at 1669
del C at 2068
C>T at -136
del e2-5, 2kb
G>A at 131
del e3-6, 9kb
T>G at 259
C>T at 241
G>T at 313+1
G>A at 313+1
G>T at 337
G>A at 418
C>A at 429
del 10 at 335
G>A at 514
G>A at 642
del e5, 1kb
T>C at 727
C>T at 917
C>A at 1104
del C at 1335
A>C at 1210
T>C at 1307
T>A at 1448
T>A at 1451
G>A at 1586+5
del G at 1650
A>C at 1690
G>A at 1705+1
G>C at 1730
C>T at 1828
A>T at 1786
G>A at 1735
G>A at 1846-1
T>G at 2001
C>T at 2177
del e17, 2kb
C>G at 2475
G>A at 2439
del 9 at 2395
T>C at 1061-8
C>G at 564
A>G at 1
del 4 at 68-5
del e2-10, 22kb
A>C at 161
T>G at 95
G>T at 146
G>A at 131
A>G at 191-2
del e3-8, 10kb
ins e3-8, 10kb
T>C at 313+2
G>T at 313+1
G>A at 314-1
G>A at 313+1
del e4-6, 5kb
C>A at 402
T>C at 400
C>A at 429
T>G at 463
C>T at 530
G>A at 523
C>A at 501
T>C at 550
C>G at 681
G>T at 682
G>A at 622
del 2 at 646
C>A at 666
G>A at 682
C>T at 757
T>C at 765
del 5 at 796
G>A at 796
del G at 877
A>G at 880
C>T at 917
del G at 940
del G at 938
G>A at 910
A>G at 932
ins e7-12, 7kb
del e7-10, 6.3kb
del e7-8, 4kb
G>A at 1027
T>G at 1012
C>G at 1056
G>A at 970
G>T at 1004
G>C at 1061-8
A>G at 1000
G>A at 1069
A>C at 1151
C>A at 1176
del A at 1085
ins e9-12, 4.4kb
C>G at 1301
G>A at 1285
T>C at 1307
G>C at 1329
C>G at 1284
G>A at 1291
G>T at 1297
C>T at 1246
G>A at 1358+1
G>A at 1359-1
A>G at 1525
T>C at 1549
del 2 at 1546
G>A at 1567
ins e11, 7kb
ins C at 1645
G>T at 1603
A>C at 1690
C>A at 1688
G>A at 1715
A>C at 1794
T>A at 1793
del e13-14, 4kb
C>T at 1897
G>A at 2000
del 12 at 2032
C>T at 2096
del 14 at 2050
del 13 at 2056
G>A at 2140+5
C>T at 2177
del e16, 0.4kb
del 5 at 2343
G>T at 2389
G>T at 2389+1
A>G at 2390-2
G>A at 2479
del 9 at 2395
ins 18 at 2424
ins 18 at 2406
A>G at 2548-2
G>C at 313+1
C>T at 2032
G>A at 590
del e1-6, >25kb
T>G at 81
A>G at 191-2
T>G at 259
A>G at 269
C>G at 296
C>T at 232
G>A at 301
G>A at 313+1
G>T at 326
C>G at 681
G>A at 661
del 7 at 582
C>A at 693
del AC at 680
ins 21at 681
C>T at 694+24
del e5, 0.7kb
del 2 at 931
C>G at 912
C>A at 858
del e7, 1kb
del e7-14, 12kb
del 24 at1008
C>A at 1056
A>C at 1133
G>A at 1222
d 9/ins 5 at 1359-23
ins 4 at 1419
T>C at 1447
C>T at 1576
T>C at 1796
del e13-14, 4kb
C>A at 2043
del e15-18,10.5kb
C>T at 2177
del A at 2292
C>T at 530
C>T at -136
C>T at 313
G>T at 301
del 13 at 325
G>T at 661
G>A at 665
C>G at 768
G>A at 915
del 7 at 925
del e7-10, 7.5kb
G>A at 1186
T>A at 1202
C>A at 1335
G>A at 1432
del e11-16, 13kb
del13/ins17 at 1640
del e14-15, 5kb
del e15, 6kb
del e16-18, 9.5kb
G>A at 2531
C>T at 1978
G>T at 1864
G>T at 91
C>G at 1301
G>A at 1775
ins e2-5, 14kb
G>A at 155
C>T at 97
G>A at 191-1
ins e3-5, 7kb
T>G at 259
G>T at 301
del 2 at 312
G>A at 301
del 2 at 313+1
C>T at 460
G>T at 337
C>A at 429
T>G at 463
del 21/ins A at 442
G>C at 428
G>A at 383
T>A at 361
