NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)
|
rs2734272
|
0.99956
|
NM_054027.6(ANKH):c.*1271A>C
|
rs25990
|
0.99568
|
NM_054027.6(ANKH):c.*2107A>G
|
rs25991
|
0.99530
|
NM_054027.6(ANKH):c.*3706G>A
|
rs25992
|
0.94776
|
NM_054027.6(ANKH):c.*3928C>T
|
rs27911
|
0.87166
|
NM_001375808.2(LPIN2):c.*685T>A
|
rs607549
|
0.71526
|
NM_054027.6(ANKH):c.*5641A>G
|
rs26307
|
0.71463
|
NM_000088.4(COL1A1):c.4249-12G>A
|
rs2249492
|
0.52233
|
NM_001375808.2(LPIN2):c.*2934C>T
|
rs7980
|
0.50276
|
NM_173842.3(IL1RN):c.390T>C (p.Ser130=)
|
rs315952
|
0.34551
|
NM_173842.3(IL1RN):c.*138C>G
|
rs315951
|
0.34373
|
NM_173842.3(IL1RN):c.*964G>A
|
rs9005
|
0.28345
|
NM_001375808.2(LPIN2):c.*3C>T
|
rs3745012
|
0.26634
|
NM_001375808.2(LPIN2):c.*3068A>T
|
rs1985
|
0.24248
|
NM_173842.3(IL1RN):c.171T>C (p.Ala57=)
|
rs419598
|
0.21244
|
NM_054027.6(ANKH):c.1011+15T>G
|
rs187483
|
0.20625
|
NM_173841.3(IL1RN):c.73+8A>C
|
rs878972
|
0.20572
|
NM_173841.3(IL1RN):c.-12G>C
|
rs2234679
|
0.20534
|
NM_173841.3(IL1RN):c.-31A>G
|
rs2234678
|
0.20530
|
NM_001375808.2(LPIN2):c.*3139A>G
|
rs1164
|
0.18839
|
NM_001375808.2(LPIN2):c.*657A>C
|
rs16944040
|
0.16453
|
NM_000088.4(COL1A1):c.*744C>T
|
rs1061947
|
0.15959
|
NM_054027.6(ANKH):c.294C>T (p.Ala98=)
|
rs17251667
|
0.13744
|
NM_000088.4(COL1A1):c.1930-14T>C
|
rs2696247
|
0.13425
|
NM_000088.4(COL1A1):c.*1011T>C
|
rs1061970
|
0.12435
|
NM_054027.6(ANKH):c.*31A>G
|
rs3045
|
0.09134
|
NM_001375808.2(LPIN2):c.*2493C>G
|
rs8091401
|
0.08828
|
NM_054027.6(ANKH):c.313+9G>A
|
rs73048890
|
0.07896
|
NM_000088.4(COL1A1):c.859-14T>G
|
rs17639446
|
0.07746
|
NM_001375808.2(LPIN2):c.*1052T>C
|
rs59566682
|
0.06708
|
NM_054027.6(ANKH):c.963A>G (p.Ala321=)
|
rs2288474
|
0.06312
|
NM_054027.6(ANKH):c.*510C>T
|
rs17364066
|
0.06225
|
NM_001375808.2(LPIN2):c.*501T>C
|
rs35176958
|
0.05856
|
NM_054027.6(ANKH):c.-4G>A
|
rs78431233
|
0.05430
|
NM_054027.6(ANKH):c.*3899T>C
|
rs559763037
|
0.04947
|
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=)
|
rs1800218
|
0.04610
|
NM_001375808.2(LPIN2):c.*2923C>T
|
rs202079191
|
0.04421
|
NM_000088.4(COL1A1):c.177G>T (p.Arg59=)
|
rs1057297
|
0.04003
|
NM_001375808.2(LPIN2):c.*2946G>A
|
rs4781
|
0.03480
|
NM_001375808.2(LPIN2):c.*557G>A
|
rs112795993
|
0.03331
|
NM_001375808.2(LPIN2):c.-10+1342C>G
|
rs59096963
|
0.03286
|
NM_001375808.2(LPIN2):c.-10+1343C>G
|
rs58940048
|
0.03285
|
NM_001375808.2(LPIN2):c.*2241T>C
|
rs16944033
|
0.03080
|
NM_054027.6(ANKH):c.*4672G>A
|
rs61502042
|
0.02679
|
NM_173842.3(IL1RN):c.*162C>T
|
rs4252041
|
0.02647
|
NM_001375808.2(LPIN2):c.1168+11G>C
|
rs79439091
|
0.02576
|
NM_054027.6(ANKH):c.*561C>T
|
rs116140147
|
0.02462
|
NM_054027.6(ANKH):c.*4182T>G
|
rs13358074
|
0.02029
|
NM_054027.6(ANKH):c.*4244T>A
|
rs137905502
|
0.01911
|
NM_001375808.2(LPIN2):c.*950A>C
|
rs3810065
|
0.01773
|
NM_173842.3(IL1RN):c.*311G>A
|
rs4252028
|
0.01661
|
NM_173842.3(IL1RN):c.*310T>C
|
rs4252027
|
0.01657
|
NM_173842.3(IL1RN):c.459C>T (p.Asp153=)
|
rs4252023
|
0.01650
|
NM_054027.6(ANKH):c.1265+6T>C
|
rs114529889
|
0.01616
|
NM_054027.6(ANKH):c.*2119C>T
|
rs150130025
|
0.01502
|
NM_054027.6(ANKH):c.*3628T>C
|
rs141052195
|
0.01460
|
NM_054027.6(ANKH):c.*3420T>C
|
rs79059123
|
0.01452
|
NM_001375808.2(LPIN2):c.*1502G>A
|
rs113346639
|
0.01434
|
NM_001375808.2(LPIN2):c.*99C>T
|
rs143728428
|
0.01403
|
NM_054027.6(ANKH):c.*580C>T
|
rs192753009
|
0.01397
|
NM_173842.3(IL1RN):c.116+5G>A
|
rs4252004
|
0.01392
|
NM_173842.3(IL1RN):c.*537G>A
|
rs41294742
|
0.01363
|
NM_000088.4(COL1A1):c.298+7C>A
|
rs41317345
|
0.01333
|
NM_054027.6(ANKH):c.*283C>T
|
rs36072175
|
0.01320
|
NM_054027.6(ANKH):c.*4251T>C
|
rs77573132
|
0.01317
|
NM_054027.6(ANKH):c.*925T>C
|
rs115929672
|
0.01275
|
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=)
|
rs17555442
|
0.01175
|
NM_054027.6(ANKH):c.*4624A>C
|
rs78550928
|
0.01160
|
NM_054027.6(ANKH):c.*3543G>T
|
rs114164305
|
0.01111
|
NM_054027.6(ANKH):c.*5759G>C
|
rs116362523
|
0.01091
|
NM_054027.6(ANKH):c.*6226G>A
|
rs116590750
|
0.01087
|
NM_054027.6(ANKH):c.*4513G>A
|
rs148211290
|
0.00949
|
NM_054027.6(ANKH):c.405C>T (p.Leu135=)
|
rs149656955
|
0.00943
|
NM_001375808.2(LPIN2):c.*2822C>T
|
rs73375246
|
0.00916
|
NM_054027.6(ANKH):c.258C>T (p.Ala86=)
|
rs74355706
|
0.00903
|
NM_001375808.2(LPIN2):c.*438C>T
|
rs150379164
|
0.00868
|
NM_001375808.2(LPIN2):c.*1691A>G
|
rs112588494
|
0.00863
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys)
|
rs61735393
|
0.00824
|
NM_054027.6(ANKH):c.*4219T>C
|
rs147322366
