ClinVar Miner

List of variants in gene OTOF studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1747
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.1804-190T>C rs6719195 0.98468
NM_194248.3(OTOF):c.227+143A>G rs10865425 0.95295
NM_194248.3(OTOF):c.509+282G>A rs4665867 0.88920
NM_194248.3(OTOF):c.328-313G>A rs11126533 0.85519
NM_194248.3(OTOF):c.227+55C>T rs1879760 0.68796
NM_194248.3(OTOF):c.711-49A>C rs6547079 0.64085
NM_194248.3(OTOF):c.897+169T>C rs939814 0.62444
NM_194248.3(OTOF):c.2214+319A>G rs1815040 0.62280
NM_194248.3(OTOF):c.3126+208C>G rs4427975 0.61780
NM_194248.3(OTOF):c.2215-291G>C rs6749978 0.58942
NM_194248.3(OTOF):c.4090+252A>G rs4665326 0.57421
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_194248.3(OTOF):c.509+39A>T rs7575020 0.51850
NM_194248.3(OTOF):c.1206-126A>G rs4665328 0.46895
NM_194248.3(OTOF):c.2215-83C>T rs4665855 0.46217
NM_194248.3(OTOF):c.3126+277C>T rs4458167 0.42252
NM_194248.3(OTOF):c.2991+100C>A rs6712188 0.39500
NM_194248.3(OTOF):c.3864+244T>C rs6743467 0.38510
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35770
NM_194248.3(OTOF):c.80-281G>A rs1522100 0.34814
NM_194248.3(OTOF):c.79+114C>G rs4665880 0.33988
NM_194248.3(OTOF):c.4023+246A>G rs34796712 0.33736
NC_000002.12:g.26558897G>A rs7556908 0.32523
NM_194248.3(OTOF):c.227+280G>C rs56246466 0.31748
NM_194248.3(OTOF):c.766-238G>A rs34780859 0.30772
NM_194248.3(OTOF):c.510-39C>T rs884390 0.30697
NM_194248.3(OTOF):c.765+180T>C rs7589019 0.24956
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696 0.23539
NM_194248.3(OTOF):c.4500+317G>A rs7576373 0.20776
NM_194248.3(OTOF):c.1045+250G>T rs12052886 0.19409
NM_194248.3(OTOF):c.*17+230A>G rs4416176 0.11860
NM_194248.3(OTOF):c.710+123A>G rs7592534 0.11364
NM_194248.3(OTOF):c.2214+50C>T rs61323419 0.11309
NM_194248.3(OTOF):c.3894+22G>A rs2272072 0.08941
NM_194248.3(OTOF):c.328-59T>C rs55682147 0.08917
NM_194248.3(OTOF):c.5533+67G>A rs2280512 0.07816
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_194248.3(OTOF):c.79+250C>T rs10177332 0.07338
NM_194248.3(OTOF):c.1205+209T>C rs10184906 0.07153
NM_194248.3(OTOF):c.2406+36G>A rs56284635 0.06680
NM_194248.3(OTOF):c.5534-108A>G rs9808099 0.06482
NM_194248.3(OTOF):c.1046-92A>T rs55763868 0.06437
NM_194248.3(OTOF):c.1046-248G>A rs55838869 0.06341
NM_194248.3(OTOF):c.4091-151G>A rs59761427 0.05213
NM_194248.3(OTOF):c.138+28T>G rs13398223 0.04775
NM_194248.3(OTOF):c.1393-67C>A rs74802025 0.04606
NM_194248.3(OTOF):c.*696A>G rs55744034 0.04541
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04497
NM_194248.3(OTOF):c.*697G>A rs60182448 0.04365
NM_194248.3(OTOF):c.2829C>T (p.Gly943=) rs73920285 0.03958
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071 0.03875
NM_194248.3(OTOF):c.2703G>A (p.Ser901=) rs4997760 0.03814
NM_194248.3(OTOF):c.*372C>T rs56025829 0.03793
NM_194248.3(OTOF):c.4090+94C>T rs56265746 0.03786
NM_194248.3(OTOF):c.3864+33G>A rs41286015 0.03766
NM_194248.3(OTOF):c.3864+49G>A rs41286013 0.03764
NM_194248.3(OTOF):c.327+70C>A rs78296411 0.03755
NM_194248.3(OTOF):c.139-188C>T rs55970371 0.03704
NM_194248.3(OTOF):c.509+10A>G rs76712142 0.03505
NM_194248.3(OTOF):c.2613C>T (p.Leu871=) rs2272068 0.03420
NM_194248.3(OTOF):c.2402A>T (p.Glu801Val) rs61739883 0.03338
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter) rs75624587 0.03330
NM_194248.3(OTOF):c.3127-285G>A rs4328596 0.03252
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.03226
NM_194248.3(OTOF):c.4800-203T>C rs72853723 0.03111
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.02894
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_194248.3(OTOF):c.766-3C>T rs55886964 0.02560
NM_194248.3(OTOF):c.328-164T>C rs111736770 0.02469
NM_194248.3(OTOF):c.3734-172G>A rs114834581 0.02432
NM_194248.3(OTOF):c.3865-167C>T rs114410533 0.02428
NM_194248.3(OTOF):c.4341G>A (p.Glu1447=) rs80214437 0.02415
NM_194248.3(OTOF):c.898-102T>C rs78947900 0.02365
NM_194248.3(OTOF):c.-120G>T rs114469860 0.02194
NM_194248.3(OTOF):c.3289-85C>A rs116154138 0.02130
NM_194248.3(OTOF):c.960+141C>G rs41288775 0.02129
NM_194248.3(OTOF):c.*18-30G>A rs72853717 0.01865
NM_194248.3(OTOF):c.4501-139C>A rs73920283 0.01795
NM_194248.3(OTOF):c.129C>T (p.Asp43=) rs116525289 0.01764
NM_194248.3(OTOF):c.138+75G>A rs74640183 0.01741
NM_194248.3(OTOF):c.960+109C>T rs41288777 0.01711
NM_194248.3(OTOF):c.1580-96C>T rs72853743 0.01662
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01584
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01576
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_194248.3(OTOF):c.2215-598T>C rs115637687 0.01543
NM_194248.3(OTOF):c.4961-188T>C rs144387283 0.01541
NM_194248.3(OTOF):c.4960+261C>A rs114674395 0.01531
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574 0.01529
NM_194248.3(OTOF):c.510-83C>T rs78380906 0.01519
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=) rs61747275 0.01514
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573 0.01502
NM_194248.3(OTOF):c.4799+16G>A rs60083916 0.01490
NM_194248.3(OTOF):c.-67G>A rs13422586 0.01481
NM_194248.3(OTOF):c.3126+302C>A rs148216359 0.01470
NM_194248.3(OTOF):c.80-244A>C rs80346263 0.01388
NM_194248.3(OTOF):c.1393-227C>T rs58099956 0.01359
NM_194248.3(OTOF):c.80-128G>C rs77131099 0.01328
NM_194248.3(OTOF):c.-113G>A rs79734645 0.01288
NM_194248.3(OTOF):c.4629-9C>T rs72853726 0.01237
NM_194248.3(OTOF):c.327+159C>T rs116403205 0.01157
NM_194248.3(OTOF):c.1205+84C>T rs116336271 0.00945
NM_194248.3(OTOF):c.5533+129del rs199877130 0.00930
NM_194248.3(OTOF):c.3895-76C>T rs72853731 0.00902
NM_194248.3(OTOF):c.5814-121G>A rs79926468 0.00894
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00866
NM_194248.3(OTOF):c.2214+260C>T rs111446456 0.00866
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00845
NM_194248.3(OTOF):c.*440T>C rs112949167 0.00823
NM_194248.3(OTOF):c.139-276G>A rs112064342 0.00803
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00782
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_194248.3(OTOF):c.584-133T>C rs74803594 0.00725
NM_194248.3(OTOF):c.328-202T>C rs137989597 0.00714
NC_000002.12:g.26558839C>T rs150483734 0.00678
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00669
NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln) rs111033329 0.00669
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877 0.00596
NM_194248.3(OTOF):c.1580-117T>G rs114573472 0.00589
NM_194248.3(OTOF):c.4799+173C>G rs111976163 0.00550
NM_194248.3(OTOF):c.3733+39C>T rs113651936 0.00546
NM_194248.3(OTOF):c.*17+47G>A rs76552018 0.00528
NM_194248.3(OTOF):c.1804-236C>A rs186993381 0.00523
NM_194248.3(OTOF):c.2992-84G>A rs137906608 0.00466
NM_194248.3(OTOF):c.3471G>T (p.Arg1157=) rs61742191 0.00446
NM_194248.3(OTOF):c.2215-19C>G rs111033427 0.00434
NM_194248.3(OTOF):c.1913-21T>C rs74336925 0.00433
NM_194248.3(OTOF):c.1580-34C>T rs57350577 0.00427
NM_194323.3(OTOF):c.3621G>A (p.Leu1207=) rs73920281 0.00417
NM_194248.3(OTOF):c.3076A>T (p.Arg1026Trp) rs145239283 0.00413
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000 0.00412
NM_194248.3(OTOF):c.327+276C>G rs78950422 0.00381
NM_194248.3(OTOF):c.4023+328G>A rs142406713 0.00370
NM_194248.3(OTOF):c.228-16C>T rs147889840 0.00356
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_194248.3(OTOF):c.3864+214A>G rs375191459 0.00331
NM_194248.3(OTOF):c.*220C>T rs72853716 0.00324
NM_194248.3(OTOF):c.3864+40T>C rs74748719 0.00314
NM_194248.3(OTOF):c.1579+19G>A rs192297517 0.00313
NM_194248.3(OTOF):c.1580-6C>T rs114260271 0.00309
NM_194248.3(OTOF):c.42G>A (p.Arg14=) rs6734111 0.00308
NM_194248.3(OTOF):c.898-263G>A rs142091986 0.00306
NM_194248.3(OTOF):c.3734-10A>C rs73920284 0.00297
NM_194248.3(OTOF):c.1580-7G>T rs116430138 0.00290
NM_194248.3(OTOF):c.4091-47C>A rs191528263 0.00283
NM_194248.3(OTOF):c.366C>T (p.Asp122=) rs61747283 0.00269
NM_194248.3(OTOF):c.79+28G>A rs144623968 0.00268
NM_194248.3(OTOF):c.960+25G>A rs139859221 0.00265
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00259
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_194248.3(OTOF):c.37C>T (p.Leu13=) rs76180450 0.00203
NM_194248.3(OTOF):c.4227+40G>C rs373866176 0.00196
NM_194248.3(OTOF):c.509+11G>A rs200010052 0.00196
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_194248.3(OTOF):c.4800-11C>T rs41286009 0.00186
NM_194248.3(OTOF):c.1045+38A>G rs116307055 0.00177
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn) rs138151478 0.00168
NM_194248.3(OTOF):c.4980C>T (p.Asp1660=) rs149549554 0.00164
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val) rs138037294 0.00139
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_194248.3(OTOF):c.5418C>T (p.Ile1806=) rs116990436 0.00121
NM_194248.3(OTOF):c.3734-13T>C rs368329882 0.00113
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_194248.3(OTOF):c.4628+18C>T rs56018216 0.00098
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr) rs62641623 0.00097
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_194248.3(OTOF):c.-43T>A rs201812205 0.00093
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00091
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_194248.3(OTOF):c.3385G>A (p.Val1129Met) rs138249243 0.00089
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_194248.3(OTOF):c.2215-155A>G rs143933877 0.00076
NM_194248.3(OTOF):c.2076G>T (p.Arg692=) rs138769870 0.00073
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_194248.3(OTOF):c.4961-12C>T rs200764184 0.00061
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_194248.3(OTOF):c.2407-17C>T rs111706333 0.00055
NM_194248.3(OTOF):c.237G>A (p.Gly79=) rs117985483 0.00052
NM_194248.3(OTOF):c.1020C>T (p.Asp340=) rs138250704 0.00048
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln) rs184605839 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=) rs151005752 0.00044
NM_194248.3(OTOF):c.894C>T (p.Asn298=) rs112794890 0.00044
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00042
NM_194248.3(OTOF):c.1116C>T (p.Tyr372=) rs147595264 0.00040
NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser) rs145588516 0.00040
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746 0.00040
NM_194248.3(OTOF):c.1708C>T (p.Leu570=) rs138474867 0.00039
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00039
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=) rs150691499 0.00039
NM_194248.3(OTOF):c.2093+19C>T rs377667674 0.00038
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242 0.00036
NM_194248.3(OTOF):c.80-5C>T rs531034566 0.00036
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr) rs144594692 0.00035
NM_194248.3(OTOF):c.898-6C>G rs199687628 0.00035
NM_194248.3(OTOF):c.1912+29G>A rs190749704 0.00033
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302 0.00032
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00031
NM_194248.3(OTOF):c.2859C>T (p.Val953=) rs77414333 0.00031
NM_194248.3(OTOF):c.1135G>A (p.Val379Met) rs141111646 0.00029
NM_194248.3(OTOF):c.3679C>A (p.Arg1227=) rs111033478 0.00027
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_194248.3(OTOF):c.2664G>A (p.Thr888=) rs112230402 0.00026
NM_194248.3(OTOF):c.506G>A (p.Arg169Gln) rs149701372 0.00026
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327 0.00025
NM_194248.3(OTOF):c.5402C>T (p.Ala1801Val) rs764563570 0.00025
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp) rs144259658 0.00024
NM_194248.3(OTOF):c.327+5G>T rs370643920 0.00024
NM_194248.3(OTOF):c.3127-5G>A rs375186827 0.00022
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_194248.3(OTOF):c.1506G>A (p.Ser502=) rs199713499 0.00019