T>C at 377
ins 4 at 374
del G at 518
C>T at 530
G>A at 523
del 7 at 483
C>G at 501
G>C at 551
G>A at 670
del G at 617
A>G at 662
ins 11 at 683
T>C at 664
C>A at 693
G>A at 682
del A at 616
del e5, 0.8kb
C>T at 769
A>G at 767
G>T at 743
G>A at 829
G>T at 910
del 2 at 931
C>G at 939
del AG at 882
ins T at 875
C>G at 912
A>G at 932
C>A at 858
G>A at 1027
T>G at 985
G>A at 1003
C>A at 1008
A>G at 1007
G>A at 1069
G>A at 1103
G>A at 1187-1
G>T at 1285
C>T at 1342
T>G at 1241
G>C at 1329
C>G at 1323
G>A at 1222
T>C at 1268
del C at 1392
T>C at 1495
del A at 1456
del G at 1530
G>A at 1637
G>T at 1646
A>C at 1690
T>C at 1814
del 4 at 1716
C>T at 1763
del C at 1751
del C at 1737
ins GTC at 1734
T>C at 1845+2
G>A at 1846-1
ins 5 at 1951
T>G at 1856
T>G at 1958
ins A at 1934
A>C at 1975
T>C at 1856
G>A at 1907
T>G at 2001
T>C at 2045
C>A at 2043
del 13 at 2030
C>T at 2177
G>T at 2167
del e16-17, 2kb
G>A at 2439
ins G at 2416
ins 4 at 2450
del e1, >15kb
del e2-3, 5kb
T>G at 259
C>G at 519
Ins 7 at 681
ins 7 at 681
G>A at 682
A>G at 1123
T>C at 1102
C>G at 1467
G>A at 2000
A>G at 1
G>A at 67+1
G>A at 139
G>T at 146
G>A at 131
G>A at 245
ins 2 at 195
T>G at 259
G>A at 224
C>T at 253
G>A at 301
T>C at 313+2
ins G at 313+1
G>A at 313+1
T>A at 427
T>C at 400
T>C at 325
G>T at 337
G>C at 420
G>A at 385
ins 8 at 533
C>T at 530
G>A at 523
G>A at 518
C>G at 519
ins G at 558
ins G at 553
T>G at 523
T>G at 517
G>A at 500
del 12 at 523
del 5 at 340
T>G at 534
del C at 657
del G at 652
ins 11 at 680
G>A at 661
A>G at 662
ins 11 at 615
G>T at 661
G>T at 682
del 5, ins 6
A>T at 671
ins 18 at 681
del 37 at 651
T>C at 598
del 3 at 652
C>T at 757
del 87 at 704
G>T at 796
G>A at 829
A>T at 820
G>A at 862
C>T at 917
G>A at 967
G>A at 1013
del G at 970
ins e8-12, 4kb
G>T at 1091
C>G at 1176
A>G at 1061
C>A at 1341
G>A at 1285
C>G at 1294
G>C at 1329
C>T at 1246
G>A at 1247
del G at 1302
T>A at 1358+2
A>G at 1415
G>A at 1470
Ins C at 1428
del 2 at 1478
G>A at 1618
A>C at 1690
del 7 at 1782
C>T at 1747
del 7 at 1783
C>T at 1720
G>A at 1775
A>C at 1874
T>A at 1916
T>G at 2001
C>T at 2053
C>T at 2096
ins G at 2023
G>A at 2042
C>T at 2221
T>A at 2417
A>G at 2548
T>G at 463
T>A at 798
T>A at 283
T>C at 283
C>T at 323
ins 12 at 680
ins 5 at 662
del G at 2167
del G at 3
del 6 at 137
G>A at 523
T>C at 517
C>G at 681
A>G at 902
A>C at 902
C>A at 939
C>A at 858
T>C at 1352
G>A at 1285
G>A at 1646
del T at 2092
G>C at 1061-1
G>T at 337
C>T at 349
del e9-10, 2kb
G>A at 1618
A>C at 2390-2
T>C at 694+2
G>A at 829
del 2 at 1478
C>G at 906
C>A at 693
del AC at 680
del 2 at 931
G>A at 910
T>C at 1447
del A at 2292
G>A at 622
del prom -e6, 24kb
del e1-2, 20kb
del e1-6, >25kb
T>A at 28
del e2-12, 24kb
del e2-12, 24kb
C>T at 103
G>A at 139
C>T at 97
del e3-15
ins e3-6, 8kb
del e3-10, 12kb