|
0.00820
|
NM_000088.4(COL1A1):c.*1165C>G
|
rs149419718
|
0.00794
|
NM_001375808.2(LPIN2):c.-10+1313C>T
|
rs116643915
|
0.00793
|
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)
|
rs148275339
|
0.00788
|
NM_054027.6(ANKH):c.688-14G>A
|
rs187770990
|
0.00755
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
NM_054027.6(ANKH):c.432+13G>A
|
rs112742497
|
0.00728
|
NM_001375808.2(LPIN2):c.147C>T (p.His49=)
|
rs17886056
|
0.00707
|
NM_000088.4(COL1A1):c.904-9G>T
|
rs141726413
|
0.00680
|
NM_054027.6(ANKH):c.*5895C>A
|
rs141264056
|
0.00653
|
NM_054027.6(ANKH):c.*3900T>C
|
rs76635089
|
0.00632
|
NM_054027.6(ANKH):c.*724A>C
|
rs141576604
|
0.00627
|
NM_001375808.2(LPIN2):c.*358G>A
|
rs184193388
|
0.00608
|
NM_000088.4(COL1A1):c.*1175T>G
|
rs75713851
|
0.00595
|
NM_054027.6(ANKH):c.*6386G>C
|
rs145195435
|
0.00582
|
NM_173841.2(IL1RN):c.-83G>A
|
rs45526933
|
0.00580
|
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)
|
rs34940368
|
0.00563
|
NM_001375808.2(LPIN2):c.*3015T>C
|
rs14916
|
0.00541
|
NM_001375808.2(LPIN2):c.*1622T>C
|
rs111366726
|
0.00538
|
NM_000088.4(COL1A1):c.*1233G>A
|
rs73987442
|
0.00516
|
NM_001375808.2(LPIN2):c.*1082G>A
|
rs149858117
|
0.00508
|
NM_001375808.2(LPIN2):c.590+6A>G
|
rs73375280
|
0.00505
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_001375808.2(LPIN2):c.*2553G>A
|
rs149332969
|
0.00440
|
NM_173842.3(IL1RN):c.465C>T (p.Pro155=)
|
rs2232355
|
0.00435
|
NM_000088.4(COL1A1):c.750+12G>T
|
rs79480112
|
0.00434
|
NM_054027.6(ANKH):c.*6163A>G
|
rs182300014
|
0.00411
|
NM_054027.6(ANKH):c.*1008C>G
|
rs143400303
|
0.00394
|
NM_054027.6(ANKH):c.*5662C>T
|
rs190396675
|
0.00384
|
NM_001375808.2(LPIN2):c.*1586G>A
|
rs144299426
|
0.00382
|
NM_054027.6(ANKH):c.*1814G>A
|
rs183138464
|
0.00367
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln)
|
rs146886108
|
0.00329
|
NM_054027.6(ANKH):c.*2543G>C
|
rs143619241
|
0.00325
|
NM_001375808.2(LPIN2):c.*806C>T
|
rs144349249
|
0.00316
|
NM_054027.6(ANKH):c.1332C>T (p.Val444=)
|
rs139351002
|
0.00309
|
NM_054027.6(ANKH):c.1453G>A (p.Val485Met)
|
rs143550972
|
0.00304
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_054027.6(ANKH):c.*5518C>T
|
rs143143398
|
0.00280
|
NM_001375808.2(LPIN2):c.-10+1206A>T
|
rs112648131
|
0.00272
|
NM_054027.6(ANKH):c.*831T>C
|
rs182130104
|
0.00267
|
NM_000088.4(COL1A1):c.*1088G>A
|
rs191326459
|
0.00264
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00253
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000088.4(COL1A1):c.-57G>A
|
rs2734278
|
0.00229
|
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro)
|
rs150022314
|
0.00221
|
NM_000088.4(COL1A1):c.*548C>A
|
rs557681960
|
0.00220
|
NM_001375808.2(LPIN2):c.*1147A>G
|
rs139015163
|
0.00215
|
NM_001375808.2(LPIN2):c.-10+1256G>A
|
rs181504392
|
0.00215
|
NM_054027.6(ANKH):c.*52G>A
|
rs369937597
|
0.00200
|
NM_054027.6(ANKH):c.102G>A (p.Leu34=)
|
rs116591972
|
0.00196
|
NM_001375808.2(LPIN2):c.*797T>G
|
rs3810064
|
0.00180
|
NM_001375808.2(LPIN2):c.-10+1381T>C
|
rs566304730
|
0.00176
|
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr)
|
rs112513380
|
0.00173
|
NM_054027.6(ANKH):c.-252C>T
|
rs530246274
|
0.00168
|
NM_054027.6(ANKH):c.*1988C>G
|
rs552146695
|
0.00167
|
NM_054027.6(ANKH):c.*3962T>C
|
rs528418242
|
0.00159
|
NM_054027.6(ANKH):c.*3616C>T
|
rs550672520
|
0.00158
|
NM_000088.4(COL1A1):c.*378C>G
|
rs148131473
|
0.00150
|
NM_001375808.2(LPIN2):c.*100G>A
|
rs564971189
|
0.00147
|
NM_054027.6(ANKH):c.*2699G>C
|
rs569690245
|
0.00145
|
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)
|
rs80338805
|
0.00142
|
NM_001375808.2(LPIN2):c.*2076C>A
|
rs112529707
|
0.00137
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_001375808.2(LPIN2):c.*251C>T
|
rs563023966
|
0.00131
|
NM_001375808.2(LPIN2):c.*1077C>G
|
rs563088438
|
0.00121
|
NM_054027.6(ANKH):c.*3336_*3339del
|
rs377752827
|
0.00118
|
NM_001375808.2(LPIN2):c.*903T>A
|
rs78462116
|
0.00114
|
NM_001375808.2(LPIN2):c.*1418G>A
|
rs552844041
|
0.00111
|
NM_001375808.2(LPIN2):c.*850G>A
|
rs73375250
|
0.00106
|
NM_000088.4(COL1A1):c.2613+14G>A
|
rs41316685
|
0.00101
|
NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr)
|
rs45507693
|
0.00097
|
NM_001375808.2(LPIN2):c.*699A>G
|
rs145046223
|
0.00092
|
NM_173842.3(IL1RN):c.*644del
|
rs757094565
|
0.00089
|
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)
|
rs147266928
|
0.00087
|
NM_054027.6(ANKH):c.*2714T>C
|
rs141202503
|
0.00086
|
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu)
|
