NM_206933.4(USH2A):c.3157+254G>A
|
rs419767
|
0.97061
|
NM_206933.4(USH2A):c.11389+233A>G
|
rs2820730
|
0.96609
|
NM_206933.4(USH2A):c.6486-185C>T
|
rs1436780
|
0.94448
|
NM_206933.4(USH2A):c.4082-66A>C
|
rs386851
|
0.90510
|
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=)
|
rs2797235
|
0.74921
|
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr)
|
rs10779261
|
0.73169
|
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr)
|
rs6657250
|
0.67783
|
NM_206933.4(USH2A):c.11231+259A>C
|
rs1832951
|
0.64726
|
NM_206933.4(USH2A):c.11048-275G>A
|
rs2797227
|
0.63968
|
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys)
|
rs1805049
|
0.62414
|
NM_206933.4(USH2A):c.11712-261C>A
|
rs10864191
|
0.62145
|
NM_206933.4(USH2A):c.504A>G (p.Thr168=)
|
rs4253963
|
0.61366
|
NM_206933.4(USH2A):c.9958+4171T>C
|
rs10746458
|
0.60755
|
NM_206933.4(USH2A):c.10388-27T>C
|
rs7518466
|
0.59567
|
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)
|
rs10864198
|
0.58403
|
NM_206933.4(USH2A):c.3157+35G>A
|
rs1324330
|
0.54884
|
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr)
|
rs10864219
|
0.50009
|
NM_206933.4(USH2A):c.8845+382A>G
|
rs2147912
|
0.44373
|
NM_206933.4(USH2A):c.9958+246A>C
|
rs11120635
|
0.41458
|
NM_206933.4(USH2A):c.11390-55C>T
|
rs4053764
|
0.41199
|
NM_206933.4(USH2A):c.11390-264A>G
|
rs138065808
|
0.41099
|
NM_206933.4(USH2A):c.8681+315A>G
|
rs11120686
|
0.40878
|
NM_206933.4(USH2A):c.9259-347C>A
|
rs1934429
|
0.39436
|
NM_206933.4(USH2A):c.848+103C>G
|
rs1339963
|
0.38613
|
NM_206933.4(USH2A):c.4457= (p.Arg1486=)
|
rs1805049
|
0.37586
|
NM_206933.4(USH2A):c.9371+245C>T
|
rs2027355
|
0.37303
|
NM_206933.4(USH2A):c.6163+155G>A
|
rs10864227
|
0.36644
|
NM_206933.4(USH2A):c.10585+267A>G
|
rs12122543
|
0.36615
|
NM_206933.4(USH2A):c.10585+211A>G
|
rs12122550
|
0.36576
|
NM_206933.4(USH2A):c.10586-196_10586-195dup
|
rs35071811
|
0.36528
|
NM_206933.4(USH2A):c.10585+143A>C
|
rs6665799
|
0.36073
|
NM_206933.4(USH2A):c.10183-260A>C
|
rs11804198
|
0.35233
|
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=)
|
rs2797234
|
0.33929
|
NM_206933.4(USH2A):c.6317= (p.Ile2106=)
|
rs6657250
|
0.32217
|
NM_206933.4(USH2A):c.1550+196del
|
rs34476340
|
0.31106
|
NM_206933.4(USH2A):c.1644+34A>C
|
rs7515253
|
0.28314
|
NM_206933.4(USH2A):c.1419C>T (p.Thr473=)
|
rs1805050
|
0.28143
|
NM_206933.4(USH2A):c.1551-82T>C
|
rs2089947
|
0.27687
|
NM_206933.4(USH2A):c.11711+71A>T
|
rs6694510
|
0.25144
|
NM_206933.4(USH2A):c.12612= (p.Thr4204=)
|
rs2797235
|
0.25079
|
NM_206933.4(USH2A):c.2168-282C>A
|
rs404925
|
0.24585
|
NM_206933.4(USH2A):c.8559-65T>C
|
rs7518358
|
0.23802
|
NM_206933.4(USH2A):c.2810-294G>T
|
rs378340
|
0.22653
|
NM_206933.4(USH2A):c.3812-8T>G
|
rs646094
|
0.20360
|
NM_206933.4(USH2A):c.4627+1038T>C
|
rs439940
|
0.20332
|
NM_206933.4(USH2A):c.4627+1142G>T
|
rs401269
|
0.20255
|
NM_206933.4(USH2A):c.5857+187C>T
|
rs17026017
|
0.20231
|
NM_206933.4(USH2A):c.1550+194del
|
rs1558037540
|
0.19359
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
NM_206933.4(USH2A):c.12294+134C>T
|
rs10864183
|
0.19091
|
NM_206933.4(USH2A):c.9959-330G>C
|
rs11120630
|
0.18898
|
NM_206933.4(USH2A):c.12295-86G>C
|
rs4443864
|
0.18868
|
NM_206933.4(USH2A):c.12067-117T>C
|
rs12140451
|
0.18044
|
NM_206933.4(USH2A):c.7595-2445G>A
|
rs7546633
|
0.17906
|
NM_206933.4(USH2A):c.4082-44G>A
|
rs447102
|
0.17427
|
NM_206933.4(USH2A):c.8224-109T>C
|
rs6669557
|
0.17227
|
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=)
|
rs2820718
|
0.17214
|
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)
|
rs56110889
|
0.16907
|
NM_206933.4(USH2A):c.11548+98G>A
|
rs2797223
|
0.15365
|
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)
|
rs2009923
|
0.15011
|
NM_206933.4(USH2A):c.7595-1906T>A
|
rs12741197
|
0.13453
|
NM_206933.4(USH2A):c.4628-63C>T
|
rs7540411
|
0.13052
|
NM_206933.4(USH2A):c.11389+9A>T
|
rs12095085
|
0.12571
|
NM_206933.4(USH2A):c.9740-259T>C
|
rs11120637
|
0.11884
|
NM_206933.4(USH2A):c.8223+203T>C
|
rs6682313
|
0.11122
|
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr)
|
rs56222536
|
0.10108
|
NM_206933.4(USH2A):c.1143+173C>G
|
rs34319905
|
0.09953
|
NM_206933.4(USH2A):c.6957+19A>G
|
rs6689120
|
0.09761
|
NM_206933.4(USH2A):c.15052+171T>G
|
rs111756158
|
0.09047
|
NM_206933.4(USH2A):c.9571-268T>G
|
rs12037735
|
0.09034
|
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=)
|
rs12404427
|
0.07727
|
NM_206933.4(USH2A):c.11390-53C>T
|
rs6540907
|
0.07479
|
NM_206933.4(USH2A):c.-205+226T>C
|
rs11804470
|
0.07330
|
NM_206933.4(USH2A):c.11390-116T>A
|
rs201541908
|
0.07298
|
NM_206933.4(USH2A):c.7594+22C>T
|
rs12401812
|
0.06862
|
NM_206933.4(USH2A):c.9959-4233A>G
|
rs17025432
|
0.06729
|
NM_206933.4(USH2A):c.9959-343C>A
|
rs77704873
|
0.06557
|
NM_206933.4(USH2A):c.10741-223G>A
|
rs17025416
|
0.06547
|
NM_206933.4(USH2A):c.11231+45C>T
|
rs17025373
|
0.06476
|
NM_206933.4(USH2A):c.1971+198A>G
|
rs17597445
|
0.06401
|
NM_206933.4(USH2A):c.14968+239C>T
|
rs61828161
|
0.06374
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_206933.4(USH2A):c.11390-69C>T
|
rs1433750839
|
0.06133
|
NM_206933.4(USH2A):c.11390-101_11390-95del
|
rs1558078781
|
0.06041
|
NM_206933.4(USH2A):c.2993+146A>G
|
rs111939369
|
0.05978
|
NM_206933.4(USH2A):c.7595-308A>C
|
rs74372467
|
0.05625
|
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp)
|
rs4129843
|
0.05402
|
NM_206933.4(USH2A):c.4885+267G>A
|
rs56158322
|
0.05212
|
NM_206933.4(USH2A):c.652-80T>C
|
rs45594833
|
0.05185
|
NM_206933.4(USH2A):c.14583-359T>C
|
rs6665928
|
0.05170
|
NM_206933.4(USH2A):c.1645-170G>A
|
rs12097757
|
0.05105
|
NM_206933.4(USH2A):c.4627+145T>G
|
rs55761862
|
0.05087
|
NM_206933.4(USH2A):c.5573-1005_5573-1004insG
|
rs200690979
|
0.05077
|
NM_206933.4(USH2A):c.11548+283G>A
|
rs11811012
|
0.05035
|
NM_206933.4(USH2A):c.5573-1003_5573-997del
|
rs375161723
|
0.04988
|
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val)
|
rs1805048
|
0.04940
|
NM_206933.4(USH2A):c.14582+196C>T
|
rs74141284
|
0.04779
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
NM_206933.4(USH2A):c.8681+120G>A
|
rs56301415
|
0.04758
|
NM_206933.4(USH2A):c.15520-194A>T
|
rs75244763
|
0.04699
|
NM_206933.4(USH2A):c.4628-261G>A
|
rs12065013
|
0.04660
|
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=)
|
rs77792891
|
0.04524
|
NM_206933.4(USH2A):c.11712-325T>C
|
rs59307713
|
0.04415
|
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=)
|
rs56053654
|
0.04404
|
NM_206933.4(USH2A):c.11711+245G>T
|
rs956761
|
0.04398
|
NM_206933.4(USH2A):c.11712-104A>T
|
rs58156538
|
0.04393
|
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=)
|
rs61635304
|
0.04389
|
NM_206933.4(USH2A):c.7594+128C>A
|
rs56074952
|
0.04300
|
NM_206933.4(USH2A):c.11231+199G>A
|
rs55908750
|
0.04179
|
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser)
|
rs41277194
|
0.04165
|
NM_206933.4(USH2A):c.6958-132G>A
|
rs12069955
|
0.04149
|
NM_206933.4(USH2A):c.7300+43C>T
|
rs41277206
|
0.04068
|
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr)
|
rs79444516
|
0.04057
|
NM_206933.4(USH2A):c.11390-113_11390-112insA
|
rs1558078850
|
0.04054
|
NM_206933.4(USH2A):c.6325+114G>C
|
rs6693284
|
0.03732
|
NM_206933.4(USH2A):c.5298+188T>G
|
rs3925007
|
0.03704
|
NM_206933.4(USH2A):c.9958+128A>G
|
rs12129576
|
0.03566
|
NM_206933.4(USH2A):c.9958+69C>T
|
rs12132110
|
0.03561
|
NM_206933.4(USH2A):c.9372-196A>T
|
rs12137445
|
0.03559
|
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn)
|
rs11120645
|
0.03545
|
NM_206933.4(USH2A):c.*49A>C
|
rs7531580
|
0.03276
|
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala)
|
rs56032526
|
0.03269
|
NM_206933.4(USH2A):c.9958+4175G>A
|
rs59434539
|
0.03225
|
NM_206933.4(USH2A):c.4627+699C>A
|
rs59704861
|
0.03223
|
NM_206933.4(USH2A):c.849-247T>C
|
rs6679594
|
0.03212
|
NM_206933.4(USH2A):c.14133+234C>G
|
rs79396107
|
0.03167
|
NM_206933.4(USH2A):c.7594+143G>A
|
rs74605223
|
0.03163
|
NM_206933.4(USH2A):c.7594+194G>A
|
rs76798933
|
0.03158
|
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln)
|
rs12118814
|
0.03107
|
NM_206933.4(USH2A):c.6658-273C>T
|
rs75102399
|
0.03028
|
NM_206933.4(USH2A):c.10836C>A (p.Val3612=)
|
rs61276761
|
0.02977
|
NM_206933.4(USH2A):c.5573-1052C>T
|
rs75464348
|
0.02787
|
NM_206933.4(USH2A):c.5858-214C>T
|
rs138682307
|
0.02777
|
NM_206933.4(USH2A):c.5298+82C>A
|
rs80000884
|
0.02649
|
NM_206933.4(USH2A):c.4987+200C>T
|
rs79965279
|
0.02617
|
NM_206933.4(USH2A):c.1550+194_1550+196del
|
rs554937624
|
0.02531
|
NM_206933.4(USH2A):c.9571-216G>A
|
rs78673581
|
0.02511
|
NM_206933.4(USH2A):c.848+274G>T
|
rs10495021
|
0.02463
|
NM_206933.4(USH2A):c.12067-297T>G
|
rs78089712
|
0.02405
|
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)
|
rs111033266
|
0.02380
|
NM_206933.4(USH2A):c.*243G>T
|
rs74400441
|
0.02343
|
NM_206933.4(USH2A):c.11390-103T>C
|
rs1403027349
|
0.02310
|
NM_206933.4(USH2A):c.10939+182G>A
|
rs7513974
|
0.02309
|
NM_206933.4(USH2A):c.12295-128A>T
|
rs78481559
|
0.02278
|
NM_206933.4(USH2A):c.13811+72G>A
|
rs74527030
|
0.02277
|
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=)
|
rs41304083
|
0.02229
|
NM_206933.4(USH2A):c.7300+29A>G
|
rs41277208
|
0.02225
|
NM_206933.4(USH2A):c.15519+23G>A
|
rs115058075
|
0.02194
|
NM_206933.4(USH2A):c.14968+80C>G
|
rs79812583
|
0.02167
|
NM_206933.4(USH2A):c.573A>G (p.Val191=)
|
rs73102592
|
0.02039
|
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His)
|
rs41277210
|
0.02015
|
NM_206933.4(USH2A):c.7595-2389C>T
|
rs72742769
|
0.02010
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01991
|
NM_206933.4(USH2A):c.9958+273G>A
|
rs17025444
|
0.01973
|
NM_206933.4(USH2A):c.9958+162T>C
|
rs17025446
|
0.01971
|
NM_206933.4(USH2A):c.784+162del
|
rs67328101
|
0.01970
|
NM_206933.4(USH2A):c.9740-202T>C
|
rs11120636
|
0.01970
|
NM_206933.4(USH2A):c.4988-287T>A
|
rs113105601
|
0.01921
|
NM_206933.4(USH2A):c.4628-136A>G
|
rs74482152
|
0.01917
|
NM_206933.4(USH2A):c.11390-67C>T
|
rs1280514484
|
0.01910
|
NM_206933.4(USH2A):c.6657+29C>A
|
rs79726287
|
0.01908
|
NM_206933.4(USH2A):c.6657+200G>T
|
rs185960266
|
0.01906
|
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)
|
rs111033381
|
0.01895
|
NM_206933.4(USH2A):c.9571-127G>A
|
rs17025459
|
0.01885
|
NM_206933.4(USH2A):c.4886-234C>T
|
rs76671404
|
0.01874
|
NM_206933.4(USH2A):c.1645-257C>T
|
rs73098672
|
0.01860
|
NM_206933.4(USH2A):c.9739+88C>T
|
rs73090717
|
0.01859
|
NM_206933.4(USH2A):c.8682-53A>G
|
rs115882431
|
0.01767
|
NM_206933.4(USH2A):c.4397-327G>A
|
rs78039241
|
0.01766
|
NM_206933.4(USH2A):c.11390-83T>C
|
rs7551300
|
0.01723
|
NM_206933.4(USH2A):c.6049+37C>T
|
rs17026013
|
0.01707
|
NM_206933.4(USH2A):c.9959-4301T>C
|
rs79312944
|
0.01698
|
NM_206933.4(USH2A):c.5857+17A>C
|
rs74766738
|
0.01694
|
NM_206933.4(USH2A):c.4251+57del
|
rs141989167
|
0.01673
|
NM_206933.4(USH2A):c.6657+100_6657+101insT
|
rs529965408
|
0.01637
|
NM_206933.4(USH2A):c.6805+213T>G
|
rs78547342
|
0.01605
|
NM_206933.4(USH2A):c.1551-233A>C
|
rs114503733
|
0.01577
|
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=)
|
rs111033472
|
0.01557
|
NM_206933.4(USH2A):c.8559-138C>T
|
rs12091017
|
0.01555
|
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)
|
rs45555435
|
0.01476
|
NM_206933.4(USH2A):c.7595-1878A>G
|
rs78611317
|
0.01458
|
NM_206933.4(USH2A):c.1328+52T>C
|
rs115517730
|
0.01450
|
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=)
|
rs56013136
|
0.01440
|
NM_206933.4(USH2A):c.11232-297T>C
|
rs76750166
|
0.01418
|
NM_206933.4(USH2A):c.8681+18A>G
|
rs41277198
|
0.01418
|
NM_206933.4(USH2A):c.1841-170G>T
|
rs114284380
|
0.01393
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01377
|
NM_206933.4(USH2A):c.11390-57C>T
|
rs372668836
|
0.01322
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01316
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_206933.4(USH2A):c.8681+262G>A
|
rs56086749
|
0.01315
|
NM_206933.4(USH2A):c.10741-97G>A
|
rs7514451
|
0.01303
|
NM_206933.4(USH2A):c.5573-1104G>C
|
rs17026038
|
0.01299
|
NM_206933.4(USH2A):c.4396+274C>A
|
rs77109904
|
0.01290
|
NM_206933.4(USH2A):c.11389+313C>T
|
rs376349339
|
0.01289
|
NM_206933.4(USH2A):c.4082-214C>G
|
rs74726533
|
0.01288
|
NM_206933.4(USH2A):c.4627+32G>T
|
rs75662936
|
0.01284
|
NM_206933.4(USH2A):c.6325+203T>G
|
rs115066471
|
0.01212
|
NM_206933.4(USH2A):c.5572+15G>A
|
rs17026052
|
0.01200
|
NM_206933.4(USH2A):c.13984C>G (p.Gln4662Glu)
|
rs41302237
|
0.01191
|
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
NM_206933.4(USH2A):c.3157+214G>A
|
rs75415213
|
0.01176
|
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=)
|
rs41303257
|
0.01136
|
NM_206933.4(USH2A):c.6485+208T>C
|
rs77720728
|
0.01115
|
NM_206933.4(USH2A):c.7301-65C>T
|
rs41277204
|
0.01115
|
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=)
|
rs111033397
|
0.01111
|
NM_206933.4(USH2A):c.3811+154T>C
|
rs112331221
|
0.01106
|
NM_206933.4(USH2A):c.8845+516A>G
|
rs61828252
|
0.01099
|
NM_206933.4(USH2A):c.7121-223G>A
|
rs115852725
|
0.01087
|
NM_206933.4(USH2A):c.9371+296C>T
|
rs17025481
|
0.01036
|
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
NM_206933.4(USH2A):c.9570+230G>T
|
rs115712528
|
0.00987
|
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=)
|
rs111632670
|
0.00984
|
NM_206933.4(USH2A):c.11549-261C>T
|
rs182983768
|
0.00983
|
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=)
|
rs78250390
|
0.00976
|
NM_206933.4(USH2A):c.8682-77A>C
|
rs41277196
|
0.00965
|
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)
|
rs78253373
|
0.00962
|
NM_206933.4(USH2A):c.7595-1963C>T
|
rs114656839
|
0.00962
|
NM_206933.4(USH2A):c.9571-239A>G
|
rs140268814
|
0.00960
|
NM_206933.4(USH2A):c.7594+250G>T
|
rs112614386
|
0.00958
|
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg)
|
rs115884084
|
0.00956
|
NM_206933.4(USH2A):c.6958-292G>A
|
rs9661640
|
0.00953
|
NM_206933.4(USH2A):c.15297+57T>C
|
rs79341918
|
0.00919
|
NM_206933.4(USH2A):c.1143+284G>A
|
rs145924232
|
0.00910
|
NM_206933.4(USH2A):c.6164-42A>C
|
rs148841142
|
0.00896
|
NM_206933.4(USH2A):c.14343+259G>C
|
rs116115745
|
0.00874
|
NM_206933.4(USH2A):c.6657+102T>C
|
rs145795785
|
0.00873
|
NM_206933.4(USH2A):c.14583-335A>C
|
rs61522423
|
0.00868
|
NM_206933.4(USH2A):c.11711+191A>T
|
rs114055553
|
0.00857
|
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp)
|
rs113447586
|
0.00830
|
NM_206933.4(USH2A):c.4397-92A>G
|
rs12119519
|
0.00823
|
NM_206933.4(USH2A):c.1971+85G>A
|
rs12123574
|
0.00811
|
NM_206933.4(USH2A):c.7300+263A>C
|
rs115727228
|
0.00810
|
NM_206933.4(USH2A):c.2993+104C>T
|
rs113353271
|
0.00807
|
NM_206933.4(USH2A):c.7452-189G>A
|
rs56167211
|
0.00801
|
NM_206933.4(USH2A):c.1971+274G>A
|
rs56376053
|
0.00799
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_206933.4(USH2A):c.14134-53T>C
|
rs868490203
|
0.00765
|
NM_206933.4(USH2A):c.8558+40C>A
|
rs55713064
|
0.00762
|
NM_206933.4(USH2A):c.11048-15C>T
|
rs74141403
|
0.00740
|
NM_206933.4(USH2A):c.9959-11T>G
|
rs116150014
|
0.00724
|
NM_206933.4(USH2A):c.7120+224T>C
|
rs73092455
|
0.00714
|
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile)
|
rs75397806
|
0.00696
|
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=)
|
rs6660707
|
0.00683
|
NM_206933.4(USH2A):c.6050-213T>C
|
rs112630531
|
0.00678
|
NM_206933.4(USH2A):c.4396+120A>G
|
rs140665655
|
0.00662
|
NM_206933.4(USH2A):c.4988-267G>A
|
rs116085130
|
0.00658
|
NM_206933.4(USH2A):c.848+5G>C
|
rs74329863
|
0.00641
|
NM_206933.4(USH2A):c.12066+4409C>G
|
rs115494070
|
0.00638
|
NM_206933.4(USH2A):c.2168-61T>C
|
rs151090974
|
0.00637
|
NM_206933.4(USH2A):c.6049+76A>T
|
rs55865063
|
0.00630
|
NM_206933.4(USH2A):c.7120+210T>C
|
rs111727548
|
0.00630
|
NM_206933.4(USH2A):c.651+287G>A
|
rs116094580
|
0.00612
|
NM_206933.4(USH2A):c.10940-64G>A
|
rs75598330
|
0.00610
|
NM_206933.4(USH2A):c.6486-92C>A
|
rs115919961
|
0.00606
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
NM_206933.4(USH2A):c.10585+212T>C
|
rs114857488
|
0.00604
|
NM_206933.4(USH2A):c.12294+184T>A
|
rs140857296
|
0.00600
|
NM_206933.4(USH2A):c.1551-269A>G
|
rs116548223
|
0.00591
|
NM_206933.4(USH2A):c.9371+261C>T
|
rs115177714
|
0.00590
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_206933.4(USH2A):c.12067-273C>T
|
rs113773419
|
0.00585
|
NM_206933.4(USH2A):c.4081+257A>T
|
rs139323633
|
0.00566
|
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=)
|
rs78576418
|
0.00545
|
NM_206933.4(USH2A):c.11549-44C>T
|
rs140627449
|
0.00542
|
NM_206933.4(USH2A):c.78T>C (p.Ala26=)
|
rs59139861
|
0.00539
|
NM_206933.4(USH2A):c.-204-222T>G
|
rs116065997
|
0.00538
|
NM_206933.4(USH2A):c.651+31G>A
|
rs114613023
|
0.00537
|
NM_206933.4(USH2A):c.4988-243C>G
|
rs150993153
|
0.00531
|
NM_206933.4(USH2A):c.11389+145A>G
|
rs187394445
|
0.00523
|
NM_206933.4(USH2A):c.4627+641G>A
|
rs146153666
|
0.00523
|
NM_206933.4(USH2A):c.9959-226C>T
|
rs114814321
|
0.00514
|
NM_206933.4(USH2A):c.4758+192G>A
|
rs138269135
|
0.00508
|
NM_206933.4(USH2A):c.9056-52G>T
|
rs150579700
|
0.00507
|
NM_206933.4(USH2A):c.14583-110T>C
|
rs182641567
|
0.00495
|
NM_206933.4(USH2A):c.651+72G>A
|
rs145420780
|
0.00491
|
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=)
|
rs12073994
|
0.00488
|
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=)
|
rs111033378
|
0.00488
|
NM_206933.4(USH2A):c.14792-190C>T
|
rs55904266
|
0.00483
|
NM_206933.4(USH2A):c.5517G>A (p.Val1839=)
|
rs111033421
|
0.00479
|
NM_206933.4(USH2A):c.3157+158G>A
|
rs114328607
|
0.00470
|
NM_206933.4(USH2A):c.9740-222G>A
|
rs186369307
|
0.00469
|
NM_206933.4(USH2A):c.10940-235A>G
|
rs139225837
|
0.00451
|
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr)
|
rs115015305
|
0.00441
|
NM_206933.4(USH2A):c.10585+152C>T
|
rs116377228
|
0.00438
|
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg)
|
rs115039883
|
0.00438
|
NM_206933.4(USH2A):c.4397-94A>G
|
rs150518677
|
0.00437
|
NM_206933.4(USH2A):c.6805+313T>C
|
rs116280453
|
0.00430
|
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)
|
rs73090721
|
0.00422
|
NM_206933.4(USH2A):c.12066+186A>G
|
rs112270444
|
0.00419
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
NM_206933.4(USH2A):c.8681+118A>G
|
rs150263560
|
0.00419
|
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=)
|
rs111033505
|
0.00418
|
NM_206933.4(USH2A):c.4886-95G>A
|
rs146923644
|
0.00416
|
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=)
|
rs56245532
|
0.00414
|
NM_206933.4(USH2A):c.9740-59G>A
|
rs115806383
|
0.00412
|
NM_206933.4(USH2A):c.8681+63C>T
|
rs76991058
|
0.00409
|
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His)
|
rs79654794
|
0.00408
|
NM_206933.4(USH2A):c.8937A>G (p.Val2979=)
|
rs139100097
|
0.00404
|
NM_206933.4(USH2A):c.9056-222C>T
|
rs112285425
|
0.00401
|
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile)
|
rs59174500
|
0.00394
|
NM_206933.4(USH2A):c.10939+44C>T
|
rs56147129
|
0.00393
|
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=)
|
rs56829872
|
0.00393
|
NM_206933.4(USH2A):c.15053-27T>G
|
rs73087446
|
0.00390
|
NM_206933.4(USH2A):c.486-13G>A
|
rs116367260
|
0.00385
|
NM_206933.4(USH2A):c.5857+116A>G
|
rs59939306
|
0.00384
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
NM_206933.4(USH2A):c.6050-114G>A
|
rs114614919
|
0.00375
|
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn)
|
rs149202379
|
0.00369
|
NM_206933.4(USH2A):c.14968+56C>T
|
rs56957283
|
0.00359
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)
|
rs77211159
|
0.00354
|
NM_206933.4(USH2A):c.4252-309G>A
|
rs114272152
|
0.00349
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
NM_206933.4(USH2A):c.14344-270A>G
|
rs79239248
|
0.00344
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_206933.4(USH2A):c.4759-134T>C
|
rs141941483
|
0.00343
|
NM_206933.4(USH2A):c.14343+71A>G
|
rs181666063
|
0.00342
|
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe)
|
rs149222801
|
0.00339
|
NM_206933.4(USH2A):c.14133+131T>C
|
rs114165318
|
0.00332
|
NM_206933.4(USH2A):c.15297+3A>G
|
rs57754754
|
0.00327
|
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala)
|
rs141671082
|
0.00327
|
NM_206933.4(USH2A):c.11048-262A>C
|
rs113679327
|
0.00316
|
NM_206933.4(USH2A):c.9372-131G>T
|
rs143547926
|
0.00314
|
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)
|
rs55921307
|
0.00295
|
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=)
|
rs137902779
|
0.00293
|
NM_206933.4(USH2A):c.14134-41G>C
|
rs148860853
|
0.00280
|
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)
|
rs145207584
|
0.00275
|
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr)
|
rs147883884
|
0.00275
|
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr)
|
rs147039836
|
0.00260
|
NM_206933.4(USH2A):c.10182+21C>T
|
rs115766013
|
0.00259
|
NM_206933.4(USH2A):c.14344-39T>C
|
rs74850571
|
0.00257
|
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys)
|
rs147900972
|
0.00249
|
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg)
|
rs148556640
|
0.00247
|
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln)
|
rs150264392
|
0.00246
|
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)
|
rs146994147
|
0.00245
|
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)
|
rs111033479
|
0.00240
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His)
|
rs143624066
|
0.00217
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val)
|
rs111033498
|
0.00214
|
NM_206933.4(USH2A):c.7121-23T>G
|
rs111736192
|
0.00211
|
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
NM_206933.4(USH2A):c.879T>G (p.Leu293=)
|
rs3767698
|
0.00201
|
NM_206933.4(USH2A):c.784+22G>T
|
rs113005314
|
0.00194
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)
|
rs112120466
|
0.00159
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00158
|
NM_206933.4(USH2A):c.15053-18T>G
|
rs138178390
|
0.00155
|
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala)
|
rs148135241
|
0.00152
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=)
|
rs114719960
|
0.00141
|
NM_206933.4(USH2A):c.14583-39A>G
|
rs376014627
|
0.00137
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_206933.4(USH2A):c.2167+17A>G
|
rs181777364
|
0.00129
|
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile)
|
rs150807452
|
0.00126
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)
|
rs143218330
|
0.00118
|
NM_206933.4(USH2A):c.6486-18G>A
|
rs370809079
|
0.00118
|
NM_206933.4(USH2A):c.2094C>T (p.Thr698=)
|
rs141489104
|
0.00112
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_206933.4(USH2A):c.14791+711C>T
|
rs377413071
|
0.00103
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00099
|
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)
|
rs146892520
|
0.00098
|
NM_206933.4(USH2A):c.3158-7A>G
|
rs201558076
|
0.00097
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_206933.4(USH2A):c.3157+12C>T
|
rs199853422
|
0.00088
|
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)
|
rs192115090
|
0.00086
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00085
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=)
|
rs150286388
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)
|
rs111033450
|
0.00076
|
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met)
|
rs138803855
|
0.00075
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_206933.4(USH2A):c.14583-19G>A
|
rs55647345
|
0.00072
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_206933.4(USH2A):c.5409C>G (p.Val1803=)
|
rs140326085
|
0.00070
|
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)
|
rs147371835
|
0.00069
|
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=)
|
rs149776188
|
0.00068
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_206933.4(USH2A):c.14322C>T (p.Ser4774=)
|
rs147037435
|
0.00067
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)
|
rs139921272
|
0.00065
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=)
|
rs143546878
|
0.00064
|
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)
|
rs111033333
|
0.00063
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)
|
rs148504065
|
0.00061
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_206933.4(USH2A):c.14804G>A (p.Arg4935Gln)
|
rs141126974
|
0.00058
|
NM_206933.4(USH2A):c.485+12T>C
|
rs201857884
|
0.00058
|
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=)
|
rs149570469
|
0.00057
|
NM_206933.4(USH2A):c.6989A>G (p.Glu2330Gly)
|
rs138992047
|
0.00057
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)
|
rs1321779316
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_206933.4(USH2A):c.11549-4C>T
|
rs766933199
|
0.00055
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)
|
rs150532013
|
0.00054
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_206933.4(USH2A):c.3581C>T (p.Pro1194Leu)
|
rs145114751
|
0.00052
|
NM_206933.4(USH2A):c.10741-8G>A
|
rs369968349
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_206933.4(USH2A):c.785-16_785-15del
|
rs150209313
|
0.00051
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu)
|
rs145468090
|
0.00050
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_206933.4(USH2A):c.8805C>T (p.Val2935=)
|
rs111033534
|
0.00049
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)
|
rs146445078
|
0.00047
|
NM_206933.4(USH2A):c.9258+15T>C
|
rs181894778
|
0.00047
|
NM_206933.4(USH2A):c.10609C>T (p.Leu3537Phe)
|
rs138656755
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val)
|
rs137868043
|
0.00045
|
NM_206933.4(USH2A):c.2167+18G>A
|
rs375510766
|
0.00045
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_206933.4(USH2A):c.10470G>T (p.Val3490=)
|
rs201401001
|
0.00041
|
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)
|
rs201071654
|
0.00040
|
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)
|
rs112273610
|
0.00039
|
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)
|
rs146406377
|
0.00038
|
NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=)
|
rs145742052
|
0.00036
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser)
|
rs200496467
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00033
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys)
|
rs147023536
|
0.00031
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
NM_206933.4(USH2A):c.9495T>C (p.Asp3165=)
|
rs41305094
|
0.00030
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
0.00029
|
NM_206933.4(USH2A):c.2167+11C>T
|
rs139647897
|
0.00029
|
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)
|
rs146372677
|
0.00029
|
NM_206933.4(USH2A):c.5131G>A (p.Ala1711Thr)
|
rs535796173
|
0.00028
|
NM_206933.4(USH2A):c.7311C>T (p.Gly2437=)
|
rs552327619
|
0.00028
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)
|
rs138640647
|
0.00027
|
NM_206933.4(USH2A):c.7416G>A (p.Gln2472=)
|
rs145783712
|
0.00027
|
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)
|
rs111033262
|
0.00027
|
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=)
|
rs137963595
|
0.00026
|
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)
|
rs138326802
|
0.00026
|
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
|
rs570277510
|
0.00026
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)
|
rs150280500
|
0.00026
|
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys)
|
rs141539554
|
0.00026
|
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=)
|
rs200243588
|
0.00026
|
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly)
|
rs146569216
|
0.00025
|
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
|
rs200981928
|
0.00025
|
NM_206933.4(USH2A):c.12315C>T (p.Asp4105=)
|
rs755072275
|
0.00024
|
NM_206933.4(USH2A):c.13563T>C (p.Pro4521=)
|
rs139701970
|
0.00024
|
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr)
|
rs200949691
|
0.00024
|
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=)
|
rs397518016
|
0.00024
|
NM_206933.4(USH2A):c.9867C>T (p.Gly3289=)
|
rs145814426
|
0.00024
|
NM_206933.4(USH2A):c.13099G>A (p.Val4367Ile)
|
rs146156360
|
0.00023
|
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe)
|
rs375083165
|
0.00023
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_206933.4(USH2A):c.10387+15G>A
|
rs190043418
|
0.00022
|
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)
|
rs147374057
|
0.00022
|
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys)
|
rs140983855
|
0.00022
|
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)
|
rs200802261
|
0.00022
|
NM_206933.4(USH2A):c.1550+10T>C
|
rs200728788
|
0.00021
|
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)
|
rs201710470
|
0.00021
|
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)
|
rs147930567
|
0.00021
|
NM_206933.4(USH2A):c.6325+13G>A
|
rs368490585
|
0.00021
|
NM_206933.4(USH2A):c.7491G>T (p.Val2497=)
|
rs142143100
|
0.00021
|
NM_206933.4(USH2A):c.10062G>C (p.Val3354=)
|
rs200172376
|
0.00020
|
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala)
|
rs200372118
|
0.00020
|
NM_206933.4(USH2A):c.15053-4G>T
|
rs753732714
|
0.00020
|
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)
|
rs144817385
|
0.00020
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His)
|
rs189729452
|
0.00019
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_206933.4(USH2A):c.5266G>A (p.Val1756Ile)
|
rs143208990
|
0.00019
|
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp)
|
rs144768593
|
0.00019
|
NM_206933.4(USH2A):c.5619C>T (p.Val1873=)
|
rs138416665
|
0.00019
|
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
NM_206933.4(USH2A):c.921C>T (p.Ser307=)
|
rs750137819
|
0.00019
|
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)
|
rs147532612
|
0.00018
|
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe)
|
rs368058316
|
0.00018
|
NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn)
|
rs144892841
|
0.00018
|
NM_206933.4(USH2A):c.3317-8C>T
|
rs886044611
|
0.00017
|
NM_206933.4(USH2A):c.10183-20A>C
|
rs938186162
|
0.00016
|
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)
|
rs142617606
|
0.00016
|
NM_206933.4(USH2A):c.1184C>T (p.Thr395Met)
|
rs146584890
|
0.00016
|
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)
|
rs150406015
|
0.00016
|
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=)
|
rs200247886
|
0.00016
|
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr)
|
rs577389392
|
0.00016
|
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr)
|
rs149813671
|
0.00016
|
NM_206933.4(USH2A):c.9604C>G (p.Pro3202Ala)
|
rs113786363
|
0.00016
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro)
|
rs145114473
|
0.00015
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00015
|
NM_206933.4(USH2A):c.4396+19A>G
|
rs200067924
|
0.00015
|
NM_206933.4(USH2A):c.5299-10T>C
|
rs375279569
|
0.00015
|
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln)
|
rs541275063
|
0.00015
|
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala)
|
rs138574386
|
0.00015
|
NM_206933.4(USH2A):c.11048-14G>A
|
rs373194647
|
0.00014
|
NM_206933.4(USH2A):c.12621C>T (p.Ala4207=)
|
rs369544099
|
0.00014
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
0.00014
|
NM_206933.4(USH2A):c.127G>A (p.Val43Met)
|
rs147421006
|
0.00014
|
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys)
|
rs144543286
|
0.00014
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
0.00014
|
NM_206933.4(USH2A):c.15090G>A (p.Ser5030=)
|
rs397517997
|
0.00014
|
NM_206933.4(USH2A):c.1581C>T (p.Cys527=)
|
rs140331348
|
0.00014
|
NM_206933.4(USH2A):c.1608C>T (p.Cys536=)
|
rs187380128
|
0.00014
|
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
|
rs373190681
|
0.00014
|
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys)
|
rs200289497
|
0.00014
|
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
|
rs143319658
|
0.00014
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser)
|
rs148136966
|
0.00014
|
NM_206933.4(USH2A):c.9056-17T>A
|
rs369744333
|
0.00014
|
NM_206933.4(USH2A):c.9536T>C (p.Ile3179Thr)
|
rs752009808
|
0.00014
|
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
|
rs141452179
|
0.00014
|
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr)
|
rs146980351
|
0.00013
|
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=)
|
rs148975669
|
0.00013
|
NM_206933.4(USH2A):c.15117C>T (p.Ser5039=)
|
rs148499621
|
0.00013
|
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val)
|
rs201808654
|
0.00013
|
NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn)
|
rs756423843
|
0.00013
|
NM_206933.4(USH2A):c.4627+7985C>T
|
rs563981453
|
0.00013
|
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)
|
rs376314751
|
0.00013
|
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr)
|
rs144112891
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met)
|
rs370988961
|
0.00013
|
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=)
|
rs368327746
|
0.00013
|
NM_206933.4(USH2A):c.9056-4C>T
|
rs375239189
|
0.00013
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_206933.4(USH2A):c.1623G>A (p.Glu541=)
|
rs146805130
|
0.00012
|
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly)
|
rs77797012
|
0.00012
|
NM_206933.4(USH2A):c.4602T>G (p.Thr1534=)
|
rs777378521
|
0.00012
|
NM_206933.4(USH2A):c.6325+20C>T
|
rs374534815
|
0.00012
|
NM_206933.4(USH2A):c.6387A>G (p.Thr2129=)
|
rs150282853
|
0.00012
|
NM_206933.4(USH2A):c.6801G>A (p.Pro2267=)
|
rs375235470
|
0.00012
|
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val)
|
rs143523460
|
0.00012
|
NM_206933.4(USH2A):c.8457C>T (p.Thr2819=)
|
rs369778429
|
0.00012
|
NM_206933.4(USH2A):c.9813G>A (p.Met3271Ile)
|
rs137876918
|
0.00012
|
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=)
|
rs147842359
|
0.00011
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
0.00011
|
NM_206933.4(USH2A):c.10896C>T (p.Leu3632=)
|
rs200287425
|
0.00011
|
NM_206933.4(USH2A):c.12392C>T (p.Thr4131Ile)
|
rs149647002
|
0.00011
|
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)
|
rs138879998
|
0.00011
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
NM_206933.4(USH2A):c.14680G>A (p.Ala4894Thr)
|
rs369778428
|
0.00011
|
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln)
|
rs369806765
|
0.00011
|
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690
|
0.00011
|
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu)
|
rs141339026
|
0.00011
|
NM_206933.4(USH2A):c.4646G>A (p.Arg1549Gln)
|
rs190170807
|
0.00011
|
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys)
|
rs148049006
|
0.00011
|
NM_206933.4(USH2A):c.6049+20A>G
|
rs377299006
|
0.00011
|
NM_206933.4(USH2A):c.8179G>T (p.Val2727Leu)
|
rs145399306
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=)
|
rs188093326
|
0.00011
|
NM_206933.4(USH2A):c.10585+4T>G
|
rs372667667
|
0.00010
|
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser)
|
rs371987720
|
0.00010
|
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=)
|
rs141528682
|
0.00010
|
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser)
|
rs143898511
|
0.00010
|
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met)
|
rs200570742
|
0.00010
|
NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser)
|
rs139799843
|
0.00010
|
NM_206933.4(USH2A):c.14892C>T (p.Tyr4964=)
|
rs149877542
|
0.00010
|
NM_206933.4(USH2A):c.15171T>C (p.Ile5057=)
|
rs576344509
|
0.00010
|
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)
|
rs149506333
|
0.00010
|
NM_206933.4(USH2A):c.1674C>T (p.Asp558=)
|
rs778757759
|
0.00010
|
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)
|
rs727503735
|
0.00010
|
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe)
|
rs145148501
|
0.00010
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
NM_206933.4(USH2A):c.6958-5C>T
|
rs147914083
|
0.00010
|
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His)
|
rs368681648
|
0.00010
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
NM_206933.4(USH2A):c.7936C>A (p.Pro2646Thr)
|
rs760777446
|
0.00010
|
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=)
|
rs200525258
|
0.00010
|
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)
|
rs727504307
|
0.00009
|
NM_206933.4(USH2A):c.11013T>G (p.Pro3671=)
|
rs777699434
|
0.00009
|
NM_206933.4(USH2A):c.11062C>T (p.Pro3688Ser)
|
rs147214756
|
0.00009
|
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr)
|
rs372327495
|
0.00009
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=)
|
rs369335995
|
0.00009
|
NM_206933.4(USH2A):c.12818A>G (p.Tyr4273Cys)
|
rs777874309
|
0.00009
|
NM_206933.4(USH2A):c.1297C>T (p.Pro433Ser)
|
rs139556361
|
0.00009
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)
|
rs764124390
|
0.00009
|
NM_206933.4(USH2A):c.15297+14G>A
|
rs774899135
|
0.00009
|
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu)
|
rs140955723
|
0.00009
|
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg)
|
rs367693972
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_206933.4(USH2A):c.3177G>A (p.Pro1059=)
|
rs767648070
|
0.00009
|
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser)
|
rs139089840
|
0.00009
|
NM_206933.4(USH2A):c.4397-1G>A
|
rs199982344
|
0.00009
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
NM_206933.4(USH2A):c.4627+17T>C
|
rs144503960
|
0.00009
|
NM_206933.4(USH2A):c.5367A>G (p.Leu1789=)
|
rs138064171
|
0.00009
|
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=)
|
rs768759268
|
0.00009
|
NM_206933.4(USH2A):c.671G>C (p.Ser224Thr)
|
rs142234324
|
0.00009
|
NM_206933.4(USH2A):c.7719T>C (p.Arg2573=)
|
rs143683292
|
0.00009
|
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln)
|
rs780020144
|
0.00009
|
NM_206933.4(USH2A):c.9439T>C (p.Trp3147Arg)
|
rs139649540
|
0.00009
|
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His)
|
rs200726531
|
0.00009
|
NM_206933.4(USH2A):c.9639G>A (p.Pro3213=)
|
rs191115495
|
0.00009
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.10003A>C (p.Ile3335Leu)
|
rs759393994
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys)
|
rs140548353
|
0.00008
|
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=)
|
rs144655434
|
0.00008
|
NM_206933.4(USH2A):c.11859T>C (p.Ser3953=)
|
rs141941454
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_206933.4(USH2A):c.13406A>G (p.Asn4469Ser)
|
rs796610671
|
0.00008
|
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)
|