C>T at 304
T>C at 265
G>T at 301
ins e3-6, 7kb
G>T at 352
G>T at 418
G>A at 415
C>G at 402
C>T at 373
G>T at 401
G>A at 551
G>A at 518
A>G at 671
del 22 at 624
C>T at 593
A>G at 662
ins 18 at 681
G>A at 665
del 3/ins 6 at 682
G>A at 682
A>C at 761
G>A at 806
G>A at 829
C>G at 828
G>T at 862
T>C at 826
T>C at 952
C>G at 1056
G>T at 953
ins 18 at 1069
A>C at 1109
G>A at 1118
T>C at 1135
Ins 4 at 1122
T>C at 1090
T>A /ins 18 at 1062
del A at 1067
A>G at 1244
C>G at 1301
del 2 at 1374
ins 4 at 1419
T>A at 1463
del 11 at 1439
A>G at 1454
del 2 at 1478
G>A at 1567
T>C at 1532
G>A at 1586+1
del e11-12, 4kb
G>A at 1646
G>T at 1694
G>T at 1735
C>A at 1790
del G at 1778
G>A at 1775
G>A at 1846-1
ins e13-15, 7kb
del e13-14, 3.7kb
del e13-14, 4.7kb
del e13-15, 5kb
del e13-15, 4.5kb
C>G at 2087
C>T at 2308
G>A at 2311+1
del e16, 2kb
ins e16-17, 5.5kb
G>A at 2389+1
A>G at 2483
G>A at 1195
G>A at 1706-10
G>A at 313+1
ins e9-14, 10kb
G>C at 68-1
del e2-3, 10kb
del e2-3,5kb
del e2-3?4, 12kb
G>C at 137
G>A at 139
C>A at 285
T>A at 223
G>A at 418
del 7 at 355
Ins C at 389
C>T at 370
ins 21at 681
G>T at 901
del e7-14, 13kb
del e7-14, 12kb
T>C at 1012
T>A at 1012
del 9/ins 6 at 1115
G>A at 1136
G>C at 1078
G>C at 1329
G>C at 1297
T>C at 1207
G>A at 1285
ins 5 at 1246
G>A at 1291
ins C at 1689
G>A at 1599
del T at 1655
C>G at 1702
G>A at 1784
C>T at 1822
C>A at 1822
ins G at 1778
T>C at 1845+2
del T at 1963
G>A at 2140
ins T at 2035
del e15, 6kb
del 2 at 2199
del e16-17, 4kb
del e16-18, 7.8kb
del 21 at 2320
A>T at 2431
ins G at 2416
C>A at 285
G>A at 313+1
G>A at 344
G>A at 379
C>T at 544
G>A at 661
G>T at 682
G>A at 692
G>A at 694+1
del e7-8, 3.83kb
del e9-12, 5.71kb
G>A at 1567
del 36 at 1591
del TG at 1671
del 9 at 1600
T>C at 1814
C>T at 1723
G>A at 2140
G>A at 1567
G>C at 1179
G>A at 682
G>A at 953
T>C at 1090
G>A at 1055
G>T at 682
del e6-13,10.3-11.2k
ins e14-17,12.3-15.2
del 7 at 582
G>T at 311
T>G at 259
del G at 211
G>A at 301
ins A at 319
G>A at 266
C>A at 519
G>A at 551
A>G at 662
del A at 931
A>T at 1168
del G at 1185
G>A at 1444
del G at 1778
T>C at 166
G>A at 131
del e2-3, 4.8kb
T>G at 259
C>G at 296
G>A at 313+1
C>A at 465
T>G at 463
G>T at 502
G>T at 523
C>G at 681
A>G at 662
T>G at 691
G>T at 682
G>A at 1069
G>T at 1078
A>G at 1097
C>G at 1201
C>T at 1246
del 3 at 1459
G>A at 1470
G>T at 1705+1
G>A at 1686
C>G at 681
G>A at 418
T>G at 463
C>T at 530
del 3 at 652
del AG at 935
del 2 at 933
del e7, 1kb
C>A at 1056
A>G at 1691
G>A at 1775
C>T at 2056
del 4 at 2046
del A at 2552
ins e7-8, 4kb
G>A at 670
ins e7-12, >5kb
complex, >5kb
C>T at 530
del G at 226
del e4-6, 5kb
T>G at 444
T>G at 478
del 3 at 652
G>T at 1252
T>A at 1322
G>A at 1731
A>T at 2374
G>A at 313+1
C>T at -218
G>A at 190+1
C>T at 241
G>A at 344
del TC at 369
del G at 617