rs104895501
|
0.00083
|
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser)
|
rs150806357
|
0.00083
|
NM_054027.6(ANKH):c.*5459C>T
|
rs79739542
|
0.00083
|
NM_054027.6(ANKH):c.*11G>A
|
rs111369645
|
0.00081
|
NM_054027.6(ANKH):c.369G>A (p.Ser123=)
|
rs145463643
|
0.00078
|
NM_054027.6(ANKH):c.681G>A (p.Glu227=)
|
rs144687394
|
0.00074
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_054027.6(ANKH):c.*1711C>A
|
rs75139257
|
0.00066
|
NM_054027.6(ANKH):c.*3627G>A
|
rs149815187
|
0.00066
|
NM_001375808.2(LPIN2):c.*1027G>A
|
rs551503883
|
0.00064
|
NM_000088.4(COL1A1):c.1461+13G>T
|
rs371161009
|
0.00061
|
NM_054027.6(ANKH):c.*2392G>T
|
rs185488764
|
0.00059
|
NM_054027.6(ANKH):c.*349A>G
|
rs146084864
|
0.00059
|
NM_001375808.2(LPIN2):c.*158G>A
|
rs547872442
|
0.00058
|
NM_001375808.2(LPIN2):c.*637G>A
|
rs118142692
|
0.00058
|
NM_001375808.2(LPIN2):c.*151G>A
|
rs571000282
|
0.00056
|
NM_001375808.2(LPIN2):c.*2103G>A
|
rs561577089
|
0.00056
|
NM_054027.6(ANKH):c.*6012T>C
|
rs576051028
|
0.00056
|
NM_173842.3(IL1RN):c.69G>A (p.Thr23=)
|
rs2232353
|
0.00055
|
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=)
|
rs148737409
|
0.00054
|
NM_054027.6(ANKH):c.*1646A>G
|
rs564365629
|
0.00052
|
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu)
|
rs34676691
|
0.00051
|
NM_054027.6(ANKH):c.*706C>T
|
rs150916853
|
0.00051
|
NM_001375808.2(LPIN2):c.2443-9C>T
|
rs191749331
|
0.00047
|
NM_001375808.2(LPIN2):c.*2417C>T
|
rs760089028
|
0.00046
|
NM_054027.6(ANKH):c.*2200T>C
|
rs191334359
|
0.00046
|
NM_000088.4(COL1A1):c.*981G>C
|
rs574167621
|
0.00045
|
NM_001375808.2(LPIN2):c.*520T>C
|
rs576721761
|
0.00045
|
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)
|
rs149862905
|
0.00045
|
NM_054027.6(ANKH):c.*2243C>T
|
rs531980160
|
0.00045
|
NM_000088.4(COL1A1):c.3424-6C>A
|
rs370865189
|
0.00044
|
NM_001375808.2(LPIN2):c.*1742A>G
|
rs551448975
|
0.00044
|
NM_054027.6(ANKH):c.*1626G>A
|
rs760609731
|
0.00041
|
NM_054027.6(ANKH):c.*4351C>T
|
rs141209810
|
0.00041
|
NM_000088.4(COL1A1):c.-66G>A
|
rs565562045
|
0.00039
|
NM_000088.4(COL1A1):c.462C>T (p.Gly154=)
|
rs41317351
|
0.00038
|
NM_001375808.2(LPIN2):c.*1827G>A
|
rs886053747
|
0.00038
|
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu)
|
rs147615538
|
0.00038
|
NM_054027.6(ANKH):c.*4103G>A
|
rs181397772
|
0.00038
|
NM_000088.4(COL1A1):c.*1087C>T
|
rs557843360
|
0.00036
|
NM_054027.6(ANKH):c.*3554C>T
|
rs185233583
|
0.00036
|
NM_054027.6(ANKH):c.*4958T>C
|
rs187771198
|
0.00036
|
NM_000088.4(COL1A1):c.334-5C>A
|
rs115997082
|
0.00035
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00034
|
NM_000088.4(COL1A1):c.*631G>A
|
rs569577942
|
0.00033
|
NM_001375808.2(LPIN2):c.*2605G>A
|
rs559796642
|
0.00033
|
NM_001375808.2(LPIN2):c.*666C>T
|
rs186189096
|
0.00033
|
NM_173842.3(IL1RN):c.*119C>T
|
rs377302236
|
0.00033
|
NM_054027.6(ANKH):c.915+14C>T
|
rs140045509
|
0.00032
|
NM_173842.3(IL1RN):c.*382C>T
|
rs45566534
|
0.00032
|
NM_000088.4(COL1A1):c.1002+10G>T
|
rs368316440
|
0.00031
|
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)
|
rs1800214
|
0.00031
|
NM_000088.4(COL1A1):c.1768-8C>T
|
rs193922142
|
0.00030
|
NM_054027.6(ANKH):c.1141+5A>G
|
rs187972211
|
0.00030
|
NM_000088.4(COL1A1):c.1983+9G>C
|
rs201091992
|
0.00029
|
NM_001375808.2(LPIN2):c.*1021G>A
|
rs886053751
|
0.00029
|
NM_001375808.2(LPIN2):c.*3280C>T
|
rs751266426
|
0.00029
|
NM_054027.6(ANKH):c.*405G>A
|
rs557668196
|
0.00029
|
NM_054027.6(ANKH):c.*819T>G
|
rs186783503
|
0.00029
|
NM_054027.6(ANKH):c.*840G>C
|
rs568699300
|
0.00029
|
NM_054027.6(ANKH):c.1021G>A (p.Val341Met)
|
rs199664007
|
0.00029
|
NM_000088.4(COL1A1):c.*836C>T
|
rs527358320
|
0.00028
|
NM_001375808.2(LPIN2):c.*167C>T
|
rs533979693
|
0.00027
|
NM_001375808.2(LPIN2):c.*2391G>A
|
rs536036852
|
0.00027
|
NM_001375808.2(LPIN2):c.*1443G>A
|
rs532711041
|
0.00026
|
NM_001375808.2(LPIN2):c.*833G>A
|
rs540627141
|
0.00026
|
NM_001375808.2(LPIN2):c.-10+1187C>T
|
rs765741319
|
0.00026
|
NM_054027.6(ANKH):c.*695_*698dup
|
rs555469650
|
0.00026
|
NM_001375808.2(LPIN2):c.*2390C>T
|
rs555969171
|
0.00025
|
NM_001375808.2(LPIN2):c.*477C>T
|
rs140430664
|
0.00025
|
NM_001375808.2(LPIN2):c.1783G>C (p.Ala595Pro)
|
rs373929015
|
0.00025
|
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=)
|
rs187572602
|
0.00025
|
NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe)
|
rs201638660
|
0.00025
|
NM_001375808.2(LPIN2):c.1168+6C>T
|
rs200130790
|
0.00024
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)
|
rs1800211
