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=)
|
|
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NM_194248.3(OTOF):c.5937C>T (p.Leu1979=)
|
|
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NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser)
|
rs62640381
|
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NM_194248.3(OTOF):c.593C>T (p.Ala198Val)
|
|
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NM_194248.3(OTOF):c.5940C>G (p.Ala1980=)
|
|
|
NM_194248.3(OTOF):c.5940C>T (p.Ala1980=)
|
|
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NM_194248.3(OTOF):c.5941C>T (p.Leu1981=)
|
|
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NM_194248.3(OTOF):c.5943G>A (p.Leu1981=)
|
|
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NM_194248.3(OTOF):c.594G>A (p.Ala198=)
|
|
|
NM_194248.3(OTOF):c.5952C>T (p.Tyr1984=)
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NM_194248.3(OTOF):c.5958G>C (p.Val1986=)
|
rs2148016510
|
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NM_194248.3(OTOF):c.5967C>T (p.Tyr1989=)
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NM_194248.3(OTOF):c.5970G>A (p.Leu1990=)
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NM_194248.3(OTOF):c.5985C>T (p.Leu1995=)
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NM_194248.3(OTOF):c.60C>A (p.Ile20=)
|
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NM_194248.3(OTOF):c.60C>T (p.Ile20=)
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NM_194248.3(OTOF):c.631C>A (p.Arg211=)
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NM_194248.3(OTOF):c.633G>C (p.Arg211=)
|
rs1572456253
|
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NM_194248.3(OTOF):c.642T>C (p.Asp214=)
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NM_194248.3(OTOF):c.660G>C (p.Ser220=)
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NM_194248.3(OTOF):c.691A>G (p.Thr231Ala)
|
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NM_194248.3(OTOF):c.708G>A (p.Lys236=)
|
|
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NM_194248.3(OTOF):c.709C>T (p.Arg237Ter)
|
rs397515610
|
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NM_194248.3(OTOF):c.710+11G>A
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NM_194248.3(OTOF):c.710+11G>C
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NM_194248.3(OTOF):c.710+13G>T
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NM_194248.3(OTOF):c.710+13dup
|
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NM_194248.3(OTOF):c.711-11C>T
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NM_194248.3(OTOF):c.711-19G>A
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NM_194248.3(OTOF):c.711-1G>T
|
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NM_194248.3(OTOF):c.711-5C>T
|
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NM_194248.3(OTOF):c.711-9C>G
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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
|
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|
NM_194248.3(OTOF):c.765+20C>A
|
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|
NM_194248.3(OTOF):c.765+20C>G
|
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|
NM_194248.3(OTOF):c.765+20C>T
|
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|
NM_194248.3(OTOF):c.765+2T>C
|
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|
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=)
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|
|
NM_194248.3(OTOF):c.79+11C>T
|
|
|
NM_194248.3(OTOF):c.79+17C>A
|
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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
|
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|
NM_194248.3(OTOF):c.80-20T>C
|
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|
NM_194248.3(OTOF):c.80-2A>G
|
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NM_194248.3(OTOF):c.80-6C>A
|
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|
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
|
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|
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
|
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|
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
|
|