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_194248.3(OTOF):c.327+10C>A rs377042002 0.00019
NM_194248.3(OTOF):c.5826G>A (p.Thr1942=) rs111033353 0.00019
NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu) rs200699092 0.00018
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00018
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209 0.00018
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661 0.00018
NM_194323.3(OTOF):c.3563A>G (p.Lys1188Arg) rs867287930 0.00017
NM_194248.3(OTOF):c.1035C>T (p.Tyr345=) rs138885901 0.00016
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) rs200654171 0.00016
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys) rs150070091 0.00016
NM_194248.3(OTOF):c.3894+16A>G rs200561465 0.00016
NM_194248.3(OTOF):c.5196C>T (p.Tyr1732=) rs138681366 0.00016
NM_194248.3(OTOF):c.5505G>A (p.Ala1835=) rs368190044 0.00016
NM_194248.3(OTOF):c.593C>T (p.Ala198Val) rs757909285 0.00016
NM_194248.3(OTOF):c.377G>A (p.Gly126Asp) rs187033414 0.00015
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575 0.00015
NM_194248.3(OTOF):c.595G>T (p.Val199Leu) rs148105063 0.00015
NM_194248.3(OTOF):c.1393-12C>T rs201631405 0.00014
NM_194248.3(OTOF):c.2575C>T (p.Arg859Cys) rs199603169 0.00014
NM_194248.3(OTOF):c.2787G>T (p.Leu929=) rs140874810 0.00014
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00014
NM_194248.3(OTOF):c.5814-7A>T rs375395837 0.00014
NM_194248.3(OTOF):c.79+12G>A rs201241987 0.00014
NM_194248.3(OTOF):c.2622C>T (p.Ile874=) rs150497386 0.00013
NM_194248.3(OTOF):c.340G>A (p.Val114Met) rs376117319 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_194248.3(OTOF):c.1791G>A (p.Thr597=) rs369375897 0.00012
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_194248.3(OTOF):c.2733G>A (p.Glu911=) rs376443083 0.00012
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.1912+17C>T rs780815430 0.00011
NM_194248.3(OTOF):c.1977G>A (p.Pro659=) rs145589784 0.00011
NM_194248.3(OTOF):c.328-11C>T rs369879663 0.00011
NM_194248.3(OTOF):c.417T>C (p.Leu139=) rs1488787367 0.00011
NM_194248.3(OTOF):c.4363-6G>A rs199567872 0.00011
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val) rs144562626 0.00011
NM_194248.3(OTOF):c.961-25G>A rs144587424 0.00011
NM_194248.3(OTOF):c.1570G>A (p.Gly524Arg) rs146739635 0.00010
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 0.00010
NM_194248.3(OTOF):c.234C>T (p.Ile78=) rs201753818 0.00010
NM_194248.3(OTOF):c.2523+17C>T rs370384447 0.00010
NM_194248.3(OTOF):c.4408C>T (p.Arg1470Trp) rs141084986 0.00010
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn) rs139201321 0.00010
NM_194248.3(OTOF):c.5813+14C>T rs375156335 0.00010
NM_194248.3(OTOF):c.5813+15G>A rs371649088 0.00010
NM_194248.3(OTOF):c.642T>C (p.Asp214=) rs141378029 0.00010
NM_194248.3(OTOF):c.735G>A (p.Glu245=) rs200500659 0.00010
NM_194248.3(OTOF):c.783C>T (p.Ile261=) rs556182666 0.00010
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg) rs146615166 0.00009
NM_194248.3(OTOF):c.3711G>A (p.Ser1237=) rs141973547 0.00009
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln) rs200312028 0.00009
NM_194248.3(OTOF):c.4227+1G>T rs397515601 0.00009
NM_194248.3(OTOF):c.4500+14C>T rs370657974 0.00009
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601 0.00009
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln) rs141800430 0.00009
NM_194248.3(OTOF):c.5292-8G>A rs376238464 0.00009
NM_194248.3(OTOF):c.5523C>T (p.Asp1841=) rs145894536 0.00009
NM_194248.3(OTOF):c.5820C>T (p.Pro1940=) rs765678871 0.00009
NM_194248.3(OTOF):c.1393-15T>G rs577397456 0.00008
NM_194248.3(OTOF):c.1522G>A (p.Val508Met) rs530494158 0.00008
NM_194248.3(OTOF):c.2094-17G>A rs750895106 0.00008
NM_194248.3(OTOF):c.2406+19G>A rs191746690 0.00008
NM_194248.3(OTOF):c.4087G>A (p.Glu1363Lys) rs769620123 0.00008
NM_194248.3(OTOF):c.4138G>A (p.Glu1380Lys) rs753311693 0.00008
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_194248.3(OTOF):c.5713-6C>T rs757092054 0.00008
NM_194248.3(OTOF):c.710+18C>T rs368274322 0.00008
NM_194248.3(OTOF):c.1105C>A (p.Leu369Met) rs377328873 0.00007
NM_194248.3(OTOF):c.1134C>T (p.Ala378=) rs542735691 0.00007
NM_194248.3(OTOF):c.1569C>T (p.Asp523=) rs111440869 0.00007
NM_194248.3(OTOF):c.1803+10C>T rs146455437 0.00007
NM_194248.3(OTOF):c.1976C>T (p.Pro659Leu) rs201783245 0.00007
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp) rs2272070 0.00007
NM_194248.3(OTOF):c.2516C>T (p.Ala839Val) rs201246660 0.00007
NM_194248.3(OTOF):c.296C>T (p.Thr99Met) rs555829802 0.00007
NM_194248.3(OTOF):c.322A>G (p.Ile108Val) rs727505189 0.00007
NM_194248.3(OTOF):c.4459A>G (p.Asn1487Asp) rs376771750 0.00007
NM_194248.3(OTOF):c.4484G>A (p.Arg1495Gln) rs201067193 0.00007
NM_194248.3(OTOF):c.5403G>A (p.Ala1801=) rs777088497 0.00007
NM_194248.3(OTOF):c.5419G>A (p.Val1807Ile) rs141443396 0.00007
NM_194248.3(OTOF):c.5985C>T (p.Leu1995=) rs200269526 0.00007
NM_194248.3(OTOF):c.788C>T (p.Ala263Val) rs1013661076 0.00007
NM_194248.3(OTOF):c.843C>T (p.Asp281=) rs368728682 0.00007
NM_194248.3(OTOF):c.1071C>A (p.Ala357=) rs767723798 0.00006
NM_194248.3(OTOF):c.1371A>G (p.Gln457=) rs763865079 0.00006
NM_194248.3(OTOF):c.1579+14G>C rs376216223 0.00006
NM_194248.3(OTOF):c.169G>A (p.Asp57Asn) rs754784459 0.00006
NM_194248.3(OTOF):c.1804-20T>A rs559791845 0.00006
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_194248.3(OTOF):c.2702C>T (p.Ser901Leu) rs200599474 0.00006
NM_194248.3(OTOF):c.3480C>T (p.Ile1160=) rs375349663 0.00006
NM_194248.3(OTOF):c.447G>A (p.Thr149=) rs151257291 0.00006
NM_194248.3(OTOF):c.4853G>A (p.Arg1618His) rs764799194 0.00006
NM_194248.3(OTOF):c.5004G>A (p.Leu1668=) rs373224736 0.00006
NM_194248.3(OTOF):c.5610C>T (p.Thr1870=) rs141119917 0.00006
NM_194248.3(OTOF):c.5673C>T (p.Pro1891=) rs368716091 0.00006
NM_194248.3(OTOF):c.776C>T (p.Thr259Met) rs577873453 0.00006
NM_194248.3(OTOF):c.926C>T (p.Pro309Leu) rs574070900 0.00006
NM_194248.3(OTOF):c.959C>T (p.Ser320Leu) rs371666216 0.00006
NM_194248.3(OTOF):c.*18-7T>G rs1340070288 0.00005
NM_194248.3(OTOF):c.1163C>T (p.Thr388Met) rs751650771 0.00005
NM_194248.3(OTOF):c.1388A>G (p.Gln463Arg) rs553904559 0.00005
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe) rs150834957 0.00005
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393 0.00005
NM_194248.3(OTOF):c.2100C>T (p.Tyr700=) rs779284596 0.00005
NM_194248.3(OTOF):c.2316-18G>A rs747941829 0.00005
NM_194248.3(OTOF):c.2332G>A (p.Ala778Thr) rs754243402 0.00005
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile) rs752804141 0.00005
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_194248.3(OTOF):c.2925C>T (p.Ala975=) rs750609773 0.00005
NM_194248.3(OTOF):c.2926G>A (p.Asp976Asn) rs148042715 0.00005
NM_194248.3(OTOF):c.2991+20G>T rs539358225 0.00005
NM_194248.3(OTOF):c.3428G>A (p.Arg1143Gln) rs1330253297 0.00005
NM_194248.3(OTOF):c.3464G>A (p.Arg1155Gln) rs532405862 0.00005
NM_194248.3(OTOF):c.3571-19C>A rs754873126 0.00005
NM_194248.3(OTOF):c.3754C>T (p.Arg1252Cys) rs551826797 0.00005
NM_194248.3(OTOF):c.3861C>T (p.Asp1287=) rs147552283 0.00005
NM_194248.3(OTOF):c.3865-12G>A rs374902867 0.00005
NM_194248.3(OTOF):c.3888G>A (p.Val1296=) rs753038809 0.00005
NM_194248.3(OTOF):c.394G>T (p.Asp132Tyr) rs1446905823 0.00005
NM_194248.3(OTOF):c.409G>A (p.Glu137Lys) rs576401026 0.00005
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840 0.00005
NM_194248.3(OTOF):c.4249T>G (p.Ser1417Ala) rs369235766 0.00005
NM_194248.3(OTOF):c.4252G>A (p.Glu1418Lys) rs200144841 0.00005
NM_194248.3(OTOF):c.4289A>G (p.Asn1430Ser) rs146572730 0.00005
NM_194248.3(OTOF):c.4417G>A (p.Gly1473Ser) rs371051158 0.00005
NM_194248.3(OTOF):c.4500+11C>T rs727503353 0.00005
NM_194248.3(OTOF):c.4776C>T (p.Cys1592=) rs372324595 0.00005
NM_194248.3(OTOF):c.4790C>T (p.Thr1597Ile) rs769398304 0.00005
NM_194248.3(OTOF):c.4799+9G>A rs201679575 0.00005
NM_194248.3(OTOF):c.5477C>T (p.Ala1826Val) rs377197565 0.00005
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00005
NM_194248.3(OTOF):c.840T>A (p.Gly280=) rs149069369 0.00005
NM_194248.3(OTOF):c.960G>A (p.Ser320=) rs141463872 0.00005
NM_194248.3(OTOF):c.1149G>C (p.Gly383=) rs142219516 0.00004
NM_194248.3(OTOF):c.1198A>G (p.Ile400Val) rs369416370 0.00004
NM_194248.3(OTOF):c.1221C>T (p.Pro407=) rs727504716 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_194248.3(OTOF):c.1620C>T (p.Tyr540=) rs149357083 0.00004
NM_194248.3(OTOF):c.1724T>C (p.Val575Ala) rs908148532 0.00004
NM_194248.3(OTOF):c.1800G>A (p.Ser600=) rs397517936 0.00004
NM_194248.3(OTOF):c.2148C>T (p.Ser716=) rs369870336 0.00004
NM_194248.3(OTOF):c.2316-29C>T rs376176080 0.00004
NM_194248.3(OTOF):c.2406+8C>T rs745420966 0.00004
NM_194248.3(OTOF):c.2419C>A (p.Gln807Lys) rs750423841 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_194248.3(OTOF):c.2877G>A (p.Ala959=) rs111033424 0.00004
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797 0.00004
NM_194248.3(OTOF):c.302T>C (p.Ile101Thr) rs754508360 0.00004
NM_194248.3(OTOF):c.3149G>A (p.Arg1050Gln) rs371487098 0.00004
NM_194248.3(OTOF):c.3238C>T (p.Arg1080Cys) rs368151410 0.00004
NM_194248.3(OTOF):c.327+16G>A rs201851221 0.00004
NM_194248.3(OTOF):c.328-16G>A rs199976848 0.00004
NM_194248.3(OTOF):c.3339C>T (p.Asp1113=) rs758021674 0.00004
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414 0.00004
NM_194248.3(OTOF):c.3707G>A (p.Arg1236His) rs368633281 0.00004
NM_194248.3(OTOF):c.3755G>A (p.Arg1252His) rs201532334 0.00004
NM_194248.3(OTOF):c.3973A>T (p.Met1325Leu) rs139231840 0.00004
NM_194248.3(OTOF):c.4092C>G (p.Gly1364=) rs779854387 0.00004
NM_194248.3(OTOF):c.4185C>T (p.Ser1395=) rs148819838 0.00004
NM_194248.3(OTOF):c.4307C>T (p.Thr1436Ile) rs41286011 0.00004
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met) rs749384668 0.00004
NM_194248.3(OTOF):c.4500+12G>A rs375084445 0.00004
NM_194248.3(OTOF):c.4505C>T (p.Thr1502Met) rs201330496 0.00004
NM_194248.3(OTOF):c.4799+12A>G rs758452423 0.00004
NM_194248.3(OTOF):c.4924G>A (p.Val1642Ile) rs146552124 0.00004
NM_194248.3(OTOF):c.5280C>T (p.Ile1760=) rs752628451 0.00004
NM_194248.3(OTOF):c.5460C>T (p.Thr1820=) rs148749290 0.00004
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp) rs368155547 0.00004
NM_194248.3(OTOF):c.637G>A (p.Gly213Arg) rs989209365 0.00004
NM_194248.3(OTOF):c.641A>G (p.Asp214Gly) rs773263831 0.00004
NM_194248.3(OTOF):c.711-18G>A rs761983219 0.00004
NM_194248.3(OTOF):c.752C>T (p.Pro251Leu) rs145758459 0.00004
NM_194248.3(OTOF):c.961-18T>C rs748001144 0.00004
NM_194248.3(OTOF):c.1045+12C>T rs761253981 0.00003
NM_194248.3(OTOF):c.1087G>A (p.Asp363Asn) rs766575009 0.00003
NM_194248.3(OTOF):c.1164G>A (p.Thr388=) rs1261962398 0.00003
NM_194248.3(OTOF):c.1186G>A (p.Asp396Asn) rs760394336 0.00003
NM_194248.3(OTOF):c.1236C>T (p.Pro412=) rs369368105 0.00003
NM_194248.3(OTOF):c.1253G>A (p.Arg418Gln) rs751460409 0.00003
NM_194248.3(OTOF):c.1335C>T (p.Ile445=) rs749521853 0.00003
NM_194248.3(OTOF):c.138+16C>T rs376894247 0.00003
NM_194248.3(OTOF):c.1447G>A (p.Val483Ile) rs777361556 0.00003
NM_194248.3(OTOF):c.1505C>T (p.Ser502Leu) rs373654311 0.00003
NM_194248.3(OTOF):c.1552C>T (p.Arg518Cys) rs141279323 0.00003
NM_194248.3(OTOF):c.1580-10A>G rs369178398 0.00003
NM_194248.3(OTOF):c.1681G>A (p.Glu561Lys) rs751835146 0.00003
NM_194248.3(OTOF):c.1699G>A (p.Ala567Thr) rs771560305 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.1912+18G>A rs565109436 0.00003
NM_194248.3(OTOF):c.1955G>A (p.Arg652Gln) rs142370721 0.00003
NM_194248.3(OTOF):c.1963C>T (p.Pro655Ser) rs376509813 0.00003
