NM_194248.3(OTOF):c.1804-190T>C
|
rs6719195
|
0.98509
|
NM_194248.3(OTOF):c.227+143A>G
|
rs10865425
|
0.94999
|
NM_194248.3(OTOF):c.509+282G>A
|
rs4665867
|
0.89028
|
NM_194248.3(OTOF):c.328-313G>A
|
rs11126533
|
0.85321
|
NM_194248.3(OTOF):c.227+55C>T
|
rs1879760
|
0.69284
|
NM_194248.3(OTOF):c.711-49A>C
|
rs6547079
|
0.64250
|
NM_194248.3(OTOF):c.897+169T>C
|
rs939814
|
0.62444
|
NM_194248.3(OTOF):c.2214+319A>G
|
rs1815040
|
0.62280
|
NM_194248.3(OTOF):c.3126+208C>G
|
rs4427975
|
0.61761
|
NM_194248.3(OTOF):c.2215-291G>C
|
rs6749978
|
0.58647
|
NM_194248.3(OTOF):c.4090+252A>G
|
rs4665326
|
0.57421
|
NM_194248.3(OTOF):c.2736G>C (p.Leu912=)
|
rs4335905
|
0.56927
|
NM_194248.3(OTOF):c.509+39A>T
|
rs7575020
|
0.51850
|
NM_194248.3(OTOF):c.1206-126A>G
|
rs4665328
|
0.46895
|
NM_194248.3(OTOF):c.3126+277C>T
|
rs4458167
|
0.42252
|
NM_194248.3(OTOF):c.3864+244T>C
|
rs6743467
|
0.38510
|
NM_194248.3(OTOF):c.2991+100C>A
|
rs6712188
|
0.38424
|
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)
|
rs13031859
|
0.35740
|
NM_194248.3(OTOF):c.80-281G>A
|
rs1522100
|
0.34814
|
NM_194248.3(OTOF):c.79+114C>G
|
rs4665880
|
0.33988
|
NM_194248.3(OTOF):c.4023+246A>G
|
rs34796712
|
0.33736
|
NC_000002.12:g.26558897G>A
|
rs7556908
|
0.32523
|
NM_194248.3(OTOF):c.227+280G>C
|
rs56246466
|
0.31748
|
NM_194248.3(OTOF):c.510-39C>T
|
rs884390
|
0.30697
|
NM_194248.3(OTOF):c.766-238G>A
|
rs34780859
|
0.30282
|
NM_194248.3(OTOF):c.765+180T>C
|
rs7589019
|
0.25006
|
NM_194248.3(OTOF):c.372A>G (p.Thr124=)
|
rs11687696
|
0.23539
|
NM_194248.3(OTOF):c.4500+317G>A
|
rs7576373
|
0.21767
|
NM_194248.3(OTOF):c.1045+250G>T
|
rs12052886
|
0.19409
|
NM_194248.3(OTOF):c.2214+50C>T
|
rs61323419
|
0.11888
|
NM_194248.3(OTOF):c.710+123A>G
|
rs7592534
|
0.11717
|
NM_194248.3(OTOF):c.*17+230A>G
|
rs4416176
|
0.10990
|
NM_194248.3(OTOF):c.3894+22G>A
|
rs2272072
|
0.08941
|
NM_194248.3(OTOF):c.328-59T>C
|
rs55682147
|
0.08624
|
NM_194248.3(OTOF):c.5533+67G>A
|
rs2280512
|
0.08003
|
NM_194248.3(OTOF):c.1205+209T>C
|
rs10184906
|
0.07691
|
NM_194248.3(OTOF):c.945G>A (p.Lys315=)
|
rs41288779
|
0.07420
|
NM_194248.3(OTOF):c.79+250C>T
|
rs10177332
|
0.07338
|
NM_194248.3(OTOF):c.2406+36G>A
|
rs56284635
|
0.06680
|
NM_194248.3(OTOF):c.5534-108A>G
|
rs9808099
|
0.06482
|
NM_194248.3(OTOF):c.1046-92A>T
|
rs55763868
|
0.06437
|
NM_194248.3(OTOF):c.1046-248G>A
|
rs55838869
|
0.06335
|
NM_194248.3(OTOF):c.4091-151G>A
|
rs59761427
|
0.05483
|
NM_194248.3(OTOF):c.138+28T>G
|
rs13398223
|
0.05107
|
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=)
|
rs45442103
|
0.04640
|
NM_194248.3(OTOF):c.1393-67C>A
|
rs74802025
|
0.04606
|
NM_194248.3(OTOF):c.2829C>T (p.Gly943=)
|
rs73920285
|
0.03958
|
NM_194248.3(OTOF):c.4677G>A (p.Val1559=)
|
rs2272071
|
0.03875
|
NM_194248.3(OTOF):c.2703G>A (p.Ser901=)
|
rs4997760
