ClinVar Miner

List of variants in gene OTOG reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 610
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.1451+106= rs1990180 0.99831
NM_001292063.2(OTOG):c.4087G>C (p.Ala1363Pro) rs7934079 0.76845
NM_001292063.2(OTOG):c.293-78T>C rs4757543 0.69724
NM_001292063.2(OTOG):c.1644+241T>A rs4757546 0.54591
NM_001292063.2(OTOG):c.2081-112A>T rs1076312 0.50978
NM_001292063.2(OTOG):c.2038T>C (p.Ser680Pro) rs7106548 0.47894
NM_001292063.2(OTOG):c.2868-221C>T rs720459 0.45200
NM_001292063.2(OTOG):c.2868-261G>C rs11825556 0.44268
NM_001292063.2(OTOG):c.6123+42T>C rs731783 0.43230
NM_001292063.2(OTOG):c.2293+75G>C rs757987 0.43146
NM_001292063.2(OTOG):c.2487-281C>T rs7104990 0.43010
NM_001292063.2(OTOG):c.4904C>T (p.Pro1635Leu) rs2041028 0.42330
NM_001292063.2(OTOG):c.217-218G>A rs10766410 0.41834
NM_001292063.2(OTOG):c.95-82C>G rs12360902 0.39656
NM_001292063.2(OTOG):c.5804C>T (p.Thr1935Met) rs7111528 0.39131
NM_001292063.2(OTOG):c.2293+60C>T rs757986 0.39125
NM_001292063.2(OTOG):c.1955+24C>T rs10832802 0.38692
NM_001292063.2(OTOG):c.2759+186G>A rs2355467 0.38499
NM_001292063.2(OTOG):c.2868-25T>G rs720460 0.38169
NM_001292063.2(OTOG):c.1214-83T>C rs10832798 0.38037
NM_001292063.2(OTOG):c.3007-201C>T rs1108626 0.37449
NM_001292063.2(OTOG):c.2340G>A (p.Pro780=) rs4757548 0.37391
NM_001292063.2(OTOG):c.2561+14G>A rs4756902 0.37182
NM_001292063.2(OTOG):c.1214-82C>T rs10832799 0.36399
NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=) rs10832824 0.35674
NM_001292063.2(OTOG):c.8364G>C (p.Leu2788=) rs2023483 0.35618
NM_001292063.2(OTOG):c.3006+213A>G rs734640 0.34297
NM_001292063.2(OTOG):c.2561+10G>A rs4756901 0.33002
NM_001292063.2(OTOG):c.2719G>A (p.Ala907Thr) rs2355466 0.32233
NM_001292063.2(OTOG):c.8190+162A>G rs12281125 0.30725
NM_001292063.2(OTOG):c.7796-287C>T rs4757556 0.30443
NM_001292063.2(OTOG):c.8415+69A>G rs2023484 0.25428
NM_001292063.2(OTOG):c.6934-63A>G rs2058003 0.25281
NM_001292063.2(OTOG):c.4355-111C>T rs740318 0.20555
NM_001292063.2(OTOG):c.8690G>C (p.Trp2897Ser) rs11024357 0.19620
NM_001292063.2(OTOG):c.*70G>T rs11024358 0.19461
NM_001292063.2(OTOG):c.997-35A>C rs7130051 0.17975
NM_001292063.2(OTOG):c.541-103C>T rs4757544 0.17663
NM_001292063.2(OTOG):c.3526-100C>T rs7126777 0.17568
NM_001292063.2(OTOG):c.1644+69G>A rs4757545 0.15868
NM_001292063.2(OTOG):c.7480+11A>T rs12277962 0.15041
NM_001292063.2(OTOG):c.3007-327G>T rs11024332 0.14675
NM_001292063.2(OTOG):c.6712+185A>G rs61880563 0.14485
NM_001292063.2(OTOG):c.8415+312T>G rs7930435 0.14161
NM_001292063.2(OTOG):c.7481-243A>G rs11024349 0.13929
NM_001292063.2(OTOG):c.3408+15C>T rs7936484 0.13858
NM_001292063.2(OTOG):c.3188G>A (p.Arg1063Gln) rs11024333 0.13789
NM_001292063.2(OTOG):c.216+126A>G rs58569858 0.13600
NM_001292063.2(OTOG):c.6439-238C>T rs7123459 0.13507
NM_001292063.2(OTOG):c.1087A>T (p.Thr363Ser) rs7130190 0.13498
NM_001292063.2(OTOG):c.917C>A (p.Ala306Asp) rs61611064 0.12907
NM_001292063.2(OTOG):c.1644+231_1644+232insG rs56322220 0.12887
NM_001292063.2(OTOG):c.2606-193G>A rs7949484 0.12761
NM_001292063.2(OTOG):c.8213G>A (p.Arg2738Gln) rs12422210 0.11601
NM_001292063.2(OTOG):c.7645C>T (p.Leu2549=) rs11024350 0.11420
NM_001292063.2(OTOG):c.148C>G (p.Gln50Glu) rs76186800 0.11414
NM_001292063.2(OTOG):c.7894+85G>A rs12290375 0.11116
NM_001292063.2(OTOG):c.237C>T (p.Ser79=) rs11823045 0.09978
NM_001292063.2(OTOG):c.6439-242T>C rs201328670 0.09880
NM_001292063.2(OTOG):c.4157-276G>A rs7127953 0.09064
NM_001292063.2(OTOG):c.7935+113G>A rs7928233 0.08763
NM_001292063.2(OTOG):c.1644+241del rs1229652239 0.08363
NM_001292063.2(OTOG):c.1644+243T>A rs1300677731 0.08308
NM_001292063.2(OTOG):c.1644+241_1644+245del rs771191112 0.06414
NM_001292063.2(OTOG):c.2759+123C>T rs114425694 0.05463
NM_001292063.2(OTOG):c.3234C>A (p.Thr1078=) rs875696 0.05453
NM_001292063.2(OTOG):c.2605+183C>T rs76795280 0.05447
NM_001292063.2(OTOG):c.2606-121G>A rs7949599 0.05442
NM_001292063.2(OTOG):c.1644+241_1644+247del rs1447320384 0.05384
NM_001292063.2(OTOG):c.1956-298C>T rs7117645 0.05288
NM_001292063.2(OTOG):c.2294-251G>A rs7950303 0.05275
NM_001292063.2(OTOG):c.6292+54G>A rs76583012 0.05266
NM_001292063.2(OTOG):c.1940C>T (p.Thr647Met) rs7112749 0.04971
NM_001292063.2(OTOG):c.2080+333C>G rs7943088 0.04870
NM_001292063.2(OTOG):c.3289-38A>C rs11024334 0.04822
NM_001292063.2(OTOG):c.2868-109T>A rs10488684 0.04605