NM_194248.3(OTOF):c.1967G>A (p.Arg656Gln) rs541334463 0.00003
NM_194248.3(OTOF):c.2039G>A (p.Gly680Glu) rs751952710 0.00003
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn) rs147657016 0.00003
NM_194248.3(OTOF):c.2168G>A (p.Arg723His) rs754009907 0.00003
NM_194248.3(OTOF):c.229C>T (p.Leu77Phe) rs368178451 0.00003
NM_194248.3(OTOF):c.2316-19C>T rs771170200 0.00003
NM_194248.3(OTOF):c.2361C>T (p.Arg787=) rs768064141 0.00003
NM_194248.3(OTOF):c.2407-5C>T rs766374350 0.00003
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln) rs373681505 0.00003
NM_194248.3(OTOF):c.2520C>T (p.Asp840=) rs147061068 0.00003
NM_194248.3(OTOF):c.2551A>T (p.Ile851Phe) rs779619788 0.00003
NM_194248.3(OTOF):c.2649C>T (p.Cys883=) rs397515593 0.00003
NM_194248.3(OTOF):c.2716G>A (p.Val906Met) rs1481727245 0.00003
NM_194248.3(OTOF):c.2847C>T (p.Pro949=) rs756600365 0.00003
NM_194248.3(OTOF):c.3124A>G (p.Met1042Val) rs727505142 0.00003
NM_194248.3(OTOF):c.3183C>T (p.Asp1061=) rs752458492 0.00003
NM_194248.3(OTOF):c.3279G>A (p.Glu1093=) rs768780126 0.00003
NM_194248.3(OTOF):c.328-17C>T rs758796419 0.00003
NM_194248.3(OTOF):c.3501G>A (p.Val1167=) rs147574223 0.00003
NM_194248.3(OTOF):c.3570+19G>A rs748519111 0.00003
NM_194248.3(OTOF):c.3571G>T (p.Asp1191Tyr) rs772807679 0.00003
NM_194248.3(OTOF):c.3667G>A (p.Val1223Ile) rs571712315 0.00003
NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp) rs749458515 0.00003
NM_194248.3(OTOF):c.3733+6G>C rs769983044 0.00003
NM_194248.3(OTOF):c.3745C>T (p.Arg1249Trp) rs778205630 0.00003
NM_194248.3(OTOF):c.3864+8G>A rs753836357 0.00003
NM_194248.3(OTOF):c.387C>T (p.Asp129=) rs761367436 0.00003
NM_194248.3(OTOF):c.3938C>T (p.Ala1313Val) rs143650036 0.00003
NM_194248.3(OTOF):c.4063G>A (p.Glu1355Lys) rs183309645 0.00003
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys) rs745399096 0.00003
NM_194248.3(OTOF):c.4328C>T (p.Ser1443Phe) rs148506633 0.00003
NM_194248.3(OTOF):c.4343G>A (p.Arg1448His) rs373858563 0.00003
NM_194248.3(OTOF):c.4434C>T (p.Tyr1478=) rs201996175 0.00003
NM_194248.3(OTOF):c.4551C>T (p.Ile1517=) rs746457837 0.00003
NM_194248.3(OTOF):c.4629-8C>A rs201723469 0.00003
NM_194248.3(OTOF):c.4674G>A (p.Thr1558=) rs751556362 0.00003
NM_194248.3(OTOF):c.4782C>T (p.Ile1594=) rs765847178 0.00003
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr) rs772763082 0.00003
NM_194248.3(OTOF):c.4809C>T (p.Tyr1603=) rs143939430 0.00003
NM_194248.3(OTOF):c.4846C>T (p.Leu1616=) rs751330974 0.00003
NM_194248.3(OTOF):c.4866C>T (p.Asp1622=) rs761285412 0.00003
NM_194248.3(OTOF):c.4908G>A (p.Val1636=) rs769992835 0.00003
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244 0.00003
NM_194248.3(OTOF):c.4953C>T (p.Asp1651=) rs62127667 0.00003
NM_194248.3(OTOF):c.4993C>T (p.Leu1665=) rs1255865173 0.00003
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_194248.3(OTOF):c.509+20T>C rs376600099 0.00003
NM_194248.3(OTOF):c.5256C>T (p.Phe1752=) rs367558375 0.00003
NM_194248.3(OTOF):c.52G>A (p.Asp18Asn) rs376856990 0.00003
NM_194248.3(OTOF):c.5517C>T (p.Ser1839=) rs778803983 0.00003
NM_194248.3(OTOF):c.5520del (p.Asp1841fs) rs767479112 0.00003
NM_194248.3(OTOF):c.5541C>T (p.Ile1847=) rs748846283 0.00003
NM_194248.3(OTOF):c.5712+5G>A rs750175033 0.00003
NM_194248.3(OTOF):c.5713-2A>G rs111033455 0.00003
NM_194248.3(OTOF):c.5814-8T>C rs368970760 0.00003
NM_194248.3(OTOF):c.5864G>A (p.Arg1955His) rs746943889 0.00003
NM_194248.3(OTOF):c.594G>A (p.Ala198=) rs141271513 0.00003
NM_194248.3(OTOF):c.631C>T (p.Arg211Trp) rs138720253 0.00003
NM_194248.3(OTOF):c.660G>A (p.Ser220=) rs745785393 0.00003
NM_194248.3(OTOF):c.710+11G>A rs372861260 0.00003
NM_194248.3(OTOF):c.766-11C>T rs1026794229 0.00003
NM_194248.3(OTOF):c.76C>T (p.Arg26Ter) rs145208539 0.00003
NM_194248.3(OTOF):c.79+11C>T rs755017310 0.00003
NM_194248.3(OTOF):c.80-18T>C rs188970385 0.00003
NM_194248.3(OTOF):c.828C>T (p.Cys276=) rs111033447 0.00003
NM_194248.3(OTOF):c.909C>T (p.Phe303=) rs369727158 0.00003
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln) rs201326023 0.00003
NM_194323.3(OTOF):c.3674A>G (p.Lys1225Arg) rs750669994 0.00003
NM_194248.3(OTOF):c.1016T>C (p.Met339Thr) rs746069316 0.00002
NM_194248.3(OTOF):c.1029C>T (p.Thr343=) rs780931457 0.00002
NM_194248.3(OTOF):c.120T>C (p.Asp40=) rs928448199 0.00002
NM_194248.3(OTOF):c.1353C>T (p.Leu451=) rs1039974977 0.00002
NM_194248.3(OTOF):c.1464C>A (p.Phe488Leu) rs755519159 0.00002
NM_194248.3(OTOF):c.1489G>A (p.Val497Met) rs144012583 0.00002
NM_194248.3(OTOF):c.1498C>T (p.Arg500Ter) rs773543852 0.00002
NM_194248.3(OTOF):c.156G>A (p.Val52=) rs369307357 0.00002
NM_194248.3(OTOF):c.1579+9C>T rs770761461 0.00002
NM_194248.3(OTOF):c.1668C>T (p.Asn556=) rs890818825 0.00002
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln) rs397517934 0.00002
NM_194248.3(OTOF):c.173G>A (p.Arg58Lys) rs201067363 0.00002
NM_194248.3(OTOF):c.1878C>T (p.Asn626=) rs200614188 0.00002
NM_194248.3(OTOF):c.1998C>T (p.Asp666=) rs775458801 0.00002
NM_194248.3(OTOF):c.2010C>T (p.Asn670=) rs374029967 0.00002
NM_194248.3(OTOF):c.2094-18C>T rs758860602 0.00002
NM_194248.3(OTOF):c.2171G>A (p.Arg724His) rs550283736 0.00002
NM_194248.3(OTOF):c.227+2T>C rs1344409792 0.00002
NM_194248.3(OTOF):c.227+7G>T rs1264410147 0.00002
NM_194248.3(OTOF):c.2376G>A (p.Arg792=) rs142933937 0.00002
NM_194248.3(OTOF):c.2453G>A (p.Arg818Gln) rs748844952 0.00002
NM_194248.3(OTOF):c.2517G>A (p.Ala839=) rs773993511 0.00002
NM_194248.3(OTOF):c.2523+14G>A rs569410600 0.00002
NM_194248.3(OTOF):c.2553C>T (p.Ile851=) rs1348824501 0.00002
NM_194248.3(OTOF):c.2688G>A (p.Lys896=) rs886038757 0.00002
NM_194248.3(OTOF):c.2689C>T (p.Arg897Trp) rs768666917 0.00002
NM_194248.3(OTOF):c.2764C>T (p.Arg922Cys) rs754280163 0.00002
NM_194248.3(OTOF):c.2781C>T (p.Cys927=) rs199804573 0.00002
NM_194248.3(OTOF):c.2882A>G (p.Gln961Arg) rs1358025747 0.00002
NM_194248.3(OTOF):c.2903A>G (p.Gln968Arg) rs755408329 0.00002
NM_194248.3(OTOF):c.2955C>T (p.Ala985=) rs773861501 0.00002
NM_194248.3(OTOF):c.3080A>G (p.Asp1027Gly) rs774506833 0.00002
NM_194248.3(OTOF):c.3081C>T (p.Asp1027=) rs139027901 0.00002
NM_194248.3(OTOF):c.3101T>C (p.Ile1034Thr) rs779785339 0.00002
NM_194248.3(OTOF):c.3174G>A (p.Lys1058=) rs199931485 0.00002
NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His) rs150782952 0.00002
NM_194248.3(OTOF):c.3239G>A (p.Arg1080His) rs397515598 0.00002
NM_194248.3(OTOF):c.3246C>T (p.Asn1082=) rs780758132 0.00002
NM_194248.3(OTOF):c.328-18C>T rs780608069 0.00002
NM_194248.3(OTOF):c.3321C>T (p.Pro1107=) rs373313654 0.00002
NM_194248.3(OTOF):c.3379C>T (p.Arg1127Trp) rs918324092 0.00002
NM_194248.3(OTOF):c.3390C>T (p.Leu1130=) rs917428828 0.00002
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00002
NM_194248.3(OTOF):c.3408+10C>T rs779260026 0.00002
NM_194248.3(OTOF):c.3424C>T (p.Leu1142=) rs764113587 0.00002
NM_194248.3(OTOF):c.3439C>T (p.Arg1147Trp) rs760487390 0.00002
NM_194248.3(OTOF):c.3570+13C>T rs952601472 0.00002
NM_194248.3(OTOF):c.3600G>A (p.Pro1200=) rs149725703 0.00002
NM_194248.3(OTOF):c.3720C>T (p.Ser1240=) rs914180720 0.00002
NM_194248.3(OTOF):c.3864+20C>G rs1048886045 0.00002
NM_194248.3(OTOF):c.3894+12G>A rs200458304 0.00002
NM_194248.3(OTOF):c.3933C>T (p.Gly1311=) rs146500587 0.00002
NM_194248.3(OTOF):c.3981C>T (p.Asp1327=) rs368148776 0.00002
NM_194248.3(OTOF):c.4086C>T (p.Thr1362=) rs950656119 0.00002
NM_194248.3(OTOF):c.4342C>T (p.Arg1448Cys) rs727503355 0.00002
NM_194248.3(OTOF):c.4362+16C>T rs1664766002 0.00002
NM_194248.3(OTOF):c.4416C>T (p.Ala1472=) rs145597315 0.00002
NM_194248.3(OTOF):c.4581C>T (p.Arg1527=) rs560125081 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_194248.3(OTOF):c.4771A>G (p.Thr1591Ala) rs752497265 0.00002
NM_194248.3(OTOF):c.4852C>T (p.Arg1618Cys) rs150131683 0.00002
NM_194248.3(OTOF):c.4923C>T (p.Arg1641=) rs778803978 0.00002
NM_194248.3(OTOF):c.4961-14G>A rs763615710 0.00002
NM_194248.3(OTOF):c.509+17C>T rs774011460 0.00002
NM_194248.3(OTOF):c.510-9C>A rs199789769 0.00002
NM_194248.3(OTOF):c.5202G>A (p.Leu1734=) rs770579181 0.00002
NM_194248.3(OTOF):c.5220C>T (p.Asn1740=) rs374605824 0.00002
NM_194248.3(OTOF):c.5244C>T (p.Asp1748=) rs780139913 0.00002
NM_194248.3(OTOF):c.5355C>T (p.Gly1785=) rs145914599 0.00002
NM_194248.3(OTOF):c.5455G>A (p.Glu1819Lys) rs538506086 0.00002
NM_194248.3(OTOF):c.5476G>A (p.Ala1826Thr) rs774994611 0.00002
NM_194248.3(OTOF):c.5553G>C (p.Leu1851=) rs747844017 0.00002
NM_194248.3(OTOF):c.5621A>T (p.Asp1874Val) rs1207009239 0.00002
NM_194248.3(OTOF):c.5634G>A (p.Val1878=) rs753852011 0.00002
NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter) rs747471303 0.00002
NM_194248.3(OTOF):c.5711C>T (p.Thr1904Met) rs551267412 0.00002
NM_194248.3(OTOF):c.5712+20C>T rs937795943 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_194248.3(OTOF):c.5858C>T (p.Ser1953Leu) rs1250079687 0.00002
NM_194248.3(OTOF):c.5903A>G (p.Lys1968Arg) rs754090877 0.00002
NM_194248.3(OTOF):c.632G>A (p.Arg211Gln) rs111033535 0.00002
NM_194248.3(OTOF):c.654C>T (p.Pro218=) rs761399081 0.00002
NM_194248.3(OTOF):c.777G>A (p.Thr259=) rs1401778820 0.00002
NM_194248.3(OTOF):c.897+18G>T rs748338388 0.00002
NM_194248.3(OTOF):c.969C>T (p.His323=) rs773824437 0.00002
NM_194248.3(OTOF):c.1032G>A (p.Val344=) rs149018719 0.00001
NM_194248.3(OTOF):c.1038G>A (p.Ser346=) rs750046776 0.00001
NM_194248.3(OTOF):c.103C>T (p.Leu35=) rs1572488741 0.00001
NM_194248.3(OTOF):c.1045+15A>G rs1424432437 0.00001
NM_194248.3(OTOF):c.1045+2T>G rs111033341 0.00001
NM_194248.3(OTOF):c.1046-16C>G rs778181260 0.00001
NM_194248.3(OTOF):c.1086C>T (p.Pro362=) rs751807922 0.00001
NM_194248.3(OTOF):c.1100C>T (p.Ser367Leu) rs200985159 0.00001
NM_194248.3(OTOF):c.1128C>T (p.Asp376=) rs745434989 0.00001
NM_194248.3(OTOF):c.1188C>T (p.Asp396=) rs775260480 0.00001
NM_194248.3(OTOF):c.1206-20C>T rs200785748 0.00001
NM_194248.3(OTOF):c.1209C>T (p.Asn403=) rs1369409876 0.00001
NM_194248.3(OTOF):c.1227G>A (p.Gly409=) rs886055879 0.00001
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter) rs397515582 0.00001
NM_194248.3(OTOF):c.1284G>C (p.Gly428=) rs761591189 0.00001
NM_194248.3(OTOF):c.1328C>T (p.Ala443Val) rs184754106 0.00001
NM_194248.3(OTOF):c.1366G>A (p.Val456Met) rs753282692 0.00001
NM_194248.3(OTOF):c.138+7G>A rs1023630788 0.00001
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter) rs1403112959 0.00001
NM_194248.3(OTOF):c.1518C>T (p.Asn506=) rs747202669 0.00001
NM_194248.3(OTOF):c.1521C>T (p.Asp507=) rs774317620 0.00001
NM_194248.3(OTOF):c.1536C>T (p.Thr512=) rs2465272454 0.00001
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 0.00001
NM_194248.3(OTOF):c.1551G>C (p.Leu517=) rs780419826 0.00001
NM_194248.3(OTOF):c.1579+10G>A rs1474403464 0.00001
NM_194248.3(OTOF):c.1579+12G>A rs1417607799 0.00001
NM_194248.3(OTOF):c.1579+18C>T rs769672010 0.00001
NM_194248.3(OTOF):c.1580-18T>C rs770116268 0.00001
NM_194248.3(OTOF):c.1594C>T (p.Leu532=) rs746214256 0.00001
NM_194248.3(OTOF):c.1599C>A (p.Gly533=) rs572088556 0.00001
NM_194248.3(OTOF):c.159C>T (p.Ala53=) rs1390265040 0.00001
NM_194248.3(OTOF):c.1614C>A (p.Asn538Lys) rs111033350 0.00001
NM_194248.3(OTOF):c.1694T>C (p.Phe565Ser) rs1310233073 0.00001
NM_194248.3(OTOF):c.1731C>T (p.Ile577=) rs1254490910 0.00001
NM_194248.3(OTOF):c.1803+8C>T rs770753743 0.00001
NM_194248.3(OTOF):c.1804-12G>A rs1665497944 0.00001
NM_194248.3(OTOF):c.1812A>T (p.Ala604=) rs1325398888 0.00001
NM_194248.3(OTOF):c.1836C>T (p.Leu612=) rs1156764622 0.00001
NM_194248.3(OTOF):c.185T>C (p.Leu62Pro) rs761506005 0.00001
NM_194248.3(OTOF):c.1869C>T (p.Asp623=) rs770291513 0.00001