|
0.03814
|
NM_194248.3(OTOF):c.*372C>T
|
rs56025829
|
0.03793
|
NM_194248.3(OTOF):c.509+10A>G
|
rs76712142
|
0.03772
|
NM_194248.3(OTOF):c.3864+33G>A
|
rs41286015
|
0.03766
|
NM_194248.3(OTOF):c.3864+49G>A
|
rs41286013
|
0.03764
|
NM_194248.3(OTOF):c.327+70C>A
|
rs78296411
|
0.03755
|
NM_194248.3(OTOF):c.4090+94C>T
|
rs56265746
|
0.03747
|
NM_194248.3(OTOF):c.139-188C>T
|
rs55970371
|
0.03704
|
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.3127-285G>A
|
rs4328596
|
0.03252
|
NM_194248.3(OTOF):c.4800-203T>C
|
rs72853723
|
0.03111
|
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.328-164T>C
|
rs111736770
|
0.02469
|
NM_194248.3(OTOF):c.3734-172G>A
|
rs114834581
|
0.02432
|
NM_194248.3(OTOF):c.3865-167C>T
|
rs114410533
|
0.02428
|
NM_194248.3(OTOF):c.4341G>A (p.Glu1447=)
|
rs80214437
|
0.02415
|
NM_194248.3(OTOF):c.898-102T>C
|
rs78947900
|
0.02365
|
NM_194248.3(OTOF):c.-120G>T
|
rs114469860
|
0.02362
|
NM_194248.3(OTOF):c.3289-85C>A
|
rs116154138
|
0.02130
|
NM_194248.3(OTOF):c.960+141C>G
|
rs41288775
|
0.02129
|
NM_194248.3(OTOF):c.*18-30G>A
|
rs72853717
|
0.02003
|
NM_194248.3(OTOF):c.4501-139C>A
|
rs73920283
|
0.01795
|
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.1580-96C>T
|
rs72853743
|
0.01662
|
NM_194248.3(OTOF):c.-67G>A
|
rs13422586
|
0.01603
|
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.3864+40T>C
|
rs74748719
|
0.00775
|
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.2215-77T>G
|
rs76130130
|
0.00341
|
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.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.4980C>T (p.Asp1660=)
|
rs149549554
|
0.00164
|
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.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.3384C>T (p.Pro1128=)
|
rs145151677
|
0.00093
|
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=)
|
rs111033366
|
0.00091
|
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.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.1961G>A (p.Arg654Gln)
|
rs184605839
|
0.00048
|
NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser)
|
rs145588516
|
0.00040
|
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=)
|
rs150691499
|
0.00039
|
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.4023+1G>A
|
rs186810296
|
0.00031
|
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=)
|
rs149566576
|
0.00027
|
NM_194248.3(OTOF):c.506G>A (p.Arg169Gln)
|
rs149701372
|
0.00026
|
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.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.5196C>T (p.Tyr1732=)
|
rs138681366
|
0.00019
|
NM_194248.3(OTOF):c.5826G>A (p.Thr1942=)
|
rs111033353
|
0.00019
|
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr)
|
rs146618661
|
0.00018
|
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=)
|
rs141082575
