ClinVar Miner

List of variants studied for bone inflammation disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 622
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HGVS dbSNP gnomAD frequency
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

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