rs372966682
|
0.00008
|
NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser)
|
rs200761611
|
0.00008
|
NM_206933.4(USH2A):c.15053-6T>C
|
rs778356580
|
0.00008
|
NM_206933.4(USH2A):c.1668T>C (p.Tyr556=)
|
rs895470032
|
0.00008
|
NM_206933.4(USH2A):c.3429A>G (p.Thr1143=)
|
rs531289860
|
0.00008
|
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)
|
rs537863698
|
0.00008
|
NM_206933.4(USH2A):c.4850C>T (p.Ala1617Val)
|
rs868179223
|
0.00008
|
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys)
|
rs371201450
|
0.00008
|
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg)
|
rs376983577
|
0.00008
|
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)
|
rs371685066
|
0.00008
|
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln)
|
rs748137104
|
0.00008
|
NM_206933.4(USH2A):c.9772C>T (p.Arg3258Trp)
|
rs750218932
|
0.00008
|
NM_206933.4(USH2A):c.1158C>A (p.Ile386=)
|
rs1037072307
|
0.00007
|
NM_206933.4(USH2A):c.1205A>G (p.Lys402Arg)
|
rs768097637
|
0.00007
|
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln)
|
rs201630132
|
0.00007
|
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg)
|
rs199672621
|
0.00007
|
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn)
|
rs778199517
|
0.00007
|
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)
|
rs142302070
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=)
|
rs750789180
|
0.00007
|
NM_206933.4(USH2A):c.4227G>A (p.Gln1409=)
|
rs377203802
|
0.00007
|
NM_206933.4(USH2A):c.5061T>C (p.Ile1687=)
|
rs144857806
|
0.00007
|
NM_206933.4(USH2A):c.5577C>T (p.Phe1859=)
|
rs764839361
|
0.00007
|
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His)
|
rs140845899
|
0.00007
|
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=)
|
rs777803742
|
0.00007
|
NM_206933.4(USH2A):c.8137G>T (p.Ala2713Ser)
|
rs199934541
|
0.00007
|
NM_206933.4(USH2A):c.8681+14A>G
|
rs576328957
|
0.00007
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp)
|
rs150617613
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly)
|
rs146014881
|
0.00006
|
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln)
|
rs771999994
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.10932G>A (p.Thr3644=)
|
rs139989739
|
0.00006
|
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)
|
rs150822759
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.11230A>G (p.Arg3744Gly)
|
rs1426369789
|
0.00006
|
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr)
|
rs183979371
|
0.00006
|
NM_206933.4(USH2A):c.1143+12C>T
|
rs727505167
|
0.00006
|
NM_206933.4(USH2A):c.11548+11T>G
|
rs190536383
|
0.00006
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
0.00006
|
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys)
|
rs727503718
|
0.00006
|
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=)
|
rs202172029
|
0.00006
|
NM_206933.4(USH2A):c.12624C>T (p.Asp4208=)
|
rs375223901
|
0.00006
|
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)
|
rs150900847
|
0.00006
|
NM_206933.4(USH2A):c.12768G>A (p.Val4256=)
|
rs1248123238
|
0.00006
|
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly)
|
rs753823008
|
0.00006
|
NM_206933.4(USH2A):c.13490T>A (p.Phe4497Tyr)
|
rs145719886
|
0.00006
|
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)
|
rs148674752
|
0.00006
|
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_206933.4(USH2A):c.14344-19G>A
|
rs372191053
|
0.00006
|
NM_206933.4(USH2A):c.14380G>A (p.Gly4794Ser)
|
rs138488003
|
0.00006
|
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile)
|
rs138694314
|
0.00006
|
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)
|
rs370127889
|
0.00006
|
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=)
|
rs139847770
|
0.00006
|
NM_206933.4(USH2A):c.14582+15A>G
|
rs376687557
|
0.00006
|
NM_206933.4(USH2A):c.14598C>T (p.Phe4866=)
|
rs775300341
|
0.00006
|
NM_206933.4(USH2A):c.14703C>T (p.Pro4901=)
|
rs377505152
|
0.00006
|
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met)
|
rs375429745
|
0.00006
|
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp)
|
rs767137840
|
0.00006
|
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)
|
rs111033419
|
0.00006
|
NM_206933.4(USH2A):c.1550+16T>C
|
rs559791157
|
0.00006
|
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
|
rs567937233
|
0.00006
|
NM_206933.4(USH2A):c.1A>G (p.Met1Val)
|
rs924627806
|
0.00006
|
NM_206933.4(USH2A):c.2167+12G>A
|
rs768394835
|
0.00006
|
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val)
|
rs727503732
|
0.00006
|
NM_206933.4(USH2A):c.4081+7A>T
|
rs771461091
|
0.00006
|
NM_206933.4(USH2A):c.4886-12C>T
|
rs199823130
|
0.00006
|
NM_206933.4(USH2A):c.5104G>A (p.Val1702Met)
|
rs201799575
|
0.00006
|
NM_206933.4(USH2A):c.5496G>A (p.Val1832=)
|
rs146585940
|
0.00006
|
NM_206933.4(USH2A):c.5739G>A (p.Glu1913=)
|
rs41277216
|
0.00006
|
NM_206933.4(USH2A):c.5789G>A (p.Arg1930Gln)
|
rs200348779
|
0.00006
|
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val)
|
rs773405046
|
0.00006
|
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser)
|
rs756041909
|
0.00006
|
NM_206933.4(USH2A):c.60G>T (p.Leu20Phe)
|
rs767611127
|
0.00006
|
NM_206933.4(USH2A):c.6279T>C (p.Asp2093=)
|
rs200876799
|
0.00006
|
NM_206933.4(USH2A):c.6344C>T (p.Pro2115Leu)
|
rs373034742
|
0.00006
|
NM_206933.4(USH2A):c.6563C>A (p.Thr2188Lys)
|
rs374409616
|
0.00006
|
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys)
|
rs375278546
|
0.00006
|
NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=)
|
rs147615382
|
0.00006
|
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=)
|
rs141917231
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu)
|
rs147333637
|
0.00006
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
|
rs754774098
|
0.00006
|
NM_206933.4(USH2A):c.8846-7T>C
|
rs769662049
|
0.00006
|
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His)
|
rs199885325
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_206933.4(USH2A):c.9816G>A (p.Pro3272=)
|
rs745566865
|
0.00006
|
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
|
rs200696560
|
0.00006
|
NM_206933.4(USH2A):c.10426A>C (p.Ile3476Leu)
|
rs1038876830
|
0.00005
|
NM_206933.4(USH2A):c.10487A>C (p.Glu3496Ala)
|
rs142594852
|
0.00005
|
NM_206933.4(USH2A):c.11390-10C>T
|
rs750110818
|
0.00005
|
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly)
|
rs149527139
|
0.00005
|
NM_206933.4(USH2A):c.11821C>T (p.Arg3941Trp)
|
rs749942414
|
0.00005
|
NM_206933.4(USH2A):c.12702G>A (p.Thr4234=)
|
rs878928366
|
0.00005
|
NM_206933.4(USH2A):c.1346G>A (p.Arg449His)
|
rs766715882
|
0.00005
|
NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg)
|
rs201864716
|
0.00005
|
NM_206933.4(USH2A):c.13811+18G>A
|
rs375499179
|
0.00005
|
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=)
|
rs370364142
|
0.00005
|
NM_206933.4(USH2A):c.14292C>T (p.Ile4764=)
|
rs751883676
|
0.00005
|
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)
|
rs534656527
|
0.00005
|
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)
|
rs184351619
|
0.00005
|
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)
|
rs201847741
|
0.00005
|
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00005
|
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=)
|
rs778669346
|
0.00005
|
NM_206933.4(USH2A):c.14904C>T (p.Asp4968=)
|
rs151165599
|
0.00005
|
NM_206933.4(USH2A):c.15249G>C (p.Gln5083His)
|
rs768977235
|
0.00005
|
NM_206933.4(USH2A):c.1731C>T (p.Cys577=)
|
rs41313732
|
0.00005
|
NM_206933.4(USH2A):c.1816G>C (p.Asp606His)
|
rs111033410
|
0.00005
|
NM_206933.4(USH2A):c.2091T>C (p.Asn697=)
|
rs1004030005
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
NM_206933.4(USH2A):c.4251+9A>G
|
rs377683273
|
0.00005
|
NM_206933.4(USH2A):c.4396+9G>T
|
rs376159076
|
0.00005
|
NM_206933.4(USH2A):c.4627+10T>C
|
rs148657311
|
0.00005
|
NM_206933.4(USH2A):c.5103C>T (p.Asn1701=)
|
rs750028425
|
0.00005
|
NM_206933.4(USH2A):c.6175G>T (p.Val2059Phe)
|
rs767444125
|
0.00005
|
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)
|
rs201281141
|
0.00005
|
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His)
|
rs777618162
|
0.00005
|
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp)
|
rs568902534
|
0.00005
|
NM_206933.4(USH2A):c.8631C>G (p.His2877Gln)
|
rs954532372
|
0.00005
|
NM_206933.4(USH2A):c.8682-20T>C
|
rs970135337
|
0.00005
|
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile)
|
rs142649882
|
0.00005
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
NM_206933.4(USH2A):c.9201T>C (p.Asn3067=)
|
rs764236480
|
0.00005
|
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met)
|
rs147267500
|
0.00005
|
NM_206933.4(USH2A):c.9372-8T>C
|
rs200863969
|
0.00005
|
NM_206933.4(USH2A):c.9460G>A (p.Ala3154Thr)
|
rs150266899
|
0.00005
|
NM_206933.4(USH2A):c.10116T>A (p.Asn3372Lys)
|
rs202172477
|
0.00004
|
NM_206933.4(USH2A):c.10183-16C>T
|
rs757376043
|
0.00004
|
NM_206933.4(USH2A):c.10741-9C>T
|
rs373853661
|
0.00004
|
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)
|
rs727505166
|
0.00004
|
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met)
|
rs185823130
|
0.00004
|
NM_206933.4(USH2A):c.10941T>C (p.Gly3647=)
|
rs563945220
|
0.00004
|
NM_206933.4(USH2A):c.11121G>T (p.Lys3707Asn)
|
rs111033515
|
0.00004
|
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
|
rs201951918
|
0.00004
|
NM_206933.4(USH2A):c.11232-4A>G
|
rs957960601
|
0.00004
|
NM_206933.4(USH2A):c.11390-14C>A
|
rs780189196
|
0.00004
|
NM_206933.4(USH2A):c.11435A>G (p.Asn3812Ser)
|
rs776876392
|
0.00004
|
NM_206933.4(USH2A):c.11711+11C>G
|
rs898593481
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00004
|
NM_206933.4(USH2A):c.12333T>C (p.Ser4111=)
|
rs1008218297
|
0.00004
|
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)
|
rs775075094
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.126C>T (p.Asn42=)
|
rs774473277
|
0.00004
|
NM_206933.4(USH2A):c.12895A>C (p.Arg4299=)
|
rs1197075904
|
0.00004
|
NM_206933.4(USH2A):c.13159A>G (p.Thr4387Ala)
|
rs755416914
|
0.00004
|
NM_206933.4(USH2A):c.13221G>A (p.Leu4407=)
|
rs771196547
|
0.00004
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)
|
rs550096037
|
0.00004
|
NM_206933.4(USH2A):c.13811+7A>G
|
rs750981799
|
0.00004
|
NM_206933.4(USH2A):c.13812-5T>C
|
rs371583628
|
0.00004
|
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys)
|
rs139997881
|
0.00004
|
NM_206933.4(USH2A):c.13939G>C (p.Gly4647Arg)
|
rs144524302
|
0.00004
|
NM_206933.4(USH2A):c.14134-18G>T
|
rs746718639
|
0.00004
|
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=)
|
rs200934092
|
0.00004
|
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
NM_206933.4(USH2A):c.14532G>A (p.Thr4844=)
|
rs150350278
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser)
|
rs200993435
|
0.00004
|
NM_206933.4(USH2A):c.14761G>A (p.Glu4921Lys)
|
rs754834155
|
0.00004
|
NM_206933.4(USH2A):c.14871G>C (p.Leu4957=)
|
rs748007443
|
0.00004
|
NM_206933.4(USH2A):c.14925C>T (p.Ser4975=)
|
rs1158136623
|
0.00004
|
NM_206933.4(USH2A):c.14961G>A (p.Ala4987=)
|
rs568581229
|
0.00004
|
NM_206933.4(USH2A):c.14994G>A (p.Thr4998=)
|
rs146325401
|
0.00004
|
NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu)
|
rs758660532
|
0.00004
|
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)
|
rs727503714
|
0.00004
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val)
|
rs753175395
|
0.00004
|
NM_206933.4(USH2A):c.15369C>T (p.Val5123=)
|
rs142939648
|
0.00004
|
NM_206933.4(USH2A):c.15432C>T (p.Ser5144=)
|
rs145362017
|
0.00004
|
NM_206933.4(USH2A):c.15564C>T (p.Ser5188=)
|
rs374661521
|
0.00004
|
NM_206933.4(USH2A):c.1573G>A (p.Asp525Asn)
|
rs375741757
|
0.00004
|
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)
|
rs766038321
|
0.00004
|
NM_206933.4(USH2A):c.1840+9C>T
|
rs1452138200
|
0.00004
|
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln)
|
rs192524347
|
0.00004
|
NM_206933.4(USH2A):c.1972-1G>A
|
rs372927796
|
0.00004
|
NM_206933.4(USH2A):c.2135del (p.Asn711_Ser712insTer)
|
rs1238314101
|
0.00004
|
NM_206933.4(USH2A):c.2167+15A>G
|
rs779599960
|
0.00004
|
NM_206933.4(USH2A):c.22T>C (p.Leu8=)
|
rs778803503
|
0.00004
|
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)
|
rs557642490
|
0.00004
|
NM_206933.4(USH2A):c.2993+10T>C
|
rs767347172
|
0.00004
|
NM_206933.4(USH2A):c.3025G>A (p.Ala1009Thr)
|
rs756977189
|
0.00004
|
NM_206933.4(USH2A):c.3780T>C (p.His1260=)
|
rs759937489
|
0.00004
|
NM_206933.4(USH2A):c.3811+10C>A
|
rs769756794
|
0.00004
|
NM_206933.4(USH2A):c.3812G>A (p.Gly1271Glu)
|
rs748216235
|
0.00004
|
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp)
|
rs540537272
|
0.00004
|
NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His)
|
rs374449657
|
0.00004
|
NM_206933.4(USH2A):c.4293A>G (p.Val1431=)
|
rs142068313
|
0.00004
|
NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr)
|
rs752059469
|
0.00004
|
NM_206933.4(USH2A):c.4397-11C>T
|
rs761508203
|
0.00004
|
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His)
|
rs770394440
|
0.00004
|
NM_206933.4(USH2A):c.4692C>A (p.Gly1564=)
|
rs950317696
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
NM_206933.4(USH2A):c.4987+13A>C
|
rs190870617
|
0.00004
|
NM_206933.4(USH2A):c.5052G>A (p.Pro1684=)
|
rs747119023
|
0.00004
|
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val)
|
rs201804063
|
0.00004
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00004
|
NM_206933.4(USH2A):c.6096A>G (p.Leu2032=)
|
rs376669318
|
0.00004
|
NM_206933.4(USH2A):c.6372A>T (p.Thr2124=)
|
rs548332655
|
0.00004
|
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg)
|
rs370643158
|
0.00004
|
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu)
|
rs143107117
|
0.00004
|
NM_206933.4(USH2A):c.6622G>A (p.Val2208Ile)
|
rs747250565
|
0.00004
|
NM_206933.4(USH2A):c.6765C>T (p.Asp2255=)
|
rs767205760
|
0.00004
|
NM_206933.4(USH2A):c.6979G>A (p.Ala2327Thr)
|
rs747835402
|
0.00004
|
NM_206933.4(USH2A):c.723T>C (p.Thr241=)
|
rs571744403
|
0.00004
|
NM_206933.4(USH2A):c.7429G>A (p.Asp2477Asn)
|
rs772852467
|
0.00004
|
NM_206933.4(USH2A):c.7473A>G (p.Ala2491=)
|
rs370341810
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_206933.4(USH2A):c.7537T>G (p.Ser2513Ala)
|
rs375987841
|
0.00004
|
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys)
|
rs777682016
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp)
|
rs141134147
|
0.00004
|
NM_206933.4(USH2A):c.801C>T (p.Val267=)
|
rs547847873
|
0.00004
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys)
|
rs531822235
|
0.00004
|
NM_206933.4(USH2A):c.8234A>G (p.Lys2745Arg)
|
rs753212183
|
0.00004
|
NM_206933.4(USH2A):c.867C>T (p.Phe289=)
|
rs769958568
|
0.00004
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_206933.4(USH2A):c.8789A>G (p.Asn2930Ser)
|
rs778607993
|
0.00004
|
NM_206933.4(USH2A):c.8856C>T (p.Asp2952=)
|
rs149306655
|
0.00004
|
NM_206933.4(USH2A):c.8893A>G (p.Ser2965Gly)
|
rs373107700
|
0.00004
|
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile)
|
rs769479181
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)
|
rs397518044
|
0.00004
|
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)
|
rs1380261595
|
0.00004
|
NM_206933.4(USH2A):c.9366T>C (p.Thr3122=)
|
rs777448349
|
0.00004
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
NM_206933.4(USH2A):c.9591C>G (p.Leu3197=)
|
rs144371939
|
0.00004
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
NM_206933.4(USH2A):c.9684G>A (p.Gln3228=)
|
rs200038117
|
0.00004
|
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr)
|
rs758614136
|
0.00004
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
NM_206933.4(USH2A):c.10183-18C>T
|
rs528065173
|
0.00003
|
NM_206933.4(USH2A):c.10189A>G (p.Lys3397Glu)
|
rs777959748
|
0.00003
|
NM_206933.4(USH2A):c.10208G>A (p.Cys3403Tyr)
|
rs202009522
|
0.00003
|
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg)
|
rs375485721
|
0.00003
|
NM_206933.4(USH2A):c.10387+5C>G
|
rs746536041
|
0.00003
|
NM_206933.4(USH2A):c.10414T>C (p.Tyr3472His)
|
rs375487139
|
0.00003
|
NM_206933.4(USH2A):c.10449G>A (p.Gly3483=)
|
rs751663815
|
0.00003
|
NM_206933.4(USH2A):c.10497T>C (p.Pro3499=)
|
rs749177032
|
0.00003
|
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
NM_206933.4(USH2A):c.10663G>A (p.Glu3555Lys)
|
rs1004971373
|
0.00003
|
NM_206933.4(USH2A):c.10675C>T (p.Pro3559Ser)
|
rs748298845
|
0.00003
|
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter)
|
rs749702843
|
0.00003
|
NM_206933.4(USH2A):c.10849A>G (p.Asn3617Asp)
|
rs777178240
|
0.00003
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
NM_206933.4(USH2A):c.11148A>G (p.Gln3716=)
|
rs747110792
|
0.00003
|
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)
|
rs777465132
|
0.00003
|
NM_206933.4(USH2A):c.11288A>G (p.Tyr3763Cys)
|
rs187198330
|
0.00003
|
NM_206933.4(USH2A):c.11391G>A (p.Gly3797=)
|
rs751834075
|
0.00003
|
NM_206933.4(USH2A):c.11478T>C (p.His3826=)
|
rs756007833
|
0.00003
|
NM_206933.4(USH2A):c.11505T>C (p.Thr3835=)
|
rs966979589
|
0.00003
|
NM_206933.4(USH2A):c.11580C>T (p.Val3860=)
|
rs762253687
|
0.00003
|
NM_206933.4(USH2A):c.12003C>A (p.Val4001=)
|
rs769073555
|
0.00003
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
NM_206933.4(USH2A):c.12384C>T (p.Tyr4128=)
|
rs898874936
|
0.00003
|
NM_206933.4(USH2A):c.12395T>C (p.Leu4132Pro)
|
rs767712486
|
0.00003
|
NM_206933.4(USH2A):c.12429G>A (p.Ser4143=)
|
rs766310214
|
0.00003
|
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
|
rs564240175
|
0.00003
|
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)
|
rs397517984
|
0.00003
|
NM_206933.4(USH2A):c.12918C>T (p.Leu4306=)
|
rs192709780
|
0.00003
|
NM_206933.4(USH2A):c.12996A>C (p.Ala4332=)
|
rs775675202
|
0.00003
|
NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys)
|
rs794727826
|
0.00003
|
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)
|
rs141696914
|
0.00003
|
NM_206933.4(USH2A):c.13609C>T (p.Pro4537Ser)
|
rs1435495561
|
0.00003
|
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu)
|
rs765354805
|
0.00003
|
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val)
|
rs376077079
|
0.00003
|
NM_206933.4(USH2A):c.1412A>G (p.Tyr471Cys)
|
rs794727938
|
0.00003
|
NM_206933.4(USH2A):c.14316C>T (p.Ser4772=)
|
rs760093687
|
0.00003
|
NM_206933.4(USH2A):c.14344-9C>T
|
rs1017887391
|
0.00003
|
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)
|
rs746837034
|
0.00003
|
NM_206933.4(USH2A):c.1449G>A (p.Thr483=)
|
rs755603663
|
0.00003
|
NM_206933.4(USH2A):c.14940C>T (p.Thr4980=)
|
rs369245184
|
0.00003
|
NM_206933.4(USH2A):c.14952G>A (p.Pro4984=)
|
rs547831528
|
0.00003
|
NM_206933.4(USH2A):c.15000C>T (p.Asp5000=)
|
rs756699087
|
0.00003
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
NM_206933.4(USH2A):c.15499A>G (p.Met5167Val)
|
rs755573653
|
0.00003
|
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)
|
rs201332729
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
NM_206933.4(USH2A):c.1652G>A (p.Arg551His)
|
rs746477843
|
0.00003
|
NM_206933.4(USH2A):c.1977A>G (p.Gly659=)
|
rs774388489
|
0.00003
|
NM_206933.4(USH2A):c.2184T>C (p.His728=)
|
rs745314118
|
0.00003
|
NM_206933.4(USH2A):c.2259C>T (p.Gly753=)
|
rs1161227031
|
0.00003
|
NM_206933.4(USH2A):c.2919A>G (p.Gln973=)
|
rs138484134
|
0.00003
|
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)
|
rs1064793745
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_206933.4(USH2A):c.3575G>A (p.Gly1192Asp)
|
rs370882987
|
0.00003
|
NM_206933.4(USH2A):c.357C>T (p.Asn119=)
|
rs562750831
|
0.00003
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.3665C>T (p.Ala1222Val)
|
rs200081251
|
0.00003
|
NM_206933.4(USH2A):c.3679G>C (p.Gly1227Arg)
|
rs765613123
|
0.00003
|
NM_206933.4(USH2A):c.3786A>G (p.Glu1262=)
|
rs761581978
|
0.00003
|
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val)
|
rs768141777
|
0.00003
|
NM_206933.4(USH2A):c.3812-17C>T
|
rs776286938
|
0.00003
|
NM_206933.4(USH2A):c.3975C>A (p.Thr1325=)
|
rs141889269
|
0.00003
|
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)
|
rs781668118
|
0.00003
|
NM_206933.4(USH2A):c.4096A>T (p.Ile1366Phe)
|
rs779530910
|
0.00003
|
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg)
|
rs370430107
|
0.00003
|
NM_206933.4(USH2A):c.4242G>A (p.Ala1414=)
|
rs370977346
|
0.00003
|
NM_206933.4(USH2A):c.4252-7C>A
|
rs749109537
|
0.00003
|
NM_206933.4(USH2A):c.4377A>G (p.Ala1459=)
|
rs139709410
|
0.00003
|
NM_206933.4(USH2A):c.4627+15C>T
|
rs753668177
|
0.00003
|
NM_206933.4(USH2A):c.4687C>G (p.Pro1563Ala)
|
rs370391920
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln)
|
rs372436408
|
0.00003
|
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)
|
rs771088957
|
0.00003
|
NM_206933.4(USH2A):c.5130C>T (p.Pro1710=)
|
rs747065891
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_206933.4(USH2A):c.5607A>G (p.Thr1869=)
|
rs779171771
|
0.00003
|
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys)
|
rs145647517
|
0.00003
|
NM_206933.4(USH2A):c.5865A>G (p.Gln1955=)
|
rs763291789
|
0.00003
|
NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly)
|
rs775877218
|
0.00003
|
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)
|
rs370597096
|
0.00003
|
NM_206933.4(USH2A):c.6216G>A (p.Leu2072=)
|
rs770033251
|
0.00003
|
NM_206933.4(USH2A):c.627G>A (p.Lys209=)
|
rs146402815
|
0.00003
|
NM_206933.4(USH2A):c.6385A>G (p.Thr2129Ala)
|
rs184267885
|
0.00003
|
NM_206933.4(USH2A):c.6435C>T (p.His2145=)
|
rs754125117
|
0.00003
|
NM_206933.4(USH2A):c.651+7A>G
|
rs567967063
|
0.00003
|
NM_206933.4(USH2A):c.6618A>G (p.Gln2206=)
|
rs745614158
|
0.00003
|
NM_206933.4(USH2A):c.6621C>T (p.Tyr2207=)
|
rs771072859
|
0.00003
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp)
|
rs149606872
|
0.00003
|
NM_206933.4(USH2A):c.7224T>C (p.Tyr2408=)
|
rs369308504
|
0.00003
|
NM_206933.4(USH2A):c.7573C>A (p.Pro2525Thr)
|
rs762553660
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=)
|
rs773159617
|
0.00003
|
NM_206933.4(USH2A):c.7698T>C (p.Tyr2566=)
|
rs533751971
|
0.00003
|
NM_206933.4(USH2A):c.7872G>A (p.Pro2624=)
|
rs760006240
|
0.00003
|
NM_206933.4(USH2A):c.7965G>A (p.Glu2655=)
|
rs571110005
|
0.00003
|
NM_206933.4(USH2A):c.8176G>A (p.Gly2726Arg)
|
rs1048653046
|
0.00003
|
NM_206933.4(USH2A):c.8178G>A (p.Gly2726=)
|
rs771581716
|
0.00003
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
0.00003
|
NM_206933.4(USH2A):c.8347C>T (p.Leu2783=)
|
rs764559200
|
0.00003
|
NM_206933.4(USH2A):c.8456C>A (p.Thr2819Asn)
|
rs894122981
|
0.00003
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
0.00003
|
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His)
|
rs778272177
|
0.00003
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
NM_206933.4(USH2A):c.9220C>T (p.Leu3074=)
|
rs1460250943
|
0.00003
|
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val)
|
rs527689947
|
0.00003
|
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn)
|
rs143872133
|
0.00003
|
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys)
|
rs576236830
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_206933.4(USH2A):c.9582C>T (p.Asn3194=)
|
rs764892257
|
0.00003
|
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg)
|
rs149027999
|
0.00003
|
NM_206933.4(USH2A):c.9585A>G (p.Gly3195=)
|
rs139714378
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile)
|
rs397518050
|
0.00003
|
NM_206933.4(USH2A):c.9990T>C (p.Asn3330=)
|
rs762565385
|
0.00003
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_206933.4(USH2A):c.1011T>C (p.Pro337=)
|
rs146950070
|
0.00002
|
NM_206933.4(USH2A):c.10133C>T (p.Pro3378Leu)
|
rs1253377260
|
0.00002
|
NM_206933.4(USH2A):c.10145T>G (p.Val3382Gly)
|
rs1198689866
|
0.00002
|
NM_206933.4(USH2A):c.10183-12C>T
|
rs747413632
|
0.00002
|
NM_206933.4(USH2A):c.10236T>C (p.His3412=)
|
rs746257178
|
0.00002
|
NM_206933.4(USH2A):c.10266C>A (p.Ser3422Arg)
|
rs200756318
|
0.00002
|
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=)
|
rs760725818
|
0.00002
|
NM_206933.4(USH2A):c.10388-10C>A
|
rs762244836
|
0.00002
|
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)
|
rs397517966
|
0.00002
|
NM_206933.4(USH2A):c.10586-16T>C
|
rs754260240
|
0.00002
|
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln)
|
rs774844491
|
0.00002
|
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp)
|
rs145718329
|
0.00002
|
NM_206933.4(USH2A):c.10680T>C (p.Phe3560=)
|
rs1353859745
|
0.00002
|
NM_206933.4(USH2A):c.10777A>G (p.Ile3593Val)
|
rs746312367
|
0.00002
|
NM_206933.4(USH2A):c.10808C>T (p.Ala3603Val)
|
rs753430531
|
0.00002
|
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)
|
rs750321557
|
0.00002
|
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)
|
rs778158900
|
0.00002
|
NM_206933.4(USH2A):c.10940-11G>C
|
rs753961299
|
0.00002
|
NM_206933.4(USH2A):c.10969A>G (p.Thr3657Ala)
|
rs747966256
|
0.00002
|
NM_206933.4(USH2A):c.11007C>T (p.Ser3669=)
|
rs752000364
|
0.00002
|
NM_206933.4(USH2A):c.11047+6G>A
|
rs748013097
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_206933.4(USH2A):c.11074A>G (p.Ile3692Val)
|
rs758785058
|
0.00002
|
NM_206933.4(USH2A):c.1107G>A (p.Val369=)
|
rs778756721
|
0.00002
|
NM_206933.4(USH2A):c.11103T>C (p.Tyr3701=)
|
rs143453173
|
0.00002
|
NM_206933.4(USH2A):c.11124C>G (p.Pro3708=)
|
rs773828586
|
0.00002
|
NM_206933.4(USH2A):c.11389+7A>T
|
rs766415683
|
0.00002
|
NM_206933.4(USH2A):c.11390-7T>C
|
rs201067257
|
0.00002
|
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala)
|
rs760024584
|
0.00002
|
NM_206933.4(USH2A):c.1144-18T>C
|
rs931154306
|
0.00002
|
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro)
|
rs201961789
|
0.00002
|
NM_206933.4(USH2A):c.11703T>C (p.Phe3901=)
|
rs751845254
|
0.00002
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
0.00002
|
NM_206933.4(USH2A):c.1185G>A (p.Thr395=)
|
rs981478325
|
0.00002
|
NM_206933.4(USH2A):c.1189A>G (p.Ile397Val)
|
rs984959407
|
0.00002
|
NM_206933.4(USH2A):c.12018C>T (p.Pro4006=)
|
rs777267938
|
0.00002
|
NM_206933.4(USH2A):c.12021C>T (p.Asp4007=)
|
rs1387370996
|
0.00002
|
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala)
|
rs754979740
|
0.00002
|
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly)
|
rs376528829
|
0.00002
|
NM_206933.4(USH2A):c.1215T>C (p.Asn405=)
|
rs745587883
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
0.00002
|
NM_206933.4(USH2A):c.12295-2A>G
|
rs151148854
|
0.00002
|
NM_206933.4(USH2A):c.12361C>T (p.Arg4121Cys)
|
rs772357461
|
0.00002
|
NM_206933.4(USH2A):c.12428C>T (p.Ser4143Leu)
|
rs373319380
|
0.00002
|
NM_206933.4(USH2A):c.12457G>A (p.Ala4153Thr)
|
rs145531316
|
0.00002
|
NM_206933.4(USH2A):c.12513T>A (p.Val4171=)
|
rs751928451
|
0.00002
|
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala)
|
rs140010020
|
0.00002
|
NM_206933.4(USH2A):c.12801T>G (p.Ser4267=)
|
rs745588415
|
0.00002
|
NM_206933.4(USH2A):c.12894T>C (p.Tyr4298=)
|
rs1413937386
|
0.00002
|
NM_206933.4(USH2A):c.13101C>T (p.Val4367=)
|
rs368238081
|
0.00002
|
NM_206933.4(USH2A):c.13107C>T (p.Ala4369=)
|
rs898159946
|
0.00002
|
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile)
|
rs533179037
|
0.00002
|
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile)
|
rs373152283
|
0.00002
|
NM_206933.4(USH2A):c.13446T>C (p.Asp4482=)
|
rs200601403
|
0.00002
|
NM_206933.4(USH2A):c.13485T>A (p.Arg4495=)
|
rs533727047
|
0.00002
|
NM_206933.4(USH2A):c.13530T>C (p.Thr4510=)
|
rs150654038
|
0.00002
|
NM_206933.4(USH2A):c.13539C>T (p.Asn4513=)
|
rs761673100
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_206933.4(USH2A):c.13761T>C (p.Asn4587=)
|
rs762066961
|
0.00002
|
NM_206933.4(USH2A):c.1391G>A (p.Arg464His)
|
rs771000800
|
0.00002
|
NM_206933.4(USH2A):c.13955C>A (p.Thr4652Asn)
|
rs148605973
|
0.00002
|
NM_206933.4(USH2A):c.14011G>A (p.Glu4671Lys)
|
rs769560933
|
0.00002
|
NM_206933.4(USH2A):c.14100C>T (p.Ser4700=)
|
rs778162193
|
0.00002
|
NM_206933.4(USH2A):c.14133+10G>T
|
rs376302401
|
0.00002
|
NM_206933.4(USH2A):c.14190C>T (p.Thr4730=)
|
rs199694401
|
0.00002
|
NM_206933.4(USH2A):c.14244T>C (p.Ser4748=)
|
rs751831337
|
0.00002
|
NM_206933.4(USH2A):c.14344-1G>T
|
rs919142559
|
0.00002
|
NM_206933.4(USH2A):c.14349C>T (p.Ser4783=)
|
rs770927582
|
0.00002
|
NM_206933.4(USH2A):c.1446C>T (p.Ala482=)
|
rs757969181
|
0.00002
|
NM_206933.4(USH2A):c.14528G>A (p.Arg4843Lys)
|
rs768433165
|
0.00002
|
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=)
|
rs773859845
|
0.00002
|
NM_206933.4(USH2A):c.14643C>T (p.Ser4881=)
|
rs764036605
|
0.00002
|
NM_206933.4(USH2A):c.14739C>T (p.Asn4913=)
|
rs774695239
|
0.00002
|
NM_206933.4(USH2A):c.14740G>A (p.Glu4914Lys)
|
rs199829169
|
0.00002
|
NM_206933.4(USH2A):c.14771G>T (p.Ser4924Ile)
|
rs145731949
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
NM_206933.4(USH2A):c.14824A>G (p.Ser4942Gly)
|
rs759844511
|
0.00002
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
NM_206933.4(USH2A):c.1510C>A (p.His504Asn)
|
rs533024548
|
0.00002
|
NM_206933.4(USH2A):c.15139A>C (p.Met5047Leu)
|
rs773541511
|
0.00002
|
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
NM_206933.4(USH2A):c.15248A>T (p.Gln5083Leu)
|
rs774644535
|
0.00002
|
NM_206933.4(USH2A):c.15298-7T>C
|
rs747624398
|
0.00002
|
NM_206933.4(USH2A):c.15345C>A (p.Ile5115=)
|
rs376108157
|
0.00002
|
NM_206933.4(USH2A):c.15357G>A (p.Arg5119=)
|
rs774068061
|
0.00002
|
NM_206933.4(USH2A):c.15520-1G>A
|
rs767265734
|
0.00002
|
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr)
|
rs267598369
|
0.00002
|
NM_206933.4(USH2A):c.15575A>T (p.Lys5192Met)
|
rs761474352
|
0.00002
|
NM_206933.4(USH2A):c.15582C>T (p.Arg5194=)
|
rs775780004
|
0.00002
|
NM_206933.4(USH2A):c.1572C>T (p.Ala524=)
|
rs748943923
|
0.00002
|
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn)
|
rs551424240
|
0.00002
|
NM_206933.4(USH2A):c.1644+15del
|
rs1245485091
|
0.00002
|
NM_206933.4(USH2A):c.1644+1G>A
|
rs912980910
|
0.00002
|
NM_206933.4(USH2A):c.1684C>T (p.Arg562Cys)
|
rs766452143
|
0.00002
|
NM_206933.4(USH2A):c.1789C>A (p.His597Asn)
|
rs201127450
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.1956C>T (p.Ser652=)
|
rs1210971360
|
0.00002
|
NM_206933.4(USH2A):c.1995G>A (p.Lys665=)
|
rs969622620
|
0.00002
|
NM_206933.4(USH2A):c.2040C>T (p.Phe680=)
|
rs760563366
|
0.00002
|
NM_206933.4(USH2A):c.2049A>G (p.Leu683=)
|
rs774618856
|
0.00002
|
NM_206933.4(USH2A):c.2112A>C (p.Gly704=)
|
rs750382057
|
0.00002
|
NM_206933.4(USH2A):c.2168-16T>C
|
rs761307427
|
0.00002
|
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
|
rs757154662
|
0.00002
|
NM_206933.4(USH2A):c.2206C>T (p.Leu736Phe)
|
rs758063197
|
0.00002
|
NM_206933.4(USH2A):c.240C>T (p.Thr80=)
|
rs1007368693
|
0.00002
|
NM_206933.4(USH2A):c.274T>G (p.Ser92Ala)
|
rs192918169
|
0.00002
|
NM_206933.4(USH2A):c.2853C>T (p.Cys951=)
|
rs755849157
|
0.00002
|
NM_206933.4(USH2A):c.2973A>G (p.Gly991=)
|
rs756073932
|
0.00002
|
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val)
|
rs768158580
|
0.00002
|
NM_206933.4(USH2A):c.3212A>G (p.Asn1071Ser)
|
rs533927645
|
0.00002
|
NM_206933.4(USH2A):c.3316+5G>C
|
rs1442104013
|
0.00002
|
NM_206933.4(USH2A):c.3327C>T (p.Tyr1109=)
|
rs758705873
|
0.00002
|
NM_206933.4(USH2A):c.3342C>T (p.Asp1114=)
|
rs755765979
|
0.00002
|
NM_206933.4(USH2A):c.3594C>T (p.Tyr1198=)
|
rs749578295
|
0.00002
|
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)
|
rs764479854
|
0.00002
|
NM_206933.4(USH2A):c.3675C>T (p.Ser1225=)
|
rs763565842
|
0.00002
|
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn)
|
rs747578300
|
0.00002
|
NM_206933.4(USH2A):c.3980C>T (p.Thr1327Ile)
|
rs774663133
|
0.00002
|
NM_206933.4(USH2A):c.4071G>A (p.Thr1357=)
|
rs745962568
|
0.00002
|
NM_206933.4(USH2A):c.4125G>A (p.Ser1375=)
|
rs141366961
|
0.00002
|
NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys)
|
rs753908845
|
0.00002
|
NM_206933.4(USH2A):c.4305A>G (p.Lys1435=)
|
rs764720417
|
0.00002
|
NM_206933.4(USH2A):c.4620C>T (p.Asp1540=)
|
rs764722698
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
NM_206933.4(USH2A):c.4720T>C (p.Leu1574=)
|
rs755686715
|
0.00002
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His)
|
rs761306493
|
0.00002
|
NM_206933.4(USH2A):c.486-20T>C
|
rs763518495
|
0.00002
|
NM_206933.4(USH2A):c.486-9C>T
|
rs867139402
|
0.00002
|
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=)
|
rs111033532
|
0.00002
|
NM_206933.4(USH2A):c.5028A>G (p.Val1676=)
|
rs376661078
|
0.00002
|
NM_206933.4(USH2A):c.5063G>T (p.Trp1688Leu)
|
rs1223810066
|
0.00002
|
NM_206933.4(USH2A):c.5095C>A (p.Gln1699Lys)
|
rs1351926905
|
0.00002
|
NM_206933.4(USH2A):c.5168-10A>G
|
rs774689351
|
0.00002
|
NM_206933.4(USH2A):c.5271T>C (p.Tyr1757=)
|
rs750567606
|
0.00002
|
NM_206933.4(USH2A):c.5472G>A (p.Ser1824=)
|
rs775206984
|
0.00002
|
NM_206933.4(USH2A):c.5538G>C (p.Leu1846=)
|
rs370356689
|
0.00002
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
NM_206933.4(USH2A):c.5643C>T (p.Ser1881=)
|
rs145535748
|
0.00002
|
NM_206933.4(USH2A):c.565C>T (p.Arg189Cys)
|
rs370653547
|
0.00002
|
NM_206933.4(USH2A):c.579T>G (p.Gly193=)
|
rs779547717
|
0.00002
|
NM_206933.4(USH2A):c.5829T>C (p.Asp1943=)
|
rs140922350
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_206933.4(USH2A):c.6047C>T (p.Thr2016Ile)
|
rs750260175
|
0.00002
|
NM_206933.4(USH2A):c.6050-14C>T
|
rs373004987
|
0.00002
|
NM_206933.4(USH2A):c.6050-3T>C
|
rs368789291
|
0.00002
|
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr)
|
rs749333215
|
0.00002
|
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=)
|
rs727505165
|
0.00002
|
NM_206933.4(USH2A):c.6197C>T (p.Ser2066Phe)
|
rs2030530878
|
0.00002
|
NM_206933.4(USH2A):c.6380G>A (p.Gly2127Asp)
|
rs964562748
|
0.00002
|
NM_206933.4(USH2A):c.6390C>T (p.Asn2130=)
|
rs745584142
|
0.00002
|
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe)
|
rs756234447
|
0.00002
|
NM_206933.4(USH2A):c.6564A>T (p.Thr2188=)
|
rs144892471
|
0.00002
|
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs)
|
rs1284826852
|
0.00002
|
NM_206933.4(USH2A):c.6729C>T (p.Gly2243=)
|
rs369511538
|
0.00002
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00002
|
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met)
|
rs776972526
|
0.00002
|
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)
|
rs768253909
|
0.00002
|
NM_206933.4(USH2A):c.6986C>A (p.Pro2329His)
|
rs554957414
|
0.00002
|
NM_206933.4(USH2A):c.7056T>C (p.Pro2352=)
|
rs774069097
|
0.00002
|
NM_206933.4(USH2A):c.7089C>G (p.Val2363=)
|
rs1175652008
|
0.00002
|
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg)
|
rs375744536
|
0.00002
|
NM_206933.4(USH2A):c.7157T>C (p.Val2386Ala)
|
rs750076512
|
0.00002
|
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe)
|
rs372950392
|
0.00002
|
NM_206933.4(USH2A):c.7197C>T (p.Ile2399=)
|
rs1305453013
|
0.00002
|
NM_206933.4(USH2A):c.7284T>C (p.Ile2428=)
|
rs369711830
|
0.00002
|
NM_206933.4(USH2A):c.7301-5G>A
|
rs1181117335
|
0.00002
|
NM_206933.4(USH2A):c.7500C>T (p.Leu2500=)
|
rs576687895
|
0.00002
|
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys)
|
rs937606032
|
0.00002
|
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp)
|
rs1394948601
|
0.00002
|
NM_206933.4(USH2A):c.7670G>C (p.Arg2557Thr)
|
rs143628000
|
0.00002
|
NM_206933.4(USH2A):c.7776A>G (p.Pro2592=)
|
rs753565758
|
0.00002
|
NM_206933.4(USH2A):c.7791G>A (p.Lys2597=)
|
rs148589851
|
0.00002
|
NM_206933.4(USH2A):c.7851A>G (p.Val2617=)
|
rs1278356004
|
0.00002
|
NM_206933.4(USH2A):c.7869A>C (p.Ala2623=)
|
rs140903914
|
0.00002
|
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)
|
rs748455430
|
0.00002
|
NM_206933.4(USH2A):c.7906A>G (p.Thr2636Ala)
|
rs752549947
|
0.00002
|
NM_206933.4(USH2A):c.792G>A (p.Glu264=)
|
rs886043440
|
0.00002
|
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=)
|
rs766443785
|
0.00002
|
NM_206933.4(USH2A):c.8084A>G (p.Lys2695Arg)
|
rs770631315
|
0.00002
|
NM_206933.4(USH2A):c.8188C>A (p.Pro2730Thr)
|
rs768532694
|
0.00002
|
NM_206933.4(USH2A):c.8222A>G (p.Gln2741Arg)
|
rs374456269
|
0.00002
|
NM_206933.4(USH2A):c.8253C>T (p.Asn2751=)
|
rs368877266
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_206933.4(USH2A):c.8405A>G (p.Tyr2802Cys)
|
rs764812165
|
0.00002
|
NM_206933.4(USH2A):c.8436C>G (p.Thr2812=)
|
rs768681176
|
0.00002
|
NM_206933.4(USH2A):c.8443A>G (p.Thr2815Ala)
|
rs780543913
|
0.00002
|
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala)
|
rs759063087
|
0.00002
|
NM_206933.4(USH2A):c.8632A>G (p.Asn2878Asp)
|
rs1406942984
|
0.00002
|
NM_206933.4(USH2A):c.8645G>C (p.Gly2882Ala)
|
rs527467361
|
0.00002
|
NM_206933.4(USH2A):c.8681+10C>T
|
rs755654922
|
0.00002
|
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln)
|
rs760779633
|
0.00002
|
NM_206933.4(USH2A):c.8826C>T (p.Asp2942=)
|
rs775823422
|
0.00002
|
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu)
|
rs1467856164
|
0.00002
|
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr)
|
rs759365458
|
0.00002
|
NM_206933.4(USH2A):c.9048C>T (p.Cys3016=)
|
rs1057519208
|
0.00002
|
NM_206933.4(USH2A):c.9055+17A>G
|
rs543364596
|
0.00002
|
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr)
|
rs876658116
|
0.00002
|
NM_206933.4(USH2A):c.9189G>A (p.Lys3063=)
|
rs1403708355
|
0.00002
|
NM_206933.4(USH2A):c.9225A>G (p.Arg3075=)
|
rs760084505
|
0.00002
|
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=)
|
rs181961185
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_206933.4(USH2A):c.9371+9T>A
|
rs748389955
|
0.00002
|
NM_206933.4(USH2A):c.9400C>T (p.Arg3134Trp)
|
rs749482634
|
0.00002
|
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val)
|
rs750899958
|
0.00002
|
NM_206933.4(USH2A):c.9624A>G (p.Glu3208=)
|
rs751153999
|
0.00002
|
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp)
|
rs762076576
|
0.00002
|
NM_206933.4(USH2A):c.981A>T (p.Thr327=)
|
rs745499163
|
0.00002
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00002
|
NM_206933.4(USH2A):c.9876G>A (p.Gln3292=)
|
rs375754464
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_206933.4(USH2A):c.9958+8G>A
|
rs370383574
|
0.00002
|
NM_206933.4(USH2A):c.9959-20A>G
|
rs373306164
|
0.00002
|
NC_000001.10:g.216373413A>G
|
rs794729204
|
0.00001
|
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)
|
rs770756678
|
0.00001
|