NM_194248.3(OTOF):c.1884C>T (p.Asp628=) rs1363815003 0.00001
NM_194248.3(OTOF):c.1891A>T (p.Ile631Phe) rs765083847 0.00001
NM_194248.3(OTOF):c.1893C>A (p.Ile631=) rs746095139 0.00001
NM_194248.3(OTOF):c.1905C>T (p.Val635=) rs1182431736 0.00001
NM_194248.3(OTOF):c.1912G>T (p.Gly638Cys) rs1131691297 0.00001
NM_194248.3(OTOF):c.1930G>A (p.Val644Ile) rs727505153 0.00001
NM_194248.3(OTOF):c.1935T>C (p.Asp645=) rs770863220 0.00001
NM_194248.3(OTOF):c.2015G>A (p.Ser672Asn) rs1262248055 0.00001
NM_194248.3(OTOF):c.2028C>T (p.Ala676=) rs752294415 0.00001
NM_194248.3(OTOF):c.2058C>T (p.Ser686=) rs1665463626 0.00001
NM_194248.3(OTOF):c.2064T>C (p.Thr688=) rs1172003222 0.00001
NM_194248.3(OTOF):c.2082G>T (p.Gln694His) rs1665462160 0.00001
NM_194248.3(OTOF):c.2088C>T (p.Thr696=) rs774172709 0.00001
NM_194248.3(OTOF):c.2094-20C>T rs1416657150 0.00001
NM_194248.3(OTOF):c.2106T>A (p.His702Gln) rs764458682 0.00001
NM_194248.3(OTOF):c.2157G>A (p.Pro719=) rs140161941 0.00001
NM_194248.3(OTOF):c.2169C>G (p.Arg723=) rs1156349669 0.00001
NM_194248.3(OTOF):c.2187C>T (p.Asn729=) rs762870100 0.00001
NM_194248.3(OTOF):c.21C>A (p.Leu7=) rs545316807 0.00001
NM_194248.3(OTOF):c.2205C>T (p.Ala735=) rs761710670 0.00001
NM_194248.3(OTOF):c.2211G>A (p.Lys737=) rs532708159 0.00001
NM_194248.3(OTOF):c.2214+17G>A rs1431351487 0.00001
NM_194248.3(OTOF):c.222C>G (p.Ser74Arg) rs764474318 0.00001
NM_194248.3(OTOF):c.224A>G (p.Asn75Ser) rs775875524 0.00001
NM_194248.3(OTOF):c.226A>T (p.Lys76Ter) rs772565732 0.00001
NM_194248.3(OTOF):c.227+12A>G rs397517938 0.00001
NM_194248.3(OTOF):c.227+14G>A rs2148112879 0.00001
NM_194248.3(OTOF):c.228-14del rs1259713103 0.00001
NM_194248.3(OTOF):c.228-17C>T rs771162266 0.00001
NM_194248.3(OTOF):c.2316-13G>A rs555778976 0.00001
NM_194248.3(OTOF):c.2316-14C>T rs369796499 0.00001
NM_194248.3(OTOF):c.2316-4C>T rs727503358 0.00001
NM_194248.3(OTOF):c.2331C>T (p.Leu777=) rs778491732 0.00001
NM_194248.3(OTOF):c.2364C>T (p.Thr788=) rs759592138 0.00001
NM_194248.3(OTOF):c.2406+10C>T rs373468327 0.00001
NM_194248.3(OTOF):c.2406+7A>G rs1438220210 0.00001
NM_194248.3(OTOF):c.2406+9G>A rs397517939 0.00001
NM_194248.3(OTOF):c.2437C>T (p.Arg813Trp) rs775183780 0.00001
NM_194248.3(OTOF):c.2438G>A (p.Arg813Gln) rs767282723 0.00001
NM_194248.3(OTOF):c.2457C>T (p.His819=) rs772678450 0.00001
NM_194248.3(OTOF):c.248T>C (p.Met83Thr) rs752266635 0.00001
NM_194248.3(OTOF):c.2505G>A (p.Leu835=) rs1255996872 0.00001
NM_194248.3(OTOF):c.251T>C (p.Val84Ala) rs727505096 0.00001
NM_194248.3(OTOF):c.2521G>A (p.Glu841Lys) rs772729658 0.00001
NM_194248.3(OTOF):c.2523+15G>A rs1179496946 0.00001
NM_194248.3(OTOF):c.2524-15C>T rs765157921 0.00001
NM_194248.3(OTOF):c.2524-17C>T rs750294894 0.00001
NM_194248.3(OTOF):c.2541C>T (p.Pro847=) rs1350998876 0.00001
NM_194248.3(OTOF):c.2576G>A (p.Arg859His) rs761627839 0.00001
NM_194248.3(OTOF):c.2583C>T (p.Ala861=) rs767261797 0.00001
NM_194248.3(OTOF):c.2615T>C (p.Phe872Ser) rs773354262 0.00001
NM_194248.3(OTOF):c.2629G>A (p.Glu877Lys) rs201726560 0.00001
NM_194248.3(OTOF):c.2676+10G>C rs727503356 0.00001
NM_194248.3(OTOF):c.2677-9C>T rs765705879 0.00001
NM_194248.3(OTOF):c.2679G>T (p.Leu893=) rs776717915 0.00001
NM_194248.3(OTOF):c.2685G>A (p.Gly895=) rs1289742459 0.00001
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684 0.00001
NM_194248.3(OTOF):c.2691G>A (p.Arg897=) rs1221803843 0.00001
NM_194248.3(OTOF):c.2742G>A (p.Leu914=) rs1321273453 0.00001
NM_194248.3(OTOF):c.2748G>A (p.Leu916=) rs762324037 0.00001
NM_194248.3(OTOF):c.2808C>T (p.Val936=) rs372096755 0.00001
NM_194248.3(OTOF):c.2862C>T (p.Tyr954=) rs774779725 0.00001
NM_194248.3(OTOF):c.2923G>A (p.Ala975Thr) rs200142505 0.00001
NM_194248.3(OTOF):c.2949C>T (p.Pro983=) rs200246317 0.00001
NM_194248.3(OTOF):c.2972A>G (p.Asn991Ser) rs397517940 0.00001
NM_194248.3(OTOF):c.297G>A (p.Thr99=) rs397517941 0.00001
NM_194248.3(OTOF):c.2991+1G>A rs80356594 0.00001
NM_194248.3(OTOF):c.2991+6G>A rs969944898 0.00001
NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser) rs764594629 0.00001
NM_194248.3(OTOF):c.3075G>A (p.Leu1025=) rs1236818216 0.00001
NM_194248.3(OTOF):c.3087G>A (p.Pro1029=) rs746829542 0.00001
NM_194248.3(OTOF):c.3108C>A (p.Ile1036=) rs1665199463 0.00001
NM_194248.3(OTOF):c.3126+14C>T rs756782265 0.00001
NM_194248.3(OTOF):c.3126+8T>G rs1665198509 0.00001
NM_194248.3(OTOF):c.3148C>T (p.Arg1050Trp) rs142557342 0.00001
NM_194248.3(OTOF):c.3156C>T (p.Phe1052=) rs397517942 0.00001
NM_194248.3(OTOF):c.3202C>T (p.Arg1068Cys) rs1471267138 0.00001
NM_194248.3(OTOF):c.3219C>T (p.Leu1073=) rs1665164783 0.00001
NM_194248.3(OTOF):c.3220G>A (p.Glu1074Lys) rs768889857 0.00001
NM_194248.3(OTOF):c.3269C>T (p.Ala1090Val) rs370609551 0.00001
NM_194248.3(OTOF):c.327+11C>G rs1372291857 0.00001
NM_194248.3(OTOF):c.327+15C>T rs557912723 0.00001
NM_194248.3(OTOF):c.327+2T>G rs772344220 0.00001
NM_194248.3(OTOF):c.3270G>A (p.Ala1090=) rs761919034 0.00001
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) rs1064795233 0.00001
NM_194248.3(OTOF):c.3282G>A (p.Leu1094=) rs1184886748 0.00001
NM_194248.3(OTOF):c.3285G>A (p.Leu1095=) rs1215425402 0.00001
NM_194248.3(OTOF):c.3286C>T (p.Gln1096Ter) rs1665160360 0.00001
NM_194248.3(OTOF):c.3289-1G>C rs757708948 0.00001
NM_194248.3(OTOF):c.3346C>T (p.Arg1116Ter) rs891583660 0.00001
NM_194248.3(OTOF):c.3347G>A (p.Arg1116Gln) rs1368394139 0.00001
NM_194248.3(OTOF):c.3348A>G (p.Arg1116=) rs572579351 0.00001
NM_194248.3(OTOF):c.3362C>T (p.Pro1121Leu) rs779205233 0.00001
NM_194248.3(OTOF):c.3370A>G (p.Met1124Val) rs554314437 0.00001
NM_194248.3(OTOF):c.3399C>A (p.Tyr1133Ter) rs1665126718 0.00001
NM_194248.3(OTOF):c.33G>A (p.Ser11=) rs767580121 0.00001
NM_194248.3(OTOF):c.3408+5G>A rs760279912 0.00001
NM_194248.3(OTOF):c.3409-1G>C rs541334347 0.00001
NM_194248.3(OTOF):c.342G>C (p.Val114=) rs762682915 0.00001
NM_194248.3(OTOF):c.3441G>T (p.Arg1147=) rs1337109046 0.00001
NM_194248.3(OTOF):c.3469C>T (p.Arg1157Trp) rs749687326 0.00001
NM_194248.3(OTOF):c.3549_3550insAA (p.Leu1184fs) rs746469117 0.00001
NM_194248.3(OTOF):c.3552C>T (p.Leu1184=) rs199622489 0.00001
NM_194248.3(OTOF):c.3571-14C>T rs751077062 0.00001
NM_194248.3(OTOF):c.3571-6C>A rs397517944 0.00001
NM_194248.3(OTOF):c.3571-9A>C rs1572420832 0.00001
NM_194248.3(OTOF):c.3585C>T (p.Asn1195=) rs1338036516 0.00001
NM_194248.3(OTOF):c.3599C>T (p.Pro1200Leu) rs762316974 0.00001
NM_194248.3(OTOF):c.3621G>A (p.Val1207=) rs1665084488 0.00001
NM_194248.3(OTOF):c.3627C>T (p.Cys1209=) rs1358983177 0.00001
NM_194248.3(OTOF):c.3636C>T (p.Phe1212=) rs779056035 0.00001
NM_194248.3(OTOF):c.3641G>A (p.Arg1214His) rs751557477 0.00001
NM_194248.3(OTOF):c.3642C>A (p.Arg1214=) rs1665082542 0.00001
NM_194248.3(OTOF):c.3666C>T (p.Ala1222=) rs993201496 0.00001
NM_194248.3(OTOF):c.3680G>A (p.Arg1227Gln) rs759559737 0.00001
NM_194248.3(OTOF):c.3682C>T (p.Arg1228Cys) rs774452184 0.00001
NM_194248.3(OTOF):c.3683G>A (p.Arg1228His) rs553313212 0.00001
NM_194248.3(OTOF):c.3693C>T (p.Tyr1231=) rs771150660 0.00001
NM_194248.3(OTOF):c.3697C>T (p.Pro1233Ser) rs768506241 0.00001
NM_194248.3(OTOF):c.3705C>G (p.Asp1235Glu) rs758305199 0.00001
NM_194248.3(OTOF):c.3727A>G (p.Thr1243Ala) rs1319705634 0.00001
NM_194248.3(OTOF):c.3733+1G>A rs773465087 0.00001
NM_194248.3(OTOF):c.3734-14A>C rs372484533 0.00001
NM_194248.3(OTOF):c.3734-18A>G rs930056044 0.00001
NM_194248.3(OTOF):c.3734-20C>G rs771959117 0.00001
NM_194248.3(OTOF):c.3744C>T (p.Leu1248=) rs1665047376 0.00001
NM_194248.3(OTOF):c.3748C>T (p.Arg1250Cys) rs780704826 0.00001
NM_194248.3(OTOF):c.3789C>T (p.Ser1263=) rs774236055 0.00001
NM_194248.3(OTOF):c.3810T>A (p.Thr1270=) rs747582086 0.00001
NM_194248.3(OTOF):c.383G>A (p.Trp128Ter) rs1200977386 0.00001
NM_194248.3(OTOF):c.3864+10G>T rs760936806 0.00001
NM_194248.3(OTOF):c.3864+19G>A rs373069230 0.00001
NM_194248.3(OTOF):c.3864+1G>A rs758918226 0.00001
NM_194248.3(OTOF):c.3864+3A>G rs753010779 0.00001
NM_194248.3(OTOF):c.3865-19C>T rs752574922 0.00001
NM_194248.3(OTOF):c.3865-8C>T rs1462081059 0.00001
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn) rs774929350 0.00001
NM_194248.3(OTOF):c.391G>A (p.Gly131Arg) rs752935927 0.00001
NM_194248.3(OTOF):c.4006A>G (p.Ile1336Val) rs766952985 0.00001
NM_194248.3(OTOF):c.4023+7C>T rs370239223 0.00001
NM_194248.3(OTOF):c.4023+8C>T rs1368102623 0.00001
NM_194248.3(OTOF):c.402G>A (p.Leu134=) rs767664276 0.00001
NM_194248.3(OTOF):c.4090+11G>A rs1167133235 0.00001
NM_194248.3(OTOF):c.4101G>A (p.Gly1367=) rs1664789091 0.00001
NM_194248.3(OTOF):c.4141G>A (p.Glu1381Lys) rs575722396 0.00001
NM_194248.3(OTOF):c.4188G>A (p.Glu1396=) rs778498978 0.00001
NM_194248.3(OTOF):c.4194C>T (p.Pro1398=) rs749026372 0.00001
NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys) rs777285104 0.00001
NM_194248.3(OTOF):c.4227+16C>A rs1664781485 0.00001
NM_194248.3(OTOF):c.4227+5G>C rs571671530 0.00001
NM_194248.3(OTOF):c.4230A>G (p.Val1410=) rs1664775117 0.00001
NM_194248.3(OTOF):c.4245G>A (p.Leu1415=) rs1172296369 0.00001
NM_194248.3(OTOF):c.4251C>T (p.Ser1417=) rs374893840 0.00001
NM_194248.3(OTOF):c.4291T>C (p.Leu1431=) rs748986644 0.00001
NM_194248.3(OTOF):c.4308C>G (p.Thr1436=) rs558685914 0.00001
NM_194248.3(OTOF):c.4320G>A (p.Glu1440=) rs867938979 0.00001
NM_194248.3(OTOF):c.4333G>A (p.Glu1445Lys) rs1443534731 0.00001
NM_194248.3(OTOF):c.4338G>A (p.Glu1446=) rs754868039 0.00001
NM_194248.3(OTOF):c.4362+17G>A rs775761790 0.00001
NM_194248.3(OTOF):c.4374C>T (p.Cys1458=) rs771419284 0.00001
NM_194248.3(OTOF):c.4377G>T (p.Val1459=) rs374209343 0.00001
NM_194248.3(OTOF):c.4409G>A (p.Arg1470Gln) rs757116157 0.00001
NM_194248.3(OTOF):c.4422C>T (p.Tyr1474=) rs767174554 0.00001
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn) rs759839598 0.00001
NM_194248.3(OTOF):c.4428C>T (p.Ser1476=) rs1003565620 0.00001
NM_194248.3(OTOF):c.4462G>A (p.Asp1488Asn) rs183627999 0.00001
NM_194248.3(OTOF):c.4474G>A (p.Val1492Met) rs368297003 0.00001
NM_194248.3(OTOF):c.4499G>A (p.Arg1500Gln) rs766918362 0.00001
NM_194248.3(OTOF):c.4500+10C>A rs544653934 0.00001
NM_194248.3(OTOF):c.4500+15G>A rs1197434865 0.00001
NM_194248.3(OTOF):c.4501-16C>T rs1216380530 0.00001
NM_194248.3(OTOF):c.4501-4C>G rs1350950630 0.00001
NM_194248.3(OTOF):c.4501-6T>C rs1664714651 0.00001
NM_194248.3(OTOF):c.4506G>A (p.Thr1502=) rs776988630 0.00001
NM_194248.3(OTOF):c.4530C>T (p.Asn1510=) rs772232170 0.00001
NM_194248.3(OTOF):c.4536A>G (p.Lys1512=) rs377545045 0.00001
NM_194248.3(OTOF):c.4549A>C (p.Ile1517Leu) rs142333327 0.00001
NM_194248.3(OTOF):c.4572T>C (p.Thr1524=) rs764485972 0.00001
NM_194248.3(OTOF):c.4629-11C>T rs369341965 0.00001
NM_194248.3(OTOF):c.4629-7C>T rs778647395 0.00001
NM_194248.3(OTOF):c.4683G>A (p.Val1561=) rs750647996 0.00001
NM_194248.3(OTOF):c.4722G>A (p.Gly1574=) rs759146769 0.00001
NM_194248.3(OTOF):c.4734C>T (p.Ile1578=) rs748951588 0.00001
NM_194248.3(OTOF):c.4746C>T (p.Asn1582=) rs748464989 0.00001
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His) rs139416718 0.00001
NM_194248.3(OTOF):c.4759A>T (p.Lys1587Ter) rs2465523922 0.00001
NM_194248.3(OTOF):c.4764C>T (p.His1588=) rs758504052 0.00001
NM_194248.3(OTOF):c.4799+2T>C rs747539519 0.00001
NM_194248.3(OTOF):c.4824C>T (p.Asp1608=) rs1389336561 0.00001
NM_194248.3(OTOF):c.4845C>T (p.Ile1615=) rs754753052 0.00001
NM_194248.3(OTOF):c.4878C>T (p.Asp1626=) rs397517947 0.00001
NM_194248.3(OTOF):c.4885C>A (p.His1629Asn) rs774994239 0.00001
NM_194248.3(OTOF):c.4892G>A (p.Gly1631Glu) rs771174697 0.00001
NM_194248.3(OTOF):c.490G>T (p.Gly164Ter) rs1337721316 0.00001
