ClinVar Miner

List of variants in gene OTOF reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1406
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696 0.23539
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04640
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.509+10A>G rs76712142 0.03772
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter) rs75624587 0.03607
NM_194248.3(OTOF):c.2613C>T (p.Leu871=) rs2272068 0.03343
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.03023
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
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.4341G>A (p.Glu1447=) rs80214437 0.02415
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_194248.3(OTOF):c.129C>T (p.Asp43=) rs116525289 0.01663
NM_194248.3(OTOF):c.4799+16G>A rs60083916 0.01572
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573 0.01570
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.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574 0.01529
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.4629-9C>T rs72853726 0.01237
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln) rs111033329 0.00684
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877 0.00596
NM_194248.3(OTOF):c.3471G>T (p.Arg1157=) rs61742191 0.00446
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000 0.00446
NM_194323.3(OTOF):c.3621G>A (p.Leu1207=) rs73920281 0.00438
NM_194248.3(OTOF):c.2215-19C>G rs111033427 0.00434
NM_194248.3(OTOF):c.3076A>T (p.Arg1026Trp) rs145239283 0.00434
NM_194248.3(OTOF):c.228-16C>T rs147889840 0.00377
NM_194248.3(OTOF):c.42G>A (p.Arg14=) rs6734111 0.00334
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.1580-7G>T rs116430138 0.00309
NM_194248.3(OTOF):c.3734-10A>C rs73920284 0.00297
NM_194248.3(OTOF):c.366C>T (p.Asp122=) rs61747283 0.00269
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.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.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.4091G>T (p.Gly1364Val) rs138037294 0.00155
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
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.4628+18C>T rs56018216 0.00104
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr) rs62641623 0.00103
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677 0.00093
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.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.5829C>T (p.Ser1943=) rs151005752 0.00046
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_194248.3(OTOF):c.894C>T (p.Asn298=) rs112794890 0.00044
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.80-5C>T rs531034566 0.00040
NM_194248.3(OTOF):c.1708C>T (p.Leu570=) rs138474867 0.00039
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=) rs150691499 0.00039
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.2650G>A (p.Ala884Thr) rs144594692 0.00035
NM_194248.3(OTOF):c.898-6C>G rs199687628 0.00035
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00034
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302 0.00032
NM_194248.3(OTOF):c.2859C>T (p.Val953=) rs77414333 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_194248.3(OTOF):c.1135G>A (p.Val379Met) rs141111646 0.00030
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.1960C>T (p.Arg654Trp) rs144259658 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.327+5G>T rs370643920 0.00024
NM_194248.3(OTOF):c.783C>T (p.Ile261=) rs556182666 0.00024
NM_194248.3(OTOF):c.926C>T (p.Pro309Leu) rs574070900 0.00024
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_194248.3(OTOF):c.327+10C>A rs377042002 0.00021
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00020
NM_194248.3(OTOF):c.4799+9G>A rs201679575 0.00020
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.5196C>T (p.Tyr1732=) rs138681366 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.4946T>C (p.Ile1649Thr) rs146618661 0.00018
NM_194248.3(OTOF):c.1035C>T (p.Tyr345=) rs138885901 0.00016
NM_194248.3(OTOF):c.1393-12C>T rs201631405 0.00016
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys) rs150070091 0.00016
NM_194248.3(OTOF):c.2949C>T (p.Pro983=) rs200246317 0.00016
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575 0.00016
NM_194248.3(OTOF):c.5505G>A (p.Ala1835=) rs368190044 0.00016
NM_194248.3(OTOF):c.3894+16A>G rs200561465 0.00015
NM_194248.3(OTOF):c.4363-6G>A rs199567872 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_194248.3(OTOF):c.595G>T (p.Val199Leu) rs148105063 0.00015
NM_194248.3(OTOF):c.2787G>T (p.Leu929=) rs140874810 0.00014
NM_194248.3(OTOF):c.79+12G>A rs201241987 0.00014
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.2180A>G (p.Asn727Ser) rs200654171 0.00012
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_194248.3(OTOF):c.5711C>T (p.Thr1904Met) rs551267412 0.00012
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.1977G>A (p.Pro659=) rs145589784 0.00011
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327 0.00011
NM_194248.3(OTOF):c.328-11C>T rs369879663 0.00011
NM_194248.3(OTOF):c.377G>A (p.Gly126Asp) rs187033414 0.00011
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn) rs139201321 0.00011
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.4642G>A (p.Glu1548Lys) rs146982209 0.00010
NM_194248.3(OTOF):c.5813+15G>A rs371649088 0.00010
NM_194248.3(OTOF):c.735G>A (p.Glu245=) rs200500659 0.00010
NM_194248.3(OTOF):c.960G>A (p.Ser320=) rs141463872 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.4559G>A (p.Arg1520Gln) rs80356601 0.00009
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln) rs141800430 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.788C>T (p.Ala263Val) rs1013661076 0.00009
NM_194248.3(OTOF):c.1134C>T (p.Ala378=) rs542735691 0.00008
NM_194248.3(OTOF):c.4087G>A (p.Glu1363Lys) rs769620123 0.00008
NM_194248.3(OTOF):c.5419G>A (p.Val1807Ile) rs141443396 0.00008
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_194248.3(OTOF):c.710+18C>T rs368274322 0.00008
NM_194248.3(OTOF):c.843C>T (p.Asp281=) rs368728682 0.00008
NM_194248.3(OTOF):c.1569C>T (p.Asp523=) rs111440869 0.00007
NM_194248.3(OTOF):c.2516C>T (p.Ala839Val) rs201246660 0.00007
NM_194248.3(OTOF):c.5403G>A (p.Ala1801=) rs777088497 0.00007
NM_194248.3(OTOF):c.169G>A (p.Asp57Asn) rs754784459 0.00006
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp) rs2272070 0.00006
NM_194248.3(OTOF):c.2702C>T (p.Ser901Leu) rs200599474 0.00006
NM_194248.3(OTOF):c.3127-5G>A rs375186827 0.00006
NM_194248.3(OTOF):c.3480C>T (p.Ile1160=) rs375349663 0.00006
NM_194248.3(OTOF):c.3888G>A (p.Val1296=) rs753038809 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.959C>T (p.Ser320Leu) rs371666216 0.00006