|
0.00016
|
NM_194248.3(OTOF):c.446C>T (p.Thr149Met)
|
rs140454738
|
0.00015
|
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu)
|
rs181805996
|
0.00011
|
NM_194248.3(OTOF):c.2512C>T (p.Leu838=)
|
rs146139327
|
0.00011
|
NM_194248.3(OTOF):c.3127-5G>A
|
rs375186827
|
0.00006
|
NM_194248.3(OTOF):c.1317T>C (p.Asn439=)
|
rs201171459
|
0.00004
|
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=)
|
rs199854846
|
0.00003
|
NM_194248.3(OTOF):c.660G>A (p.Ser220=)
|
rs745785393
|
0.00003
|
NM_194248.3(OTOF):c.297G>A (p.Thr99=)
|
rs397517941
|
0.00001
|
NM_194248.3(OTOF):c.3682C>T (p.Arg1228Cys)
|
rs774452184
|
0.00001
|
GRCh37/hg19 2p23.3(chr2:26711829-26725045)x1
|
|
|
NC_000002.12:g.26558819TG[9]
|
rs10552648
|
|
NM_194248.3(OTOF):c.*17+59_*17+60insACAT
|
rs58898450
|
|
NM_194248.3(OTOF):c.1045+52_1045+65del
|
rs71915319
|
|
NM_194248.3(OTOF):c.1205+145C>T
|
rs55877994
|
|
NM_194248.3(OTOF):c.1393-15T>G
|
|
|
NM_194248.3(OTOF):c.1393-301C>T
|
rs56846135
|
|
NM_194248.3(OTOF):c.1803+7dup
|
rs755835793
|
|
NM_194248.3(OTOF):c.1912+17C>T
|
|
|
NM_194248.3(OTOF):c.1967G>A (p.Arg656Gln)
|
|
|
NM_194248.3(OTOF):c.2093+19C>T
|
|
|
NM_194248.3(OTOF):c.2214+74del
|
rs10714255
|
|
NM_194248.3(OTOF):c.2215-204_2215-203del
|
rs55806442
|
|
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu)
|
rs111033392
|
|
NM_194248.3(OTOF):c.2406+19G>A
|
|
|
NM_194248.3(OTOF):c.2580C>G (p.Val860=)
|
rs2272069
|
|
NM_194248.3(OTOF):c.2677-224_2677-213del
|
rs569183061
|
|
NM_194248.3(OTOF):c.2733G>A (p.Glu911=)
|
|
|
NM_194248.3(OTOF):c.2773T>C (p.Phe925Leu)
|
|
|
NM_194248.3(OTOF):c.2992-47dup
|
rs552439777
|
|
NM_194248.3(OTOF):c.3148C>T (p.Arg1050Trp)
|
|
|
NM_194248.3(OTOF):c.32C>T (p.Ser11Leu)
|
rs200972155
|
|
NM_194248.3(OTOF):c.340G>A (p.Val114Met)
|
|
|
NM_194248.3(OTOF):c.4332C>A (p.Thr1444=)
|
|
|
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=)
|
rs149236286
|
|
NM_194248.3(OTOF):c.4362+54del
|
rs3215308
|
|
NM_194248.3(OTOF):c.4402G>A (p.Val1468Met)
|
|
|
NM_194248.3(OTOF):c.4629-8C>A
|
|
|
NM_194248.3(OTOF):c.4799+218G>A
|
rs58155484
|
|
NM_194248.3(OTOF):c.4936C>A (p.Pro1646Thr)
|
|
|
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser)
|
rs17005371
|
|
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp)
|
rs61744348
|
|
NM_194248.3(OTOF):c.510-7del
|
|
|
NM_194248.3(OTOF):c.51C>T (p.Gly17=)
|
rs142333075
|
|
NM_194248.3(OTOF):c.5280C>T (p.Ile1760=)
|
|
|
NM_194248.3(OTOF):c.5534-198A>T
|
rs114397533
|
|
NM_194248.3(OTOF):c.5712+11dup
|
|
|
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser)
|
rs62640381
|
|
NM_194248.3(OTOF):c.766-192del
|
rs113467224
|
|
NM_194248.3(OTOF):c.897+278_897+279insA
|
rs150805853
|
|
NM_194248.3(OTOF):c.897+285_897+286insT
|
rs1553356373
|
|
NM_194248.3(OTOF):c.898-6del
|
|
|
NM_194248.3(OTOF):c.898-6dup
|
|
|