NM_194248.3(OTOF):c.4918A>G (p.Asn1640Asp) rs779960084 0.00001
NM_194248.3(OTOF):c.4938C>T (p.Pro1646=) rs1369548341 0.00001
NM_194248.3(OTOF):c.494A>T (p.Glu165Val) rs202011111 0.00001
NM_194248.3(OTOF):c.495G>A (p.Glu165=) rs1489807848 0.00001
NM_194248.3(OTOF):c.4960+12C>T rs371116849 0.00001
NM_194248.3(OTOF):c.4961-15C>T rs767008483 0.00001
NM_194248.3(OTOF):c.4961-6C>T rs1212171652 0.00001
NM_194248.3(OTOF):c.4981G>A (p.Glu1661Lys) rs894098325 0.00001
NM_194248.3(OTOF):c.4992G>A (p.Ala1664=) rs749312946 0.00001
NM_194248.3(OTOF):c.5013G>A (p.Trp1671Ter) rs1461208460 0.00001
NM_194248.3(OTOF):c.501C>A (p.Ser167Arg) rs373055869 0.00001
NM_194248.3(OTOF):c.510-19C>T rs1666182432 0.00001
NM_194248.3(OTOF):c.510-1G>A rs147151719 0.00001
NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp) rs1172714485 0.00001
NM_194248.3(OTOF):c.5229G>A (p.Glu1743=) rs200001730 0.00001
NM_194248.3(OTOF):c.5247C>T (p.Asp1749=) rs1340855486 0.00001
NM_194248.3(OTOF):c.5323G>C (p.Asp1775His) rs776992000 0.00001
NM_194248.3(OTOF):c.5349C>T (p.Leu1783=) rs774746986 0.00001
NM_194248.3(OTOF):c.5364C>T (p.Asn1788=) rs775796192 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194248.3(OTOF):c.5388C>T (p.Pro1796=) rs757933573 0.00001
NM_194248.3(OTOF):c.5454C>T (p.Asp1818=) rs759644549 0.00001
NM_194248.3(OTOF):c.5461G>A (p.Glu1821Lys) rs756694424 0.00001
NM_194248.3(OTOF):c.5467A>G (p.Lys1823Glu) rs369848891 0.00001
NM_194248.3(OTOF):c.5478G>A (p.Ala1826=) rs1228133247 0.00001
NM_194248.3(OTOF):c.5502T>C (p.Asp1834=) rs878924676 0.00001
NM_194248.3(OTOF):c.5518G>A (p.Ala1840Thr) rs771088478 0.00001
NM_194248.3(OTOF):c.5533+1G>A rs1171095987 0.00001
NM_194248.3(OTOF):c.5565G>A (p.Pro1855=) rs539110171 0.00001
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln) rs397515608 0.00001
NM_194248.3(OTOF):c.5571C>T (p.Gly1857=) rs1301178911 0.00001
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985 0.00001
NM_194248.3(OTOF):c.5616G>A (p.Glu1872=) rs1490345470 0.00001
NM_194248.3(OTOF):c.5622C>T (p.Asp1874=) rs1378428614 0.00001
NM_194248.3(OTOF):c.5628C>T (p.Pro1876=) rs149495515 0.00001
NM_194248.3(OTOF):c.5631C>T (p.Leu1877=) rs779430342 0.00001
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892 0.00001
NM_194248.3(OTOF):c.5652G>A (p.Lys1884=) rs752959986 0.00001
NM_194248.3(OTOF):c.5654G>A (p.Arg1885His) rs1470759825 0.00001
NM_194248.3(OTOF):c.5674C>A (p.Leu1892Ile) rs761420437 0.00001
NM_194248.3(OTOF):c.5684G>A (p.Arg1895His) rs776338254 0.00001
NM_194248.3(OTOF):c.5700G>A (p.Glu1900=) rs143325189 0.00001
NM_194248.3(OTOF):c.5712+14C>T rs761905987 0.00001
NM_194248.3(OTOF):c.5712+6C>G rs200435099 0.00001
NM_194248.3(OTOF):c.5718G>A (p.Lys1906=) rs1435262691 0.00001
NM_194248.3(OTOF):c.5766C>T (p.Asn1922=) rs1289093763 0.00001
NM_194248.3(OTOF):c.5776C>A (p.Leu1926Met) rs763255437 0.00001
NM_194248.3(OTOF):c.5785A>C (p.Asn1929His) rs896148523 0.00001
NM_194248.3(OTOF):c.5812_5813+2del rs1443400614 0.00001
NM_194248.3(OTOF):c.5814-14C>A rs755835380 0.00001
NM_194248.3(OTOF):c.5814-6C>T rs780944069 0.00001
NM_194248.3(OTOF):c.584-11A>C rs558198759 0.00001
NM_194248.3(OTOF):c.5859G>T (p.Ser1953=) rs202127439 0.00001
NM_194248.3(OTOF):c.5868C>A (p.Tyr1956Ter) rs727504937 0.00001
NM_194248.3(OTOF):c.5904A>G (p.Lys1968=) rs1421209250 0.00001
NM_194248.3(OTOF):c.5916C>T (p.Leu1972=) rs753228900 0.00001
NM_194248.3(OTOF):c.591G>A (p.Pro197=) rs779916426 0.00001
NM_194248.3(OTOF):c.5937C>T (p.Leu1979=) rs371591669 0.00001
NM_194248.3(OTOF):c.600G>A (p.Leu200=) rs756952748 0.00001
NM_194248.3(OTOF):c.670G>T (p.Ala224Ser) rs756684403 0.00001
NM_194248.3(OTOF):c.691A>G (p.Thr231Ala) rs556493936 0.00001
NM_194248.3(OTOF):c.710+13G>T rs866012956 0.00001
NM_194248.3(OTOF):c.711-9C>G rs754022528 0.00001
NM_194248.3(OTOF):c.750G>A (p.Arg250=) rs1238190736 0.00001
NM_194248.3(OTOF):c.766-20C>T rs773159159 0.00001
NM_194248.3(OTOF):c.786G>A (p.Glu262=) rs1665946861 0.00001
NM_194248.3(OTOF):c.798G>A (p.Leu266=) rs757338234 0.00001
NM_194248.3(OTOF):c.80-15C>T rs1487527833 0.00001
NM_194248.3(OTOF):c.870G>A (p.Glu290=) rs1665944146 0.00001
NM_194248.3(OTOF):c.87C>T (p.Ser29=) rs1353469833 0.00001
NM_194248.3(OTOF):c.904G>A (p.Val302Ile) rs147435768 0.00001
NM_194248.3(OTOF):c.948C>T (p.Ile316=) rs532270730 0.00001
NM_194248.3(OTOF):c.960+13C>A rs1470906713 0.00001
NM_194248.3(OTOF):c.960+17C>T rs766748630 0.00001
NM_194248.3(OTOF):c.961-11C>G rs754393603 0.00001
NM_194248.3(OTOF):c.964A>T (p.Ile322Phe) rs1010169261 0.00001
NM_194248.3(OTOF):c.978C>T (p.Asn326=) rs750843731 0.00001
NM_194248.3(OTOF):c.981G>A (p.Leu327=) rs1484166482 0.00001
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp) rs530821443 0.00001
NM_194323.3(OTOF):c.3522C>T (p.Asp1174=) rs945370352 0.00001
NM_194323.3(OTOF):c.3531C>T (p.Phe1177=) rs548065731 0.00001
NM_194323.3(OTOF):c.3615G>A (p.Ala1205=) rs201594507 0.00001
NC_000002.11:g.(?_26680908)_(26683918_?)del
NC_000002.11:g.(?_26680908)_(26760662_?)del
NC_000002.11:g.(?_26680908)_(26781439_?)del
NC_000002.11:g.(?_26686812)_(26691362_?)del
NC_000002.11:g.(?_26695367)_(26741997_?)dup
NC_000002.11:g.(?_26698207)_(26726733_?)dup
NC_000002.11:g.(?_26699834)_(26701396_?)del
NC_000002.11:g.(?_26706310)_(26707521_?)del
NC_000002.11:g.(?_26707322)_(26707521_?)del
NC_000002.11:g.(?_26712059)_(26750808_?)dup
NC_000002.11:g.(?_26717790)_(26726733_?)dup
NC_000002.11:g.(?_26760564)_(26760662_?)del
NC_000002.11:g.(?_26781341)_(26781439_?)del
NC_000002.12:g.26558819TG[9] rs10552648
NM_194248.3(OTOF):c.*17+143_*17+144insCG rs574991484
NM_194248.3(OTOF):c.*17+59_*17+60insACAT rs58898450
NM_194248.3(OTOF):c.*18-18CT[2] rs2465473476
NM_194248.3(OTOF):c.*348G>T rs112312933
NM_194248.3(OTOF):c.1005C>T (p.Gly335=) rs1156648103
NM_194248.3(OTOF):c.102C>T (p.Val34=) rs2148122900
NM_194248.3(OTOF):c.1037C>A (p.Ser346Ter) rs368947038
NM_194248.3(OTOF):c.1038G>C (p.Ser346=) rs750046776
NM_194248.3(OTOF):c.1039C>T (p.Gln347Ter) rs2465289594
NM_194248.3(OTOF):c.1045+11G>A rs1665774291
NM_194248.3(OTOF):c.1045+12C>A rs761253981
NM_194248.3(OTOF):c.1045+13G>A rs374236197
NM_194248.3(OTOF):c.1045+13G>T rs374236197
NM_194248.3(OTOF):c.1045+19C>A rs773286545
NM_194248.3(OTOF):c.1045+19C>T rs773286545
NM_194248.3(OTOF):c.1045+1G>C rs1390966485
NM_194248.3(OTOF):c.1045+1G>T rs1390966485
NM_194248.3(OTOF):c.1045+52_1045+65del rs71915319
NM_194248.3(OTOF):c.1046-10A>G rs1665657565
NM_194248.3(OTOF):c.1046-16C>T rs778181260
NM_194248.3(OTOF):c.1046-7A>G rs756728783
NM_194248.3(OTOF):c.1051C>T (p.Gln351Ter) rs1558492758
NM_194248.3(OTOF):c.105G>A (p.Leu35=) rs2465422818
NM_194248.3(OTOF):c.1067G>A (p.Trp356Ter) rs2465280778
NM_194248.3(OTOF):c.1068G>A (p.Trp356Ter) rs2465280775
NM_194248.3(OTOF):c.1143C>T (p.Gly381=) rs2465280546
NM_194248.3(OTOF):c.1150G>A (p.Asp384Asn) rs753273850
NM_194248.3(OTOF):c.1155C>T (p.Asn385=) rs1387294749
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.1176C>T (p.Ala392=) rs1665652885
NM_194248.3(OTOF):c.1185C>A (p.Thr395=) rs61739877
NM_194248.3(OTOF):c.1205+145C>T rs55877994
NM_194248.3(OTOF):c.1205+20G>A
NM_194248.3(OTOF):c.1205+7C>T rs770430393
NM_194248.3(OTOF):c.1206-10G>T rs769631334
NM_194248.3(OTOF):c.1206-1G>A rs1665625477
NM_194248.3(OTOF):c.1222G>A (p.Glu408Lys)
NM_194248.3(OTOF):c.1233C>T (p.Pro411=)
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.123G>A (p.Val41=) rs1667108403
NM_194248.3(OTOF):c.1242C>G (p.Arg414=) rs2465277211
NM_194248.3(OTOF):c.1243C>T (p.Gln415Ter)
NM_194248.3(OTOF):c.1245G>A (p.Gln415=) rs1447863965
NM_194248.3(OTOF):c.126T>A (p.Ala42=) rs750640187
NM_194248.3(OTOF):c.1272C>G (p.Tyr424Ter) rs1665622456
NM_194248.3(OTOF):c.1285C>T (p.Leu429=) rs776374276
NM_194248.3(OTOF):c.1305C>T (p.Ser435=) rs775703697
NM_194248.3(OTOF):c.1308C>A (p.Leu436=) rs1665621116
NM_194248.3(OTOF):c.1323G>A (p.Lys441=) rs2148060480
NM_194248.3(OTOF):c.1332C>T (p.Phe444=) rs2465276929
NM_194248.3(OTOF):c.1338T>C (p.Gly446=) rs2465276912
NM_194248.3(OTOF):c.1365C>A (p.Tyr455Ter) rs572162678
NM_194248.3(OTOF):c.1365C>T (p.Tyr455=) rs572162678
NM_194248.3(OTOF):c.1375T>C (p.Phe459Leu) rs930408087
NM_194248.3(OTOF):c.138+20C>T rs2465422525
NM_194248.3(OTOF):c.138+251G>A rs73923714
NM_194248.3(OTOF):c.138+4G>A
NM_194248.3(OTOF):c.138+8G>A rs2465422591
NM_194248.3(OTOF):c.139-10C>T rs762481094
NM_194248.3(OTOF):c.139-2A>G rs2465386425
NM_194248.3(OTOF):c.1392+11A>C rs1449484906
NM_194248.3(OTOF):c.1392+9G>C rs774778339
NM_194248.3(OTOF):c.1393-11C>T rs1665569086
NM_194248.3(OTOF):c.1393-13C>T rs2465273094
NM_194248.3(OTOF):c.1393-16C>T rs1665569380
NM_194248.3(OTOF):c.1393-301C>T rs56846135
NM_194248.3(OTOF):c.1393-55_1393-54insATGCACCCACTCACACACAC rs1553354220
NM_194248.3(OTOF):c.1393-69CA[8] rs370631653
NM_194248.3(OTOF):c.1393-8T>C rs2465273034
NM_194248.3(OTOF):c.1397_1409del (p.Lys466fs) rs1064795376
NM_194248.3(OTOF):c.1406_1410del (p.Val469fs) rs2465272964
NM_194248.3(OTOF):c.1410G>A (p.Gln470=) rs1572438126
NM_194248.3(OTOF):c.1413G>A (p.Lys471=) rs769723512
NM_194248.3(OTOF):c.1418G>C (p.Ser473Thr) rs2465272915
NM_194248.3(OTOF):c.1422T>C (p.Tyr474=)
NM_194248.3(OTOF):c.1422T>G (p.Tyr474Ter)
NM_194248.3(OTOF):c.1425G>A (p.Glu475=) rs375680893
NM_194248.3(OTOF):c.1428C>G (p.Pro476=) rs2148058589
NM_194248.3(OTOF):c.1433G>A (p.Trp478Ter) rs2465272871
NM_194248.3(OTOF):c.1437T>C (p.Asn479=) rs757298503
NM_194248.3(OTOF):c.1446C>T (p.Val482=) rs749138873
NM_194248.3(OTOF):c.1452T>C (p.Phe484=) rs2465272822
NM_194248.3(OTOF):c.1458C>T (p.Asp486=) rs2465272810
NM_194248.3(OTOF):c.1468_1469del (p.Pro490fs) rs779119416
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.1469del (p.Pro490fs) rs779119416
NM_194248.3(OTOF):c.1515C>T (p.Val505=) rs2465272515
NM_194248.3(OTOF):c.1524G>A (p.Val508=) rs920464945
NM_194248.3(OTOF):c.1530C>A (p.Ile510=) rs150452778
NM_194248.3(OTOF):c.153_159dup (p.Ser54fs) rs759366568
NM_194248.3(OTOF):c.1548C>T (p.Asp516=) rs754668651
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs) rs1443739332
NM_194248.3(OTOF):c.1553G>T (p.Arg518Leu) rs150090360
NM_194248.3(OTOF):c.1563T>C (p.Ser521=) rs2465272309
NM_194248.3(OTOF):c.1579+10G>C rs1474403464
NM_194248.3(OTOF):c.1579+13A>G rs2465272196
NM_194248.3(OTOF):c.1579+14G>A rs376216223
NM_194248.3(OTOF):c.1579+16C>A rs2148058350
NM_194248.3(OTOF):c.1579+17C>T rs201963112
NM_194248.3(OTOF):c.1579+19G>C rs192297517
NM_194248.3(OTOF):c.1580-10A>C rs369178398
NM_194248.3(OTOF):c.1580-5C>T rs2465268582
NM_194248.3(OTOF):c.1580-7_1580-6delinsTT rs2148057126
NM_194248.3(OTOF):c.1581C>A (p.Gly527=) rs1572436578
NM_194248.3(OTOF):c.1587G>A (p.Leu529=) rs2465268540
NM_194248.3(OTOF):c.1587G>C (p.Leu529=) rs2465268540
NM_194248.3(OTOF):c.1599C>T (p.Gly533=) rs572088556
NM_194248.3(OTOF):c.1601del (p.Pro534fs) rs397515583
NM_194248.3(OTOF):c.1632T>A (p.Arg544=) rs2465268235
NM_194248.3(OTOF):c.1632_1641dup (p.Leu548Ter) rs1445010124
NM_194248.3(OTOF):c.1641G>C (p.Thr547=) rs767607675
NM_194248.3(OTOF):c.1641G>T (p.Thr547=) rs767607675
NM_194248.3(OTOF):c.1651del (p.Glu551fs) rs80356587
NM_194248.3(OTOF):c.1653G>A (p.Glu551=) rs934318072
NM_194248.3(OTOF):c.1665G>T (p.Leu555=) rs2465268090
NM_194248.3(OTOF):c.1689G>A (p.Val563=) rs2465268031
NM_194248.3(OTOF):c.168C>T (p.Ile56=) rs200185262
NM_194248.3(OTOF):c.1698G>A (p.Arg566=) rs1434134132
NM_194248.3(OTOF):c.1700C>A (p.Ala567Asp) rs745520384
NM_194248.3(OTOF):c.1714G>T (p.Gly572Cys) rs2148056953
NM_194248.3(OTOF):c.1716C>T (p.Gly572=) rs1483062041
NM_194248.3(OTOF):c.1725G>A (p.Val575=) rs1665520377
NM_194248.3(OTOF):c.1740C>G (p.Thr580=) rs2465267684