|
0.00021
|
NM_001375808.2(LPIN2):c.*3217A>G
|
rs767074158
|
0.00021
|
NM_054027.6(ANKH):c.*2974G>A
|
rs182073449
|
0.00021
|
NM_054027.6(ANKH):c.*3172A>G
|
rs933543701
|
0.00021
|
NM_173842.3(IL1RN):c.117-9C>T
|
rs373136455
|
0.00021
|
NM_000088.4(COL1A1):c.957+10C>A
|
rs376179885
|
0.00020
|
NM_001375808.2(LPIN2):c.*1462A>G
|
rs560770304
|
0.00020
|
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=)
|
rs149301001
|
0.00019
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
0.00019
|
NM_000088.4(COL1A1):c.299-15C>T
|
rs199523510
|
0.00019
|
NM_001375808.2(LPIN2):c.*1126G>A
|
rs886053750
|
0.00019
|
NM_054027.6(ANKH):c.*6235G>A
|
rs546234916
|
0.00019
|
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser)
|
rs201678207
|
0.00018
|
NM_001375808.2(LPIN2):c.2327+10C>T
|
rs367921036
|
0.00018
|
NM_000088.4(COL1A1):c.*120T>C
|
rs773014749
|
0.00017
|
NM_000088.4(COL1A1):c.3815-12G>T
|
rs201066018
|
0.00017
|
NM_001375808.2(LPIN2):c.*1874C>G
|
rs75771450
|
0.00017
|
NM_001375808.2(LPIN2):c.*945G>A
|
rs112444822
|
0.00017
|
NM_001375808.2(LPIN2):c.2328-13A>T
|
rs199830303
|
0.00017
|
NM_000088.4(COL1A1):c.*202A>G
|
rs564917505
|
0.00016
|
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)
|
rs375914028
|
0.00016
|
NM_000088.4(COL1A1):c.1615-14C>T
|
rs190098788
|
0.00016
|
NM_001375808.2(LPIN2):c.*660A>G
|
rs754769201
|
0.00016
|
NM_054027.6(ANKH):c.314-13C>T
|
rs201856062
|
0.00016
|
NM_173841.2(IL1RN):c.-71A>G
|
rs748164399
|
0.00016
|
NM_001375808.2(LPIN2):c.*2557G>A
|
rs890590348
|
0.00015
|
NM_054027.6(ANKH):c.*5768T>C
|
rs145549693
|
0.00015
|
NM_173841.2(IL1RN):c.*1156T>C
|
rs140343304
|
0.00015
|
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln)
|
rs544848340
|
0.00014
|
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=)
|
rs776387246
|
0.00013
|
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)
|
rs767525556
|
0.00013
|
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)
|
rs201136122
|
0.00013
|
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr)
|
rs146424724
|
0.00013
|
NM_054027.6(ANKH):c.*3386G>A
|
rs368727070
|
0.00013
|
NM_054027.6(ANKH):c.*4250T>C
|
rs776929735
|
0.00013
|
NM_054027.6(ANKH):c.*5900T>C
|
rs943784205
|
0.00013
|
NM_054027.6(ANKH):c.*6034A>C
|
rs886060067
|
0.00013
|
NM_054027.6(ANKH):c.*6205G>A
|
rs886060065
|
0.00013
|
NM_001375808.2(LPIN2):c.*2866A>C
|
rs17880885
|
0.00012
|
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=)
|
rs186864136
|
0.00012
|
NM_054027.6(ANKH):c.*3548G>A
|
rs539426552
|
0.00012
|
NM_054027.6(ANKH):c.*433G>A
|
rs189866379
|
0.00012
|
NM_054027.6(ANKH):c.*4428T>C
|
rs563509166
|
0.00012
|
NM_000088.4(COL1A1):c.2613+13C>T
|
rs368380161
|
0.00011
|
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp)
|
rs151171179
|
0.00011
|
NM_001375808.2(LPIN2):c.1169-3C>T
|
rs200259086
|
0.00011
|
NM_001375808.2(LPIN2):c.2657C>T (p.Pro886Leu)
|
rs147203309
|
0.00011
|
NM_054027.6(ANKH):c.*2017G>A
|
rs759890855
|
0.00011
|
NM_054027.6(ANKH):c.*3752G>A
|
rs896227717
|
0.00011
|
NM_054027.6(ANKH):c.*5912T>A
|
rs886060068
|
0.00011
|
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys)
|
rs114929884
|
0.00011
|
NM_000088.4(COL1A1):c.*1384_*1387del
|
rs886053139
|
0.00010
|
NM_000088.4(COL1A1):c.*502C>T
|
rs1004356084
|
0.00010
|
NM_001375808.2(LPIN2):c.*155G>C
|
rs1470550539
|
0.00010
|
NM_001375808.2(LPIN2):c.*778C>T
|
rs924335721
|
0.00010
|
NM_054027.6(ANKH):c.*2236G>A
|
rs201439698
|
0.00010
|
NM_000088.4(COL1A1):c.*342C>A
|
rs1253268385
|
0.00009
|
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile)
|
rs138557594
|
0.00009
|
NM_001375808.2(LPIN2):c.*773C>T
|
rs190290283
|
0.00009
|
NM_001375808.2(LPIN2):c.*810G>A
|
rs769197357
|
0.00009
|
NM_054027.6(ANKH):c.*1754G>A
|
rs971385670
|
0.00009
|
NM_054027.6(ANKH):c.*5930C>T
|
rs747178382
|
0.00009
|
NM_054027.6(ANKH):c.1338C>T (p.Ile446=)
|
rs756749018
|
0.00009
|
NM_054027.6(ANKH):c.1365+13C>T
|
rs377704922
|
0.00009
|
NM_173842.3(IL1RN):c.*605T>C
|
rs965074033
|
0.00009
|
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)
|
rs369699409
|
0.00008
|
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)
|
rs575285203
|
0.00008
|
NM_001375808.2(LPIN2):c.*984T>C
|
rs546238775
|
0.00008
|
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=)
|
rs143562359
|
0.00008
|
NM_173842.3(IL1RN):c.*75C>G
|
rs4252026
|
0.00008
|
NM_001375808.2(LPIN2):c.*1026C>T
|
rs529650414
|
0.00007
|
NM_054027.6(ANKH):c.*793A>G
|
rs377136068
|
0.00007
|
NM_000088.4(COL1A1):c.*21G>C