NM_001292063.2(OTOG):c.1644+243_1644+245del rs1565093561 0.04399
NM_001292063.2(OTOG):c.3299C>T (p.Ala1100Val) rs7936324 0.04354
NM_001292063.2(OTOG):c.3683-150A>G rs11823125 0.04259
NM_001292063.2(OTOG):c.3350C>T (p.Pro1117Leu) rs7936354 0.04257
NM_001292063.2(OTOG):c.1343-305C>T rs7944456 0.04232
NM_001292063.2(OTOG):c.1343-297C>T rs7944460 0.04230
NM_001292063.2(OTOG):c.1342+68G>A rs75518739 0.04217
NM_001292063.2(OTOG):c.2080+51C>T rs12098886 0.04042
NM_001292063.2(OTOG):c.7894+8C>T rs11024353 0.03832
NM_001292063.2(OTOG):c.1158G>A (p.Ala386=) rs61731248 0.03769
NM_001292063.2(OTOG):c.7894+33G>A rs55858137 0.03687
NM_001292063.2(OTOG):c.3006+272A>G rs60370273 0.03609
NM_001292063.2(OTOG):c.7062T>C (p.Ser2354=) rs7114549 0.03608
NM_001292063.2(OTOG):c.7400G>A (p.Arg2467His) rs61743165 0.03602
NM_001292063.2(OTOG):c.3709+239G>A rs80080197 0.03600
NM_001292063.2(OTOG):c.6124-73G>T rs77217986 0.03510
NM_001292063.2(OTOG):c.7694-125A>G rs7948744 0.03445
NM_001292063.2(OTOG):c.1104-68A>G rs74370915 0.03356
NM_001292063.2(OTOG):c.7535G>A (p.Arg2512His) rs114242958 0.03332
NC_000011.10:g.17547064A>G rs12282938 0.03247
NM_001292063.2(OTOG):c.3877+199C>T rs11820459 0.03135
NM_001292063.2(OTOG):c.4274+225C>A rs80137424 0.03132
NM_001292063.2(OTOG):c.3682+186A>G rs77481589 0.03093
NM_001292063.2(OTOG):c.3409-117A>G rs11820576 0.03083
NM_001292063.2(OTOG):c.7795+216C>T rs11825102 0.03079
NM_001292063.2(OTOG):c.6713-311G>T rs535063069 0.03017
NM_001292063.2(OTOG):c.8191-168T>C rs77824774 0.02914
NM_001292063.2(OTOG):c.688G>A (p.Ala230Thr) rs61910753 0.02905
NM_001292063.2(OTOG):c.1645-63C>T rs16934402 0.02615
NM_001292063.2(OTOG):c.541-241G>A rs115211278 0.02425
NM_001292063.2(OTOG):c.6934-52A>G rs116359868 0.02281
NM_001292063.2(OTOG):c.6123+146C>A rs7937114 0.02236
NM_001292063.2(OTOG):c.8262C>T (p.Phe2754=) rs61730948 0.02228
NM_001292063.2(OTOG):c.769G>A (p.Val257Ile) rs61978648 0.02169
NM_001292063.2(OTOG):c.2274C>T (p.Arg758=) rs16934404 0.02154
NM_001292063.2(OTOG):c.2080+157T>G rs116006748 0.02139
NM_001292063.2(OTOG):c.6439-239_6439-238insTT rs760034953 0.02050
NM_001292063.2(OTOG):c.292+127C>G rs78554283 0.02045
NM_001292063.2(OTOG):c.293-294C>T rs77289919 0.02041
NM_001292063.2(OTOG):c.3525+37C>T rs117718159 0.02018
NM_001292063.2(OTOG):c.106G>A (p.Val36Ile) rs77311172 0.01897
NM_001292063.2(OTOG):c.3710-273C>T rs73418086 0.01846
NM_001292063.2(OTOG):c.1104-164G>A rs112391811 0.01777
NM_001292063.2(OTOG):c.996+78C>G rs77000633 0.01766
NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn) rs61997203 0.01716
NM_001292063.2(OTOG):c.2487-101C>T rs114042770 0.01702
NM_001292063.2(OTOG):c.144C>G (p.Ala48=) rs58448442 0.01699
NM_001292063.2(OTOG):c.2080+220T>C rs7932300 0.01679
NM_001292063.2(OTOG):c.7330G>A (p.Gly2444Ser) rs61745322 0.01656
NM_001292063.2(OTOG):c.2081-70A>G rs140774757 0.01591
NM_001292063.2(OTOG):c.1955+90G>A rs79748590 0.01504
NM_001292063.2(OTOG):c.2772C>T (p.His924=) rs61910692 0.01477
NM_001292063.2(OTOG):c.292+10A>T rs141597314 0.01457
NM_001292063.2(OTOG):c.1955+268C>A rs150789061 0.01310
NM_001292063.2(OTOG):c.4157-135T>C rs113019435 0.01270
NM_001292063.2(OTOG):c.2739G>A (p.Ser913=) rs55881341 0.01235
NM_001292063.2(OTOG):c.94+37G>A rs111425080 0.01215
NM_001292063.2(OTOG):c.7480+118G>C rs116447601 0.01110
NM_001292063.2(OTOG):c.8462-55T>C rs76783895 0.01083
NM_001292063.2(OTOG):c.4274+106G>A rs7131514 0.01030
NM_001292063.2(OTOG):c.6124-193C>T rs76604911 0.01017
NM_001292063.2(OTOG):c.6438+283A>T rs7105215 0.01012
NM_001292063.2(OTOG):c.3423C>T (p.Leu1141=) rs7122875 0.00974
NM_001292063.2(OTOG):c.5768T>C (p.Met1923Thr) rs61732913 0.00944
NM_001292063.2(OTOG):c.2512G>C (p.Gly838Arg) rs61734214 0.00925
NM_001292063.2(OTOG):c.3096C>T (p.Asn1032=) rs75133799 0.00891
NM_001292063.2(OTOG):c.6712+264C>T rs116817711 0.00868
NM_001292063.2(OTOG):c.6293-7C>T rs143985593 0.00862
NM_001292063.2(OTOG):c.6775G>A (p.Ala2259Thr) rs116503251 0.00835
NM_001292063.2(OTOG):c.292+165G>T rs7929777 0.00819
NM_001292063.2(OTOG):c.4606C>T (p.Leu1536Phe) rs117380920 0.00806
NM_001292063.2(OTOG):c.1499-240A>G rs11024321 0.00768
NM_001292063.2(OTOG):c.1644+243del rs1565093559 0.00764
NM_001292063.2(OTOG):c.1644+247T>A rs867603310 0.00755
NM_001292063.2(OTOG):c.7795+202G>A rs116517987 0.00744
NM_001292063.2(OTOG):c.8542-24G>T rs35734300 0.00739
NM_001292063.2(OTOG):c.996+9C>A rs147843540 0.00730
NM_001292063.2(OTOG):c.541-88G>A rs113621001 0.00710