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393 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.3861C>T (p.Asp1287=) rs147552283 0.00005
NM_194248.3(OTOF):c.3865-12G>A rs374902867 0.00005
NM_194248.3(OTOF):c.4249T>G (p.Ser1417Ala) rs369235766 0.00005
NM_194248.3(OTOF):c.4484G>A (p.Arg1495Gln) rs201067193 0.00005
NM_194248.3(OTOF):c.5477C>T (p.Ala1826Val) rs377197565 0.00005
NM_194248.3(OTOF):c.5610C>T (p.Thr1870=) rs141119917 0.00005
NM_194248.3(OTOF):c.1149G>C (p.Gly383=) rs142219516 0.00004
NM_194248.3(OTOF):c.1221C>T (p.Pro407=) rs727504716 0.00004
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 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.1800G>A (p.Ser600=) rs397517936 0.00004
NM_194248.3(OTOF):c.2148C>T (p.Ser716=) rs369870336 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.2520C>T (p.Asp840=) rs147061068 0.00004
NM_194248.3(OTOF):c.2877G>A (p.Ala959=) rs111033424 0.00004
NM_194248.3(OTOF):c.302T>C (p.Ile101Thr) rs754508360 0.00004
NM_194248.3(OTOF):c.327+16G>A rs201851221 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.4092C>G (p.Gly1364=) rs779854387 0.00004
NM_194248.3(OTOF):c.4185C>T (p.Ser1395=) rs148819838 0.00004
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met) rs749384668 0.00004
NM_194248.3(OTOF):c.4500+11C>T rs727503353 0.00004
NM_194248.3(OTOF):c.4790C>T (p.Thr1597Ile) rs769398304 0.00004
NM_194248.3(OTOF):c.4924G>A (p.Val1642Ile) rs146552124 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.5816G>A (p.Arg1939Gln) rs80356605 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.1045+12C>T rs761253981 0.00003
NM_194248.3(OTOF):c.1570G>A (p.Gly524Arg) rs146739635 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.2147G>A (p.Ser716Asn) rs147657016 0.00003
NM_194248.3(OTOF):c.2406+8C>T rs745420966 0.00003
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln) rs373681505 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.40C>T (p.Arg14Trp) rs774530840 0.00003
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys) rs745399096 0.00003
NM_194248.3(OTOF):c.4343G>A (p.Arg1448His) rs373858563 0.00003
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr) rs772763082 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.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_194248.3(OTOF):c.5712+5G>A rs750175033 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.76C>T (p.Arg26Ter) rs145208539 0.00003
NM_194248.3(OTOF):c.80-15C>T rs1487527833 0.00003
NM_194248.3(OTOF):c.828C>T (p.Cys276=) rs111033447 0.00003
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln) rs201326023 0.00003
NM_194248.3(OTOF):c.1335C>T (p.Ile445=) rs749521853 0.00002
NM_194248.3(OTOF):c.1579+9C>T rs770761461 0.00002
NM_194248.3(OTOF):c.2010C>T (p.Asn670=) rs374029967 0.00002
NM_194248.3(OTOF):c.2453G>A (p.Arg818Gln) rs748844952 0.00002
NM_194248.3(OTOF):c.2649C>T (p.Cys883=) rs397515593 0.00002
NM_194248.3(OTOF):c.2688G>A (p.Lys896=) rs886038757 0.00002
NM_194248.3(OTOF):c.2764C>T (p.Arg922Cys) rs754280163 0.00002
NM_194248.3(OTOF):c.3101T>C (p.Ile1034Thr) rs779785339 0.00002
NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His) rs150782952 0.00002
NM_194248.3(OTOF):c.322A>G (p.Ile108Val) rs727505189 0.00002
NM_194248.3(OTOF):c.3246C>T (p.Asn1082=) rs780758132 0.00002
NM_194248.3(OTOF):c.3321C>T (p.Pro1107=) rs373313654 0.00002
NM_194248.3(OTOF):c.3570+13C>T rs952601472 0.00002
NM_194248.3(OTOF):c.3938C>T (p.Ala1313Val) rs143650036 0.00002
NM_194248.3(OTOF):c.4342C>T (p.Arg1448Cys) rs727503355 0.00002
NM_194248.3(OTOF):c.4377G>T (p.Val1459=) rs374209343 0.00002
NM_194248.3(OTOF):c.4530C>T (p.Asn1510=) rs772232170 0.00002
NM_194248.3(OTOF):c.4581C>T (p.Arg1527=) rs560125081 0.00002
NM_194248.3(OTOF):c.4674G>A (p.Thr1558=) rs751556362 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.4782C>T (p.Ile1594=) rs765847178 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.55C>T (p.Arg19Trp) rs727504985 0.00002
NM_194248.3(OTOF):c.5712+20C>T rs937795943 0.00002
NM_194248.3(OTOF):c.5713-2A>G rs111033455 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_194248.3(OTOF):c.5903A>G (p.Lys1968Arg) rs754090877 0.00002
NM_194248.3(OTOF):c.654C>T (p.Pro218=) rs761399081 0.00002
NM_194248.3(OTOF):c.897+18G>T rs748338388 0.00002
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter) rs397515582 0.00001
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 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.1891A>T (p.Ile631Phe) rs765083847 0.00001
NM_194248.3(OTOF):c.2028C>T (p.Ala676=) rs752294415 0.00001
NM_194248.3(OTOF):c.2106T>A (p.His702Gln) rs764458682 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.222C>G (p.Ser74Arg) rs764474318 0.00001
NM_194248.3(OTOF):c.227+12A>G rs397517938 0.00001
NM_194248.3(OTOF):c.2406+9G>A rs397517939 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.2583C>T (p.Ala861=) rs767261797 0.00001
NM_194248.3(OTOF):c.2676+10G>C rs727503356 0.00001
NM_194248.3(OTOF):c.2689C>T (p.Arg897Trp) rs768666917 0.00001
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684 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.3156C>T (p.Phe1052=) rs397517942 0.00001
NM_194248.3(OTOF):c.3220G>A (p.Glu1074Lys) rs768889857 0.00001
NM_194248.3(OTOF):c.327+2T>G rs772344220 0.00001
NM_194248.3(OTOF):c.3362C>T (p.Pro1121Leu) rs779205233 0.00001
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00001
NM_194248.3(OTOF):c.3408+5G>A rs760279912 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.3599C>T (p.Pro1200Leu) rs762316974 0.00001
NM_194248.3(OTOF):c.3682C>T (p.Arg1228Cys) rs774452184 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.4023+7C>T rs370239223 0.00001
NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys) rs777285104 0.00001
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn) rs759839598 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.4549A>C (p.Ile1517Leu) rs142333327 0.00001
NM_194248.3(OTOF):c.4734C>T (p.Ile1578=) rs748951588 0.00001
NM_194248.3(OTOF):c.4885C>A (p.His1629Asn) rs774994239 0.00001
NM_194248.3(OTOF):c.4961-14G>A rs763615710 0.00001
NM_194248.3(OTOF):c.5193-9T>C rs886055875 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.5467A>G (p.Lys1823Glu) rs369848891 0.00001
NM_194248.3(OTOF):c.5518G>A (p.Ala1840Thr) rs771088478 0.00001
NM_194248.3(OTOF):c.5553G>C (p.Leu1851=) rs747844017 0.00001
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln) rs397515608 0.00001
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892 0.00001
NM_194248.3(OTOF):c.5694C>T (p.Asn1898=) rs1318486079 0.00001
NM_194248.3(OTOF):c.5712+6C>G rs200435099 0.00001
NM_194248.3(OTOF):c.591G>A (p.Pro197=) rs779916426 0.00001
NM_194248.3(OTOF):c.600G>A (p.Leu200=) rs756952748 0.00001