|
rs201085309
|
0.00006
|
NM_000088.4(COL1A1):c.*714C>T
|
rs567392981
|
0.00006
|
NM_000088.4(COL1A1):c.1155+12C>T
|
rs774034198
|
0.00006
|
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn)
|
rs372215246
|
0.00006
|
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr)
|
rs150803124
|
0.00006
|
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr)
|
rs769571473
|
0.00006
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
NM_000088.4(COL1A1):c.528C>T (p.Ser176=)
|
rs748856187
|
0.00006
|
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu)
|
rs763409550
|
0.00006
|
NM_001375808.2(LPIN2):c.*1514G>C
|
rs544570644
|
0.00006
|
NM_001375808.2(LPIN2):c.*2412C>T
|
rs553336397
|
0.00006
|
NM_001375808.2(LPIN2):c.*725G>A
|
rs886053755
|
0.00006
|
NM_001375808.2(LPIN2):c.*84A>G
|
rs886053764
|
0.00006
|
NM_001375808.2(LPIN2):c.*897T>G
|
rs886053752
|
0.00006
|
NM_001375808.2(LPIN2):c.-10+1170G>A
|
rs751000184
|
0.00006
|
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser)
|
rs148607670
|
0.00006
|
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe)
|
rs144555528
|
0.00006
|
NM_054027.6(ANKH):c.*1081C>T
|
rs886060083
|
0.00006
|
NM_054027.6(ANKH):c.*1270A>C
|
rs187733448
|
0.00006
|
NM_054027.6(ANKH):c.*2262G>T
|
rs537181523
|
0.00006
|
NM_054027.6(ANKH):c.*3562G>T
|
rs917646845
|
0.00006
|
NM_054027.6(ANKH):c.*5899A>G
|
rs976896150
|
0.00006
|
NM_000088.4(COL1A1):c.*1151C>T
|
rs536196631
|
0.00005
|
NM_000088.4(COL1A1):c.*1205C>G
|
rs551536386
|
0.00005
|
NM_001375808.2(LPIN2):c.1099G>A (p.Ala367Thr)
|
rs540544894
|
0.00005
|
NM_001375808.2(LPIN2):c.353T>C (p.Ile118Thr)
|
rs181542503
|
0.00005
|
NM_054027.6(ANKH):c.*2393A>T
|
rs963039838
|
0.00005
|
NM_054027.6(ANKH):c.*4635A>C
|
rs1036873430
|
0.00005
|
NM_054027.6(ANKH):c.*6129G>A
|
rs757736999
|
0.00005
|
NM_054027.6(ANKH):c.*914A>C
|
rs556791755
|
0.00005
|
NM_054027.6(ANKH):c.*999T>C
|
rs957305303
|
0.00005
|
NM_054027.6(ANKH):c.1012-11T>G
|
rs576472902
|
0.00005
|
NM_000088.4(COL1A1):c.*285C>A
|
rs990020766
|
0.00004
|
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)
|
rs372029024
|
0.00004
|
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)
|
rs781491172
|
0.00004
|
NM_000088.4(COL1A1):c.3630C>T (p.His1210=)
|
rs745320719
|
0.00004
|
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)
|
rs371904584
|
0.00004
|
NM_001375808.2(LPIN2):c.*1559A>G
|
rs886053748
|
0.00004
|
NM_001375808.2(LPIN2):c.*1810A>G
|
rs886740636
|
0.00004
|
NM_001375808.2(LPIN2):c.*2724A>G
|
rs886053744
|
0.00004
|
NM_001375808.2(LPIN2):c.*804G>A
|
rs1294529732
|
0.00004
|
NM_001375808.2(LPIN2):c.*828T>G
|
rs776259595
|
0.00004
|
NM_001375808.2(LPIN2):c.*834G>A
|
rs886053753
|
0.00004
|
NM_001375808.2(LPIN2):c.-10+1219C>T
|
rs762246311
|
0.00004
|
NM_001375808.2(LPIN2):c.1456+4C>G
|
rs373685201
|
0.00004
|
NM_001375808.2(LPIN2):c.1796C>T (p.Pro599Leu)
|
rs372850864
|
0.00004
|
NM_001375808.2(LPIN2):c.56A>G (p.Tyr19Cys)
|
rs371299772
|
0.00004
|
NM_054027.6(ANKH):c.*309G>C
|
rs530153364
|
0.00004
|
NM_054027.6(ANKH):c.*4982T>C
|
rs901092803
|
0.00004
|
NM_054027.6(ANKH):c.*833T>C
|
rs995943291
|
0.00004
|
NM_054027.6(ANKH):c.1272C>T (p.His424=)
|
rs201295416
|
0.00004
|
NM_054027.6(ANKH):c.288C>T (p.Ile96=)
|
rs373730199
|
0.00004
|
NM_054027.6(ANKH):c.313+12G>A
|
rs769050375
|
0.00004
|
NM_173842.3(IL1RN):c.*1039C>T
|
rs559281814
|
0.00004
|
NM_173842.3(IL1RN):c.*958C>T
|
rs370000982
|
0.00004
|
NM_000088.4(COL1A1):c.*1265C>T
|
rs567249120
|
0.00003
|
NM_000088.4(COL1A1):c.*682C>T
|
rs77720683
|
0.00003
|
NM_000088.4(COL1A1):c.*733G>A
|
rs886053148
|
0.00003
|
NM_000088.4(COL1A1):c.*795C>T
|
rs886053147
|
0.00003
|
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)
|
rs765154255
|
0.00003
|
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys)
|
rs775106436
|
0.00003
|
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys)
|
rs753683126
|
0.00003
|
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=)
|
rs756297543
|
0.00003
|
NM_001375808.2(LPIN2):c.*252G>A
|
rs886053762
|
0.00003
|
NM_001375808.2(LPIN2):c.*275C>G
|
rs886053761
|
0.00003
|
NM_001375808.2(LPIN2):c.*2999C>A
|
rs138807947
|
0.00003
|
NM_001375808.2(LPIN2):c.*448C>T
|
rs886053759
|
0.00003
|
NM_001375808.2(LPIN2):c.*934G>C
|
rs1032890815
|
0.00003
|
NM_054027.6(ANKH):c.*2694T>C
|
rs886060075
|
0.00003
|
NM_054027.6(ANKH):c.*2770C>T
|
rs563898623
|
0.00003
|
NM_054027.6(ANKH):c.*5887G>C
|
rs1054439108
|
0.00003
|
NM_054027.6(ANKH):c.1000C>G (p.Leu334Val)
|
rs199961741