NM_206933.4(USH2A):c.10026A>C (p.Gly3342=)
|
rs375107022
|
0.00001
|
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu)
|
rs755020832
|
0.00001
|
NM_206933.4(USH2A):c.10064C>T (p.Pro3355Leu)
|
rs1253788950
|
0.00001
|
NM_206933.4(USH2A):c.10089T>C (p.Leu3363=)
|
rs759139595
|
0.00001
|
NM_206933.4(USH2A):c.10093C>G (p.Pro3365Ala)
|
rs1661940699
|
0.00001
|
NM_206933.4(USH2A):c.10112G>A (p.Cys3371Tyr)
|
rs1661940280
|
0.00001
|
NM_206933.4(USH2A):c.10158G>A (p.Lys3386=)
|
rs768747539
|
0.00001
|
NM_206933.4(USH2A):c.10182+14A>G
|
rs1661936506
|
0.00001
|
NM_206933.4(USH2A):c.10182+19C>T
|
rs900231714
|
0.00001
|
NM_206933.4(USH2A):c.10182+5T>C
|
rs1049628868
|
0.00001
|
NM_206933.4(USH2A):c.10182+9T>C
|
rs764985570
|
0.00001
|
NM_206933.4(USH2A):c.10182G>A (p.Lys3394=)
|
rs751903445
|
0.00001
|
NM_206933.4(USH2A):c.10196G>A (p.Cys3399Tyr)
|
rs765920408
|
0.00001
|
NM_206933.4(USH2A):c.10217C>G (p.Ser3406Cys)
|
rs774237501
|
0.00001
|
NM_206933.4(USH2A):c.10263C>T (p.Thr3421=)
|
rs1558097539
|
0.00001
|
NM_206933.4(USH2A):c.10308G>A (p.Gly3436=)
|
rs375042944
|
0.00001
|
NM_206933.4(USH2A):c.10311G>A (p.Lys3437=)
|
rs777618025
|
0.00001
|
NM_206933.4(USH2A):c.10319T>C (p.Ile3440Thr)
|
rs1558097475
|
0.00001
|
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
|
rs149485593
|
0.00001
|
NM_206933.4(USH2A):c.10383C>T (p.Tyr3461=)
|
rs781045789
|
0.00001
|
NM_206933.4(USH2A):c.10392G>A (p.Val3464=)
|
rs763456888
|
0.00001
|
NM_206933.4(USH2A):c.10401G>A (p.Lys3467=)
|
rs746620623
|
0.00001
|
NM_206933.4(USH2A):c.10406A>G (p.Tyr3469Cys)
|
rs982424534
|
0.00001
|
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly)
|
rs762384558
|
0.00001
|
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys)
|
rs749121941
|
0.00001
|
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly)
|
rs141098637
|
0.00001
|
NM_206933.4(USH2A):c.10446T>C (p.Tyr3482=)
|
rs767501966
|
0.00001
|
NM_206933.4(USH2A):c.10450C>A (p.Arg3484=)
|
rs111033379
|
0.00001
|
NM_206933.4(USH2A):c.1047T>C (p.Asp349=)
|
rs775053681
|
0.00001
|
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=)
|
rs397517967
|
0.00001
|
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)
|
rs777043718
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.10583A>G (p.Asn3528Ser)
|
rs1353682085
|
0.00001
|
NM_206933.4(USH2A):c.10584T>C (p.Asn3528=)
|
rs775566366
|
0.00001
|
NM_206933.4(USH2A):c.10586-2A>G
|
rs370327669
|
0.00001
|
NM_206933.4(USH2A):c.10617T>C (p.Asn3539=)
|
rs1272577614
|
0.00001
|
NM_206933.4(USH2A):c.10677A>G (p.Pro3559=)
|
rs982936608
|
0.00001
|
NM_206933.4(USH2A):c.10692A>T (p.Ser3564=)
|
rs1661659716
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10713G>A (p.Thr3571=)
|
rs752269351
|
0.00001
|
NM_206933.4(USH2A):c.10722C>T (p.Gly3574=)
|
rs1204989533
|
0.00001
|
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)
|
rs111033265
|
0.00001
|
NM_206933.4(USH2A):c.10741-10A>G
|
rs760648770
|
0.00001
|
NM_206933.4(USH2A):c.10758C>A (p.Thr3586=)
|
rs780888992
|
0.00001
|
NM_206933.4(USH2A):c.10763G>C (p.Gly3588Ala)
|
rs567356824
|
0.00001
|
NM_206933.4(USH2A):c.10770G>A (p.Pro3590=)
|
rs371667168
|
0.00001
|
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile)
|
rs763125604
|
0.00001
|
NM_206933.4(USH2A):c.10854C>T (p.Gly3618=)
|
rs1348201363
|
0.00001
|
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)
|
rs779716464
|
0.00001
|
NM_206933.4(USH2A):c.10867T>C (p.Tyr3623His)
|
rs1440261810
|
0.00001
|
NM_206933.4(USH2A):c.10881G>A (p.Gln3627=)
|
rs757190680
|
0.00001
|
NM_206933.4(USH2A):c.10940-5T>G
|
rs774828720
|
0.00001
|
NM_206933.4(USH2A):c.10944C>A (p.Leu3648=)
|
rs1218907111
|
0.00001
|
NM_206933.4(USH2A):c.10950A>G (p.Pro3650=)
|
rs372690499
|
0.00001
|
NM_206933.4(USH2A):c.10953C>T (p.Tyr3651=)
|
rs777733968
|
0.00001
|
NM_206933.4(USH2A):c.10960T>C (p.Tyr3654His)
|
rs758299314
|
0.00001
|
NM_206933.4(USH2A):c.11047+10C>T
|
rs778693513
|
0.00001
|
NM_206933.4(USH2A):c.11047+1G>A
|
rs201730567
|
0.00001
|
NM_206933.4(USH2A):c.11070C>T (p.His3690=)
|
rs376959773
|
0.00001
|
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala)
|
rs765454203
|
0.00001
|
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
NM_206933.4(USH2A):c.11112G>A (p.Leu3704=)
|
rs1402082445
|
0.00001
|
NM_206933.4(USH2A):c.11155C>T (p.Arg3719Cys)
|
rs758951363
|
0.00001
|
NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly)
|
rs1341032857
|
0.00001
|
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn)
|
rs1373104511
|
0.00001
|
NM_206933.4(USH2A):c.1120G>A (p.Asp374Asn)
|
rs753619373
|
0.00001
|
NM_206933.4(USH2A):c.11211A>G (p.Lys3737=)
|
rs1335027135
|
0.00001
|
NM_206933.4(USH2A):c.11220G>A (p.Glu3740=)
|
rs1170088702
|
0.00001
|
NM_206933.4(USH2A):c.11232-3T>C
|
rs780354387
|
0.00001
|
NM_206933.4(USH2A):c.11244G>T (p.Lys3748Asn)
|
rs757908289
|
0.00001
|
NM_206933.4(USH2A):c.11248G>A (p.Glu3750Lys)
|
rs999582580
|
0.00001
|
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg)
|
rs397517971
|
0.00001
|
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser)
|
rs1289393326
|
0.00001
|
NM_206933.4(USH2A):c.11350A>C (p.Ile3784Leu)
|
rs1660884865
|
0.00001
|
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)
|
rs200521328
|
0.00001
|
NM_206933.4(USH2A):c.11389+1G>T
|
rs368770647
|
0.00001
|
NM_206933.4(USH2A):c.11389+2dup
|
rs1414433033
|
0.00001
|
NM_206933.4(USH2A):c.11389+3A>T
|
rs753886165
|
0.00001
|
NM_206933.4(USH2A):c.11390-3A>C
|
rs1379405755
|
0.00001
|
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)
|
rs111033395
|
0.00001
|
NM_206933.4(USH2A):c.11403C>T (p.Pro3801=)
|
rs775502523
|
0.00001
|
NM_206933.4(USH2A):c.1143+9A>G
|
rs1359383732
|
0.00001
|
NM_206933.4(USH2A):c.1144G>A (p.Val382Met)
|
rs750651679
|
0.00001
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
0.00001
|
NM_206933.4(USH2A):c.11516del (p.Gln3839fs)
|
rs1558078416
|
0.00001
|
NM_206933.4(USH2A):c.11548+9C>G
|
rs766767254
|
0.00001
|
NM_206933.4(USH2A):c.11549-10T>A
|
rs1660305657
|
0.00001
|
NM_206933.4(USH2A):c.11585C>G (p.Thr3862Arg)
|
rs886044126
|
0.00001
|
NM_206933.4(USH2A):c.11610T>G (p.Leu3870=)
|
rs1301657850
|
0.00001
|
NM_206933.4(USH2A):c.11622T>C (p.Val3874=)
|
rs1046946939
|
0.00001
|
NM_206933.4(USH2A):c.11631A>C (p.Ala3877=)
|
rs1318290007
|
0.00001
|
NM_206933.4(USH2A):c.11647A>G (p.Ile3883Val)
|
rs755107631
|
0.00001
|
NM_206933.4(USH2A):c.1169T>G (p.Phe390Cys)
|
rs2037685279
|
0.00001
|
NM_206933.4(USH2A):c.11711+8T>C
|
rs1166649415
|
0.00001
|
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile)
|
rs949082769
|
0.00001
|
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile)
|
rs1401744202
|
0.00001
|
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
|
rs1358947010
|
0.00001
|
NM_206933.4(USH2A):c.11790C>T (p.Asp3930=)
|
rs781378691
|
0.00001
|
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln)
|
rs727504582
|
0.00001
|
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303
|
0.00001
|
NM_206933.4(USH2A):c.11913T>C (p.Pro3971=)
|
rs779184532
|
0.00001
|
NM_206933.4(USH2A):c.11919T>C (p.Ala3973=)
|
rs1659884645
|
0.00001
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
NM_206933.4(USH2A):c.11961G>A (p.Lys3987=)
|
rs777038197
|
0.00001
|
NM_206933.4(USH2A):c.1197T>C (p.Ile399=)
|
rs776994287
|
0.00001
|
NM_206933.4(USH2A):c.12028A>G (p.Thr4010Ala)
|
rs765237520
|
0.00001
|
NM_206933.4(USH2A):c.12033T>C (p.Phe4011=)
|
rs759458250
|
0.00001
|
NM_206933.4(USH2A):c.12039C>T (p.Ser4013=)
|
rs1014812400
|
0.00001
|
NM_206933.4(USH2A):c.12040C>T (p.Pro4014Ser)
|
rs1265251013
|
0.00001
|
NM_206933.4(USH2A):c.12045C>T (p.Thr4015=)
|
rs755924483
|
0.00001
|
NM_206933.4(USH2A):c.12066+14G>C
|
rs992483379
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.12074G>T (p.Ser4025Ile)
|
rs1183608510
|
0.00001
|
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys)
|
rs772969352
|
0.00001
|
NM_206933.4(USH2A):c.12096G>A (p.Gly4032=)
|
rs1392274242
|
0.00001
|
NM_206933.4(USH2A):c.12106T>C (p.Phe4036Leu)
|
rs747696611
|
0.00001
|
NM_206933.4(USH2A):c.12132G>A (p.Val4044=)
|
rs751639489
|
0.00001
|
NM_206933.4(USH2A):c.12144T>C (p.His4048=)
|
rs375019482
|
0.00001
|
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)
|
rs1262416703
|
0.00001
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
0.00001
|
NM_206933.4(USH2A):c.1218T>A (p.Ser406Arg)
|
rs2037682584
|
0.00001
|
NM_206933.4(USH2A):c.12202G>A (p.Gly4068Arg)
|
rs1430838005
|
0.00001
|
NM_206933.4(USH2A):c.12204A>G (p.Gly4068=)
|
rs1462571463
|
0.00001
|
NM_206933.4(USH2A):c.12242G>A (p.Arg4081Gln)
|
rs541873542
|
0.00001
|
NM_206933.4(USH2A):c.12273G>A (p.Met4091Ile)
|
rs751834009
|
0.00001
|
NM_206933.4(USH2A):c.12281A>C (p.Asn4094Thr)
|
rs1358963233
|
0.00001
|
NM_206933.4(USH2A):c.12283G>A (p.Gly4095Ser)
|
rs1315543696
|
0.00001
|
NM_206933.4(USH2A):c.12303C>T (p.Asn4101=)
|
rs758511800
|
0.00001
|
NM_206933.4(USH2A):c.12304A>G (p.Ile4102Val)
|
rs377354842
|
0.00001
|
NM_206933.4(USH2A):c.12312T>C (p.Ser4104=)
|
rs778800460
|
0.00001
|
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg)
|
rs1174206381
|
0.00001
|
NM_206933.4(USH2A):c.1231G>T (p.Asp411Tyr)
|
rs1407219490
|
0.00001
|
NM_206933.4(USH2A):c.12322C>T (p.Leu4108=)
|
rs1201800056
|
0.00001
|
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His)
|
rs188008529
|
0.00001
|
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His)
|
rs397517980
|
0.00001
|
NM_206933.4(USH2A):c.12369T>C (p.Asp4123=)
|
rs779194517
|
0.00001
|
NM_206933.4(USH2A):c.12375C>T (p.Phe4125=)
|
rs1558049114
|
0.00001
|
NM_206933.4(USH2A):c.12387A>T (p.Thr4129=)
|
rs749359912
|
0.00001
|
NM_206933.4(USH2A):c.12393C>T (p.Thr4131=)
|
rs756645144
|
0.00001
|
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg)
|
rs138866017
|
0.00001
|
NM_206933.4(USH2A):c.12432G>A (p.Ala4144=)
|
rs773192157
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
NM_206933.4(USH2A):c.12455A>G (p.Glu4152Gly)
|
rs768614804
|
0.00001
|
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val)
|
rs779875423
|
0.00001
|
NM_206933.4(USH2A):c.12469dup (p.Ser4157fs)
|
rs773417196
|
0.00001
|
NM_206933.4(USH2A):c.12499A>G (p.Lys4167Glu)
|
rs1227523513
|
0.00001
|
NM_206933.4(USH2A):c.12559C>T (p.Arg4187Cys)
|
rs760177550
|
0.00001
|
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)
|
rs147304271
|
0.00001
|
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)
|
rs769001387
|
0.00001
|
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
|
rs955434291
|
0.00001
|
NM_206933.4(USH2A):c.12585C>T (p.Phe4195=)
|
rs763205825
|
0.00001
|
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)
|
rs141943290
|
0.00001
|
NM_206933.4(USH2A):c.12640A>G (p.Thr4214Ala)
|
rs145099178
|
0.00001
|
NM_206933.4(USH2A):c.12669T>C (p.Phe4223=)
|
rs1427370363
|
0.00001
|
NM_206933.4(USH2A):c.12696A>G (p.Pro4232=)
|
rs113805451
|
0.00001
|
NM_206933.4(USH2A):c.12738T>A (p.Ala4246=)
|
rs913081394
|
0.00001
|
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)
|
rs397517982
|
0.00001
|
NM_206933.4(USH2A):c.12741G>C (p.Gly4247=)
|
rs766887770
|
0.00001
|
NM_206933.4(USH2A):c.12795T>C (p.Gly4265=)
|
rs1328570546
|
0.00001
|
NM_206933.4(USH2A):c.12810G>A (p.Val4270=)
|
rs1409825126
|
0.00001
|
NM_206933.4(USH2A):c.12819T>C (p.Tyr4273=)
|
rs1362058696
|
0.00001
|
NM_206933.4(USH2A):c.1281T>C (p.Asn427=)
|
rs1446535858
|
0.00001
|
NM_206933.4(USH2A):c.12820G>A (p.Val4274Ile)
|
rs758369437
|
0.00001
|
NM_206933.4(USH2A):c.12828G>A (p.Met4276Ile)
|
rs1174250569
|
0.00001
|
NM_206933.4(USH2A):c.12869A>T (p.Gln4290Leu)
|
rs1481528981
|
0.00001
|
NM_206933.4(USH2A):c.12876T>C (p.Asn4292=)
|
rs762246558
|
0.00001
|
NM_206933.4(USH2A):c.12954C>T (p.Tyr4318=)
|
rs762159022
|
0.00001
|
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His)
|
rs140202956
|
0.00001
|
NM_206933.4(USH2A):c.12962A>G (p.Glu4321Gly)
|
rs936692193
|
0.00001
|
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe)
|
rs750512832
|
0.00001
|
NM_206933.4(USH2A):c.12986A>G (p.Tyr4329Cys)
|
rs371401837
|
0.00001
|
NM_206933.4(USH2A):c.12987T>C (p.Tyr4329=)
|
rs1203365063
|
0.00001
|
NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys)
|
rs1423233510
|
0.00001
|
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val)
|
rs770620234
|
0.00001
|
NM_206933.4(USH2A):c.129G>A (p.Val43=)
|
rs2039690260
|
0.00001
|
NM_206933.4(USH2A):c.12A>G (p.Pro4=)
|
rs1236586396
|
0.00001
|
NM_206933.4(USH2A):c.13011G>A (p.Thr4337=)
|
rs768134583
|
0.00001
|
NM_206933.4(USH2A):c.13084C>T (p.Pro4362Ser)
|
rs763301021
|
0.00001
|
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val)
|
rs727505097
|
0.00001
|
NM_206933.4(USH2A):c.13098C>T (p.Ala4366=)
|
rs759949754
|
0.00001
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_206933.4(USH2A):c.13113A>G (p.Gln4371=)
|
rs773670510
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13148A>C (p.Asn4383Thr)
|
rs1418825414
|
0.00001
|
NM_206933.4(USH2A):c.13230C>T (p.His4410=)
|
rs1157935687
|
0.00001
|
NM_206933.4(USH2A):c.13236G>A (p.Gln4412=)
|
rs1013791595
|
0.00001
|
NM_206933.4(USH2A):c.1327A>C (p.Asn443His)
|
rs775075026
|
0.00001
|
NM_206933.4(USH2A):c.1329-4A>G
|
rs1222644764
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13329G>A (p.Leu4443=)
|
rs1379073603
|
0.00001
|
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu)
|
rs762388072
|
0.00001
|
NM_206933.4(USH2A):c.13381G>T (p.Glu4461Ter)
|
rs553833861
|
0.00001
|
NM_206933.4(USH2A):c.13386C>T (p.Ile4462=)
|
rs187707339
|
0.00001
|
NM_206933.4(USH2A):c.13392G>A (p.Trp4464Ter)
|
rs1219505844
|
0.00001
|
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met)
|
rs1453273341
|
0.00001
|
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys)
|
rs921800139
|
0.00001
|
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)
|
rs878853406
|
0.00001
|
NM_206933.4(USH2A):c.13448G>A (p.Gly4483Glu)
|
rs909121671
|
0.00001
|
NM_206933.4(USH2A):c.1344C>A (p.Ser448=)
|
rs201549921
|
0.00001
|
NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys)
|
rs746221227
|
0.00001
|
NM_206933.4(USH2A):c.13497C>A (p.Leu4499=)
|
rs1657928086
|
0.00001
|
NM_206933.4(USH2A):c.13509G>A (p.Val4503=)
|
rs1657927307
|
0.00001
|
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)
|
rs1268140508
|
0.00001
|
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala)
|
rs774759345
|
0.00001
|
NM_206933.4(USH2A):c.13557G>A (p.Leu4519=)
|
rs1360642172
|
0.00001
|
NM_206933.4(USH2A):c.13568T>C (p.Val4523Ala)
|
rs547421744
|
0.00001
|
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln)
|
rs527644737
|
0.00001
|
NM_206933.4(USH2A):c.13581C>T (p.Thr4527=)
|
rs148184930
|
0.00001
|
NM_206933.4(USH2A):c.13592C>A (p.Ala4531Glu)
|
rs748763603
|
0.00001
|
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg)
|
rs750418422
|
0.00001
|
NM_206933.4(USH2A):c.13620G>A (p.Leu4540=)
|
rs751356779
|
0.00001
|
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro)
|
rs143032902
|
0.00001
|
NM_206933.4(USH2A):c.13650G>A (p.Val4550=)
|
rs771387706
|
0.00001
|
NM_206933.4(USH2A):c.13662T>A (p.Pro4554=)
|
rs137980565
|
0.00001
|
NM_206933.4(USH2A):c.13662T>G (p.Pro4554=)
|
rs137980565
|
0.00001
|
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu)
|
rs772415448
|
0.00001
|
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val)
|
rs1427845684
|
0.00001
|
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=)
|
rs397517986
|
0.00001
|
NM_206933.4(USH2A):c.13714C>T (p.Leu4572=)
|
rs758122542
|
0.00001
|
NM_206933.4(USH2A):c.1371G>A (p.Leu457=)
|
rs1054796812
|
0.00001
|
NM_206933.4(USH2A):c.13738A>T (p.Ile4580Leu)
|
rs766887390
|
0.00001
|
NM_206933.4(USH2A):c.13742del (p.His4581fs)
|
rs1476222580
|
0.00001
|
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)
|
rs1202573136
|
0.00001
|
NM_206933.4(USH2A):c.13781A>G (p.Tyr4594Cys)
|
rs149735061
|
0.00001
|
NM_206933.4(USH2A):c.13802C>T (p.Pro4601Leu)
|
rs1176215017
|
0.00001
|
NM_206933.4(USH2A):c.13811+17C>T
|
rs368044257
|
0.00001
|
NM_206933.4(USH2A):c.13811+1G>A
|
rs1177257719
|
0.00001
|
NM_206933.4(USH2A):c.13811+9C>A
|
rs1328258433
|
0.00001
|
NM_206933.4(USH2A):c.13833G>A (p.Ala4611=)
|
rs760266483
|
0.00001
|
NM_206933.4(USH2A):c.13870T>G (p.Phe4624Val)
|
rs1369860869
|
0.00001
|
NM_206933.4(USH2A):c.13885G>A (p.Glu4629Lys)
|
rs906152033
|
0.00001
|
NM_206933.4(USH2A):c.13888A>G (p.Ile4630Val)
|
rs1357048122
|
0.00001
|
NM_206933.4(USH2A):c.13897T>C (p.Leu4633=)
|
rs780290797
|
0.00001
|
NM_206933.4(USH2A):c.13938A>G (p.Pro4646=)
|
rs1657802510
|
0.00001
|
NM_206933.4(USH2A):c.13947C>T (p.Phe4649=)
|
rs893157830
|
0.00001
|
NM_206933.4(USH2A):c.1394C>T (p.Pro465Leu)
|
rs2037663532
|
0.00001
|
NM_206933.4(USH2A):c.13951C>G (p.Pro4651Ala)
|
rs548761125
|
0.00001
|
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)
|
rs1553250627
|
0.00001
|
NM_206933.4(USH2A):c.13980G>A (p.Pro4660=)
|
rs201127899
|
0.00001
|
NM_206933.4(USH2A):c.13995A>G (p.Gly4665=)
|
rs138384519
|
0.00001
|
NM_206933.4(USH2A):c.14010C>T (p.Tyr4670=)
|
rs775203541
|
0.00001
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
NM_206933.4(USH2A):c.14052C>T (p.Ser4684=)
|
rs1251737222
|
0.00001
|
NM_206933.4(USH2A):c.14061C>A (p.Val4687=)
|
rs753243273
|
0.00001
|
NM_206933.4(USH2A):c.14065A>G (p.Ile4689Val)
|
rs375971791
|
0.00001
|
NM_206933.4(USH2A):c.14086T>C (p.Ser4696Pro)
|
rs751019233
|
0.00001
|
NM_206933.4(USH2A):c.14106A>G (p.Leu4702=)
|
rs769614234
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
NM_206933.4(USH2A):c.14134-3G>A
|
rs752163607
|
0.00001
|
NM_206933.4(USH2A):c.14140G>T (p.Ala4714Ser)
|
rs765164422
|
0.00001
|
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu)
|
rs201631375
|
0.00001
|
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser)
|
rs55838724
|
0.00001
|
NM_206933.4(USH2A):c.14205A>G (p.Pro4735=)
|
rs747671645
|
0.00001
|
NM_206933.4(USH2A):c.14256G>A (p.Val4752=)
|
rs1657033067
|
0.00001
|
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser)
|
rs1254637647
|
0.00001
|
NM_206933.4(USH2A):c.14286C>T (p.Asn4762=)
|
rs750368946
|
0.00001
|
NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala)
|
rs763127023
|
0.00001
|
NM_206933.4(USH2A):c.14324C>A (p.Ala4775Asp)
|
rs768124080
|
0.00001
|
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln)
|
rs1220949681
|
0.00001
|
NM_206933.4(USH2A):c.14335G>A (p.Glu4779Lys)
|
rs769420341
|
0.00001
|
NM_206933.4(USH2A):c.14344-18C>G
|
rs1464586310
|
0.00001
|
NM_206933.4(USH2A):c.14379T>C (p.His4793=)
|
rs756635603
|
0.00001
|
NM_206933.4(USH2A):c.1437C>T (p.Phe479=)
|
rs780470999
|
0.00001
|
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)
|
rs199851839
|
0.00001
|
NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe)
|
rs775307880
|
0.00001
|
NM_206933.4(USH2A):c.14406_14407insTC (p.Ile4803fs)
|
rs1656944247
|
0.00001
|
NM_206933.4(USH2A):c.14415A>G (p.Val4805=)
|
rs1277260250
|
0.00001
|
NM_206933.4(USH2A):c.14418G>A (p.Glu4806=)
|
rs1656943784
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.14457A>C (p.Thr4819=)
|
rs1044359801
|
0.00001
|
NM_206933.4(USH2A):c.14493A>T (p.Gly4831=)
|
rs113716139
|
0.00001
|
NM_206933.4(USH2A):c.14534C>T (p.Ala4845Val)
|
rs1305482689
|
0.00001
|
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp)
|
rs757728612
|
0.00001
|
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter)
|
rs1656936749
|
0.00001
|
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
|
rs374096293
|
0.00001
|
NM_206933.4(USH2A):c.14601C>T (p.His4867=)
|
rs776687971
|
0.00001
|
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met)
|
rs727504686
|
0.00001
|
NM_206933.4(USH2A):c.14637T>C (p.Thr4879=)
|
rs1472687205
|
0.00001
|
NM_206933.4(USH2A):c.1473G>A (p.Gly491=)
|
rs2037660756
|
0.00001
|
NM_206933.4(USH2A):c.14750G>A (p.Ser4917Asn)
|
rs147530266
|
0.00001
|
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys)
|
rs756570931
|
0.00001
|
NM_206933.4(USH2A):c.14791+5G>T
|
rs1235430504
|
0.00001
|
NM_206933.4(USH2A):c.14792-10C>T
|
rs750691897
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
NM_206933.4(USH2A):c.14816C>T (p.Ser4939Leu)
|
rs775948052
|
0.00001
|
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=)
|
rs397517992
|
0.00001
|
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)
|
rs898430789
|
0.00001
|
NM_206933.4(USH2A):c.1482T>C (p.Tyr494=)
|
rs1015357632
|
0.00001
|
NM_206933.4(USH2A):c.14832G>T (p.Leu4944Phe)
|
rs556415914
|
0.00001
|
NM_206933.4(USH2A):c.14842T>C (p.Cys4948Arg)
|
rs916761288
|
0.00001
|
NM_206933.4(USH2A):c.14847G>T (p.Val4949=)
|
rs1308384689
|
0.00001
|
NM_206933.4(USH2A):c.14862C>T (p.Thr4954=)
|
rs1656648079
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys)
|
rs766759858
|
0.00001
|
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=)
|
rs397517995
|
0.00001
|
NM_206933.4(USH2A):c.14963A>G (p.Asp4988Gly)
|
rs759589351
|
0.00001
|
NM_206933.4(USH2A):c.14969-19A>G
|
rs760401848
|
0.00001
|
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe)
|
rs41308423
|
0.00001
|
NM_206933.4(USH2A):c.14996C>T (p.Thr4999Ile)
|
rs1407860955
|
0.00001
|
NM_206933.4(USH2A):c.15018G>A (p.Thr5006=)
|
rs752423613
|
0.00001
|
NM_206933.4(USH2A):c.15021G>A (p.Pro5007=)
|
rs764947147
|
0.00001
|
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile)
|
rs397517996
|
0.00001
|
NM_206933.4(USH2A):c.15045T>C (p.Thr5015=)
|
rs963008494
|
0.00001
|
NM_206933.4(USH2A):c.15052+12A>G
|
rs761555112
|
0.00001
|
NM_206933.4(USH2A):c.15052+8A>G
|
rs773109018
|
0.00001
|
NM_206933.4(USH2A):c.15052+9C>T
|
rs767320819
|
0.00001
|
NM_206933.4(USH2A):c.15053-5T>C
|
rs1298697182
|
0.00001
|
NM_206933.4(USH2A):c.15074G>C (p.Gly5025Ala)
|
rs756803628
|
0.00001
|
NM_206933.4(USH2A):c.15092G>A (p.Arg5031Gln)
|
rs755653202
|
0.00001
|
NM_206933.4(USH2A):c.15094A>G (p.Ser5032Gly)
|
rs112798365
|
0.00001
|
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)
|
rs374144657
|
0.00001
|
NM_206933.4(USH2A):c.15102C>T (p.Ser5034=)
|
rs147916810
|
0.00001
|
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=)
|
rs762610249
|
0.00001
|
NM_206933.4(USH2A):c.15114C>T (p.Tyr5038=)
|
rs759701844
|
0.00001
|
NM_206933.4(USH2A):c.15138A>G (p.Leu5046=)
|
rs1484424118
|
0.00001
|
NM_206933.4(USH2A):c.15142G>A (p.Ala5048Thr)
|
rs371182500
|
0.00001
|
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val)
|
rs748393788
|
0.00001
|
NM_206933.4(USH2A):c.15159C>T (p.Ile5053=)
|
rs745511822
|
0.00001
|
NM_206933.4(USH2A):c.15162G>A (p.Leu5054=)
|
rs780718053
|
0.00001
|
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe)
|
rs542341955
|
0.00001
|
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro)
|
rs376816523
|
0.00001
|
NM_206933.4(USH2A):c.15200del (p.Ile5067fs)
|
rs1295968274
|
0.00001
|
NM_206933.4(USH2A):c.15213A>G (p.Pro5071=)
|
rs374383485
|
0.00001
|
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
NM_206933.4(USH2A):c.15243T>C (p.Pro5081=)
|
rs1245428105
|
0.00001
|
NM_206933.4(USH2A):c.15250A>G (p.Lys5084Glu)
|
rs745567070
|
0.00001
|
NM_206933.4(USH2A):c.15264A>G (p.Pro5088=)
|
rs780777164
|
0.00001
|
NM_206933.4(USH2A):c.15265T>C (p.Leu5089=)
|
rs746439490
|
0.00001
|
NM_206933.4(USH2A):c.15327T>A (p.Ser5109=)
|
rs757291187
|
0.00001
|
NM_206933.4(USH2A):c.15336T>C (p.Pro5112=)
|
rs758971496
|
0.00001
|
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys)
|
rs759899869
|
0.00001
|
NM_206933.4(USH2A):c.15391C>G (p.Gln5131Glu)
|
rs1192363193
|
0.00001
|
NM_206933.4(USH2A):c.15416G>A (p.Gly5139Asp)
|
rs766644731
|
0.00001
|
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)
|
rs768813865
|
0.00001
|
NM_206933.4(USH2A):c.15438C>T (p.Ser5146=)
|
rs762511190
|
0.00001
|
NM_206933.4(USH2A):c.15450C>T (p.Asp5150=)
|
rs775571424
|
0.00001
|
NM_206933.4(USH2A):c.15469T>C (p.Leu5157=)
|
rs1478642346
|
0.00001
|
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)
|
rs1415484067
|
0.00001
|
NM_206933.4(USH2A):c.15483A>G (p.Ser5161=)
|
rs1656155853
|
0.00001
|
NM_206933.4(USH2A):c.15506A>G (p.His5169Arg)
|
rs146085433
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.1551-6T>C
|
rs377636921
|
0.00001
|
NM_206933.4(USH2A):c.1551-9T>C
|
rs995537756
|
0.00001
|
NM_206933.4(USH2A):c.15519+20C>G
|
rs1216278591
|
0.00001
|
NM_206933.4(USH2A):c.15519+7T>C
|
rs879633927
|
0.00001
|
NM_206933.4(USH2A):c.15519+8G>A
|
rs1323809377
|
0.00001
|
NM_206933.4(USH2A):c.15534G>A (p.Glu5178=)
|
rs762874407
|
0.00001
|
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)
|
rs546494522
|
0.00001
|
NM_206933.4(USH2A):c.15555G>A (p.Lys5185=)
|
rs185499779
|
0.00001
|
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys)
|
rs751811618
|
0.00001
|
NM_206933.4(USH2A):c.15600C>T (p.Thr5200=)
|
rs769965528
|
0.00001
|
NM_206933.4(USH2A):c.1614C>T (p.Cys538=)
|
rs1195403033
|
0.00001
|
NM_206933.4(USH2A):c.1644+8C>T
|
rs1313949805
|
0.00001
|
NM_206933.4(USH2A):c.1666T>C (p.Tyr556His)
|
rs1222582781
|
0.00001
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
NM_206933.4(USH2A):c.1685G>A (p.Arg562His)
|
rs756426298
|
0.00001
|
NM_206933.4(USH2A):c.1692T>A (p.Gly564=)
|
rs1357555705
|
0.00001
|
NM_206933.4(USH2A):c.1712A>G (p.Asn571Ser)
|
rs372955644
|
0.00001
|
NM_206933.4(USH2A):c.171A>G (p.Val57=)
|
rs769864111
|
0.00001
|
NM_206933.4(USH2A):c.172T>C (p.Cys58Arg)
|
rs2039689429
|
0.00001
|
NM_206933.4(USH2A):c.1758C>T (p.Tyr586=)
|
rs779929656
|
0.00001
|
NM_206933.4(USH2A):c.1761C>T (p.Asn587=)
|
rs1571668714
|
0.00001
|
NM_206933.4(USH2A):c.1762A>T (p.Ile588Phe)
|
rs148901710
|
0.00001
|
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu)
|
rs1378799607
|
0.00001
|
NM_206933.4(USH2A):c.1776A>G (p.Pro592=)
|
rs369000664
|
0.00001
|
NM_206933.4(USH2A):c.1824T>C (p.Cys608=)
|
rs776982638
|
0.00001
|
NM_206933.4(USH2A):c.1840+19C>G
|
rs886038764
|
0.00001
|
NM_206933.4(USH2A):c.1840+4A>G
|
rs749288291
|
0.00001
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
NM_206933.4(USH2A):c.1857G>C (p.Leu619=)
|
rs1177750734
|
0.00001
|
NM_206933.4(USH2A):c.1864G>C (p.Asp622His)
|
rs1399999249
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)
|
rs781223647
|
0.00001
|
NM_206933.4(USH2A):c.1886G>T (p.Gly629Val)
|
rs754159296
|
0.00001
|
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser)
|
rs759589036
|
0.00001
|
NM_206933.4(USH2A):c.1926C>T (p.Asp642=)
|
rs1159551018
|
0.00001
|
NM_206933.4(USH2A):c.1944T>C (p.Thr648=)
|
rs778993768
|
0.00001
|
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly)
|
rs397518005
|
0.00001
|
NM_206933.4(USH2A):c.1972-4C>T
|
rs772294505
|
0.00001
|
NM_206933.4(USH2A):c.1993A>G (p.Lys665Glu)
|
rs749791724
|
0.00001
|
NM_206933.4(USH2A):c.2031G>T (p.Gln677His)
|
rs753305011
|
0.00001
|
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile)
|
rs377254440
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.2088C>T (p.Cys696=)
|
rs747382637
|
0.00001
|
NM_206933.4(USH2A):c.2100G>T (p.Gly700=)
|
rs750565581
|
0.00001
|
NM_206933.4(USH2A):c.2103A>G (p.Thr701=)
|
rs977434275
|
0.00001
|
NM_206933.4(USH2A):c.2111G>A (p.Gly704Glu)
|
rs1039358341
|
0.00001
|
NM_206933.4(USH2A):c.2121C>T (p.Thr707=)
|
rs751369098
|
0.00001
|
NM_206933.4(USH2A):c.2139C>T (p.Gly713=)
|
rs765293412
|
0.00001
|
NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter)
|
rs1364987785
|
0.00001
|
NM_206933.4(USH2A):c.2167+4C>T
|
rs200638562
|
0.00001
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
NM_206933.4(USH2A):c.2169G>A (p.Gly723=)
|
rs751156464
|
0.00001
|
NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr)
|
rs780709977
|
0.00001
|
NM_206933.4(USH2A):c.2196A>G (p.Gly732=)
|
rs747008835
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.2234A>C (p.Glu745Ala)
|
rs1450983588
|
0.00001
|
NM_206933.4(USH2A):c.2250C>A (p.Asn750Lys)
|
rs2036067730
|
0.00001
|
NM_206933.4(USH2A):c.2289T>C (p.Ser763=)
|
rs1205964046
|
0.00001
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)
|
rs886039449
|
0.00001
|
NM_206933.4(USH2A):c.232T>G (p.Phe78Val)
|
rs775094277
|
0.00001
|
NM_206933.4(USH2A):c.2810-10T>G
|
rs757126689
|
0.00001
|
NM_206933.4(USH2A):c.2825C>T (p.Pro942Leu)
|
rs1482225576
|
0.00001
|
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu)
|
rs779811357
|
0.00001
|
NM_206933.4(USH2A):c.3006T>C (p.Cys1002=)
|
rs769694005
|
0.00001
|
NM_206933.4(USH2A):c.3027C>T (p.Ala1009=)
|
rs1466798179
|
0.00001
|
NM_206933.4(USH2A):c.3041G>C (p.Cys1014Ser)
|
rs760117356
|
0.00001
|
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr)
|
rs1391032458
|
0.00001
|
NM_206933.4(USH2A):c.3111C>T (p.Pro1037=)
|
rs1349789101
|
0.00001
|
NM_206933.4(USH2A):c.3129T>C (p.Asp1043=)
|
rs1363385361
|
0.00001
|
NM_206933.4(USH2A):c.312C>T (p.Gly104=)
|
rs2039686040
|
0.00001
|
NM_206933.4(USH2A):c.3157+15G>T
|
rs376842958
|
0.00001
|
NM_206933.4(USH2A):c.3157+19A>C
|
rs755053376
|
0.00001
|
NM_206933.4(USH2A):c.3158C>A (p.Thr1053Asn)
|
rs1463169820
|
0.00001
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
NM_206933.4(USH2A):c.3186A>G (p.Gly1062=)
|
rs767911557
|
0.00001
|
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)
|
rs397518011
|
0.00001
|
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr)
|
rs751890894
|
0.00001
|
NM_206933.4(USH2A):c.3316+2T>A
|
rs753423216
|
0.00001
|
NM_206933.4(USH2A):c.3317-2A>G
|
rs2034951427
|
0.00001
|
NM_206933.4(USH2A):c.3317-8C>A
|
rs886044611
|
0.00001
|
NM_206933.4(USH2A):c.3338C>T (p.Thr1113Ile)
|
rs753085223
|
0.00001
|
NM_206933.4(USH2A):c.3351A>G (p.Pro1117=)
|
rs946318077
|
0.00001
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
NM_206933.4(USH2A):c.3387T>A (p.Asn1129Lys)
|
rs770929980
|
0.00001
|
NM_206933.4(USH2A):c.3390G>T (p.Val1130=)
|
rs778202718
|
0.00001
|
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser)
|
rs372843685
|
0.00001
|
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)
|
rs1064793287
|
0.00001
|
NM_206933.4(USH2A):c.3446A>T (p.Glu1149Val)
|
rs1318186049
|
0.00001
|
NM_206933.4(USH2A):c.3477T>C (p.Pro1159=)
|
rs569174948
|
0.00001
|
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)
|
rs139156019
|
0.00001
|
NM_206933.4(USH2A):c.348G>A (p.Leu116=)
|
rs759382447
|
0.00001
|
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)
|
rs727503734
|
0.00001
|
NM_206933.4(USH2A):c.3529G>T (p.Gly1177Cys)
|
rs923020422
|
0.00001
|
NM_206933.4(USH2A):c.3542A>C (p.Lys1181Thr)
|
rs753695973
|
0.00001
|
NM_206933.4(USH2A):c.3561C>T (p.Ala1187=)
|
rs150494652
|
0.00001
|
NM_206933.4(USH2A):c.358G>A (p.Ala120Thr)
|
rs1017927571
|
0.00001
|
NM_206933.4(USH2A):c.3598G>A (p.Gly1200Ser)
|
rs1191555571
|
0.00001
|
NM_206933.4(USH2A):c.3630G>A (p.Leu1210=)
|
rs747713862
|
0.00001
|
NM_206933.4(USH2A):c.3636A>G (p.Pro1212=)
|
rs1338709231
|
0.00001
|
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)
|
rs202247801
|
0.00001
|
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr)
|
rs761752531
|
0.00001
|
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
|
rs768461447
|
0.00001
|
NM_206933.4(USH2A):c.3746C>A (p.Pro1249His)
|
rs2034937106
|
0.00001
|
NM_206933.4(USH2A):c.3759A>G (p.Lys1253=)
|
rs555590539
|
0.00001
|
NM_206933.4(USH2A):c.3762C>A (p.Ile1254=)
|
rs533691745
|
0.00001
|
NM_206933.4(USH2A):c.3811+17G>A
|
rs746510391
|
0.00001
|
NM_206933.4(USH2A):c.3812-2A>G
|
rs758733024
|
0.00001
|
NM_206933.4(USH2A):c.3849G>T (p.Leu1283=)
|
rs2034907732
|
0.00001
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
NM_206933.4(USH2A):c.3887T>C (p.Val1296Ala)
|
rs552551256
|
0.00001
|
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn)
|
rs772408328
|
0.00001
|
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu)
|
rs780574336
|
0.00001
|
NM_206933.4(USH2A):c.3921A>G (p.Ser1307=)
|
rs376678203
|
0.00001
|
NM_206933.4(USH2A):c.3933G>A (p.Ser1311=)
|
rs560861284
|
0.00001
|
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser)
|
rs145459379
|
0.00001
|
NM_206933.4(USH2A):c.3955C>A (p.Pro1319Thr)
|
rs773133837
|
0.00001
|
NM_206933.4(USH2A):c.3972A>G (p.Thr1324=)
|
rs1431799224
|
0.00001
|
NM_206933.4(USH2A):c.3977T>C (p.Ile1326Thr)
|
rs1439905146
|
0.00001
|
NM_206933.4(USH2A):c.3991C>T (p.Pro1331Ser)
|
rs149339941
|
0.00001
|
NM_206933.4(USH2A):c.3993A>G (p.Pro1331=)
|
rs780048824
|
0.00001
|
NM_206933.4(USH2A):c.4001A>G (p.Lys1334Arg)
|
rs770323958
|
0.00001
|
NM_206933.4(USH2A):c.4043T>C (p.Val1348Ala)
|
rs375465641
|
0.00001
|
NM_206933.4(USH2A):c.4068A>G (p.Arg1356=)
|
rs1379695165
|
0.00001
|
NM_206933.4(USH2A):c.406T>A (p.Phe136Ile)
|
rs1165457274
|
0.00001
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00001
|
NM_206933.4(USH2A):c.4086del (p.Val1363fs)
|
rs2034854568
|
0.00001
|
NM_206933.4(USH2A):c.4089A>C (p.Val1363=)
|
rs764459246
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.4164T>C (p.Asn1388=)
|
rs1392218317
|
0.00001
|
NM_206933.4(USH2A):c.4251+12T>G
|
rs922504735
|
0.00001
|
NM_206933.4(USH2A):c.4251+17C>A
|
rs750554151
|
0.00001
|
NM_206933.4(USH2A):c.4252-8C>T
|
rs2034691324
|
0.00001
|
NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro)
|
rs373130157
|
0.00001
|
NM_206933.4(USH2A):c.4287C>T (p.Tyr1429=)
|
rs1436411297
|
0.00001
|
NM_206933.4(USH2A):c.428A>G (p.Lys143Arg)
|
rs766183914
|
0.00001
|
NM_206933.4(USH2A):c.4313G>A (p.Arg1438Lys)
|
rs876657627
|
0.00001
|
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser)
|
rs776039417
|
0.00001
|
NM_206933.4(USH2A):c.4325T>C (p.Phe1442Ser)
|
rs766108245
|
0.00001
|
NM_206933.4(USH2A):c.4343A>G (p.Asn1448Ser)
|
rs200691730
|
0.00001
|
NM_206933.4(USH2A):c.4356T>C (p.Cys1452=)
|
rs1259579664
|
0.00001
|
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu)
|
rs2034688425
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro)
|
rs757315203
|
0.00001
|
NM_206933.4(USH2A):c.4397-19G>A
|
rs1422101261
|
0.00001
|
NM_206933.4(USH2A):c.441A>G (p.Ser147=)
|
rs773525654
|
0.00001
|
NM_206933.4(USH2A):c.4470T>C (p.Pro1490=)
|
rs1288968565
|
0.00001
|
NM_206933.4(USH2A):c.4490C>T (p.Ser1497Phe)
|
rs755482100
|
0.00001
|
NM_206933.4(USH2A):c.4491T>C (p.Ser1497=)
|
rs2034357479
|
0.00001
|
NM_206933.4(USH2A):c.4525C>T (p.Leu1509=)
|
rs753911727
|
0.00001
|
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)
|
rs373599651
|
0.00001
|
NM_206933.4(USH2A):c.4556G>A (p.Gly1519Glu)
|
rs776483371
|
0.00001
|
NM_206933.4(USH2A):c.4561C>T (p.Arg1521Cys)
|
rs773526991
|
0.00001
|
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
|
rs769198746
|
0.00001
|
NM_206933.4(USH2A):c.4595G>A (p.Ser1532Asn)
|
rs112269780
|
0.00001
|
NM_206933.4(USH2A):c.4604A>G (p.His1535Arg)
|
rs1392389263
|
0.00001
|
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
NM_206933.4(USH2A):c.4628-17C>T
|
rs766397153
|
0.00001
|
NM_206933.4(USH2A):c.4638C>T (p.Ala1546=)
|
rs750235751
|
0.00001
|
NM_206933.4(USH2A):c.4687C>T (p.Pro1563Ser)
|
rs370391920
|
0.00001
|
NM_206933.4(USH2A):c.4713A>G (p.Ala1571=)
|
rs748794689
|
0.00001
|
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His)
|
rs552928943
|
0.00001
|
NM_206933.4(USH2A):c.4740T>C (p.Tyr1580=)
|
rs898877791
|
0.00001
|
NM_206933.4(USH2A):c.4752T>A (p.Asp1584Glu)
|
rs1411201130
|
0.00001
|
NM_206933.4(USH2A):c.4812T>C (p.Asp1604=)
|
rs2032222263
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
NM_206933.4(USH2A):c.4828A>G (p.Ile1610Val)
|
rs1290492076
|
0.00001
|
NM_206933.4(USH2A):c.4836T>C (p.Ala1612=)
|
rs770773233
|
0.00001
|
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)
|
rs397518017
|
0.00001
|
NM_206933.4(USH2A):c.4837dup (p.Ile1613fs)
|
rs2032220637
|
0.00001
|
NM_206933.4(USH2A):c.485+8G>C
|
rs756583534
|
0.00001
|
NM_206933.4(USH2A):c.4870G>T (p.Asp1624Tyr)
|
rs1418438946
|
0.00001
|
NM_206933.4(USH2A):c.4882A>T (p.Thr1628Ser)
|
rs794727386
|
0.00001
|
NM_206933.4(USH2A):c.4885+1G>A
|
rs150896588
|
0.00001
|
NM_206933.4(USH2A):c.4885+5G>A
|
rs988696340
|
0.00001
|
NM_206933.4(USH2A):c.4885+8C>T
|
rs750892911
|
0.00001
|
NM_206933.4(USH2A):c.4956G>A (p.Pro1652=)
|
rs201924343
|
0.00001
|
NM_206933.4(USH2A):c.4987+10G>A
|
rs565572870
|
0.00001
|
NM_206933.4(USH2A):c.5002G>A (p.Gly1668Ser)
|
rs1487579070
|
0.00001
|
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)
|
rs1265349835
|
0.00001
|
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)
|
rs1162305984
|
0.00001
|
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp)
|
rs746010533
|
0.00001
|
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu)
|
rs144213699
|
0.00001
|
NM_206933.4(USH2A):c.5070T>G (p.Pro1690=)
|
rs1490986868
|
0.00001
|
NM_206933.4(USH2A):c.5111A>T (p.Asn1704Ile)
|
rs764080143
|
0.00001
|
NM_206933.4(USH2A):c.5115C>T (p.Ser1705=)
|
rs139932353
|
0.00001
|
NM_206933.4(USH2A):c.5116T>G (p.Trp1706Gly)
|
rs764884175
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.5136A>G (p.Ser1712=)
|
rs143950713
|
0.00001
|
NM_206933.4(USH2A):c.5175G>A (p.Leu1725=)
|
rs1571946849
|
0.00001
|
NM_206933.4(USH2A):c.5187A>G (p.Pro1729=)
|
rs573549135
|
0.00001
|
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys)
|
rs375519871
|
0.00001
|
NM_206933.4(USH2A):c.520G>A (p.Val174Met)
|
rs1414123599
|
0.00001
|
NM_206933.4(USH2A):c.5239G>A (p.Asp1747Asn)
|
rs1174148752
|
0.00001
|
NM_206933.4(USH2A):c.5246T>C (p.Leu1749Ser)
|
rs1558249837
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.528A>G (p.Lys176=)
|
rs751865771
|
0.00001
|
NM_206933.4(USH2A):c.5298+5G>A
|
rs1176314553
|
0.00001
|
NM_206933.4(USH2A):c.5314G>A (p.Gly1772Arg)
|
rs763043150
|
0.00001
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
NM_206933.4(USH2A):c.5339C>T (p.Thr1780Ile)
|
rs1430931231
|
0.00001
|
NM_206933.4(USH2A):c.5359G>A (p.Val1787Met)
|
rs1558246687
|
0.00001
|
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu)
|
rs527598451
|
0.00001
|
NM_206933.4(USH2A):c.5379A>C (p.Leu1793=)
|
rs199938570
|
0.00001
|
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5434A>T (p.Ile1812Leu)
|
rs372590222
|
0.00001
|
NM_206933.4(USH2A):c.5436A>G (p.Ile1812Met)
|
rs760159684
|
0.00001
|
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)
|
rs752992414
|
0.00001
|
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly)
|
rs940913250
|
0.00001
|
NM_206933.4(USH2A):c.5469A>G (p.Ala1823=)
|
rs1480384486
|
0.00001
|
NM_206933.4(USH2A):c.546A>G (p.Lys182=)