NM_194248.3(OTOF):c.750G>A (p.Arg250=) rs1238190736 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
NC_000002.11:g.(?_26706310)_(26707521_?)del
NM_194248.3(OTOF):c.*18-18CT[2]
NM_194248.3(OTOF):c.1005C>T (p.Gly335=) rs1156648103
NM_194248.3(OTOF):c.1016T>C (p.Met339Thr)
NM_194248.3(OTOF):c.1029C>T (p.Thr343=)
NM_194248.3(OTOF):c.102C>T (p.Val34=)
NM_194248.3(OTOF):c.1037C>A (p.Ser346Ter)
NM_194248.3(OTOF):c.1038G>A (p.Ser346=)
NM_194248.3(OTOF):c.1038G>C (p.Ser346=)
NM_194248.3(OTOF):c.1039C>T (p.Gln347Ter)
NM_194248.3(OTOF):c.103C>T (p.Leu35=)
NM_194248.3(OTOF):c.1045+11G>A
NM_194248.3(OTOF):c.1045+12C>A
NM_194248.3(OTOF):c.1045+13G>A
NM_194248.3(OTOF):c.1045+13G>T
NM_194248.3(OTOF):c.1045+15A>G
NM_194248.3(OTOF):c.1045+19C>A
NM_194248.3(OTOF):c.1045+19C>T
NM_194248.3(OTOF):c.1045+1G>C
NM_194248.3(OTOF):c.1045+1G>T
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.1046-10A>G
NM_194248.3(OTOF):c.1046-16C>G
NM_194248.3(OTOF):c.1046-16C>T
NM_194248.3(OTOF):c.1046-7A>G
NM_194248.3(OTOF):c.1051C>T (p.Gln351Ter) rs1558492758
NM_194248.3(OTOF):c.105G>A (p.Leu35=)
NM_194248.3(OTOF):c.1067G>A (p.Trp356Ter)
NM_194248.3(OTOF):c.1068G>A (p.Trp356Ter)
NM_194248.3(OTOF):c.1086C>T (p.Pro362=)
NM_194248.3(OTOF):c.1087G>A (p.Asp363Asn)
NM_194248.3(OTOF):c.1105C>A (p.Leu369Met)
NM_194248.3(OTOF):c.1128C>T (p.Asp376=)
NM_194248.3(OTOF):c.1143C>T (p.Gly381=)
NM_194248.3(OTOF):c.1150G>A (p.Asp384Asn)
NM_194248.3(OTOF):c.1155C>T (p.Asn385=)
NM_194248.3(OTOF):c.1163C>T (p.Thr388Met)
NM_194248.3(OTOF):c.1164G>A (p.Thr388=)
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.1188C>T (p.Asp396=)
NM_194248.3(OTOF):c.1198A>G (p.Ile400Val)
NM_194248.3(OTOF):c.1205+7C>T
NM_194248.3(OTOF):c.1206-10G>T
NM_194248.3(OTOF):c.1206-1G>A
NM_194248.3(OTOF):c.1206-20C>T
NM_194248.3(OTOF):c.1209C>T (p.Asn403=)
NM_194248.3(OTOF):c.120T>C (p.Asp40=)
NM_194248.3(OTOF):c.1227G>A (p.Gly409=)
NM_194248.3(OTOF):c.1236C>T (p.Pro412=)
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.123G>A (p.Val41=)
NM_194248.3(OTOF):c.1242C>G (p.Arg414=)
NM_194248.3(OTOF):c.1245G>A (p.Gln415=)
NM_194248.3(OTOF):c.1253G>A (p.Arg418Gln)
NM_194248.3(OTOF):c.126T>A (p.Ala42=)
NM_194248.3(OTOF):c.1272C>G (p.Tyr424Ter)
NM_194248.3(OTOF):c.1284G>C (p.Gly428=)
NM_194248.3(OTOF):c.1285C>T (p.Leu429=)
NM_194248.3(OTOF):c.1305C>T (p.Ser435=)
NM_194248.3(OTOF):c.1308C>A (p.Leu436=)
NM_194248.3(OTOF):c.1323G>A (p.Lys441=)
NM_194248.3(OTOF):c.1332C>T (p.Phe444=)
NM_194248.3(OTOF):c.1338T>C (p.Gly446=)
NM_194248.3(OTOF):c.1353C>T (p.Leu451=)
NM_194248.3(OTOF):c.1365C>A (p.Tyr455Ter)
NM_194248.3(OTOF):c.1365C>T (p.Tyr455=) rs572162678
NM_194248.3(OTOF):c.1371A>G (p.Gln457=)
NM_194248.3(OTOF):c.1375T>C (p.Phe459Leu)
NM_194248.3(OTOF):c.138+16C>T
NM_194248.3(OTOF):c.138+20C>T
NM_194248.3(OTOF):c.138+7G>A
NM_194248.3(OTOF):c.138+8G>A
NM_194248.3(OTOF):c.1388A>G (p.Gln463Arg)
NM_194248.3(OTOF):c.139-10C>T
NM_194248.3(OTOF):c.139-2A>G
NM_194248.3(OTOF):c.1392+11A>C
NM_194248.3(OTOF):c.1392+9G>C
NM_194248.3(OTOF):c.1393-11C>T
NM_194248.3(OTOF):c.1393-13C>T
NM_194248.3(OTOF):c.1393-15T>G
NM_194248.3(OTOF):c.1393-16C>T
NM_194248.3(OTOF):c.1393-8T>C
NM_194248.3(OTOF):c.1406_1410del (p.Val469fs)
NM_194248.3(OTOF):c.1410G>A (p.Gln470=)
NM_194248.3(OTOF):c.1413G>A (p.Lys471=) rs769723512
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter) rs1403112959
NM_194248.3(OTOF):c.1425G>A (p.Glu475=)
NM_194248.3(OTOF):c.1428C>G (p.Pro476=)
NM_194248.3(OTOF):c.1433G>A (p.Trp478Ter)
NM_194248.3(OTOF):c.1437T>C (p.Asn479=)
NM_194248.3(OTOF):c.1446C>T (p.Val482=) rs749138873
NM_194248.3(OTOF):c.1447G>A (p.Val483Ile)
NM_194248.3(OTOF):c.1452T>C (p.Phe484=)
NM_194248.3(OTOF):c.1458C>T (p.Asp486=)
NM_194248.3(OTOF):c.1464C>A (p.Phe488Leu)
NM_194248.3(OTOF):c.1468_1469del (p.Pro490fs)
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.1469del (p.Pro490fs) rs779119416
NM_194248.3(OTOF):c.1498C>T (p.Arg500Ter)
NM_194248.3(OTOF):c.1515C>T (p.Val505=)
NM_194248.3(OTOF):c.1518C>T (p.Asn506=)
NM_194248.3(OTOF):c.1521C>T (p.Asp507=)
NM_194248.3(OTOF):c.1522G>A (p.Val508Met)
NM_194248.3(OTOF):c.1524G>A (p.Val508=)
NM_194248.3(OTOF):c.1530C>A (p.Ile510=)
NM_194248.3(OTOF):c.1536C>T (p.Thr512=)
NM_194248.3(OTOF):c.153_159dup (p.Ser54fs) rs759366568
NM_194248.3(OTOF):c.1548C>T (p.Asp516=)
NM_194248.3(OTOF):c.1551G>C (p.Leu517=)
NM_194248.3(OTOF):c.1552C>T (p.Arg518Cys)
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=)
NM_194248.3(OTOF):c.156G>A (p.Val52=)
NM_194248.3(OTOF):c.1579+10G>A
NM_194248.3(OTOF):c.1579+10G>C
NM_194248.3(OTOF):c.1579+12G>A
NM_194248.3(OTOF):c.1579+13A>G
NM_194248.3(OTOF):c.1579+14G>A
NM_194248.3(OTOF):c.1579+14G>C
NM_194248.3(OTOF):c.1579+16C>A
NM_194248.3(OTOF):c.1579+17C>T
NM_194248.3(OTOF):c.1579+18C>T
NM_194248.3(OTOF):c.1579+19G>C
NM_194248.3(OTOF):c.1580-10A>C rs369178398
NM_194248.3(OTOF):c.1580-10A>G
NM_194248.3(OTOF):c.1580-18T>C
NM_194248.3(OTOF):c.1580-5C>T
NM_194248.3(OTOF):c.1580-7_1580-6delinsTT rs2148057126
NM_194248.3(OTOF):c.1581C>A (p.Gly527=)
NM_194248.3(OTOF):c.1587G>A (p.Leu529=)
NM_194248.3(OTOF):c.1587G>C (p.Leu529=)
NM_194248.3(OTOF):c.1599C>T (p.Gly533=)
NM_194248.3(OTOF):c.1601del (p.Pro534fs) rs397515583
NM_194248.3(OTOF):c.1632T>A (p.Arg544=)
NM_194248.3(OTOF):c.1632_1641dup (p.Leu548Ter)
NM_194248.3(OTOF):c.1641G>C (p.Thr547=)
NM_194248.3(OTOF):c.1641G>T (p.Thr547=)
NM_194248.3(OTOF):c.1653G>A (p.Glu551=)
NM_194248.3(OTOF):c.1665G>T (p.Leu555=)
NM_194248.3(OTOF):c.1668C>T (p.Asn556=)
NM_194248.3(OTOF):c.1689G>A (p.Val563=)
NM_194248.3(OTOF):c.168C>T (p.Ile56=)
NM_194248.3(OTOF):c.1694T>C (p.Phe565Ser)
NM_194248.3(OTOF):c.1698G>A (p.Arg566=)
NM_194248.3(OTOF):c.1714G>T (p.Gly572Cys) rs2148056953
NM_194248.3(OTOF):c.1716C>T (p.Gly572=)
NM_194248.3(OTOF):c.1724T>C (p.Val575Ala)
NM_194248.3(OTOF):c.1725G>A (p.Val575=)
NM_194248.3(OTOF):c.1731C>T (p.Ile577=)
NM_194248.3(OTOF):c.173G>A (p.Arg58Lys)
NM_194248.3(OTOF):c.1740C>G (p.Thr580=)
NM_194248.3(OTOF):c.1746C>T (p.Asn582=)
NM_194248.3(OTOF):c.1758C>T (p.Thr586=)
NM_194248.3(OTOF):c.1782G>A (p.Glu594=)
NM_194248.3(OTOF):c.1788C>T (p.Ala596=)
NM_194248.3(OTOF):c.1791G>T (p.Thr597=)
NM_194248.3(OTOF):c.1803+10C>T
NM_194248.3(OTOF):c.1803+1G>A rs2148056848
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_194248.3(OTOF):c.1803+8C>T
NM_194248.3(OTOF):c.1804-12G>A
NM_194248.3(OTOF):c.1804-20T>A
NM_194248.3(OTOF):c.1804-4A>G
NM_194248.3(OTOF):c.1804-7C>T
NM_194248.3(OTOF):c.1804-8C>T
NM_194248.3(OTOF):c.1812A>T (p.Ala604=)
NM_194248.3(OTOF):c.1836C>T (p.Leu612=)
NM_194248.3(OTOF):c.1845C>T (p.Ala615=)
NM_194248.3(OTOF):c.185T>C (p.Leu62Pro)
NM_194248.3(OTOF):c.1878C>T (p.Asn626=)
NM_194248.3(OTOF):c.1884C>T (p.Asp628=)
NM_194248.3(OTOF):c.1893C>A (p.Ile631=)
NM_194248.3(OTOF):c.1905C>T (p.Val635=)