|
0.00003
|
NM_173842.3(IL1RN):c.414T>C (p.Ser138=)
|
rs146491054
|
0.00003
|
NM_000088.4(COL1A1):c.*251dup
|
rs886053154
|
0.00002
|
NM_000088.4(COL1A1):c.*93A>G
|
rs367971695
|
0.00002
|
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)
|
rs543735501
|
0.00002
|
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser)
|
rs756337302
|
0.00002
|
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)
|
rs757759451
|
0.00002
|
NM_001375808.2(LPIN2):c.*1157T>C
|
rs1240536600
|
0.00002
|
NM_001375808.2(LPIN2):c.*2710A>G
|
rs760097342
|
0.00002
|
NM_001375808.2(LPIN2):c.*823G>A
|
rs747730329
|
0.00002
|
NM_001375808.2(LPIN2):c.1247C>T (p.Ala416Val)
|
rs777239535
|
0.00002
|
NM_054027.6(ANKH):c.*1490T>C
|
rs776755741
|
0.00002
|
NM_054027.6(ANKH):c.*1772C>T
|
rs775380495
|
0.00002
|
NM_054027.6(ANKH):c.*1948_*1949del
|
rs527743958
|
0.00002
|
NM_054027.6(ANKH):c.*3567G>C
|
rs144789671
|
0.00002
|
NM_054027.6(ANKH):c.*4137G>C
|
rs886060072
|
0.00002
|
NM_054027.6(ANKH):c.*5579G>A
|
rs1200080153
|
0.00002
|
NM_054027.6(ANKH):c.*6006A>T
|
rs1373491504
|
0.00002
|
NM_054027.6(ANKH):c.*781T>A
|
rs886060086
|
0.00002
|
NM_054027.6(ANKH):c.1357C>T (p.Arg453Trp)
|
rs761349696
|
0.00002
|
NM_054027.6(ANKH):c.1365+9G>A
|
rs771866688
|
0.00002
|
NM_054027.6(ANKH):c.600C>T (p.Gly200=)
|
rs140150501
|
0.00002
|
NM_173842.3(IL1RN):c.*303C>G
|
rs766555019
|
0.00002
|
NM_173842.3(IL1RN):c.63A>G (p.Ser21=)
|
rs763872895
|
0.00002
|
NM_000088.4(COL1A1):c.*194G>A
|
rs886053158
|
0.00001
|
NM_000088.4(COL1A1):c.*837G>A
|
rs564977858
|
0.00001
|
NM_000088.4(COL1A1):c.-115G>A
|
rs886053164
|
0.00001
|
NM_000088.4(COL1A1):c.-23G>A
|
rs200689194
|
0.00001
|
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)
|
rs72645362
|
0.00001
|
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)
|
rs1051473344
|
0.00001
|
NM_000088.4(COL1A1):c.1669-10C>A
|
rs886053162
|
0.00001
|
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=)
|
rs746453576
|
0.00001
|
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)
|
rs372044347
|
0.00001
|
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)
|
rs746671446
|
0.00001
|
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)
|
rs199514372
|
0.00001
|
NM_000088.4(COL1A1):c.3815-10C>T
|
rs770568983
|
0.00001
|
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)
|
rs763025405
|
0.00001
|
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile)
|
rs367952133
|
0.00001
|
NM_001375808.2(LPIN2):c.*1104C>T
|
rs913148654
|
0.00001
|
NM_001375808.2(LPIN2):c.*1146T>C
|
rs1384648245
|
0.00001
|
NM_001375808.2(LPIN2):c.*1239C>T
|
rs1257894281
|
0.00001
|
NM_001375808.2(LPIN2):c.*1497C>T
|
rs1321388898
|
0.00001
|
NM_001375808.2(LPIN2):c.*493G>C
|
rs886053758
|
0.00001
|
NM_001375808.2(LPIN2):c.*506C>T
|
rs886053757
|
0.00001
|
NM_001375808.2(LPIN2):c.*517G>A
|
rs760055818
|
0.00001
|
NM_001375808.2(LPIN2):c.-10+1254G>A
|
rs886053770
|
0.00001
|
NM_001375808.2(LPIN2):c.-10+1349A>G
|
rs538473680
|
0.00001
|
NM_001375808.2(LPIN2):c.1171G>A (p.Val391Ile)
|
rs886053767
|
0.00001
|
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=)
|
rs376147435
|
0.00001
|
NM_001375808.2(LPIN2):c.1839C>T (p.Leu613=)
|
rs886053766
|
0.00001
|
NM_001375808.2(LPIN2):c.2547-1G>A
|
rs145858312
|
0.00001
|
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=)
|
rs753729438
|
0.00001
|
NM_001375808.2(LPIN2):c.590+8T>G
|
rs760846327
|
0.00001
|
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=)
|
rs570485374
|
0.00001
|
NM_001375808.2(LPIN2):c.907A>C (p.Ser303Arg)
|
rs139798681
|
0.00001
|
NM_054027.6(ANKH):c.*1058C>T
|
rs886060084
|
0.00001
|
NM_054027.6(ANKH):c.*1137A>C
|
rs1451711728
|
0.00001
|
NM_054027.6(ANKH):c.*1451T>C
|
rs1224951926
|
0.00001
|
NM_054027.6(ANKH):c.*1470G>A
|
rs1161044546
|
0.00001
|
NM_054027.6(ANKH):c.*147T>A
|
rs377727408
|
0.00001
|
NM_054027.6(ANKH):c.*1894T>C
|
rs1017314538
|
0.00001
|
NM_054027.6(ANKH):c.*2428G>C
|
rs886060077
|
0.00001
|
NM_054027.6(ANKH):c.*2511C>T
|
rs575930682
|
0.00001
|
NM_054027.6(ANKH):c.*2644G>C
|
rs886060076
|
0.00001
|
NM_054027.6(ANKH):c.*2959T>C
|
rs919414377
|
0.00001
|
NM_054027.6(ANKH):c.*30C>T
|
rs772604835
|
0.00001
|
NM_054027.6(ANKH):c.*3559G>C
|
rs886060074
|
0.00001
|
NM_054027.6(ANKH):c.*3698T>A
|
rs563873078
|
0.00001
|
NM_054027.6(ANKH):c.*5062A>G
|
rs937136472
|
0.00001
|
NM_054027.6(ANKH):c.*5725G>T
|
rs187007081
|
0.00001
|
NM_054027.6(ANKH):c.*5906T>C
|
rs1423821590
|
0.00001
|
NM_054027.6(ANKH):c.*6041T>C
|
rs886060066
|
0.00001
|