NM_001292063.2(OTOG):c.866-81C>T rs74446703 0.00710
NM_001292063.2(OTOG):c.5235C>A (p.Leu1745=) rs193083374 0.00701
NM_001292063.2(OTOG):c.1797G>A (p.Arg599=) rs73418068 0.00690
NM_001292063.2(OTOG):c.21G>A (p.Ala7=) rs149500671 0.00685
NM_001292063.2(OTOG):c.5828C>T (p.Thr1943Met) rs75677194 0.00673
NM_001292063.2(OTOG):c.1342+43G>A rs145649198 0.00669
NM_001292063.2(OTOG):c.8168T>C (p.Leu2723Pro) rs180703235 0.00643
NM_001292063.2(OTOG):c.3351G>A (p.Pro1117=) rs146781877 0.00639
NM_001292063.2(OTOG):c.8416-205C>T rs140771924 0.00628
NM_001292063.2(OTOG):c.6326T>C (p.Val2109Ala) rs182000850 0.00608
NM_001292063.2(OTOG):c.1215T>C (p.Thr405=) rs73418062 0.00603
NM_001292063.2(OTOG):c.7936-77G>A rs140204160 0.00593
NM_001292063.2(OTOG):c.1498+33C>T rs150977482 0.00570
NM_001292063.2(OTOG):c.8542-8C>T rs182750732 0.00565
NM_001292063.2(OTOG):c.3878-245A>G rs149761970 0.00562
NM_001292063.2(OTOG):c.1644+241_1644+249del rs1378855573 0.00553
NM_001292063.2(OTOG):c.540+173C>A rs188778961 0.00542
NM_001292063.2(OTOG):c.385+7C>T rs139222878 0.00540
NM_001292063.2(OTOG):c.541-21G>A rs182765833 0.00535
NM_001292063.2(OTOG):c.7825C>A (p.Gln2609Lys) rs61995750 0.00485
NM_001292063.2(OTOG):c.8415+111C>T rs182620196 0.00473
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr) rs113745835 0.00467
NM_001292063.2(OTOG):c.7045A>G (p.Ile2349Val) rs191722806 0.00457
NM_001292063.2(OTOG):c.7072+291C>G rs151105465 0.00457
NM_001292063.2(OTOG):c.7693+142C>G rs114450252 0.00456
NM_001292063.2(OTOG):c.3006+52C>A rs113025364 0.00455
NM_001292063.2(OTOG):c.7072+41del rs377300677 0.00453
NM_001292063.2(OTOG):c.3525+10C>A rs113275496 0.00451
NM_001292063.2(OTOG):c.2760-331C>G rs11024328 0.00437
NM_001292063.2(OTOG):c.1343-57G>A rs76731168 0.00432
NM_001292063.2(OTOG):c.659+210G>A rs138749442 0.00429
NM_001292063.2(OTOG):c.6438+316G>A rs74729979 0.00428
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys) rs567966154 0.00428
NM_001292063.2(OTOG):c.3674G>A (p.Arg1225His) rs116947228 0.00420
NM_001292063.2(OTOG):c.7795+25G>A rs570522245 0.00417
NM_001292063.2(OTOG):c.4157-240C>T rs141491606 0.00412
NM_001292063.2(OTOG):c.866-295G>A rs78455645 0.00402
NM_001292063.2(OTOG):c.2967G>A (p.Pro989=) rs11024331 0.00392
NM_001292063.2(OTOG):c.7936-35C>T rs185592587 0.00390
NM_001292063.2(OTOG):c.1343-272G>A rs143931543 0.00389
NM_001292063.2(OTOG):c.6439-46C>T rs146984141 0.00386
NM_001292063.2(OTOG):c.1059C>T (p.Val353=) rs74921579 0.00385
NM_001292063.2(OTOG):c.534C>T (p.Ser178=) rs61995706 0.00371
NM_001292063.2(OTOG):c.1645-25C>T rs190248747 0.00358
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu) rs117005078 0.00338
NM_001292063.2(OTOG):c.639G>T (p.Glu213Asp) rs61736015 0.00315
NM_001292063.2(OTOG):c.843G>A (p.Lys281=) rs570688276 0.00312
NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln) rs76461792 0.00308
NM_001292063.2(OTOG):c.1213+14A>C rs143302987 0.00290
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn) rs141010212 0.00287
NM_001292063.2(OTOG):c.1956-299G>A rs142809427 0.00283
NM_001292063.2(OTOG):c.7894+28C>T rs140239162 0.00279
NM_001292063.2(OTOG):c.2081-291C>T rs75878419 0.00276
NM_001292063.2(OTOG):c.6529-47G>C rs111237302 0.00261
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_001292063.2(OTOG):c.1104-4A>C rs149163390 0.00257
NM_001292063.2(OTOG):c.2605+255G>A rs536400381 0.00257
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
NM_001292063.2(OTOG):c.4022G>A (p.Arg1341Gln) rs145689709 0.00242
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_001292063.2(OTOG):c.1340A>G (p.Asn447Ser) rs115772736 0.00238
NM_001292063.2(OTOG):c.1397T>G (p.Phe466Cys) rs147355325 0.00232
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001292063.2(OTOG):c.1644+232A>G rs74436205 0.00227
NM_001292063.2(OTOG):c.5694A>G (p.Val1898=) rs573436885 0.00223
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_001292063.2(OTOG):c.5549C>G (p.Pro1850Arg) rs376684690 0.00210
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_001292063.2(OTOG):c.7650C>T (p.Ile2550=) rs187445787 0.00200
NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His) rs117315845 0.00188
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_001292063.2(OTOG):c.3618C>T (p.Ser1206=) rs143393149 0.00179
NM_001292063.2(OTOG):c.1285C>T (p.Arg429Trp) rs199968574 0.00166
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His) rs185432248 0.00122