NM_194248.3(OTOF):c.1912+17C>T
NM_194248.3(OTOF):c.1912+18G>A
NM_194248.3(OTOF):c.1912+1G>C
NM_194248.3(OTOF):c.1913-15C>T
NM_194248.3(OTOF):c.1920T>C (p.Tyr640=)
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.1935T>C (p.Asp645=)
NM_194248.3(OTOF):c.1938C>A (p.Gly646=)
NM_194248.3(OTOF):c.1941G>C (p.Leu647=)
NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)
NM_194248.3(OTOF):c.1955G>A (p.Arg652Gln)
NM_194248.3(OTOF):c.1956G>A (p.Arg652=)
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
NM_194248.3(OTOF):c.1966del (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.1966dup (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.1967G>A (p.Arg656Gln)
NM_194248.3(OTOF):c.1976C>T (p.Pro659Leu)
NM_194248.3(OTOF):c.1980G>A (p.Gly660=)
NM_194248.3(OTOF):c.1986G>A (p.Glu662=)
NM_194248.3(OTOF):c.1998C>T (p.Asp666=)
NM_194248.3(OTOF):c.2034T>C (p.Asp678=)
NM_194248.3(OTOF):c.2037C>T (p.Ala679=) rs397517937
NM_194248.3(OTOF):c.2039G>C (p.Gly680Ala)
NM_194248.3(OTOF):c.2040G>C (p.Gly680=)
NM_194248.3(OTOF):c.2058C>T (p.Ser686=)
NM_194248.3(OTOF):c.2061C>T (p.Ser687=)
NM_194248.3(OTOF):c.2076G>A (p.Arg692=)
NM_194248.3(OTOF):c.2082G>T (p.Gln694His)
NM_194248.3(OTOF):c.2088C>T (p.Thr696=)
NM_194248.3(OTOF):c.2089G>A (p.Asp697Asn)
NM_194248.3(OTOF):c.2093+10G>C
NM_194248.3(OTOF):c.2093+12C>T
NM_194248.3(OTOF):c.2093+18T>A
NM_194248.3(OTOF):c.2093+19C>T
NM_194248.3(OTOF):c.2094-12T>C
NM_194248.3(OTOF):c.2094-13C>G
NM_194248.3(OTOF):c.2094-17G>A
NM_194248.3(OTOF):c.2094-17G>T
NM_194248.3(OTOF):c.2094-18C>T
NM_194248.3(OTOF):c.2094-20C>T
NM_194248.3(OTOF):c.2094-8C>T
NM_194248.3(OTOF):c.2100C>T (p.Tyr700=)
NM_194248.3(OTOF):c.2112C>G (p.Pro704=)
NM_194248.3(OTOF):c.2118G>C (p.Leu706=)
NM_194248.3(OTOF):c.211A>G (p.Lys71Glu)
NM_194248.3(OTOF):c.2122C>A (p.Arg708=)
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2157G>A (p.Pro719=)
NM_194248.3(OTOF):c.2157G>C (p.Pro719=)
NM_194248.3(OTOF):c.2169C>G (p.Arg723=)
NM_194248.3(OTOF):c.2171del (p.Arg724fs)
NM_194248.3(OTOF):c.2175C>T (p.Leu725=) rs1572433929
NM_194248.3(OTOF):c.2187C>T (p.Asn729=)
NM_194248.3(OTOF):c.2202T>C (p.Ile734=)
NM_194248.3(OTOF):c.2211G>A (p.Lys737=)
NM_194248.3(OTOF):c.2214+17G>A
NM_194248.3(OTOF):c.2214+19G>A
NM_194248.3(OTOF):c.2214+7G>A
NM_194248.3(OTOF):c.2215-1G>A rs1558486388
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.226A>T (p.Lys76Ter)
NM_194248.3(OTOF):c.227+14G>A
NM_194248.3(OTOF):c.227+16G>C
NM_194248.3(OTOF):c.227+17G>T
NM_194248.3(OTOF):c.227+1G>A
NM_194248.3(OTOF):c.227+2T>C
NM_194248.3(OTOF):c.227+7G>T
NM_194248.3(OTOF):c.228-10C>T
NM_194248.3(OTOF):c.228-14del
NM_194248.3(OTOF):c.228-17C>T
NM_194248.3(OTOF):c.2316-13G>A
NM_194248.3(OTOF):c.2316-14C>T
NM_194248.3(OTOF):c.2316-17G>T
NM_194248.3(OTOF):c.2316-18G>A
NM_194248.3(OTOF):c.2316-18G>T
NM_194248.3(OTOF):c.2316-19C>A
NM_194248.3(OTOF):c.2316-19C>T
NM_194248.3(OTOF):c.2316-1G>A
NM_194248.3(OTOF):c.2316-4C>T
NM_194248.3(OTOF):c.2316-6C>T
NM_194248.3(OTOF):c.2316-7C>T
NM_194248.3(OTOF):c.231C>T (p.Leu77=)
NM_194248.3(OTOF):c.2331C>T (p.Leu777=)
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.235G>A (p.Gly79Arg) rs727504911
NM_194248.3(OTOF):c.2361C>T (p.Arg787=)
NM_194248.3(OTOF):c.2364C>T (p.Thr788=)
NM_194248.3(OTOF):c.2370T>A (p.Leu790=)
NM_194248.3(OTOF):c.2376G>A (p.Arg792=)
NM_194248.3(OTOF):c.2383C>T (p.Leu795Phe) rs2148051830
NM_194248.3(OTOF):c.2392T>C (p.Cys798Arg)
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu) rs111033392
NM_194248.3(OTOF):c.2406+10C>T
NM_194248.3(OTOF):c.2406+13C>G
NM_194248.3(OTOF):c.2406+19G>A
NM_194248.3(OTOF):c.2406+2T>C
NM_194248.3(OTOF):c.2406+7A>G
NM_194248.3(OTOF):c.2407-10_2407-9delinsAA rs2148051425
NM_194248.3(OTOF):c.2407-14C>T
NM_194248.3(OTOF):c.2407-16_2407-5del
NM_194248.3(OTOF):c.2407-18_2407-17delinsGG
NM_194248.3(OTOF):c.2407-4G>A
NM_194248.3(OTOF):c.2407-4G>T
NM_194248.3(OTOF):c.2407-5C>T
NM_194248.3(OTOF):c.2407-7_2407-5del
NM_194248.3(OTOF):c.2407-9C>G
NM_194248.3(OTOF):c.2436G>A (p.Leu812=) rs2148051340
NM_194248.3(OTOF):c.2437C>T (p.Arg813Trp)
NM_194248.3(OTOF):c.243_244delinsTT (p.Arg82Cys)
NM_194248.3(OTOF):c.2457C>T (p.His819=)
NM_194248.3(OTOF):c.2460G>C (p.Thr820=)
NM_194248.3(OTOF):c.2469C>T (p.Asp823=)
NM_194248.3(OTOF):c.2470A>G (p.Lys824Glu) rs2148051221
NM_194248.3(OTOF):c.248T>C (p.Met83Thr)
NM_194248.3(OTOF):c.2505G>A (p.Leu835=)
NM_194248.3(OTOF):c.2508C>T (p.Arg836=)
NM_194248.3(OTOF):c.2511C>T (p.Phe837=) rs1572430074
NM_194248.3(OTOF):c.2517G>A (p.Ala839=)
NM_194248.3(OTOF):c.2521G>T (p.Glu841Ter)
NM_194248.3(OTOF):c.2523+14G>A
NM_194248.3(OTOF):c.2523+15G>A
NM_194248.3(OTOF):c.2523+15G>T
NM_194248.3(OTOF):c.2523+17C>T
NM_194248.3(OTOF):c.2523+18G>A
NM_194248.3(OTOF):c.2524-10C>G
NM_194248.3(OTOF):c.2524-11C>A
NM_194248.3(OTOF):c.2524-12C>G
NM_194248.3(OTOF):c.2524-13C>G
NM_194248.3(OTOF):c.2524-15C>A
NM_194248.3(OTOF):c.2524-15C>T
NM_194248.3(OTOF):c.2524-17C>T
NM_194248.3(OTOF):c.2524-5C>A
NM_194248.3(OTOF):c.2524-5C>G
NM_194248.3(OTOF):c.2525C>T (p.Pro842Leu) rs2148050759
NM_194248.3(OTOF):c.252G>A (p.Val84=)
NM_194248.3(OTOF):c.2541C>T (p.Pro847=)
NM_194248.3(OTOF):c.2553C>T (p.Ile851=)
NM_194248.3(OTOF):c.2554T>A (p.Trp852Arg) rs2148050707
NM_194248.3(OTOF):c.2556del (p.Ile851_Trp852insTer)
NM_194248.3(OTOF):c.2576G>A (p.Arg859His)
NM_194248.3(OTOF):c.2577T>C (p.Arg859=)
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.258G>A (p.Gln86=)
NM_194248.3(OTOF):c.2604G>A (p.Lys868=)
NM_194248.3(OTOF):c.2607C>T (p.Asp869=)
NM_194248.3(OTOF):c.2608C>T (p.Leu870=)
NM_194248.3(OTOF):c.2622C>T (p.Ile874=)
NM_194248.3(OTOF):c.2629G>A (p.Glu877Lys)
NM_194248.3(OTOF):c.2631G>A (p.Glu877=)
NM_194248.3(OTOF):c.2637T>C (p.Thr879=)
NM_194248.3(OTOF):c.2643G>A (p.Lys881=)
NM_194248.3(OTOF):c.264G>A (p.Val88=)
NM_194248.3(OTOF):c.2676+13G>A
NM_194248.3(OTOF):c.2676+18A>G
NM_194248.3(OTOF):c.2676+19T>G
NM_194248.3(OTOF):c.2676+20G>A
NM_194248.3(OTOF):c.2676+20G>C
NM_194248.3(OTOF):c.2677-1G>C
NM_194248.3(OTOF):c.2677-20G>A
NM_194248.3(OTOF):c.2677-6C>T
NM_194248.3(OTOF):c.2677-7C>A
NM_194248.3(OTOF):c.2677-9C>T
NM_194248.3(OTOF):c.2679G>T (p.Leu893=)
NM_194248.3(OTOF):c.2685G>A (p.Gly895=)
NM_194248.3(OTOF):c.2691G>A (p.Arg897=)
NM_194248.3(OTOF):c.2693G>A (p.Gly898Asp) rs772312557
NM_194248.3(OTOF):c.2711G>A (p.Trp904Ter)
NM_194248.3(OTOF):c.2716G>A (p.Val906Met)
NM_194248.3(OTOF):c.2718G>A (p.Val906=)
NM_194248.3(OTOF):c.2733G>A (p.Glu911=)
NM_194248.3(OTOF):c.2742G>A (p.Leu914=)
NM_194248.3(OTOF):c.2748G>A (p.Leu916=)
NM_194248.3(OTOF):c.2751C>A (p.Gly917=)
NM_194248.3(OTOF):c.2765G>A (p.Arg922His)
NM_194248.3(OTOF):c.2765G>T (p.Arg922Leu)
NM_194248.3(OTOF):c.2773T>C (p.Phe925Leu)
NM_194248.3(OTOF):c.2781C>T (p.Cys927=)
NM_194248.3(OTOF):c.2808C>T (p.Val936=)