NM_194248.3(OTOF):c.1746C>T (p.Asn582=) rs2465267678
NM_194248.3(OTOF):c.1747C>G (p.Pro583Ala) rs756894987
NM_194248.3(OTOF):c.1756A>C (p.Thr586Pro)
NM_194248.3(OTOF):c.1758C>T (p.Thr586=) rs1355182665
NM_194248.3(OTOF):c.1782G>A (p.Glu594=) rs2465267572
NM_194248.3(OTOF):c.1788C>T (p.Ala596=) rs763836043
NM_194248.3(OTOF):c.1791G>T (p.Thr597=) rs369375897
NM_194248.3(OTOF):c.1803+1G>A rs2148056848
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_194248.3(OTOF):c.1804-4A>G rs2465266133
NM_194248.3(OTOF):c.1804-7C>T rs1449383380
NM_194248.3(OTOF):c.1804-8C>T rs2465266154
NM_194248.3(OTOF):c.1822G>A (p.Glu608Lys)
NM_194248.3(OTOF):c.1845C>T (p.Ala615=) rs1175026119
NM_194248.3(OTOF):c.1861A>G (p.Met621Val)
NM_194248.3(OTOF):c.1866C>T (p.Ile622=)
NM_194248.3(OTOF):c.1867G>A (p.Asp623Asn) rs763063323
NM_194248.3(OTOF):c.1912+19G>A
NM_194248.3(OTOF):c.1912+1G>C rs1477293410
NM_194248.3(OTOF):c.1913-15C>T rs758398410
NM_194248.3(OTOF):c.1920T>C (p.Tyr640=) rs2465607936
NM_194248.3(OTOF):c.1927G>A (p.Glu643Lys) rs200864338
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.1938C>A (p.Gly646=) rs2465607849
NM_194248.3(OTOF):c.1941G>C (p.Leu647=) rs1558488421
NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp) rs373864355
NM_194248.3(OTOF):c.1956G>A (p.Arg652=) rs1308917640
NM_194248.3(OTOF):c.1962del (p.Arg656fs) rs751564248
NM_194248.3(OTOF):c.1966del (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.1966dup (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.1980G>A (p.Gly660=) rs1323522125
NM_194248.3(OTOF):c.1986G>A (p.Glu662=) rs770193706
NM_194248.3(OTOF):c.2034T>C (p.Asp678=) rs1572434411
NM_194248.3(OTOF):c.2037C>T (p.Ala679=) rs397517937
NM_194248.3(OTOF):c.2039G>C (p.Gly680Ala) rs751952710
NM_194248.3(OTOF):c.2040G>C (p.Gly680=) rs1437769745
NM_194248.3(OTOF):c.2061C>T (p.Ser687=) rs2465607136
NM_194248.3(OTOF):c.2076G>A (p.Arg692=) rs138769870
NM_194248.3(OTOF):c.2089G>A (p.Asp697Asn) rs765669745
NM_194248.3(OTOF):c.2093+10G>C rs2148055010
NM_194248.3(OTOF):c.2093+12C>T rs888251005
NM_194248.3(OTOF):c.2093+18T>A rs2465606908
NM_194248.3(OTOF):c.2094-12T>C rs1257885776
NM_194248.3(OTOF):c.2094-13C>G rs1445349522
NM_194248.3(OTOF):c.2094-17G>T rs750895106
NM_194248.3(OTOF):c.2094-8C>T rs1665457497
NM_194248.3(OTOF):c.2112C>G (p.Pro704=) rs760919126
NM_194248.3(OTOF):c.2118G>C (p.Leu706=) rs918506203
NM_194248.3(OTOF):c.211A>G (p.Lys71Glu) rs2465385722
NM_194248.3(OTOF):c.2122C>A (p.Arg708=) rs80356590
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2156C>T (p.Pro719Leu)
NM_194248.3(OTOF):c.2157G>C (p.Pro719=) rs140161941
NM_194248.3(OTOF):c.2171del (p.Arg724fs) rs2465606097
NM_194248.3(OTOF):c.2175C>T (p.Leu725=) rs1572433929
NM_194248.3(OTOF):c.2178C>T (p.Tyr726=)
NM_194248.3(OTOF):c.2202T>C (p.Ile734=) rs1665450846
NM_194248.3(OTOF):c.2214+19G>A rs2465605732
NM_194248.3(OTOF):c.2214+1G>A
NM_194248.3(OTOF):c.2214+74del rs10714255
NM_194248.3(OTOF):c.2214+7G>A rs1292778377
NM_194248.3(OTOF):c.2215-125A>G rs750259905
NM_194248.3(OTOF):c.2215-1G>A rs1558486388
NM_194248.3(OTOF):c.2215-1G>C rs1558486388
NM_194248.3(OTOF):c.2215-204_2215-203del rs55806442
NM_194248.3(OTOF):c.227+16G>C rs768354930
NM_194248.3(OTOF):c.227+17G>T rs2148112875
NM_194248.3(OTOF):c.227+1G>A rs774630352
NM_194248.3(OTOF):c.228-10C>T rs2465359779
NM_194248.3(OTOF):c.228-19C>G
NM_194248.3(OTOF):c.2316-17G>T rs1665372519
NM_194248.3(OTOF):c.2316-18G>T rs747941829
NM_194248.3(OTOF):c.2316-19C>A rs771170200
NM_194248.3(OTOF):c.2316-1G>A rs1332434505
NM_194248.3(OTOF):c.2316-4C>A rs727503358
NM_194248.3(OTOF):c.2316-5C>A
NM_194248.3(OTOF):c.2316-6C>T rs536817165
NM_194248.3(OTOF):c.2316-7C>T rs2465596286
NM_194248.3(OTOF):c.231C>T (p.Leu77=) rs779951897
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.235G>A (p.Gly79Arg) rs727504911
NM_194248.3(OTOF):c.235G>C (p.Gly79Arg)
NM_194248.3(OTOF):c.2370T>A (p.Leu790=) rs2465595535
NM_194248.3(OTOF):c.2383C>T (p.Leu795Phe) rs2148051830
NM_194248.3(OTOF):c.2392T>C (p.Cys798Arg) rs1028297669
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu) rs111033392
NM_194248.3(OTOF):c.2406+13C>G rs368935323
NM_194248.3(OTOF):c.2406+18C>T
NM_194248.3(OTOF):c.2406+2T>C rs2465595172
NM_194248.3(OTOF):c.2407-10_2407-9delinsAA rs2148051425
NM_194248.3(OTOF):c.2407-14C>A
NM_194248.3(OTOF):c.2407-14C>T rs781579490
NM_194248.3(OTOF):c.2407-16_2407-5del rs1366664265
NM_194248.3(OTOF):c.2407-18_2407-17delinsGG rs2465594147
NM_194248.3(OTOF):c.2407-4G>A rs1168314758
NM_194248.3(OTOF):c.2407-4G>T rs1168314758
NM_194248.3(OTOF):c.2407-7_2407-5del rs2465593979
NM_194248.3(OTOF):c.2407-9C>G rs752048579
NM_194248.3(OTOF):c.2436G>A (p.Leu812=) rs2148051340
NM_194248.3(OTOF):c.243_244delinsTT (p.Arg82Cys) rs2465359688
NM_194248.3(OTOF):c.2459C>T (p.Thr820Met)
NM_194248.3(OTOF):c.2460G>C (p.Thr820=) rs1031679224
NM_194248.3(OTOF):c.2469C>T (p.Asp823=) rs1665346670
NM_194248.3(OTOF):c.2470A>G (p.Lys824Glu) rs2148051221
NM_194248.3(OTOF):c.2508C>T (p.Arg836=) rs754022808
NM_194248.3(OTOF):c.2511C>T (p.Phe837=) rs1572430074
NM_194248.3(OTOF):c.2521G>T (p.Glu841Ter) rs772729658
NM_194248.3(OTOF):c.2523+15G>T rs1179496946
NM_194248.3(OTOF):c.2523+18G>A rs1236202965
NM_194248.3(OTOF):c.2523+9C>A
NM_194248.3(OTOF):c.2524-10C>G rs2465591899
NM_194248.3(OTOF):c.2524-10del
NM_194248.3(OTOF):c.2524-11C>A rs775983588
NM_194248.3(OTOF):c.2524-12C>G rs1378219479
NM_194248.3(OTOF):c.2524-13C>G rs761445096
NM_194248.3(OTOF):c.2524-15C>A rs765157921
NM_194248.3(OTOF):c.2524-5C>A rs760209635
NM_194248.3(OTOF):c.2524-5C>G rs760209635
NM_194248.3(OTOF):c.2525C>T (p.Pro842Leu) rs2148050759
NM_194248.3(OTOF):c.252G>A (p.Val84=) rs1666609557
NM_194248.3(OTOF):c.2554T>A (p.Trp852Arg) rs2148050707
NM_194248.3(OTOF):c.2556del (p.Ile851_Trp852insTer) rs2465591579
NM_194248.3(OTOF):c.2577T>C (p.Arg859=) rs753422073
NM_194248.3(OTOF):c.2580C>A (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2580C>T (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2581G>A (p.Ala861Thr) rs373770135
NM_194248.3(OTOF):c.258G>A (p.Gln86=) rs1317660474
NM_194248.3(OTOF):c.2591G>A (p.Arg864His)
NM_194248.3(OTOF):c.2604G>A (p.Lys868=) rs2465591061
NM_194248.3(OTOF):c.2607C>T (p.Asp869=) rs2465591045
NM_194248.3(OTOF):c.2608C>T (p.Leu870=) rs771499146
NM_194248.3(OTOF):c.2620A>T (p.Ile874Phe) rs748223435
NM_194248.3(OTOF):c.2631G>A (p.Glu877=) rs2465590876
NM_194248.3(OTOF):c.2632G>A (p.Glu878Lys) rs1172733523
NM_194248.3(OTOF):c.2637T>C (p.Thr879=) rs2148050436
NM_194248.3(OTOF):c.2639G>A (p.Gly880Asp) rs2465590824
NM_194248.3(OTOF):c.2643G>A (p.Lys881=) rs1187793021
NM_194248.3(OTOF):c.264G>A (p.Val88=) rs2465359591
NM_194248.3(OTOF):c.2661G>A (p.Lys887=)
NM_194248.3(OTOF):c.2676+13G>A rs2465590459
NM_194248.3(OTOF):c.2676+18A>G rs768901515
NM_194248.3(OTOF):c.2676+19T>G rs1665323751
NM_194248.3(OTOF):c.2676+20G>A rs890867522
NM_194248.3(OTOF):c.2676+20G>C rs890867522
NM_194248.3(OTOF):c.2677-190G>C rs183809378
NM_194248.3(OTOF):c.2677-1G>C rs2148048394
NM_194248.3(OTOF):c.2677-20G>A rs1665268089
NM_194248.3(OTOF):c.2677-224_2677-213del rs569183061
NM_194248.3(OTOF):c.2677-6C>T rs2465585338
NM_194248.3(OTOF):c.2677-7C>A rs762269083
NM_194248.3(OTOF):c.2693G>A (p.Gly898Asp) rs772312557
NM_194248.3(OTOF):c.2711G>A (p.Trp904Ter) rs2465584935
NM_194248.3(OTOF):c.2718G>A (p.Val906=) rs1267422179
NM_194248.3(OTOF):c.2751C>A (p.Gly917=) rs1665259377
NM_194248.3(OTOF):c.2765G>A (p.Arg922His) rs148094939
NM_194248.3(OTOF):c.2765G>T (p.Arg922Leu) rs148094939
NM_194248.3(OTOF):c.2769G>A (p.Lys923=)
NM_194248.3(OTOF):c.2773T>C (p.Phe925Leu) rs529032575
NM_194248.3(OTOF):c.2778G>C (p.Leu926=)
NM_194248.3(OTOF):c.2782G>T (p.Gly928Cys)
NM_194248.3(OTOF):c.2810A>C (p.Lys937Thr)
NM_194248.3(OTOF):c.2818C>T (p.Gln940Ter) rs727504936
NM_194248.3(OTOF):c.2838C>G (p.Ala946=) rs2465583985
NM_194248.3(OTOF):c.2838C>T (p.Ala946=) rs2465583985
NM_194248.3(OTOF):c.2839_2867-12del rs2465583273
NM_194248.3(OTOF):c.2843del (p.Pro948fs) rs2465583966
NM_194248.3(OTOF):c.2844A>G (p.Pro948=) rs2465583961
NM_194248.3(OTOF):c.2857G>T (p.Val953Phe) rs767573171
NM_194248.3(OTOF):c.2866+15del
NM_194248.3(OTOF):c.2867-16C>A rs1665246321
NM_194248.3(OTOF):c.2867-5_2881del rs1240121049
NM_194248.3(OTOF):c.2867-6C>G rs763227334
NM_194248.3(OTOF):c.2891C>T (p.Ala964Val) rs201329629
NM_194248.3(OTOF):c.2892G>A (p.Ala964=) rs756565923
NM_194248.3(OTOF):c.2922C>A (p.Ala974=) rs780234165
NM_194248.3(OTOF):c.2922C>G (p.Ala974=) rs780234165
NM_194248.3(OTOF):c.2922C>T (p.Ala974=) rs780234165
NM_194248.3(OTOF):c.2924C>T (p.Ala975Val) rs909276883
NM_194248.3(OTOF):c.2928C>T (p.Asp976=) rs534758736
NM_194248.3(OTOF):c.2935G>A (p.Gly979Arg) rs1238814392
NM_194248.3(OTOF):c.2941_2947del (p.Ser981fs) rs2465582514
NM_194248.3(OTOF):c.2956del (p.Arg986fs) rs2465582430
NM_194248.3(OTOF):c.2958C>A (p.Arg986=) rs1002704608
NM_194248.3(OTOF):c.2958C>T (p.Arg986=) rs1002704608
NM_194248.3(OTOF):c.2964C>T (p.Phe988=) rs748585019
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.2991+14A>C rs1665233630
NM_194248.3(OTOF):c.2991+7G>A rs1041895552
NM_194248.3(OTOF):c.2992-10C>T rs766343182
NM_194248.3(OTOF):c.2992-11C>A rs2465579414
NM_194248.3(OTOF):c.2992-14A>G rs370041999
NM_194248.3(OTOF):c.2992-15C>T rs2465579470
NM_194248.3(OTOF):c.2992-16C>T rs1429847023
NM_194248.3(OTOF):c.2992-19T>G rs2465579497
NM_194248.3(OTOF):c.2992-47_2992-46dup rs552439777
NM_194248.3(OTOF):c.2992-47dup rs552439777
NM_194248.3(OTOF):c.2992-7G>T rs2465579354
NM_194248.3(OTOF):c.3000T>C (p.Asn1000=) rs2465579276
NM_194248.3(OTOF):c.3009G>A (p.Leu1003=) rs1233899315
NM_194248.3(OTOF):c.3033G>T (p.Leu1011=) rs2465579060
NM_194248.3(OTOF):c.3039C>T (p.Phe1013=)
NM_194248.3(OTOF):c.3040G>A (p.Asp1014Asn) rs199771991
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter) rs2148046428
NM_194248.3(OTOF):c.306T>C (p.Asp102=) rs770925605
NM_194248.3(OTOF):c.3070G>T (p.Glu1024Ter) rs2465578845
NM_194248.3(OTOF):c.3084T>C (p.Asp1028=) rs749385382
NM_194248.3(OTOF):c.3087G>T (p.Pro1029=) rs746829542
NM_194248.3(OTOF):c.3093C>T (p.Ile1031=)
NM_194248.3(OTOF):c.3126+2T>C rs555566878
NM_194248.3(OTOF):c.3127-10G>C rs1158629400
NM_194248.3(OTOF):c.3127-6C>T rs779836763
NM_194248.3(OTOF):c.3129C>A (p.Gly1043=) rs2465574615
NM_194248.3(OTOF):c.3132A>G (p.Lys1044=) rs2465574609
NM_194248.3(OTOF):c.3150G>T (p.Arg1050=) rs1665169617
NM_194248.3(OTOF):c.3159del (p.Lys1054fs) rs2465574448
NM_194248.3(OTOF):c.315T>C (p.Asn105=) rs2465359392
NM_194248.3(OTOF):c.3171G>A (p.Val1057=) rs1294564550
NM_194248.3(OTOF):c.3178del (p.Ala1060fs) rs727504639
NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter) rs766819324
NM_194248.3(OTOF):c.3207C>T (p.Phe1069=) rs267599306
NM_194248.3(OTOF):c.3239del (p.Arg1080fs) rs2465573825
NM_194248.3(OTOF):c.3247G>A (p.Ala1083Thr) rs80356574
NM_194248.3(OTOF):c.3258_3268dup (p.Ala1090fs) rs1665161757
NM_194248.3(OTOF):c.327+12C>G rs1362688276
NM_194248.3(OTOF):c.328-14C>A rs200932993
NM_194248.3(OTOF):c.328-1G>C rs2465353637
NM_194248.3(OTOF):c.328-1G>T rs2465353637
NM_194248.3(OTOF):c.328-7C>T rs2465353659
NM_194248.3(OTOF):c.328-8C>G rs2465353663
NM_194248.3(OTOF):c.3284_3288+10del
NM_194248.3(OTOF):c.3288+16A>G rs1385248077
NM_194248.3(OTOF):c.3288+17G>A rs774017754
NM_194248.3(OTOF):c.3288+17G>C rs774017754
NM_194248.3(OTOF):c.3288+19G>C rs2465573479
NM_194248.3(OTOF):c.3288+20G>A rs1481314940
NM_194248.3(OTOF):c.3288+4G>A rs2465573535
NM_194248.3(OTOF):c.3289-13C>T
NM_194248.3(OTOF):c.3289-14C>T rs779559643