NM_054027.6(ANKH):c.*700G>A
|
rs765103863
|
0.00001
|
NM_054027.6(ANKH):c.*96T>C
|
rs1561015789
|
0.00001
|
NM_054027.6(ANKH):c.1071C>T (p.Ile357=)
|
rs886060088
|
0.00001
|
NM_054027.6(ANKH):c.1278G>A (p.Ala426=)
|
rs568804732
|
0.00001
|
NM_054027.6(ANKH):c.1304C>T (p.Ala435Val)
|
rs761698657
|
0.00001
|
NM_054027.6(ANKH):c.156C>T (p.Tyr52=)
|
rs745669233
|
0.00001
|
NM_054027.6(ANKH):c.282G>A (p.Gly94=)
|
rs760249447
|
0.00001
|
NM_054027.6(ANKH):c.39G>C (p.Leu13=)
|
rs748751320
|
0.00001
|
NM_054027.6(ANKH):c.937G>A (p.Val313Met)
|
rs1490930729
|
0.00001
|
NM_173842.3(IL1RN):c.*1040G>A
|
rs886054777
|
0.00001
|
NM_173842.3(IL1RN):c.*130C>T
|
rs541642811
|
0.00001
|
NM_173842.3(IL1RN):c.*165C>T
|
rs886054773
|
0.00001
|
NM_173842.3(IL1RN):c.*245G>A
|
rs886054774
|
0.00001
|
NM_173842.3(IL1RN):c.*601C>G
|
rs572782935
|
0.00001
|
NM_000088.4(COL1A1):c.*1007_*1008del
|
rs886053144
|
|
NM_000088.4(COL1A1):c.*1026TG[1]
|
rs878983048
|
|
NM_000088.4(COL1A1):c.*1026_*1028del
|
rs751268781
|
|
NM_000088.4(COL1A1):c.*1027G>T
|
rs200882287
|
|
NM_000088.4(COL1A1):c.*1027del
|
rs878912123
|
|
NM_000088.4(COL1A1):c.*1029_*1031del
|
rs886053143
|
|
NM_000088.4(COL1A1):c.*1030_*1031del
|
rs886053142
|
|
NM_000088.4(COL1A1):c.*1045del
|
rs886053141
|
|
NM_000088.4(COL1A1):c.*1316C>G
|
rs967567610
|
|
NM_000088.4(COL1A1):c.*1324A>G
|
rs886053140
|
|
NM_000088.4(COL1A1):c.*215del
|
rs886053157
|
|
NM_000088.4(COL1A1):c.*242_*244dup
|
rs56302025
|
|
NM_000088.4(COL1A1):c.*243_*244dup
|
rs56302025
|
|
NM_000088.4(COL1A1):c.*245_*246dup
|
rs886053155
|
|
NM_000088.4(COL1A1):c.*245del
|
rs886053156
|
|
NM_000088.4(COL1A1):c.*255dup
|
rs886053153
|
|
NM_000088.4(COL1A1):c.*257_*258dup
|
rs886053152
|
|
NM_000088.4(COL1A1):c.*258dup
|
rs886053152
|
|
NM_000088.4(COL1A1):c.*259_*260insAT
|
rs886053151
|
|
NM_000088.4(COL1A1):c.*356T>A
|
rs1906365029
|
|
NM_000088.4(COL1A1):c.*437A>C
|
rs886053150
|
|
NM_000088.4(COL1A1):c.*623G>A
|
rs886053149
|
|
NM_000088.4(COL1A1):c.*681_*682insAGCA
|
rs3840870
|
|
NM_000088.4(COL1A1):c.*73C>A
|
rs1906402899
|
|
NM_000088.4(COL1A1):c.*815A>G
|
rs886053146
|
|
NM_000088.4(COL1A1):c.*88T>A
|
rs1061237
|
|
NM_000088.4(COL1A1):c.*88T>C
|
rs1061237
|
|
NM_000088.4(COL1A1):c.*998_*999del
|
rs886053145
|
|
NM_000088.4(COL1A1):c.-78_-77delinsAA
|
rs886053163
|
|
NM_000088.4(COL1A1):c.-98G>A
|
rs574683904
|
|
NM_000088.4(COL1A1):c.-98G>C
|
rs574683904
|
|
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=)
|
rs762086114
|
|
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly)
|
rs886053161
|
|
NM_000088.4(COL1A1):c.1983+9G>T
|
rs201091992
|
|
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val)
|
rs561374961
|
|
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala)
|
rs1423591325
|
|
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)
|
rs775095655
|
|
NM_000088.4(COL1A1):c.3099+7T>G
|
rs201682029
|
|
NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=)
|
rs886053160
|
|
NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His)
|
rs886053159
|
|
NM_000088.4(COL1A1):c.804+15A>C
|
rs148110802
|
|
NM_000088.4(COL1A1):c.957+15C>T
|
rs779096006
|
|
NM_001375808.2(LPIN2):c.*1179G>A
|
rs147362027
|
|
NM_001375808.2(LPIN2):c.*1199G>A
|
rs566472161
|
|
NM_001375808.2(LPIN2):c.*1220G>A
|
rs886053749
|
|
NM_001375808.2(LPIN2):c.*1417C>T
|
rs745743898
|
|
NM_001375808.2(LPIN2):c.*1473T>G
|
rs540306659
|
|
NM_001375808.2(LPIN2):c.*1494G>A
|
rs577975091
|
|
NM_001375808.2(LPIN2):c.*1504T>C
|
rs751740607
|
|
NM_001375808.2(LPIN2):c.*1514G>A
|
rs544570644
|
|
NM_001375808.2(LPIN2):c.*217G>T
|
rs886053763
|
|
NM_001375808.2(LPIN2):c.*2197_*2198del
|
rs55834965
|
|
NM_001375808.2(LPIN2):c.*2216C>A
|
rs886053746
|
|
NM_001375808.2(LPIN2):c.*2685GAAAAA[1]
|
rs777601819
|
|
NM_001375808.2(LPIN2):c.*271T>G
|
rs2077028775
|
|
NM_001375808.2(LPIN2):c.*2759A>C
|
rs886053743
|
|
NM_001375808.2(LPIN2):c.*2787C>G
|
rs886053742
|
|
NM_001375808.2(LPIN2):c.*2830C>T
|
rs886053741
|
|
NM_001375808.2(LPIN2):c.*2831CA[1]
|
rs886053740
|
|
NM_001375808.2(LPIN2):c.*2890_*2893dup
|
rs540600202
|
|
NM_001375808.2(LPIN2):c.*2924del
|
rs148191039
|
|
NM_001375808.2(LPIN2):c.*362T>C
|
rs886053760
|
|
NM_001375808.2(LPIN2):c.*493G>A
|
rs886053758
|
|
NM_001375808.2(LPIN2):c.*507T>C
|
rs886053756
|
|
NM_001375808.2(LPIN2):c.*703dup
|
rs200435334
|
|
NM_001375808.2(LPIN2):c.*723A>G
|
rs76325993
|
|
NM_001375808.2(LPIN2):c.*767A>G
|
rs886053754
|
|
NM_001375808.2(LPIN2):c.*772G>A
|
rs948592383
|
|