NM_001292063.2(OTOG):c.6907C>T (p.Arg2303Cys) rs568549806 0.00109
NM_001292063.2(OTOG):c.6012C>T (p.Asp2004=) rs61734252 0.00103
NM_001292063.2(OTOG):c.1286G>A (p.Arg429Gln) rs528799547 0.00100
NM_001292063.2(OTOG):c.5121T>G (p.Val1707=) rs563661860 0.00095
NM_001292063.2(OTOG):c.2868-3C>T rs565665118 0.00093
NM_001292063.2(OTOG):c.4262G>A (p.Arg1421Gln) rs778218478 0.00093
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001292063.2(OTOG):c.4314C>T (p.Val1438=) rs150138913 0.00088
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00081
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001292063.2(OTOG):c.7254G>A (p.Pro2418=) rs556820669 0.00072
NM_001292063.2(OTOG):c.2249G>A (p.Arg750His) rs112634925 0.00071
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr) rs545740473 0.00067
NM_001292063.2(OTOG):c.426G>A (p.Ala142=) rs548971081 0.00066
NM_001292063.2(OTOG):c.879C>T (p.Asp293=) rs144220847 0.00063
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser) rs368261417 0.00061
NM_001292063.2(OTOG):c.7324C>G (p.Leu2442Val) rs573071858 0.00061
NM_001292063.2(OTOG):c.8538C>T (p.Thr2846=) rs201952556 0.00061
NM_001292063.2(OTOG):c.591T>G (p.Ala197=) rs562856597 0.00060
NM_001292063.2(OTOG):c.173C>T (p.Ala58Val) rs572827464 0.00059
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
NM_001292063.2(OTOG):c.7534C>T (p.Arg2512Cys) rs533820347 0.00056
NM_001292063.2(OTOG):c.8477G>A (p.Arg2826His) rs544815967 0.00056
NM_001292063.2(OTOG):c.516C>T (p.Pro172=) rs149868055 0.00055
NM_001292063.2(OTOG):c.1700G>A (p.Arg567Gln) rs142253169 0.00054
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser) rs147052893 0.00054
NM_001292063.2(OTOG):c.1050C>T (p.His350=) rs575344158 0.00053
NM_001292063.2(OTOG):c.2405T>A (p.Leu802Gln) rs144972211 0.00053
NM_001292063.2(OTOG):c.1323C>T (p.Asp441=) rs571886426 0.00051
NM_001292063.2(OTOG):c.2113A>G (p.Thr705Ala) rs562612507 0.00051
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser) rs543999548 0.00051
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met) rs542442173 0.00051
NM_001292063.2(OTOG):c.7935+11G>A rs188456860 0.00050
NM_001292063.2(OTOG):c.1213+38G>C rs373282902 0.00048
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp) rs559512010 0.00048
NM_001292063.2(OTOG):c.7209C>T (p.Ser2403=) rs56236649 0.00048
NM_001292063.2(OTOG):c.8322C>T (p.Cys2774=) rs539684481 0.00048
NM_001292063.2(OTOG):c.94+75G>T rs550807341 0.00045
NM_001292063.2(OTOG):c.1369G>A (p.Val457Met) rs756129872 0.00043
NM_001292063.2(OTOG):c.3417C>T (p.Asp1139=) rs149548384 0.00043
NM_001292063.2(OTOG):c.4900C>A (p.Pro1634Thr) rs569097813 0.00043
NM_001292063.2(OTOG):c.6669G>T (p.Val2223=) rs375157277 0.00041
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp) rs200215464 0.00040
NM_001292063.2(OTOG):c.5966C>G (p.Ala1989Gly) rs577901245 0.00038
NM_001292063.2(OTOG):c.7866C>T (p.Pro2622=) rs200566292 0.00036
NM_001292063.2(OTOG):c.8428G>A (p.Val2810Met) rs560697197 0.00036
NM_001292063.2(OTOG):c.1623G>A (p.Leu541=) rs755383141 0.00035
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile) rs545321215 0.00035
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser) rs547173007 0.00033
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val) rs114417076 0.00033
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=) rs545896255 0.00032
NM_001292063.2(OTOG):c.6934-10A>G rs543721711 0.00031
NM_001292063.2(OTOG):c.5432C>T (p.Ala1811Val) rs779658224 0.00029
NM_001292063.2(OTOG):c.6536T>C (p.Val2179Ala) rs770039471 0.00029
NM_001292063.2(OTOG):c.8022G>A (p.Pro2674=) rs753850661 0.00027
NM_001292063.2(OTOG):c.6515G>A (p.Arg2172His) rs555068328 0.00026
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro) rs563003848 0.00026
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001292063.2(OTOG):c.2214C>T (p.Cys738=) rs529043916 0.00024
NM_001292063.2(OTOG):c.6575G>T (p.Gly2192Val) rs536834261 0.00024
NM_001292063.2(OTOG):c.8427C>T (p.Ser2809=) rs1038235034 0.00024
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro) rs778687487 0.00023
NM_001292063.2(OTOG):c.6713-26T>A rs199713176 0.00023
NM_001292063.2(OTOG):c.6124-23C>T rs139211526 0.00022
NM_001292063.2(OTOG):c.8202C>T (p.Tyr2734=) rs747451945 0.00022
NM_001292063.2(OTOG):c.292+4A>C rs535970426 0.00021
NM_001292063.2(OTOG):c.3335A>G (p.Asn1112Ser) rs571215839 0.00021
NM_001292063.2(OTOG):c.920C>T (p.Pro307Leu) rs755684934 0.00021