|
rs775722650
|
0.00001
|
NM_206933.4(USH2A):c.5478C>T (p.Ser1826=)
|
rs769191074
|
0.00001
|
NM_206933.4(USH2A):c.5480G>C (p.Gly1827Ala)
|
rs2031817738
|
0.00001
|
NM_206933.4(USH2A):c.553A>G (p.Met185Val)
|
rs770266757
|
0.00001
|
NM_206933.4(USH2A):c.5550T>C (p.Tyr1850=)
|
rs763831329
|
0.00001
|
NM_206933.4(USH2A):c.5559_5561del (p.Leu1853_Cys1854delinsPhe)
|
rs2031812954
|
0.00001
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
NM_206933.4(USH2A):c.5573-19A>G
|
rs1229686933
|
0.00001
|
NM_206933.4(USH2A):c.5573-834A>G
|
rs1558244152
|
0.00001
|
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly)
|
rs760543320
|
0.00001
|
NM_206933.4(USH2A):c.5596G>A (p.Val1866Ile)
|
rs1481712505
|
0.00001
|
NM_206933.4(USH2A):c.5598T>C (p.Val1866=)
|
rs771810761
|
0.00001
|
NM_206933.4(USH2A):c.5601A>G (p.Lys1867=)
|
rs1192917184
|
0.00001
|
NM_206933.4(USH2A):c.5610G>C (p.Arg1870=)
|
rs369972310
|
0.00001
|
NM_206933.4(USH2A):c.5616T>G (p.Ala1872=)
|
rs1343726911
|
0.00001
|
NM_206933.4(USH2A):c.5649T>C (p.Ala1883=)
|
rs767488232
|
0.00001
|
NM_206933.4(USH2A):c.5660A>G (p.Asn1887Ser)
|
rs1241916861
|
0.00001
|
NM_206933.4(USH2A):c.5674C>T (p.Leu1892=)
|
rs571844190
|
0.00001
|
NM_206933.4(USH2A):c.5732G>A (p.Gly1911Glu)
|
rs763747123
|
0.00001
|
NM_206933.4(USH2A):c.5737G>C (p.Glu1913Gln)
|
rs762837293
|
0.00001
|
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys)
|
rs529355834
|
0.00001
|
NM_206933.4(USH2A):c.5769T>G (p.Pro1923=)
|
rs2031615664
|
0.00001
|
NM_206933.4(USH2A):c.5776+13T>C
|
rs758654199
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.5776+5T>A
|
rs1164972172
|
0.00001
|
NM_206933.4(USH2A):c.5776+7T>G
|
rs397518020
|
0.00001
|
NM_206933.4(USH2A):c.5787T>C (p.Tyr1929=)
|
rs1446277303
|
0.00001
|
NM_206933.4(USH2A):c.5801C>T (p.Ser1934Leu)
|
rs202075825
|
0.00001
|
NM_206933.4(USH2A):c.5817A>G (p.Ser1939=)
|
rs779180333
|
0.00001
|
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)
|
rs751130485
|
0.00001
|
NM_206933.4(USH2A):c.5858-12A>G
|
rs727503727
|
0.00001
|
NM_206933.4(USH2A):c.5858-8C>T
|
rs774808731
|
0.00001
|
NM_206933.4(USH2A):c.5874A>G (p.Pro1958=)
|
rs746686260
|
0.00001
|
NM_206933.4(USH2A):c.5904A>T (p.Gly1968=)
|
rs767671817
|
0.00001
|
NM_206933.4(USH2A):c.5945G>A (p.Gly1982Asp)
|
rs765590481
|
0.00001
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
NM_206933.4(USH2A):c.5976T>C (p.Tyr1992=)
|
rs779826128
|
0.00001
|
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys)
|
rs777886737
|
0.00001
|
NM_206933.4(USH2A):c.6032A>G (p.Asn2011Ser)
|
rs1371723634
|
0.00001
|
NM_206933.4(USH2A):c.6048A>G (p.Thr2016=)
|
rs995870865
|
0.00001
|
NM_206933.4(USH2A):c.6050-1G>A
|
rs1035024403
|
0.00001
|
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp)
|
rs397518024
|
0.00001
|
NM_206933.4(USH2A):c.6093C>G (p.Thr2031=)
|
rs149518407
|
0.00001
|
NM_206933.4(USH2A):c.6119G>C (p.Cys2040Ser)
|
rs748371326
|
0.00001
|
NM_206933.4(USH2A):c.6153T>A (p.Thr2051=)
|
rs754250829
|
0.00001
|
NM_206933.4(USH2A):c.6164-7T>C
|
rs753480359
|
0.00001
|
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
NM_206933.4(USH2A):c.6245A>C (p.Asn2082Thr)
|
rs778263278
|
0.00001
|
NM_206933.4(USH2A):c.626A>C (p.Lys209Thr)
|
rs751814860
|
0.00001
|
NM_206933.4(USH2A):c.6306G>A (p.Glu2102=)
|
rs1349575922
|
0.00001
|
NM_206933.4(USH2A):c.6325+10C>T
|
rs1571913764
|
0.00001
|
NM_206933.4(USH2A):c.6332C>A (p.Ala2111Glu)
|
rs373761608
|
0.00001
|
NM_206933.4(USH2A):c.6341C>T (p.Thr2114Ile)
|
rs777813142
|
0.00001
|
NM_206933.4(USH2A):c.6416C>T (p.Ala2139Val)
|
rs1235098752
|
0.00001
|
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala)
|
rs754703964
|
0.00001
|
NM_206933.4(USH2A):c.6436G>A (p.Val2146Met)
|
rs766466542
|
0.00001
|
NM_206933.4(USH2A):c.645T>C (p.Ser215=)
|
rs1250739019
|
0.00001
|
NM_206933.4(USH2A):c.6480C>T (p.His2160=)
|
rs763185895
|
0.00001
|
NM_206933.4(USH2A):c.6481A>G (p.Ile2161Val)
|
rs146282882
|
0.00001
|
NM_206933.4(USH2A):c.651+8A>C
|
rs1236831129
|
0.00001
|
NM_206933.4(USH2A):c.651G>T (p.Gln217His)
|
rs758696021
|
0.00001
|
NM_206933.4(USH2A):c.652-9T>G
|
rs1231791432
|
0.00001
|
NM_206933.4(USH2A):c.6535T>C (p.Tyr2179His)
|
rs779772574
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6549T>C (p.His2183=)
|
rs781353347
|
0.00001
|
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala)
|
rs887441664
|
0.00001
|
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter)
|
rs769609970
|
0.00001
|
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser)
|
rs1047559421
|
0.00001
|
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)
|
rs755612537
|
0.00001
|
NM_206933.4(USH2A):c.6673G>A (p.Gly2225Arg)
|
rs138340157
|
0.00001
|
NM_206933.4(USH2A):c.6674G>A (p.Gly2225Glu)
|
rs763755886
|
0.00001
|
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys)
|
rs774634733
|
0.00001
|
NM_206933.4(USH2A):c.6723C>T (p.Pro2241=)
|
rs1238280246
|
0.00001
|
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr)
|
rs750302027
|
0.00001
|
NM_206933.4(USH2A):c.6761C>T (p.Pro2254Leu)
|
rs1230579970
|
0.00001
|
NM_206933.4(USH2A):c.6762T>C (p.Pro2254=)
|
rs1254773343
|
0.00001
|
NM_206933.4(USH2A):c.6779C>A (p.Ser2260Tyr)
|
rs1349610745
|
0.00001
|
NM_206933.4(USH2A):c.6780C>G (p.Ser2260=)
|
rs762148018
|
0.00001
|
NM_206933.4(USH2A):c.6786T>C (p.Thr2262=)
|
rs774687747
|
0.00001
|
NM_206933.4(USH2A):c.6791C>G (p.Pro2264Arg)
|
rs1668037653
|
0.00001
|
NM_206933.4(USH2A):c.6805+16T>C
|
rs781662804
|
0.00001
|
NM_206933.4(USH2A):c.6805+20C>G
|
rs747837029
|
0.00001
|
NM_206933.4(USH2A):c.6806-10A>G
|
rs534542622
|
0.00001
|
NM_206933.4(USH2A):c.6806-3C>T
|
rs775703386
|
0.00001
|
NM_206933.4(USH2A):c.6806-4C>T
|
rs1338358003
|
0.00001
|
NM_206933.4(USH2A):c.6816G>A (p.Thr2272=)
|
rs946614191
|
0.00001
|
NM_206933.4(USH2A):c.681C>T (p.Ile227=)
|
rs371310200
|
0.00001
|
NM_206933.4(USH2A):c.6828A>G (p.Leu2276=)
|
rs1375426330
|
0.00001
|
NM_206933.4(USH2A):c.6831T>C (p.Tyr2277=)
|
rs1226437991
|
0.00001
|
NM_206933.4(USH2A):c.6843A>G (p.Ile2281Met)
|
rs1195257429
|
0.00001
|
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser)
|
rs528089082
|
0.00001
|
NM_206933.4(USH2A):c.6872A>G (p.Tyr2291Cys)
|
rs148817340
|
0.00001
|
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser)
|
rs150634036
|
0.00001
|
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe)
|
rs766809837
|
0.00001
|
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)
|
rs748983904
|
0.00001
|
NM_206933.4(USH2A):c.6939T>C (p.Gly2313=)
|
rs1462382161
|
0.00001
|
NM_206933.4(USH2A):c.6956del (p.Leu2319fs)
|
rs1201446573
|
0.00001
|
NM_206933.4(USH2A):c.6958-10A>G
|
rs727504213
|
0.00001
|
NM_206933.4(USH2A):c.6958-8A>T
|
rs769264662
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln)
|
rs772014718
|
0.00001
|
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=)
|
rs397518028
|
0.00001
|
NM_206933.4(USH2A):c.6988G>A (p.Glu2330Lys)
|
rs926377709
|
0.00001
|
NM_206933.4(USH2A):c.6994A>G (p.Thr2332Ala)
|
rs1667317930
|
0.00001
|
NM_206933.4(USH2A):c.7017A>G (p.Thr2339=)
|
rs1426861450
|
0.00001
|
NM_206933.4(USH2A):c.7019A>C (p.Gln2340Pro)
|
rs751937450
|
0.00001
|
NM_206933.4(USH2A):c.7019A>T (p.Gln2340Leu)
|
rs751937450
|
0.00001
|
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met)
|
rs727503721
|
0.00001
|
NM_206933.4(USH2A):c.7051G>A (p.Ala2351Thr)
|
rs886042178
|
0.00001
|
NM_206933.4(USH2A):c.705A>G (p.Thr235=)
|
rs767897482
|
0.00001
|
NM_206933.4(USH2A):c.7077A>G (p.Leu2359=)
|
rs1311422122
|
0.00001
|
NM_206933.4(USH2A):c.7105T>G (p.Phe2369Val)
|
rs1475753019
|
0.00001
|
NM_206933.4(USH2A):c.7131C>T (p.Asn2377=)
|
rs758699151
|
0.00001
|
NM_206933.4(USH2A):c.7138C>T (p.Leu2380Phe)
|
rs1308006303
|
0.00001
|
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe)
|
rs199825458
|
0.00001
|
NM_206933.4(USH2A):c.7206G>A (p.Leu2402=)
|
rs201731826
|
0.00001
|
NM_206933.4(USH2A):c.7218C>A (p.Thr2406=)
|
rs372817698
|
0.00001
|
NM_206933.4(USH2A):c.7230A>T (p.Val2410=)
|
rs202162396
|
0.00001
|
NM_206933.4(USH2A):c.7261T>C (p.Leu2421=)
|
rs1419134559
|
0.00001
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
0.00001
|
NM_206933.4(USH2A):c.7301-14G>T
|
rs368044339
|
0.00001
|
NM_206933.4(USH2A):c.7301-1G>A
|
rs1438496892
|
0.00001
|
NM_206933.4(USH2A):c.7314G>C (p.Val2438=)
|
rs917178849
|
0.00001
|
NM_206933.4(USH2A):c.7325G>C (p.Arg2442Thr)
|
rs1367430538
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.7376C>G (p.Ala2459Gly)
|
rs1281618285
|
0.00001
|
NM_206933.4(USH2A):c.7386C>T (p.Asn2462=)
|
rs149272066
|
0.00001
|
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr)
|
rs374569301
|
0.00001
|
NM_206933.4(USH2A):c.7411C>T (p.Leu2471Phe)
|
rs775824145
|
0.00001
|
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His)
|
rs1290644032
|
0.00001
|
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile)
|
rs876658115
|
0.00001
|
NM_206933.4(USH2A):c.7437C>T (p.Thr2479=)
|
rs1193429981
|
0.00001
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00001
|
NM_206933.4(USH2A):c.7452-3C>T
|
rs768233894
|
0.00001
|
NM_206933.4(USH2A):c.7461C>T (p.Ser2487=)
|
rs769678033
|
0.00001
|
NM_206933.4(USH2A):c.7485T>C (p.Tyr2495=)
|
rs752783797
|
0.00001
|
NM_206933.4(USH2A):c.7489G>A (p.Val2497Met)
|
rs1665452444
|
0.00001
|
NM_206933.4(USH2A):c.7542T>C (p.Asn2514=)
|
rs1665449794
|
0.00001
|
NM_206933.4(USH2A):c.7557A>G (p.Ala2519=)
|
rs759738544
|
0.00001
|
NM_206933.4(USH2A):c.7594+2del
|
rs762608746
|
0.00001
|
NM_206933.4(USH2A):c.7596A>G (p.Lys2532=)
|
rs201084527
|
0.00001
|
NM_206933.4(USH2A):c.7650G>A (p.Leu2550=)
|
rs1665141443
|
0.00001
|
NM_206933.4(USH2A):c.7681G>A (p.Gly2561Arg)
|
rs781685696
|
0.00001
|
NM_206933.4(USH2A):c.7692C>A (p.Thr2564=)
|
rs1396131331
|
0.00001
|
NM_206933.4(USH2A):c.7728G>C (p.Leu2576Phe)
|
rs151037142
|
0.00001
|
NM_206933.4(USH2A):c.7824T>C (p.Cys2608=)
|
rs369033553
|
0.00001
|
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg)
|
rs397518032
|
0.00001
|
NM_206933.4(USH2A):c.7856C>A (p.Thr2619Lys)
|
rs778372214
|
0.00001
|
NM_206933.4(USH2A):c.7880T>A (p.Ile2627Asn)
|
rs745480430
|
0.00001
|
NM_206933.4(USH2A):c.7884A>G (p.Pro2628=)
|
rs780785198
|
0.00001
|
NM_206933.4(USH2A):c.7952A>G (p.Asn2651Ser)
|
rs745559540
|
0.00001
|
NM_206933.4(USH2A):c.799G>T (p.Val267Phe)
|
rs1240261228
|
0.00001
|
NM_206933.4(USH2A):c.8009C>G (p.Thr2670Ser)
|
rs758382005
|
0.00001
|
NM_206933.4(USH2A):c.800T>C (p.Val267Ala)
|
rs1047582820
|
0.00001
|
NM_206933.4(USH2A):c.8010T>C (p.Thr2670=)
|
rs1336722567
|
0.00001
|
NM_206933.4(USH2A):c.8019G>A (p.Val2673=)
|
rs142601401
|
0.00001
|
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn)
|
rs754677752
|
0.00001
|
NM_206933.4(USH2A):c.8026C>T (p.Pro2676Ser)
|
rs1251197997
|
0.00001
|
NM_206933.4(USH2A):c.8027C>T (p.Pro2676Leu)
|
rs754100765
|
0.00001
|
NM_206933.4(USH2A):c.8095C>T (p.Arg2699Trp)
|
rs771526931
|
0.00001
|
NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile)
|
rs778655083
|
0.00001
|
NM_206933.4(USH2A):c.8102T>C (p.Leu2701Pro)
|
rs982853731
|
0.00001
|
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu)
|
rs397518034
|
0.00001
|
NM_206933.4(USH2A):c.8145A>G (p.Val2715=)
|
rs761743985
|
0.00001
|
NM_206933.4(USH2A):c.8154C>T (p.Thr2718=)
|
rs1449390237
|
0.00001
|
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)
|
rs200712760
|
0.00001
|
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln)
|
rs267598376
|
0.00001
|
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)
|
rs549796389
|
0.00001
|
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)
|
rs397518035
|
0.00001
|
NM_206933.4(USH2A):c.8205G>A (p.Leu2735=)
|
rs1353097584
|
0.00001
|
NM_206933.4(USH2A):c.8211C>T (p.Pro2737=)
|
rs576995782
|
0.00001
|
NM_206933.4(USH2A):c.8223+7T>C
|
rs1220194737
|
0.00001
|
NM_206933.4(USH2A):c.8224-9T>C
|
rs777750689
|
0.00001
|
NM_206933.4(USH2A):c.8229T>C (p.Thr2743=)
|
rs944889931
|
0.00001
|
NM_206933.4(USH2A):c.822A>G (p.Arg274=)
|
rs781616961
|
0.00001
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
NM_206933.4(USH2A):c.8250G>C (p.Gln2750His)
|
rs1315503316
|
0.00001
|
NM_206933.4(USH2A):c.8276T>G (p.Ile2759Ser)
|
rs949022186
|
0.00001
|
NM_206933.4(USH2A):c.82A>G (p.Ile28Val)
|
rs753515909
|
0.00001
|
NM_206933.4(USH2A):c.8324T>C (p.Val2775Ala)
|
rs767155952
|
0.00001
|
NM_206933.4(USH2A):c.8380G>A (p.Val2794Ile)
|
rs373984123
|
0.00001
|
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg)
|
rs397518037
|
0.00001
|
NM_206933.4(USH2A):c.8401G>T (p.Gly2801Trp)
|
rs1158558641
|
0.00001
|
NM_206933.4(USH2A):c.849-3C>T
|
rs774392934
|
0.00001
|
NM_206933.4(USH2A):c.849-5C>T
|
rs761621773
|
0.00001
|
NM_206933.4(USH2A):c.8514G>T (p.Val2838=)
|
rs1283761401
|
0.00001
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
NM_206933.4(USH2A):c.8549C>T (p.Pro2850Leu)
|
rs762053600
|
0.00001
|
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)
|
rs749452910
|
0.00001
|
NM_206933.4(USH2A):c.860A>C (p.Glu287Ala)
|
rs775281649
|
0.00001
|
NM_206933.4(USH2A):c.8622T>C (p.Asn2874=)
|
rs775523669
|
0.00001
|
NM_206933.4(USH2A):c.8640T>C (p.Tyr2880=)
|
rs372464874
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys)
|
rs1369414978
|
0.00001
|
NM_206933.4(USH2A):c.8682-8C>T
|
rs1194081342
|
0.00001
|
NM_206933.4(USH2A):c.8682G>A (p.Arg2894=)
|
rs773808835
|
0.00001
|
NM_206933.4(USH2A):c.8725G>A (p.Gly2909Ser)
|
rs758347918
|
0.00001
|
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu)
|
rs373811292
|
0.00001
|
NM_206933.4(USH2A):c.8736G>A (p.Pro2912=)
|
rs1040698211
|
0.00001
|
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)
|
rs762358589
|
0.00001
|
NM_206933.4(USH2A):c.8799G>A (p.Ala2933=)
|
rs756401705
|
0.00001
|
NM_206933.4(USH2A):c.8811C>A (p.Asn2937Lys)
|
rs544710050
|
0.00001
|
NM_206933.4(USH2A):c.8817A>T (p.Thr2939=)
|
rs752054425
|
0.00001
|
NM_206933.4(USH2A):c.8824G>A (p.Asp2942Asn)
|
rs763232931
|
0.00001
|
NM_206933.4(USH2A):c.8830A>C (p.Arg2944=)
|
rs1422830491
|
0.00001
|
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)
|
rs760302201
|
0.00001
|
NM_206933.4(USH2A):c.8842C>T (p.Pro2948Ser)
|
rs142315587
|
0.00001
|
NM_206933.4(USH2A):c.8845+2T>G
|
rs1441350225
|
0.00001
|
NM_206933.4(USH2A):c.8846-4A>G
|
rs746090216
|
0.00001
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
NM_206933.4(USH2A):c.8862A>G (p.Gln2954=)
|
rs779274537
|
0.00001
|
NM_206933.4(USH2A):c.8868A>G (p.Glu2956=)
|
rs755315304
|
0.00001
|
NM_206933.4(USH2A):c.8871T>C (p.Val2957=)
|
rs750049598
|
0.00001
|
NM_206933.4(USH2A):c.8883A>G (p.Thr2961=)
|
rs767268759
|
0.00001
|
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)
|
rs761359720
|
0.00001
|
NM_206933.4(USH2A):c.8886T>C (p.Leu2962=)
|
rs1453036509
|
0.00001
|
NM_206933.4(USH2A):c.8910C>T (p.Asn2970=)
|
rs148603505
|
0.00001
|
NM_206933.4(USH2A):c.8923A>G (p.Ile2975Val)
|
rs867946356
|
0.00001
|
NM_206933.4(USH2A):c.8946T>C (p.His2982=)
|
rs771229463
|
0.00001
|
NM_206933.4(USH2A):c.8949C>T (p.Val2983=)
|
rs1663830803
|
0.00001
|
NM_206933.4(USH2A):c.8979T>C (p.Tyr2993=)
|
rs369160848
|
0.00001
|
NM_206933.4(USH2A):c.897A>G (p.Gln299=)
|
rs201062965
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.8985C>G (p.Ile2995Met)
|
rs901891136
|
0.00001
|
NM_206933.4(USH2A):c.8991C>T (p.Ile2997=)
|
rs1215269876
|
0.00001
|
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)
|
rs559922535
|
0.00001
|
NM_206933.4(USH2A):c.9006A>C (p.Gly3002=)
|
rs1663828830
|
0.00001
|
NM_206933.4(USH2A):c.9021C>T (p.Asn3007=)
|
rs1327521692
|
0.00001
|
NM_206933.4(USH2A):c.9042C>T (p.Thr3014=)
|
rs563658742
|
0.00001
|
NM_206933.4(USH2A):c.9046T>C (p.Cys3016Arg)
|
rs1472655556
|
0.00001
|
NM_206933.4(USH2A):c.9055+9A>G
|
rs1222457564
|
0.00001
|
NM_206933.4(USH2A):c.9056-2A>G
|
rs754970095
|
0.00001
|
NM_206933.4(USH2A):c.9056-8A>T
|
rs936301056
|
0.00001
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)
|
rs748465849
|
0.00001
|
NM_206933.4(USH2A):c.9093C>G (p.Ile3031Met)
|
rs774531184
|
0.00001
|
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser)
|
rs768579751
|
0.00001
|
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys)
|
rs770418427
|
0.00001
|
NM_206933.4(USH2A):c.9117C>A (p.Ile3039=)
|
rs781670176
|
0.00001
|
NM_206933.4(USH2A):c.9141T>C (p.Asn3047=)
|
rs569962519
|
0.00001
|
NM_206933.4(USH2A):c.9142G>A (p.Gly3048Ser)
|
rs1260877507
|
0.00001
|
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp)
|
rs766298464
|
0.00001
|
NM_206933.4(USH2A):c.9185A>G (p.Tyr3062Cys)
|
rs1368683731
|
0.00001
|
NM_206933.4(USH2A):c.91A>G (p.Thr31Ala)
|
rs373207201
|
0.00001
|
NM_206933.4(USH2A):c.9243T>G (p.Thr3081=)
|
rs747852849
|
0.00001
|
NM_206933.4(USH2A):c.9258+10T>C
|
rs756085384
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9258+8C>T
|
rs1440810218
|
0.00001
|
NM_206933.4(USH2A):c.9259-14A>C
|
rs561590242
|
0.00001
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
NM_206933.4(USH2A):c.9276A>C (p.Ile3092=)
|
rs757205145
|
0.00001
|
NM_206933.4(USH2A):c.9285C>T (p.Cys3095=)
|
rs777589855
|
0.00001
|
NM_206933.4(USH2A):c.9299G>A (p.Gly3100Glu)
|
rs533188575
|
0.00001
|
NM_206933.4(USH2A):c.9303C>A (p.Thr3101=)
|
rs564588972
|
0.00001
|
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)
|
rs397518046
|
0.00001
|
NM_206933.4(USH2A):c.930G>A (p.Arg310=)
|
rs762904029
|
0.00001
|
NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr)
|
rs140260219
|
0.00001
|
NM_206933.4(USH2A):c.9372-4G>T
|
rs199953845
|
0.00001
|
NM_206933.4(USH2A):c.9383T>A (p.Ile3128Asn)
|
rs1486433456
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
0.00001
|
NM_206933.4(USH2A):c.9438A>G (p.Leu3146=)
|
rs894427358
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
NM_206933.4(USH2A):c.9484G>A (p.Asp3162Asn)
|
rs1042224866
|
0.00001
|
NM_206933.4(USH2A):c.9528T>G (p.Pro3176=)
|
rs781101196
|
0.00001
|
NM_206933.4(USH2A):c.9539G>C (p.Cys3180Ser)
|
rs1229658229
|
0.00001
|
NM_206933.4(USH2A):c.9549T>G (p.Ile3183Met)
|
rs1467970535
|
0.00001
|
NM_206933.4(USH2A):c.9597C>T (p.Asn3199=)
|
rs779361903
|
0.00001
|
NM_206933.4(USH2A):c.9613C>T (p.Arg3205Cys)
|
rs781059952
|
0.00001
|
NM_206933.4(USH2A):c.9627A>G (p.Glu3209=)
|
rs965867986
|
0.00001
|
NM_206933.4(USH2A):c.9638C>T (p.Pro3213Leu)
|
rs758383069
|
0.00001
|
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala)
|
rs776395355
|
0.00001
|
NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter)
|
rs760858249
|
0.00001
|
NM_206933.4(USH2A):c.9693A>G (p.Gln3231=)
|
rs1429629942
|
0.00001
|
NM_206933.4(USH2A):c.9695C>A (p.Pro3232Gln)
|
rs774654676
|
0.00001
|
NM_206933.4(USH2A):c.9714T>C (p.Ser3238=)
|
rs979950007
|
0.00001
|
NM_206933.4(USH2A):c.9724G>A (p.Ala3242Thr)
|
rs373965999
|
0.00001
|
NM_206933.4(USH2A):c.9747A>T (p.Val3249=)
|
rs754904571
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_206933.4(USH2A):c.9820T>A (p.Ser3274Thr)
|
rs1236116000
|
0.00001
|
NM_206933.4(USH2A):c.9834C>A (p.Asn3278Lys)
|
rs904037823
|
0.00001
|
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu)
|
rs1043013730
|
0.00001
|
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His)
|
rs1334903455
|
0.00001
|
NM_206933.4(USH2A):c.9870T>C (p.His3290=)
|
rs777030678
|
0.00001
|
NM_206933.4(USH2A):c.9875A>G (p.Gln3292Arg)
|
rs1243226250
|
0.00001
|
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe)
|
rs1662221668
|
0.00001
|
NM_206933.4(USH2A):c.9886G>A (p.Gly3296Ser)
|
rs371149685
|
0.00001
|
NM_206933.4(USH2A):c.9906C>T (p.Asn3302=)
|
rs757439664
|
0.00001
|
NM_206933.4(USH2A):c.9912dup (p.Glu3305fs)
|
rs759255743
|
0.00001
|
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr)
|
rs983763783
|
0.00001
|
NM_206933.4(USH2A):c.993A>G (p.Arg331=)
|
rs780960801
|
0.00001
|
NM_206933.4(USH2A):c.9951C>A (p.Arg3317=)
|
rs1662218351
|
0.00001
|
NM_206933.4(USH2A):c.9960T>C (p.Gly3320=)
|
rs1375447226
|
0.00001
|
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly)
|
rs766658893
|
0.00001
|
NM_206933.4(USH2A):c.9969T>C (p.Cys3323=)
|
rs761169195
|
0.00001
|
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu)
|
rs1378786390
|
0.00001
|
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn)
|
rs1558099268
|
0.00001
|
NM_206933.4(USH2A):c.9987G>C (p.Val3329=)
|
rs1661945214
|
0.00001
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
GRCh37/hg19 1q41(chr1:215970331-216084727)x1
|
|
|
GRCh37/hg19 1q41(chr1:216173745-216500996)x1
|
|
|
GRCh37/hg19 1q41(chr1:216208820-216274814)x1
|
|
|
GRCh37/hg19 1q41(chr1:216212155-216234471)x1
|
|
|
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
|
|
|
GRCh37/hg19 1q41(chr1:216275329-216565051)x3
|
|
|
GRCh37/hg19 1q41(chr1:216355508-216417771)x1
|
|
|
GRCh37/hg19 1q41(chr1:216405003-216565051)x1
|
|
|
GRCh37/hg19 1q41(chr1:216462622-216465712)x1
|
|
|
NC_000001.10:g.(?_215798669)_(215799151_?)del
|
|
|
NC_000001.10:g.(?_215799113)_(215802387_?)del
|
|
|
NC_000001.10:g.(?_215799113)_(215853728_?)del
|
|
|
NC_000001.10:g.(?_215799113)_(216390902_?)dup
|
|
|
NC_000001.10:g.(?_215799123)_(215844655_?)del
|
|
|
NC_000001.10:g.(?_215799123)_(215844655_?)dup
|
|
|
NC_000001.10:g.(?_215799123)_(215901746_?)dup
|
|
|
NC_000001.10:g.(?_215799123)_(216040532_?)del
|
|
|
NC_000001.10:g.(?_215799123)_(216538447_?)del
|
|
|
NC_000001.10:g.(?_215802146)_(215808055_?)dup
|
|
|
NC_000001.10:g.(?_215807781)_(215808065_?)del
|
|
|
NC_000001.10:g.(?_215807781)_(215812600_?)del
|
|
|
NC_000001.10:g.(?_215812487)_(215824153_?)dup
|
|
|
NC_000001.10:g.(?_215820844)_(215822128_?)del
|
|
|
NC_000001.10:g.(?_215820844)_(215824163_?)del
|
|
|
NC_000001.10:g.(?_215820844)_(215824163_?)dup
|
|
|
NC_000001.10:g.(?_215823914)_(215824163_?)del
|
|
|
NC_000001.10:g.(?_215844294)_(215848978_?)del
|
|
|
NC_000001.10:g.(?_215844304)_(216270565_?)del
|
|
|
NC_000001.10:g.(?_215844314)_(215853718_?)del
|
|
|
NC_000001.10:g.(?_215847294)_(215848756_?)del
|
|
|
NC_000001.10:g.(?_215847422)_(215901746_?)del
|
|
|
NC_000001.10:g.(?_215847432)_(215853728_?)dup
|
|
|
NC_000001.10:g.(?_215848781)_(215852314_?)del
|
|
|
NC_000001.10:g.(?_215853471)_(215853738_?)del
|
|
|
NC_000001.10:g.(?_215853471)_(215956297_?)del
|
|
|
NC_000001.10:g.(?_215901352)_(215940150_?)del
|
|
|
NC_000001.10:g.(?_215901352)_(216051242_?)dup
|
|
|
NC_000001.10:g.(?_215901362)_(215901736_?)del
|
|
|
NC_000001.10:g.(?_215901362)_(215940140_?)del
|
|
|
NC_000001.10:g.(?_215914697)_(215914899_?)dup
|
|
|
NC_000001.10:g.(?_215914697)_(215916697_?)del
|
|
|
NC_000001.10:g.(?_215914697)_(215933205_?)dup
|
|
|
NC_000001.10:g.(?_215914707)_(215933195_?)dup
|
|
|
NC_000001.10:g.(?_215916519)_(215916677_?)del
|
|
|
NC_000001.10:g.(?_215931917)_(215933205_?)dup
|
|
|
NC_000001.10:g.(?_215931917)_(216074267_?)del
|
|
|
NC_000001.10:g.(?_215940003)_(216074267_?)del
|
|
|
NC_000001.10:g.(?_215940003)_(216108157_?)del
|
|
|
NC_000001.10:g.(?_215940013)_(215960226_?)dup
|
|
|
NC_000001.10:g.(?_215940023)_(216108137_?)del
|
|
|
NC_000001.10:g.(?_215940031)_(215950286_?)del
|
|
|
NC_000001.10:g.(?_215953165)_(215972487_?)dup
|
|
|
NC_000001.10:g.(?_215953165)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_215960002)_(215960226_?)del
|
|
|
NC_000001.10:g.(?_215967783)_(215972487_?)del
|
|
|
NC_000001.10:g.(?_215972229)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_215972239)_(216074257_?)del
|
|
|
NC_000001.10:g.(?_215987058)_(215987266_?)del
|
|
|
NC_000001.10:g.(?_215987058)_(216019395_?)del
|
|
|
NC_000001.10:g.(?_215987078)_(216019375_?)del
|
|
|
NC_000001.10:g.(?_215987078)_(216108137_?)dup
|
|
|
NC_000001.10:g.(?_216003270)_(216011369_?)del
|
|
|
NC_000001.10:g.(?_216011313)_(216011465_?)del
|
|
|
NC_000001.10:g.(?_216011313)_(216011465_?)dup
|
|
|
NC_000001.10:g.(?_216011313)_(216017858_?)del
|
|
|
NC_000001.10:g.(?_216011313)_(216019395_?)del
|
|
|
NC_000001.10:g.(?_216011313)_(216074267_?)del
|
|
|
NC_000001.10:g.(?_216017616)_(216019395_?)del
|
|
|
NC_000001.10:g.(?_216017626)_(216017848_?)del
|
|
|
NC_000001.10:g.(?_216039721)_(216064540_?)del
|
|
|
NC_000001.10:g.(?_216039721)_(216144138_?)del
|
|
|
NC_000001.10:g.(?_216039721)_(216166529_?)del
|
|
|
NC_000001.10:g.(?_216039721)_(216538447_?)del
|
|
|
NC_000001.10:g.(?_216049419)_(216051126_?)del
|
|
|
NC_000001.10:g.(?_216051090)_(216052450_?)del
|
|
|
NC_000001.10:g.(?_216061748)_(216074267_?)del
|
|
|
NC_000001.10:g.(?_216061748)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_216107938)_(216173924_?)del
|
|
|
NC_000001.10:g.(?_216107948)_(216138831_?)dup
|
|
|
NC_000001.10:g.(?_216107948)_(216144128_?)del
|
|
|
NC_000001.10:g.(?_216107948)_(216166519_?)dup
|
|
|
NC_000001.10:g.(?_216108028)_(216110946_?)del
|
|
|
NC_000001.10:g.(?_216138639)_(216144138_?)dup
|
|
|
NC_000001.10:g.(?_216138639)_(216173924_?)del
|
|
|
NC_000001.10:g.(?_216138639)_(216243654_?)del
|
|
|
NC_000001.10:g.(?_216138639)_(216405498_?)dup
|
|
|
NC_000001.10:g.(?_216138649)_(216465722_?)dup
|
|
|
NC_000001.10:g.(?_216143947)_(216144138_?)del
|
|
|
NC_000001.10:g.(?_216164627)_(216166453_?)del
|
|
|
NC_000001.10:g.(?_216166342)_(216260182_?)del
|
|
|
NC_000001.10:g.(?_216166342)_(216538447_?)del
|
|
|
NC_000001.10:g.(?_216166352)_(216173914_?)del
|
|
|
NC_000001.10:g.(?_216166362)_(216166509_?)del
|
|
|
NC_000001.10:g.(?_216172219)_(216173914_?)del
|
|
|
NC_000001.10:g.(?_216172699)_216173911del
|
|
|
NC_000001.10:g.(?_216173735)_(216348834_?)del
|
|
|
NC_000001.10:g.(?_216173777)_(216176014_?)del
|
|
|
NC_000001.10:g.(?_216219753)_(216222009_?)del
|
|
|
NC_000001.10:g.(?_216219753)_(216262501_?)del
|
|
|
NC_000001.10:g.(?_216219753)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_216219753)_(216270575_?)dup
|
|
|
NC_000001.10:g.(?_216219884)_(216227803_?)del
|
|
|
NC_000001.10:g.(?_216221856)_(216222009_?)del
|
|
|
NC_000001.10:g.(?_216221876)_(216270555_?)del
|
|
|
NC_000001.10:g.(?_216243423)_(216258239_?)del
|
|
|
NC_000001.10:g.(?_216243423)_(216262501_?)del
|
|
|
NC_000001.10:g.(?_216243423)_(216538447_?)del
|
|
|
NC_000001.10:g.(?_216246211)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_216251411)_(216251724_?)del
|
|
|
NC_000001.10:g.(?_216251421)_(216258229_?)del
|
|
|
NC_000001.10:g.(?_216256778)_(216270575_?)dup
|
|
|
NC_000001.10:g.(?_216256778)_(216363729_?)del
|
|
|
NC_000001.10:g.(?_216256788)_(216270565_?)del
|
|
|
NC_000001.10:g.(?_216260041)_(216262501_?)del
|
|
|
NC_000001.10:g.(?_216260041)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_216262335)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_216270405)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_216270405)_(216424460_?)del
|
|
|
NC_000001.10:g.(?_216348570)_(216538437_?)dup
|
|
|
NC_000001.10:g.(?_216348574)_(216348844_?)del
|
|
|
NC_000001.10:g.(?_216348574)_(216363729_?)del
|
|
|
NC_000001.10:g.(?_216348574)_(216363729_?)dup
|
|
|
NC_000001.10:g.(?_216348574)_(216373483_?)del
|
|
|
NC_000001.10:g.(?_216348574)_(216390912_?)del
|
|
|
NC_000001.10:g.(?_216348574)_(216405498_?)del
|
|
|
NC_000001.10:g.(?_216348574)_(216465732_?)del
|
|
|
NC_000001.10:g.(?_216348580)_(216348824_?)del
|
|
|
NC_000001.10:g.(?_216363555)_(216363719_?)del
|
|
|
NC_000001.10:g.(?_216363555)_(216390902_?)del
|
|
|
NC_000001.10:g.(?_216363555)_(216405488_?)del
|
|
|
NC_000001.10:g.(?_216363565)_(216373463_?)del
|
|
|
NC_000001.10:g.(?_216363595)_(216374941_?)del
|
|
|
NC_000001.10:g.(?_216369875)_(216373483_?)del
|
|
|
NC_000001.10:g.(?_216369875)_(216424460_?)del
|
|
|
NC_000001.10:g.(?_216372959)_(216373473_?)del
|
|
|
NC_000001.10:g.(?_216373331)_(216375317_?)del
|
|
|
NC_000001.10:g.(?_216380595)_(216405498_?)del
|
|
|
NC_000001.10:g.(?_216380595)_(216592041_?)dup
|
|
|
NC_000001.10:g.(?_216380605)_(216424450_?)del
|
|
|
NC_000001.10:g.(?_216380707)_(216382383_?)del
|
|
|
NC_000001.10:g.(?_216405285)_(216405488_?)del
|
|
|
NC_000001.10:g.(?_216405285)_(216424450_?)dup
|
|
|
NC_000001.10:g.(?_216419907)_(216420588_?)del
|
|
|
NC_000001.10:g.(?_216419907)_(216465732_?)del
|
|
|
NC_000001.10:g.(?_216419917)_(216501006_?)del
|
|
|
NC_000001.10:g.(?_216461143)_(216465592_?)del
|
|
|
NC_000001.10:g.(?_216462602)_(216462772_?)dup
|
|
|
NC_000001.10:g.(?_216462602)_(216465732_?)del
|
|
|
NC_000001.10:g.(?_216462612)_(216596610_?)dup
|
|
|
NC_000001.10:g.(?_216464357)_(216538407_?)del
|
|
|
NC_000001.10:g.(?_216465497)_(216465732_?)del
|
|
|
NC_000001.10:g.(?_216465497)_(216501016_?)del
|
|
|
NC_000001.10:g.(?_216495205)_(216497057_?)del
|
|
|
NC_000001.10:g.(?_216495205)_(216501016_?)del
|
|
|
NC_000001.10:g.(?_216495215)_(216498951_?)del
|
|
|
NC_000001.10:g.(?_216495215)_(216501006_?)dup
|
|
|
NC_000001.10:g.(?_216495225)_(216500996_?)del
|
|
|
NC_000001.10:g.(?_216497583)_(216503303_?)del
|
|
|
NC_000001.10:g.(?_216536920)_(216538298_?)del
|
|
|
NC_000001.10:g.(?_216538275)_(216538447_?)del
|
|
|
NC_000001.10:g.(?_216538275)_(216538447_?)dup
|
|
|
NC_000001.10:g.(?_216538275)_(216596610_?)del
|
|
|
NC_000001.10:g.(?_216591736)_(216592015_?)del
|
|
|
NC_000001.10:g.(?_216591836)_(216596610_?)dup
|
|
|
NC_000001.10:g.(?_216591856)_(216595678_?)dup
|
|
|
NC_000001.10:g.(?_216591882)_(216592022_?)del
|
|
|
NC_000001.10:g.(?_216595184)_(216596610_?)del
|
|
|
NC_000001.10:g.(?_216595257)_(216601343_?)del
|
|
|
NC_000001.11:g.(?_215670962)_(215671303_?)del
|
|
|
NC_000001.11:g.(?_215670962)_(215675626_?)del
|
|
|
NC_000001.11:g.(?_215758595)_(215759843_?)dup
|
|
|
NC_000001.11:g.(?_215766671)_(215934805_?)del
|
|
|
NC_000001.11:g.(?_215798897)_(215799135_?)del
|
|
|
NC_000001.11:g.(?_215813726)_(215817205_?)del
|
|
|
NC_000001.11:g.(?_215837981)_(215838113_?)del
|
|
|
NC_000001.11:g.(?_215837981)_(215846043_?)del
|
|
|
NC_000001.11:g.(?_215837991)_(215844496_?)dup
|
|
|
NC_000001.11:g.(?_215837991)_(215846033_?)del
|
|
|
NC_000001.11:g.(?_215993010)_(215993177_?)del
|
|
|
NC_000001.11:g.(?_216070101)_(216097213_?)del
|
|
|
NC_000001.11:g.(?_216078079)_(216078372_?)del
|
|
|
NC_000001.11:g.(?_216086709)_(216097223_?)del
|
|
|
NC_000001.11:g.(?_216089003)_(216097223_?)del
|
|
|
NC_000001.11:g.(?_216097073)_(216097223_?)del
|
|
|
NC_000001.11:g.(?_216175228)_(216175492_?)del
|
|
|
NC_000001.11:g.(?_216217387)_(216292370_?)del
|
|
|
NC_000001.11:g.(?_216250893)_(216251108_?)del
|
|
|
NC_000001.11:g.(?_216289280)_(216292370_?)del
|
|
|
NC_000001.11:g.(?_216292165)_(216327664_?)del
|
|
|
NC_000001.11:g.(?_216321873)_(216327664_?)del
|
|
|
NC_000001.11:g.(?_216364953)_(216365085_?)del
|
|
|
NC_000001.11:g.216083590_216083591insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCAGGAACCCTTT
|
|
|
NC_000001.11:g.216418542_216418680del
|
rs2102783758
|
|
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter)
|
rs730880349
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_206933.2(USH2A):c.(?_4628)_(4987_?)del
|
|
|
NM_206933.2(USH2A):c.(?_5299)_(5572_?)del
|
|
|
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs)
|
rs1064797133
|
|
NM_206933.2(USH2A):c.11048-?_11711+?dup
|
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692
|
|
NM_206933.2(USH2A):c.850_853delGAGA
|
|
|
NM_206933.3(USH2A):c.12295-?_14133+?del
|
|
|
NM_206933.4(USH2A):c.*4A>G
|
rs530405236
|
|
NM_206933.4(USH2A):c.-259G>T
|
|
|
NM_206933.4(USH2A):c.10001C>T (p.Thr3334Ile)
|
|
|
NM_206933.4(USH2A):c.10003A>T (p.Ile3335Leu)
|
|
|
NM_206933.4(USH2A):c.10004T>C (p.Ile3335Thr)
|
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.10011C>T (p.Cys3337=)
|
|
|
NM_206933.4(USH2A):c.10014A>T (p.Ser3338=)
|
rs1388187983
|
|
NM_206933.4(USH2A):c.1001G>C (p.Arg334Pro)
|
rs758303489
|
|
NM_206933.4(USH2A):c.10030T>G (p.Ser3344Ala)
|
|
|
NM_206933.4(USH2A):c.10032T>A (p.Ser3344=)
|
rs748330735
|
|
NM_206933.4(USH2A):c.10035A>G (p.Lys3345=)
|
|
|
NM_206933.4(USH2A):c.10038A>T (p.Ala3346=)
|
|
|
NM_206933.4(USH2A):c.10040A>C (p.His3347Pro)
|
rs1415565146
|
|
NM_206933.4(USH2A):c.10040A>G (p.His3347Arg)
|
rs1415565146
|
|
NM_206933.4(USH2A):c.10041T>C (p.His3347=)
|
rs2102770024
|
|
NM_206933.4(USH2A):c.10042A>G (p.Ile3348Val)
|
rs1198189028
|
|
NM_206933.4(USH2A):c.10046A>G (p.Lys3349Arg)
|
rs2102770016
|
|
NM_206933.4(USH2A):c.10047A>G (p.Lys3349=)
|
rs1661942668
|
|
NM_206933.4(USH2A):c.10056C>G (p.Asp3352Glu)
|
|
|
NM_206933.4(USH2A):c.10056C>T (p.Asp3352=)
|
|
|
NM_206933.4(USH2A):c.10059G>C (p.Pro3353=)
|
|
|
NM_206933.4(USH2A):c.10060G>C (p.Val3354Leu)
|
rs1661942086
|
|
NM_206933.4(USH2A):c.10061T>A (p.Val3354Glu)
|
|
|
NM_206933.4(USH2A):c.10062G>A (p.Val3354=)
|
rs200172376
|
|
NM_206933.4(USH2A):c.10065A>G (p.Pro3355=)
|
|
|
NM_206933.4(USH2A):c.10065A>T (p.Pro3355=)
|
|
|
NM_206933.4(USH2A):c.10071del (p.Lys3357fs)
|
rs2102769969
|
|
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)
|
rs1403618793
|
|
NM_206933.4(USH2A):c.10076G>A (p.Cys3359Tyr)
|
|
|
NM_206933.4(USH2A):c.10087C>T (p.Leu3363Phe)
|
|
|
NM_206933.4(USH2A):c.10091T>C (p.Ile3364Thr)
|
|
|
NM_206933.4(USH2A):c.10092T>C (p.Ile3364=)
|
|
|
NM_206933.4(USH2A):c.10096A>G (p.Lys3366Glu)
|
|
|
NM_206933.4(USH2A):c.10096_10097del (p.Lys3366fs)
|
rs2102769946
|
|
NM_206933.4(USH2A):c.10098G>A (p.Lys3366=)
|
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.10102C>T (p.Gln3368Ter)
|
|
|
NM_206933.4(USH2A):c.10108T>G (p.Cys3370Gly)
|
rs1302364971
|
|
NM_206933.4(USH2A):c.10110C>T (p.Cys3370=)
|
|
|
NM_206933.4(USH2A):c.10122T>C (p.Val3374=)
|
rs2102769913
|
|
NM_206933.4(USH2A):c.10135T>C (p.Leu3379=)
|
|
|
NM_206933.4(USH2A):c.10141T>C (p.Tyr3381His)
|
rs2102769888
|
|
NM_206933.4(USH2A):c.10159del (p.Ile3387fs)
|
|
|
NM_206933.4(USH2A):c.10164A>C (p.Ser3388=)
|
rs889648042
|
|
NM_206933.4(USH2A):c.10164A>G (p.Ser3388=)
|
rs889648042
|
|
NM_206933.4(USH2A):c.10165A>G (p.Thr3389Ala)
|
rs1341186496
|
|
NM_206933.4(USH2A):c.10167T>C (p.Thr3389=)
|
rs1229807968
|
|
NM_206933.4(USH2A):c.10182+10A>G
|
|
|
NM_206933.4(USH2A):c.10182+11G>C
|
|
|
NM_206933.4(USH2A):c.10182+13A>G
|
rs1661936598
|
|
NM_206933.4(USH2A):c.10182+16G>A
|
|
|
NM_206933.4(USH2A):c.10182+18T>C
|
rs2102769791
|
|
NM_206933.4(USH2A):c.10182+27C>T
|
rs11120629
|
|
NM_206933.4(USH2A):c.10182+3A>T
|
|
|
NM_206933.4(USH2A):c.10182+6T>G
|
|
|
NM_206933.4(USH2A):c.10182+6del
|
|
|
NM_206933.4(USH2A):c.10182+7G>C
|
rs2102769808
|
|
NM_206933.4(USH2A):c.10183-10C>T
|
|
|
NM_206933.4(USH2A):c.10183-14G>A
|
|
|
NM_206933.4(USH2A):c.10183-15T>C
|
|
|
NM_206933.4(USH2A):c.10183-16C>G
|
rs757376043
|
|
NM_206933.4(USH2A):c.10183-18C>A
|
|
|
NM_206933.4(USH2A):c.10183-2A>G
|
rs1661818720
|
|
NM_206933.4(USH2A):c.10183-5C>T
|
|
|
NM_206933.4(USH2A):c.10183-6A>G
|
rs2102767116
|
|
NM_206933.4(USH2A):c.10183-7G>A
|
rs2102767120
|
|
NM_206933.4(USH2A):c.10183-9T>A
|
|
|
NM_206933.4(USH2A):c.10183G>T (p.Glu3395Ter)
|
rs2102767109
|
|
NM_206933.4(USH2A):c.10185A>G (p.Glu3395=)
|
rs2102767107
|
|
NM_206933.4(USH2A):c.10188C>A (p.Thr3396=)
|
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.10192G>T (p.Glu3398Ter)
|
|
|
NM_206933.4(USH2A):c.10194G>T (p.Glu3398Asp)
|
|
|
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)
|
rs1183957540
|
|
NM_206933.4(USH2A):c.10199G>A (p.Arg3400Lys)
|
rs1431227070
|
|
NM_206933.4(USH2A):c.101G>A (p.Arg34Gln)
|
rs2039690682
|
|
NM_206933.4(USH2A):c.10203C>A (p.Ile3401=)
|
|
|
NM_206933.4(USH2A):c.10209C>A (p.Cys3403Ter)
|
|
|
NM_206933.4(USH2A):c.10209C>T (p.Cys3403=)
|
|
|
NM_206933.4(USH2A):c.10211C>T (p.Pro3404Leu)
|
|
|
NM_206933.4(USH2A):c.10211del (p.Pro3404fs)
|
rs1571686349
|
|
NM_206933.4(USH2A):c.10212A>G (p.Pro3404=)
|
|
|
NM_206933.4(USH2A):c.10214C>A (p.Ala3405Glu)
|
rs547497252
|
|
NM_206933.4(USH2A):c.10218T>C (p.Ser3406=)
|
|
|
NM_206933.4(USH2A):c.10219A>G (p.Met3407Val)
|
|
|
NM_206933.4(USH2A):c.10224A>G (p.Glu3408=)
|
rs1553261931
|
|
NM_206933.4(USH2A):c.10235A>T (p.His3412Leu)
|
|
|
NM_206933.4(USH2A):c.10245G>A (p.Arg3415=)
|
|
|
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly)
|
rs527236140
|
|
NM_206933.4(USH2A):c.10256A>G (p.Asn3419Ser)
|
|
|
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp)
|
rs1558097546
|
|
NM_206933.4(USH2A):c.10258T>C (p.Phe3420Leu)
|
|
|
NM_206933.4(USH2A):c.10259T>C (p.Phe3420Ser)
|
|
|
NM_206933.4(USH2A):c.1025T>C (p.Leu342Pro)
|
rs2037710344
|
|
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn)
|
rs773660267
|
|
NM_206933.4(USH2A):c.1026C>G (p.Leu342=)
|
rs907998847
|
|
NM_206933.4(USH2A):c.1026_1029del (p.Ser343fs)
|
rs1458938381
|
|
NM_206933.4(USH2A):c.10274G>T (p.Cys3425Phe)
|
|
|
NM_206933.4(USH2A):c.10275C>T (p.Cys3425=)
|
rs964608527
|
|
NM_206933.4(USH2A):c.10277C>G (p.Thr3426Ser)
|
|
|
NM_206933.4(USH2A):c.1027T>C (p.Ser343Pro)
|
rs397517965
|
|
NM_206933.4(USH2A):c.10281G>A (p.Val3427=)
|
rs1469222325
|
|
NM_206933.4(USH2A):c.10281G>C (p.Val3427=)
|
|
|
NM_206933.4(USH2A):c.10284A>G (p.Ile3428Met)
|
rs1571686105
|
|
NM_206933.4(USH2A):c.10285A>G (p.Arg3429Gly)
|
|
|
NM_206933.4(USH2A):c.10287A>G (p.Arg3429=)
|
|
|
NM_206933.4(USH2A):c.1028C>A (p.Ser343Tyr)
|
rs2102655905
|
|
NM_206933.4(USH2A):c.10290G>T (p.Gly3430=)
|
|
|
NM_206933.4(USH2A):c.10298A>G (p.Asn3433Ser)
|
|
|
NM_206933.4(USH2A):c.102A>C (p.Arg34=)
|
|
|
NM_206933.4(USH2A):c.10302C>T (p.Ser3434=)
|
|
|
NM_206933.4(USH2A):c.10312G>C (p.Ala3438Pro)
|
rs146980351
|
|
NM_206933.4(USH2A):c.10312G>T (p.Ala3438Ser)
|
|
|
NM_206933.4(USH2A):c.10313C>T (p.Ala3438Val)
|
|
|
NM_206933.4(USH2A):c.10314del (p.Ser3439fs)
|
rs2102766886
|
|
NM_206933.4(USH2A):c.10317A>T (p.Ser3439=)
|
rs1374797619
|
|
NM_206933.4(USH2A):c.10318del (p.Ile3440fs)
|
rs1553261898
|
|
NM_206933.4(USH2A):c.10320T>A (p.Ile3440=)
|
|
|
NM_206933.4(USH2A):c.10322A>G (p.Glu3441Gly)
|
|
|
NM_206933.4(USH2A):c.10324G>T (p.Glu3442Ter)
|
rs1388161283
|
|
NM_206933.4(USH2A):c.10328T>C (p.Met3443Thr)
|
rs1661811672
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
|
|
NM_206933.4(USH2A):c.10341C>G (p.Ala3447=)
|
|
|
NM_206933.4(USH2A):c.10345G>C (p.Glu3449Gln)
|
rs866083618
|
|
NM_206933.4(USH2A):c.10346A>C (p.Glu3449Ala)
|
rs1661810941
|
|
NM_206933.4(USH2A):c.10350C>G (p.Thr3450=)
|
rs1661810771
|
|
NM_206933.4(USH2A):c.10350dup (p.Ile3451fs)
|
rs2102766834
|
|
NM_206933.4(USH2A):c.10351A>G (p.Ile3451Val)
|
|
|
NM_206933.4(USH2A):c.10355A>G (p.His3452Arg)
|
|
|
NM_206933.4(USH2A):c.10365T>C (p.Ser3455=)
|
rs762342163
|
|