ins 18 at 681
G>A at 772
A>G at 1954
G>T at 2140+1
del 6 at 137
C>T at 757
G>A at 1217
G>A at 1222
G>A at 2441
G>A at 642
C>T at -152
T>C at 28
G>A at 148
G>A at 523
A>C at 671
T>G at 691
G>A at 941-4
T>G at 1154
G>C at 1329
ins G at 558
A>C at 1133
C>T at 1150
G>A at 1247
G>A at 1646
del T at 2092
C>A at 2043
G>A at 418
ins G at 397
G>T at 661
G>C at 682
G>A at 682
C>A at 1176
C>G at 1215
A>T at 2357
C>T at 232
C>T at 253
C>G at 1284
del 3 at -183
del G at 172
G>A at 551
G>A at 502
del C at 510
C>A at 693
G>A at 656
T>C at 676
del 9 at 1567
G>C at 502
G>C at 682
G>A at 1027
G>A at 1646
del e13-18, >25kb
del G at 554
G>A at 1432
G>T at -269
A>T at 1
del e1-2, 20kb
del prom-e1,18.5kb
G>A at 11
A>C at 1
G>A at 12
del G at 3
ins e2-14, 17kb
G>T at 91
ins A at 111
G>A at 131
ins e3-4, 3.8kb
del G at 211
T>G at 283
C>G at 267
C>G at 274
G>A at 301
del e4-6, 4.2kb
C>T at 460
G>A at 418
T>C at 346
C>G at 542
del G at 518
C>A at 519
C>T at 530
G>A at 523
A>G at 662
G>T at 661
del 4 at 790
A>G at 902
G>A at 829
ins 4 at 916
C>A at 828
G>A at 905
del A at 1046
del C at 1043
G>A at 1136
C>G at 1301
C>A at 1301
C>T at 1246
T>A at 1463
G>T at 1646
del 7/ins 2 at 1698
G>A at 1706-10
G>C at 1845+1
T>C at 1963
C>G at 2100
G>A at 1988
del 19 at 2085
G>A at 2000
ins T at 2207
G>A at 2390-1
C>A at 2475
del C at 165
T>G at 259
G>T at 301
C>G at 296
G>A at 313+1
C>A at 429
del G at 554
C>A at 564
del 2 at 560
A>G at 662
G>T at 682
G>A at 622
ins G at 785
G>T at 782
del 2 at 823
G>A at 829
del 7 at 925
C>A at 888
G>A at 1130
G>A at 1222
T>C at 1268
G>A at 1586+5
del 2 at 1745
G>A at 1735
T>A at 2001
ins G at 2417
T>C at 550
G>A at 827
del 1 at 1172
C>A at 2043
T>C at 1999
A>G at 2483
del 3, in 7 at 1493
G>A at 1845+1
G>A at 1846-1
C>T at 97
ins e10-12, 5kb
del e1-6, >10.5kb
C>A at -146
C>A at -14
del G at 3
del e2-6, 10kb
del A at 118
G>T at 311
C>T at 251
G>A at 261
G>A at 268
del G at 301
C>G at 267
G>A at 326
del 2/ins 2 at 324
G>A at 337
G>A at 266
del A at 353
C>T at 530
G>A at 502
C>A at 501
del C at 657
del T at 646
G>T at 682
del 3/ins 14 at 680
del G at 736
T>C at 722
G>T at 799
G>T at 772
G>A at 818-1
ins e7-18, >20kb
C>T at 1033
C>G at 1022
G>C at 1049
ins e8-10,2.6-6kb
del 4 at 1116
A>G at 1061
G>A at 1285
del G at 1233
C>T at 1246
T>C at 1436
ins 4 at 1374
G>C at 1444
G>C at 1474
ins 4 at 1368
ins 4 at 1415
G>A at 1618
A>C at 1690
G>C at 1694
C>G at 1823
G>T at 1816
C>T at 1823
ins A at 1802
G>T at 1833
del e13-14, 2kb
C>T at 1897
complex
ins C at 1943
T>C at 1855
T>C at 1858
del G at 1987
C>T at 1946
del T at 2060
T>A at 2041
G>T at 2000
ins 7 at 2114
G>C at 2140+1
G>A at 2231
G>A at 2389+1
del 9 at 2458
del G at 2417
G>A at 1024
C>T at 979
C>A at 1196
G>A at 938
del 3 at 651
del 3 at 648
G>T at 418
T>C at -138
G>A at 1171
C>T at 1048
C>T at 2054