NM_001292063.2(OTOG):c.2263G>A (p.Val755Ile) rs138477595 0.00020
NM_001292063.2(OTOG):c.3751G>A (p.Gly1251Ser) rs769211682 0.00020
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001292063.2(OTOG):c.1760T>C (p.Ile587Thr) rs751269089 0.00019
NM_001292063.2(OTOG):c.310A>G (p.Asn104Asp) rs750971564 0.00019
NM_001292063.2(OTOG):c.4866C>T (p.Val1622=) rs780581249 0.00019
NM_001292063.2(OTOG):c.7461C>T (p.Cys2487=) rs530992812 0.00019
NM_001292063.2(OTOG):c.7878C>G (p.Cys2626Trp) rs528655967 0.00019
NM_001292063.2(OTOG):c.1205G>A (p.Arg402Gln) rs753910841 0.00018
NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met) rs748497956 0.00018
NM_001292063.2(OTOG):c.93C>T (p.Leu31=) rs776961395 0.00018
NM_001292063.2(OTOG):c.2300C>T (p.Ser767Phe) rs751618218 0.00017
NM_001292063.2(OTOG):c.2947C>T (p.Arg983Cys) rs556631973 0.00016
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu) rs542646349 0.00016
NM_001292063.2(OTOG):c.4013G>A (p.Arg1338Gln) rs767859660 0.00016
NM_001292063.2(OTOG):c.76C>T (p.Leu26=) rs947155842 0.00016
NM_001292063.2(OTOG):c.8327G>A (p.Arg2776His) rs558314848 0.00016
NM_001292063.2(OTOG):c.4204G>A (p.Asp1402Asn) rs934642427 0.00015
NM_001292063.2(OTOG):c.8633G>A (p.Arg2878His) rs375127426 0.00015
NM_001292063.2(OTOG):c.3359T>C (p.Leu1120Pro) rs757588809 0.00014
NM_001292063.2(OTOG):c.5919G>A (p.Thr1973=) rs570611759 0.00014
NM_001292063.2(OTOG):c.6296G>A (p.Arg2099Gln) rs757628662 0.00014
NM_001292063.2(OTOG):c.550G>A (p.Asp184Asn) rs748075389 0.00013
NM_001292063.2(OTOG):c.6130G>A (p.Ala2044Thr) rs750356823 0.00013
NM_001292063.2(OTOG):c.7542C>G (p.Leu2514=) rs752641698 0.00013
NM_001292063.2(OTOG):c.7586-13G>A rs772570995 0.00013
NM_001292063.2(OTOG):c.8345C>T (p.Thr2782Met) rs188322721 0.00013
NM_001292063.2(OTOG):c.883G>A (p.Val295Met) rs186310325 0.00013
NM_001292063.2(OTOG):c.2080+5G>C rs765790706 0.00012
NM_001292063.2(OTOG):c.5577G>A (p.Ala1859=) rs754862622 0.00012
NM_001292063.2(OTOG):c.1594C>T (p.Arg532Cys) rs758092389 0.00011
NM_001292063.2(OTOG):c.1697C>G (p.Pro566Arg) rs765026050 0.00011
NM_001292063.2(OTOG):c.2331C>T (p.Cys777=) rs147247967 0.00011
NM_001292063.2(OTOG):c.8358C>T (p.Ala2786=) rs573309373 0.00011
NM_001292063.2(OTOG):c.4612G>A (p.Ala1538Thr) rs756067622 0.00010
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001292063.2(OTOG):c.94+76C>T rs568988885 0.00010
NM_001292063.2(OTOG):c.2294-7A>G rs200998174 0.00009
NM_001292063.2(OTOG):c.286C>G (p.Pro96Ala) rs567428169 0.00009
NM_001292063.2(OTOG):c.3973C>T (p.Arg1325Cys) rs557335789 0.00009
NM_001292063.2(OTOG):c.4582A>T (p.Thr1528Ser) rs747022159 0.00009
NM_001292063.2(OTOG):c.4726A>G (p.Thr1576Ala) rs531217323 0.00009
NM_001292063.2(OTOG):c.7054C>T (p.Arg2352Trp) rs756364973 0.00009
NM_001292063.2(OTOG):c.8252C>T (p.Ser2751Phe) rs201728749 0.00009
NM_001292063.2(OTOG):c.13G>A (p.Ala5Thr) rs533327958 0.00008
NM_001292063.2(OTOG):c.8541+5G>A rs754883697 0.00008
NM_001292063.2(OTOG):c.1644+5G>C rs770129150 0.00007
NM_001292063.2(OTOG):c.1652A>G (p.Asp551Gly) rs1477235426 0.00007
NM_001292063.2(OTOG):c.421C>T (p.Arg141Trp) rs752392477 0.00007
NM_001292063.2(OTOG):c.5981C>T (p.Ala1994Val) rs11024341 0.00007
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) rs751369871 0.00007
NM_001292063.2(OTOG):c.1932T>C (p.Asn644=) rs559694792 0.00006
NM_001292063.2(OTOG):c.2463C>G (p.Thr821=) rs771404689 0.00006
NM_001292063.2(OTOG):c.3300G>A (p.Ala1100=) rs539192142 0.00006
NM_001292063.2(OTOG):c.5185G>A (p.Gly1729Arg) rs368666159 0.00006
NM_001292063.2(OTOG):c.5380C>T (p.Arg1794Cys) rs1246889104 0.00006
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met) rs758489218 0.00006
NM_001292063.2(OTOG):c.966G>A (p.Pro322=) rs749267915 0.00006
NM_001292063.2(OTOG):c.2293+8C>T rs1027542414 0.00005
NM_001292063.2(OTOG):c.3521C>T (p.Pro1174Leu) rs775584403 0.00005
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter) rs560339163 0.00005
NM_001292063.2(OTOG):c.5626C>T (p.Leu1876=) rs748088599 0.00005
NM_001292063.2(OTOG):c.5753C>T (p.Ser1918Phe) rs866380872 0.00005
NM_001292063.2(OTOG):c.8577C>T (p.Ser2859=) rs931856983 0.00005
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001292063.2(OTOG):c.1378G>C (p.Ala460Pro) rs764070352 0.00004
NM_001292063.2(OTOG):c.2233G>A (p.Ala745Thr) rs1351372831 0.00004
NM_001292063.2(OTOG):c.2713G>A (p.Val905Met) rs767006121 0.00004
NM_001292063.2(OTOG):c.3430C>T (p.Arg1144Trp) rs548446522 0.00004