NM_194248.3(OTOF):c.2838C>G (p.Ala946=)
NM_194248.3(OTOF):c.2838C>T (p.Ala946=)
NM_194248.3(OTOF):c.2839_2867-12del
NM_194248.3(OTOF):c.2843del (p.Pro948fs)
NM_194248.3(OTOF):c.2844A>G (p.Pro948=)
NM_194248.3(OTOF):c.2862C>T (p.Tyr954=)
NM_194248.3(OTOF):c.2867-16C>A
NM_194248.3(OTOF):c.2867-5_2881del rs1240121049
NM_194248.3(OTOF):c.2867-6C>G
NM_194248.3(OTOF):c.2891C>T (p.Ala964Val)
NM_194248.3(OTOF):c.2892G>A (p.Ala964=)
NM_194248.3(OTOF):c.2903A>G (p.Gln968Arg)
NM_194248.3(OTOF):c.2922C>A (p.Ala974=)
NM_194248.3(OTOF):c.2922C>G (p.Ala974=)
NM_194248.3(OTOF):c.2922C>T (p.Ala974=)
NM_194248.3(OTOF):c.2924C>T (p.Ala975Val) rs909276883
NM_194248.3(OTOF):c.2925C>T (p.Ala975=)
NM_194248.3(OTOF):c.2926G>A (p.Asp976Asn)
NM_194248.3(OTOF):c.2928C>T (p.Asp976=) rs534758736
NM_194248.3(OTOF):c.2941_2947del (p.Ser981fs)
NM_194248.3(OTOF):c.2955C>T (p.Ala985=)
NM_194248.3(OTOF):c.2956del (p.Arg986fs)
NM_194248.3(OTOF):c.2958C>A (p.Arg986=)
NM_194248.3(OTOF):c.2958C>T (p.Arg986=)
NM_194248.3(OTOF):c.2964C>T (p.Phe988=)
NM_194248.3(OTOF):c.296C>T (p.Thr99Met)
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.2991+14A>C
NM_194248.3(OTOF):c.2991+20G>T rs539358225
NM_194248.3(OTOF):c.2991+7G>A
NM_194248.3(OTOF):c.2992-10C>T
NM_194248.3(OTOF):c.2992-11C>A
NM_194248.3(OTOF):c.2992-14A>G rs370041999
NM_194248.3(OTOF):c.2992-15C>T
NM_194248.3(OTOF):c.2992-16C>T
NM_194248.3(OTOF):c.2992-19T>G
NM_194248.3(OTOF):c.2992-7G>T
NM_194248.3(OTOF):c.3000T>C (p.Asn1000=)
NM_194248.3(OTOF):c.3009G>A (p.Leu1003=)
NM_194248.3(OTOF):c.3033G>T (p.Leu1011=)
NM_194248.3(OTOF):c.3040G>A (p.Asp1014Asn)
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter) rs2148046428
NM_194248.3(OTOF):c.306T>C (p.Asp102=)
NM_194248.3(OTOF):c.3070G>T (p.Glu1024Ter)
NM_194248.3(OTOF):c.3075G>A (p.Leu1025=)
NM_194248.3(OTOF):c.3081C>T (p.Asp1027=)
NM_194248.3(OTOF):c.3084T>C (p.Asp1028=)
NM_194248.3(OTOF):c.3087G>A (p.Pro1029=)
NM_194248.3(OTOF):c.3087G>T (p.Pro1029=)
NM_194248.3(OTOF):c.3108C>A (p.Ile1036=)
NM_194248.3(OTOF):c.3126+14C>T
NM_194248.3(OTOF):c.3126+2T>C
NM_194248.3(OTOF):c.3126+8T>G
NM_194248.3(OTOF):c.3127-10G>C
NM_194248.3(OTOF):c.3127-6C>T
NM_194248.3(OTOF):c.3129C>A (p.Gly1043=)
NM_194248.3(OTOF):c.3132A>G (p.Lys1044=)
NM_194248.3(OTOF):c.3148C>T (p.Arg1050Trp)
NM_194248.3(OTOF):c.3149G>A (p.Arg1050Gln)
NM_194248.3(OTOF):c.3150G>T (p.Arg1050=)
NM_194248.3(OTOF):c.3159del (p.Lys1054fs)
NM_194248.3(OTOF):c.315T>C (p.Asn105=)
NM_194248.3(OTOF):c.3171G>A (p.Val1057=)
NM_194248.3(OTOF):c.3174G>A (p.Lys1058=)
NM_194248.3(OTOF):c.3178del (p.Ala1060fs) rs727504639
NM_194248.3(OTOF):c.3183C>T (p.Asp1061=)
NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter)
NM_194248.3(OTOF):c.3202C>T (p.Arg1068Cys)
NM_194248.3(OTOF):c.3207C>T (p.Phe1069=) rs267599306
NM_194248.3(OTOF):c.3219C>T (p.Leu1073=)
NM_194248.3(OTOF):c.3238C>T (p.Arg1080Cys)
NM_194248.3(OTOF):c.3239G>A (p.Arg1080His)
NM_194248.3(OTOF):c.3239del (p.Arg1080fs)
NM_194248.3(OTOF):c.3258_3268dup (p.Ala1090fs)
NM_194248.3(OTOF):c.3269C>T (p.Ala1090Val)
NM_194248.3(OTOF):c.327+11C>G
NM_194248.3(OTOF):c.327+12C>G
NM_194248.3(OTOF):c.327+15C>T
NM_194248.3(OTOF):c.3270G>A (p.Ala1090=)
NM_194248.3(OTOF):c.3279G>A (p.Glu1093=)
NM_194248.3(OTOF):c.328-14C>A
NM_194248.3(OTOF):c.328-16G>A
NM_194248.3(OTOF):c.328-17C>T
NM_194248.3(OTOF):c.328-18C>T
NM_194248.3(OTOF):c.328-1G>C
NM_194248.3(OTOF):c.328-1G>T
NM_194248.3(OTOF):c.328-7C>T
NM_194248.3(OTOF):c.3282G>A (p.Leu1094=)
NM_194248.3(OTOF):c.3285G>A (p.Leu1095=)
NM_194248.3(OTOF):c.3286C>T (p.Gln1096Ter)
NM_194248.3(OTOF):c.3288+16A>G
NM_194248.3(OTOF):c.3288+17G>A
NM_194248.3(OTOF):c.3288+17G>C
NM_194248.3(OTOF):c.3288+19G>C
NM_194248.3(OTOF):c.3288+20G>A
NM_194248.3(OTOF):c.3288+4G>A
NM_194248.3(OTOF):c.3289-14C>T
NM_194248.3(OTOF):c.3289-1G>C
NM_194248.3(OTOF):c.3289-6C>T
NM_194248.3(OTOF):c.3297A>G (p.Pro1099=)
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=)
NM_194248.3(OTOF):c.3321C>G (p.Pro1107=)
NM_194248.3(OTOF):c.3321del (p.Ile1108fs)
NM_194248.3(OTOF):c.3321dup (p.Ile1108fs)
NM_194248.3(OTOF):c.3333G>A (p.Pro1111=)
NM_194248.3(OTOF):c.3333G>T (p.Pro1111=)
NM_194248.3(OTOF):c.3336G>A (p.Val1112=)
NM_194248.3(OTOF):c.3339C>T (p.Asp1113=)
NM_194248.3(OTOF):c.333C>A (p.Ser111Arg) rs2148098670
NM_194248.3(OTOF):c.3342G>A (p.Val1114=)
NM_194248.3(OTOF):c.3345C>T (p.Asp1115=)
NM_194248.3(OTOF):c.3346C>T (p.Arg1116Ter)
NM_194248.3(OTOF):c.3348A>G (p.Arg1116=) rs572579351
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.3370A>G (p.Met1124Val)
NM_194248.3(OTOF):c.3381G>C (p.Arg1127=)
NM_194248.3(OTOF):c.3384C>G (p.Pro1128=)
NM_194248.3(OTOF):c.3390C>T (p.Leu1130=)
NM_194248.3(OTOF):c.3399C>A (p.Tyr1133Ter)
NM_194248.3(OTOF):c.33G>A (p.Ser11=)
NM_194248.3(OTOF):c.3402A>C (p.Arg1134=)
NM_194248.3(OTOF):c.3408+10C>T
NM_194248.3(OTOF):c.3408+14G>C
NM_194248.3(OTOF):c.3408+1G>A
NM_194248.3(OTOF):c.3408+8G>A
NM_194248.3(OTOF):c.3409-10C>A
NM_194248.3(OTOF):c.3409-14C>T
NM_194248.3(OTOF):c.3409-1G>C
NM_194248.3(OTOF):c.3409-2A>C rs201613240
NM_194248.3(OTOF):c.3409-9C>G
NM_194248.3(OTOF):c.340G>A (p.Val114Met)
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro) rs397515599
NM_194248.3(OTOF):c.3417C>T (p.Phe1139=)
NM_194248.3(OTOF):c.3424C>T (p.Leu1142=)
NM_194248.3(OTOF):c.342G>C (p.Val114=)
NM_194248.3(OTOF):c.3439C>T (p.Arg1147Trp)
NM_194248.3(OTOF):c.3441G>T (p.Arg1147=)
NM_194248.3(OTOF):c.3464G>A (p.Arg1155Gln)
NM_194248.3(OTOF):c.3469C>T (p.Arg1157Trp)
NM_194248.3(OTOF):c.3474G>A (p.Val1158=)
NM_194248.3(OTOF):c.3480_3486del (p.Ile1160fs)
NM_194248.3(OTOF):c.3481G>T (p.Glu1161Ter)
NM_194248.3(OTOF):c.3489A>G (p.Ala1163=)
NM_194248.3(OTOF):c.3495G>A (p.Lys1165=)
NM_194248.3(OTOF):c.3501G>A (p.Val1167=)
NM_194248.3(OTOF):c.3507G>A (p.Ser1169=) rs111033513
NM_194248.3(OTOF):c.3507G>T (p.Ser1169=)
NM_194248.3(OTOF):c.351G>A (p.Arg117=)
NM_194248.3(OTOF):c.3525T>C (p.Tyr1175=)
NM_194248.3(OTOF):c.3528G>A (p.Lys1176=)
NM_194248.3(OTOF):c.3549_3550insAA (p.Leu1184fs)
NM_194248.3(OTOF):c.354T>A (p.Tyr118Ter)
NM_194248.3(OTOF):c.3552C>T (p.Leu1184=)
NM_194248.3(OTOF):c.3568G>C (p.Val1190Leu)
NM_194248.3(OTOF):c.3570+10G>C
NM_194248.3(OTOF):c.3570+11G>A
NM_194248.3(OTOF):c.3570+12C>A
NM_194248.3(OTOF):c.3570+18C>T
NM_194248.3(OTOF):c.3570+19G>A
NM_194248.3(OTOF):c.3570+7G>A
NM_194248.3(OTOF):c.3571-14C>T
NM_194248.3(OTOF):c.3571-17dup
NM_194248.3(OTOF):c.3571-19C>A
NM_194248.3(OTOF):c.3571-4C>T
NM_194248.3(OTOF):c.3571-6C>T
NM_194248.3(OTOF):c.3571-7A>G
NM_194248.3(OTOF):c.3585C>T (p.Asn1195=)
NM_194248.3(OTOF):c.3589C>T (p.Leu1197=)
NM_194248.3(OTOF):c.3600G>A (p.Pro1200=)
NM_194248.3(OTOF):c.3604T>C (p.Leu1202=)
NM_194248.3(OTOF):c.3621G>A (p.Val1207=)
NM_194248.3(OTOF):c.3624C>T (p.Asp1208=)