NM_194248.3(OTOF):c.3289-6C>T rs765780155
NM_194248.3(OTOF):c.3297A>G (p.Pro1099=) rs760661519
NM_194248.3(OTOF):c.32C>A (p.Ser11Ter) rs200972155
NM_194248.3(OTOF):c.32C>T (p.Ser11Leu) rs200972155
NM_194248.3(OTOF):c.3315G>A (p.Leu1105=) rs370116557
NM_194248.3(OTOF):c.3316C>T (p.Pro1106Ser)
NM_194248.3(OTOF):c.3321C>G (p.Pro1107=) rs373313654
NM_194248.3(OTOF):c.3321del (p.Ile1108fs) rs748545363
NM_194248.3(OTOF):c.3321dup (p.Ile1108fs) rs748545363
NM_194248.3(OTOF):c.3333G>A (p.Pro1111=) rs576076540
NM_194248.3(OTOF):c.3333G>T (p.Pro1111=) rs576076540
NM_194248.3(OTOF):c.3336G>A (p.Val1112=) rs2465570499
NM_194248.3(OTOF):c.333C>A (p.Ser111Arg) rs2148098670
NM_194248.3(OTOF):c.3342G>A (p.Val1114=) rs2465570470
NM_194248.3(OTOF):c.3345C>T (p.Asp1115=) rs2465570450
NM_194248.3(OTOF):c.3360G>A (p.Met1120Ile) rs2148043458
NM_194248.3(OTOF):c.3363C>T (p.Pro1121=) rs745957247
NM_194248.3(OTOF):c.3381G>C (p.Arg1127=) rs756261346
NM_194248.3(OTOF):c.3382C>T (p.Pro1128Ser)
NM_194248.3(OTOF):c.3384C>G (p.Pro1128=) rs145151677
NM_194248.3(OTOF):c.3402A>C (p.Arg1134=) rs765067528
NM_194248.3(OTOF):c.3408+14G>C rs2465569955
NM_194248.3(OTOF):c.3408+1G>A rs2465570025
NM_194248.3(OTOF):c.3408+8G>A rs771739529
NM_194248.3(OTOF):c.3409-10C>A rs751889849
NM_194248.3(OTOF):c.3409-14C>T rs2465567845
NM_194248.3(OTOF):c.3409-2A>C rs201613240
NM_194248.3(OTOF):c.3409-9C>G rs1274193375
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro) rs397515599
NM_194248.3(OTOF):c.3417C>T (p.Phe1139=) rs2465567681
NM_194248.3(OTOF):c.3420G>A (p.Trp1140Ter)
NM_194248.3(OTOF):c.3474G>A (p.Val1158=) rs2465567251
NM_194248.3(OTOF):c.3480_3486del (p.Ile1160fs) rs1665100275
NM_194248.3(OTOF):c.3481G>T (p.Glu1161Ter) rs758983524
NM_194248.3(OTOF):c.3489A>G (p.Ala1163=) rs2465567090
NM_194248.3(OTOF):c.3495G>A (p.Lys1165=) rs1283501804
NM_194248.3(OTOF):c.3507G>A (p.Ser1169=) rs111033513
NM_194248.3(OTOF):c.3507G>T (p.Ser1169=) rs111033513
NM_194248.3(OTOF):c.351G>A (p.Arg117=) rs191135828
NM_194248.3(OTOF):c.3525T>C (p.Tyr1175=) rs2465566749
NM_194248.3(OTOF):c.3528G>A (p.Lys1176=) rs1463444090
NM_194248.3(OTOF):c.354T>A (p.Tyr118Ter) rs2465353501
NM_194248.3(OTOF):c.3568G>C (p.Val1190Leu) rs1327835518
NM_194248.3(OTOF):c.3570+10G>C rs1665094695
NM_194248.3(OTOF):c.3570+11G>A rs1572421048
NM_194248.3(OTOF):c.3570+12C>A rs2465566436
NM_194248.3(OTOF):c.3570+18C>T rs770114809
NM_194248.3(OTOF):c.3570+7G>A rs368906262
NM_194248.3(OTOF):c.3571-17dup rs1204948583
NM_194248.3(OTOF):c.3571-4C>T rs2465565875
NM_194248.3(OTOF):c.3571-6C>T rs397517944
NM_194248.3(OTOF):c.3571-7A>G rs1214835529
NM_194248.3(OTOF):c.3589C>T (p.Leu1197=) rs2148041803
NM_194248.3(OTOF):c.3603C>G (p.Pro1201=)
NM_194248.3(OTOF):c.3604T>C (p.Leu1202=) rs2465565671
NM_194248.3(OTOF):c.3624C>T (p.Asp1208=) rs200703196
NM_194248.3(OTOF):c.3645C>T (p.Tyr1215=) rs1353820549
NM_194248.3(OTOF):c.3679C>T (p.Arg1227Ter) rs111033478
NM_194248.3(OTOF):c.36G>A (p.Glu12=) rs2465492078
NM_194248.3(OTOF):c.3711G>C (p.Ser1237=) rs141973547
NM_194248.3(OTOF):c.3722G>A (p.Trp1241Ter)
NM_194248.3(OTOF):c.3733+14C>A rs779857874
NM_194248.3(OTOF):c.3733+16C>T rs1209959501
NM_194248.3(OTOF):c.3733+7C>T rs1665075227
NM_194248.3(OTOF):c.3733+8C>T rs746801373
NM_194248.3(OTOF):c.3734-19dup rs767663880
NM_194248.3(OTOF):c.3734-23_3734-20del
NM_194248.3(OTOF):c.3734-2A>C rs748827423
NM_194248.3(OTOF):c.3734-2A>G rs748827423
NM_194248.3(OTOF):c.376G>T (p.Gly126Cys) rs1318800399
NM_194248.3(OTOF):c.3771G>A (p.Gly1257=) rs1339877637
NM_194248.3(OTOF):c.3774C>T (p.Gly1258=) rs2465561502
NM_194248.3(OTOF):c.3774CTC[2] (p.Ser1261del) rs755171049
NM_194248.3(OTOF):c.3780C>G (p.Ser1260=) rs2465561453
NM_194248.3(OTOF):c.3791C>T (p.Thr1264Ile) rs145866262
NM_194248.3(OTOF):c.3816G>A (p.Glu1272=) rs2465561217
NM_194248.3(OTOF):c.3819A>G (p.Pro1273=) rs1665040797
NM_194248.3(OTOF):c.3828C>T (p.Pro1276=) rs2465561147
NM_194248.3(OTOF):c.3840G>A (p.Leu1280=) rs2465561077
NM_194248.3(OTOF):c.3844A>G (p.Thr1282Ala) rs2148039850
NM_194248.3(OTOF):c.3848T>C (p.Met1283Thr) rs1665039198
NM_194248.3(OTOF):c.3862G>T (p.Ala1288Ser) rs747407421
NM_194248.3(OTOF):c.3864+10del rs751648187
NM_194248.3(OTOF):c.3864+15G>A rs751417627
NM_194248.3(OTOF):c.3864+18A>G rs1182539995
NM_194248.3(OTOF):c.3864+2T>C rs750986210
NM_194248.3(OTOF):c.3864G>A (p.Ala1288=)
NM_194248.3(OTOF):c.3865-13G>C rs1664957807
NM_194248.3(OTOF):c.3865-2A>G rs1131691278
NM_194248.3(OTOF):c.3870T>A (p.Ser1290=) rs777658929
NM_194248.3(OTOF):c.3894+13G>A
NM_194248.3(OTOF):c.3894+13G>T
NM_194248.3(OTOF):c.3894+9G>A rs1234044347
NM_194248.3(OTOF):c.3895-17A>T rs2465550605
NM_194248.3(OTOF):c.3895-1G>A rs2465550514
NM_194248.3(OTOF):c.3903G>A (p.Glu1301=) rs1372229558
NM_194248.3(OTOF):c.390T>C (p.Asp130=) rs1235747341
NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del) rs368148603
NM_194248.3(OTOF):c.3913AAG[7] (p.Lys1310dup) rs368148603
NM_194248.3(OTOF):c.3913AAG[8] (p.Lys1309_Lys1310dup) rs368148603
NM_194248.3(OTOF):c.3918G>A (p.Lys1306=)
NM_194248.3(OTOF):c.3924G>A (p.Lys1308=) rs759041936
NM_194248.3(OTOF):c.3925_4023+169delinsG rs2465548821
NM_194248.3(OTOF):c.3937G>A (p.Ala1313Thr)
NM_194248.3(OTOF):c.393G>C (p.Gly131=) rs1179293064
NM_194248.3(OTOF):c.3951_3965dup (p.Pro1321_Asp1322insGluGluGluGluPro) rs1558476148
NM_194248.3(OTOF):c.3957G>A (p.Glu1319=) rs2465550040
NM_194248.3(OTOF):c.3966C>T (p.Asp1322=) rs80356576
NM_194248.3(OTOF):c.3969G>A (p.Glu1323=) rs757041871
NM_194248.3(OTOF):c.3982dup (p.Trp1328fs) rs2465549875
NM_194248.3(OTOF):c.4023+10C>T rs950118427
NM_194248.3(OTOF):c.4023+13G>A
NM_194248.3(OTOF):c.4023+18G>A rs2465549605
NM_194248.3(OTOF):c.4023+20G>A
NM_194248.3(OTOF):c.4023+5G>C
NM_194248.3(OTOF):c.4024-12A>G rs1572412983
NM_194248.3(OTOF):c.4024-13C>T rs2465540717
NM_194248.3(OTOF):c.4024-14T>A rs1664836650
NM_194248.3(OTOF):c.4024-20T>G rs2465540757
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805
NM_194248.3(OTOF):c.4036C>T (p.Gln1346Ter) rs764606007
NM_194248.3(OTOF):c.4038A>G (p.Gln1346=) rs1664835092
NM_194248.3(OTOF):c.4083T>C (p.Asn1361=) rs2465540138
NM_194248.3(OTOF):c.408T>C (p.Asp136=) rs1419225749
NM_194248.3(OTOF):c.4090+18G>A rs1462177439
NM_194248.3(OTOF):c.4090+7C>G rs2465540059
NM_194248.3(OTOF):c.4091-13T>C rs2465536099
NM_194248.3(OTOF):c.4091-17T>C rs747968281
NM_194248.3(OTOF):c.4091-2A>C rs1664789878
NM_194248.3(OTOF):c.411G>A (p.Glu137=) rs1666529727
NM_194248.3(OTOF):c.4124C>T (p.Ala1375Val)
NM_194248.3(OTOF):c.4138G>T (p.Glu1380Ter)
NM_194248.3(OTOF):c.4140G>A (p.Glu1380=) rs1664786945
NM_194248.3(OTOF):c.4143G>A (p.Glu1381=)
NM_194248.3(OTOF):c.4146G>T (p.Lys1382Asn)
NM_194248.3(OTOF):c.4179G>A (p.Gln1393=) rs1160550574
NM_194248.3(OTOF):c.418C>T (p.Gln140Ter) rs765067013
NM_194248.3(OTOF):c.4193C>T (p.Pro1398Leu) rs141157381
NM_194248.3(OTOF):c.41G>A (p.Arg14Gln)
NM_194248.3(OTOF):c.420A>G (p.Gln140=) rs2465353154
NM_194248.3(OTOF):c.4227+14A>T rs2465534889
NM_194248.3(OTOF):c.4227+16C>T rs1664781485
NM_194248.3(OTOF):c.4228-15C>G rs1366274588
NM_194248.3(OTOF):c.4228-1G>A rs111033342
NM_194248.3(OTOF):c.423G>A (p.Glu141=) rs1458296034
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter) rs80356598
NM_194248.3(OTOF):c.4281C>T (p.His1427=) rs2465533784
NM_194248.3(OTOF):c.4289_4292dup (p.Arg1433fs) rs2465533702
NM_194248.3(OTOF):c.4290C>T (p.Asn1430=) rs566846495
NM_194248.3(OTOF):c.4301dup (p.Lys1435fs) rs2465533651
NM_194248.3(OTOF):c.4308C>T (p.Thr1436=) rs558685914
NM_194248.3(OTOF):c.4309G>A (p.Gly1437Arg)
NM_194248.3(OTOF):c.4311G>C (p.Gly1437=)
NM_194248.3(OTOF):c.4312del (p.Asp1438fs) rs2148030624
NM_194248.3(OTOF):c.4324G>A (p.Gly1442Ser) rs367581711
NM_194248.3(OTOF):c.4332C>A (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.4332C>G (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.4334A>G (p.Glu1445Gly) rs1131691695
NM_194248.3(OTOF):c.4362+17G>C rs775761790
NM_194248.3(OTOF):c.4362+54del rs3215308
NM_194248.3(OTOF):c.4362+7C>G rs1420526458
NM_194248.3(OTOF):c.4363-12del rs755225444
NM_194248.3(OTOF):c.4363-17A>G rs2465531704
NM_194248.3(OTOF):c.4363-18del rs1396177837
NM_194248.3(OTOF):c.4363-19C>T rs2465531727
NM_194248.3(OTOF):c.4365C>T (p.Gly1455=)
NM_194248.3(OTOF):c.4377G>A (p.Val1459=) rs374209343
NM_194248.3(OTOF):c.4385_4386del (p.Val1462fs) rs2465531415
NM_194248.3(OTOF):c.4401C>T (p.Asp1467=) rs138500783
NM_194248.3(OTOF):c.4402G>A (p.Val1468Met) rs148191464
NM_194248.3(OTOF):c.4419C>T (p.Gly1473=) rs1453469487
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.4485A>G (p.Arg1495=) rs2465530587
NM_194248.3(OTOF):c.4495del (p.Val1499fs) rs1558472224
NM_194248.3(OTOF):c.4500+10C>T rs544653934
NM_194248.3(OTOF):c.4500+14C>A rs370657974
NM_194248.3(OTOF):c.4500+14C>G rs370657974
NM_194248.3(OTOF):c.4500+16C>T rs2465530171
NM_194248.3(OTOF):c.4500+18T>C rs1479633146
NM_194248.3(OTOF):c.4501-10C>G rs750779661
NM_194248.3(OTOF):c.4501-17C>T rs371683551
NM_194248.3(OTOF):c.4506G>T (p.Thr1502=)
NM_194248.3(OTOF):c.4509C>T (p.Asp1503=) rs1335296783
NM_194248.3(OTOF):c.4513C>T (p.His1505Tyr) rs61736278
NM_194248.3(OTOF):c.4515C>T (p.His1505=) rs1028280853
NM_194248.3(OTOF):c.4521T>A (p.Ala1507=) rs2148028287
NM_194248.3(OTOF):c.452G>C (p.Gly151Ala)
NM_194248.3(OTOF):c.4545C>G (p.Pro1515=) rs1194135005
NM_194248.3(OTOF):c.4554C>T (p.Ala1518=) rs2465526053
NM_194248.3(OTOF):c.4558C>A (p.Arg1520=) rs552370678
NM_194248.3(OTOF):c.456G>A (p.Leu152=) rs1374838074
NM_194248.3(OTOF):c.4581C>A (p.Arg1527=) rs560125081
NM_194248.3(OTOF):c.4596del (p.Asn1531_Tyr1532insTer) rs1664708676
NM_194248.3(OTOF):c.45C>T (p.Gly15=) rs2465492013
NM_194248.3(OTOF):c.4628+13G>T rs745578714
NM_194248.3(OTOF):c.462A>G (p.Pro154=) rs2465352966
NM_194248.3(OTOF):c.4641C>G (p.Ile1547Met) rs145770014
NM_194248.3(OTOF):c.4642del (p.Glu1548fs)
NM_194248.3(OTOF):c.4653C>T (p.Phe1551=) rs756466795
NM_194248.3(OTOF):c.4665C>T (p.Ser1555=) rs2465524524
NM_194248.3(OTOF):c.4667T>A (p.Met1556Lys) rs1273912224
NM_194248.3(OTOF):c.4673C>T (p.Thr1558Met)
NM_194248.3(OTOF):c.46del (p.Arg16fs) rs2465492004
NM_194248.3(OTOF):c.471G>C (p.Arg157=) rs2465352930
NM_194248.3(OTOF):c.4740G>A (p.Leu1580=)
NM_194248.3(OTOF):c.4749C>G (p.Arg1583=) rs2465523972
NM_194248.3(OTOF):c.4755C>T (p.Tyr1585=) rs747128074
NM_194248.3(OTOF):c.4776C>A (p.Cys1592Ter) rs372324595
NM_194248.3(OTOF):c.4782C>A (p.Ile1594=) rs765847178
NM_194248.3(OTOF):c.4799+10G>T rs2148027461
NM_194248.3(OTOF):c.4799+13_4799+19del rs2148027432
NM_194248.3(OTOF):c.4799+1G>C rs200147906
NM_194248.3(OTOF):c.4799+1G>T rs200147906
NM_194248.3(OTOF):c.4799+218G>A rs58155484
NM_194248.3(OTOF):c.4799+8G>A rs1664689426
NM_194248.3(OTOF):c.4799+8G>C rs1664689426
NM_194248.3(OTOF):c.4800-11C>G rs41286009
NM_194248.3(OTOF):c.4800-16G>T rs762404140
NM_194248.3(OTOF):c.4800-19del rs2465519531
NM_194248.3(OTOF):c.4803T>C (p.His1601=) rs761514235
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.480C>T (p.Ser160=) rs2465352893
NM_194248.3(OTOF):c.481C>T (p.Arg161Trp) rs377378925
NM_194248.3(OTOF):c.4822G>T (p.Asp1608Tyr) rs111033425
NM_194248.3(OTOF):c.4824C>A (p.Asp1608Glu)
NM_194248.3(OTOF):c.482G>A (p.Arg161Gln) rs141475833
NM_194248.3(OTOF):c.4836C>T (p.Pro1612=) rs1170185275
NM_194248.3(OTOF):c.4840C>T (p.Gln1614Ter)
NM_194248.3(OTOF):c.4877_4880del (p.Asp1626fs) rs2465518726
NM_194248.3(OTOF):c.4881C>T (p.Gly1627=)
NM_194248.3(OTOF):c.4887C>T (p.His1629=) rs2465518622
NM_194248.3(OTOF):c.4894C>A (p.Pro1632Thr) rs749332831
NM_194248.3(OTOF):c.489A>G (p.Pro163=) rs2465352705
NM_194248.3(OTOF):c.4902G>T (p.Gly1634=) rs1364287467