NM_001292063.2(OTOG):c.4603G>A (p.Glu1535Lys) rs1379648118 0.00004
NM_001292063.2(OTOG):c.6217C>T (p.Pro2073Ser) rs752786692 0.00004
NM_001292063.2(OTOG):c.6444C>T (p.His2148=) rs776163972 0.00004
NM_001292063.2(OTOG):c.6712G>A (p.Gly2238Ser) rs763848795 0.00004
NM_001292063.2(OTOG):c.8472T>C (p.Asp2824=) rs940623349 0.00004
NM_001292063.2(OTOG):c.8653C>T (p.Arg2885Cys) rs185641221 0.00004
NM_001292063.2(OTOG):c.1295G>A (p.Cys432Tyr) rs1432190265 0.00003
NM_001292063.2(OTOG):c.2036T>C (p.Val679Ala) rs1182616691 0.00003
NM_001292063.2(OTOG):c.2783G>A (p.Cys928Tyr) rs1309976795 0.00003
NM_001292063.2(OTOG):c.3665G>A (p.Arg1222Gln) rs574498870 0.00003
NM_001292063.2(OTOG):c.4129C>T (p.Arg1377Cys) rs764931529 0.00003
NM_001292063.2(OTOG):c.5056C>T (p.Gln1686Ter) rs930688767 0.00003
NM_001292063.2(OTOG):c.7229G>A (p.Arg2410Gln) rs538832087 0.00003
NM_001292063.2(OTOG):c.7464C>T (p.Cys2488=) rs774023506 0.00003
NM_001292063.2(OTOG):c.8114C>T (p.Thr2705Ile) rs547179694 0.00003
NM_001292063.2(OTOG):c.1855C>T (p.Arg619Cys) rs909124808 0.00002
NM_001292063.2(OTOG):c.2026T>C (p.Ser676Pro) rs564978061 0.00002
NM_001292063.2(OTOG):c.2272C>T (p.Arg758Cys) rs1184434567 0.00002
NM_001292063.2(OTOG):c.2782T>C (p.Cys928Arg) rs1011979116 0.00002
NM_001292063.2(OTOG):c.5759C>A (p.Pro1920His) rs1191107652 0.00002
NM_001292063.2(OTOG):c.6560C>T (p.Pro2187Leu) rs963466460 0.00002
NM_001292063.2(OTOG):c.6701A>G (p.His2234Arg) rs544487442 0.00002
NM_001292063.2(OTOG):c.7417C>T (p.Arg2473Ter) rs866476223 0.00002
NM_001292063.2(OTOG):c.7800T>C (p.Cys2600=) rs1333602999 0.00002
NM_001292063.2(OTOG):c.8368C>T (p.Arg2790Cys) rs952407320 0.00002
NM_001292063.2(OTOG):c.8418T>G (p.Val2806=) rs765249997 0.00002
NM_001292063.2(OTOG):c.1148A>G (p.Tyr383Cys) rs1007369140 0.00001
NM_001292063.2(OTOG):c.1156G>A (p.Ala386Thr) rs994364425 0.00001
NM_001292063.2(OTOG):c.1280A>G (p.His427Arg) rs1346823523 0.00001
NM_001292063.2(OTOG):c.2530G>A (p.Gly844Arg) rs867715728 0.00001
NM_001292063.2(OTOG):c.2625C>G (p.Gly875=) rs876657552 0.00001
NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp) rs1260548574 0.00001
NM_001292063.2(OTOG):c.2740G>A (p.Gly914Ser) rs1429660705 0.00001
NM_001292063.2(OTOG):c.2883C>T (p.Gly961=) rs893483749 0.00001
NM_001292063.2(OTOG):c.2885C>T (p.Ser962Leu) rs750521452 0.00001
NM_001292063.2(OTOG):c.294C>G (p.Tyr98Ter) rs574007567 0.00001
NM_001292063.2(OTOG):c.3109C>T (p.Leu1037Phe) rs866755719 0.00001
NM_001292063.2(OTOG):c.3124G>T (p.Asp1042Tyr) rs973728066 0.00001
NM_001292063.2(OTOG):c.3212A>C (p.His1071Pro) rs755488549 0.00001
NM_001292063.2(OTOG):c.3336T>C (p.Asn1112=) rs1465273332 0.00001
NM_001292063.2(OTOG):c.3424G>A (p.Asp1142Asn) rs1013694969 0.00001
NM_001292063.2(OTOG):c.358A>G (p.Asn120Asp) rs778084555 0.00001
NM_001292063.2(OTOG):c.3668C>T (p.Thr1223Ile) rs938096068 0.00001
NM_001292063.2(OTOG):c.3735A>C (p.Leu1245=) rs1030164887 0.00001
NM_001292063.2(OTOG):c.3834G>A (p.Val1278=) rs527500084 0.00001
NM_001292063.2(OTOG):c.3931G>A (p.Val1311Ile) rs778865165 0.00001
NM_001292063.2(OTOG):c.4405C>G (p.Leu1469Val) rs1167218241 0.00001
NM_001292063.2(OTOG):c.441C>T (p.His147=) rs567294014 0.00001
NM_001292063.2(OTOG):c.4495C>G (p.Leu1499Val) rs1426955815 0.00001
NM_001292063.2(OTOG):c.4657G>T (p.Gly1553Ter) rs897822685 0.00001
NM_001292063.2(OTOG):c.4922C>T (p.Ala1641Val) rs979185551 0.00001
NM_001292063.2(OTOG):c.494C>A (p.Thr165Asn) rs1396310498 0.00001
NM_001292063.2(OTOG):c.5052C>T (p.Pro1684=) rs559123807 0.00001
NM_001292063.2(OTOG):c.5073A>C (p.Ser1691=) rs1049172228 0.00001
NM_001292063.2(OTOG):c.6436C>T (p.Leu2146=) rs1242394086 0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001292063.2(OTOG):c.6527A>G (p.Lys2176Arg) rs931554933 0.00001
NM_001292063.2(OTOG):c.6608T>A (p.Met2203Lys) rs1311003002 0.00001
NM_001292063.2(OTOG):c.6713-7C>G rs561870608 0.00001
NM_001292063.2(OTOG):c.6713G>A (p.Gly2238Asp) rs528937385 0.00001
NM_001292063.2(OTOG):c.6908G>A (p.Arg2303His) rs1373360779 0.00001
NM_001292063.2(OTOG):c.698A>G (p.Gln233Arg) rs905156944 0.00001
NM_001292063.2(OTOG):c.7168C>T (p.Pro2390Ser) rs1029912817 0.00001
NM_001292063.2(OTOG):c.7722C>T (p.Pro2574=) rs1260956852 0.00001
NM_001292063.2(OTOG):c.7925G>A (p.Arg2642Gln) rs995727074 0.00001
NM_001292063.2(OTOG):c.8129C>T (p.Pro2710Leu) rs767832989 0.00001
NM_001292063.2(OTOG):c.8221G>C (p.Ala2741Pro) rs1437609507 0.00001
NM_001292063.2(OTOG):c.8336G>T (p.Cys2779Phe) rs895157683 0.00001