NM_194248.3(OTOF):c.3627C>T (p.Cys1209=)
NM_194248.3(OTOF):c.3636C>T (p.Phe1212=)
NM_194248.3(OTOF):c.3641G>A (p.Arg1214His)
NM_194248.3(OTOF):c.3642C>A (p.Arg1214=)
NM_194248.3(OTOF):c.3645C>T (p.Tyr1215=)
NM_194248.3(OTOF):c.3666C>T (p.Ala1222=)
NM_194248.3(OTOF):c.3667G>A (p.Val1223Ile)
NM_194248.3(OTOF):c.3679C>T (p.Arg1227Ter)
NM_194248.3(OTOF):c.3683G>A (p.Arg1228His)
NM_194248.3(OTOF):c.3693C>T (p.Tyr1231=)
NM_194248.3(OTOF):c.3697C>T (p.Pro1233Ser)
NM_194248.3(OTOF):c.36G>A (p.Glu12=)
NM_194248.3(OTOF):c.3705C>G (p.Asp1235Glu)
NM_194248.3(OTOF):c.3711G>C (p.Ser1237=)
NM_194248.3(OTOF):c.3720C>T (p.Ser1240=)
NM_194248.3(OTOF):c.3727A>G (p.Thr1243Ala)
NM_194248.3(OTOF):c.3733+14C>A
NM_194248.3(OTOF):c.3733+16C>T
NM_194248.3(OTOF):c.3733+1G>A
NM_194248.3(OTOF):c.3733+6G>C
NM_194248.3(OTOF):c.3733+7C>T
NM_194248.3(OTOF):c.3733+8C>T
NM_194248.3(OTOF):c.3734-14A>C
NM_194248.3(OTOF):c.3734-18A>G
NM_194248.3(OTOF):c.3734-19dup
NM_194248.3(OTOF):c.3734-20C>G
NM_194248.3(OTOF):c.3734-2A>C
NM_194248.3(OTOF):c.3734-2A>G
NM_194248.3(OTOF):c.3744C>T (p.Leu1248=)
NM_194248.3(OTOF):c.3745C>T (p.Arg1249Trp)
NM_194248.3(OTOF):c.3748C>T (p.Arg1250Cys)
NM_194248.3(OTOF):c.3754C>T (p.Arg1252Cys)
NM_194248.3(OTOF):c.3771G>A (p.Gly1257=)
NM_194248.3(OTOF):c.3774C>T (p.Gly1258=)
NM_194248.3(OTOF):c.3774CTC[2] (p.Ser1261del) rs755171049
NM_194248.3(OTOF):c.3780C>G (p.Ser1260=)
NM_194248.3(OTOF):c.3789C>T (p.Ser1263=)
NM_194248.3(OTOF):c.3791C>T (p.Thr1264Ile)
NM_194248.3(OTOF):c.3810T>A (p.Thr1270=)
NM_194248.3(OTOF):c.3816G>A (p.Glu1272=)
NM_194248.3(OTOF):c.3819A>G (p.Pro1273=)
NM_194248.3(OTOF):c.3828C>T (p.Pro1276=)
NM_194248.3(OTOF):c.383G>A (p.Trp128Ter)
NM_194248.3(OTOF):c.3840G>A (p.Leu1280=)
NM_194248.3(OTOF):c.3848T>C (p.Met1283Thr)
NM_194248.3(OTOF):c.3862G>T (p.Ala1288Ser)
NM_194248.3(OTOF):c.3864+10G>T
NM_194248.3(OTOF):c.3864+10del
NM_194248.3(OTOF):c.3864+15G>A
NM_194248.3(OTOF):c.3864+18A>G
NM_194248.3(OTOF):c.3864+19G>A
NM_194248.3(OTOF):c.3864+20C>G
NM_194248.3(OTOF):c.3864+2T>C
NM_194248.3(OTOF):c.3864+8G>A
NM_194248.3(OTOF):c.3865-13G>C
NM_194248.3(OTOF):c.3865-19C>T
NM_194248.3(OTOF):c.3865-8C>T
NM_194248.3(OTOF):c.3870T>A (p.Ser1290=)
NM_194248.3(OTOF):c.387C>T (p.Asp129=)
NM_194248.3(OTOF):c.3894+12G>A
NM_194248.3(OTOF):c.3894+9G>A
NM_194248.3(OTOF):c.3895-17A>T
NM_194248.3(OTOF):c.3895-1G>A
NM_194248.3(OTOF):c.3903G>A (p.Glu1301=)
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.391G>A (p.Gly131Arg)
NM_194248.3(OTOF):c.3924G>A (p.Lys1308=)
NM_194248.3(OTOF):c.3925_4023+169delinsG
NM_194248.3(OTOF):c.3933C>T (p.Gly1311=)
NM_194248.3(OTOF):c.393G>C (p.Gly131=)
NM_194248.3(OTOF):c.394G>T (p.Asp132Tyr)
NM_194248.3(OTOF):c.3957G>A (p.Glu1319=)
NM_194248.3(OTOF):c.3966C>T (p.Asp1322=)
NM_194248.3(OTOF):c.3969G>A (p.Glu1323=)
NM_194248.3(OTOF):c.3973A>T (p.Met1325Leu)
NM_194248.3(OTOF):c.3981C>T (p.Asp1327=)
NM_194248.3(OTOF):c.3982dup (p.Trp1328fs)
NM_194248.3(OTOF):c.4006A>G (p.Ile1336Val)
NM_194248.3(OTOF):c.4023+10C>T
NM_194248.3(OTOF):c.4023+18G>A
NM_194248.3(OTOF):c.4023+8C>T
NM_194248.3(OTOF):c.4024-12A>G
NM_194248.3(OTOF):c.4024-13C>T
NM_194248.3(OTOF):c.4024-14T>A
NM_194248.3(OTOF):c.4024-20T>G
NM_194248.3(OTOF):c.402G>A (p.Leu134=)
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805
NM_194248.3(OTOF):c.4036C>T (p.Gln1346Ter)
NM_194248.3(OTOF):c.4038A>G (p.Gln1346=)
NM_194248.3(OTOF):c.4063G>A (p.Glu1355Lys)
NM_194248.3(OTOF):c.4083T>C (p.Asn1361=)
NM_194248.3(OTOF):c.4086C>T (p.Thr1362=)
NM_194248.3(OTOF):c.408T>C (p.Asp136=)
NM_194248.3(OTOF):c.4090+11G>A
NM_194248.3(OTOF):c.4090+18G>A
NM_194248.3(OTOF):c.4090+7C>G
NM_194248.3(OTOF):c.4091-13T>C
NM_194248.3(OTOF):c.4091-17T>C
NM_194248.3(OTOF):c.4091-2A>C
NM_194248.3(OTOF):c.409G>A (p.Glu137Lys)
NM_194248.3(OTOF):c.4101G>A (p.Gly1367=)
NM_194248.3(OTOF):c.411G>A (p.Glu137=)
NM_194248.3(OTOF):c.4138G>A (p.Glu1380Lys)
NM_194248.3(OTOF):c.4140G>A (p.Glu1380=)
NM_194248.3(OTOF):c.4141G>A (p.Glu1381Lys)
NM_194248.3(OTOF):c.4179G>A (p.Gln1393=)
NM_194248.3(OTOF):c.417T>C (p.Leu139=)
NM_194248.3(OTOF):c.4188G>A (p.Glu1396=)
NM_194248.3(OTOF):c.418C>T (p.Gln140Ter)
NM_194248.3(OTOF):c.4194C>T (p.Pro1398=)
NM_194248.3(OTOF):c.420A>G (p.Gln140=)
NM_194248.3(OTOF):c.4227+14A>T
NM_194248.3(OTOF):c.4227+16C>A
NM_194248.3(OTOF):c.4227+16C>T
NM_194248.3(OTOF):c.4228-15C>G
NM_194248.3(OTOF):c.4228-1G>A rs111033342
NM_194248.3(OTOF):c.4230A>G (p.Val1410=)
NM_194248.3(OTOF):c.423G>A (p.Glu141=)
NM_194248.3(OTOF):c.4245G>A (p.Leu1415=)
NM_194248.3(OTOF):c.4251C>T (p.Ser1417=)
NM_194248.3(OTOF):c.4252G>A (p.Glu1418Lys)
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter) rs80356598
NM_194248.3(OTOF):c.4281C>T (p.His1427=)
NM_194248.3(OTOF):c.4289A>G (p.Asn1430Ser)
NM_194248.3(OTOF):c.4289_4292dup (p.Arg1433fs)
NM_194248.3(OTOF):c.4290C>T (p.Asn1430=) rs566846495
NM_194248.3(OTOF):c.4291T>C (p.Leu1431=)
NM_194248.3(OTOF):c.4301dup (p.Lys1435fs)
NM_194248.3(OTOF):c.4308C>G (p.Thr1436=)
NM_194248.3(OTOF):c.4308C>T (p.Thr1436=)
NM_194248.3(OTOF):c.4320G>A (p.Glu1440=)
NM_194248.3(OTOF):c.4324G>A (p.Gly1442Ser) rs367581711
NM_194248.3(OTOF):c.4328C>T (p.Ser1443Phe)
NM_194248.3(OTOF):c.4332C>A (p.Thr1444=)
NM_194248.3(OTOF):c.4332C>G (p.Thr1444=)
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.4333G>A (p.Glu1445Lys)
NM_194248.3(OTOF):c.4338G>A (p.Glu1446=)
NM_194248.3(OTOF):c.4362+16C>T
NM_194248.3(OTOF):c.4362+17G>A
NM_194248.3(OTOF):c.4362+17G>C
NM_194248.3(OTOF):c.4362+7C>G
NM_194248.3(OTOF):c.4363-12del
NM_194248.3(OTOF):c.4363-17A>G
NM_194248.3(OTOF):c.4363-18del
NM_194248.3(OTOF):c.4363-19C>T
NM_194248.3(OTOF):c.4374C>T (p.Cys1458=)
NM_194248.3(OTOF):c.4377G>A (p.Val1459=)
NM_194248.3(OTOF):c.4385_4386del (p.Val1462fs)
NM_194248.3(OTOF):c.4401C>T (p.Asp1467=) rs138500783
NM_194248.3(OTOF):c.4402G>A (p.Val1468Met)
NM_194248.3(OTOF):c.4409G>A (p.Arg1470Gln)
NM_194248.3(OTOF):c.4416C>T (p.Ala1472=)
NM_194248.3(OTOF):c.4417G>A (p.Gly1473Ser)
NM_194248.3(OTOF):c.4419C>T (p.Gly1473=)
NM_194248.3(OTOF):c.4422C>T (p.Tyr1474=)
NM_194248.3(OTOF):c.4428C>T (p.Ser1476=)
NM_194248.3(OTOF):c.4434C>T (p.Tyr1478=)
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.4485A>G (p.Arg1495=)
NM_194248.3(OTOF):c.4495del (p.Val1499fs)
NM_194248.3(OTOF):c.4500+10C>A
NM_194248.3(OTOF):c.4500+10C>T
NM_194248.3(OTOF):c.4500+12G>A
NM_194248.3(OTOF):c.4500+14C>A
NM_194248.3(OTOF):c.4500+14C>G
NM_194248.3(OTOF):c.4500+14C>T
NM_194248.3(OTOF):c.4500+15G>A
NM_194248.3(OTOF):c.4500+16C>T
NM_194248.3(OTOF):c.4500+18T>C
NM_194248.3(OTOF):c.4501-10C>G
NM_194248.3(OTOF):c.4501-16C>T
NM_194248.3(OTOF):c.4501-17C>T
NM_194248.3(OTOF):c.4501-4C>G
NM_194248.3(OTOF):c.4501-6T>C
NM_194248.3(OTOF):c.4505C>T (p.Thr1502Met)
NM_194248.3(OTOF):c.4506G>A (p.Thr1502=)