NM_206933.4(USH2A):c.1036A>G (p.Asn346Asp)
|
rs369522997
|
|
NM_206933.4(USH2A):c.10373C>G (p.Thr3458Arg)
|
|
|
NM_206933.4(USH2A):c.10377C>T (p.Tyr3459=)
|
|
|
NM_206933.4(USH2A):c.1037A>G (p.Asn346Ser)
|
|
|
NM_206933.4(USH2A):c.10380_10381del (p.Tyr3461fs)
|
rs2102766786
|
|
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)
|
rs1416602859
|
|
NM_206933.4(USH2A):c.10387+10A>G
|
rs1571685922
|
|
NM_206933.4(USH2A):c.10387+17T>A
|
|
|
NM_206933.4(USH2A):c.10387+1G>A
|
|
|
NM_206933.4(USH2A):c.10388-11T>C
|
|
|
NM_206933.4(USH2A):c.10388-11dup
|
rs770615998
|
|
NM_206933.4(USH2A):c.10388-12T>C
|
|
|
NM_206933.4(USH2A):c.10388-14T>C
|
|
|
NM_206933.4(USH2A):c.10388-16T>C
|
|
|
NM_206933.4(USH2A):c.10388-17_10388-7del
|
rs1442627890
|
|
NM_206933.4(USH2A):c.10388-1G>A
|
rs1553261478
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
NM_206933.4(USH2A):c.10388-4C>G
|
|
|
NM_206933.4(USH2A):c.10388-5T>C
|
rs774936964
|
|
NM_206933.4(USH2A):c.10388-7T>C
|
|
|
NM_206933.4(USH2A):c.10388-8C>G
|
|
|
NM_206933.4(USH2A):c.10395C>T (p.Asn3465=)
|
rs775961749
|
|
NM_206933.4(USH2A):c.10398C>A (p.Leu3466=)
|
|
|
NM_206933.4(USH2A):c.10398C>G (p.Leu3466=)
|
rs563370514
|
|
NM_206933.4(USH2A):c.10398C>T (p.Leu3466=)
|
rs563370514
|
|
NM_206933.4(USH2A):c.1039G>C (p.Asp347His)
|
rs772317024
|
|
NM_206933.4(USH2A):c.1039_1041del (p.Asp347del)
|
rs1553250786
|
|
NM_206933.4(USH2A):c.10404C>G (p.Pro3468=)
|
|
|
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter)
|
rs1661687852
|
|
NM_206933.4(USH2A):c.10408A>G (p.Met3470Val)
|
|
|
NM_206933.4(USH2A):c.10411A>T (p.Thr3471Ser)
|
|
|
NM_206933.4(USH2A):c.10413A>C (p.Thr3471=)
|
rs530322386
|
|
NM_206933.4(USH2A):c.10413A>G (p.Thr3471=)
|
rs530322386
|
|
NM_206933.4(USH2A):c.10413A>T (p.Thr3471=)
|
|
|
NM_206933.4(USH2A):c.10414T>A (p.Tyr3472Asn)
|
rs375487139
|
|
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)
|
rs1553261469
|
|
NM_206933.4(USH2A):c.10417G>C (p.Glu3473Gln)
|
rs778879348
|
|
NM_206933.4(USH2A):c.10424G>A (p.Arg3475Lys)
|
rs1661684078
|
|
NM_206933.4(USH2A):c.10437G>A (p.Trp3479Ter)
|
rs1308924086
|
|
NM_206933.4(USH2A):c.10437G>T (p.Trp3479Cys)
|
|
|
NM_206933.4(USH2A):c.10438A>C (p.Asn3480His)
|
rs2102763603
|
|
NM_206933.4(USH2A):c.10439A>G (p.Asn3480Ser)
|
|
|
NM_206933.4(USH2A):c.10446T>A (p.Tyr3482Ter)
|
rs767501966
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10458C>T (p.Leu3486=)
|
rs2102763574
|
|
NM_206933.4(USH2A):c.10464del (p.Ala3489fs)
|
|
|
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr)
|
rs1553261464
|
|
NM_206933.4(USH2A):c.10466del (p.Ala3489fs)
|
|
|
NM_206933.4(USH2A):c.10474G>A (p.Ala3492Thr)
|
rs771610821
|
|
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
|
rs771610821
|
|
NM_206933.4(USH2A):c.10478G>T (p.Arg3493Ile)
|
rs201182885
|
|
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
|
rs1241034250
|
|
NM_206933.4(USH2A):c.10489G>A (p.Asp3497Asn)
|
|
|
NM_206933.4(USH2A):c.1048G>A (p.Val350Ile)
|
|
|
NM_206933.4(USH2A):c.10494G>T (p.Val3498=)
|
|
|
NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr)
|
rs1553261461
|
|
NM_206933.4(USH2A):c.10498C>T (p.Gln3500Ter)
|
|
|
NM_206933.4(USH2A):c.10500A>G (p.Gln3500=)
|
rs2102763505
|
|
NM_206933.4(USH2A):c.10502_10535dup (p.Asn3512fs)
|
rs2102763421
|
|
NM_206933.4(USH2A):c.10504G>C (p.Val3502Leu)
|
|
|
NM_206933.4(USH2A):c.10506G>A (p.Val3502=)
|
rs2102763500
|
|
NM_206933.4(USH2A):c.10508G>A (p.Ser3503Asn)
|
|
|
NM_206933.4(USH2A):c.10509T>A (p.Ser3503Arg)
|
|
|
NM_206933.4(USH2A):c.10509T>C (p.Ser3503=)
|
rs139502089
|
|
NM_206933.4(USH2A):c.1050T>C (p.Val350=)
|
|
|
NM_206933.4(USH2A):c.10511C>T (p.Pro3504Leu)
|
|
|
NM_206933.4(USH2A):c.10512C>T (p.Pro3504=)
|
rs2102763482
|
|
NM_206933.4(USH2A):c.10514C>T (p.Pro3505Leu)
|
rs186570255
|
|
NM_206933.4(USH2A):c.10515T>C (p.Pro3505=)
|
|
|
NM_206933.4(USH2A):c.10515T>G (p.Pro3505=)
|
|
|
NM_206933.4(USH2A):c.10516A>C (p.Thr3506Pro)
|
|
|
NM_206933.4(USH2A):c.10523C>T (p.Thr3508Ile)
|
|
|
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)
|
rs944675223
|
|
NM_206933.4(USH2A):c.10530A>C (p.Ile3510=)
|
|
|
NM_206933.4(USH2A):c.10533C>T (p.Asp3511=)
|
rs1397341233
|
|
NM_206933.4(USH2A):c.10534A>C (p.Asn3512His)
|
rs758985068
|
|
NM_206933.4(USH2A):c.10539T>G (p.Leu3513=)
|
|
|
NM_206933.4(USH2A):c.10544A>C (p.Asp3515Ala)
|
|
|
NM_206933.4(USH2A):c.10545T>C (p.Asp3515=)
|
rs1661678756
|
|
NM_206933.4(USH2A):c.1055C>G (p.Thr352Ser)
|
|
|
NM_206933.4(USH2A):c.10561T>A (p.Trp3521Arg)
|
rs111033264
|
|
NM_206933.4(USH2A):c.10569dup (p.Pro3524fs)
|
|
|
NM_206933.4(USH2A):c.10571C>A (p.Pro3524His)
|
rs1064793288
|
|
NM_206933.4(USH2A):c.10573A>G (p.Ile3525Val)
|
rs1214766432
|
|
NM_206933.4(USH2A):c.10575A>T (p.Ile3525=)
|
|
|
NM_206933.4(USH2A):c.10576C>T (p.Gln3526Ter)
|
|
|
NM_206933.4(USH2A):c.10585+10T>C
|
rs2102763336
|
|
NM_206933.4(USH2A):c.10585+10T>G
|
rs2102763336
|
|
NM_206933.4(USH2A):c.10585+11A>T
|
|
|
NM_206933.4(USH2A):c.10585+12C>T
|
rs780445479
|
|
NM_206933.4(USH2A):c.10585+13C>A
|
|
|
NM_206933.4(USH2A):c.10585+1G>A
|
rs2102763351
|
|
NM_206933.4(USH2A):c.10585+3A>G
|
rs2102763350
|
|
NM_206933.4(USH2A):c.10585+6G>C
|
|
|
NM_206933.4(USH2A):c.10585+7A>G
|
rs2102763342
|
|
NM_206933.4(USH2A):c.10585+9A>T
|
|
|
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10586-10C>A
|
|
|
NM_206933.4(USH2A):c.10586-11G>C
|
|
|
NM_206933.4(USH2A):c.10586-17T>C
|
|
|
NM_206933.4(USH2A):c.10586-20del
|
|
|
NM_206933.4(USH2A):c.10586-6T>C
|
rs2102762852
|
|
NM_206933.4(USH2A):c.10586-7C>A
|
rs2102762855
|
|
NM_206933.4(USH2A):c.10586-8T>G
|
|
|
NM_206933.4(USH2A):c.10592T>C (p.Ile3531Thr)
|
|
|
NM_206933.4(USH2A):c.10593T>C (p.Ile3531=)
|
rs1163620651
|
|
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
|
|
|
NM_206933.4(USH2A):c.10598A>G (p.Tyr3533Cys)
|
rs1447073164
|
|
NM_206933.4(USH2A):c.1059A>T (p.Ser353=)
|
|
|
NM_206933.4(USH2A):c.10602C>T (p.Tyr3534=)
|
|
|
NM_206933.4(USH2A):c.10603A>G (p.Ile3535Val)
|
|
|
NM_206933.4(USH2A):c.10605C>A (p.Ile3535=)
|
rs1571681569
|
|
NM_206933.4(USH2A):c.1060T>A (p.Trp354Arg)
|
rs2102655835
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.10626del (p.Glu3542fs)
|
rs1558095403
|
|
NM_206933.4(USH2A):c.10627C>T (p.Arg3543Cys)
|
|
|
NM_206933.4(USH2A):c.10627_10628insA (p.Arg3543fs)
|
rs1661662091
|
|
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
|
|
|
NM_206933.4(USH2A):c.10634G>C (p.Arg3545Pro)
|
|
|
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10638A>C (p.Gly3546=)
|
rs1661661673
|
|
NM_206933.4(USH2A):c.10641A>G (p.Thr3547=)
|
|
|
NM_206933.4(USH2A):c.10645C>T (p.Leu3549=)
|
|
|
NM_206933.4(USH2A):c.10646T>G (p.Leu3549Arg)
|
rs868782593
|
|
NM_206933.4(USH2A):c.10651T>C (p.Phe3551Leu)
|
|
|
NM_206933.4(USH2A):c.10653C>T (p.Phe3551=)
|
|
|
NM_206933.4(USH2A):c.10656T>C (p.Ser3552=)
|
rs727503719
|
|
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)
|
rs910086490
|
|
NM_206933.4(USH2A):c.10665G>A (p.Glu3555=)
|
rs2102762710
|
|
NM_206933.4(USH2A):c.10666G>T (p.Gly3556Ter)
|
rs1661660762
|
|
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu)
|
rs397517968
|
|
NM_206933.4(USH2A):c.10674A>G (p.Gln3558=)
|
rs772400278
|
|
NM_206933.4(USH2A):c.10677A>T (p.Pro3559=)
|
rs982936608
|
|
NM_206933.4(USH2A):c.10682A>G (p.Gln3561Arg)
|
|
|
NM_206933.4(USH2A):c.10683G>A (p.Gln3561=)
|
|
|
NM_206933.4(USH2A):c.10686A>G (p.Glu3562=)
|
|
|
NM_206933.4(USH2A):c.10689T>A (p.Tyr3563Ter)
|
|
|
NM_206933.4(USH2A):c.10689T>C (p.Tyr3563=)
|
|
|
NM_206933.4(USH2A):c.10690_10693dup (p.Tyr3565fs)
|
rs2102762663
|
|
NM_206933.4(USH2A):c.10691C>G (p.Ser3564Ter)
|
|
|
NM_206933.4(USH2A):c.10692A>G (p.Ser3564=)
|
rs1661659716
|
|
NM_206933.4(USH2A):c.10693T>C (p.Tyr3565His)
|
rs1553261365
|
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
|
NM_206933.4(USH2A):c.1069A>C (p.Asn357His)
|
|
|
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)
|
rs144560419
|
|
NM_206933.4(USH2A):c.10701G>A (p.Leu3567=)
|
|
|
NM_206933.4(USH2A):c.10702A>T (p.Lys3568Ter)
|
|
|
NM_206933.4(USH2A):c.10709G>T (p.Cys3570Phe)
|
|
|
NM_206933.4(USH2A):c.10713G>T (p.Thr3571=)
|
|
|
NM_206933.4(USH2A):c.10714G>A (p.Val3572Ile)
|
|
|
NM_206933.4(USH2A):c.10714del (p.Val3572fs)
|
|
|
NM_206933.4(USH2A):c.10720_10721delinsTT (p.Gly3574Phe)
|
rs1661658623
|
|
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val)
|
rs1259758261
|
|
NM_206933.4(USH2A):c.10724G>C (p.Cys3575Ser)
|
rs111033265
|
|
NM_206933.4(USH2A):c.10731C>T (p.Thr3577=)
|
|
|
NM_206933.4(USH2A):c.10734T>C (p.Ser3578=)
|
rs1661658126
|
|
NM_206933.4(USH2A):c.10740+5G>A
|
rs2102762606
|
|
NM_206933.4(USH2A):c.10740+7G>A
|
rs201206110
|
|
NM_206933.4(USH2A):c.10740+7G>C
|
rs201206110
|
|
NM_206933.4(USH2A):c.10740+8G>A
|
|
|
NM_206933.4(USH2A):c.10740+9A>C
|
rs1160541289
|
|
NM_206933.4(USH2A):c.10740G>C (p.Lys3580Asn)
|
rs369507534
|
|
NM_206933.4(USH2A):c.10741-1G>T
|
rs1064795279
|
|
NM_206933.4(USH2A):c.10741-20C>T
|
|
|
NM_206933.4(USH2A):c.10746T>A (p.Val3582=)
|
rs2102760768
|
|
NM_206933.4(USH2A):c.10748C>T (p.Ala3583Val)
|
rs1661584369
|
|
NM_206933.4(USH2A):c.10749A>C (p.Ala3583=)
|
rs747834026
|
|
NM_206933.4(USH2A):c.10750G>C (p.Ala3584Pro)
|
rs1167594983
|
|
NM_206933.4(USH2A):c.10752T>C (p.Ala3584=)
|
|
|
NM_206933.4(USH2A):c.10754C>T (p.Thr3585Ile)
|
rs2102760750
|
|
NM_206933.4(USH2A):c.10756A>T (p.Thr3586Ser)
|
rs774505414
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.1075T>C (p.Phe359Leu)
|
|
|
NM_206933.4(USH2A):c.10773G>A (p.Glu3591=)
|
rs2102760722
|
|
NM_206933.4(USH2A):c.10776C>T (p.Ser3592=)
|
|
|
NM_206933.4(USH2A):c.10779C>A (p.Ile3593=)
|
|
|
NM_206933.4(USH2A):c.10779C>G (p.Ile3593Met)
|
rs781539138
|
|
NM_206933.4(USH2A):c.10785A>G (p.Pro3595=)
|
rs1385937550
|
|
NM_206933.4(USH2A):c.10792A>C (p.Ile3598Leu)
|
rs993682170
|
|
NM_206933.4(USH2A):c.10794C>A (p.Ile3598=)
|
rs2102760701
|
|
NM_206933.4(USH2A):c.10800C>G (p.Ala3600=)
|
rs1354765742
|
|
NM_206933.4(USH2A):c.10811T>G (p.Val3604Gly)
|
rs2102760689
|
|
NM_206933.4(USH2A):c.10812G>A (p.Val3604=)
|
|
|
NM_206933.4(USH2A):c.10816C>T (p.Leu3606=)
|
|
|
NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro)
|
|
|
NM_206933.4(USH2A):c.10826G>C (p.Ser3609Thr)
|
rs727504307
|
|
NM_206933.4(USH2A):c.10829G>A (p.Trp3610Ter)
|
rs2102760660
|
|
NM_206933.4(USH2A):c.10830G>A (p.Trp3610Ter)
|
|
|
NM_206933.4(USH2A):c.10833T>C (p.Ser3611=)
|
rs2102760658
|
|
NM_206933.4(USH2A):c.1083C>T (p.Asn361=)
|
|
|
NM_206933.4(USH2A):c.10842G>T (p.Glu3614Asp)
|
|
|
NM_206933.4(USH2A):c.10845_10851del (p.Ser3616fs)
|
rs1661579382
|
|
NM_206933.4(USH2A):c.10851C>A (p.Asn3617Lys)
|
rs12073994
|
|
NM_206933.4(USH2A):c.10853G>A (p.Gly3618Asp)
|
|
|
NM_206933.4(USH2A):c.10854C>A (p.Gly3618=)
|
rs1348201363
|
|
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
|
|
|
NM_206933.4(USH2A):c.10857C>A (p.Val3619=)
|
|
|
NM_206933.4(USH2A):c.10861A>T (p.Lys3621Ter)
|
|
|
NM_206933.4(USH2A):c.10866G>C (p.Glu3622Asp)
|
rs749941664
|
|
NM_206933.4(USH2A):c.10866_10867delinsAACCA (p.Tyr3623delinsThrAsn)
|
|
|
NM_206933.4(USH2A):c.10869_10871del (p.Tyr3623_Gln3624delinsTer)
|
rs1167455690
|
|
NM_206933.4(USH2A):c.10874T>C (p.Ile3625Thr)
|
|
|
NM_206933.4(USH2A):c.10875C>T (p.Ile3625=)
|
|
|
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
|
|
|
NM_206933.4(USH2A):c.10882G>C (p.Val3628Leu)
|
rs1159530779
|
|
NM_206933.4(USH2A):c.10883T>C (p.Val3628Ala)
|
|
|
NM_206933.4(USH2A):c.10890A>G (p.Lys3630=)
|
rs1661576412
|
|
NM_206933.4(USH2A):c.10901A>G (p.His3634Arg)
|
rs1553261102
|
|
NM_206933.4(USH2A):c.10902C>T (p.His3634=)
|
rs1223585934
|
|
NM_206933.4(USH2A):c.10903A>C (p.Thr3635Pro)
|
|
|
NM_206933.4(USH2A):c.10909A>C (p.Thr3637Pro)
|
|
|
NM_206933.4(USH2A):c.10911C>A (p.Thr3637=)
|
|
|
NM_206933.4(USH2A):c.10914T>C (p.Thr3638=)
|
rs1240569988
|
|
NM_206933.4(USH2A):c.10923A>G (p.Arg3641=)
|
|
|
NM_206933.4(USH2A):c.10924C>A (p.Gln3642Lys)
|
|
|
NM_206933.4(USH2A):c.10924C>T (p.Gln3642Ter)
|
|
|
NM_206933.4(USH2A):c.10926G>A (p.Gln3642=)
|
|
|
NM_206933.4(USH2A):c.10928A>G (p.His3643Arg)
|
rs772499596
|
|
NM_206933.4(USH2A):c.10928A>T (p.His3643Leu)
|
|
|
NM_206933.4(USH2A):c.10932G>C (p.Thr3644=)
|
|
|
NM_206933.4(USH2A):c.10934_10935dup (p.Thr3646fs)
|
|
|
NM_206933.4(USH2A):c.10939+10C>A
|
rs757168605
|
|
NM_206933.4(USH2A):c.10939+10C>T
|
|
|
NM_206933.4(USH2A):c.10939+10del
|
|
|
NM_206933.4(USH2A):c.10939+12A>G
|
|
|
NM_206933.4(USH2A):c.10939+12A>T
|
|
|
NM_206933.4(USH2A):c.10939+16A>G
|
|
|
NM_206933.4(USH2A):c.10939+19A>G
|
|
|
NM_206933.4(USH2A):c.10939+19_10939+20insAC
|
|
|
NM_206933.4(USH2A):c.10939+19del
|
rs751350899
|
|
NM_206933.4(USH2A):c.10939+19dup
|
rs751350899
|
|
NM_206933.4(USH2A):c.10939+20G>A
|
|
|
NM_206933.4(USH2A):c.10939+293A>T
|
|
|
NM_206933.4(USH2A):c.10939+2T>C
|
rs1661573417
|
|
NM_206933.4(USH2A):c.10939+2T>G
|
|
|
NM_206933.4(USH2A):c.10939+5G>A
|
|
|
NM_206933.4(USH2A):c.10939+5G>T
|
|
|
NM_206933.4(USH2A):c.1093C>T (p.Leu365Phe)
|
rs531691537
|
|
NM_206933.4(USH2A):c.10940-10C>G
|
rs939367492
|
|
NM_206933.4(USH2A):c.10940-10C>T
|
|
|
NM_206933.4(USH2A):c.10940-14C>G
|
|
|
NM_206933.4(USH2A):c.10940-14C>T
|
|
|
NM_206933.4(USH2A):c.10940-17T>C
|
|
|
NM_206933.4(USH2A):c.10940-5T>C
|
|
|
NM_206933.4(USH2A):c.10940-6T>C
|
|
|
NM_206933.4(USH2A):c.10940-7T>G
|
|
|
NM_206933.4(USH2A):c.10941T>A (p.Gly3647=)
|
|
|
NM_206933.4(USH2A):c.10944C>T (p.Leu3648=)
|
rs1218907111
|
|
NM_206933.4(USH2A):c.10951T>C (p.Tyr3651His)
|
rs2102748198
|
|
NM_206933.4(USH2A):c.10962C>A (p.Tyr3654Ter)
|
rs1661141590
|
|
NM_206933.4(USH2A):c.10962C>T (p.Tyr3654=)
|
|
|
NM_206933.4(USH2A):c.10971T>G (p.Thr3657=)
|
|
|
NM_206933.4(USH2A):c.10980T>G (p.Ala3660=)
|
|
|
NM_206933.4(USH2A):c.10982del (p.Cys3661fs)
|
rs2102748161
|
|
NM_206933.4(USH2A):c.10983T>C (p.Cys3661=)
|
|
|
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
|
|
|
NM_206933.4(USH2A):c.10994G>A (p.Gly3665Glu)
|
|
|
NM_206933.4(USH2A):c.10995G>A (p.Gly3665=)
|
|
|
NM_206933.4(USH2A):c.10995G>C (p.Gly3665=)
|
|
|
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly)
|
rs766505885
|
|
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)
|
rs1661140054
|
|
NM_206933.4(USH2A):c.10998C>T (p.Cys3666=)
|
|
|
NM_206933.4(USH2A):c.11001T>C (p.Thr3667=)
|
|
|
NM_206933.4(USH2A):c.11004A>G (p.Ser3668=)
|
|
|
NM_206933.4(USH2A):c.11010G>A (p.Glu3670=)
|
rs2102748110
|
|
NM_206933.4(USH2A):c.11011C>G (p.Pro3671Ala)
|
|
|
NM_206933.4(USH2A):c.11012C>T (p.Pro3671Leu)
|
rs1238814587
|
|
NM_206933.4(USH2A):c.11012del (p.Pro3671fs)
|
|
|
NM_206933.4(USH2A):c.11021G>T (p.Gly3674Val)
|
|
|
NM_206933.4(USH2A):c.11022T>G (p.Gly3674=)
|
|
|
NM_206933.4(USH2A):c.11023C>G (p.Gln3675Glu)
|
rs2102748093
|
|
NM_206933.4(USH2A):c.11026A>G (p.Thr3676Ala)
|
|
|
NM_206933.4(USH2A):c.11028A>G (p.Thr3676=)
|
|
|
NM_206933.4(USH2A):c.11034G>A (p.Gln3678=)
|
rs758451890
|
|
NM_206933.4(USH2A):c.11037A>G (p.Ala3679=)
|
|
|
NM_206933.4(USH2A):c.11039C>T (p.Ala3680Val)
|
|
|
NM_206933.4(USH2A):c.11047+10C>A
|
rs778693513
|
|
NM_206933.4(USH2A):c.11047+14del
|
rs1661136770
|
|
NM_206933.4(USH2A):c.11047+15T>A
|
|
|
NM_206933.4(USH2A):c.11047+16C>A
|
|
|
NM_206933.4(USH2A):c.11047+18A>G
|
|
|
NM_206933.4(USH2A):c.11047+20G>A
|
|
|
NM_206933.4(USH2A):c.11047+9A>G
|
rs2102748053
|
|
NM_206933.4(USH2A):c.11048-11A>G
|
|
|
NM_206933.4(USH2A):c.11048-153A>T
|
rs111604711
|
|
NM_206933.4(USH2A):c.11048-16G>A
|
|
|
NM_206933.4(USH2A):c.11048-20C>T
|
|
|
NM_206933.4(USH2A):c.11048-6dup
|
rs2102742395
|
|
NM_206933.4(USH2A):c.11048-9T>C
|
|
|
NM_206933.4(USH2A):c.11048-9T>G
|
rs2102742400
|
|
NM_206933.4(USH2A):c.11054G>C (p.Trp3685Ser)
|
|
|
NM_206933.4(USH2A):c.11056G>T (p.Val3686Leu)
|
rs1418854471
|
|
NM_206933.4(USH2A):c.11061A>G (p.Thr3687=)
|
rs2102742360
|
|
NM_206933.4(USH2A):c.11064T>A (p.Pro3688=)
|
rs1419904063
|
|
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)
|
rs41314534
|
|
NM_206933.4(USH2A):c.11066G>A (p.Arg3689Gln)
|
|
|
NM_206933.4(USH2A):c.11067A>G (p.Arg3689=)
|
|
|
NM_206933.4(USH2A):c.1106T>G (p.Val369Gly)
|
|
|
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn)
|
rs2102742330
|
|
NM_206933.4(USH2A):c.11074del (p.Ile3692fs)
|
rs1660926805
|
|
NM_206933.4(USH2A):c.1107G>T (p.Val369=)
|
|
|
NM_206933.4(USH2A):c.11081A>T (p.Asn3694Ile)
|
|
|
NM_206933.4(USH2A):c.11088A>G (p.Thr3696=)
|
rs2102742314
|
|
NM_206933.4(USH2A):c.11091A>T (p.Thr3697=)
|
|
|
NM_206933.4(USH2A):c.11094G>A (p.Val3698=)
|
|
|
NM_206933.4(USH2A):c.11095G>C (p.Glu3699Gln)
|
rs755804518
|
|
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
|
rs755804518
|
|
NM_206933.4(USH2A):c.11097A>G (p.Glu3699=)
|
rs2102742300
|
|
NM_206933.4(USH2A):c.110T>A (p.Phe37Tyr)
|
|
|
NM_206933.4(USH2A):c.110del (p.Phe37fs)
|
|
|
NM_206933.4(USH2A):c.11103T>A (p.Tyr3701Ter)
|
rs143453173
|
|
NM_206933.4(USH2A):c.11106G>A (p.Trp3702Ter)
|
rs2102742278
|
|
NM_206933.4(USH2A):c.11113C>T (p.Pro3705Ser)
|
rs868610068
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11121G>C (p.Lys3707Asn)
|
|
|
NM_206933.4(USH2A):c.11124C>T (p.Pro3708=)
|
|
|
NM_206933.4(USH2A):c.11126A>G (p.Asn3709Ser)
|
|
|
NM_206933.4(USH2A):c.11127T>G (p.Asn3709Lys)
|
rs149260119
|
|
NM_206933.4(USH2A):c.11133C>G (p.Leu3711=)
|
|
|
NM_206933.4(USH2A):c.11133C>T (p.Leu3711=)
|
rs144718440
|
|
NM_206933.4(USH2A):c.11136T>G (p.Val3712=)
|
rs2102742247
|
|
NM_206933.4(USH2A):c.11146C>A (p.Gln3716Lys)
|
|
|
NM_206933.4(USH2A):c.11146C>T (p.Gln3716Ter)
|
rs771260365
|
|
NM_206933.4(USH2A):c.11149T>C (p.Leu3717=)
|
rs777677207
|
|
NM_206933.4(USH2A):c.11157T>C (p.Arg3719=)
|
|
|
NM_206933.4(USH2A):c.11168T>G (p.Leu3723Trp)
|
rs928040621
|
|
NM_206933.4(USH2A):c.1116A>G (p.Ser372=)
|
rs754923350
|
|
NM_206933.4(USH2A):c.1116A>T (p.Ser372=)
|
rs754923350
|
|
NM_206933.4(USH2A):c.11175C>T (p.Phe3725=)
|
rs1471030252
|
|
NM_206933.4(USH2A):c.11176C>T (p.Leu3726=)
|
|
|
NM_206933.4(USH2A):c.11183G>T (p.Gly3728Val)
|
|
|
NM_206933.4(USH2A):c.11184C>T (p.Gly3728=)
|
rs767204396
|
|
NM_206933.4(USH2A):c.11185A>C (p.Ser3729Arg)
|
|
|
NM_206933.4(USH2A):c.11189del (p.Glu3730fs)
|
rs1660922779
|
|
NM_206933.4(USH2A):c.1118T>C (p.Val373Ala)
|
rs2037707193
|
|
NM_206933.4(USH2A):c.11193G>A (p.Glu3731=)
|
rs1571657825
|
|
NM_206933.4(USH2A):c.11194C>T (p.Gln3732Ter)
|
|
|
NM_206933.4(USH2A):c.11202C>T (p.Phe3734=)
|
|
|
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)
|
|
|
NM_206933.4(USH2A):c.11204C>T (p.Thr3735Ile)
|
|
|
NM_206933.4(USH2A):c.11205T>G (p.Thr3735=)
|
rs2102742171
|
|
NM_206933.4(USH2A):c.11213A>T (p.Asn3738Ile)
|
rs1416382590
|
|
NM_206933.4(USH2A):c.11215C>T (p.Leu3739=)
|
rs2102742157
|
|
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)
|
rs1571657777
|
|
NM_206933.4(USH2A):c.11217G>A (p.Leu3739=)
|
|
|
NM_206933.4(USH2A):c.11226T>C (p.Asn3742=)
|
|
|
NM_206933.4(USH2A):c.11228G>A (p.Ser3743Asn)
|
rs112898958
|
|
NM_206933.4(USH2A):c.11231+12G>T
|
|
|
NM_206933.4(USH2A):c.11231+17C>T
|
|
|
NM_206933.4(USH2A):c.11231+19T>G
|
|
|
NM_206933.4(USH2A):c.11231+1G>A
|
rs111033382
|
|
NM_206933.4(USH2A):c.11231+1G>C
|
rs111033382
|
|
NM_206933.4(USH2A):c.11231+1G>T
|
rs111033382
|
|
NM_206933.4(USH2A):c.11231+8A>G
|
|
|
NM_206933.4(USH2A):c.11231+9A>G
|
|
|
NM_206933.4(USH2A):c.11232-11T>C
|
|
|
NM_206933.4(USH2A):c.11232-14_11232-11del
|
|
|
NM_206933.4(USH2A):c.11232-18C>T
|
|
|
NM_206933.4(USH2A):c.11232-18_11232-16del
|
|
|
NM_206933.4(USH2A):c.11232-1G>A
|
rs2102741367
|
|
NM_206933.4(USH2A):c.11232-1G>C
|
|
|
NM_206933.4(USH2A):c.11232-2A>G
|
|
|
NM_206933.4(USH2A):c.11232-321C>G
|
rs10864196
|
|
NM_206933.4(USH2A):c.11232-5T>A
|
|
|
NM_206933.4(USH2A):c.11233T>C (p.Tyr3745His)
|
|
|
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)
|
rs768062696
|
|
NM_206933.4(USH2A):c.11235C>T (p.Tyr3745=)
|
rs768062696
|
|
NM_206933.4(USH2A):c.11237_11242del (p.Thr3746_Tyr3747del)
|
|
|
NM_206933.4(USH2A):c.1123T>G (p.Leu375Val)
|
|
|
NM_206933.4(USH2A):c.11244G>A (p.Lys3748=)
|
|
|
NM_206933.4(USH2A):c.11256A>G (p.Lys3752=)
|
|
|
NM_206933.4(USH2A):c.11261G>A (p.Gly3754Glu)
|
rs1660888048
|
|
NM_206933.4(USH2A):c.11265T>C (p.Gly3755=)
|
|
|
NM_206933.4(USH2A):c.11266G>A (p.Gly3756Ser)
|
|
|
NM_206933.4(USH2A):c.11267G>A (p.Gly3756Asp)
|
|
|
NM_206933.4(USH2A):c.1126G>T (p.Glu376Ter)
|
rs2102655719
|
|
NM_206933.4(USH2A):c.11271C>T (p.Ser3757=)
|
|
|
NM_206933.4(USH2A):c.11283T>A (p.Asp3761Glu)
|
rs1558085489
|
|
NM_206933.4(USH2A):c.11288_11295del (p.Tyr3763fs)
|
rs2102741288
|
|
NM_206933.4(USH2A):c.11289C>A (p.Tyr3763Ter)
|
|
|
NM_206933.4(USH2A):c.11289C>T (p.Tyr3763=)
|
|
|
NM_206933.4(USH2A):c.11298A>G (p.Gln3766=)
|
|
|
NM_206933.4(USH2A):c.11301A>G (p.Thr3767=)
|
|
|
NM_206933.4(USH2A):c.1130del (p.Asn377fs)
|
|
|
NM_206933.4(USH2A):c.11310A>G (p.Ser3770=)
|
rs906817546
|
|
NM_206933.4(USH2A):c.11313A>G (p.Thr3771=)
|
rs1218823336
|
|
NM_206933.4(USH2A):c.11319A>G (p.Glu3773=)
|
rs1477431730
|
|
NM_206933.4(USH2A):c.11326T>C (p.Tyr3776His)
|
rs2102741250
|
|
NM_206933.4(USH2A):c.11327A>G (p.Tyr3776Cys)
|
rs926540982
|
|
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310
|
|
NM_206933.4(USH2A):c.11328T>G (p.Tyr3776Ter)
|
|
|
NM_206933.4(USH2A):c.11334A>C (p.Pro3778=)
|
rs780407547
|
|
NM_206933.4(USH2A):c.11336A>C (p.Tyr3779Ser)
|
|
|
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs)
|
rs762070900
|
|
NM_206933.4(USH2A):c.11337T>C (p.Tyr3779=)
|
rs2102741239
|
|
NM_206933.4(USH2A):c.11338A>C (p.Asn3780His)
|
|
|
NM_206933.4(USH2A):c.11349A>G (p.Val3783=)
|
rs967676683
|
|
NM_206933.4(USH2A):c.1134A>G (p.Gly378=)
|
rs2102655700
|
|
NM_206933.4(USH2A):c.11355G>C (p.Gly3785=)
|
rs1025644039
|
|
NM_206933.4(USH2A):c.11358T>G (p.Pro3786=)
|
|
|
NM_206933.4(USH2A):c.1135C>T (p.Gln379Ter)
|
|
|
NM_206933.4(USH2A):c.11361T>A (p.Tyr3787Ter)
|
rs1660884486
|
|
NM_206933.4(USH2A):c.11367A>G (p.Ile3789Met)
|
|
|
NM_206933.4(USH2A):c.11373A>C (p.Val3791=)
|
rs2102741193
|
|
NM_206933.4(USH2A):c.11377T>C (p.Trp3793Arg)
|
rs895291691
|
|
NM_206933.4(USH2A):c.11377T>G (p.Trp3793Gly)
|
|
|
NM_206933.4(USH2A):c.11380A>G (p.Ile3794Val)
|
rs1660883552
|
|
NM_206933.4(USH2A):c.11383C>T (p.Pro3795Ser)
|
rs1421953363
|
|
NM_206933.4(USH2A):c.11387C>T (p.Pro3796Leu)
|
|
|
NM_206933.4(USH2A):c.11389+10A>G
|
rs2102741128
|
|
NM_206933.4(USH2A):c.11389+11_11389+14del
|
|
|
NM_206933.4(USH2A):c.11389+12A>G
|
|
|
NM_206933.4(USH2A):c.11389+12_11389+14del
|
rs79494833
|
|
NM_206933.4(USH2A):c.11389+13_11389+14dup
|
rs79494833
|
|
NM_206933.4(USH2A):c.11389+14A>G
|
|
|
NM_206933.4(USH2A):c.11389+14_11389+17del
|
|
|
NM_206933.4(USH2A):c.11389+14del
|
rs79494833
|
|
NM_206933.4(USH2A):c.11389+15G>A
|
|
|
NM_206933.4(USH2A):c.11389+16_11389+18del
|
|
|
NM_206933.4(USH2A):c.11389+17_11389+20del
|
|
|
NM_206933.4(USH2A):c.11389+17del
|
|
|
NM_206933.4(USH2A):c.11389+18G>T
|
|
|
NM_206933.4(USH2A):c.11389+1G>A
|
rs368770647
|
|
NM_206933.4(USH2A):c.11389+1G>C
|
|
|
NM_206933.4(USH2A):c.11389+1del
|
rs1414935620
|
|
NM_206933.4(USH2A):c.11389+20A>G
|
|
|
NM_206933.4(USH2A):c.11389+2T>C
|
rs1192810508
|
|
NM_206933.4(USH2A):c.11389+2T>G
|
|
|
NM_206933.4(USH2A):c.11389+2del
|
rs2102741149
|
|
NM_206933.4(USH2A):c.11389+307_11389+308del
|
rs34577448
|
|
NM_206933.4(USH2A):c.11389+308del
|
rs34577448
|
|
NM_206933.4(USH2A):c.11389+3dup
|
rs79494833
|
|
NM_206933.4(USH2A):c.11389+9A>G
|
|
|
NM_206933.4(USH2A):c.11389G>A (p.Gly3797Arg)
|
rs1413394539
|
|
NM_206933.4(USH2A):c.11390-10C>G
|
rs750110818
|
|
NM_206933.4(USH2A):c.11390-112_11390-111insACACACACA
|
rs1558078840
|
|
NM_206933.4(USH2A):c.11390-116_11390-111del
|
rs1285252594
|
|
NM_206933.4(USH2A):c.11390-11T>C
|
|
|
NM_206933.4(USH2A):c.11390-12C>G
|
|
|
NM_206933.4(USH2A):c.11390-12C>T
|
|
|
NM_206933.4(USH2A):c.11390-15T>G
|
|
|
NM_206933.4(USH2A):c.11390-16C>G
|
|
|
NM_206933.4(USH2A):c.11390-16C>T
|
|
|
NM_206933.4(USH2A):c.11390-18C>G
|
|
|
NM_206933.4(USH2A):c.11390-18C>T
|
|
|
NM_206933.4(USH2A):c.11390-18_11390-17insCC
|
|
|
NM_206933.4(USH2A):c.11390-1G>A
|
rs2102727580
|
|
NM_206933.4(USH2A):c.11390-24CT[10]
|
rs140003076
|
|
NM_206933.4(USH2A):c.11390-24CT[11]
|
rs140003076
|
|
NM_206933.4(USH2A):c.11390-24CT[14]
|
|
|
NM_206933.4(USH2A):c.11390-24CT[6]
|
rs140003076
|
|
NM_206933.4(USH2A):c.11390-24CT[7]
|
rs140003076
|
|
NM_206933.4(USH2A):c.11390-24CT[8]
|
rs140003076
|
|
NM_206933.4(USH2A):c.11390-2del
|
rs760100733
|
|
NM_206933.4(USH2A):c.11390-52AT[11]
|
rs376081393
|
|
NM_206933.4(USH2A):c.11390-52AT[13]
|
rs376081393
|
|
NM_206933.4(USH2A):c.11390-52AT[9]
|
rs376081393
|
|
NM_206933.4(USH2A):c.11390-5dup
|
|
|
NM_206933.4(USH2A):c.11390-74_11390-73insATATATAT
|
rs1189390760
|
|
NM_206933.4(USH2A):c.11390-76_11390-75insATATAT
|
rs375716749
|
|
NM_206933.4(USH2A):c.11390-76_11390-75insATATATAT
|
rs375716749
|
|
NM_206933.4(USH2A):c.11390-77C>G
|
rs371129778
|
|
NM_206933.4(USH2A):c.11390-79C>T
|
rs376300286
|
|
NM_206933.4(USH2A):c.11390-81C>T
|
rs377724243
|
|
NM_206933.4(USH2A):c.11390-82_11390-81insATAC
|
rs1491186893
|
|
NM_206933.4(USH2A):c.11390-82_11390-81insATACAC
|
rs1491186893
|
|
NM_206933.4(USH2A):c.11390-8C>G
|
rs1312489837
|
|
NM_206933.4(USH2A):c.11390-8C>T
|
rs1312489837
|
|
NM_206933.4(USH2A):c.11390-90_11390-89insACACAC
|
rs1298968214
|
|
NM_206933.4(USH2A):c.11390-93T>A
|
|
|
NM_206933.4(USH2A):c.11390-93TA[7]
|
rs1263179301
|
|
NM_206933.4(USH2A):c.11394C>T (p.Ile3798=)
|
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.11415G>C (p.Val3805=)
|
rs2102727548
|
|
NM_206933.4(USH2A):c.11416G>T (p.Glu3806Ter)
|
|
|
NM_206933.4(USH2A):c.11420A>G (p.Tyr3807Cys)
|
|
|
NM_206933.4(USH2A):c.11421C>A (p.Tyr3807Ter)
|
|
|
NM_206933.4(USH2A):c.11424T>C (p.Asn3808=)
|
rs2102727539
|
|
NM_206933.4(USH2A):c.11427C>G (p.Val3809=)
|
|
|
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg)
|
rs1553250774
|
|
NM_206933.4(USH2A):c.1143+13G>A
|
|
|
NM_206933.4(USH2A):c.1143+18G>C
|
rs2037706237
|
|
NM_206933.4(USH2A):c.1143+19G>T
|
|
|
NM_206933.4(USH2A):c.1143+20T>G
|
|
|
NM_206933.4(USH2A):c.1143+2T>G
|
|
|
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs)
|
rs1553257705
|
|
NM_206933.4(USH2A):c.11438A>T (p.Asp3813Val)
|
rs140483214
|
|
NM_206933.4(USH2A):c.11439T>C (p.Asp3813=)
|
rs2102727512
|
|
NM_206933.4(USH2A):c.1144-10C>T
|
rs749223605
|
|
NM_206933.4(USH2A):c.1144-11dup
|
|
|
NM_206933.4(USH2A):c.1144-16A>C
|
|
|
NM_206933.4(USH2A):c.1144-16A>T
|
rs919792106
|
|
NM_206933.4(USH2A):c.1144-28A>C
|
rs2102654460
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.1144-7T>C
|
rs1571702458
|
|
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)
|
rs727505337
|
|
NM_206933.4(USH2A):c.11444G>C (p.Ser3815Thr)
|
rs1660357497
|
|
NM_206933.4(USH2A):c.11448_11449insTGTGT (p.Thr3817fs)
|
|
|
NM_206933.4(USH2A):c.11460C>A (p.Ala3820=)
|
rs1216411092
|
|
NM_206933.4(USH2A):c.1146G>A (p.Val382=)
|
|
|
NM_206933.4(USH2A):c.11472T>C (p.Gly3824=)
|
|
|
NM_206933.4(USH2A):c.11481A>G (p.Gln3827=)
|
|
|
NM_206933.4(USH2A):c.11487C>G (p.Thr3829=)
|
rs2102727440
|
|
NM_206933.4(USH2A):c.11487C>T (p.Thr3829=)
|
rs2102727440
|
|
NM_206933.4(USH2A):c.11488C>G (p.Leu3830Val)
|
rs2102727434
|
|
NM_206933.4(USH2A):c.11488C>T (p.Leu3830Phe)
|
|
|
NM_206933.4(USH2A):c.11488_11492del (p.Leu3830fs)
|
|
|
NM_206933.4(USH2A):c.11490T>G (p.Leu3830=)
|
rs1392671925
|
|
NM_206933.4(USH2A):c.11499T>C (p.Asn3833=)
|
rs1292934649
|
|
NM_206933.4(USH2A):c.114A>G (p.Pro38=)
|
|
|
NM_206933.4(USH2A):c.11511C>T (p.Phe3837=)
|
rs2102727398
|
|
NM_206933.4(USH2A):c.11515C>T (p.Gln3839Ter)
|
rs2102727387
|
|
NM_206933.4(USH2A):c.11520T>C (p.Tyr3840=)
|
rs2102727370
|
|
NM_206933.4(USH2A):c.11527A>C (p.Arg3843=)
|
|
|
NM_206933.4(USH2A):c.1152T>C (p.Tyr384=)
|
|
|
NM_206933.4(USH2A):c.1152T>G (p.Tyr384Ter)
|
|
|
NM_206933.4(USH2A):c.11531T>A (p.Ile3844Lys)
|
rs1210976361
|
|
NM_206933.4(USH2A):c.11532A>G (p.Ile3844Met)
|
|
|
NM_206933.4(USH2A):c.11533C>T (p.Gln3845Ter)
|
|
|
NM_206933.4(USH2A):c.11535A>G (p.Gln3845=)
|
rs1571641137
|
|
NM_206933.4(USH2A):c.1153_1157del (p.Ile385fs)
|
rs2102654383
|
|
NM_206933.4(USH2A):c.11547T>C (p.Asn3849=)
|
|
|
NM_206933.4(USH2A):c.11548+14A>G
|
|
|
NM_206933.4(USH2A):c.11548+15G>A
|
|
|
NM_206933.4(USH2A):c.11548+16A>C
|
|
|
NM_206933.4(USH2A):c.11548+16A>G
|
rs545402848
|
|
NM_206933.4(USH2A):c.11548+17C>A
|
|
|
NM_206933.4(USH2A):c.11548+18A>G
|
|
|
NM_206933.4(USH2A):c.11548+19C>G
|
|
|
NM_206933.4(USH2A):c.11548+19C>T
|
rs2102727294
|
|
NM_206933.4(USH2A):c.11548+2T>G
|
rs1371160062
|
|
NM_206933.4(USH2A):c.11548+3_11548+7dup
|
|
|
NM_206933.4(USH2A):c.11548+4A>G
|
rs1286331476
|
|
NM_206933.4(USH2A):c.11548+6dup
|
|
|
NM_206933.4(USH2A):c.11549-13T>G
|
|
|
NM_206933.4(USH2A):c.11549-16T>A
|
|
|
NM_206933.4(USH2A):c.11549-17A>G
|
|
|
NM_206933.4(USH2A):c.11549-18A>G
|
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11549-1G>T
|
|
|
NM_206933.4(USH2A):c.11549-4_11549del
|
rs2102725799
|
|
NM_206933.4(USH2A):c.11549-5T>C
|
|
|
NM_206933.4(USH2A):c.11549-5del
|
rs34565443
|
|
NM_206933.4(USH2A):c.11549-5dup
|
rs34565443
|
|
NM_206933.4(USH2A):c.11549-6_11549-5del
|
rs34565443
|
|
NM_206933.4(USH2A):c.11549-7T>G
|
rs1660305593
|
|
NM_206933.4(USH2A):c.11549del
|
rs1660304704
|
|
NM_206933.4(USH2A):c.11556T>A (p.Cys3852Ter)
|
|
|
NM_206933.4(USH2A):c.11564del (p.Ser3855fs)
|
|
|
NM_206933.4(USH2A):c.11566del (p.Ser3856fs)
|
|
|
NM_206933.4(USH2A):c.11569A>G (p.Arg3857Gly)
|
|
|
NM_206933.4(USH2A):c.1156A>G (p.Ile386Val)
|
rs2037685831
|
|
NM_206933.4(USH2A):c.11571G>A (p.Arg3857=)
|
|
|
NM_206933.4(USH2A):c.11582A>G (p.Lys3861Arg)
|
|
|
NM_206933.4(USH2A):c.11585C>T (p.Thr3862Ile)
|
|
|
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)
|
rs1064797132
|
|
NM_206933.4(USH2A):c.11595A>G (p.Ala3865=)
|
rs775276138
|
|
NM_206933.4(USH2A):c.11598C>T (p.Ala3866=)
|
|
|
NM_206933.4(USH2A):c.11601A>C (p.Pro3867=)
|
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu)
|
rs35309576
|
|
NM_206933.4(USH2A):c.1160T>C (p.Ile387Thr)
|
|
|
NM_206933.4(USH2A):c.11615C>A (p.Ser3872Tyr)
|
|
|
NM_206933.4(USH2A):c.11617_11619del (p.Pro3873del)
|
rs747695930
|
|
NM_206933.4(USH2A):c.1161T>C (p.Ile387=)
|
rs2102654360
|
|
NM_206933.4(USH2A):c.11625T>G (p.Leu3875=)
|
rs1462312577
|
|
NM_206933.4(USH2A):c.11628G>A (p.Lys3876=)
|
|
|
NM_206933.4(USH2A):c.11630C>T (p.Ala3877Val)
|
rs771925133
|
|
NM_206933.4(USH2A):c.11637G>T (p.Gly3879=)
|
|
|
NM_206933.4(USH2A):c.1163A>G (p.Gln388Arg)
|
|
|
NM_206933.4(USH2A):c.11654T>C (p.Ile3885Thr)
|
|
|
NM_206933.4(USH2A):c.11655T>A (p.Ile3885=)
|
|
|
NM_206933.4(USH2A):c.11659T>G (p.Trp3887Gly)
|
rs1660298981
|
|
NM_206933.4(USH2A):c.11660G>A (p.Trp3887Ter)
|
rs1660298900
|
|
NM_206933.4(USH2A):c.11665C>G (p.Pro3889Ala)
|
rs1660298579
|
|
NM_206933.4(USH2A):c.11667A>C (p.Pro3889=)
|
|
|
NM_206933.4(USH2A):c.11669C>A (p.Pro3890His)
|
rs2102725604
|
|
NM_206933.4(USH2A):c.11679A>T (p.Pro3893=)
|
|
|
NM_206933.4(USH2A):c.1167C>A (p.Phe389Leu)
|
|
|
NM_206933.4(USH2A):c.11682T>C (p.Asn3894=)
|
|
|
NM_206933.4(USH2A):c.11683G>A (p.Gly3895Arg)
|
|
|
NM_206933.4(USH2A):c.11684G>C (p.Gly3895Ala)
|
rs1472714005
|
|
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)
|
rs727504714
|
|
NM_206933.4(USH2A):c.11694C>T (p.Ile3898=)
|
rs2102725564
|
|
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.116G>A (p.Arg39Lys)
|
rs2102789073
|
|
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter)
|
rs1553257498
|
|
NM_206933.4(USH2A):c.11700C>T (p.Tyr3900=)
|
rs1553257498
|
|
NM_206933.4(USH2A):c.11706T>C (p.Ile3902=)
|
rs2102725538
|
|
NM_206933.4(USH2A):c.11709C>G (p.Tyr3903Ter)
|
rs1325668081
|
|
NM_206933.4(USH2A):c.11709C>T (p.Tyr3903=)
|
|
|
NM_206933.4(USH2A):c.1170T>C (p.Phe390=)
|
rs751653433
|
|
NM_206933.4(USH2A):c.11711+13G>A
|
|
|
NM_206933.4(USH2A):c.11711+6A>G
|
rs776220540
|
|
NM_206933.4(USH2A):c.11711+6A>T
|
|
|
NM_206933.4(USH2A):c.11711+7T>C
|
|
|
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
|
|
|
NM_206933.4(USH2A):c.11712-2A>C
|
rs753505333
|
|
NM_206933.4(USH2A):c.11712-3C>G
|
rs2102713855
|
|
NM_206933.4(USH2A):c.11712-5T>G
|
|
|
NM_206933.4(USH2A):c.11712-7C>T
|
rs2102713862
|
|
NM_206933.4(USH2A):c.11712-8C>A
|
|
|
NM_206933.4(USH2A):c.11712-8C>G
|
rs376351199
|
|
NM_206933.4(USH2A):c.11712-9T>G
|
|
|
NM_206933.4(USH2A):c.11712A>G (p.Arg3904=)
|
|
|
NM_206933.4(USH2A):c.11715C>A (p.Arg3905=)
|
|
|
NM_206933.4(USH2A):c.11715C>G (p.Arg3905=)
|
rs1285626949
|
|
NM_206933.4(USH2A):c.11724_11725del (p.Gly3908_Ile3909insTer)
|
rs1659895310
|
|
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)
|
rs1436435041
|
|
NM_206933.4(USH2A):c.11733G>T (p.Glu3911Asp)
|
|
|
NM_206933.4(USH2A):c.11738C>A (p.Ser3913Tyr)
|
|
|
NM_206933.4(USH2A):c.1173T>A (p.Ser391Arg)
|
|
|
NM_206933.4(USH2A):c.11743T>C (p.Leu3915=)
|
rs1418302113
|
|
NM_206933.4(USH2A):c.11745_11748del (p.Phe3916fs)
|
rs2102713794
|
|
NM_206933.4(USH2A):c.1174C>T (p.Pro392Ser)
|
|
|
NM_206933.4(USH2A):c.11751C>G (p.Val3917=)
|
|
|
NM_206933.4(USH2A):c.11756C>G (p.Ser3919Ter)
|
|
|
NM_206933.4(USH2A):c.11762G>A (p.Gly3921Glu)
|
|
|
NM_206933.4(USH2A):c.11764G>A (p.Ala3922Thr)
|
rs745965437
|
|
NM_206933.4(USH2A):c.11765C>A (p.Ala3922Asp)
|
rs2102713765
|
|
NM_206933.4(USH2A):c.11766C>A (p.Ala3922=)
|
rs2102713763
|
|
NM_206933.4(USH2A):c.11766C>T (p.Ala3922=)
|
|
|
NM_206933.4(USH2A):c.11770G>T (p.Glu3924Ter)
|
|
|
NM_206933.4(USH2A):c.11784A>T (p.Glu3928Asp)
|
rs1659892808
|
|
NM_206933.4(USH2A):c.11787A>G (p.Gly3929=)
|
rs1283627095
|
|
NM_206933.4(USH2A):c.11793C>G (p.Thr3931=)
|
|
|
NM_206933.4(USH2A):c.11793C>T (p.Thr3931=)
|
rs2102713730
|
|
NM_206933.4(USH2A):c.117G>C (p.Arg39Ser)
|
|
|
NM_206933.4(USH2A):c.11806A>C (p.Thr3936Pro)
|
rs2102713705
|
|
NM_206933.4(USH2A):c.11811_11812del (p.Tyr3938fs)
|
|
|
NM_206933.4(USH2A):c.11812T>C (p.Tyr3938His)
|
rs753038400
|
|
NM_206933.4(USH2A):c.11813A>G (p.Tyr3938Cys)
|
|
|
NM_206933.4(USH2A):c.11814C>T (p.Tyr3938=)
|
rs766042296
|
|
NM_206933.4(USH2A):c.11815_11816dup (p.Tyr3940fs)
|
rs2102713688
|
|
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs)
|
rs1659891151
|
|
NM_206933.4(USH2A):c.1181C>G (p.Pro394Arg)
|
rs775922302
|
|
NM_206933.4(USH2A):c.11821C>A (p.Arg3941=)
|
|
|
NM_206933.4(USH2A):c.11821C>G (p.Arg3941Gly)
|
rs749942414
|
|
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile)
|
rs1659890930
|
|
NM_206933.4(USH2A):c.11824del (p.Val3942fs)
|
|
|
NM_206933.4(USH2A):c.11824dup (p.Val3942fs)
|
rs1659891000
|
|
NM_206933.4(USH2A):c.11828G>C (p.Arg3943Thr)
|
|
|
NM_206933.4(USH2A):c.11829_11851del (p.Arg3943fs)
|
rs2102713621
|
|
NM_206933.4(USH2A):c.11832C>T (p.Ala3944=)
|
rs2102713648
|
|
NM_206933.4(USH2A):c.11833_11835delinsGGGTCAG (p.Cys3945fs)
|
|
|
NM_206933.4(USH2A):c.11834G>A (p.Cys3945Tyr)
|
|
|
NM_206933.4(USH2A):c.11841C>T (p.Ser3947=)
|
|
|
NM_206933.4(USH2A):c.11842A>G (p.Lys3948Glu)
|
rs1659890171
|
|
NM_206933.4(USH2A):c.11850A>G (p.Ser3950=)
|
rs2102713626
|
|
NM_206933.4(USH2A):c.11856G>C (p.Glu3952Asp)
|
|
|
NM_206933.4(USH2A):c.11856G>T (p.Glu3952Asp)
|
|
|
NM_206933.4(USH2A):c.11862G>C (p.Leu3954=)
|
rs1486960561
|
|
NM_206933.4(USH2A):c.11864_11866dup (p.Trp3955_Ser3956insTrp)
|
|
|
NM_206933.4(USH2A):c.11865G>A (p.Trp3955Ter)
|
|
|
NM_206933.4(USH2A):c.11867C>G (p.Ser3956Ter)
|
rs754104931
|
|
NM_206933.4(USH2A):c.11868A>C (p.Ser3956=)
|
rs2102713589
|
|
NM_206933.4(USH2A):c.11875C>T (p.Gln3959Ter)
|
rs2102713573
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.11880T>A (p.Thr3960=)
|
rs2102713562
|
|
NM_206933.4(USH2A):c.11880T>C (p.Thr3960=)
|
|
|
NM_206933.4(USH2A):c.11881_11882del (p.Leu3961fs)
|
|
|
NM_206933.4(USH2A):c.11904T>C (p.Phe3968=)
|
rs946257764
|
|
NM_206933.4(USH2A):c.11913T>G (p.Pro3971=)
|
|
|
NM_206933.4(USH2A):c.11922A>G (p.Gln3974=)
|
|
|
NM_206933.4(USH2A):c.11928G>T (p.Thr3976=)
|
|
|
NM_206933.4(USH2A):c.11931T>C (p.Ser3977=)
|
|
|
NM_206933.4(USH2A):c.11934T>G (p.Ala3978=)
|
rs2102713471
|
|
NM_206933.4(USH2A):c.11936A>G (p.His3979Arg)
|
|
|
NM_206933.4(USH2A):c.1193G>T (p.Arg398Met)
|
rs1329126988
|
|
NM_206933.4(USH2A):c.11943del (p.Leu3982fs)
|
|
|
NM_206933.4(USH2A):c.11947T>C (p.Leu3983=)
|
|
|
NM_206933.4(USH2A):c.1194G>A (p.Arg398=)
|
rs1571702290
|
|
NM_206933.4(USH2A):c.11952T>C (p.Asn3984=)
|
rs145924817
|
|
NM_206933.4(USH2A):c.11955G>A (p.Trp3985Ter)
|
rs942584750
|
|
NM_206933.4(USH2A):c.11960A>T (p.Lys3987Met)
|
rs2102713432
|
|
NM_206933.4(USH2A):c.11976T>C (p.Asn3992=)
|
rs1659882123
|
|
NM_206933.4(USH2A):c.11978_11979delinsTT (p.Gly3993Val)
|
|
|
NM_206933.4(USH2A):c.11985C>T (p.Ile3995=)
|
|
|
NM_206933.4(USH2A):c.11987C>G (p.Ser3996Cys)
|
rs772463134
|
|
NM_206933.4(USH2A):c.11996G>A (p.Arg3999His)
|
|
|
NM_206933.4(USH2A):c.1199A>G (p.Gln400Arg)
|
|
|
NM_206933.4(USH2A):c.12006C>A (p.Tyr4002Ter)
|
rs2102713360
|
|
NM_206933.4(USH2A):c.1200A>G (p.Gln400=)
|
|
|
NM_206933.4(USH2A):c.12012G>A (p.Glu4004=)
|
|
|
NM_206933.4(USH2A):c.12016C>T (p.Pro4006Ser)
|
|
|
NM_206933.4(USH2A):c.12019G>A (p.Asp4007Asn)
|
|
|
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn)
|
rs866937010
|
|
NM_206933.4(USH2A):c.12027T>A (p.Pro4009=)
|
rs752752496
|
|
NM_206933.4(USH2A):c.12027T>C (p.Pro4009=)
|
rs752752496
|
|
NM_206933.4(USH2A):c.12030A>G (p.Thr4010=)
|
rs1659879917
|
|
NM_206933.4(USH2A):c.1203G>A (p.Arg401=)
|
rs1571702261
|
|
NM_206933.4(USH2A):c.12045C>A (p.Thr4015=)
|
rs755924483
|
|
NM_206933.4(USH2A):c.12045C>G (p.Thr4015=)
|
|
|
NM_206933.4(USH2A):c.12048G>A (p.Val4016=)
|
|
|
NM_206933.4(USH2A):c.12060A>G (p.Thr4020=)
|
|
|
NM_206933.4(USH2A):c.12063G>A (p.Val4021=)
|
|
|
NM_206933.4(USH2A):c.12063G>C (p.Val4021=)
|
rs1571626440
|
|
NM_206933.4(USH2A):c.12066+12T>C
|
|
|
NM_206933.4(USH2A):c.12066+12del
|
|
|
NM_206933.4(USH2A):c.12066+14G>A
|
|
|
NM_206933.4(USH2A):c.12066+17A>G
|
|
|
NM_206933.4(USH2A):c.12066+19G>C
|
|
|
NM_206933.4(USH2A):c.12066+1G>A
|
rs2102713275
|
|
NM_206933.4(USH2A):c.12066+305del
|
rs35895995
|
|
NM_206933.4(USH2A):c.12066+3_12066+4del
|
|
|
NM_206933.4(USH2A):c.12066+7C>A
|
rs2102713254
|
|
NM_206933.4(USH2A):c.12066+8C>T
|
|
|
NM_206933.4(USH2A):c.12066+9C>T
|
|
|
NM_206933.4(USH2A):c.12066G>T (p.Lys4022Asn)
|
|
|
NM_206933.4(USH2A):c.12067-10T>G
|
rs1025072326
|
|
NM_206933.4(USH2A):c.12067-14T>A