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001292063.2(OTOG):c.1000G>A (p.Val334Met) rs553254322
NM_001292063.2(OTOG):c.1005C>G (p.Tyr335Ter) rs577674003
NM_001292063.2(OTOG):c.1169C>T (p.Ala390Val) rs1326511501
NM_001292063.2(OTOG):c.1200G>C (p.Gln400His)
NM_001292063.2(OTOG):c.1342+109GGAG[4] rs372014625
NM_001292063.2(OTOG):c.1342+18G>A rs76467342
NM_001292063.2(OTOG):c.1342+203GAAG[3] rs143683334
NM_001292063.2(OTOG):c.1342+222G>C rs10832800
NM_001292063.2(OTOG):c.1342+249_1342+250insAGAAGGAAGGGAGGAAGAAAA rs371913412
NM_001292063.2(OTOG):c.1342+267GGAA[3] rs748854211
NM_001292063.2(OTOG):c.1342+267_1342+268insAAGAAAAGGAAAGAAGGAAGGGAGG rs1554968739
NM_001292063.2(OTOG):c.1353C>A (p.Phe451Leu) rs189947237
NM_001292063.2(OTOG):c.1382A>C (p.Glu461Ala)
NM_001292063.2(OTOG):c.1498+92G>A rs79574062
NM_001292063.2(OTOG):c.1507T>C (p.Ser503Pro) rs2134011193
NM_001292063.2(OTOG):c.1549C>G (p.Arg517Gly)
NM_001292063.2(OTOG):c.1572T>C (p.Cys524=) rs1257902336
NM_001292063.2(OTOG):c.1595G>T (p.Arg532Leu)
NM_001292063.2(OTOG):c.15G>A (p.Ala5=)
NM_001292063.2(OTOG):c.1639G>A (p.Gly547Ser)
NM_001292063.2(OTOG):c.1644+231_1644+232insGA rs1554969038
NM_001292063.2(OTOG):c.1644+239_1644+240dup rs560554139
NM_001292063.2(OTOG):c.1644+239_1644+248del rs1191650715
NM_001292063.2(OTOG):c.1644+240AT[10] rs375919593
NM_001292063.2(OTOG):c.1644+240AT[11] rs375919593
NM_001292063.2(OTOG):c.1644+240AT[14] rs375919593
NM_001292063.2(OTOG):c.1644+240AT[8] rs375919593
NM_001292063.2(OTOG):c.1644+240dup rs560554139
NM_001292063.2(OTOG):c.1644+36G>A
NM_001292063.2(OTOG):c.1645-306A>C rs11822596
NM_001292063.2(OTOG):c.1813C>T (p.Leu605=) rs2134022507
NM_001292063.2(OTOG):c.1852G>T (p.Asp618Tyr)
NM_001292063.2(OTOG):c.1A>G (p.Met1Val) rs953945741
NM_001292063.2(OTOG):c.2107G>A (p.Val703Met)
NM_001292063.2(OTOG):c.216+225_216+244del rs56402246
NM_001292063.2(OTOG):c.216+226_216+244del rs56402246
NM_001292063.2(OTOG):c.216+229_216+244del rs56402246
NM_001292063.2(OTOG):c.216+231_216+244del rs56402246
NM_001292063.2(OTOG):c.216+234_216+244del rs56402246
NM_001292063.2(OTOG):c.216+244T>A rs947297014
NM_001292063.2(OTOG):c.2176C>T (p.Arg726Cys)
NM_001292063.2(OTOG):c.220G>A (p.Ala74Thr) rs2133995808
NM_001292063.2(OTOG):c.2294-11C>A rs770347038
NM_001292063.2(OTOG):c.238G>A (p.Val80Met)
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter) rs876657656
NM_001292063.2(OTOG):c.2487-5dup rs562652501
NM_001292063.2(OTOG):c.2561+1del rs1852533572
NM_001292063.2(OTOG):c.2684C>T (p.Thr895Met) rs777886999
NM_001292063.2(OTOG):c.2695C>G (p.Gln899Glu)
NM_001292063.2(OTOG):c.2723G>T (p.Arg908Leu) rs144060182
NM_001292063.2(OTOG):c.2734C>G (p.Leu912Val)
NM_001292063.2(OTOG):c.2759+187del rs60754867
NM_001292063.2(OTOG):c.2759+265del rs112738139
NM_001292063.2(OTOG):c.2833C>A (p.Pro945Thr)
NM_001292063.2(OTOG):c.2837G>A (p.Gly946Glu) rs1455245694
NM_001292063.2(OTOG):c.2839G>A (p.Asp947Asn)
NM_001292063.2(OTOG):c.2939G>C (p.Arg980Pro) rs876657938
NM_001292063.2(OTOG):c.2966C>T (p.Pro989Leu) rs192108740
NM_001292063.2(OTOG):c.3288+121G>A rs875695
NM_001292063.2(OTOG):c.3289-8C>G rs12792504
NM_001292063.2(OTOG):c.3289-8C>T rs12792504
NM_001292063.2(OTOG):c.3361G>A (p.Glu1121Lys) rs1275721235
NM_001292063.2(OTOG):c.3408+322G>C rs7938781
NM_001292063.2(OTOG):c.3419C>A (p.Thr1140Asn)
NM_001292063.2(OTOG):c.3613G>A (p.Val1205Ile)
NM_001292063.2(OTOG):c.3763G>C (p.Val1255Leu)
NM_001292063.2(OTOG):c.3777G>C (p.Ala1259=) rs762425435
NM_001292063.2(OTOG):c.3874C>T (p.His1292Tyr)
NM_001292063.2(OTOG):c.4049C>A (p.Ser1350Tyr) rs1346974637
NM_001292063.2(OTOG):c.4102C>A (p.Arg1368=)
NM_001292063.2(OTOG):c.4120G>A (p.Glu1374Lys)
NM_001292063.2(OTOG):c.4132C>T (p.Arg1378Trp) rs561534995
NM_001292063.2(OTOG):c.4145T>C (p.Phe1382Ser)
NM_001292063.2(OTOG):c.4157-125dup rs5789994
NM_001292063.2(OTOG):c.4181A>T (p.Tyr1394Phe)
NM_001292063.2(OTOG):c.4191C>G (p.Cys1397Trp)
NM_001292063.2(OTOG):c.4223G>T (p.Cys1408Phe)
NM_001292063.2(OTOG):c.4279G>T (p.Glu1427Ter) rs769161471
NM_001292063.2(OTOG):c.432del (p.Gln145fs) rs1393191930
NM_001292063.2(OTOG):c.4355-155G>A rs61880560
NM_001292063.2(OTOG):c.4571G>A (p.Gly1524Asp)
NM_001292063.2(OTOG):c.4646del (p.Pro1549fs) rs1269466280
NM_001292063.2(OTOG):c.4708C>T (p.Leu1570Phe)
NM_001292063.2(OTOG):c.4821G>A (p.Ser1607=) rs369768224
NM_001292063.2(OTOG):c.4826del (p.Pro1609fs) rs1565116349