NM_194248.3(OTOF):c.4509C>T (p.Asp1503=)
NM_194248.3(OTOF):c.4513C>T (p.His1505Tyr)
NM_194248.3(OTOF):c.4515C>T (p.His1505=)
NM_194248.3(OTOF):c.4521T>A (p.Ala1507=)
NM_194248.3(OTOF):c.4536A>G (p.Lys1512=)
NM_194248.3(OTOF):c.4545C>G (p.Pro1515=) rs1194135005
NM_194248.3(OTOF):c.4551C>T (p.Ile1517=)
NM_194248.3(OTOF):c.4554C>T (p.Ala1518=)
NM_194248.3(OTOF):c.4558C>A (p.Arg1520=)
NM_194248.3(OTOF):c.456G>A (p.Leu152=)
NM_194248.3(OTOF):c.4572T>C (p.Thr1524=)
NM_194248.3(OTOF):c.4581C>A (p.Arg1527=)
NM_194248.3(OTOF):c.4596del (p.Asn1531_Tyr1532insTer)
NM_194248.3(OTOF):c.45C>T (p.Gly15=)
NM_194248.3(OTOF):c.4628+13G>T
NM_194248.3(OTOF):c.4629-11C>T
NM_194248.3(OTOF):c.4629-7C>T
NM_194248.3(OTOF):c.4629-8C>A
NM_194248.3(OTOF):c.462A>G (p.Pro154=)
NM_194248.3(OTOF):c.4641C>G (p.Ile1547Met)
NM_194248.3(OTOF):c.4653C>T (p.Phe1551=)
NM_194248.3(OTOF):c.4665C>T (p.Ser1555=)
NM_194248.3(OTOF):c.4683G>A (p.Val1561=)
NM_194248.3(OTOF):c.46del (p.Arg16fs)
NM_194248.3(OTOF):c.471G>C (p.Arg157=)
NM_194248.3(OTOF):c.4722G>A (p.Gly1574=)
NM_194248.3(OTOF):c.4746C>T (p.Asn1582=)
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
NM_194248.3(OTOF):c.4749C>G (p.Arg1583=)
NM_194248.3(OTOF):c.4755C>T (p.Tyr1585=)
NM_194248.3(OTOF):c.4759A>T (p.Lys1587Ter)
NM_194248.3(OTOF):c.4764C>T (p.His1588=)
NM_194248.3(OTOF):c.4771A>G (p.Thr1591Ala)
NM_194248.3(OTOF):c.4776C>A (p.Cys1592Ter)
NM_194248.3(OTOF):c.4776C>T (p.Cys1592=)
NM_194248.3(OTOF):c.4782C>A (p.Ile1594=)
NM_194248.3(OTOF):c.4799+10G>T
NM_194248.3(OTOF):c.4799+12A>G
NM_194248.3(OTOF):c.4799+13_4799+19del rs2148027432
NM_194248.3(OTOF):c.4799+1G>C
NM_194248.3(OTOF):c.4799+1G>T
NM_194248.3(OTOF):c.4799+2T>C
NM_194248.3(OTOF):c.4799+8G>A
NM_194248.3(OTOF):c.4799+8G>C
NM_194248.3(OTOF):c.4800-11C>G
NM_194248.3(OTOF):c.4800-16G>T
NM_194248.3(OTOF):c.4800-19del
NM_194248.3(OTOF):c.4803T>C (p.His1601=)
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.4809C>T (p.Tyr1603=)
NM_194248.3(OTOF):c.480C>T (p.Ser160=)
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>T (p.Asp1608=)
NM_194248.3(OTOF):c.482G>A (p.Arg161Gln)
NM_194248.3(OTOF):c.4836C>T (p.Pro1612=)
NM_194248.3(OTOF):c.4845C>T (p.Ile1615=)
NM_194248.3(OTOF):c.4846C>T (p.Leu1616=)
NM_194248.3(OTOF):c.4866C>T (p.Asp1622=)
NM_194248.3(OTOF):c.4877_4880del (p.Asp1626fs)
NM_194248.3(OTOF):c.4878C>T (p.Asp1626=) rs397517947
NM_194248.3(OTOF):c.4887C>T (p.His1629=)
NM_194248.3(OTOF):c.4892G>A (p.Gly1631Glu)
NM_194248.3(OTOF):c.489A>G (p.Pro163=)
NM_194248.3(OTOF):c.4902G>T (p.Gly1634=)
NM_194248.3(OTOF):c.490G>T (p.Gly164Ter)
NM_194248.3(OTOF):c.4923C>T (p.Arg1641=)
NM_194248.3(OTOF):c.4932T>C (p.Thr1644=)
NM_194248.3(OTOF):c.4936C>A (p.Pro1646Thr)
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.4938C>T (p.Pro1646=)
NM_194248.3(OTOF):c.493G>T (p.Glu165Ter)
NM_194248.3(OTOF):c.4941T>G (p.Ser1647=)
NM_194248.3(OTOF):c.4953C>T (p.Asp1651=)
NM_194248.3(OTOF):c.4954G>A (p.Glu1652Lys)
NM_194248.3(OTOF):c.4954G>C (p.Glu1652Gln)
NM_194248.3(OTOF):c.4959del (p.Asn1653fs)
NM_194248.3(OTOF):c.495G>A (p.Glu165=)
NM_194248.3(OTOF):c.4960+12C>T
NM_194248.3(OTOF):c.4960+16A>G
NM_194248.3(OTOF):c.4960+7G>A
NM_194248.3(OTOF):c.4960+9G>T
NM_194248.3(OTOF):c.4961-10G>C
NM_194248.3(OTOF):c.4961-15C>G
NM_194248.3(OTOF):c.4961-15C>T
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
NM_194248.3(OTOF):c.4961-6C>T
NM_194248.3(OTOF):c.4989G>A (p.Val1663=)
NM_194248.3(OTOF):c.4992G>A (p.Ala1664=)
NM_194248.3(OTOF):c.4993C>T (p.Leu1665=)
NM_194248.3(OTOF):c.4995G>A (p.Leu1665=)
NM_194248.3(OTOF):c.5003T>C (p.Leu1668Pro)
NM_194248.3(OTOF):c.5004G>A (p.Leu1668=)
NM_194248.3(OTOF):c.5013G>A (p.Trp1671Ter)
NM_194248.3(OTOF):c.501C>A (p.Ser167Arg)
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.509+13A>T
NM_194248.3(OTOF):c.509+14C>A
NM_194248.3(OTOF):c.509+17C>T
NM_194248.3(OTOF):c.509+20T>C
NM_194248.3(OTOF):c.510-10C>A
NM_194248.3(OTOF):c.510-11C>T
NM_194248.3(OTOF):c.510-12C>T
NM_194248.3(OTOF):c.510-13G>A
NM_194248.3(OTOF):c.510-13G>T
NM_194248.3(OTOF):c.510-19C>T
NM_194248.3(OTOF):c.510-1G>A
NM_194248.3(OTOF):c.510-7C>A
NM_194248.3(OTOF):c.510-7del
NM_194248.3(OTOF):c.510-9C>G
NM_194248.3(OTOF):c.513C>T (p.Ala171=)
NM_194248.3(OTOF):c.5193-18T>G
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.5193-1G>C
NM_194248.3(OTOF):c.5193-3del
NM_194248.3(OTOF):c.5193-6G>C
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=)
NM_194248.3(OTOF):c.5206del (p.Val1736fs)
NM_194248.3(OTOF):c.5220C>T (p.Asn1740=)
NM_194248.3(OTOF):c.5229G>A (p.Glu1743=)
NM_194248.3(OTOF):c.5232G>A (p.Val1744=)
NM_194248.3(OTOF):c.5241G>A (p.Glu1747=)
NM_194248.3(OTOF):c.5244C>T (p.Asp1748=)
NM_194248.3(OTOF):c.5247C>T (p.Asp1749=)
NM_194248.3(OTOF):c.5253C>T (p.Phe1751=)
NM_194248.3(OTOF):c.5256C>T (p.Phe1752=)
NM_194248.3(OTOF):c.5280C>T (p.Ile1760=)
NM_194248.3(OTOF):c.5291+13del
NM_194248.3(OTOF):c.5291+18G>A
NM_194248.3(OTOF):c.5291+18G>C
NM_194248.3(OTOF):c.5291+18G>T
NM_194248.3(OTOF):c.5291+8A>G rs2148020867
NM_194248.3(OTOF):c.5292-20T>C
NM_194248.3(OTOF):c.5292-29_5292-19dup
NM_194248.3(OTOF):c.5292-4A>C
NM_194248.3(OTOF):c.5292-5C>T
NM_194248.3(OTOF):c.5292-8G>A
NM_194248.3(OTOF):c.5298G>A (p.Leu1766=)
NM_194248.3(OTOF):c.52G>A (p.Asp18Asn)
NM_194248.3(OTOF):c.5308C>T (p.Gln1770Ter)
NM_194248.3(OTOF):c.5319G>A (p.Lys1773=)
NM_194248.3(OTOF):c.5323G>C (p.Asp1775His)
NM_194248.3(OTOF):c.5343C>A (p.His1781Gln) rs375826721
NM_194248.3(OTOF):c.5346C>A (p.Ser1782=)
NM_194248.3(OTOF):c.5349C>T (p.Leu1783=)
NM_194248.3(OTOF):c.5355C>T (p.Gly1785=)
NM_194248.3(OTOF):c.5364C>T (p.Asn1788=)
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=)
NM_194248.3(OTOF):c.5388C>T (p.Pro1796=)
NM_194248.3(OTOF):c.5402C>T (p.Ala1801Val)
NM_194248.3(OTOF):c.5431A>T (p.Lys1811Ter) rs1487432642
NM_194248.3(OTOF):c.5435A>G (p.Glu1812Gly)
NM_194248.3(OTOF):c.5436G>A (p.Glu1812=)
NM_194248.3(OTOF):c.5445C>T (p.Phe1815=)
NM_194248.3(OTOF):c.5454C>T (p.Asp1818=)
NM_194248.3(OTOF):c.5455G>A (p.Glu1819Lys)
NM_194248.3(OTOF):c.5460C>G (p.Thr1820=)
NM_194248.3(OTOF):c.5461G>A (p.Glu1821Lys)
NM_194248.3(OTOF):c.5466C>T (p.Tyr1822=)
NM_194248.3(OTOF):c.5469G>A (p.Lys1823=)
NM_194248.3(OTOF):c.5475C>A (p.Pro1825=) rs760178516
NM_194248.3(OTOF):c.5475C>T (p.Pro1825=)
NM_194248.3(OTOF):c.5476G>A (p.Ala1826Thr)
NM_194248.3(OTOF):c.5478G>A (p.Ala1826=)
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=)
NM_194248.3(OTOF):c.5487C>T (p.Thr1829=)
NM_194248.3(OTOF):c.5502T>C (p.Asp1834=)
NM_194248.3(OTOF):c.5508C>T (p.Asp1836=)
NM_194248.3(OTOF):c.5517C>T (p.Ser1839=)
NM_194248.3(OTOF):c.5520del (p.Asp1841fs)
NM_194248.3(OTOF):c.5531del (p.Leu1844fs) rs1164047840
NM_194248.3(OTOF):c.5533+1G>A
NM_194248.3(OTOF):c.5533+9C>G