NM_001375808.2(LPIN2):c.*792G>C
|
rs542453339
|
|
NM_001375808.2(LPIN2):c.*796T>C
|
rs567530586
|
|
NM_001375808.2(LPIN2):c.*805C>G
|
rs146605124
|
|
NM_001375808.2(LPIN2):c.*805C>T
|
rs146605124
|
|
NM_001375808.2(LPIN2):c.*813A>C
|
rs547125074
|
|
NM_001375808.2(LPIN2):c.*855A>G
|
rs2077017832
|
|
NM_001375808.2(LPIN2):c.*90C>T
|
rs547359065
|
|
NM_001375808.2(LPIN2):c.*947dup
|
rs3840906
|
|
NM_001375808.2(LPIN2):c.-10+1354A>G
|
rs886053769
|
|
NM_001375808.2(LPIN2):c.1051G>C (p.Glu351Gln)
|
rs2077310038
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=)
|
rs2077138820
|
|
NM_001375808.2(LPIN2):c.1939-2del
|
rs745529823
|
|
NM_001375808.2(LPIN2):c.2016T>C (p.Cys672=)
|
rs2077101778
|
|
NM_001375808.2(LPIN2):c.2161C>T (p.His721Tyr)
|
rs200256485
|
|
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=)
|
rs886053765
|
|
NM_001375808.2(LPIN2):c.2573A>G (p.Glu858Gly)
|
rs2077036512
|
|
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe)
|
rs201160155
|
|
NM_001375808.2(LPIN2):c.601A>G (p.Asn201Asp)
|
rs746938405
|
|
NM_001375808.2(LPIN2):c.884A>T (p.Asn295Ile)
|
rs759046454
|
|
NM_001375808.2(LPIN2):c.932T>A (p.Val311Asp)
|
rs886053768
|
|
NM_054027.6(ANKH):c.*1192G>C
|
rs138050705
|
|
NM_054027.6(ANKH):c.*1211del
|
rs886060082
|
|
NM_054027.6(ANKH):c.*1318ATTT[1]
|
rs886060081
|
|
NM_054027.6(ANKH):c.*1354A>G
|
rs886060080
|
|
NM_054027.6(ANKH):c.*1370C>G
|
rs191464917
|
|
NM_054027.6(ANKH):c.*1372C>A
|
rs1054095058
|
|
NM_054027.6(ANKH):c.*1423G>A
|
rs572785716
|
|
NM_054027.6(ANKH):c.*1668A>C
|
rs886060079
|
|
NM_054027.6(ANKH):c.*1753C>T
|
rs1329037667
|
|
NM_054027.6(ANKH):c.*1887dup
|
rs201158874
|
|
NM_054027.6(ANKH):c.*1893dup
|
rs34294961
|
|
NM_054027.6(ANKH):c.*2113del
|
rs753413461
|
|
NM_054027.6(ANKH):c.*2243C>G
|
rs531980160
|
|
NM_054027.6(ANKH):c.*2301del
|
rs796083754
|
|
NM_054027.6(ANKH):c.*2301dup
|
rs796083754
|
|
NM_054027.6(ANKH):c.*256G>A
|
rs1265113554
|
|
NM_054027.6(ANKH):c.*2674C>A
|
rs535920930
|
|
NM_054027.6(ANKH):c.*2674C>G
|
rs535920930
|
|
NM_054027.6(ANKH):c.*3133C>A
|
rs1007599533
|
|
NM_054027.6(ANKH):c.*3224T>C
|
rs999138468
|
|
NM_054027.6(ANKH):c.*3359T>G
|
rs1736999591
|
|
NM_054027.6(ANKH):c.*3509G>C
|
rs1006427637
|
|
NM_054027.6(ANKH):c.*3664C>T
|
rs886060073
|
|
NM_054027.6(ANKH):c.*3900del
|
rs34717032
|
|
NM_054027.6(ANKH):c.*3928_*3929del
|
rs527918862
|
|
NM_054027.6(ANKH):c.*416_*419dup
|
rs142033023
|
|
NM_054027.6(ANKH):c.*4268C>A
|
rs150706862
|
|
NM_054027.6(ANKH):c.*4610C>A
|
rs1050130499
|
|
NM_054027.6(ANKH):c.*4704T>G
|
rs886060071
|
|
NM_054027.6(ANKH):c.*4777C>A
|
rs991205856
|
|
NM_054027.6(ANKH):c.*4811A>G
|
rs1736946428
|
|
NM_054027.6(ANKH):c.*5034del
|
rs541644826
|
|
NM_054027.6(ANKH):c.*5136del
|
rs577325072
|
|
NM_054027.6(ANKH):c.*5281del
|
rs34917282
|
|
NM_054027.6(ANKH):c.*5593G>C
|
rs886060070
|
|
NM_054027.6(ANKH):c.*5895C>G
|
rs141264056
|
|
NM_054027.6(ANKH):c.*5898G>A
|
rs886060069
|
|
NM_054027.6(ANKH):c.*5912del
|
rs765143871
|
|
NM_054027.6(ANKH):c.*5912dup
|
rs765143871
|
|
NM_054027.6(ANKH):c.*5980C>A
|
rs943017719
|
|
NM_054027.6(ANKH):c.*6368G>A
|
rs1238103899
|
|
NM_054027.6(ANKH):c.*643T>C
|
rs886060087
|
|
NM_054027.6(ANKH):c.*712G>C
|
rs370243294
|
|
NM_054027.6(ANKH):c.*921A>G
|
rs886060085
|
|
NM_054027.6(ANKH):c.*939_*942dup
|
rs71603731
|
|
NM_054027.6(ANKH):c.-128_-80delinsCGC
|
rs886060203
|
|
NM_054027.6(ANKH):c.-291CCG[5]
|
rs531421951
|
|
NM_054027.6(ANKH):c.-291CCG[6]
|
rs531421951
|
|
NM_054027.6(ANKH):c.-291CCG[8]
|
rs531421951
|
|
NM_054027.6(ANKH):c.-291CCG[9]
|
rs531421951
|
|
NM_054027.6(ANKH):c.-80GTCGCCCC[1]
|
rs139106733
|
|
NM_054027.6(ANKH):c.-80_-79insC
|
rs886060201
|
|
NM_054027.6(ANKH):c.-87T>A
|
rs886060204
|
|
NM_054027.6(ANKH):c.-89_-80delinsTC
|
rs886060202
|
|
NM_054027.6(ANKH):c.585C>T (p.Leu195=)
|
rs200216941
|
|
NM_054027.6(ANKH):c.897G>A (p.Val299=)
|
rs748349350
|
|
NM_054027.6(ANKH):c.97-9C>T
|
rs1739348689
|
|
NM_173841.2(IL1RN):c.*1145A>G
|
rs886054779
|
|
NM_173841.2(IL1RN):c.-87G>A
|
rs2234677
|
|
NM_173842.3(IL1RN):c.*1049A>G
|
rs886054778
|
|
NM_173842.3(IL1RN):c.*1070T>G
|
rs1687262003
|
|
NM_173842.3(IL1RN):c.*290T>A
|
rs1687235105
|
|
NM_173842.3(IL1RN):c.*350C>G
|
rs1687237466
|
|
NM_173842.3(IL1RN):c.*369T>A
|
rs886054775
|
|
NM_173842.3(IL1RN):c.*490del
|
rs565976240
|
|
NM_173842.3(IL1RN):c.*691del
|
rs4252029
|
|
NM_173842.3(IL1RN):c.166G>A (p.Val56Ile)
|
rs557348234
|
|
NM_173842.3(IL1RN):c.205+8G>A
|
rs762763281
|
|
NM_173842.3(IL1RN):c.318+12C>G
|
rs561872655
|
|