|
|
|
NM_206933.4(USH2A):c.12067-16G>A
|
rs2102671958
|
|
NM_206933.4(USH2A):c.12067-17T>C
|
|
|
NM_206933.4(USH2A):c.12067-182C>G
|
rs4375237
|
|
NM_206933.4(USH2A):c.12067-1G>C
|
rs397517977
|
|
NM_206933.4(USH2A):c.12067-2A>C
|
|
|
NM_206933.4(USH2A):c.12067-31del
|
rs5780842
|
|
NM_206933.4(USH2A):c.12067-32_12067-31del
|
rs5780842
|
|
NM_206933.4(USH2A):c.12067-4A>G
|
rs1558051325
|
|
NM_206933.4(USH2A):c.12067-5T>A
|
rs774365783
|
|
NM_206933.4(USH2A):c.1206G>A (p.Lys402=)
|
rs2102654234
|
|
NM_206933.4(USH2A):c.1206G>T (p.Lys402Asn)
|
|
|
NM_206933.4(USH2A):c.12075C>G (p.Ser4025Arg)
|
|
|
NM_206933.4(USH2A):c.12078T>C (p.His4026=)
|
|
|
NM_206933.4(USH2A):c.12081A>C (p.Gln4027His)
|
|
|
NM_206933.4(USH2A):c.12085del (p.His4029fs)
|
|
|
NM_206933.4(USH2A):c.12086dup (p.His4029fs)
|
|
|
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val)
|
rs141528682
|
|
NM_206933.4(USH2A):c.12090G>A (p.Leu4030=)
|
|
|
NM_206933.4(USH2A):c.12090G>C (p.Leu4030=)
|
rs1658186487
|
|
NM_206933.4(USH2A):c.12093C>A (p.Tyr4031Ter)
|
rs55921307
|
|
NM_206933.4(USH2A):c.12093del (p.Leu4030_Tyr4031insTer)
|
rs1658186071
|
|
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg)
|
rs908265742
|
|
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val)
|
rs878853409
|
|
NM_206933.4(USH2A):c.12096G>T (p.Gly4032=)
|
|
|
NM_206933.4(USH2A):c.1209G>A (p.Lys403=)
|
|
|
NM_206933.4(USH2A):c.12100G>T (p.Glu4034Ter)
|
rs794729203
|
|
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
|
|
|
NM_206933.4(USH2A):c.12105A>G (p.Pro4035=)
|
|
|
NM_206933.4(USH2A):c.12109A>C (p.Thr4037Pro)
|
rs778499057
|
|
NM_206933.4(USH2A):c.1210G>A (p.Glu404Lys)
|
|
|
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs)
|
rs1571953449
|
|
NM_206933.4(USH2A):c.12117T>C (p.Tyr4039=)
|
|
|
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
|
|
|
NM_206933.4(USH2A):c.12119G>A (p.Arg4040His)
|
|
|
NM_206933.4(USH2A):c.12120C>A (p.Arg4040=)
|
|
|
NM_206933.4(USH2A):c.12122T>C (p.Ile4041Thr)
|
rs1558051246
|
|
NM_206933.4(USH2A):c.12126T>C (p.Gly4042=)
|
|
|
NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del)
|
rs1553252937
|
|
NM_206933.4(USH2A):c.12129T>C (p.Val4043=)
|
rs2102671838
|
|
NM_206933.4(USH2A):c.12131T>A (p.Val4044Glu)
|
|
|
NM_206933.4(USH2A):c.1213A>G (p.Asn405Asp)
|
|
|
NM_206933.4(USH2A):c.12141C>T (p.Asn4047=)
|
rs764099898
|
|
NM_206933.4(USH2A):c.12145G>T (p.Ala4049Ser)
|
|
|
NM_206933.4(USH2A):c.12147A>G (p.Ala4049=)
|
rs1405441277
|
|
NM_206933.4(USH2A):c.1214A>T (p.Asn405Ile)
|
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12154del (p.Ile4052fs)
|
|
|
NM_206933.4(USH2A):c.12164del (p.Pro4055fs)
|
rs2102671802
|
|
NM_206933.4(USH2A):c.12165T>C (p.Pro4055=)
|
rs765642761
|
|
NM_206933.4(USH2A):c.1216A>G (p.Ser406Gly)
|
|
|
NM_206933.4(USH2A):c.12171T>C (p.Thr4057=)
|
|
|
NM_206933.4(USH2A):c.12172_12174delinsTAAA (p.Leu4058Ter)
|
|
|
NM_206933.4(USH2A):c.12183C>T (p.Thr4061=)
|
rs1475985488
|
|
NM_206933.4(USH2A):c.12186A>G (p.Leu4062=)
|
rs1373278549
|
|
NM_206933.4(USH2A):c.1218T>C (p.Ser406=)
|
rs2037682584
|
|
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe)
|
|
|
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
|
|
|
NM_206933.4(USH2A):c.12199A>G (p.Ser4067Gly)
|
|
|
NM_206933.4(USH2A):c.12202G>T (p.Gly4068Ter)
|
rs1430838005
|
|
NM_206933.4(USH2A):c.12218T>C (p.Ile4073Thr)
|
|
|
NM_206933.4(USH2A):c.12225A>G (p.Glu4075=)
|
rs2102671749
|
|
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
NM_206933.4(USH2A):c.12237T>C (p.Asn4079=)
|
|
|
NM_206933.4(USH2A):c.12239G>T (p.Gly4080Val)
|
|
|
NM_206933.4(USH2A):c.12241C>A (p.Arg4081=)
|
|
|
NM_206933.4(USH2A):c.12246A>G (p.Ala4082=)
|
|
|
NM_206933.4(USH2A):c.12252A>C (p.Leu4084=)
|
rs769567795
|
|
NM_206933.4(USH2A):c.12252A>G (p.Leu4084=)
|
rs769567795
|
|
NM_206933.4(USH2A):c.12252A>T (p.Leu4084=)
|
|
|
NM_206933.4(USH2A):c.12253C>T (p.Leu4085=)
|
|
|
NM_206933.4(USH2A):c.12253dup (p.Leu4085fs)
|
|
|
NM_206933.4(USH2A):c.12255A>G (p.Leu4085=)
|
|
|
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
|
|
|
NM_206933.4(USH2A):c.12265G>A (p.Glu4089Lys)
|
rs1658179050
|
|
NM_206933.4(USH2A):c.12266A>T (p.Glu4089Val)
|
|
|
NM_206933.4(USH2A):c.12267A>T (p.Glu4089Asp)
|
|
|
NM_206933.4(USH2A):c.12269C>G (p.Pro4090Arg)
|
rs1658178709
|
|
NM_206933.4(USH2A):c.12269C>T (p.Pro4090Leu)
|
|
|
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)
|
rs2037682180
|
|
NM_206933.4(USH2A):c.12271A>G (p.Met4091Val)
|
rs144168442
|
|
NM_206933.4(USH2A):c.12271A>T (p.Met4091Leu)
|
rs144168442
|
|
NM_206933.4(USH2A):c.12274del (p.Arg4092fs)
|
rs1558051141
|
|
NM_206933.4(USH2A):c.12282T>A (p.Asn4094Lys)
|
|
|
NM_206933.4(USH2A):c.12288G>A (p.Val4096=)
|
rs2102671651
|
|
NM_206933.4(USH2A):c.12288G>T (p.Val4096=)
|
|
|
NM_206933.4(USH2A):c.12289A>G (p.Ile4097Val)
|
|
|
NM_206933.4(USH2A):c.1228G>T (p.Glu410Ter)
|
rs1571702193
|
|
NM_206933.4(USH2A):c.12294+10A>G
|
|
|
NM_206933.4(USH2A):c.12294+14T>G
|
|
|
NM_206933.4(USH2A):c.12294+15G>C
|
|
|
NM_206933.4(USH2A):c.12294+17A>G
|
|
|
NM_206933.4(USH2A):c.12294+1G>C
|
rs111033526
|
|
NM_206933.4(USH2A):c.12294+2T>C
|
rs2102671641
|
|
NM_206933.4(USH2A):c.12294+9T>C
|
rs2102671638
|
|
NM_206933.4(USH2A):c.12294G>A (p.Lys4098=)
|
|
|
NM_206933.4(USH2A):c.12295-10C>G
|
|
|
NM_206933.4(USH2A):c.12295-10C>T
|
|
|
NM_206933.4(USH2A):c.12295-12G>A
|
|
|
NM_206933.4(USH2A):c.12295-13T>C
|
|
|
NM_206933.4(USH2A):c.12295-6C>T
|
|
|
NM_206933.4(USH2A):c.12295-8T>C
|
rs2102667221
|
|
NM_206933.4(USH2A):c.12297A>G (p.Thr4099=)
|
rs1346542375
|
|
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
|
rs1657997491
|
|
NM_206933.4(USH2A):c.122A>T (p.Glu41Val)
|
|
|
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)
|
rs1657997730
|
|
NM_206933.4(USH2A):c.12300C>G (p.Tyr4100Ter)
|
rs1657997730
|
|
NM_206933.4(USH2A):c.12302A>T (p.Asn4101Ile)
|
|
|
NM_206933.4(USH2A):c.12306C>G (p.Ile4102Met)
|
rs2102667184
|
|
NM_206933.4(USH2A):c.1230G>A (p.Glu410=)
|
rs1571702190
|
|
NM_206933.4(USH2A):c.12313_12319del (p.Asp4105fs)
|
|
|
NM_206933.4(USH2A):c.12318G>C (p.Gly4106=)
|
rs1479950697
|
|
NM_206933.4(USH2A):c.1231G>A (p.Asp411Asn)
|
|
|
NM_206933.4(USH2A):c.12320T>G (p.Phe4107Cys)
|
|
|
NM_206933.4(USH2A):c.12321C>T (p.Phe4107=)
|
|
|
NM_206933.4(USH2A):c.12327G>A (p.Glu4109=)
|
|
|
NM_206933.4(USH2A):c.12328T>A (p.Tyr4110Asn)
|
rs531504195
|
|
NM_206933.4(USH2A):c.12328T>C (p.Tyr4110His)
|
|
|
NM_206933.4(USH2A):c.12330C>T (p.Tyr4110=)
|
rs2102667159
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
NM_206933.4(USH2A):c.12334G>A (p.Gly4112Ser)
|
|
|
NM_206933.4(USH2A):c.12339G>A (p.Leu4113=)
|
|
|
NM_206933.4(USH2A):c.12342T>C (p.Asn4114=)
|
|
|
NM_206933.4(USH2A):c.12345T>C (p.Arg4115=)
|
rs2102667130
|
|
NM_206933.4(USH2A):c.1234T>A (p.Trp412Arg)
|
|
|
NM_206933.4(USH2A):c.12350T>C (p.Phe4117Ser)
|
|
|
NM_206933.4(USH2A):c.12351T>C (p.Phe4117=)
|
|
|
NM_206933.4(USH2A):c.12354C>G (p.Leu4118=)
|
rs2102667111
|
|
NM_206933.4(USH2A):c.12357C>T (p.Phe4119=)
|
|
|
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys)
|
rs757525434
|
|
NM_206933.4(USH2A):c.12378T>G (p.Thr4126=)
|
|
|
NM_206933.4(USH2A):c.12381_12382del (p.Tyr4128fs)
|
rs2102667069
|
|
NM_206933.4(USH2A):c.12383A>G (p.Tyr4128Cys)
|
rs2102667066
|
|
NM_206933.4(USH2A):c.12394C>T (p.Leu4132=)
|
|
|
NM_206933.4(USH2A):c.12394del (p.Leu4132fs)
|
rs1558049084
|
|
NM_206933.4(USH2A):c.12395T>A (p.Leu4132Gln)
|
|
|
NM_206933.4(USH2A):c.123G>A (p.Glu41=)
|
|
|
NM_206933.4(USH2A):c.12401C>T (p.Ala4134Val)
|
|
|
NM_206933.4(USH2A):c.12402C>G (p.Ala4134=)
|
|
|
NM_206933.4(USH2A):c.12403T>G (p.Cys4135Gly)
|
|
|
NM_206933.4(USH2A):c.12408C>T (p.Thr4136=)
|
rs764911220
|
|
NM_206933.4(USH2A):c.12409A>C (p.Arg4137=)
|
|
|
NM_206933.4(USH2A):c.12409A>G (p.Arg4137Gly)
|
|
|
NM_206933.4(USH2A):c.12409del (p.Arg4137fs)
|
rs1657992342
|
|
NM_206933.4(USH2A):c.12415G>A (p.Gly4139Ser)
|
|
|
NM_206933.4(USH2A):c.12416G>T (p.Gly4139Val)
|
rs1366681759
|
|
NM_206933.4(USH2A):c.12417T>C (p.Gly4139=)
|
|
|
NM_206933.4(USH2A):c.12419G>C (p.Cys4140Ser)
|
|
|
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)
|
rs1064797131
|
|
NM_206933.4(USH2A):c.1241A>G (p.Tyr414Cys)
|
rs1571702162
|
|
NM_206933.4(USH2A):c.12420T>C (p.Cys4140=)
|
rs1657991854
|
|
NM_206933.4(USH2A):c.12423A>G (p.Ala4141=)
|
rs2102666979
|
|
NM_206933.4(USH2A):c.1242T>C (p.Tyr414=)
|
|
|
NM_206933.4(USH2A):c.12434C>T (p.Pro4145Leu)
|
|
|
NM_206933.4(USH2A):c.12443T>C (p.Leu4148Pro)
|
rs886042767
|
|
NM_206933.4(USH2A):c.12450A>G (p.Thr4150=)
|
rs2102666930
|
|
NM_206933.4(USH2A):c.12453T>C (p.Asp4151=)
|
rs2102666923
|
|
NM_206933.4(USH2A):c.12462T>G (p.Pro4154=)
|
|
|
NM_206933.4(USH2A):c.12465A>G (p.Pro4155=)
|
rs2102666904
|
|
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr)
|
rs187897763
|
|
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser)
|
rs187897763
|
|
NM_206933.4(USH2A):c.12471T>C (p.Ser4157=)
|
|
|
NM_206933.4(USH2A):c.12472C>T (p.Gln4158Ter)
|
rs2102666887
|
|
NM_206933.4(USH2A):c.12474G>A (p.Gln4158=)
|
rs1657989183
|
|
NM_206933.4(USH2A):c.12479C>T (p.Ala4160Val)
|
|
|
NM_206933.4(USH2A):c.12482C>T (p.Pro4161Leu)
|
|
|
NM_206933.4(USH2A):c.12483T>A (p.Pro4161=)
|
rs2102666869
|
|
NM_206933.4(USH2A):c.12484A>G (p.Thr4162Ala)
|
rs1363933493
|
|
NM_206933.4(USH2A):c.12489C>A (p.Val4163=)
|
|
|
NM_206933.4(USH2A):c.12492C>T (p.His4164=)
|
|
|
NM_206933.4(USH2A):c.12497_13811+148del
|
|
|
NM_206933.4(USH2A):c.12502T>A (p.Ser4168Thr)
|
rs2102666831
|
|
NM_206933.4(USH2A):c.12504C>T (p.Ser4168=)
|
rs2102666828
|
|
NM_206933.4(USH2A):c.12507C>T (p.Thr4169=)
|
|
|
NM_206933.4(USH2A):c.12509G>A (p.Ser4170Asn)
|
|
|
NM_206933.4(USH2A):c.12510T>C (p.Ser4170=)
|
|
|
NM_206933.4(USH2A):c.12510_12516del (p.Ser4170_Val4171insTer)
|
|
|
NM_206933.4(USH2A):c.12519G>C (p.Leu4173=)
|
|
|
NM_206933.4(USH2A):c.1251G>A (p.Arg417=)
|
|
|
NM_206933.4(USH2A):c.12522C>G (p.Ser4174Arg)
|
|
|
NM_206933.4(USH2A):c.12522C>T (p.Ser4174=)
|
rs754560357
|
|
NM_206933.4(USH2A):c.12523_12532del (p.Trp4175fs)
|
rs2102666781
|
|
NM_206933.4(USH2A):c.12525G>A (p.Trp4175Ter)
|
rs1657987278
|
|
NM_206933.4(USH2A):c.12525G>C (p.Trp4175Cys)
|
rs1657987278
|
|
NM_206933.4(USH2A):c.12525G>T (p.Trp4175Cys)
|
rs1657987278
|
|
NM_206933.4(USH2A):c.1252A>T (p.Asn418Tyr)
|
rs2102654132
|
|
NM_206933.4(USH2A):c.12531G>A (p.Glu4177=)
|
rs1266743108
|
|
NM_206933.4(USH2A):c.12540C>T (p.Asn4180=)
|
|
|
NM_206933.4(USH2A):c.12546T>C (p.Asn4182=)
|
rs1657986831
|
|
NM_206933.4(USH2A):c.12546T>G (p.Asn4182Lys)
|
rs1657986831
|
|
NM_206933.4(USH2A):c.1254T>C (p.Asn418=)
|
rs2037680772
|
|
NM_206933.4(USH2A):c.12554T>A (p.Ile4185Lys)
|
|
|
NM_206933.4(USH2A):c.1255T>C (p.Cys419Arg)
|
|
|
NM_206933.4(USH2A):c.12560G>C (p.Arg4187Pro)
|
|
|
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)
|
rs147304271
|
|
NM_206933.4(USH2A):c.12569T>C (p.Val4190Ala)
|
rs979037444
|
|
NM_206933.4(USH2A):c.12570G>T (p.Val4190=)
|
|
|
NM_206933.4(USH2A):c.12575G>T (p.Arg4192Leu)
|
rs199605265
|
|
NM_206933.4(USH2A):c.12578G>C (p.Arg4193Thr)
|
rs1657985421
|
|
NM_206933.4(USH2A):c.12582C>T (p.Cys4194=)
|
rs1571949553
|
|
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys)
|
rs770065010
|
|
NM_206933.4(USH2A):c.12588G>A (p.Glu4196=)
|
rs1571949543
|
|
NM_206933.4(USH2A):c.1258G>A (p.Gly420Ser)
|
rs2037680211
|
|
NM_206933.4(USH2A):c.12590G>A (p.Gly4197Glu)
|
|
|
NM_206933.4(USH2A):c.12591A>T (p.Gly4197=)
|
rs2102666687
|
|
NM_206933.4(USH2A):c.12594A>G (p.Lys4198=)
|
|
|
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
|
|
|
NM_206933.4(USH2A):c.1260T>C (p.Gly420=)
|
|
|
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
|
|
|
NM_206933.4(USH2A):c.12614T>C (p.Ile4205Thr)
|
|
|
NM_206933.4(USH2A):c.12618G>A (p.Gln4206=)
|
|
|
NM_206933.4(USH2A):c.12621C>G (p.Ala4207=)
|
rs369544099
|
|
NM_206933.4(USH2A):c.12622G>A (p.Asp4208Asn)
|
|
|
NM_206933.4(USH2A):c.12624C>A (p.Asp4208Glu)
|
rs375223901
|
|
NM_206933.4(USH2A):c.12624C>G (p.Asp4208Glu)
|
|
|
NM_206933.4(USH2A):c.12634G>T (p.Val4212Phe)
|
rs2102666612
|
|
NM_206933.4(USH2A):c.12641del (p.Thr4214fs)
|
|
|
NM_206933.4(USH2A):c.12653C>T (p.Thr4218Ile)
|
rs2102666585
|
|
NM_206933.4(USH2A):c.12654T>C (p.Thr4218=)
|
|
|
NM_206933.4(USH2A):c.12654T>G (p.Thr4218=)
|
|
|
NM_206933.4(USH2A):c.12656A>C (p.Glu4219Ala)
|
|
|
NM_206933.4(USH2A):c.12663T>C (p.Asn4221=)
|
rs2102666556
|
|
NM_206933.4(USH2A):c.12674A>G (p.Tyr4225Cys)
|
|
|
NM_206933.4(USH2A):c.12675T>C (p.Tyr4225=)
|
rs2102666532
|
|
NM_206933.4(USH2A):c.12679G>A (p.Asp4227Asn)
|
|
|
NM_206933.4(USH2A):c.12681C>T (p.Asp4227=)
|
rs1190002355
|
|
NM_206933.4(USH2A):c.12683C>T (p.Thr4228Ile)
|
|
|
NM_206933.4(USH2A):c.12685G>A (p.Gly4229Ser)
|
|
|
NM_206933.4(USH2A):c.1268G>A (p.Gly423Glu)
|
|
|
NM_206933.4(USH2A):c.12690G>A (p.Leu4230=)
|
|
|
NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter)
|
rs1057517844
|
|
NM_206933.4(USH2A):c.12693A>G (p.Gln4231=)
|
|
|
NM_206933.4(USH2A):c.12695C>T (p.Pro4232Leu)
|
|
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
|
NM_206933.4(USH2A):c.1269A>G (p.Gly423=)
|
|
|
NM_206933.4(USH2A):c.12701C>G (p.Thr4234Arg)
|
rs564240175
|
|
NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)
|
rs1657976232
|
|
NM_206933.4(USH2A):c.12705G>A (p.Gln4235=)
|
|
|
NM_206933.4(USH2A):c.12706T>A (p.Cys4236Ser)
|
rs2102666455
|
|
NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter)
|
|
|
NM_206933.4(USH2A):c.12708T>C (p.Cys4236=)
|
|
|
NM_206933.4(USH2A):c.12711A>G (p.Glu4237=)
|
rs1657976025
|
|
NM_206933.4(USH2A):c.12713A>G (p.Tyr4238Cys)
|
|
|
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)
|
rs397517981
|
|
NM_206933.4(USH2A):c.12722A>G (p.Tyr4241Cys)
|
|
|
NM_206933.4(USH2A):c.12725C>T (p.Thr4242Ile)
|
rs1416457172
|
|
NM_206933.4(USH2A):c.12726T>C (p.Thr4242=)
|
|
|
NM_206933.4(USH2A):c.12728G>A (p.Trp4243Ter)
|
rs2102666433
|
|
NM_206933.4(USH2A):c.12737C>A (p.Ala4246Asp)
|
|
|
NM_206933.4(USH2A):c.12741G>T (p.Gly4247=)
|
rs766887770
|
|
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)
|
rs145830318
|
|
NM_206933.4(USH2A):c.12743A>T (p.His4248Leu)
|
rs145830318
|
|
NM_206933.4(USH2A):c.12743_12747del (p.His4248fs)
|
|
|
NM_206933.4(USH2A):c.12753C>T (p.Ser4251=)
|
|
|
NM_206933.4(USH2A):c.12756T>C (p.Ser4252=)
|
rs1657974245
|
|
NM_206933.4(USH2A):c.12759G>A (p.Trp4253Ter)
|
rs1657973895
|
|
NM_206933.4(USH2A):c.12759_12768del (p.Ser4252_Trp4253insTer)
|
|
|
NM_206933.4(USH2A):c.12761A>T (p.Asn4254Ile)
|
|
|
NM_206933.4(USH2A):c.12763G>A (p.Val4255Met)
|
rs1177374928
|
|
NM_206933.4(USH2A):c.12765_12766delinsCT (p.Val4256Leu)
|
rs2102666364
|
|
NM_206933.4(USH2A):c.12771G>A (p.Arg4257=)
|
rs1195050308
|
|
NM_206933.4(USH2A):c.12774A>C (p.Thr4258=)
|
|
|
NM_206933.4(USH2A):c.12774A>G (p.Thr4258=)
|
rs773761268
|
|
NM_206933.4(USH2A):c.1277A>G (p.Asn426Ser)
|
|
|
NM_206933.4(USH2A):c.12781G>A (p.Ala4261Thr)
|
|
|
NM_206933.4(USH2A):c.12791A>G (p.Glu4264Gly)
|
|
|
NM_206933.4(USH2A):c.12792A>G (p.Glu4264=)
|
|
|
NM_206933.4(USH2A):c.12794G>T (p.Gly4265Val)
|
rs769342088
|
|
NM_206933.4(USH2A):c.12794del (p.Gly4265fs)
|
rs1571949264
|
|
NM_206933.4(USH2A):c.12798C>G (p.Leu4266=)
|
|
|
NM_206933.4(USH2A):c.12801_12802dup (p.Pro4268fs)
|
rs2102666300
|
|
NM_206933.4(USH2A):c.12806C>A (p.Pro4269His)
|
|
|
NM_206933.4(USH2A):c.12806C>T (p.Pro4269Leu)
|
rs1553252475
|
|
NM_206933.4(USH2A):c.12816C>G (p.Ser4272=)
|
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12825T>C (p.Ser4275=)
|
rs2102666255
|
|
NM_206933.4(USH2A):c.12834C>T (p.Pro4278=)
|
|
|
NM_206933.4(USH2A):c.12841C>T (p.Leu4281=)
|
rs2102666237
|
|
NM_206933.4(USH2A):c.12843G>A (p.Leu4281=)
|
|
|
NM_206933.4(USH2A):c.12844C>T (p.Leu4282=)
|
rs754726474
|
|
NM_206933.4(USH2A):c.12846G>A (p.Leu4282=)
|
|
|
NM_206933.4(USH2A):c.12846G>C (p.Leu4282=)
|
rs1230144564
|
|
NM_206933.4(USH2A):c.12848T>G (p.Ile4283Ser)
|
rs754131049
|
|
NM_206933.4(USH2A):c.12851C>T (p.Ser4284Phe)
|
|
|
NM_206933.4(USH2A):c.12854G>A (p.Trp4285Ter)
|
rs766491471
|
|
NM_206933.4(USH2A):c.12854G>T (p.Trp4285Leu)
|
|
|
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs)
|
rs1553252469
|
|
NM_206933.4(USH2A):c.12863C>T (p.Pro4288Leu)
|
|
|
NM_206933.4(USH2A):c.12867A>G (p.Glu4289=)
|
rs1431939411
|
|
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)
|
rs397517983
|
|
NM_206933.4(USH2A):c.12872C>G (p.Ser4291Cys)
|
|
|
NM_206933.4(USH2A):c.12873T>G (p.Ser4291=)
|
|
|
NM_206933.4(USH2A):c.12875A>C (p.Asn4292Thr)
|
|
|
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser)
|
rs727505117
|
|
NM_206933.4(USH2A):c.12879T>C (p.Gly4293=)
|
rs1657963665
|
|
NM_206933.4(USH2A):c.12884T>A (p.Ile4295Asn)
|
|
|
NM_206933.4(USH2A):c.12886C>T (p.Gln4296Ter)
|
rs2102666136
|
|
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro)
|
rs1553252463
|
|
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn)
|
rs1064797130
|
|
NM_206933.4(USH2A):c.12899T>C (p.Leu4300Pro)
|
|
|
NM_206933.4(USH2A):c.12904A>G (p.Arg4302Gly)
|
|
|
NM_206933.4(USH2A):c.12910G>A (p.Glu4304Lys)
|
rs1657961774
|
|
NM_206933.4(USH2A):c.12914T>C (p.Met4305Thr)
|
rs763192052
|
|
NM_206933.4(USH2A):c.12929G>T (p.Ser4310Ile)
|
|
|
NM_206933.4(USH2A):c.12932T>C (p.Phe4311Ser)
|
rs1657960260
|
|
NM_206933.4(USH2A):c.12933T>C (p.Phe4311=)
|
|
|
NM_206933.4(USH2A):c.12936T>C (p.Asp4312=)
|
rs748165280
|
|
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
|
|
|
NM_206933.4(USH2A):c.12944C>T (p.Thr4315Ile)
|
|
|
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022
|
|
NM_206933.4(USH2A):c.12955A>C (p.Thr4319Pro)
|
|
|
NM_206933.4(USH2A):c.12957T>A (p.Thr4319=)
|
|
|
NM_206933.4(USH2A):c.12958G>A (p.Asp4320Asn)
|
rs140202956
|
|
NM_206933.4(USH2A):c.12969T>G (p.Leu4323=)
|
|
|
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala)
|
rs1657955894
|
|
NM_206933.4(USH2A):c.12974C>G (p.Pro4325Arg)
|
rs925327591
|
|
NM_206933.4(USH2A):c.12974C>T (p.Pro4325Leu)
|
rs925327591
|
|
NM_206933.4(USH2A):c.12976T>C (p.Phe4326Leu)
|
|
|
NM_206933.4(USH2A):c.12978T>C (p.Phe4326=)
|
|
|
NM_206933.4(USH2A):c.12979del (p.Ser4327fs)
|
rs1657955465
|
|
NM_206933.4(USH2A):c.12981C>T (p.Ser4327=)
|
rs2102665998
|
|
NM_206933.4(USH2A):c.12987T>G (p.Tyr4329Ter)
|
rs1203365063
|
|
NM_206933.4(USH2A):c.1298C>A (p.Pro433His)
|
|
|
NM_206933.4(USH2A):c.12993T>C (p.Tyr4331=)
|
|
|
NM_206933.4(USH2A):c.1299T>C (p.Pro433=)
|
rs1571702060
|
|
NM_206933.4(USH2A):c.129G>C (p.Val43=)
|
rs2039690260
|
|
NM_206933.4(USH2A):c.13000C>T (p.Gln4334Ter)
|
rs367850936
|
|
NM_206933.4(USH2A):c.13004C>A (p.Ala4335Asp)
|
rs771748964
|
|
NM_206933.4(USH2A):c.13006T>C (p.Cys4336Arg)
|
|
|
NM_206933.4(USH2A):c.13010C>A (p.Thr4337Lys)
|
|
|
NM_206933.4(USH2A):c.13010C>G (p.Thr4337Arg)
|
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13011G>T (p.Thr4337=)
|
rs768134583
|
|
NM_206933.4(USH2A):c.13015G>C (p.Gly4339Arg)
|
|
|
NM_206933.4(USH2A):c.13016del (p.Gly4339fs)
|
rs2102665932
|
|
NM_206933.4(USH2A):c.13018G>A (p.Gly4340Arg)
|
|
|
NM_206933.4(USH2A):c.13019G>A (p.Gly4340Glu)
|
|
|
NM_206933.4(USH2A):c.13019G>C (p.Gly4340Ala)
|
|
|
NM_206933.4(USH2A):c.13019G>T (p.Gly4340Val)
|
rs1419157426
|
|
NM_206933.4(USH2A):c.13020A>G (p.Gly4340=)
|
rs1399902968
|
|
NM_206933.4(USH2A):c.13020A>T (p.Gly4340=)
|
rs1399902968
|
|
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe)
|
rs397517985
|
|
NM_206933.4(USH2A):c.13025C>T (p.Ser4342Phe)
|
|
|
NM_206933.4(USH2A):c.13034_13045del (p.Lys4345_Ser4348del)
|
|
|
NM_206933.4(USH2A):c.13038C>T (p.Pro4346=)
|
|
|
NM_206933.4(USH2A):c.13040_13062delinsTCAGAAGTCA (p.Thr4347fs)
|
rs1657950450
|
|
NM_206933.4(USH2A):c.13050A>C (p.Thr4350=)
|
|
|
NM_206933.4(USH2A):c.13052C>T (p.Thr4351Ile)
|
|
|
NM_206933.4(USH2A):c.1305T>G (p.Ser435=)
|
|
|
NM_206933.4(USH2A):c.13062T>C (p.Ala4354=)
|
rs2102665860
|
|
NM_206933.4(USH2A):c.13070C>G (p.Ser4357Ter)
|
|
|
NM_206933.4(USH2A):c.13071A>C (p.Ser4357=)
|
rs568141672
|
|
NM_206933.4(USH2A):c.13071A>G (p.Ser4357=)
|
|
|
NM_206933.4(USH2A):c.13077C>T (p.Val4359=)
|
rs2102665844
|
|
NM_206933.4(USH2A):c.13078A>G (p.Ser4360Gly)
|
rs794727825
|
|
NM_206933.4(USH2A):c.13079G>A (p.Ser4360Asn)
|
rs1657949687
|
|
NM_206933.4(USH2A):c.13080C>T (p.Ser4360=)
|
rs1354093518
|
|
NM_206933.4(USH2A):c.13083T>C (p.Pro4361=)
|
|
|
NM_206933.4(USH2A):c.13092T>C (p.Leu4364=)
|
|
|
NM_206933.4(USH2A):c.13102A>C (p.Ser4368Arg)
|
|
|
NM_206933.4(USH2A):c.13110T>A (p.Thr4370=)
|
|
|
NM_206933.4(USH2A):c.13111C>G (p.Gln4371Glu)
|
rs2102665798
|
|
NM_206933.4(USH2A):c.13119T>C (p.Asn4373=)
|
rs371158288
|
|
NM_206933.4(USH2A):c.13121T>A (p.Val4374Glu)
|
|
|
NM_206933.4(USH2A):c.13123T>C (p.Cys4375Arg)
|
rs1558048384
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
NM_206933.4(USH2A):c.13128G>A (p.Trp4376Ter)
|
rs1349682845
|
|
NM_206933.4(USH2A):c.1312T>A (p.Cys438Ser)
|
rs2102654032
|
|
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305
|
|
NM_206933.4(USH2A):c.13131del (p.Pro4378fs)
|
rs2102665766
|
|
NM_206933.4(USH2A):c.13133C>A (p.Pro4378Gln)
|
|
|
NM_206933.4(USH2A):c.13134G>A (p.Pro4378=)
|
rs148975669
|
|
NM_206933.4(USH2A):c.13137C>T (p.Pro4379=)
|
|
|
NM_206933.4(USH2A):c.13137del (p.Thr4380fs)
|
|
|
NM_206933.4(USH2A):c.13140A>C (p.Thr4380=)
|
rs758501903
|
|
NM_206933.4(USH2A):c.13140A>G (p.Thr4380=)
|
rs758501903
|
|
NM_206933.4(USH2A):c.13155G>A (p.Lys4385=)
|
|
|
NM_206933.4(USH2A):c.13158T>C (p.Ile4386=)
|
|
|
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His)
|
rs2102665721
|
|
NM_206933.4(USH2A):c.13167T>C (p.Tyr4389=)
|
rs1355183972
|
|
NM_206933.4(USH2A):c.13176A>G (p.Arg4392=)
|
rs1267100835
|
|
NM_206933.4(USH2A):c.13184A>C (p.Asn4395Thr)
|
|
|
NM_206933.4(USH2A):c.13185T>A (p.Asn4395Lys)
|
|
|
NM_206933.4(USH2A):c.13187_13188del (p.Lys4396fs)
|
|
|
NM_206933.4(USH2A):c.13193C>G (p.Ser4398Cys)
|
rs144200261
|
|
NM_206933.4(USH2A):c.13193C>T (p.Ser4398Phe)
|
rs144200261
|
|
NM_206933.4(USH2A):c.13194C>T (p.Ser4398=)
|
|
|
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser)
|
rs541022183
|
|
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu)
|
rs2039690182
|
|
NM_206933.4(USH2A):c.13202G>A (p.Gly4401Asp)
|
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13210del (p.Leu4404fs)
|
rs1190020491
|
|
NM_206933.4(USH2A):c.13212G>C (p.Leu4404=)
|
rs2102665644
|
|
NM_206933.4(USH2A):c.13215C>A (p.Cys4405Ter)
|
rs370176892
|
|
NM_206933.4(USH2A):c.13215C>T (p.Cys4405=)
|
rs370176892
|
|
NM_206933.4(USH2A):c.13218G>A (p.Leu4406=)
|
|
|
NM_206933.4(USH2A):c.13218G>C (p.Leu4406=)
|
|
|
NM_206933.4(USH2A):c.13221G>T (p.Leu4407=)
|
rs771196547
|
|
NM_206933.4(USH2A):c.13222G>A (p.Val4408Ile)
|
rs111033500
|
|
NM_206933.4(USH2A):c.13222G>T (p.Val4408Phe)
|
rs111033500
|
|
NM_206933.4(USH2A):c.13224T>G (p.Val4408=)
|
|
|
NM_206933.4(USH2A):c.13228C>T (p.His4410Tyr)
|
|
|
NM_206933.4(USH2A):c.13232T>C (p.Leu4411Pro)
|
rs2102665605
|
|
NM_206933.4(USH2A):c.13240T>C (p.Tyr4414His)
|
rs1657941106
|
|
NM_206933.4(USH2A):c.13248G>A (p.Gln4416=)
|
|
|
NM_206933.4(USH2A):c.13256del (p.Phe4419fs)
|
|
|
NM_206933.4(USH2A):c.13263T>C (p.Leu4421=)
|
|
|
NM_206933.4(USH2A):c.13266A>G (p.Val4422=)
|
rs748210778
|
|
NM_206933.4(USH2A):c.13267G>A (p.Ala4423Thr)
|
|
|
NM_206933.4(USH2A):c.13268C>T (p.Ala4423Val)
|
rs755480221
|
|
NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter)
|
rs1657939866
|
|
NM_206933.4(USH2A):c.13274C>A (p.Thr4425Lys)
|
rs201238640
|
|
NM_206933.4(USH2A):c.13274C>G (p.Thr4425Arg)
|
rs201238640
|
|
NM_206933.4(USH2A):c.13275G>A (p.Thr4425=)
|
rs377063327
|
|
NM_206933.4(USH2A):c.1328+17A>G
|
|
|
NM_206933.4(USH2A):c.1328+18C>A
|
|
|
NM_206933.4(USH2A):c.1328+1G>C
|
|
|
NM_206933.4(USH2A):c.1328+37_1328+40del
|
rs145313346
|
|
NM_206933.4(USH2A):c.1328+7A>G
|
|
|
NM_206933.4(USH2A):c.1328+7A>T
|
|
|
NM_206933.4(USH2A):c.1328+8T>C
|
rs2102653997
|
|
NM_206933.4(USH2A):c.13286_13302del (p.Gly4428_Cys4429insTer)
|
rs2102665496
|
|
NM_206933.4(USH2A):c.1329-12T>G
|
rs2102653411
|
|
NM_206933.4(USH2A):c.1329-14T>A
|
|
|
NM_206933.4(USH2A):c.1329-19G>A
|
|
|
NM_206933.4(USH2A):c.1329-19G>T
|
|
|
NM_206933.4(USH2A):c.1329-20C>T
|
rs752671227
|
|
NM_206933.4(USH2A):c.1329-8A>C
|
rs1477914800
|
|
NM_206933.4(USH2A):c.1329-8A>G
|
|
|
NM_206933.4(USH2A):c.1329-9C>T
|
|
|
NM_206933.4(USH2A):c.13296T>G (p.Ser4432Arg)
|
rs2102665525
|
|
NM_206933.4(USH2A):c.13296del (p.Ser4432fs)
|
rs2102665526
|
|
NM_206933.4(USH2A):c.13299G>T (p.Val4433=)
|
rs2102665501
|
|
NM_206933.4(USH2A):c.13302A>G (p.Ser4434=)
|
rs2102665493
|
|
NM_206933.4(USH2A):c.13307C>G (p.Ser4436Cys)
|
rs751208743
|
|
NM_206933.4(USH2A):c.13311C>T (p.Ala4437=)
|
|
|
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)
|
rs111033417
|
|
NM_206933.4(USH2A):c.13317A>G (p.Thr4439=)
|
|
|
NM_206933.4(USH2A):c.13321G>C (p.Glu4441Gln)
|
rs2102665456
|
|
NM_206933.4(USH2A):c.13324G>C (p.Ala4442Pro)
|
|
|
NM_206933.4(USH2A):c.13332A>G (p.Pro4444=)
|
|
|
NM_206933.4(USH2A):c.13335G>A (p.Glu4445=)
|
rs2102665441
|
|
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
|
rs775556188
|
|
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del)
|
rs111033408
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13337A>C (p.Asn4446Thr)
|
|
|
NM_206933.4(USH2A):c.13337del (p.Asn4446fs)
|
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13340T>C (p.Met4447Thr)
|
|
|
NM_206933.4(USH2A):c.13346C>T (p.Ser4449Phe)
|
|
|
NM_206933.4(USH2A):c.13347T>C (p.Ser4449=)
|
rs1478968231
|
|
NM_206933.4(USH2A):c.13347T>G (p.Ser4449=)
|
|
|
NM_206933.4(USH2A):c.13349C>T (p.Pro4450Leu)
|
rs2102665385
|
|
NM_206933.4(USH2A):c.1334C>G (p.Thr445Ser)
|
|
|
NM_206933.4(USH2A):c.1334C>T (p.Thr445Ile)
|
|
|
NM_206933.4(USH2A):c.13351A>G (p.Thr4451Ala)
|
rs1401165417
|
|
NM_206933.4(USH2A):c.13353A>G (p.Thr4451=)
|
|
|
NM_206933.4(USH2A):c.13355T>C (p.Leu4452Ser)
|
|
|
NM_206933.4(USH2A):c.1335T>C (p.Thr445=)
|
|
|
NM_206933.4(USH2A):c.13360G>A (p.Val4454Ile)
|
|
|
NM_206933.4(USH2A):c.13362C>T (p.Val4454=)
|
rs2102665375
|
|
NM_206933.4(USH2A):c.13365A>G (p.Thr4455=)
|
|
|
NM_206933.4(USH2A):c.13365dup (p.Gly4456fs)
|
|
|
NM_206933.4(USH2A):c.13368C>T (p.Gly4456=)
|
|
|
NM_206933.4(USH2A):c.1336C>T (p.Pro446Ser)
|
|
|
NM_206933.4(USH2A):c.13370C>G (p.Ser4457Ter)
|
rs2102665356
|
|
NM_206933.4(USH2A):c.13371A>G (p.Ser4457=)
|
rs1657934116
|
|
NM_206933.4(USH2A):c.13372_13387del (p.Glu4458fs)
|
rs2102665328
|
|
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)
|
rs727503715
|
|
NM_206933.4(USH2A):c.13389C>G (p.Thr4463=)
|
|
|
NM_206933.4(USH2A):c.13389C>T (p.Thr4463=)
|
rs758000628
|
|
NM_206933.4(USH2A):c.1338A>G (p.Pro446=)
|
rs368392889
|
|
NM_206933.4(USH2A):c.1338A>T (p.Pro446=)
|
|
|
NM_206933.4(USH2A):c.13390T>C (p.Trp4464Arg)
|
rs1403832675
|
|
NM_206933.4(USH2A):c.13391G>A (p.Trp4464Ter)
|
|
|
NM_206933.4(USH2A):c.13392G>T (p.Trp4464Cys)
|
|
|
NM_206933.4(USH2A):c.13393A>T (p.Lys4465Ter)
|
rs2102665314
|
|
NM_206933.4(USH2A):c.13407C>A (p.Asn4469Lys)
|
rs1657932622
|
|
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
|
rs1657932443
|
|
NM_206933.4(USH2A):c.13417C>T (p.Gln4473Ter)
|
rs2102665279
|
|
NM_206933.4(USH2A):c.13419G>A (p.Gln4473=)
|
rs2102665275
|
|
NM_206933.4(USH2A):c.13419_13420del (p.Gln4473fs)
|
rs2102665272
|
|
NM_206933.4(USH2A):c.1341T>C (p.Tyr447=)
|
|
|
NM_206933.4(USH2A):c.13422C>T (p.Ile4474=)
|
rs1453273341
|
|
NM_206933.4(USH2A):c.13423A>C (p.Arg4475=)
|
|
|
NM_206933.4(USH2A):c.13424G>T (p.Arg4475Ile)
|
rs766291467
|
|
NM_206933.4(USH2A):c.13430A>T (p.Tyr4477Phe)
|
|
|
NM_206933.4(USH2A):c.13431T>C (p.Tyr4477=)
|
|
|
NM_206933.4(USH2A):c.13436T>C (p.Leu4479Pro)
|
|
|
NM_206933.4(USH2A):c.13436T>G (p.Leu4479Arg)
|
|
|
NM_206933.4(USH2A):c.13437T>C (p.Leu4479=)
|
rs772994021
|
|
NM_206933.4(USH2A):c.13443G>A (p.Arg4481=)
|
|
|
NM_206933.4(USH2A):c.13444G>A (p.Asp4482Asn)
|
rs1657930957
|
|
NM_206933.4(USH2A):c.1345C>T (p.Arg449Cys)
|
|
|
NM_206933.4(USH2A):c.13464A>G (p.Thr4488=)
|
|
|
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
|
rs1293619630
|
|
NM_206933.4(USH2A):c.13467C>A (p.Gly4489=)
|
rs2102665180
|
|
NM_206933.4(USH2A):c.13473A>G (p.Glu4491=)
|
|
|
NM_206933.4(USH2A):c.13474_13481del (p.Thr4492fs)
|
|
|
NM_206933.4(USH2A):c.13476A>G (p.Thr4492=)
|
|
|
NM_206933.4(USH2A):c.1347T>C (p.Arg449=)
|
|
|
NM_206933.4(USH2A):c.13481A>G (p.Tyr4494Cys)
|
rs1322092837
|
|
NM_206933.4(USH2A):c.13483C>G (p.Arg4495Gly)
|
|
|
NM_206933.4(USH2A):c.13491T>C (p.Phe4497=)
|
rs2102665123
|
|
NM_206933.4(USH2A):c.13491_13499dup (p.Thr4498_Thr4500dup)
|
rs1349222819
|
|
NM_206933.4(USH2A):c.13495C>G (p.Leu4499Val)
|
|
|
NM_206933.4(USH2A):c.13497C>T (p.Leu4499=)
|
rs1657928086
|
|
NM_206933.4(USH2A):c.13500C>A (p.Thr4500=)
|
rs1657927837
|
|
NM_206933.4(USH2A):c.13500C>T (p.Thr4500=)
|
|
|
NM_206933.4(USH2A):c.13502C>G (p.Pro4501Arg)
|
|
|
NM_206933.4(USH2A):c.13503A>G (p.Pro4501=)
|
rs1571948243
|
|
NM_206933.4(USH2A):c.13506T>C (p.Gly4502=)
|
|
|
NM_206933.4(USH2A):c.13507G>A (p.Val4503Met)
|
rs375419632
|
|
NM_206933.4(USH2A):c.1350C>A (p.Gly450=)
|
rs2102653371
|
|
NM_206933.4(USH2A):c.13511A>C (p.Glu4504Ala)
|
|
|
NM_206933.4(USH2A):c.13512G>A (p.Glu4504=)
|
rs1657927069
|
|
NM_206933.4(USH2A):c.13519T>C (p.Tyr4507His)
|
|
|
NM_206933.4(USH2A):c.13521C>T (p.Tyr4507=)
|
rs1488571549
|
|
NM_206933.4(USH2A):c.13524del (p.Thr4508_Val4509insTer)
|
|
|
NM_206933.4(USH2A):c.13524dup (p.Val4509fs)
|
|
|
NM_206933.4(USH2A):c.13530T>G (p.Thr4510=)
|
rs150654038
|
|
NM_206933.4(USH2A):c.13531G>A (p.Ala4511Thr)
|
|
|
NM_206933.4(USH2A):c.13534A>G (p.Ser4512Gly)
|
rs1323696539
|
|
NM_206933.4(USH2A):c.13536C>A (p.Ser4512Arg)
|
|
|
NM_206933.4(USH2A):c.13537A>G (p.Asn4513Asp)
|
|
|
NM_206933.4(USH2A):c.1353T>C (p.Asn451=)
|
rs1169170024
|
|
NM_206933.4(USH2A):c.13546G>T (p.Gly4516Trp)
|
|
|
NM_206933.4(USH2A):c.13547G>A (p.Gly4516Glu)
|
|
|
NM_206933.4(USH2A):c.13548G>A (p.Gly4516=)
|
|
|
NM_206933.4(USH2A):c.13549G>A (p.Gly4517Ser)
|
rs763154327
|
|
NM_206933.4(USH2A):c.13550del (p.Gly4517fs)
|
|
|
NM_206933.4(USH2A):c.13553T>C (p.Ile4518Thr)
|
|
|
NM_206933.4(USH2A):c.1355T>A (p.Val452Asp)
|
rs1393756456
|
|
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
NM_206933.4(USH2A):c.13569C>G (p.Val4523=)
|
|
|
NM_206933.4(USH2A):c.1356C>T (p.Val452=)
|
|
|
NM_206933.4(USH2A):c.13572A>C (p.Lys4524Asn)
|
|
|
NM_206933.4(USH2A):c.13576C>A (p.Arg4526=)
|
rs1003869920
|
|
NM_206933.4(USH2A):c.13584C>T (p.Ser4528=)
|
rs1657922355
|
|
NM_206933.4(USH2A):c.13586C>G (p.Pro4529Arg)
|
rs754560573
|
|
NM_206933.4(USH2A):c.13586C>T (p.Pro4529Leu)
|
rs754560573
|
|
NM_206933.4(USH2A):c.13587del (p.Ser4530fs)
|
rs1571948114
|
|
NM_206933.4(USH2A):c.13587dup (p.Ser4530fs)
|
|
|
NM_206933.4(USH2A):c.13589C>T (p.Ser4530Leu)
|
|
|
NM_206933.4(USH2A):c.1358C>T (p.Thr453Ile)
|
rs2102653345
|
|
NM_206933.4(USH2A):c.13590A>G (p.Ser4530=)
|
rs1343900269
|
|
NM_206933.4(USH2A):c.13590dup (p.Ala4531fs)
|
rs2102664921
|
|
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)
|
rs1485393201
|
|
NM_206933.4(USH2A):c.13596C>T (p.Pro4532=)
|
|
|
NM_206933.4(USH2A):c.13596dup (p.Ser4533fs)
|
|
|
NM_206933.4(USH2A):c.13598C>G (p.Ser4533Ter)
|
rs1657921221
|
|
NM_206933.4(USH2A):c.13599A>C (p.Ser4533=)
|
|
|
NM_206933.4(USH2A):c.13599A>G (p.Ser4533=)
|
|
|
NM_206933.4(USH2A):c.13599del (p.Met4535fs)
|
rs2102664886
|
|
NM_206933.4(USH2A):c.135T>C (p.Ala45=)
|
|
|
NM_206933.4(USH2A):c.13611T>C (p.Pro4537=)
|
rs2102664863
|
|
NM_206933.4(USH2A):c.13614A>G (p.Pro4538=)
|
rs757136819
|
|
NM_206933.4(USH2A):c.13617A>G (p.Lys4539=)
|
rs2102664850
|
|
NM_206933.4(USH2A):c.13623G>A (p.Gln4541=)
|
|
|
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly)
|
rs775560370
|
|
NM_206933.4(USH2A):c.13626C>T (p.Ala4542=)
|
rs1390052703
|
|
NM_206933.4(USH2A):c.13629G>A (p.Arg4543=)
|
rs1189794947
|
|
NM_206933.4(USH2A):c.13633C>T (p.Pro4545Ser)
|
rs2102664812
|
|
NM_206933.4(USH2A):c.13634del (p.Pro4545fs)
|
rs2102664808
|
|
NM_206933.4(USH2A):c.13639del (p.Glu4547fs)
|
|
|
NM_206933.4(USH2A):c.13641G>A (p.Glu4547=)
|
rs2102664797
|
|
NM_206933.4(USH2A):c.13644C>A (p.Ile4548=)
|
rs759502406
|
|
NM_206933.4(USH2A):c.13645T>C (p.Leu4549=)
|
rs2102664793
|
|
NM_206933.4(USH2A):c.13647A>G (p.Leu4549=)
|
rs2102664789
|
|
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)
|
rs553956503
|
|
NM_206933.4(USH2A):c.1364G>A (p.Ser455Asn)
|
|
|
NM_206933.4(USH2A):c.13650G>T (p.Val4550=)
|
rs771387706
|
|
NM_206933.4(USH2A):c.13660C>A (p.Pro4554Thr)
|
|
|
NM_206933.4(USH2A):c.13668G>A (p.Val4556=)
|
|
|
NM_206933.4(USH2A):c.13681G>A (p.Asp4561Asn)
|
|
|
NM_206933.4(USH2A):c.13683T>C (p.Asp4561=)
|
|
|
NM_206933.4(USH2A):c.13685T>C (p.Ile4562Thr)
|
rs2102664718
|
|
NM_206933.4(USH2A):c.13686C>A (p.Ile4562=)
|
rs1370000036
|
|
NM_206933.4(USH2A):c.13695T>G (p.Tyr4565Ter)
|
rs1553252343
|
|
NM_206933.4(USH2A):c.13696A>G (p.Thr4566Ala)
|
|
|
NM_206933.4(USH2A):c.13696_13697insTCA (p.Tyr4565_Thr4566insIle)
|
|
|
NM_206933.4(USH2A):c.13699C>G (p.Leu4567Val)
|
|
|
NM_206933.4(USH2A):c.1369C>T (p.Leu457=)
|
rs769398784
|
|
NM_206933.4(USH2A):c.13700T>G (p.Leu4567Arg)
|
rs1237653705
|
|
NM_206933.4(USH2A):c.13708C>T (p.Arg4570Cys)
|
|
|
NM_206933.4(USH2A):c.13711G>A (p.Glu4571Lys)
|
|
|
NM_206933.4(USH2A):c.13713A>G (p.Glu4571=)
|
|
|
NM_206933.4(USH2A):c.13716A>G (p.Leu4572=)
|
rs1571947893
|
|
NM_206933.4(USH2A):c.1371G>T (p.Leu457=)
|
|
|
NM_206933.4(USH2A):c.13730C>G (p.Thr4577Ser)
|
rs1657915062
|
|
NM_206933.4(USH2A):c.13731_13743del (p.Thr4577_Lys4578insTer)
|
|
|
NM_206933.4(USH2A):c.13732A>C (p.Lys4578Gln)
|
rs765354805
|
|
NM_206933.4(USH2A):c.13732_13796dup (p.Lys4600_Pro4601insSerTyrThrTerLys)
|
rs2102664474
|
|
NM_206933.4(USH2A):c.13737C>A (p.Ile4579=)
|
|
|
NM_206933.4(USH2A):c.13740A>G (p.Ile4580Met)
|
rs1416382135
|
|
NM_206933.4(USH2A):c.13741C>T (p.His4581Tyr)
|
|
|
NM_206933.4(USH2A):c.13743C>T (p.His4581=)
|
rs1657914141
|
|
NM_206933.4(USH2A):c.13751C>T (p.Thr4584Ile)
|
|
|
NM_206933.4(USH2A):c.13752A>G (p.Thr4584=)
|
|
|
NM_206933.4(USH2A):c.13763del (p.Ser4588fs)
|
|
|
NM_206933.4(USH2A):c.13767T>C (p.Phe4589=)
|
rs2102664559
|
|
NM_206933.4(USH2A):c.13769G>A (p.Gly4590Asp)
|
|
|
NM_206933.4(USH2A):c.13770T>C (p.Gly4590=)
|
|
|
NM_206933.4(USH2A):c.13778C>A (p.Ser4593Ter)
|
rs1202573136
|
|
NM_206933.4(USH2A):c.13779A>G (p.Ser4593=)
|
rs770551029
|
|
NM_206933.4(USH2A):c.1377T>A (p.Pro459=)
|
rs1064797140
|
|
NM_206933.4(USH2A):c.13784_13785del (p.Ile4595fs)
|
|
|
NM_206933.4(USH2A):c.13785A>T (p.Ile4595=)
|
rs2102664500
|
|
NM_206933.4(USH2A):c.13788A>G (p.Val4596=)
|
rs2102664493
|
|
NM_206933.4(USH2A):c.13790A>G (p.Asn4597Ser)
|
|
|
NM_206933.4(USH2A):c.13791C>A (p.Asn4597Lys)
|
rs1352188508
|
|
NM_206933.4(USH2A):c.13791C>T (p.Asn4597=)
|
rs1352188508
|
|
NM_206933.4(USH2A):c.13794G>A (p.Gln4598=)
|
rs1571947752
|
|
NM_206933.4(USH2A):c.13797G>A (p.Leu4599=)
|
|
|
NM_206933.4(USH2A):c.137T>A (p.Phe46Tyr)
|
rs2102789019
|
|
NM_206933.4(USH2A):c.13800G>A (p.Lys4600=)
|
rs758262076
|
|
NM_206933.4(USH2A):c.13802del (p.Pro4601fs)
|
|
|
NM_206933.4(USH2A):c.13803A>T (p.Pro4601=)
|
rs929186272
|
|
NM_206933.4(USH2A):c.13805T>C (p.Phe4602Ser)
|
rs574442439
|
|
NM_206933.4(USH2A):c.13806T>C (p.Phe4602=)
|
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13811+15C>G
|
|
|
NM_206933.4(USH2A):c.13811+3A>G
|
rs760716728
|
|
NM_206933.4(USH2A):c.13812-10T>C
|
rs2102661605
|
|
NM_206933.4(USH2A):c.13812-11A>G
|
|
|
NM_206933.4(USH2A):c.13812-13T>A
|
|
|
NM_206933.4(USH2A):c.13812-14C>T
|
|
|
NM_206933.4(USH2A):c.13812-1G>A
|
rs199782530
|
|
NM_206933.4(USH2A):c.13812-1G>T
|
|
|
NM_206933.4(USH2A):c.13812-20T>G
|
|
|
NM_206933.4(USH2A):c.13812-4G>C
|
|
|
NM_206933.4(USH2A):c.13812-5del
|
|
|
NM_206933.4(USH2A):c.13812-7C>G
|
|
|
NM_206933.4(USH2A):c.13812-89dup
|
rs756861779
|
|
NM_206933.4(USH2A):c.13812-8T>C
|
rs1657808845
|
|
NM_206933.4(USH2A):c.13812-8del
|
rs2102661601
|
|
NM_206933.4(USH2A):c.13820T>A (p.Ile4607Lys)
|
rs764431065
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.13823G>C (p.Arg4608Pro)
|
|
|
NM_206933.4(USH2A):c.13825A>G (p.Ile4609Val)
|
|
|
NM_206933.4(USH2A):c.13832C>G (p.Ala4611Gly)
|
rs376077079
|
|
NM_206933.4(USH2A):c.13836C>T (p.Cys4612=)
|
rs772791856
|
|
NM_206933.4(USH2A):c.13838C>T (p.Thr4613Ile)
|
|
|
NM_206933.4(USH2A):c.1383A>G (p.Pro461=)
|
|
|
NM_206933.4(USH2A):c.1383A>T (p.Pro461=)
|
|
|
NM_206933.4(USH2A):c.13842C>A (p.Thr4614=)
|
|
|
NM_206933.4(USH2A):c.13842C>T (p.Thr4614=)
|
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.13848A>G (p.Gly4616=)
|
|
|
NM_206933.4(USH2A):c.1384A>T (p.Asn462Tyr)
|
|
|
NM_206933.4(USH2A):c.13854A>G (p.Ala4618=)
|
|
|
NM_206933.4(USH2A):c.13857A>G (p.Ser4619=)
|
rs373694614
|
|
NM_206933.4(USH2A):c.13858A>G (p.Ser4620Gly)
|
|
|
NM_206933.4(USH2A):c.13859G>A (p.Ser4620Asn)
|
|
|
NM_206933.4(USH2A):c.13865G>A (p.Trp4622Ter)
|
|
|
NM_206933.4(USH2A):c.13866G>A (p.Trp4622Ter)
|
|
|
NM_206933.4(USH2A):c.13869A>G (p.Thr4623=)
|
|
|
NM_206933.4(USH2A):c.13869A>T (p.Thr4623=)
|
rs2102661513
|
|
NM_206933.4(USH2A):c.13872C>T (p.Phe4624=)
|
rs2102661502
|
|
NM_206933.4(USH2A):c.13876C>T (p.Gln4626Ter)
|
rs1657805631
|
|
NM_206933.4(USH2A):c.13877_13880del (p.Gln4626fs)
|
|
|
NM_206933.4(USH2A):c.1387_1416del (p.Tyr463_Asn472del)
|
rs1005235415
|
|
NM_206933.4(USH2A):c.13880C>T (p.Thr4627Ile)
|
|
|
NM_206933.4(USH2A):c.13886_13902del (p.Glu4629fs)
|
rs2102661452
|
|
NM_206933.4(USH2A):c.13891G>A (p.Ala4631Thr)
|
|
|
NM_206933.4(USH2A):c.13894C>G (p.Pro4632Ala)
|
|
|
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
|
|
|
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer)
|
rs1553252052
|
|
NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu)
|
rs150600947
|
|
NM_206933.4(USH2A):c.13908C>G (p.Pro4636=)
|
rs2102661437
|
|
NM_206933.4(USH2A):c.13909C>T (p.Pro4637Ser)
|
|
|
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)
|
rs1423536179
|
|
NM_206933.4(USH2A):c.13910C>T (p.Pro4637Leu)
|
|
|
NM_206933.4(USH2A):c.13911T>C (p.Pro4637=)
|
rs2102661431
|
|
NM_206933.4(USH2A):c.13911T>G (p.Pro4637=)
|
|
|
NM_206933.4(USH2A):c.1391G>T (p.Arg464Leu)
|
rs771000800
|
|
NM_206933.4(USH2A):c.13925_13926dup (p.Gln4643fs)