NM_194248.3(OTOF):c.4932T>C (p.Thr1644=) rs753301872
NM_194248.3(OTOF):c.4936C>A (p.Pro1646Thr) rs17005371
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.493G>T (p.Glu165Ter) rs2465352690
NM_194248.3(OTOF):c.4941T>G (p.Ser1647=) rs1219592638
NM_194248.3(OTOF):c.4954G>A (p.Glu1652Lys) rs143184716
NM_194248.3(OTOF):c.4954G>C (p.Glu1652Gln) rs143184716
NM_194248.3(OTOF):c.4959del (p.Asn1653fs) rs2465517976
NM_194248.3(OTOF):c.4960+14G>A
NM_194248.3(OTOF):c.4960+15G>T
NM_194248.3(OTOF):c.4960+16A>G rs2465517845
NM_194248.3(OTOF):c.4960+7G>A rs887276336
NM_194248.3(OTOF):c.4960+9G>A
NM_194248.3(OTOF):c.4960+9G>T rs1173682184
NM_194248.3(OTOF):c.4961-10G>C rs2465514259
NM_194248.3(OTOF):c.4961-15C>G rs767008483
NM_194248.3(OTOF):c.4961-17G>A rs2148024950
NM_194248.3(OTOF):c.4961-1G>A rs2148024902
NM_194248.3(OTOF):c.4961-5C>T rs761780881
NM_194248.3(OTOF):c.4989G>A (p.Val1663=) rs2465513967
NM_194248.3(OTOF):c.4995G>A (p.Leu1665=) rs111033371
NM_194248.3(OTOF):c.5003T>C (p.Leu1668Pro) rs1474051378
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.509+13A>T rs2148098160
NM_194248.3(OTOF):c.509+14C>A rs2465352535
NM_194248.3(OTOF):c.510-10C>A rs2465324415
NM_194248.3(OTOF):c.510-11C>T rs746069471
NM_194248.3(OTOF):c.510-12C>T rs2465324423
NM_194248.3(OTOF):c.510-13G>A rs772400408
NM_194248.3(OTOF):c.510-13G>T rs772400408
NM_194248.3(OTOF):c.510-7C>A rs1317806061
NM_194248.3(OTOF):c.510-7del rs780497211
NM_194248.3(OTOF):c.510-9C>G rs199789769
NM_194248.3(OTOF):c.513C>T (p.Ala171=) rs2465324358
NM_194248.3(OTOF):c.5193-11C>T
NM_194248.3(OTOF):c.5193-18T>G rs2465501104
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.5193-1G>C rs111033373
NM_194248.3(OTOF):c.5193-3del rs1664499681
NM_194248.3(OTOF):c.5193-6G>C rs2465501021
NM_194248.3(OTOF):c.5193-9T>C rs886055875
NM_194248.3(OTOF):c.5196C>A (p.Tyr1732Ter) rs138681366
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5200C>G (p.Leu1734Val) rs2148021116
NM_194248.3(OTOF):c.5205G>A (p.Arg1735=) rs1478802762
NM_194248.3(OTOF):c.5206del (p.Val1736fs) rs2465500821
NM_194248.3(OTOF):c.5232G>A (p.Val1744=) rs768638945
NM_194248.3(OTOF):c.5233G>A (p.Val1745Ile) rs370539347
NM_194248.3(OTOF):c.5241G>A (p.Glu1747=) rs1347360743
NM_194248.3(OTOF):c.5253C>T (p.Phe1751=) rs2465500478
NM_194248.3(OTOF):c.5254T>C (p.Phe1752Leu) rs1085307832
NM_194248.3(OTOF):c.5283C>T (p.Phe1761=)
NM_194248.3(OTOF):c.5291+13del rs1188310037
NM_194248.3(OTOF):c.5291+18G>A rs762113744
NM_194248.3(OTOF):c.5291+18G>C rs762113744
NM_194248.3(OTOF):c.5291+18G>T rs762113744
NM_194248.3(OTOF):c.5291+8A>G rs2148020867
NM_194248.3(OTOF):c.5292-20T>C rs2465499199
NM_194248.3(OTOF):c.5292-29_5292-19dup rs1419279662
NM_194248.3(OTOF):c.5292-4A>C rs1664485235
NM_194248.3(OTOF):c.5292-5C>T rs2465499060
NM_194248.3(OTOF):c.5298G>A (p.Leu1766=) rs2465498968
NM_194248.3(OTOF):c.5308C>T (p.Gln1770Ter) rs2465498866
NM_194248.3(OTOF):c.5319G>A (p.Lys1773=) rs1312023769
NM_194248.3(OTOF):c.5343C>A (p.His1781Gln) rs375826721
NM_194248.3(OTOF):c.5346C>A (p.Ser1782=) rs2465498635
NM_194248.3(OTOF):c.5369A>G (p.Asn1790Ser) rs965017813
NM_194248.3(OTOF):c.5379C>G (p.Tyr1793Ter) rs1558466620
NM_194248.3(OTOF):c.5379C>T (p.Tyr1793=) rs1558466620
NM_194248.3(OTOF):c.5392G>A (p.Asp1798Asn)
NM_194248.3(OTOF):c.5397C>T (p.Tyr1799=)
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5425T>G (p.Ser1809Ala)
NM_194248.3(OTOF):c.5431A>T (p.Lys1811Ter) rs1487432642
NM_194248.3(OTOF):c.5435A>G (p.Glu1812Gly) rs2465497730
NM_194248.3(OTOF):c.5436G>A (p.Glu1812=) rs2465497726
NM_194248.3(OTOF):c.5445C>T (p.Phe1815=) rs746740181
NM_194248.3(OTOF):c.5460C>G (p.Thr1820=) rs148749290
NM_194248.3(OTOF):c.5466C>T (p.Tyr1822=) rs753580324
NM_194248.3(OTOF):c.5469G>A (p.Lys1823=) rs2465497493
NM_194248.3(OTOF):c.5475C>A (p.Pro1825=) rs760178516
NM_194248.3(OTOF):c.5475C>T (p.Pro1825=) rs760178516
NM_194248.3(OTOF):c.5479C>A (p.Arg1827=) rs142748621
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5484C>T (p.Leu1828=) rs760473764
NM_194248.3(OTOF):c.5487C>T (p.Thr1829=) rs775318270
NM_194248.3(OTOF):c.5508C>T (p.Asp1836=) rs1219681184
NM_194248.3(OTOF):c.5531del (p.Leu1844fs) rs1164047840
NM_194248.3(OTOF):c.5533+9C>G rs2465497074
NM_194248.3(OTOF):c.5533+9CAGGG[3] rs2465496987
NM_194248.3(OTOF):c.5534-11G>T
NM_194248.3(OTOF):c.5534-198A>T rs114397533
NM_194248.3(OTOF):c.5534-4A>G rs1558465575
NM_194248.3(OTOF):c.5535G>A (p.Gly1845=) rs112201968
NM_194248.3(OTOF):c.5557C>A (p.Arg1853=) rs751904344
NM_194248.3(OTOF):c.5557_5560dup (p.Phe1854fs)
NM_194248.3(OTOF):c.5559G>T (p.Arg1853=) rs2465493564
NM_194248.3(OTOF):c.5566C>A (p.Arg1856=) rs368155547
NM_194248.3(OTOF):c.5569_5570delinsAA (p.Gly1857Asn)
NM_194248.3(OTOF):c.5581del (p.Ala1861fs) rs1572399804
NM_194248.3(OTOF):c.5586G>A (p.Lys1862=) rs2465493202
NM_194248.3(OTOF):c.5595C>T (p.Thr1865=) rs539242828
NM_194248.3(OTOF):c.5607C>T (p.Ala1869=)
NM_194248.3(OTOF):c.5613G>A (p.Gly1871=) rs2465492964
NM_194248.3(OTOF):c.5646G>A (p.Lys1882=) rs2465492643
NM_194248.3(OTOF):c.5658C>G (p.Val1886=) rs2465492465
NM_194248.3(OTOF):c.5661del (p.Gly1888fs) rs2465492447
NM_194248.3(OTOF):c.5668T>C (p.Trp1890Arg) rs1572399566
NM_194248.3(OTOF):c.5682C>G (p.Ala1894=) rs201111215
NM_194248.3(OTOF):c.5694C>T (p.Asn1898=) rs1318486079
NM_194248.3(OTOF):c.5697T>C (p.Asp1899=) rs1664430001
NM_194248.3(OTOF):c.5703T>C (p.Phe1901=) rs749783559
NM_194248.3(OTOF):c.5712+11dup rs2465491687
NM_194248.3(OTOF):c.5712+15C>T rs2148018118
NM_194248.3(OTOF):c.5712+16T>C rs2465491623
NM_194248.3(OTOF):c.5712+7_5712+18del rs2465491611
NM_194248.3(OTOF):c.5712+8C>A rs2465491719
NM_194248.3(OTOF):c.5713-16T>A rs2148017878
NM_194248.3(OTOF):c.5713-18C>A rs2465490940
NM_194248.3(OTOF):c.5727T>A (p.Ala1909=) rs149608479
NM_194248.3(OTOF):c.5740C>T (p.Leu1914=) rs972223120
NM_194248.3(OTOF):c.5745A>C (p.Thr1915=) rs759301401
NM_194248.3(OTOF):c.5772G>A (p.Val1924=) rs2465490413
NM_194248.3(OTOF):c.5780C>T (p.Ala1927Val) rs2465490325
NM_194248.3(OTOF):c.5800C>G (p.Leu1934Val)
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5813+9C>T rs1328837186
NM_194248.3(OTOF):c.5814-13C>T rs2465486495
NM_194248.3(OTOF):c.5814-17T>C rs1461471180
NM_194248.3(OTOF):c.5814-1_5833del rs2465486170
NM_194248.3(OTOF):c.5814-20C>T rs777694039
NM_194248.3(OTOF):c.5814-20dup rs750516055
NM_194248.3(OTOF):c.5814-9A>G rs2465486458
NM_194248.3(OTOF):c.5821G>C (p.Asp1941His)
NM_194248.3(OTOF):c.584-11A>G rs558198759
NM_194248.3(OTOF):c.584-17T>G rs1195925282
NM_194248.3(OTOF):c.584-18G>T rs2465319801
NM_194248.3(OTOF):c.5859G>A (p.Ser1953=) rs202127439
NM_194248.3(OTOF):c.5883G>A (p.Thr1961=) rs370716879
NM_194248.3(OTOF):c.5892G>A (p.Trp1964Ter) rs757642790
NM_194248.3(OTOF):c.5895G>C (p.Leu1965=)
NM_194248.3(OTOF):c.5907G>A (p.Leu1969=) rs1490673611
NM_194248.3(OTOF):c.5907G>C (p.Leu1969=) rs1490673611
NM_194248.3(OTOF):c.5917C>T (p.Leu1973=) rs2465485336
NM_194248.3(OTOF):c.5928C>G (p.Leu1976=) rs774666407
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_194248.3(OTOF):c.5940C>G (p.Ala1980=) rs1405476354
NM_194248.3(OTOF):c.5940C>T (p.Ala1980=) rs1405476354
NM_194248.3(OTOF):c.5941C>T (p.Leu1981=) rs1664387289
NM_194248.3(OTOF):c.5943G>A (p.Leu1981=) rs998990923
NM_194248.3(OTOF):c.5952C>T (p.Tyr1984=) rs2465485081
NM_194248.3(OTOF):c.5958G>C (p.Val1986=) rs2148016510
NM_194248.3(OTOF):c.5967C>T (p.Tyr1989=) rs1451195279
NM_194248.3(OTOF):c.5970G>A (p.Leu1990=) rs2465484965
NM_194248.3(OTOF):c.60C>A (p.Ile20=) rs745558146
NM_194248.3(OTOF):c.60C>T (p.Ile20=) rs745558146
NM_194248.3(OTOF):c.631C>A (p.Arg211=) rs138720253
NM_194248.3(OTOF):c.633G>C (p.Arg211=) rs1572456253
NM_194248.3(OTOF):c.660G>C (p.Ser220=) rs745785393
NM_194248.3(OTOF):c.689C>G (p.Thr230Ser)
NM_194248.3(OTOF):c.694A>C (p.Asn232His)
NM_194248.3(OTOF):c.708G>A (p.Lys236=) rs373746387
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter) rs397515610
NM_194248.3(OTOF):c.710+11G>C rs372861260
NM_194248.3(OTOF):c.710+12G>A
NM_194248.3(OTOF):c.710+13dup rs1375006227
NM_194248.3(OTOF):c.710G>A (p.Arg237Gln)
NM_194248.3(OTOF):c.710G>C (p.Arg237Pro)
NM_194248.3(OTOF):c.711-11C>T rs1666121746
NM_194248.3(OTOF):c.711-19G>A rs1666122018
NM_194248.3(OTOF):c.711-1G>T rs1666121550
NM_194248.3(OTOF):c.711-5C>T rs1171137802
NM_194248.3(OTOF):c.711-9C>T rs754022528
NM_194248.3(OTOF):c.718C>G (p.Pro240Ala) rs759273810
NM_194248.3(OTOF):c.727A>T (p.Lys243Ter) rs2465317833
NM_194248.3(OTOF):c.730A>G (p.Met244Val) rs1443086050
NM_194248.3(OTOF):c.765+10C>T
NM_194248.3(OTOF):c.765+15G>A rs1666120082
NM_194248.3(OTOF):c.765+19G>T rs2465317626
NM_194248.3(OTOF):c.765+20C>A rs780941460
NM_194248.3(OTOF):c.765+20C>G rs780941460
NM_194248.3(OTOF):c.765+20C>T rs780941460
NM_194248.3(OTOF):c.765+2T>C rs2465317683
NM_194248.3(OTOF):c.766-10C>T rs1665947899
NM_194248.3(OTOF):c.766-192del rs113467224
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_194248.3(OTOF):c.79+17C>A rs2465491760
NM_194248.3(OTOF):c.79+18T>C rs2465491752
NM_194248.3(OTOF):c.79+7A>T rs1667651728
NM_194248.3(OTOF):c.791G>A (p.Arg264Gln) rs370475628
NM_194248.3(OTOF):c.791G>C (p.Arg264Pro) rs370475628
NM_194248.3(OTOF):c.799dup (p.Val267fs) rs1665946379
NM_194248.3(OTOF):c.80-20T>C rs2148122960
NM_194248.3(OTOF):c.80-2A>G rs1667109933
NM_194248.3(OTOF):c.80-6C>A rs909115607
NM_194248.3(OTOF):c.80-6C>T rs909115607
NM_194248.3(OTOF):c.80-7C>G
NM_194248.3(OTOF):c.822G>A (p.Val274=) rs2465304101
NM_194248.3(OTOF):c.822G>C (p.Val274=) rs2465304101
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_194248.3(OTOF):c.829_897+276delinsCTGTGAAAGAAC
NM_194248.3(OTOF):c.839del (p.Gly280fs) rs1665944825
NM_194248.3(OTOF):c.852G>A (p.Lys284=) rs2465304036
NM_194248.3(OTOF):c.885C>T (p.Pro295=) rs2465303970
NM_194248.3(OTOF):c.897+11C>T rs2465303911
NM_194248.3(OTOF):c.897+1G>A
NM_194248.3(OTOF):c.897+278_897+279insA rs150805853
NM_194248.3(OTOF):c.897+285_897+286insT rs1553356373
NM_194248.3(OTOF):c.898-10C>A rs375542050
NM_194248.3(OTOF):c.898-11del
NM_194248.3(OTOF):c.898-12T>C rs1665794488
NM_194248.3(OTOF):c.898-134G>A rs13409763
NM_194248.3(OTOF):c.898-13C>T rs1392583456
NM_194248.3(OTOF):c.898-2A>G rs2465291425
NM_194248.3(OTOF):c.898-54_898-37del rs576889634
NM_194248.3(OTOF):c.898-6C>A rs199687628
NM_194248.3(OTOF):c.898-6C>T rs199687628
NM_194248.3(OTOF):c.898-6del rs1321908130
NM_194248.3(OTOF):c.898-6dup rs1321908130
NM_194248.3(OTOF):c.921C>G (p.Val307=) rs1665792845
NM_194248.3(OTOF):c.921C>T (p.Val307=) rs1665792845
NM_194248.3(OTOF):c.93C>T (p.Tyr31=) rs2465422905
NM_194248.3(OTOF):c.957T>C (p.Ile319=) rs1414290631
NM_194248.3(OTOF):c.960+10G>C
NM_194248.3(OTOF):c.960+13C>T rs1470906713
NM_194248.3(OTOF):c.960+15G>A rs1304970777
NM_194248.3(OTOF):c.960+16C>A rs2465291206
NM_194248.3(OTOF):c.960+17C>G rs766748630
NM_194248.3(OTOF):c.960+1G>C rs2465291241
NM_194248.3(OTOF):c.960+20T>C rs763242993
NM_194248.3(OTOF):c.961-14G>A rs780782760
NM_194248.3(OTOF):c.961-8C>T rs1665778643
NM_194248.3(OTOF):c.97C>A (p.Arg33=) rs150867836
NM_194248.3(OTOF):c.97C>T (p.Arg33Trp) rs150867836
NM_194248.3(OTOF):c.990T>C (p.Ser330=) rs111283634
NM_194248.3(OTOF):c.993_1003del (p.Thr332fs) rs2465289706
NM_194248.3(OTOF):c.9G>A (p.Leu3=) rs779861554
NM_194323.3(OTOF):c.3519C>T (p.Pro1173=)
NM_194323.3(OTOF):c.3560_3562del (p.Ile1187del) rs754441026
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359
NM_194323.3(OTOF):c.3631A>T (p.Met1211Leu) rs1482726409
NM_194323.3(OTOF):c.3667A>G (p.Met1223Val)

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