NM_001292063.2(OTOG):c.4841C>T (p.Pro1614Leu) rs897939885
NM_001292063.2(OTOG):c.4864G>A (p.Val1622Ile) rs1049016020
NM_001292063.2(OTOG):c.4939C>A (p.Pro1647Thr)
NM_001292063.2(OTOG):c.4942G>A (p.Val1648Met)
NM_001292063.2(OTOG):c.4985del (p.Gly1662fs) rs1565116526
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.5036C>T (p.Thr1679Ile) rs950248015
NM_001292063.2(OTOG):c.5181A>T (p.Glu1727Asp)
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
NM_001292063.2(OTOG):c.521_523del (p.Gly174_Gln175delinsGlu)
NM_001292063.2(OTOG):c.5220A>C (p.Pro1740=) rs959286824
NM_001292063.2(OTOG):c.541-133C>G rs73418056
NM_001292063.2(OTOG):c.5459C>G (p.Ala1820Gly) rs1003490
NM_001292063.2(OTOG):c.5459C>T (p.Ala1820Val) rs1003490
NM_001292063.2(OTOG):c.5921C>T (p.Ala1974Val) rs1304160501
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001292063.2(OTOG):c.6005C>T (p.Pro2002Leu)
NM_001292063.2(OTOG):c.6035G>A (p.Gly2012Glu) rs2134092984
NM_001292063.2(OTOG):c.6123+243_6123+252del rs201131960
NM_001292063.2(OTOG):c.6124-157C>G rs1003491
NM_001292063.2(OTOG):c.6152A>T (p.His2051Leu)
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) rs188527711
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu) rs188527711
NM_001292063.2(OTOG):c.6406G>A (p.Val2136Ile)
NM_001292063.2(OTOG):c.6439-223_6439-222insCTCCTTCCTTCC rs1423101748
NM_001292063.2(OTOG):c.6439-237TCCT[7] rs1424666315
NM_001292063.2(OTOG):c.6439-238_6439-215del rs539783738
NM_001292063.2(OTOG):c.6439-238_6439-237insCCTCCT rs1565119211
NM_001292063.2(OTOG):c.6439-240_6439-213del rs1243145253
NM_001292063.2(OTOG):c.6439-284CCTT[10] rs10580062
NM_001292063.2(OTOG):c.6439-284CCTT[12] rs10580062
NM_001292063.2(OTOG):c.6439-284CCTT[13] rs10580062
NM_001292063.2(OTOG):c.6439-284CCTT[14] rs10580062
NM_001292063.2(OTOG):c.6439-284CCTT[15] rs10580062
NM_001292063.2(OTOG):c.6439-284CCTT[9] rs10580062
NM_001292063.2(OTOG):c.6508A>G (p.Ile2170Val)
NM_001292063.2(OTOG):c.6528+235_6528+237del rs35101030
NM_001292063.2(OTOG):c.6556C>T (p.Pro2186Ser) rs2133699235
NM_001292063.2(OTOG):c.659+23C>A rs73418059
NM_001292063.2(OTOG):c.661G>A (p.Val221Ile) rs1027403751
NM_001292063.2(OTOG):c.6712+57C>A rs75199341
NM_001292063.2(OTOG):c.6713-275AT[8] rs35706066
NM_001292063.2(OTOG):c.6713-304del rs772265474
NM_001292063.2(OTOG):c.6713-304dup rs772265474
NM_001292063.2(OTOG):c.6713-305_6713-304dup rs772265474
NM_001292063.2(OTOG):c.6713-312_6713-311insTGG rs1428928180
NM_001292063.2(OTOG):c.6713-312_6713-311insTGT rs72182478
NM_001292063.2(OTOG):c.6713-313T>G rs867536253
NM_001292063.2(OTOG):c.6713-323_6713-322insCTCTGT rs375572156
NM_001292063.2(OTOG):c.6713-323_6713-322insCTGT rs375572156
NM_001292063.2(OTOG):c.6713-345TC[12] rs143019994
NM_001292063.2(OTOG):c.6713-345TC[13] rs143019994
NM_001292063.2(OTOG):c.6713-345TC[14] rs143019994
NM_001292063.2(OTOG):c.6713-345TC[15] rs143019994
NM_001292063.2(OTOG):c.6911C>T (p.Thr2304Ile)
NM_001292063.2(OTOG):c.6934-20_6934-13delinsA
NM_001292063.2(OTOG):c.7015G>C (p.Val2339Leu)
NM_001292063.2(OTOG):c.7138T>C (p.Cys2380Arg) rs879491639
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.7433C>G (p.Ala2478Gly)
NM_001292063.2(OTOG):c.7489C>T (p.Gln2497Ter) rs2133709057
NM_001292063.2(OTOG):c.7641G>C (p.Gln2547His)
NM_001292063.2(OTOG):c.7666G>A (p.Asp2556Asn)
NM_001292063.2(OTOG):c.7693+59C>T rs112019231
NM_001292063.2(OTOG):c.7796T>C (p.Val2599Ala) rs1847899311
NM_001292063.2(OTOG):c.7847T>C (p.Leu2616Pro) rs1847900408
NM_001292063.2(OTOG):c.7871G>C (p.Arg2624Pro) rs890211812
NM_001292063.2(OTOG):c.7936-113C>T rs7933072
NM_001292063.2(OTOG):c.8018_8019delinsAT (p.Ala2673Asp) rs876657945
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His) rs766229978
NM_001292063.2(OTOG):c.8155ACC[3] (p.Thr2720dup) rs749534085
NM_001292063.2(OTOG):c.8189C>T (p.Ala2730Val) rs913708652
NM_001292063.2(OTOG):c.8191-12C>A rs11828989
NM_001292063.2(OTOG):c.8191-12C>T rs11828989
NM_001292063.2(OTOG):c.8191-235del rs143117202
NM_001292063.2(OTOG):c.8298C>A (p.Pro2766=) rs569159135
NM_001292063.2(OTOG):c.8461+176T>G rs138051536
NM_001292063.2(OTOG):c.8500C>T (p.Arg2834Cys)
NM_001292063.2(OTOG):c.8513G>A (p.Arg2838His) rs548280117
NM_001292063.2(OTOG):c.873G>A (p.Leu291=)
NM_001292063.2(OTOG):c.938C>T (p.Pro313Leu) rs767555421
NM_001292063.2(OTOG):c.94+17C>T rs1851833422
NM_001292063.2(OTOG):c.94+36C>G rs1216368455
NM_001292063.2(OTOG):c.94+62G>A

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