NM_194248.3(OTOF):c.5533+9CAGGG[3]
NM_194248.3(OTOF):c.5534-4A>G
NM_194248.3(OTOF):c.5535G>A (p.Gly1845=)
NM_194248.3(OTOF):c.5541C>T (p.Ile1847=)
NM_194248.3(OTOF):c.5557C>A (p.Arg1853=)
NM_194248.3(OTOF):c.5559G>T (p.Arg1853=)
NM_194248.3(OTOF):c.5565G>A (p.Pro1855=)
NM_194248.3(OTOF):c.5566C>A (p.Arg1856=)
NM_194248.3(OTOF):c.5571C>T (p.Gly1857=)
NM_194248.3(OTOF):c.5586G>A (p.Lys1862=)
NM_194248.3(OTOF):c.5595C>T (p.Thr1865=)
NM_194248.3(OTOF):c.5613G>A (p.Gly1871=)
NM_194248.3(OTOF):c.5616G>A (p.Glu1872=)
NM_194248.3(OTOF):c.5622C>T (p.Asp1874=)
NM_194248.3(OTOF):c.5628C>T (p.Pro1876=)
NM_194248.3(OTOF):c.5631C>T (p.Leu1877=)
NM_194248.3(OTOF):c.5634G>A (p.Val1878=)
NM_194248.3(OTOF):c.5646G>A (p.Lys1882=)
NM_194248.3(OTOF):c.5652G>A (p.Lys1884=)
NM_194248.3(OTOF):c.5658C>G (p.Val1886=)
NM_194248.3(OTOF):c.5661del (p.Gly1888fs)
NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)
NM_194248.3(OTOF):c.5673C>T (p.Pro1891=)
NM_194248.3(OTOF):c.5674C>A (p.Leu1892Ile)
NM_194248.3(OTOF):c.5682C>G (p.Ala1894=)
NM_194248.3(OTOF):c.5684G>A (p.Arg1895His)
NM_194248.3(OTOF):c.5697T>C (p.Asp1899=)
NM_194248.3(OTOF):c.5700G>A (p.Glu1900=)
NM_194248.3(OTOF):c.5703T>C (p.Phe1901=)
NM_194248.3(OTOF):c.5712+11dup
NM_194248.3(OTOF):c.5712+14C>T
NM_194248.3(OTOF):c.5712+15C>T
NM_194248.3(OTOF):c.5712+16T>C
NM_194248.3(OTOF):c.5712+7_5712+18del
NM_194248.3(OTOF):c.5712+8C>A
NM_194248.3(OTOF):c.5713-16T>A rs2148017878
NM_194248.3(OTOF):c.5713-18C>A
NM_194248.3(OTOF):c.5713-6C>T
NM_194248.3(OTOF):c.5718G>A (p.Lys1906=)
NM_194248.3(OTOF):c.5727T>A (p.Ala1909=)
NM_194248.3(OTOF):c.5740C>T (p.Leu1914=)
NM_194248.3(OTOF):c.5745A>C (p.Thr1915=)
NM_194248.3(OTOF):c.5766C>T (p.Asn1922=)
NM_194248.3(OTOF):c.5772G>A (p.Val1924=)
NM_194248.3(OTOF):c.5776C>A (p.Leu1926Met)
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5812_5813+2del
NM_194248.3(OTOF):c.5813+14C>T
NM_194248.3(OTOF):c.5813+9C>T rs1328837186
NM_194248.3(OTOF):c.5814-13C>T
NM_194248.3(OTOF):c.5814-14C>A
NM_194248.3(OTOF):c.5814-17T>C
NM_194248.3(OTOF):c.5814-1_5833del
NM_194248.3(OTOF):c.5814-20C>T
NM_194248.3(OTOF):c.5814-20dup
NM_194248.3(OTOF):c.5814-6C>T
NM_194248.3(OTOF):c.5814-7A>T
NM_194248.3(OTOF):c.5814-8T>C
NM_194248.3(OTOF):c.5814-9A>G
NM_194248.3(OTOF):c.584-11A>C
NM_194248.3(OTOF):c.584-11A>G
NM_194248.3(OTOF):c.584-17T>G
NM_194248.3(OTOF):c.584-18G>T
NM_194248.3(OTOF):c.5859G>A (p.Ser1953=)
NM_194248.3(OTOF):c.5859G>T (p.Ser1953=)
NM_194248.3(OTOF):c.5864G>A (p.Arg1955His)
NM_194248.3(OTOF):c.5868C>A (p.Tyr1956Ter)
NM_194248.3(OTOF):c.5883G>A (p.Thr1961=)
NM_194248.3(OTOF):c.5892G>A (p.Trp1964Ter)
NM_194248.3(OTOF):c.5904A>G (p.Lys1968=)
NM_194248.3(OTOF):c.5907G>A (p.Leu1969=)
NM_194248.3(OTOF):c.5907G>C (p.Leu1969=)
NM_194248.3(OTOF):c.5916C>T (p.Leu1972=)
NM_194248.3(OTOF):c.5917C>T (p.Leu1973=)
NM_194248.3(OTOF):c.5928C>G (p.Leu1976=)
NM_194248.3(OTOF):c.5937C>T (p.Leu1979=)
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_194248.3(OTOF):c.593C>T (p.Ala198Val)
NM_194248.3(OTOF):c.5940C>G (p.Ala1980=)
NM_194248.3(OTOF):c.5940C>T (p.Ala1980=)
NM_194248.3(OTOF):c.5941C>T (p.Leu1981=)
NM_194248.3(OTOF):c.5943G>A (p.Leu1981=)
NM_194248.3(OTOF):c.594G>A (p.Ala198=)
NM_194248.3(OTOF):c.5952C>T (p.Tyr1984=)
NM_194248.3(OTOF):c.5958G>C (p.Val1986=) rs2148016510
NM_194248.3(OTOF):c.5967C>T (p.Tyr1989=)
NM_194248.3(OTOF):c.5970G>A (p.Leu1990=)
NM_194248.3(OTOF):c.5985C>T (p.Leu1995=)
NM_194248.3(OTOF):c.60C>A (p.Ile20=)
NM_194248.3(OTOF):c.60C>T (p.Ile20=)
NM_194248.3(OTOF):c.631C>A (p.Arg211=)
NM_194248.3(OTOF):c.633G>C (p.Arg211=) rs1572456253
NM_194248.3(OTOF):c.642T>C (p.Asp214=)
NM_194248.3(OTOF):c.660G>C (p.Ser220=)
NM_194248.3(OTOF):c.691A>G (p.Thr231Ala)
NM_194248.3(OTOF):c.708G>A (p.Lys236=)
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter) rs397515610
NM_194248.3(OTOF):c.710+11G>A
NM_194248.3(OTOF):c.710+11G>C
NM_194248.3(OTOF):c.710+13G>T
NM_194248.3(OTOF):c.710+13dup
NM_194248.3(OTOF):c.711-11C>T
NM_194248.3(OTOF):c.711-19G>A
NM_194248.3(OTOF):c.711-1G>T
NM_194248.3(OTOF):c.711-5C>T
NM_194248.3(OTOF):c.711-9C>G
NM_194248.3(OTOF):c.711-9C>T
NM_194248.3(OTOF):c.718C>G (p.Pro240Ala)
NM_194248.3(OTOF):c.727A>T (p.Lys243Ter)
NM_194248.3(OTOF):c.730A>G (p.Met244Val) rs1443086050
NM_194248.3(OTOF):c.765+15G>A
NM_194248.3(OTOF):c.765+19G>T
NM_194248.3(OTOF):c.765+20C>A
NM_194248.3(OTOF):c.765+20C>G
NM_194248.3(OTOF):c.765+20C>T
NM_194248.3(OTOF):c.765+2T>C
NM_194248.3(OTOF):c.766-10C>T
NM_194248.3(OTOF):c.766-11C>T
NM_194248.3(OTOF):c.766-20C>T
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_194248.3(OTOF):c.776C>T (p.Thr259Met)
NM_194248.3(OTOF):c.777G>A (p.Thr259=)
NM_194248.3(OTOF):c.786G>A (p.Glu262=)
NM_194248.3(OTOF):c.79+11C>T
NM_194248.3(OTOF):c.79+17C>A
NM_194248.3(OTOF):c.79+18T>C
NM_194248.3(OTOF):c.79+7A>T
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.798G>A (p.Leu266=)
NM_194248.3(OTOF):c.799dup (p.Val267fs)
NM_194248.3(OTOF):c.80-18T>C
NM_194248.3(OTOF):c.80-20T>C
NM_194248.3(OTOF):c.80-2A>G
NM_194248.3(OTOF):c.80-6C>A
NM_194248.3(OTOF):c.80-6C>T
NM_194248.3(OTOF):c.822G>A (p.Val274=)
NM_194248.3(OTOF):c.822G>C (p.Val274=)
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_194248.3(OTOF):c.840T>A (p.Gly280=)
NM_194248.3(OTOF):c.852G>A (p.Lys284=)
NM_194248.3(OTOF):c.870G>A (p.Glu290=)
NM_194248.3(OTOF):c.87C>T (p.Ser29=)
NM_194248.3(OTOF):c.885C>T (p.Pro295=)
NM_194248.3(OTOF):c.897+11C>T
NM_194248.3(OTOF):c.898-10C>A
NM_194248.3(OTOF):c.898-12T>C
NM_194248.3(OTOF):c.898-13C>T
NM_194248.3(OTOF):c.898-2A>G
NM_194248.3(OTOF):c.898-6C>A rs199687628
NM_194248.3(OTOF):c.898-6C>T
NM_194248.3(OTOF):c.898-6del
NM_194248.3(OTOF):c.898-6dup
NM_194248.3(OTOF):c.909C>T (p.Phe303=)
NM_194248.3(OTOF):c.921C>G (p.Val307=)
NM_194248.3(OTOF):c.921C>T (p.Val307=)
NM_194248.3(OTOF):c.93C>T (p.Tyr31=)
NM_194248.3(OTOF):c.948C>T (p.Ile316=)
NM_194248.3(OTOF):c.957T>C (p.Ile319=)
NM_194248.3(OTOF):c.960+13C>A
NM_194248.3(OTOF):c.960+13C>T
NM_194248.3(OTOF):c.960+15G>A
NM_194248.3(OTOF):c.960+16C>A
NM_194248.3(OTOF):c.960+17C>G
NM_194248.3(OTOF):c.960+17C>T
NM_194248.3(OTOF):c.960+1G>C
NM_194248.3(OTOF):c.960+20T>C
NM_194248.3(OTOF):c.961-11C>G
NM_194248.3(OTOF):c.961-14G>A
NM_194248.3(OTOF):c.961-18T>C
NM_194248.3(OTOF):c.961-8C>T
NM_194248.3(OTOF):c.969C>T (p.His323=)
NM_194248.3(OTOF):c.978C>T (p.Asn326=)
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.981G>A (p.Leu327=)
NM_194248.3(OTOF):c.990T>C (p.Ser330=)
NM_194248.3(OTOF):c.993_1003del (p.Thr332fs)
NM_194248.3(OTOF):c.9G>A (p.Leu3=)
NM_194323.3(OTOF):c.3615G>A (p.Ala1205=)
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359
NM_194323.3(OTOF):c.3631A>T (p.Met1211Leu) rs1482726409

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