|
|
|
NM_206933.4(USH2A):c.13926A>T (p.Val4642=)
|
rs752044003
|
|
NM_206933.4(USH2A):c.1392T>A (p.Arg464=)
|
|
|
NM_206933.4(USH2A):c.13935T>C (p.Ala4645=)
|
rs1571945556
|
|
NM_206933.4(USH2A):c.13936C>A (p.Pro4646Thr)
|
|
|
NM_206933.4(USH2A):c.13940G>A (p.Gly4647Glu)
|
|
|
NM_206933.4(USH2A):c.13956T>G (p.Thr4652=)
|
|
|
NM_206933.4(USH2A):c.13957G>A (p.Val4653Ile)
|
|
|
NM_206933.4(USH2A):c.13957G>C (p.Val4653Leu)
|
|
|
NM_206933.4(USH2A):c.13969T>C (p.Trp4657Arg)
|
|
|
NM_206933.4(USH2A):c.13978C>T (p.Pro4660Ser)
|
|
|
NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln)
|
rs761367363
|
|
NM_206933.4(USH2A):c.13979C>T (p.Pro4660Leu)
|
|
|
NM_206933.4(USH2A):c.13980G>T (p.Pro4660=)
|
rs201127899
|
|
NM_206933.4(USH2A):c.13985del (p.Gln4662fs)
|
rs1553252041
|
|
NM_206933.4(USH2A):c.1398A>G (p.Gly466=)
|
rs2037663417
|
|
NM_206933.4(USH2A):c.13993G>T (p.Gly4665Ter)
|
rs2102661344
|
|
NM_206933.4(USH2A):c.14004G>A (p.Leu4668=)
|
rs2102661331
|
|
NM_206933.4(USH2A):c.14007T>A (p.Tyr4669Ter)
|
rs1657800056
|
|
NM_206933.4(USH2A):c.14018A>G (p.Tyr4673Cys)
|
|
|
NM_206933.4(USH2A):c.1401C>A (p.Tyr467Ter)
|
rs887496752
|
|
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)
|
rs80338904
|
|
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)
|
rs397517987
|
|
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)
|
rs397517988
|
|
NM_206933.4(USH2A):c.14032G>C (p.Ala4678Pro)
|
rs1657799048
|
|
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)
|
rs1657798642
|
|
NM_206933.4(USH2A):c.14040G>A (p.Gln4680=)
|
rs2102661268
|
|
NM_206933.4(USH2A):c.14049del (p.Lys4683fs)
|
|
|
NM_206933.4(USH2A):c.14050T>C (p.Ser4684Pro)
|
rs1463849396
|
|
NM_206933.4(USH2A):c.14053A>G (p.Asn4685Asp)
|
rs1657798161
|
|
NM_206933.4(USH2A):c.14054A>T (p.Asn4685Ile)
|
|
|
NM_206933.4(USH2A):c.14058A>T (p.Pro4686=)
|
|
|
NM_206933.4(USH2A):c.14061C>T (p.Val4687=)
|
rs753243273
|
|
NM_206933.4(USH2A):c.14066T>C (p.Ile4689Thr)
|
rs2102661230
|
|
NM_206933.4(USH2A):c.14079C>T (p.Ser4693=)
|
|
|
NM_206933.4(USH2A):c.1407C>T (p.Asn469=)
|
|
|
NM_206933.4(USH2A):c.14080T>C (p.Ser4694Pro)
|
rs2102661208
|
|
NM_206933.4(USH2A):c.14085A>G (p.Thr4695=)
|
|
|
NM_206933.4(USH2A):c.14087del (p.Ser4696fs)
|
rs2102661201
|
|
NM_206933.4(USH2A):c.14088T>C (p.Ser4696=)
|
rs2102661191
|
|
NM_206933.4(USH2A):c.14091del (p.Phe4697fs)
|
rs2102661189
|
|
NM_206933.4(USH2A):c.14101G>T (p.Glu4701Ter)
|
rs372966682
|
|
NM_206933.4(USH2A):c.14107T>C (p.Leu4703=)
|
|
|
NM_206933.4(USH2A):c.1410C>A (p.Phe470Leu)
|
rs772146621
|
|
NM_206933.4(USH2A):c.14110_14111insA (p.Pro4704fs)
|
rs2102661164
|
|
NM_206933.4(USH2A):c.14124T>C (p.Tyr4708=)
|
|
|
NM_206933.4(USH2A):c.14124T>G (p.Tyr4708Ter)
|
rs2102661156
|
|
NM_206933.4(USH2A):c.14127G>A (p.Glu4709=)
|
rs1041779345
|
|
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)
|
rs1064797129
|
|
NM_206933.4(USH2A):c.14130T>G (p.Tyr4710Ter)
|
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
NM_206933.4(USH2A):c.14133+10G>A
|
rs376302401
|
|
NM_206933.4(USH2A):c.14133+11T>C
|
|
|
NM_206933.4(USH2A):c.14133+13T>C
|
|
|
NM_206933.4(USH2A):c.14133+15T>A
|
|
|
NM_206933.4(USH2A):c.14133+7A>G
|
rs2102661134
|
|
NM_206933.4(USH2A):c.14133+9T>A
|
rs2102661130
|
|
NM_206933.4(USH2A):c.14134-16T>A
|
rs1657048929
|
|
NM_206933.4(USH2A):c.14134-17_14134-15del
|
rs762099495
|
|
NM_206933.4(USH2A):c.14134-20T>C
|
|
|
NM_206933.4(USH2A):c.14134-53del
|
rs371744542
|
|
NM_206933.4(USH2A):c.14134-5T>C
|
rs2102645100
|
|
NM_206933.4(USH2A):c.14134-68_14134-67dup
|
rs371744542
|
|
NM_206933.4(USH2A):c.14134-68dup
|
rs371744542
|
|
NM_206933.4(USH2A):c.14134-82dup
|
rs1225932468
|
|
NM_206933.4(USH2A):c.14134-9T>C
|
rs899521308
|
|
NM_206933.4(USH2A):c.14142A>G (p.Ala4714=)
|
rs1657047921
|
|
NM_206933.4(USH2A):c.14145G>A (p.Val4715=)
|
rs2102645080
|
|
NM_206933.4(USH2A):c.14152G>C (p.Ala4718Pro)
|
rs1038432544
|
|
NM_206933.4(USH2A):c.14152G>T (p.Ala4718Ser)
|
|
|
NM_206933.4(USH2A):c.1415_1494delinsG (p.Asn472fs)
|
|
|
NM_206933.4(USH2A):c.14161del (p.Ala4721fs)
|
|
|
NM_206933.4(USH2A):c.14162C>T (p.Ala4721Val)
|
|
|
NM_206933.4(USH2A):c.14166del (p.Ser4723fs)
|
|
|
NM_206933.4(USH2A):c.1416T>C (p.Asn472=)
|
rs550629147
|
|
NM_206933.4(USH2A):c.1416_1441del (p.Asn472fs)
|
|
|
NM_206933.4(USH2A):c.14172C>T (p.Ser4724=)
|
rs766236237
|
|
NM_206933.4(USH2A):c.14174G>A (p.Trp4725Ter)
|
|
|
NM_206933.4(USH2A):c.14175G>A (p.Trp4725Ter)
|
rs886042722
|
|
NM_206933.4(USH2A):c.14178A>G (p.Thr4726=)
|
|
|
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)
|
rs397517989
|
|
NM_206933.4(USH2A):c.14181G>A (p.Trp4727Ter)
|
rs935176131
|
|
NM_206933.4(USH2A):c.14190C>A (p.Thr4730=)
|
rs199694401
|
|
NM_206933.4(USH2A):c.14191G>T (p.Gly4731Trp)
|
|
|
NM_206933.4(USH2A):c.14195C>T (p.Pro4732Leu)
|
|
|
NM_206933.4(USH2A):c.14199C>G (p.Ala4733=)
|
|
|
NM_206933.4(USH2A):c.14199C>T (p.Ala4733=)
|
|
|
NM_206933.4(USH2A):c.1419C>G (p.Thr473=)
|
|
|
NM_206933.4(USH2A):c.14202A>G (p.Pro4734=)
|
|
|
NM_206933.4(USH2A):c.14203C>T (p.Pro4735Ser)
|
rs1164439183
|
|
NM_206933.4(USH2A):c.14204C>A (p.Pro4735Gln)
|
|
|
NM_206933.4(USH2A):c.14208A>G (p.Glu4736=)
|
|
|
NM_206933.4(USH2A):c.14217A>T (p.Arg4739Ser)
|
rs754413984
|
|
NM_206933.4(USH2A):c.14217del (p.Ala4740fs)
|
|
|
NM_206933.4(USH2A):c.14218G>A (p.Ala4740Thr)
|
|
|
NM_206933.4(USH2A):c.14220C>T (p.Ala4740=)
|
rs766176205
|
|
NM_206933.4(USH2A):c.14221C>T (p.Pro4741Ser)
|
|
|
NM_206933.4(USH2A):c.14222C>T (p.Pro4741Leu)
|
rs1657042446
|
|
NM_206933.4(USH2A):c.14223C>G (p.Pro4741=)
|
|
|
NM_206933.4(USH2A):c.14224A>C (p.Thr4742Pro)
|
|
|
NM_206933.4(USH2A):c.14225C>G (p.Thr4742Arg)
|
rs370157230
|
|
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)
|
rs1657036615
|
|
NM_206933.4(USH2A):c.14229C>T (p.Phe4743=)
|
rs1657041400
|
|
NM_206933.4(USH2A):c.1422A>G (p.Pro474=)
|
rs2102653167
|
|
NM_206933.4(USH2A):c.14231A>C (p.His4744Pro)
|
rs1020335802
|
|
NM_206933.4(USH2A):c.14235G>T (p.Val4745=)
|
|
|
NM_206933.4(USH2A):c.14238C>T (p.Ile4746=)
|
|
|
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)
|
rs727504867
|
|
NM_206933.4(USH2A):c.14249A>G (p.Gln4750Arg)
|
rs762923475
|
|
NM_206933.4(USH2A):c.14254G>C (p.Val4752Leu)
|
|
|
NM_206933.4(USH2A):c.14255T>G (p.Val4752Gly)
|
|
|
NM_206933.4(USH2A):c.14257G>A (p.Val4753Ile)
|
rs2102644873
|
|
NM_206933.4(USH2A):c.14271C>T (p.Ala4757=)
|
|
|
NM_206933.4(USH2A):c.14272C>A (p.Pro4758Thr)
|
rs1159107276
|
|
NM_206933.4(USH2A):c.14272C>T (p.Pro4758Ser)
|
rs1159107276
|
|
NM_206933.4(USH2A):c.14273dup (p.Gly4759fs)
|
rs2102644857
|
|
NM_206933.4(USH2A):c.14274T>C (p.Pro4758=)
|
rs778407716
|
|
NM_206933.4(USH2A):c.14275G>A (p.Gly4759Arg)
|
|
|
NM_206933.4(USH2A):c.14280G>A (p.Lys4760=)
|
|
|
NM_206933.4(USH2A):c.14283C>T (p.Pro4761=)
|
|
|
NM_206933.4(USH2A):c.14283_14304del (p.Asn4762fs)
|
|
|
NM_206933.4(USH2A):c.14286C>A (p.Asn4762Lys)
|
rs750368946
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14287G>C (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)
|
rs781195579
|
|
NM_206933.4(USH2A):c.14288G>T (p.Gly4763Val)
|
|
|
NM_206933.4(USH2A):c.14289G>C (p.Gly4763=)
|
|
|
NM_206933.4(USH2A):c.14289del (p.Ile4764fs)
|
rs2102644832
|
|
NM_206933.4(USH2A):c.1428T>G (p.Leu476=)
|
rs2102653157
|
|
NM_206933.4(USH2A):c.14292C>A (p.Ile4764=)
|
rs751883676
|
|
NM_206933.4(USH2A):c.14293G>A (p.Val4765Ile)
|
|
|
NM_206933.4(USH2A):c.14300T>C (p.Leu4767Pro)
|
rs2102644814
|
|
NM_206933.4(USH2A):c.14302T>C (p.Tyr4768His)
|
rs1657029565
|
|
NM_206933.4(USH2A):c.14302_14305dup (p.Arg4769fs)
|
rs2102644805
|
|
NM_206933.4(USH2A):c.14303A>G (p.Tyr4768Cys)
|
rs1657029417
|
|
NM_206933.4(USH2A):c.14305A>G (p.Arg4769Gly)
|
rs2102644801
|
|
NM_206933.4(USH2A):c.14307G>A (p.Arg4769=)
|
rs2102644798
|
|
NM_206933.4(USH2A):c.14309dup (p.Phe4771fs)
|
rs2102644788
|
|
NM_206933.4(USH2A):c.14310G>A (p.Leu4770=)
|
|
|
NM_206933.4(USH2A):c.14310G>C (p.Leu4770=)
|
rs1046885422
|
|
NM_206933.4(USH2A):c.14310G>T (p.Leu4770=)
|
rs1046885422
|
|
NM_206933.4(USH2A):c.14322C>A (p.Ser4774Arg)
|
|
|
NM_206933.4(USH2A):c.14323G>A (p.Ala4775Thr)
|
|
|
NM_206933.4(USH2A):c.14328T>C (p.His4776=)
|
|
|
NM_206933.4(USH2A):c.1432G>T (p.Glu478Ter)
|
rs1364214310
|
|
NM_206933.4(USH2A):c.14331G>C (p.Gly4777=)
|
rs1558037835
|
|
NM_206933.4(USH2A):c.14338A>G (p.Thr4780Ala)
|
|
|
NM_206933.4(USH2A):c.14343+11G>A
|
|
|
NM_206933.4(USH2A):c.14343+13G>C
|
|
|
NM_206933.4(USH2A):c.14343+18A>C
|
|
|
NM_206933.4(USH2A):c.14343+1G>A
|
rs2102644733
|
|
NM_206933.4(USH2A):c.14343+4A>G
|
|
|
NM_206933.4(USH2A):c.14343+7A>G
|
|
|
NM_206933.4(USH2A):c.14343+7dup
|
|
|
NM_206933.4(USH2A):c.14344-12T>C
|
|
|
NM_206933.4(USH2A):c.14344-13C>T
|
|
|
NM_206933.4(USH2A):c.14344-15T>C
|
rs368861869
|
|
NM_206933.4(USH2A):c.14344-16T>C
|
|
|
NM_206933.4(USH2A):c.14344-16TTCC[4]
|
rs1240494563
|
|
NM_206933.4(USH2A):c.14344-17C>T
|
|
|
NM_206933.4(USH2A):c.14344-20A>G
|
|
|
NM_206933.4(USH2A):c.14344-7T>C
|
rs1571929613
|
|
NM_206933.4(USH2A):c.14346A>C (p.Leu4782=)
|
|
|
NM_206933.4(USH2A):c.14346A>G (p.Leu4782=)
|
|
|
NM_206933.4(USH2A):c.1434G>A (p.Glu478=)
|
rs35730265
|
|
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter)
|
rs746837034
|
|
NM_206933.4(USH2A):c.14361C>T (p.Ala4787=)
|
|
|
NM_206933.4(USH2A):c.14364C>T (p.Thr4788=)
|
|
|
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)
|
rs1571929573
|
|
NM_206933.4(USH2A):c.14376C>T (p.Leu4792=)
|
|
|
NM_206933.4(USH2A):c.14381G>A (p.Gly4794Asp)
|
|
|
NM_206933.4(USH2A):c.14385T>G (p.Leu4795=)
|
|
|
NM_206933.4(USH2A):c.14397T>C (p.Thr4799=)
|
rs1433993095
|
|
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)
|
rs1553250192
|
|
NM_206933.4(USH2A):c.14403C>T (p.Tyr4801=)
|
rs2102643255
|
|
NM_206933.4(USH2A):c.14404T>G (p.Ser4802Ala)
|
|
|
NM_206933.4(USH2A):c.14407_14420delinsTCA (p.Ile4803fs)
|
|
|
NM_206933.4(USH2A):c.14407_14431del (p.Ile4803fs)
|
|
|
NM_206933.4(USH2A):c.14408T>C (p.Ile4803Thr)
|
rs1056524280
|
|
NM_206933.4(USH2A):c.14408_14420del (p.Ile4803fs)
|
|
|
NM_206933.4(USH2A):c.1440A>G (p.Val480=)
|
rs2037661934
|
|
NM_206933.4(USH2A):c.14413G>T (p.Val4805Leu)
|
rs147532612
|
|
NM_206933.4(USH2A):c.14422T>G (p.Cys4808Gly)
|
rs1656943516
|
|
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
|
|
|
NM_206933.4(USH2A):c.14429G>T (p.Cys4810Phe)
|
|
|
NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr)
|
rs746985615
|
|
NM_206933.4(USH2A):c.14437T>C (p.Cys4813Arg)
|
|
|
NM_206933.4(USH2A):c.14437T>G (p.Cys4813Gly)
|
|
|
NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer)
|
rs1656942613
|
|
NM_206933.4(USH2A):c.14441G>T (p.Cys4814Phe)
|
rs2102643210
|
|
NM_206933.4(USH2A):c.14442C>T (p.Cys4814=)
|
|
|
NM_206933.4(USH2A):c.14445C>T (p.Ser4815=)
|
|
|
NM_206933.4(USH2A):c.14449G>A (p.Gly4817Arg)
|
|
|
NM_206933.4(USH2A):c.1444G>A (p.Ala482Thr)
|
rs767953686
|
|
NM_206933.4(USH2A):c.14458_14505del (p.Ala4820_Pro4835del)
|
|
|
NM_206933.4(USH2A):c.14463A>G (p.Glu4821=)
|
rs2102643188
|
|
NM_206933.4(USH2A):c.14465T>C (p.Leu4822Pro)
|
|
|
NM_206933.4(USH2A):c.14468G>T (p.Arg4823Ile)
|
rs1454673004
|
|
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
|
|
|
NM_206933.4(USH2A):c.1447A>G (p.Thr483Ala)
|
|
|
NM_206933.4(USH2A):c.14483del (p.Pro4828fs)
|
|
|
NM_206933.4(USH2A):c.14487C>G (p.Pro4829=)
|
|
|
NM_206933.4(USH2A):c.14487C>T (p.Pro4829=)
|
|
|
NM_206933.4(USH2A):c.14487del (p.Ser4830fs)
|
rs2102643165
|
|
NM_206933.4(USH2A):c.14493A>G (p.Gly4831=)
|
rs113716139
|
|
NM_206933.4(USH2A):c.14495T>G (p.Leu4832Arg)
|
rs756183521
|
|
NM_206933.4(USH2A):c.1449G>C (p.Thr483=)
|
rs755603663
|
|
NM_206933.4(USH2A):c.1449G>T (p.Thr483=)
|
|
|
NM_206933.4(USH2A):c.144A>G (p.Lys48=)
|
|
|
NM_206933.4(USH2A):c.14502T>C (p.Ser4834=)
|
rs757597534
|
|
NM_206933.4(USH2A):c.14502_14503del (p.Pro4835fs)
|
rs794727830
|
|
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter)
|
rs766370703
|
|
NM_206933.4(USH2A):c.1450del (p.Gln484fs)
|
|
|
NM_206933.4(USH2A):c.14512G>A (p.Gly4838Arg)
|
rs533097255
|
|
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu)
|
rs41315587
|
|
NM_206933.4(USH2A):c.14514G>A (p.Gly4838=)
|
|
|
NM_206933.4(USH2A):c.14517G>T (p.Thr4839=)
|
|
|
NM_206933.4(USH2A):c.14518C>T (p.Leu4840=)
|
rs1656939166
|
|
NM_206933.4(USH2A):c.14520G>A (p.Leu4840=)
|
|
|
NM_206933.4(USH2A):c.14525C>T (p.Ser4842Leu)
|
rs1558037018
|
|
NM_206933.4(USH2A):c.14527A>G (p.Arg4843Gly)
|
|
|
NM_206933.4(USH2A):c.14529del (p.Thr4844fs)
|
rs1656938047
|
|
NM_206933.4(USH2A):c.14531C>A (p.Thr4844Lys)
|
rs200570742
|
|
NM_206933.4(USH2A):c.14532_14535del (p.Ala4845fs)
|
|
|
NM_206933.4(USH2A):c.14535C>T (p.Ala4845=)
|
|
|
NM_206933.4(USH2A):c.14537C>G (p.Ser4846Cys)
|
rs781558053
|
|
NM_206933.4(USH2A):c.14538C>A (p.Ser4846=)
|
rs2102643069
|
|
NM_206933.4(USH2A):c.14544G>T (p.Arg4848=)
|
|
|
NM_206933.4(USH2A):c.14551_14560del (p.Pro4851fs)
|
|
|
NM_206933.4(USH2A):c.14561T>C (p.Phe4854Ser)
|
|
|
NM_206933.4(USH2A):c.14561del (p.Phe4854fs)
|
|
|
NM_206933.4(USH2A):c.14565del (p.Asn4856fs)
|
|
|
NM_206933.4(USH2A):c.14568T>C (p.Asn4856=)
|
|
|
NM_206933.4(USH2A):c.14569G>A (p.Gly4857Ser)
|
|
|
NM_206933.4(USH2A):c.14573T>A (p.Val4858Asp)
|
|
|
NM_206933.4(USH2A):c.14580C>T (p.His4860=)
|
rs766921811
|
|
NM_206933.4(USH2A):c.14582+10C>G
|
rs370535131
|
|
NM_206933.4(USH2A):c.14582+12G>A
|
|
|
NM_206933.4(USH2A):c.14582+13G>A
|
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14582+5T>C
|
rs2102642980
|
|
NM_206933.4(USH2A):c.14582+7G>C
|
rs1408750608
|
|
NM_206933.4(USH2A):c.14582+8G>A
|
rs1419220096
|
|
NM_206933.4(USH2A):c.14583-19G>C
|
|
|
NM_206933.4(USH2A):c.14583-1G>T
|
|
|
NM_206933.4(USH2A):c.14583-20C>T
|
|
|
NM_206933.4(USH2A):c.14583-6T>C
|
rs1571928655
|
|
NM_206933.4(USH2A):c.14583-7A>G
|
rs2102642309
|
|
NM_206933.4(USH2A):c.14583-9del
|
|
|
NM_206933.4(USH2A):c.14585A>G (p.Tyr4862Cys)
|
|
|
NM_206933.4(USH2A):c.14589A>G (p.Glu4863=)
|
|
|
NM_206933.4(USH2A):c.14592C>T (p.Leu4864=)
|
rs2102642296
|
|
NM_206933.4(USH2A):c.14595A>G (p.Gln4865=)
|
|
|
NM_206933.4(USH2A):c.14604G>T (p.Val4868=)
|
rs267598370
|
|
NM_206933.4(USH2A):c.14609G>A (p.Cys4870Tyr)
|
rs2102642261
|
|
NM_206933.4(USH2A):c.1461T>C (p.Phe487=)
|
rs774701216
|
|
NM_206933.4(USH2A):c.14620_14629del (p.Ser4874fs)
|
|
|
NM_206933.4(USH2A):c.14622A>T (p.Ser4874=)
|
rs2102642248
|
|
NM_206933.4(USH2A):c.14627T>C (p.Leu4876Pro)
|
|
|
NM_206933.4(USH2A):c.14630C>G (p.Pro4877Arg)
|
|
|
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly)
|
rs779400517
|
|
NM_206933.4(USH2A):c.14635A>G (p.Thr4879Ala)
|
rs745580452
|
|
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter)
|
rs948087886
|
|
NM_206933.4(USH2A):c.14654C>A (p.Thr4885Lys)
|
rs2102642208
|
|
NM_206933.4(USH2A):c.14663C>T (p.Thr4888Met)
|
|
|
NM_206933.4(USH2A):c.14664G>C (p.Thr4888=)
|
rs111033525
|
|
NM_206933.4(USH2A):c.14664G>T (p.Thr4888=)
|
rs111033525
|
|
NM_206933.4(USH2A):c.14667G>C (p.Gly4889=)
|
rs1177677746
|
|
NM_206933.4(USH2A):c.14667G>T (p.Gly4889=)
|
|
|
NM_206933.4(USH2A):c.14668C>T (p.Leu4890=)
|
|
|
NM_206933.4(USH2A):c.1467del (p.His490fs)
|
rs1371262635
|
|
NM_206933.4(USH2A):c.14682C>A (p.Ala4894=)
|
rs2102642170
|
|
NM_206933.4(USH2A):c.14682C>T (p.Ala4894=)
|
|
|
NM_206933.4(USH2A):c.14686C>T (p.Leu4896Phe)
|
rs577860868
|
|
NM_206933.4(USH2A):c.14691G>A (p.Gly4897=)
|
rs1656899183
|
|
NM_206933.4(USH2A):c.14697C>G (p.Leu4899=)
|
rs776936577
|
|
NM_206933.4(USH2A):c.14697C>T (p.Leu4899=)
|
|
|
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)
|
rs1553250072
|
|
NM_206933.4(USH2A):c.146T>A (p.Val49Asp)
|
rs1553258115
|
|
NM_206933.4(USH2A):c.14709C>T (p.Thr4903=)
|
|
|
NM_206933.4(USH2A):c.1470T>C (p.His490=)
|
rs749304120
|
|
NM_206933.4(USH2A):c.14715C>T (p.Tyr4905=)
|
rs1424473974
|
|
NM_206933.4(USH2A):c.14718G>A (p.Lys4906=)
|
rs144520489
|
|
NM_206933.4(USH2A):c.14724A>G (p.Arg4908=)
|
|
|
NM_206933.4(USH2A):c.14727G>T (p.Val4909=)
|
rs2102642116
|
|
NM_206933.4(USH2A):c.1472G>A (p.Gly491Glu)
|
rs1310745557
|
|
NM_206933.4(USH2A):c.14734_14749del (p.His4912fs)
|
|
|
NM_206933.4(USH2A):c.14736C>A (p.His4912Gln)
|
rs768786074
|
|
NM_206933.4(USH2A):c.1473_1474delinsTT (p.Gln492Ter)
|
|
|
NM_206933.4(USH2A):c.14742G>A (p.Glu4914=)
|
|
|
NM_206933.4(USH2A):c.14748C>A (p.Gly4916=)
|
rs749572330
|
|
NM_206933.4(USH2A):c.14753C>A (p.Thr4918Lys)
|
rs56136489
|
|
NM_206933.4(USH2A):c.14757T>C (p.Ala4919=)
|
rs2102642067
|
|
NM_206933.4(USH2A):c.14760C>G (p.Ser4920=)
|
rs778669346
|
|
NM_206933.4(USH2A):c.1476G>A (p.Gln492=)
|
|
|
NM_206933.4(USH2A):c.1476_1491del (p.Tyr493fs)
|
|
|
NM_206933.4(USH2A):c.14775C>T (p.Phe4925=)
|
|
|
NM_206933.4(USH2A):c.14776A>C (p.Thr4926Pro)
|
rs2102642050
|
|
NM_206933.4(USH2A):c.14777_14783del (p.Thr4926fs)
|
rs1571928405
|
|
NM_206933.4(USH2A):c.14780C>T (p.Thr4927Ile)
|
|
|
NM_206933.4(USH2A):c.14781C>G (p.Thr4927=)
|
rs2102642047
|
|
NM_206933.4(USH2A):c.14787del (p.Glu4930fs)
|
rs34713174
|
|
NM_206933.4(USH2A):c.14791+12T>C
|
|
|
NM_206933.4(USH2A):c.14791+13G>T
|
|
|
NM_206933.4(USH2A):c.14791+15C>T
|
|
|
NM_206933.4(USH2A):c.14791+18C>T
|
|
|
NM_206933.4(USH2A):c.14791+1G>A
|
rs1656892077
|
|
NM_206933.4(USH2A):c.14791+20A>G
|
|
|
NM_206933.4(USH2A):c.14791+2T>A
|
rs1553250050
|
|
NM_206933.4(USH2A):c.14791+4A>G
|
rs1408904076
|
|
NM_206933.4(USH2A):c.14792-111del
|
rs56212994
|
|
NM_206933.4(USH2A):c.14792-128_14792-127dup
|
rs56212994
|
|
NM_206933.4(USH2A):c.14792-128dup
|
rs56212994
|
|
NM_206933.4(USH2A):c.14792-14C>G
|
|
|
NM_206933.4(USH2A):c.14792-15A>G
|
|
|
NM_206933.4(USH2A):c.14792-17C>T
|
|
|
NM_206933.4(USH2A):c.14792-19T>C
|
|
|
NM_206933.4(USH2A):c.14792-1G>A
|
|
|
NM_206933.4(USH2A):c.14792-20A>G
|
|
|
NM_206933.4(USH2A):c.14792-20del
|
|
|
NM_206933.4(USH2A):c.14792-4A>C
|
|
|
NM_206933.4(USH2A):c.14792-5C>T
|
rs1404276963
|
|
NM_206933.4(USH2A):c.14792-67del
|
rs371387260
|
|
NM_206933.4(USH2A):c.14792-69_14792-67del
|
rs371387260
|
|
NM_206933.4(USH2A):c.14792-7C>T
|
|
|
NM_206933.4(USH2A):c.14792-9T>C
|
rs2102636168
|
|
NM_206933.4(USH2A):c.14796T>G (p.Pro4932=)
|
rs1173056797
|
|
NM_206933.4(USH2A):c.1479C>A (p.Tyr493Ter)
|
|
|
NM_206933.4(USH2A):c.147T>A (p.Val49=)
|
|
|
NM_206933.4(USH2A):c.147T>C (p.Val49=)
|
rs1553258114
|
|
NM_206933.4(USH2A):c.14802C>A (p.Tyr4934Ter)
|
|
|
NM_206933.4(USH2A):c.14803C>A (p.Arg4935=)
|
rs146733615
|
|
NM_206933.4(USH2A):c.14807C>A (p.Ala4936Asp)
|
rs1656651399
|
|
NM_206933.4(USH2A):c.14817G>T (p.Ser4939=)
|
|
|
NM_206933.4(USH2A):c.14823C>T (p.Asp4941=)
|
rs2102636104
|
|
NM_206933.4(USH2A):c.14826C>A (p.Ser4942Arg)
|
|
|
NM_206933.4(USH2A):c.14828A>G (p.Asn4943Ser)
|
rs1656649391
|
|
NM_206933.4(USH2A):c.14829T>C (p.Asn4943=)
|
rs2102636087
|
|
NM_206933.4(USH2A):c.14831del (p.Leu4944fs)
|
rs2102636085
|
|
NM_206933.4(USH2A):c.14832G>A (p.Leu4944=)
|
rs556415914
|
|
NM_206933.4(USH2A):c.14834_14837del (p.Ser4945fs)
|
rs2102636068
|
|
NM_206933.4(USH2A):c.14838G>A (p.Val4946=)
|
|
|
NM_206933.4(USH2A):c.14838G>T (p.Val4946=)
|
rs949583594
|
|
NM_206933.4(USH2A):c.14838_14839del (p.Val4949fs)
|
rs2102636059
|
|
NM_206933.4(USH2A):c.14841G>A (p.Val4947=)
|
|
|
NM_206933.4(USH2A):c.14841G>T (p.Val4947=)
|
|
|
NM_206933.4(USH2A):c.14843G>C (p.Cys4948Ser)
|
|
|
NM_206933.4(USH2A):c.14847G>A (p.Val4949=)
|
rs1308384689
|
|
NM_206933.4(USH2A):c.14851T>G (p.Trp4951Gly)
|
|
|
NM_206933.4(USH2A):c.14857G>T (p.Asp4953Tyr)
|
|
|
NM_206933.4(USH2A):c.14857dup (p.Asp4953fs)
|
rs2102636047
|
|
NM_206933.4(USH2A):c.14859C>T (p.Asp4953=)
|
rs1571923764
|
|
NM_206933.4(USH2A):c.14865C>G (p.Phe4955Leu)
|
rs1656647981
|
|
NM_206933.4(USH2A):c.14865C>T (p.Phe4955=)
|
rs1656647981
|
|
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)
|
rs1656646221
|
|
NM_206933.4(USH2A):c.14874C>T (p.Asn4958=)
|
rs749286172
|
|
NM_206933.4(USH2A):c.14876G>A (p.Gly4959Asp)
|
rs1656647412
|
|
NM_206933.4(USH2A):c.14877C>G (p.Gly4959=)
|
rs1459541018
|
|
NM_206933.4(USH2A):c.1487C>T (p.Thr496Ile)
|
|
|
NM_206933.4(USH2A):c.14880A>G (p.Gln4960=)
|
rs780087144
|
|
NM_206933.4(USH2A):c.14880_14881insGA (p.Leu4961fs)
|
rs1656647155
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
NM_206933.4(USH2A):c.14888A>G (p.Glu4963Gly)
|
rs2102636000
|
|
NM_206933.4(USH2A):c.14889G>A (p.Glu4963=)
|
rs1571923733
|
|
NM_206933.4(USH2A):c.14892C>A (p.Tyr4964Ter)
|
|
|
NM_206933.4(USH2A):c.14893G>A (p.Val4965Met)
|
rs149289393
|
|
NM_206933.4(USH2A):c.14893G>C (p.Val4965Leu)
|
|
|
NM_206933.4(USH2A):c.14893_14900del (p.Val4965fs)
|
|
|
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs)
|
rs1553249452
|
|
NM_206933.4(USH2A):c.14897del (p.Val4965_Leu4966insTer)
|
|
|
NM_206933.4(USH2A):c.1489G>T (p.Glu497Ter)
|
|
|
NM_206933.4(USH2A):c.148T>C (p.Ser50Pro)
|
|
|
NM_206933.4(USH2A):c.14901C>G (p.Thr4967=)
|
rs397517993
|
|
NM_206933.4(USH2A):c.14901C>T (p.Thr4967=)
|
rs397517993
|
|
NM_206933.4(USH2A):c.14905G>A (p.Gly4969Arg)
|
|
|
NM_206933.4(USH2A):c.14905G>T (p.Gly4969Ter)
|
rs753226272
|
|
NM_206933.4(USH2A):c.14907A>G (p.Gly4969=)
|
rs1656645130
|
|
NM_206933.4(USH2A):c.14909G>A (p.Gly4970Glu)
|
|
|
NM_206933.4(USH2A):c.14910G>A (p.Gly4970=)
|
|
|
NM_206933.4(USH2A):c.14912G>A (p.Arg4971Gln)
|
|
|
NM_206933.4(USH2A):c.14915G>A (p.Arg4972His)
|
|
|
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
|
|
|
NM_206933.4(USH2A):c.14922C>T (p.Tyr4974=)
|
|
|
NM_206933.4(USH2A):c.14923del (p.Ser4975fs)
|
|
|
NM_206933.4(USH2A):c.14931G>A (p.Leu4977=)
|
rs1247695444
|
|
NM_206933.4(USH2A):c.14934C>T (p.Asp4978=)
|
|
|
NM_206933.4(USH2A):c.14936C>A (p.Thr4979Asn)
|
rs1453030908
|
|
NM_206933.4(USH2A):c.14937C>T (p.Thr4979=)
|
rs2102635907
|
|
NM_206933.4(USH2A):c.14939C>T (p.Thr4980Ile)
|
rs1656642884
|
|
NM_206933.4(USH2A):c.14941C>A (p.Leu4981Ile)
|
rs2102635897
|
|
NM_206933.4(USH2A):c.14941del (p.Leu4981fs)
|
|
|
NM_206933.4(USH2A):c.14945A>G (p.Tyr4982Cys)
|
|
|
NM_206933.4(USH2A):c.14946C>T (p.Tyr4982=)
|
rs758504545
|
|
NM_206933.4(USH2A):c.14948T>A (p.Ile4983Lys)
|
rs765747576
|
|
NM_206933.4(USH2A):c.14951C>T (p.Pro4984Leu)
|
|
|
NM_206933.4(USH2A):c.14958G>A (p.Thr4986=)
|
|
|
NM_206933.4(USH2A):c.14958G>T (p.Thr4986=)
|
rs762564168
|
|
NM_206933.4(USH2A):c.14965A>C (p.Lys4989Gln)
|
|
|
NM_206933.4(USH2A):c.14965A>T (p.Lys4989Ter)
|
rs770658506
|
|
NM_206933.4(USH2A):c.14966A>G (p.Lys4989Arg)
|
|
|
NM_206933.4(USH2A):c.14968+10T>G
|
rs2102635826
|
|
NM_206933.4(USH2A):c.14968+18G>A
|
|
|
NM_206933.4(USH2A):c.14968+1G>C
|
|
|
NM_206933.4(USH2A):c.14968+234C>T
|
rs80269349
|
|
NM_206933.4(USH2A):c.14968+2T>G
|
rs1656640356
|
|
NM_206933.4(USH2A):c.14968+9C>T
|
|
|
NM_206933.4(USH2A):c.14969-12C>T
|
rs1558033308
|
|
NM_206933.4(USH2A):c.14969-15C>A
|
rs2102634740
|
|
NM_206933.4(USH2A):c.14969-15C>T
|
|
|
NM_206933.4(USH2A):c.14969-19del
|
|
|
NM_206933.4(USH2A):c.14969-261G>A
|
rs75547520
|
|
NM_206933.4(USH2A):c.14969-5T>C
|
|
|
NM_206933.4(USH2A):c.14969C>G (p.Thr4990Ser)
|
|
|
NM_206933.4(USH2A):c.14970del (p.Phe4991fs)
|
|
|
NM_206933.4(USH2A):c.14971T>A (p.Phe4991Ile)
|
rs2102634719
|
|
NM_206933.4(USH2A):c.14976T>C (p.Phe4992=)
|
rs1227819337
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.14979C>T (p.Phe4993=)
|
|
|
NM_206933.4(USH2A):c.14991C>T (p.Cys4997=)
|
|
|
NM_206933.4(USH2A):c.14993C>T (p.Thr4998Met)
|
|
|
NM_206933.4(USH2A):c.14994G>T (p.Thr4998=)
|
rs146325401
|
|
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
|
|
|
NM_206933.4(USH2A):c.15003A>G (p.Glu5001=)
|
rs1571922663
|
|
NM_206933.4(USH2A):c.15009T>C (p.Ser5003=)
|
rs1413943403
|
|
NM_206933.4(USH2A):c.1500T>C (p.Val500=)
|
|
|
NM_206933.4(USH2A):c.15010G>T (p.Val5004Phe)
|
|
|
NM_206933.4(USH2A):c.15017C>A (p.Thr5006Lys)
|
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
NM_206933.4(USH2A):c.15022T>C (p.Leu5008=)
|
|
|
NM_206933.4(USH2A):c.15031del (p.Tyr5011fs)
|
rs2102634627
|
|
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs)
|
rs1553249294
|
|
NM_206933.4(USH2A):c.15041C>A (p.Ser5014Tyr)
|
rs1656595783
|
|
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile)
|
rs1029854359
|
|
NM_206933.4(USH2A):c.1504C>G (p.Leu502Val)
|
rs2037659986
|
|
NM_206933.4(USH2A):c.15050T>C (p.Leu5017Pro)
|
rs2102634590
|
|
NM_206933.4(USH2A):c.15052+14A>G
|
|
|
NM_206933.4(USH2A):c.15052+151G>T
|
rs540701486
|
|
NM_206933.4(USH2A):c.15052+15T>A
|
|
|
NM_206933.4(USH2A):c.15052+15_15052+19del
|
|
|
NM_206933.4(USH2A):c.15052+20C>A
|
|
|
NM_206933.4(USH2A):c.15053-10G>T
|
rs1571919508
|
|
NM_206933.4(USH2A):c.15053-15_15053-12del
|
|
|
NM_206933.4(USH2A):c.15053-17_15053-14del
|
|
|
NM_206933.4(USH2A):c.15053-1G>A
|
|
|
NM_206933.4(USH2A):c.15053-2A>C
|
|
|
NM_206933.4(USH2A):c.15053-3C>T
|
|
|
NM_206933.4(USH2A):c.15053-8T>G
|
|
|
NM_206933.4(USH2A):c.15057G>C (p.Leu5019Phe)
|
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.15066A>G (p.Thr5022=)
|
|
|
NM_206933.4(USH2A):c.1506C>A (p.Leu502=)
|
rs35285592
|
|
NM_206933.4(USH2A):c.1506C>T (p.Leu502=)
|
|
|
NM_206933.4(USH2A):c.15072T>G (p.Pro5024=)
|
|
|
NM_206933.4(USH2A):c.15075_15076delinsCG (p.Lys5026Glu)
|
|
|
NM_206933.4(USH2A):c.15081_15082insC (p.Lys5028fs)
|
|
|
NM_206933.4(USH2A):c.15082_15083del (p.Lys5028fs)
|
rs2102630722
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
NM_206933.4(USH2A):c.15096C>T (p.Ser5032=)
|
|
|
NM_206933.4(USH2A):c.150C>T (p.Ser50=)
|
rs2102788981
|
|
NM_206933.4(USH2A):c.15100A>G (p.Ser5034Gly)
|
|
|
NM_206933.4(USH2A):c.15104_15105del (p.Thr5035fs)
|
rs2102630677
|
|
NM_206933.4(USH2A):c.15108G>A (p.Glu5036=)
|
|
|
NM_206933.4(USH2A):c.15111C>G (p.Phe5037Leu)
|
|
|
NM_206933.4(USH2A):c.15111C>T (p.Phe5037=)
|
rs150688328
|
|
NM_206933.4(USH2A):c.15117C>A (p.Ser5039Arg)
|
rs148499621
|
|
NM_206933.4(USH2A):c.15118G>A (p.Glu5040Lys)
|
|
|
NM_206933.4(USH2A):c.15118G>T (p.Glu5040Ter)
|
|
|
NM_206933.4(USH2A):c.15124_15125dup (p.Trp5042fs)
|
rs2102630646
|
|
NM_206933.4(USH2A):c.15125G>A (p.Trp5042Ter)
|
rs2102630643
|
|
NM_206933.4(USH2A):c.15125G>C (p.Trp5042Ser)
|
rs2102630643
|
|
NM_206933.4(USH2A):c.15126G>A (p.Trp5042Ter)
|
rs2102630641
|
|
NM_206933.4(USH2A):c.15126del (p.Trp5042fs)
|
|
|
NM_206933.4(USH2A):c.15129C>T (p.Phe5043=)
|
rs1558031562
|
|
NM_206933.4(USH2A):c.1512C>T (p.His504=)
|
|
|
NM_206933.4(USH2A):c.15132A>T (p.Ile5044=)
|
|
|
NM_206933.4(USH2A):c.15136T>C (p.Leu5046=)
|
rs2102630617
|
|
NM_206933.4(USH2A):c.15139A>G (p.Met5047Val)
|
|
|
NM_206933.4(USH2A):c.15142G>T (p.Ala5048Ser)
|
|
|
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=)
|
rs397517998
|
|
NM_206933.4(USH2A):c.15144G>C (p.Ala5048=)
|
rs397517998
|
|
NM_206933.4(USH2A):c.15149T>C (p.Leu5050Pro)
|
rs2102630593
|
|
NM_206933.4(USH2A):c.15150G>A (p.Leu5050=)
|
|
|
NM_206933.4(USH2A):c.15156G>A (p.Leu5052=)
|
|
|
NM_206933.4(USH2A):c.1515A>G (p.Arg505=)
|
rs2102652955
|
|
NM_206933.4(USH2A):c.15168C>T (p.Ala5056=)
|
|
|
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)
|
|
|
NM_206933.4(USH2A):c.15174dup (p.Leu5059fs)
|
|
|
NM_206933.4(USH2A):c.15175C>T (p.Leu5059=)
|
rs2102630556
|
|
NM_206933.4(USH2A):c.15177G>C (p.Leu5059=)
|
|
|
NM_206933.4(USH2A):c.15180C>T (p.Ser5060=)
|
rs2102630549
|
|
NM_206933.4(USH2A):c.15190C>T (p.Gln5064Ter)
|
|
|
NM_206933.4(USH2A):c.15199del (p.Ile5067fs)
|
rs2102630527
|
|
NM_206933.4(USH2A):c.151A>G (p.Ile51Val)
|
rs886043442
|
|
NM_206933.4(USH2A):c.15201C>T (p.Ile5067=)
|
rs2102630523
|
|
NM_206933.4(USH2A):c.15203A>G (p.His5068Arg)
|
|
|
NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter)
|
rs1426135314
|
|
NM_206933.4(USH2A):c.15211C>A (p.Pro5071Thr)
|
|
|
NM_206933.4(USH2A):c.15212C>T (p.Pro5071Leu)
|
rs556353178
|
|
NM_206933.4(USH2A):c.15216T>C (p.Tyr5072=)
|
|
|
NM_206933.4(USH2A):c.1521T>C (p.Tyr507=)
|
|
|
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)
|
rs1571701069
|
|
NM_206933.4(USH2A):c.15223_15224del (p.Glu5075fs)
|
|
|
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr)
|
rs397517999
|
|
NM_206933.4(USH2A):c.15234C>T (p.Pro5078=)
|
rs940411523
|
|
NM_206933.4(USH2A):c.15237G>A (p.Leu5079=)
|
rs748666515
|
|
NM_206933.4(USH2A):c.15237G>C (p.Leu5079Phe)
|
|
|
NM_206933.4(USH2A):c.15238G>T (p.Val5080Leu)
|
rs1558031463
|
|
NM_206933.4(USH2A):c.15244C>A (p.Leu5082Ile)
|
|
|
NM_206933.4(USH2A):c.15247C>T (p.Gln5083Ter)
|
rs2102630468
|
|
NM_206933.4(USH2A):c.15249G>A (p.Gln5083=)
|
|
|
NM_206933.4(USH2A):c.15252G>A (p.Lys5084=)
|
|
|
NM_206933.4(USH2A):c.15259T>A (p.Ser5087Thr)
|
rs1656409856
|
|
NM_206933.4(USH2A):c.15260_15263dup (p.Leu5089fs)
|
|
|
NM_206933.4(USH2A):c.15261T>G (p.Ser5087=)
|
|
|
NM_206933.4(USH2A):c.15266_15294del (p.Leu5089fs)
|
|
|
NM_206933.4(USH2A):c.15267_15275delinsC (p.Leu5089fs)
|
rs1553248812
|
|
NM_206933.4(USH2A):c.15268A>C (p.Asn5090His)
|
|
|
NM_206933.4(USH2A):c.1526T>G (p.Val509Gly)
|
|
|
NM_206933.4(USH2A):c.15270T>C (p.Asn5090=)
|
rs2102630430
|
|
NM_206933.4(USH2A):c.15276C>T (p.Tyr5092=)
|
rs1158377047
|
|
NM_206933.4(USH2A):c.15277C>G (p.Pro5093Ala)
|
rs758329379
|
|
NM_206933.4(USH2A):c.1527G>A (p.Val509=)
|
|
|
NM_206933.4(USH2A):c.15282G>A (p.Pro5094=)
|
rs754800723
|
|
NM_206933.4(USH2A):c.15285G>A (p.Gly5095=)
|
|
|
NM_206933.4(USH2A):c.15285G>C (p.Gly5095=)
|
|
|
NM_206933.4(USH2A):c.15286del (p.Glu5096fs)
|
rs1656408131
|
|
NM_206933.4(USH2A):c.15290A>G (p.Asn5097Ser)
|
|
|
NM_206933.4(USH2A):c.15297+10T>C
|
|
|
NM_206933.4(USH2A):c.15297+17G>A
|
|
|
NM_206933.4(USH2A):c.15297+1G>A
|
|
|
NM_206933.4(USH2A):c.15297+1G>T
|
rs767630412
|
|
NM_206933.4(USH2A):c.15297+228C>G
|
rs147013793
|
|
NM_206933.4(USH2A):c.15297+8T>G
|
rs1571919131
|
|
NM_206933.4(USH2A):c.15297+9G>A
|
|
|
NM_206933.4(USH2A):c.15298-13A>C
|
|
|
NM_206933.4(USH2A):c.15298-18_15301dup
|
rs1553248238
|
|
NM_206933.4(USH2A):c.15298-19dup
|
rs2102625440
|
|
NM_206933.4(USH2A):c.15298-20C>T
|
|
|
NM_206933.4(USH2A):c.15298-21_15298-18del
|
rs760226151
|
|
NM_206933.4(USH2A):c.15298-236A>G
|
rs73087442
|
|
NM_206933.4(USH2A):c.15298-6T>C
|
rs2102625425
|
|
NM_206933.4(USH2A):c.15301T>C (p.Leu5101=)
|
rs1456575221
|
|
NM_206933.4(USH2A):c.15303A>G (p.Leu5101=)
|
rs1656170350
|
|
NM_206933.4(USH2A):c.15306C>G (p.Ala5102=)
|
rs149506333
|
|
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
|
|
|
NM_206933.4(USH2A):c.15312C>T (p.Thr5104=)
|
|
|
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)
|
rs767209934
|
|
NM_206933.4(USH2A):c.15321C>T (p.Pro5107=)
|
rs397518000
|
|
NM_206933.4(USH2A):c.15322del (p.Arg5108fs)
|
rs1553248234
|
|
NM_206933.4(USH2A):c.15324G>C (p.Arg5108=)
|
rs781434344
|
|
NM_206933.4(USH2A):c.15327T>C (p.Ser5109=)
|
rs757291187
|
|
NM_206933.4(USH2A):c.15327T>G (p.Ser5109=)
|
|
|
NM_206933.4(USH2A):c.15329G>A (p.Gly5110Glu)
|
|
|
NM_206933.4(USH2A):c.15336T>A (p.Pro5112=)
|
rs758971496
|
|
NM_206933.4(USH2A):c.15337G>T (p.Val5113Leu)
|
|
|
NM_206933.4(USH2A):c.15338_15339del (p.Val5113fs)
|
|
|
NM_206933.4(USH2A):c.15339G>A (p.Val5113=)
|
rs1321020096
|
|
NM_206933.4(USH2A):c.1534A>G (p.Ile512Val)
|
|
|
NM_206933.4(USH2A):c.15351C>T (p.Ser5117=)
|
rs1656164982
|
|
NM_206933.4(USH2A):c.15353del (p.Asn5118fs)
|
rs1553248224
|
|
NM_206933.4(USH2A):c.15354C>T (p.Asn5118=)
|
rs2102625336
|
|
NM_206933.4(USH2A):c.15355C>A (p.Arg5119=)
|
rs767137840
|
|
NM_206933.4(USH2A):c.15357G>C (p.Arg5119=)
|
rs774068061
|
|
NM_206933.4(USH2A):c.15358A>G (p.Ser5120Gly)
|
|
|
NM_206933.4(USH2A):c.15359G>A (p.Ser5120Asn)
|
rs1349191153
|
|
NM_206933.4(USH2A):c.15360T>C (p.Ser5120=)
|
|
|
NM_206933.4(USH2A):c.15361G>C (p.Ala5121Pro)
|
|
|
NM_206933.4(USH2A):c.1536C>T (p.Ile512=)
|
rs1384240598
|
|
NM_206933.4(USH2A):c.15370C>T (p.Leu5124=)
|
|
|
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
|
rs1656163649
|
|
NM_206933.4(USH2A):c.15372G>T (p.Leu5124=)
|
|
|
NM_206933.4(USH2A):c.15373C>G (p.Arg5125Gly)
|
rs771243585
|
|
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
|
|
|
NM_206933.4(USH2A):c.15376A>C (p.Ile5126Leu)
|
rs1027282224
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.15380del (p.Pro5127fs)
|
rs1553248216
|
|
NM_206933.4(USH2A):c.15381G>A (p.Pro5127=)
|
rs779438442
|
|
NM_206933.4(USH2A):c.15381G>C (p.Pro5127=)
|
rs779438442
|
|
NM_206933.4(USH2A):c.15381G>T (p.Pro5127=)
|
rs779438442
|
|
NM_206933.4(USH2A):c.15389dup (p.Asn5130fs)
|
|
|
NM_206933.4(USH2A):c.15391C>T (p.Gln5131Ter)
|
|
|
NM_206933.4(USH2A):c.15393_15394insGG (p.Thr5132fs)
|
rs2102625236
|
|
NM_206933.4(USH2A):c.153C>T (p.Ile51=)
|
rs1160617615
|
|
NM_206933.4(USH2A):c.15403del (p.Thr5135fs)
|
rs770984400
|
|
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)
|
rs763463859
|
|
NM_206933.4(USH2A):c.15426C>T (p.His5142=)
|
|
|
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)
|
rs111033435
|
|
NM_206933.4(USH2A):c.15429del (p.Ser5144fs)
|
|
|
NM_206933.4(USH2A):c.15435C>T (p.Val5145=)
|
|
|
NM_206933.4(USH2A):c.15439C>T (p.Gln5147Ter)
|
|
|
NM_206933.4(USH2A):c.15440_15443dup (p.Met5149fs)
|
|
|
NM_206933.4(USH2A):c.15444C>T (p.Leu5148=)
|
|
|
NM_206933.4(USH2A):c.15458A>G (p.Asp5153Gly)
|
rs776555719
|
|
NM_206933.4(USH2A):c.1545T>C (p.Ser515=)
|
|
|
NM_206933.4(USH2A):c.15463A>G (p.Lys5155Glu)
|
|
|
NM_206933.4(USH2A):c.15465del (p.Val5156fs)
|
rs769582796
|
|
NM_206933.4(USH2A):c.15465dup (p.Val5156fs)
|
rs769582796
|
|
NM_206933.4(USH2A):c.15468C>T (p.Val5156=)
|
rs2102625148
|
|
NM_206933.4(USH2A):c.15471G>A (p.Leu5157=)
|
rs2102625140
|
|
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
|
|
|
NM_206933.4(USH2A):c.15479del (p.Asn5160fs)
|
|
|
NM_206933.4(USH2A):c.15480C>T (p.Asn5160=)
|
|
|
NM_206933.4(USH2A):c.1548G>A (p.Gly516=)
|
|
|
NM_206933.4(USH2A):c.1548del (p.Arg517fs)
|
|
|
NM_206933.4(USH2A):c.15492A>G (p.Glu5164=)
|
|
|
NM_206933.4(USH2A):c.15496A>T (p.Ile5166Phe)
|
|
|
NM_206933.4(USH2A):c.15498C>T (p.Ile5166=)
|
|
|
NM_206933.4(USH2A):c.15499A>C (p.Met5167Leu)
|
rs755573653
|
|
NM_206933.4(USH2A):c.1550+10T>A
|
rs200728788
|
|
NM_206933.4(USH2A):c.1550+172TA[10]
|
rs67957139
|
|
NM_206933.4(USH2A):c.1550+172TA[11]
|
rs67957139
|
|
NM_206933.4(USH2A):c.1550+172TA[12]
|
rs67957139
|
|
NM_206933.4(USH2A):c.1550+172TA[14]
|
rs67957139
|
|
NM_206933.4(USH2A):c.1550+172TA[15]
|
rs67957139
|
|
NM_206933.4(USH2A):c.1550+172TA[9]
|
rs67957139
|
|
NM_206933.4(USH2A):c.1550+2TAT[2]
|
rs2102652861
|
|
NM_206933.4(USH2A):c.1550+8T>C
|
rs1571700973
|
|
NM_206933.4(USH2A):c.1550+8T>G
|
rs1571700973
|
|
NM_206933.4(USH2A):c.15500T>C (p.Met5167Thr)
|
|
|
NM_206933.4(USH2A):c.1551-10A>G
|
rs2102650728
|
|
NM_206933.4(USH2A):c.1551-10A>T
|
rs2102650728
|
|
NM_206933.4(USH2A):c.1551-15T>A
|
|
|
NM_206933.4(USH2A):c.1551-1G>A
|
|
|
NM_206933.4(USH2A):c.1551-264del
|
rs920410568
|
|
NM_206933.4(USH2A):c.1551-27A>G
|
|
|
NM_206933.4(USH2A):c.1551-2A>G
|
|
|
NM_206933.4(USH2A):c.1551-4G>A
|
|
|
NM_206933.4(USH2A):c.1551-5T>C
|
|
|
NM_206933.4(USH2A):c.1551-5T>G
|
rs770011395
|
|
NM_206933.4(USH2A):c.1551-7T>C
|
rs2102650723
|
|
NM_206933.4(USH2A):c.1551-9T>A
|
rs995537756
|
|
NM_206933.4(USH2A):c.15510C>T (p.Asn5170=)
|
rs2102625079
|
|
NM_206933.4(USH2A):c.15516A>G (p.Gly5172=)
|
|
|
NM_206933.4(USH2A):c.15519+20C>A
|
|
|
NM_206933.4(USH2A):c.15519+20C>T
|
|
|
NM_206933.4(USH2A):c.15519+3G>A
|
|
|
NM_206933.4(USH2A):c.15519+9G>C
|
rs2102625059
|
|
NM_206933.4(USH2A):c.15520-10T>C
|
|
|
NM_206933.4(USH2A):c.15520-16T>C
|
|
|
NM_206933.4(USH2A):c.15520-19T>C
|
|
|
NM_206933.4(USH2A):c.15520-4dup
|
rs1456785856
|
|
NM_206933.4(USH2A):c.15520-7T>G
|
rs1656003575
|
|
NM_206933.4(USH2A):c.15520-8T>G
|
rs1020138041
|
|
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn)
|
rs774383785
|
|
NM_206933.4(USH2A):c.15528T>C (p.Asp5176=)
|
|
|
NM_206933.4(USH2A):c.15543G>C (p.Met5181Ile)
|
|
|
NM_206933.4(USH2A):c.15545A>C (p.Asn5182Thr)
|
|
|
NM_206933.4(USH2A):c.15548C>T (p.Ala5183Val)
|
|
|
NM_206933.4(USH2A):c.15552C>G (p.Ile5184Met)
|
rs1656001161
|
|
NM_206933.4(USH2A):c.15554A>G (p.Lys5185Arg)
|
|
|
NM_206933.4(USH2A):c.15559T>A (p.Phe5187Ile)
|
|
|
NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr)
|
rs779531682
|
|
NM_206933.4(USH2A):c.15567A>G (p.Ser5189=)
|
rs2102621263
|
|
NM_206933.4(USH2A):c.15576_15579del (p.Lys5192fs)
|
|
|
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
|
rs727505155
|
|
NM_206933.4(USH2A):c.15584C>G (p.Thr5195Ser)
|
rs915038916
|
|
NM_206933.4(USH2A):c.15588A>G (p.Thr5196=)
|
|
|
NM_206933.4(USH2A):c.1558T>A (p.Cys520Ser)
|
rs2102650681
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
NM_206933.4(USH2A):c.15597C>T (p.Asp5199=)
|
rs2102621229
|
|
NM_206933.4(USH2A):c.15599C>A (p.Thr5200Asn)
|
rs2102621224
|
|
NM_206933.4(USH2A):c.15601C>A (p.His5201Asn)
|
rs1571912105
|
|
NM_206933.4(USH2A):c.15603C>T (p.His5201=)
|
rs2102621218
|
|
NM_206933.4(USH2A):c.15604C>T (p.Leu5202=)
|
|
|
NM_206933.4(USH2A):c.15606G>C (p.Leu5202=)
|
rs1260512229
|
|
NM_206933.4(USH2A):c.15606G>T (p.Leu5202=)
|
|
|
NM_206933.4(USH2A):c.1560C>T (p.Cys520=)
|
rs1175424761
|
|
NM_206933.4(USH2A):c.1569T>C (p.His523=)
|
rs747510816
|
|
NM_206933.4(USH2A):c.156G>A (p.Val52=)
|
rs1394982484
|
|
NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp)
|
|
|
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)
|
rs772624410
|
|
NM_206933.4(USH2A):c.1579T>C (p.Cys527Arg)
|
rs1207157360
|
|
NM_206933.4(USH2A):c.1579T>G (p.Cys527Gly)
|
rs1207157360
|
|
NM_206933.4(USH2A):c.157C>G (p.Pro53Ala)
|
|
|
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe)
|
rs755735339
|
|
NM_206933.4(USH2A):c.1588_1589insG (p.Thr530fs)
|
|
|
NM_206933.4(USH2A):c.1589C>G (p.Thr530Arg)
|
rs76458883
|
|
NM_206933.4(USH2A):c.1590A>C (p.Thr530=)
|
|
|
NM_206933.4(USH2A):c.1593C>T (p.Ser531=)
|
rs2102650600
|
|
NM_206933.4(USH2A):c.1596G>A (p.Gln532=)
|
rs1383618728
|
|
NM_206933.4(USH2A):c.1599A>G (p.Pro533=)
|
rs2037619215
|
|
NM_206933.4(USH2A):c.1602T>C (p.Tyr534=)
|
|
|
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)
|
rs111033273
|
|
NM_206933.4(USH2A):c.1608C>G (p.Cys536Trp)
|
|
|
NM_206933.4(USH2A):c.1609C>T (p.Leu537Phe)
|
|
|
NM_206933.4(USH2A):c.1617C>T (p.Ser539=)
|
rs2037618439
|
|
NM_206933.4(USH2A):c.1618C>T (p.Gln540Ter)
|
rs1558036860
|
|
NM_206933.4(USH2A):c.162C>T (p.Thr54=)
|
rs2039689631
|
|
NM_206933.4(USH2A):c.1637G>A (p.Gly546Glu)
|
rs267598378
|
|
NM_206933.4(USH2A):c.1638A>C (p.Gly546=)
|
rs1195773305
|
|
NM_206933.4(USH2A):c.1644+10A>G
|
rs2102650453
|
|
NM_206933.4(USH2A):c.1644+13T>A
|
|
|
NM_206933.4(USH2A):c.1644+13T>G
|
|
|
NM_206933.4(USH2A):c.1644+14T>C
|
|
|
NM_206933.4(USH2A):c.1644+14dup
|
|
|
NM_206933.4(USH2A):c.1644+18C>A
|
|
|
NM_206933.4(USH2A):c.1644+18C>G
|
|
|
NM_206933.4(USH2A):c.1644+19A>C
|
rs777633505
|
|
NM_206933.4(USH2A):c.1644+19A>G
|
|
|
NM_206933.4(USH2A):c.1644+20T>C
|
|
|
NM_206933.4(USH2A):c.1644+4A>G
|
|
|
NM_206933.4(USH2A):c.1644+5G>T
|
|
|
NM_206933.4(USH2A):c.1644+9T>C
|
rs2102650456
|
|
NM_206933.4(USH2A):c.1644T>A (p.His548Gln)
|
|
|
NM_206933.4(USH2A):c.1645-12T>C
|
|
|
NM_206933.4(USH2A):c.1645-143C>T
|
rs114399769
|
|
NM_206933.4(USH2A):c.1645-17G>T
|
|
|
NM_206933.4(USH2A):c.1645-18T>A
|
rs2102611191
|
|
NM_206933.4(USH2A):c.1645-18T>C
|
|
|
NM_206933.4(USH2A):c.1645-2A>G
|
|
|
NM_206933.4(USH2A):c.1645-2A>T
|
|
|
NM_206933.4(USH2A):c.1645-4C>T
|
rs2102611166
|
|
NM_206933.4(USH2A):c.1645-5T>C
|
rs2102611168
|
|
NM_206933.4(USH2A):c.1645-8del
|
rs763490382
|
|
NM_206933.4(USH2A):c.1645-8dup
|
rs763490382
|
|
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser)
|
rs1064797139
|
|
NM_206933.4(USH2A):c.1646G>A (p.Cys549Tyr)
|
|
|
NM_206933.4(USH2A):c.1648G>C (p.Asp550His)
|
rs727504805
|
|
NM_206933.4(USH2A):c.1650T>C (p.Asp550=)
|
|
|
NM_206933.4(USH2A):c.1651C>T (p.Arg551Cys)
|
|
|
NM_206933.4(USH2A):c.1655G>C (p.Cys552Ser)
|
|
|
NM_206933.4(USH2A):c.1657T>C (p.Leu553=)
|
rs555331597
|
|
NM_206933.4(USH2A):c.1661C>T (p.Pro554Leu)
|
|
|
NM_206933.4(USH2A):c.1665_1666del (p.Leu555_Tyr556insTer)
|
rs2102611118
|
|
NM_206933.4(USH2A):c.166G>A (p.Ala56Thr)
|
rs2102788940
|
|
NM_206933.4(USH2A):c.1671T>C (p.Asn557=)
|
rs1396863623
|
|
NM_206933.4(USH2A):c.1672G>A (p.Asp558Asn)
|
rs1553327490
|
|
NM_206933.4(USH2A):c.1678C>A (p.Pro560Thr)
|
|
|
NM_206933.4(USH2A):c.1678C>T (p.Pro560Ser)
|
rs147509797
|
|
NM_206933.4(USH2A):c.1679C>A (p.Pro560His)
|
rs753669484
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.1686C>A (p.Arg562=)
|
rs2102611022
|
|
NM_206933.4(USH2A):c.1687C>T (p.Gln563Ter)
|
rs2037017719
|
|
NM_206933.4(USH2A):c.168A>C (p.Ala56=)
|
|
|
NM_206933.4(USH2A):c.1695T>C (p.Asp565=)
|
rs750491239
|
|
NM_206933.4(USH2A):c.1696C>A (p.Gln566Lys)
|
|
|
NM_206933.4(USH2A):c.1696C>T (p.Gln566Ter)
|
|
|
NM_206933.4(USH2A):c.1698A>G (p.Gln566=)
|
rs912953848
|
|
NM_206933.4(USH2A):c.1705G>A (p.Ala569Thr)
|
|
|
NM_206933.4(USH2A):c.1707T>C (p.Ala569=)
|
|
|
NM_206933.4(USH2A):c.1716T>C (p.Cys572=)
|
rs2102610946
|
|
NM_206933.4(USH2A):c.1722T>G (p.Pro574=)
|
rs397518002
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1724G>C (p.Cys575Ser)
|
|
|
NM_206933.4(USH2A):c.1728A>G (p.Gln576=)
|
|
|
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)
|
rs1553327470
|
|
NM_206933.4(USH2A):c.1730G>A (p.Cys577Tyr)
|
|
|
NM_206933.4(USH2A):c.1743C>G (p.Ser581=)
|
rs778651163
|
|
NM_206933.4(USH2A):c.1744A>C (p.Lys582Gln)
|
rs1447197199
|
|
NM_206933.4(USH2A):c.1750del (p.Cys584fs)
|
rs2102610898
|
|
NM_206933.4(USH2A):c.1751G>A (p.Cys584Tyr)
|
|
|
NM_206933.4(USH2A):c.1751G>T (p.Cys584Phe)
|
rs2037016118
|
|
NM_206933.4(USH2A):c.1752C>T (p.Cys584=)
|
|
|
NM_206933.4(USH2A):c.1755T>C (p.His585=)
|
|
|
NM_206933.4(USH2A):c.1757ACA[1] (p.Asn587del)
|
rs2037015853
|
|
NM_206933.4(USH2A):c.1757_1758insATA (p.Tyr586Ter)
|
rs2102610892
|
|
NM_206933.4(USH2A):c.1764C>T (p.Ile588=)
|
|
|
NM_206933.4(USH2A):c.1772A>G (p.Asp591Gly)
|
rs2102610850
|
|
NM_206933.4(USH2A):c.1776A>T (p.Pro592=)
|
|
|
NM_206933.4(USH2A):c.1786_1787delinsAG (p.Glu596Arg)
|
rs2102610807
|
|
NM_206933.4(USH2A):c.1786del (p.Glu596fs)
|
|
|
NM_206933.4(USH2A):c.1791C>T (p.His597=)
|
rs1469624368
|
|
NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala)
|
rs772955674
|
|
NM_206933.4(USH2A):c.1800G>C (p.Gly600=)
|
|
|
NM_206933.4(USH2A):c.1800G>T (p.Gly600=)
|
rs762278625
|
|
NM_206933.4(USH2A):c.1802G>T (p.Gly601Val)
|
|
|
NM_206933.4(USH2A):c.1802GAG[2] (p.Gly603del)
|
rs2037014263
|
|
NM_206933.4(USH2A):c.1802del (p.Gly601fs)
|
|
|
NM_206933.4(USH2A):c.1803A>G (p.Gly601=)
|
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.1822T>C (p.Cys608Arg)
|
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
NM_206933.4(USH2A):c.1827G>A (p.Glu609=)
|
rs983255711
|
|
NM_206933.4(USH2A):c.1827G>C (p.Glu609Asp)
|
|
|
NM_206933.4(USH2A):c.1829A>C (p.His610Pro)
|
rs1571668556
|
|
NM_206933.4(USH2A):c.1836T>C (p.Thr612=)
|
rs1205537282
|
|
NM_206933.4(USH2A):c.1836_1839dup (p.Gly614fs)
|
rs2102610607
|
|
NM_206933.4(USH2A):c.1837A>G (p.Thr613Ala)
|
|
|
NM_206933.4(USH2A):c.1839A>G (p.Thr613=)
|
rs950551285
|
|
NM_206933.4(USH2A):c.1840+17T>A
|
|
|
NM_206933.4(USH2A):c.1840+1G>T
|
|
|
NM_206933.4(USH2A):c.1840+20C>T
|
|
|
NM_206933.4(USH2A):c.1840+2dup
|
|
|
NM_206933.4(USH2A):c.1840+7A>G
|
|
|
NM_206933.4(USH2A):c.1841-10C>T
|
rs201302939
|
|
NM_206933.4(USH2A):c.1841-13T>C
|
|
|
NM_206933.4(USH2A):c.1841-15C>T
|
|
|
NM_206933.4(USH2A):c.1841-17A>C
|
|
|
NM_206933.4(USH2A):c.1841-17A>T
|
|
|
NM_206933.4(USH2A):c.1841-19T>A
|
|
|
NM_206933.4(USH2A):c.1841-1G>A
|
rs2102606531
|
|
NM_206933.4(USH2A):c.1841-20A>G
|
|
|
NM_206933.4(USH2A):c.1841-20del
|
|
|
NM_206933.4(USH2A):c.1841-4G>A
|
rs1199160777
|
|
NM_206933.4(USH2A):c.1841-5T>C
|
rs769855477
|
|
NM_206933.4(USH2A):c.1842A>G (p.Gly614=)
|
|
|
NM_206933.4(USH2A):c.1854G>A (p.Glu618=)
|
|
|
NM_206933.4(USH2A):c.1857G>A (p.Leu619=)
|
|
|
NM_206933.4(USH2A):c.187C>A (p.Arg63=)
|
|
|
NM_206933.4(USH2A):c.1887T>A (p.Gly629=)
|
rs2102606431
|
|
NM_206933.4(USH2A):c.1888G>T (p.Ala630Ser)
|
|
|
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro)
|
rs369806765
|
|
NM_206933.4(USH2A):c.1890A>G (p.Ala630=)
|
rs2102606415
|
|
NM_206933.4(USH2A):c.1891G>A (p.Asp631Asn)
|
rs552400144
|
|
NM_206933.4(USH2A):c.1891G>C (p.Asp631His)
|
rs552400144
|
|
NM_206933.4(USH2A):c.1893T>C (p.Asp631=)
|
rs763507111
|
|
NM_206933.4(USH2A):c.1896T>G (p.Pro632=)
|
|
|
NM_206933.4(USH2A):c.1898C>A (p.Ser633Ter)
|
|
|
NM_206933.4(USH2A):c.1899G>A (p.Ser633=)
|
rs764507682
|
|
NM_206933.4(USH2A):c.1901C>T (p.Ala634Val)
|
|
|
NM_206933.4(USH2A):c.1903A>C (p.Ile635Leu)
|
|
|
NM_206933.4(USH2A):c.1903_1919del (p.Ile635fs)
|
|
|
NM_206933.4(USH2A):c.1909G>A (p.Val637Ile)
|
rs2102606347
|
|
NM_206933.4(USH2A):c.1914del (p.Val637_Cys638insTer)
|
|
|
NM_206933.4(USH2A):c.1921T>A (p.Cys641Ser)
|
|
|
NM_206933.4(USH2A):c.1924G>C (p.Asp642His)
|
rs1363062252
|
|
NM_206933.4(USH2A):c.1927_1934del (p.Cys643fs)
|
|
|
NM_206933.4(USH2A):c.1932T>C (p.Asp644=)
|
|
|
NM_206933.4(USH2A):c.1938T>C (p.Val646=)
|
|
|
NM_206933.4(USH2A):c.1950T>C (p.Asn650=)
|
rs755444399
|
|
NM_206933.4(USH2A):c.195T>C (p.Thr65=)
|
rs781716685
|
|
NM_206933.4(USH2A):c.195T>G (p.Thr65=)
|
|
|
NM_206933.4(USH2A):c.1962T>C (p.Leu654=)
|
rs931180907
|
|
NM_206933.4(USH2A):c.1963T>C (p.Cys655Arg)
|
|
|
NM_206933.4(USH2A):c.1971+11C>A
|
rs2102606186
|
|
NM_206933.4(USH2A):c.1971+17A>G
|
|
|
NM_206933.4(USH2A):c.1971+1G>T
|
rs2036950570
|
|
NM_206933.4(USH2A):c.1971G>C (p.Gln657His)
|
|
|
NM_206933.4(USH2A):c.1972-11A>G
|
|
|
NM_206933.4(USH2A):c.1972-12dup
|
|
|
NM_206933.4(USH2A):c.1972-14_1972-12del
|
|
|
NM_206933.4(USH2A):c.1975G>A (p.Gly659Arg)
|
rs2036153374
|
|
NM_206933.4(USH2A):c.1978G>A (p.Gly660Arg)
|
rs2102552084
|
|
NM_206933.4(USH2A):c.1979G>A (p.Gly660Glu)
|
|
|
NM_206933.4(USH2A):c.1979_1980insGGCTTTAAAAGCAGATGCTGAGAGAACACCTGGGATCTGAGGCTGCCTCAAAAGGCNNNNNNNNNNGCAAGCATCTGACAGCCTGGAACAGAACCCTGCACCCGCGAGTGAGGATCAGACAGCCTGGAGCAGCACCC (p.Gly660_Gln661insAlaLeuLysAlaAspAlaGluArgThrProGlyIleTer)
|
|
|
NM_206933.4(USH2A):c.1980A>G (p.Gly660=)
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|
|
NM_206933.4(USH2A):c.1984_2031dup (p.Cys662_Gln677dup)
|
rs2102551934
|
|
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)
|
rs1487450999
|
|
NM_206933.4(USH2A):c.1986T>C (p.Cys662=)
|
|
|
NM_206933.4(USH2A):c.1989T>C (p.Asn663=)
|
rs2102552064
|
|
NM_206933.4(USH2A):c.1991G>T (p.Cys664Phe)
|
|
|
NM_206933.4(USH2A):c.1995G>C (p.Lys665Asn)
|
rs969622620
|
|
NM_206933.4(USH2A):c.1995_2002dup (p.Val668fs)
|
rs2036151723
|
|
NM_206933.4(USH2A):c.2001C>A (p.His667Gln)
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|
|
NM_206933.4(USH2A):c.2002G>A (p.Val668Met)
|
rs1404273822
|
|
NM_206933.4(USH2A):c.2004G>A (p.Val668=)
|
rs1166026265
|
|
NM_206933.4(USH2A):c.2012G>A (p.Arg671Lys)
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|
|
NM_206933.4(USH2A):c.2013G>A (p.Arg671=)
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|
|
NM_206933.4(USH2A):c.2016G>A (p.Gln672=)
|
rs140897599
|
|
NM_206933.4(USH2A):c.2017T>C (p.Cys673Arg)
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|
|
NM_206933.4(USH2A):c.201T>A (p.Cys67Ter)
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|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter)
|
rs1571623023
|
|
NM_206933.4(USH2A):c.2029C>T (p.Gln677Ter)
|
rs2102551941
|
|
NM_206933.4(USH2A):c.2030A>G (p.Gln677Arg)
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|
|
NM_206933.4(USH2A):c.2035G>T (p.Gly679Ter)
|
rs367693972
|
|
NM_206933.4(USH2A):c.2037A>C (p.Gly679=)
|
rs1571622998
|
|
NM_206933.4(USH2A):c.203A>T (p.His68Leu)
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|
|
NM_206933.4(USH2A):c.2043C>T (p.Tyr681=)
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|
|
NM_206933.4(USH2A):c.2046T>G (p.Asn682Lys)
|
rs767262784
|
|
NM_206933.4(USH2A):c.204C>T (p.His68=)
|
rs1571805581
|
|
NM_206933.4(USH2A):c.2061T>C (p.Asp687=)
|
rs2102551853
|
|
NM_206933.4(USH2A):c.2062C>T (p.Pro688Ser)
|
rs1571622927
|
|
NM_206933.4(USH2A):c.2071T>C (p.Cys691Arg)
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|
|
NM_206933.4(USH2A):c.2072G>C (p.Cys691Ser)
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|
|
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)
|
rs376674482
|
|
NM_206933.4(USH2A):c.2076T>A (p.Ser692Arg)
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|
|
NM_206933.4(USH2A):c.2077C>A (p.Pro693Thr)
|
rs1571622904
|
|
NM_206933.4(USH2A):c.2079C>T (p.Pro693=)
|
rs2102551828
|
|
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser)
|
rs2036149054
|
|
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)
|
rs1352007983
|
|
NM_206933.4(USH2A):c.2094C>G (p.Thr698=)
|
rs141489104
|
|
NM_206933.4(USH2A):c.2099G>A (p.Gly700Glu)
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|
|
NM_206933.4(USH2A):c.2099_2120del (p.Gly700fs)
|
|
|
NM_206933.4(USH2A):c.20C>G (p.Ser7Ter)
|
|
|
NM_206933.4(USH2A):c.2100G>A (p.Gly700=)
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|
|
NM_206933.4(USH2A):c.2102C>G (p.Thr701Arg)
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|
|
NM_206933.4(USH2A):c.2108A>T (p.Asp703Val)
|
rs2036148045
|
|
NM_206933.4(USH2A):c.2114A>G (p.Asp705Gly)
|
|
|
NM_206933.4(USH2A):c.2127C>T (p.His709=)
|
|
|
NM_206933.4(USH2A):c.2135C>T (p.Ser712Leu)
|
rs575411062
|
|
NM_206933.4(USH2A):c.2142G>A (p.Gln714=)
|
|
|
NM_206933.4(USH2A):c.2145dup (p.Lys716fs)
|
|
|
NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser)
|
rs1304016981
|
|
NM_206933.4(USH2A):c.2149T>C (p.Cys717Arg)
|
rs1304016981
|
|
NM_206933.4(USH2A):c.2149T>G (p.Cys717Gly)
|
|
|
NM_206933.4(USH2A):c.2155G>A (p.Ala719Thr)
|
rs1407269297
|
|
NM_206933.4(USH2A):c.2160C>T (p.Asn720=)
|
|
|
NM_206933.4(USH2A):c.2161G>A (p.Val721Ile)
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|
|
NM_206933.4(USH2A):c.2167+10A>G
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|
|
NM_206933.4(USH2A):c.2167+115dup
|
rs570199293
|
|
NM_206933.4(USH2A):c.2167+12G>C
|
|
|
NM_206933.4(USH2A):c.2167+1G>A
|
rs2102551610
|
|
NM_206933.4(USH2A):c.2167+20T>C
|
|
|
NM_206933.4(USH2A):c.2167+20T>G
|
|
|
NM_206933.4(USH2A):c.2167+5G>T
|
|
|
NM_206933.4(USH2A):c.2167+7G>T
|
|
|
NM_206933.4(USH2A):c.2168-11T>C
|
|
|
NM_206933.4(USH2A):c.2168-12T>C
|
|
|
NM_206933.4(USH2A):c.2168-13A>G
|
|
|
NM_206933.4(USH2A):c.2168-15A>G
|
|
|
NM_206933.4(USH2A):c.2168-15A>T
|
|
|
NM_206933.4(USH2A):c.2168-187T>A
|
rs75295533
|
|
NM_206933.4(USH2A):c.2168-187T>C
|
rs75295533
|
|
NM_206933.4(USH2A):c.2168-19A>T
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|
|
NM_206933.4(USH2A):c.2168-20del
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|
|
NM_206933.4(USH2A):c.2168-2A>C
|
rs993185407
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2168-6C>T
|
rs1370448980
|
|
NM_206933.4(USH2A):c.2168-7T>G
|
rs2102546546
|
|
NM_206933.4(USH2A):c.2168-9dup
|
rs1431123329
|
|
NM_206933.4(USH2A):c.2172T>C (p.Leu724=)
|
rs2036070161
|
|
NM_206933.4(USH2A):c.2174G>A (p.Arg725Lys)
|
|
|
NM_206933.4(USH2A):c.2181T>C (p.Asp727=)
|
rs2102546509
|
|
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg)
|
rs2102546492
|
|
NM_206933.4(USH2A):c.2188A>G (p.Asn730Asp)
|
|
|
NM_206933.4(USH2A):c.2194G>T (p.Gly732Ter)
|
|
|
NM_206933.4(USH2A):c.219T>C (p.Ala73=)
|
|
|
NM_206933.4(USH2A):c.2202A>G (p.Lys734=)
|
rs1416725341
|
|
NM_206933.4(USH2A):c.2209C>A (p.Arg737=)
|
|
|
NM_206933.4(USH2A):c.2210G>A (p.Arg737Gln)
|
rs778957703
|
|
NM_206933.4(USH2A):c.2214C>T (p.Ser738=)
|
|
|
NM_206933.4(USH2A):c.2218A>T (p.Asn740Tyr)
|
rs1229489278
|
|
NM_206933.4(USH2A):c.221A>C (p.Glu74Ala)
|
rs774419989
|
|
NM_206933.4(USH2A):c.2223T>G (p.Asp741Glu)
|
rs1487392425
|
|
NM_206933.4(USH2A):c.2225T>C (p.Val742Ala)
|
|
|
NM_206933.4(USH2A):c.2226T>C (p.Val742=)
|
|
|
NM_206933.4(USH2A):c.2228G>C (p.Gly743Ala)
|
rs727504638
|
|
NM_206933.4(USH2A):c.2228_2231del (p.Gly743fs)
|
rs1305146157
|
|
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)
|
rs751035557
|
|
NM_206933.4(USH2A):c.2232T>A (p.Cys744Ter)
|
|
|
NM_206933.4(USH2A):c.2236C>G (p.Pro746Ala)
|
rs2036068018
|
|
NM_206933.4(USH2A):c.2237C>T (p.Pro746Leu)
|
rs2036067969
|
|
NM_206933.4(USH2A):c.2238C>A (p.Pro746=)
|
|
|
NM_206933.4(USH2A):c.2238C>T (p.Pro746=)
|
rs2102546323
|
|
NM_206933.4(USH2A):c.2241C>T (p.Cys747=)
|
rs2102546321
|
|
NM_206933.4(USH2A):c.2242C>A (p.Gln748Lys)
|
rs897424186
|
|
NM_206933.4(USH2A):c.2245T>C (p.Cys749Arg)
|
|
|
NM_206933.4(USH2A):c.224G>A (p.Ser75Asn)
|
|
|
NM_206933.4(USH2A):c.2251del (p.Leu751fs)
|
|
|
NM_206933.4(USH2A):c.2253C>T (p.Leu751=)
|
rs768068465
|
|
NM_206933.4(USH2A):c.2258G>A (p.Gly753Asp)
|
|
|
NM_206933.4(USH2A):c.225T>C (p.Ser75=)
|
rs762955854
|
|
NM_206933.4(USH2A):c.2261C>T (p.Ser754Leu)
|
|
|
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
|
|
|
NM_206933.4(USH2A):c.2293C>G (p.Gln765Glu)
|
rs777629750
|
|
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)
|
rs777629750
|
|
NM_206933.4(USH2A):c.2296T>A (p.Cys766Ser)
|
|
|
NM_206933.4(USH2A):c.2297G>A (p.Cys766Tyr)
|
rs2036066367
|
|
NM_206933.4(USH2A):c.22T>A (p.Leu8Met)
|
|
|
NM_206933.4(USH2A):c.2301del (p.Glu767fs)
|
|
|
NM_206933.4(USH2A):c.2302T>A (p.Cys768Ser)
|
|
|
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
|
|
|
NM_206933.4(USH2A):c.2303del (p.Cys768fs)
|
rs2102546166
|
|
NM_206933.4(USH2A):c.233del (p.Phe78fs)
|
|
|
NM_206933.4(USH2A):c.235T>C (p.Cys79Arg)
|
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.240C>G (p.Thr80=)
|
|
|
NM_206933.4(USH2A):c.242dup (p.Arg82fs)
|
rs2102788764
|
|
NM_206933.4(USH2A):c.244C>A (p.Arg82=)
|
|
|
NM_206933.4(USH2A):c.246G>A (p.Arg82=)
|
|
|
NM_206933.4(USH2A):c.249T>C (p.Phe83=)
|
|
|
NM_206933.4(USH2A):c.251G>A (p.Cys84Tyr)
|
rs1247310031
|
|
NM_206933.4(USH2A):c.252T>G (p.Cys84Trp)
|
|
|
NM_206933.4(USH2A):c.253A>G (p.Ile85Val)
|
rs770983063
|
|
NM_206933.4(USH2A):c.253A>T (p.Ile85Phe)
|
|
|
NM_206933.4(USH2A):c.258G>A (p.Gln86=)
|
|
|
NM_206933.4(USH2A):c.261T>C (p.Asp87=)
|
|
|
NM_206933.4(USH2A):c.262T>A (p.Cys88Ser)
|
rs2102788720
|
|
NM_206933.4(USH2A):c.264C>A (p.Cys88Ter)
|
rs368798834
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.264C>T (p.Cys88=)
|
|
|
NM_206933.4(USH2A):c.265C>T (p.Pro89Ser)
|
|
|
NM_206933.4(USH2A):c.267A>C (p.Pro89=)
|
|
|
NM_206933.4(USH2A):c.269A>G (p.Tyr90Cys)
|
rs755435330
|
|
NM_206933.4(USH2A):c.271A>T (p.Arg91Ter)
|
|
|
NM_206933.4(USH2A):c.27C>T (p.Gly9=)
|
|
|
NM_206933.4(USH2A):c.2810-19T>C
|
|
|
NM_206933.4(USH2A):c.2810-19_2810-18del
|
|
|
NM_206933.4(USH2A):c.2810-4C>T
|
|
|
NM_206933.4(USH2A):c.2810-7T>C
|
|
|
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val)
|
rs1572074313
|
|
NM_206933.4(USH2A):c.2811T>C (p.Gly937=)
|
rs894683155
|
|
NM_206933.4(USH2A):c.2815del (p.Tyr939fs)
|
rs1572074292
|
|
NM_206933.4(USH2A):c.2821T>G (p.Ser941Ala)
|
|
|
NM_206933.4(USH2A):c.2829C>A (p.Gly943=)
|
rs397518007
|
|
NM_206933.4(USH2A):c.2832T>C (p.Asn944=)
|
|
|
NM_206933.4(USH2A):c.2835C>T (p.Ala945=)
|
rs1311224729
|
|
NM_206933.4(USH2A):c.283C>A (p.Pro95Thr)
|
|
|
NM_206933.4(USH2A):c.2840G>A (p.Gly947Asp)
|
|
|
NM_206933.4(USH2A):c.2841C>A (p.Gly947=)
|
|
|
NM_206933.4(USH2A):c.2845C>T (p.Leu949=)
|
rs1416215303
|
|
NM_206933.4(USH2A):c.2846_2849dup (p.Cys951fs)
|
|
|
NM_206933.4(USH2A):c.2847G>A (p.Leu949=)
|
|
|
NM_206933.4(USH2A):c.2848C>T (p.Pro950Ser)
|
rs552925338
|
|
NM_206933.4(USH2A):c.2850A>T (p.Pro950=)
|
|
|
NM_206933.4(USH2A):c.2853C>A (p.Cys951Ter)
|
rs755849157
|
|
NM_206933.4(USH2A):c.2856A>G (p.Ser952=)
|
|
|
NM_206933.4(USH2A):c.2857T>C (p.Cys953Arg)
|
rs762059922
|
|
NM_206933.4(USH2A):c.2859C>A (p.Cys953Ter)
|
|
|
NM_206933.4(USH2A):c.2861A>G (p.His954Arg)
|
|
|
NM_206933.4(USH2A):c.2862T>C (p.His954=)
|
|
|
NM_206933.4(USH2A):c.2864C>A (p.Thr955Lys)
|
|
|
NM_206933.4(USH2A):c.2865A>C (p.Thr955=)
|
|
|
NM_206933.4(USH2A):c.2865A>G (p.Thr955=)
|
rs945082281
|
|
NM_206933.4(USH2A):c.2867C>G (p.Thr956Ser)
|
|
|
NM_206933.4(USH2A):c.2867C>T (p.Thr956Ile)
|
rs2035707966
|
|
NM_206933.4(USH2A):c.2869G>A (p.Gly957Ser)
|
|
|
NM_206933.4(USH2A):c.2878_2879del (p.Asn960fs)
|
rs2102522326
|
|
NM_206933.4(USH2A):c.2879A>G (p.Asn960Ser)
|
|
|
NM_206933.4(USH2A):c.2880T>C (p.Asn960=)
|
rs151177516
|
|
NM_206933.4(USH2A):c.2882A>C (p.His961Pro)
|
rs1263825299
|
|
NM_206933.4(USH2A):c.2888G>A (p.Cys963Tyr)
|
|
|
NM_206933.4(USH2A):c.2888G>T (p.Cys963Phe)
|
|
|
NM_206933.4(USH2A):c.288C>G (p.Thr96=)
|
|
|
NM_206933.4(USH2A):c.2896C>T (p.Leu966=)
|
rs1226972740
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.2915G>T (p.Cys972Phe)
|
|
|
NM_206933.4(USH2A):c.2916C>T (p.Cys972=)
|
|
|
NM_206933.4(USH2A):c.2920G>A (p.Asp974Asn)
|
rs540564733
|
|
NM_206933.4(USH2A):c.2924C>T (p.Ala975Val)
|
|
|
NM_206933.4(USH2A):c.2925T>C (p.Ala975=)
|
rs2102522198
|
|
NM_206933.4(USH2A):c.292dup (p.Thr98fs)
|
rs2102788650
|
|
NM_206933.4(USH2A):c.2937G>A (p.Gly979=)
|
|
|
NM_206933.4(USH2A):c.2940A>G (p.Gln980=)
|
|
|
NM_206933.4(USH2A):c.2941C>T (p.Arg981Cys)
|
|
|
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
|
|
|
NM_206933.4(USH2A):c.2942G>C (p.Arg981Pro)
|
|
|
NM_206933.4(USH2A):c.2943T>C (p.Arg981=)
|
rs2102522159
|
|
NM_206933.4(USH2A):c.2945G>A (p.Cys982Tyr)
|
rs2102522146
|
|
NM_206933.4(USH2A):c.2949C>T (p.Asp983=)
|
rs2035705643
|
|
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg)
|
rs1171264735
|
|
NM_206933.4(USH2A):c.295G>A (p.Ala99Thr)
|
rs2039686454
|
|
NM_206933.4(USH2A):c.2961C>T (p.Asp987=)
|
|
|
NM_206933.4(USH2A):c.2965dup (p.Tyr989fs)
|
|
|
NM_206933.4(USH2A):c.2966A>G (p.Tyr989Cys)
|
|
|
NM_206933.4(USH2A):c.2967C>G (p.Tyr989Ter)
|
|
|
NM_206933.4(USH2A):c.297C>G (p.Ala99=)
|
rs2102788639
|
|
NM_206933.4(USH2A):c.2982T>A (p.Pro994=)
|
|
|
NM_206933.4(USH2A):c.2992A>G (p.Arg998Gly)
|
rs794727135
|
|
NM_206933.4(USH2A):c.2993+15G>A
|
rs751793874
|
|
NM_206933.4(USH2A):c.2993+16C>T
|
|
|
NM_206933.4(USH2A):c.2993+17T>A
|
|
|
NM_206933.4(USH2A):c.2993+1G>A
|
|
|
NM_206933.4(USH2A):c.2993+20A>C
|
|
|
NM_206933.4(USH2A):c.2993+3A>G
|
|
|
NM_206933.4(USH2A):c.2993+8T>A
|
|
|
NM_206933.4(USH2A):c.2993+94dup
|
rs142795742
|
|
NM_206933.4(USH2A):c.2993+9T>G
|
rs1255462185
|
|
NM_206933.4(USH2A):c.2994-10T>G
|
rs748702655
|
|
NM_206933.4(USH2A):c.2994-12C>A
|
rs2035367604
|
|
NM_206933.4(USH2A):c.2994-12C>T
|
|
|
NM_206933.4(USH2A):c.2994-16T>C
|
|
|
NM_206933.4(USH2A):c.2994-17A>G
|
|
|
NM_206933.4(USH2A):c.2994-17_2994-4del
|
|
|
NM_206933.4(USH2A):c.2994-1G>A
|
|
|
NM_206933.4(USH2A):c.2994-200del
|
rs112536267
|
|
NM_206933.4(USH2A):c.2994-4del
|
rs2102496520
|
|
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe)
|
rs2102496508
|
|
NM_206933.4(USH2A):c.2999A>C (p.Gln1000Pro)
|
rs1486615749
|
|
NM_206933.4(USH2A):c.299T>C (p.Leu100Pro)
|
rs1558082163
|
|
NM_206933.4(USH2A):c.3000G>A (p.Gln1000=)
|
|
|
NM_206933.4(USH2A):c.3002C>G (p.Pro1001Arg)
|
|
|
NM_206933.4(USH2A):c.3004del (p.Cys1002fs)
|
rs1572060089
|
|
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser)
|
rs2035366945
|
|
NM_206933.4(USH2A):c.3009T>C (p.Asn1003=)
|
rs2035366877
|
|
NM_206933.4(USH2A):c.300T>A (p.Leu100=)
|
|
|
NM_206933.4(USH2A):c.3011G>T (p.Cys1004Phe)
|
|
|
NM_206933.4(USH2A):c.3012T>C (p.Cys1004=)
|
|
|
NM_206933.4(USH2A):c.3015del (p.Leu1006fs)
|
|
|
NM_206933.4(USH2A):c.3017T>C (p.Leu1006Pro)
|
|
|
NM_206933.4(USH2A):c.3019T>A (p.Ser1007Thr)
|
|
|
NM_206933.4(USH2A):c.3021A>G (p.Ser1007=)
|
|
|
NM_206933.4(USH2A):c.3025G>T (p.Ala1009Ser)
|
|
|
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp)
|
rs150729680
|
|
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
|
|
|
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)
|
rs150729680
|
|
NM_206933.4(USH2A):c.302dup (p.Ser102fs)
|
|
|
NM_206933.4(USH2A):c.3030G>A (p.Leu1010=)
|
|
|
NM_206933.4(USH2A):c.3039C>T (p.Thr1013=)
|
rs765472781
|
|
NM_206933.4(USH2A):c.3039del (p.Cys1014fs)
|
|
|
NM_206933.4(USH2A):c.3045C>T (p.His1015=)
|
|
|
NM_206933.4(USH2A):c.3051C>G (p.Val1017=)
|
|
|
NM_206933.4(USH2A):c.3052A>C (p.Thr1018Pro)
|
rs2102496402
|
|
NM_206933.4(USH2A):c.3055G>C (p.Gly1019Arg)
|
rs1485822127
|
|
NM_206933.4(USH2A):c.3060G>A (p.Gln1020=)
|
rs773660780
|
|
NM_206933.4(USH2A):c.3063T>C (p.Cys1021=)
|
rs1572059971
|
|
NM_206933.4(USH2A):c.3073C>T (p.Gln1025Ter)
|
|
|
NM_206933.4(USH2A):c.3075A>G (p.Gln1025=)
|
|
|
NM_206933.4(USH2A):c.3086del (p.Gly1029fs)
|
rs886044060
|
|
NM_206933.4(USH2A):c.3090A>T (p.Ser1030=)
|
rs1270707790
|
|
NM_206933.4(USH2A):c.3093G>A (p.Lys1031=)
|
rs2102496338
|
|
NM_206933.4(USH2A):c.3095G>A (p.Cys1032Tyr)
|
rs762711963
|
|
NM_206933.4(USH2A):c.3096T>A (p.Cys1032Ter)
|
rs2102496332
|
|
NM_206933.4(USH2A):c.3098A>G (p.Asp1033Gly)
|
rs2102496329
|
|
NM_206933.4(USH2A):c.309A>G (p.Ala103=)
|
rs150858753
|
|
NM_206933.4(USH2A):c.30T>C (p.Ser10=)
|
|
|
NM_206933.4(USH2A):c.3102T>C (p.Ala1034=)
|
rs2102496321
|
|
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser)
|
rs1396798963
|
|
NM_206933.4(USH2A):c.3117A>C (p.Ala1039=)
|
rs573554587
|
|
NM_206933.4(USH2A):c.3117A>G (p.Ala1039=)
|
|
|
NM_206933.4(USH2A):c.3123C>T (p.His1041=)
|
|
|
NM_206933.4(USH2A):c.312C>A (p.Gly104=)
|
rs2039686040
|
|
NM_206933.4(USH2A):c.3131T>A (p.Val1044Asp)
|
rs2102496261
|
|
NM_206933.4(USH2A):c.3138T>C (p.Asn1046=)
|
rs781049260
|
|
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del)
|
rs1396847135
|
|
NM_206933.4(USH2A):c.3141A>G (p.Leu1047=)
|
|
|
NM_206933.4(USH2A):c.3141A>T (p.Leu1047=)
|
|
|
NM_206933.4(USH2A):c.3142T>C (p.Leu1048=)
|
rs191367846
|
|
NM_206933.4(USH2A):c.3147T>C (p.Gly1049=)
|
|
|
NM_206933.4(USH2A):c.3157+10C>T
|
rs758538008
|
|
NM_206933.4(USH2A):c.3157+13T>C
|
|
|
NM_206933.4(USH2A):c.3157+15G>A
|
|
|
NM_206933.4(USH2A):c.3157+17T>C
|
|
|
NM_206933.4(USH2A):c.3157+1G>A
|
|
|
NM_206933.4(USH2A):c.3157+3_3157+5delinsTAA
|
|
|
NM_206933.4(USH2A):c.3157+5G>A
|
rs777673655
|
|
NM_206933.4(USH2A):c.3157del (p.Thr1053fs)
|
|
|
NM_206933.4(USH2A):c.3158-12A>G
|
rs2102481105
|
|
NM_206933.4(USH2A):c.3158-12A>T
|
|
|
NM_206933.4(USH2A):c.3158-14T>G
|
rs1266075316
|
|
NM_206933.4(USH2A):c.3158-1G>A
|
rs1231186035
|
|
NM_206933.4(USH2A):c.3158-283del
|
rs33954636
|
|
NM_206933.4(USH2A):c.3158-284_3158-283del
|
rs33954636
|
|
NM_206933.4(USH2A):c.3158-300dup
|
rs33954636
|
|
NM_206933.4(USH2A):c.3158-8T>C
|
rs368332804
|
|
NM_206933.4(USH2A):c.3158-8_3158-3del
|
rs2102481081
|
|
NM_206933.4(USH2A):c.3159T>A (p.Thr1053=)
|
|
|
NM_206933.4(USH2A):c.315C>T (p.Leu105=)
|
rs2102788589
|
|
NM_206933.4(USH2A):c.3162A>G (p.Pro1054=)
|
rs2102481056
|
|
NM_206933.4(USH2A):c.3166C>T (p.Gln1056Ter)
|
|
|
NM_206933.4(USH2A):c.3169C>G (p.Gln1057Glu)
|
rs1558317549
|
|
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg)
|
rs111033377
|
|
NM_206933.4(USH2A):c.3172C>A (p.Pro1058Thr)
|
|
|
NM_206933.4(USH2A):c.3177G>T (p.Pro1059=)
|
rs767648070
|
|
NM_206933.4(USH2A):c.3183A>G (p.Arg1061=)
|
rs2102481014
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3189A>C (p.Gln1063His)
|
rs1369422361
|
|
NM_206933.4(USH2A):c.3192T>A (p.Val1064=)
|
|
|
NM_206933.4(USH2A):c.3196dup (p.Ser1066fs)
|
|
|
NM_206933.4(USH2A):c.3201T>C (p.Ser1067=)
|
|
|
NM_206933.4(USH2A):c.3219C>T (p.Ser1073=)
|
|
|
NM_206933.4(USH2A):c.321C>T (p.Ser107=)
|
|
|
NM_206933.4(USH2A):c.3220T>C (p.Trp1074Arg)
|
rs1344390541
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
NM_206933.4(USH2A):c.3224_3225dup (p.Pro1076fs)
|
rs1572051012
|
|
NM_206933.4(USH2A):c.3228A>G (p.Pro1076=)
|
|
|
NM_206933.4(USH2A):c.3245C>T (p.Ala1082Val)
|
rs2102480859
|
|
NM_206933.4(USH2A):c.3251G>A (p.Trp1084Ter)
|
rs1363689100
|
|
NM_206933.4(USH2A):c.3252G>A (p.Trp1084Ter)
|
|
|
NM_206933.4(USH2A):c.3258T>C (p.Thr1086=)
|
rs2102480821
|
|
NM_206933.4(USH2A):c.3266del (p.Leu1089fs)
|
rs2102480814
|
|
NM_206933.4(USH2A):c.3270C>A (p.Leu1090=)
|
|
|
NM_206933.4(USH2A):c.3276T>C (p.Asp1092=)
|
|
|
NM_206933.4(USH2A):c.3294A>G (p.Thr1098=)
|
rs2102480761
|
|
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)
|
rs748369458
|
|
NM_206933.4(USH2A):c.3299dup (p.Asp1101fs)
|
|
|
NM_206933.4(USH2A):c.3300G>A (p.Glu1100=)
|
|
|
NM_206933.4(USH2A):c.3301G>T (p.Asp1101Tyr)
|
rs993134836
|
|
NM_206933.4(USH2A):c.3306A>G (p.Gln1102=)
|
|
|
NM_206933.4(USH2A):c.3308A>T (p.Tyr1103Phe)
|
rs2102480705
|
|
NM_206933.4(USH2A):c.330A>G (p.Thr110=)
|
rs528904824
|
|
NM_206933.4(USH2A):c.330A>T (p.Thr110=)
|
|
|
NM_206933.4(USH2A):c.3311C>G (p.Pro1104Arg)
|
rs778168432
|
|
NM_206933.4(USH2A):c.3316+11G>C
|
|
|
NM_206933.4(USH2A):c.3316+13G>T
|
|
|
NM_206933.4(USH2A):c.3316+14T>C
|
|
|
NM_206933.4(USH2A):c.3316+17G>A
|
|
|
NM_206933.4(USH2A):c.3316+18G>A
|
|
|
NM_206933.4(USH2A):c.3316+20A>G
|
|
|
NM_206933.4(USH2A):c.3316+6T>C
|
rs373631038
|
|
NM_206933.4(USH2A):c.3316+7T>A
|
|
|
NM_206933.4(USH2A):c.3316+9A>G
|
|
|
NM_206933.4(USH2A):c.3316+9A>T
|
rs2102480629
|
|
NM_206933.4(USH2A):c.3316+9_3316+16del
|
|
|
NM_206933.4(USH2A):c.3317-10T>C
|
|
|
NM_206933.4(USH2A):c.3317-12dup
|
rs774403089
|
|
NM_206933.4(USH2A):c.3317-14T>C
|
|
|
NM_206933.4(USH2A):c.3317-14del
|
rs376363548
|
|
NM_206933.4(USH2A):c.3317-16_3317-14del
|
|
|
NM_206933.4(USH2A):c.3317-17_3317-14del
|
rs376363548
|
|
NM_206933.4(USH2A):c.3317-18T>C
|
|
|
NM_206933.4(USH2A):c.3317-19T>C
|
|
|
NM_206933.4(USH2A):c.3317-1G>A
|
rs1553313909
|
|
NM_206933.4(USH2A):c.3317-20T>A
|
|
|
NM_206933.4(USH2A):c.3317-25dup
|
rs376363548
|
|
NM_206933.4(USH2A):c.3317-2A>C
|
|
|
NM_206933.4(USH2A):c.3317-4T>A
|
|
|
NM_206933.4(USH2A):c.3317-5T>C
|
|
|
NM_206933.4(USH2A):c.3317-7A>C
|
|
|
NM_206933.4(USH2A):c.3317-9T>C
|
rs2102467615
|
|
NM_206933.4(USH2A):c.3318T>C (p.Ser1106=)
|
|
|
NM_206933.4(USH2A):c.3321T>C (p.Ile1107=)
|
|
|
NM_206933.4(USH2A):c.3324A>G (p.Gln1108=)
|
|
|
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter)
|
rs758705873
|
|
NM_206933.4(USH2A):c.3328T>A (p.Phe1110Ile)
|
|
|
NM_206933.4(USH2A):c.3344T>C (p.Leu1115Pro)
|
rs151122789
|
|
NM_206933.4(USH2A):c.3344T>G (p.Leu1115Arg)
|
|
|
NM_206933.4(USH2A):c.3347T>G (p.Leu1116Ter)
|
|
|
NM_206933.4(USH2A):c.3354T>C (p.Tyr1118=)
|
rs766989279
|
|
NM_206933.4(USH2A):c.3366C>G (p.Ser1122=)
|
|
|
NM_206933.4(USH2A):c.336C>G (p.Asp112Glu)
|
|
|
NM_206933.4(USH2A):c.3371A>G (p.Tyr1124Cys)
|
|
|
NM_206933.4(USH2A):c.3372C>T (p.Tyr1124=)
|
rs2102467436
|
|
NM_206933.4(USH2A):c.3372_3373del (p.Tyr1124_Ile1125insTer)
|
rs2034949292
|
|
NM_206933.4(USH2A):c.3375T>A (p.Ile1125=)
|
|
|
NM_206933.4(USH2A):c.3381C>T (p.Thr1127=)
|
rs2102467387
|
|
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
|
rs2034948574
|
|
NM_206933.4(USH2A):c.3384C>T (p.Thr1128=)
|
rs2102467380
|
|
NM_206933.4(USH2A):c.3384_3417del (p.Asn1129fs)
|
rs1572042851
|
|
NM_206933.4(USH2A):c.3387T>C (p.Asn1129=)
|
rs770929980
|
|
NM_206933.4(USH2A):c.3389T>G (p.Val1130Gly)
|
|
|
NM_206933.4(USH2A):c.3390G>A (p.Val1130=)
|
rs778202718
|
|
NM_206933.4(USH2A):c.3395del (p.Gly1132fs)
|
|
|
NM_206933.4(USH2A):c.3396T>C (p.Gly1132=)
|
rs2102467341
|
|
NM_206933.4(USH2A):c.3402A>T (p.Thr1134=)
|
|
|
NM_206933.4(USH2A):c.3403A>G (p.Arg1135Gly)
|
rs2034947949
|
|
NM_206933.4(USH2A):c.3405G>A (p.Arg1135=)
|
rs372843685
|
|
NM_206933.4(USH2A):c.3406A>G (p.Ser1136Gly)
|
rs2034947671
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.3409G>A (p.Val1137Ile)
|
rs914071757
|
|
NM_206933.4(USH2A):c.3417C>A (p.Val1139=)
|
|
|
NM_206933.4(USH2A):c.3417C>G (p.Val1139=)
|
|
|
NM_206933.4(USH2A):c.3420_3423del (p.Tyr1141fs)
|
|
|
NM_206933.4(USH2A):c.3423C>T (p.Tyr1141=)
|
|
|
NM_206933.4(USH2A):c.3426G>A (p.Lys1142=)
|
|
|
NM_206933.4(USH2A):c.3428C>A (p.Thr1143Lys)
|
|
|
NM_206933.4(USH2A):c.342T>C (p.Asn114=)
|
|
|
NM_206933.4(USH2A):c.3433C>T (p.Pro1145Ser)
|
|
|
NM_206933.4(USH2A):c.3435A>G (p.Pro1145=)
|
|
|
NM_206933.4(USH2A):c.3435del (p.Val1147fs)
|
rs397518012
|
|
NM_206933.4(USH2A):c.343G>C (p.Asp115His)
|
|
|
NM_206933.4(USH2A):c.3453C>T (p.Asn1151=)
|
rs776659049
|
|
NM_206933.4(USH2A):c.3454T>C (p.Leu1152=)
|
rs2102467185
|
|
NM_206933.4(USH2A):c.3454_3455del (p.Leu1152fs)
|
|
|
NM_206933.4(USH2A):c.3455T>A (p.Leu1152Ter)
|
rs2034946086
|
|
NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser)
|
rs1064797137
|
|
NM_206933.4(USH2A):c.3461del (p.Thr1153_Leu1154insTer)
|
|
|
NM_206933.4(USH2A):c.3464G>A (p.Ser1155Asn)
|
rs760702994
|
|
NM_206933.4(USH2A):c.3468T>C (p.Tyr1156=)
|
|
|
NM_206933.4(USH2A):c.3469A>C (p.Ile1157Leu)
|
rs773317776
|
|
NM_206933.4(USH2A):c.3470T>A (p.Ile1157Asn)
|
|
|
NM_206933.4(USH2A):c.3478A>G (p.Ile1160Val)
|
|
|
NM_206933.4(USH2A):c.3486dup (p.Asp1163fs)
|
|
|
NM_206933.4(USH2A):c.3493del (p.Ser1164_Val1165insTer)
|
rs2034944843
|
|
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs)
|
rs1553313844
|
|
NM_206933.4(USH2A):c.3495G>A (p.Val1165=)
|
|
|
NM_206933.4(USH2A):c.349C>A (p.His117Asn)
|
rs372053865
|
|
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
|
|
|
NM_206933.4(USH2A):c.3506G>A (p.Trp1169Ter)
|
rs2102467034
|
|
NM_206933.4(USH2A):c.3507G>C (p.Trp1169Cys)
|
|
|
NM_206933.4(USH2A):c.3529G>C (p.Gly1177Arg)
|
|
|
NM_206933.4(USH2A):c.352C>A (p.Pro118Thr)
|
|
|
NM_206933.4(USH2A):c.3532C>A (p.Pro1178Thr)
|
rs372081834
|
|
NM_206933.4(USH2A):c.3534C>T (p.Pro1178=)
|
|
|
NM_206933.4(USH2A):c.3536T>C (p.Ile1179Thr)
|
rs560279665
|
|
NM_206933.4(USH2A):c.3538G>T (p.Glu1180Ter)
|
|
|
NM_206933.4(USH2A):c.353C>T (p.Pro118Leu)
|
rs2039684908
|
|
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)
|
rs762167370
|
|
NM_206933.4(USH2A):c.3546T>C (p.Tyr1182=)
|
rs762167370
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
NM_206933.4(USH2A):c.354T>A (p.Pro118=)
|
|
|
NM_206933.4(USH2A):c.3553T>C (p.Ser1185Pro)
|
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
NM_206933.4(USH2A):c.3565T>C (p.Leu1189=)
|
|
|
NM_206933.4(USH2A):c.3567G>A (p.Leu1189=)
|
|
|
NM_206933.4(USH2A):c.357C>A (p.Asn119Lys)
|
rs562750831
|
|
NM_206933.4(USH2A):c.3582A>G (p.Pro1194=)
|
|
|
NM_206933.4(USH2A):c.3583T>C (p.Cys1195Arg)
|
rs2034942169
|
|
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)
|
rs1553313810
|
|
NM_206933.4(USH2A):c.3595G>A (p.Glu1199Lys)
|
|
|
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
|
rs1294733964
|
|
NM_206933.4(USH2A):c.359C>G (p.Ala120Gly)
|
|
|
NM_206933.4(USH2A):c.3600T>A (p.Gly1200=)
|
|
|
NM_206933.4(USH2A):c.3603T>C (p.His1201=)
|
rs2102466770
|
|
NM_206933.4(USH2A):c.3604G>T (p.Glu1202Ter)
|
rs2034941445
|
|
NM_206933.4(USH2A):c.3609C>T (p.Thr1203=)
|
rs2102466762
|
|
NM_206933.4(USH2A):c.3611del (p.Thr1203_Ser1204insTer)
|
|
|
NM_206933.4(USH2A):c.361C>T (p.His121Tyr)
|
rs2102788499
|
|
NM_206933.4(USH2A):c.3620T>A (p.Ile1207Asn)
|
rs2102466754
|
|
NM_206933.4(USH2A):c.3639dup (p.Ala1214fs)
|
|
|
NM_206933.4(USH2A):c.3640G>A (p.Ala1214Thr)
|
|
|
NM_206933.4(USH2A):c.3648C>A (p.Tyr1216Ter)
|
|
|
NM_206933.4(USH2A):c.3654T>C (p.Phe1218=)
|
|
|
NM_206933.4(USH2A):c.3655T>C (p.Ser1219Pro)
|
|
|
NM_206933.4(USH2A):c.3657T>A (p.Ser1219=)
|
|
|
NM_206933.4(USH2A):c.3660A>G (p.Val1220=)
|
rs2034940102
|
|
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)
|
rs767797828
|
|
NM_206933.4(USH2A):c.3667T>C (p.Cys1223Arg)
|
|
|
NM_206933.4(USH2A):c.366C>A (p.Ser122Arg)
|
|
|
NM_206933.4(USH2A):c.3672T>C (p.Thr1224=)
|
rs1572042343
|
|
NM_206933.4(USH2A):c.3676G>A (p.Gly1226Arg)
|
|
|
NM_206933.4(USH2A):c.3676G>T (p.Gly1226Trp)
|
rs770349057
|
|
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=)
|
rs376090043
|
|
NM_206933.4(USH2A):c.3678G>C (p.Gly1226=)
|
rs376090043
|
|
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
|
|
|
NM_206933.4(USH2A):c.3680del (p.Gly1227fs)
|
|
|
NM_206933.4(USH2A):c.3684T>A (p.Cys1228Ter)
|
rs2102466516
|
|
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
|
rs2034938852
|
|
NM_206933.4(USH2A):c.3687A>G (p.Leu1229=)
|
rs2102466499
|
|
NM_206933.4(USH2A):c.3696G>T (p.Leu1232Phe)
|
|
|
NM_206933.4(USH2A):c.3698C>G (p.Pro1233Arg)
|
rs2102466478
|
|
NM_206933.4(USH2A):c.3699del (p.Ile1234fs)
|
rs2034938612
|
|
NM_206933.4(USH2A):c.3705A>C (p.Thr1235=)
|
rs2034938462
|
|
NM_206933.4(USH2A):c.3705A>G (p.Thr1235=)
|
rs2034938462
|
|
NM_206933.4(USH2A):c.370dup (p.Ser124fs)
|
|
|
NM_206933.4(USH2A):c.3713C>G (p.Thr1238Arg)
|
rs768461447
|
|
NM_206933.4(USH2A):c.3715G>A (p.Ala1239Thr)
|
rs373698501
|
|
NM_206933.4(USH2A):c.3717C>G (p.Ala1239=)
|
rs2102466425
|
|
NM_206933.4(USH2A):c.3718C>A (p.Gln1240Lys)
|
|
|
NM_206933.4(USH2A):c.3722_3729delinsTCA (p.Ala1241fs)
|
rs2102466384
|
|
NM_206933.4(USH2A):c.3723C>A (p.Ala1241=)
|
|
|
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser)
|
rs755849364
|
|
NM_206933.4(USH2A):c.3729C>G (p.Pro1243=)
|
rs1277398294
|
|
NM_206933.4(USH2A):c.372T>C (p.Ser124=)
|
|
|
NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)
|
|
|
NM_206933.4(USH2A):c.3736C>G (p.Leu1246Val)
|
|
|
NM_206933.4(USH2A):c.3736C>T (p.Leu1246=)
|
|
|
NM_206933.4(USH2A):c.3737T>G (p.Leu1246Arg)
|
|
|
NM_206933.4(USH2A):c.3737dup (p.Ser1247fs)
|
rs2034937352
|
|
NM_206933.4(USH2A):c.3738A>G (p.Leu1246=)
|
|
|
NM_206933.4(USH2A):c.3742_3743dup (p.Pro1249fs)
|
rs2102466345
|
|
NM_206933.4(USH2A):c.3746C>T (p.Pro1249Leu)
|
|
|
NM_206933.4(USH2A):c.3747T>C (p.Pro1249=)
|
rs1331452710
|
|
NM_206933.4(USH2A):c.3748A>G (p.Lys1250Glu)
|
|
|
NM_206933.4(USH2A):c.3750G>A (p.Lys1250=)
|
|
|
NM_206933.4(USH2A):c.3752T>C (p.Met1251Thr)
|
|
|
NM_206933.4(USH2A):c.3755A>G (p.Gln1252Arg)
|
rs2034936624
|
|
NM_206933.4(USH2A):c.3764G>T (p.Ser1255Ile)
|
rs753188233
|
|
NM_206933.4(USH2A):c.3768T>C (p.Ser1256=)
|
rs2102466248
|
|
NM_206933.4(USH2A):c.3781_3782del (p.Val1261fs)
|
|
|
NM_206933.4(USH2A):c.3783A>G (p.Val1261=)
|
rs200698585
|
|
NM_206933.4(USH2A):c.3788G>A (p.Trp1263Ter)
|
rs1572042090
|
|
NM_206933.4(USH2A):c.3794C>T (p.Pro1265Leu)
|
|
|
NM_206933.4(USH2A):c.3795A>T (p.Pro1265=)
|
|
|
NM_206933.4(USH2A):c.3801G>T (p.Ala1267=)
|
rs537863698
|
|
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)
|
|
|
NM_206933.4(USH2A):c.3809del (p.Asn1270fs)
|
|
|
NM_206933.4(USH2A):c.3811+10C>G
|
|
|
NM_206933.4(USH2A):c.3811+13G>C
|
|
|
NM_206933.4(USH2A):c.3811+15C>G
|
|
|
NM_206933.4(USH2A):c.3811+19G>T
|
rs951694532
|
|
NM_206933.4(USH2A):c.3811+19_3811+20del
|
|
|
NM_206933.4(USH2A):c.3811+1G>T
|
|
|
NM_206933.4(USH2A):c.3811+9C>T
|
rs1572042020
|
|
NM_206933.4(USH2A):c.3812-12T>G
|
|
|
NM_206933.4(USH2A):c.3812-14T>C
|
|
|
NM_206933.4(USH2A):c.3812-14_3812-11del
|
|
|
NM_206933.4(USH2A):c.3812-15A>G
|
|
|
NM_206933.4(USH2A):c.3812-16T>C
|
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
NM_206933.4(USH2A):c.3812-4C>G
|
rs778015761
|
|
NM_206933.4(USH2A):c.3812-6C>T
|
|
|
NM_206933.4(USH2A):c.3812-7T>C
|
rs2102464492
|
|
NM_206933.4(USH2A):c.3812-8T>A
|
|
|
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
|
|
|
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter)
|
rs2034908815
|
|
NM_206933.4(USH2A):c.3831A>G (p.Glu1277=)
|
|
|
NM_206933.4(USH2A):c.3836A>G (p.Tyr1279Cys)
|
|
|
NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer)
|
|
|
NM_206933.4(USH2A):c.3840G>A (p.Met1280Ile)
|
|
|
NM_206933.4(USH2A):c.3840_3841delinsCT (p.Met1280_Arg1281delinsIleTer)
|
rs2102464408
|
|
NM_206933.4(USH2A):c.3847C>T (p.Leu1283=)
|
|
|
NM_206933.4(USH2A):c.384T>C (p.Ile128=)
|
rs2102788419
|
|
NM_206933.4(USH2A):c.3850A>C (p.Arg1284=)
|
|
|
NM_206933.4(USH2A):c.3850del (p.Arg1284fs)
|
rs2102464376
|
|
NM_206933.4(USH2A):c.3855T>C (p.Ser1285=)
|
rs2102464364
|
|
NM_206933.4(USH2A):c.3862G>T (p.Glu1288Ter)
|
rs2034907262
|
|
NM_206933.4(USH2A):c.3868A>C (p.Thr1290Pro)
|
|
|
NM_206933.4(USH2A):c.386T>C (p.Phe129Ser)
|
|
|
NM_206933.4(USH2A):c.3874G>A (p.Glu1292Lys)
|
|
|
NM_206933.4(USH2A):c.3876G>A (p.Glu1292=)
|
|
|
NM_206933.4(USH2A):c.3877G>T (p.Glu1293Ter)
|
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
NM_206933.4(USH2A):c.3882T>C (p.Ser1294=)
|
|
|
NM_206933.4(USH2A):c.3883C>A (p.Arg1295=)
|
rs764797292
|
|
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln)
|
rs372993160
|
|
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)
|
rs372993160
|
|
NM_206933.4(USH2A):c.3890_3891del (p.Phe1297fs)
|
|
|
NM_206933.4(USH2A):c.3900T>C (p.Ser1300=)
|
|
|
NM_206933.4(USH2A):c.3905G>A (p.Trp1302Ter)
|
|
|
NM_206933.4(USH2A):c.3906G>A (p.Trp1302Ter)
|
|
|
NM_206933.4(USH2A):c.3909C>T (p.Leu1303=)
|
rs2034905412
|
|
NM_206933.4(USH2A):c.3911_3917del (p.Ser1304fs)
|
rs2034905123
|
|
NM_206933.4(USH2A):c.3911del (p.Ser1304fs)
|
rs2102464224
|
|
NM_206933.4(USH2A):c.3912T>C (p.Ser1304=)
|
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
NM_206933.4(USH2A):c.3932C>T (p.Ser1311Leu)
|
|
|
NM_206933.4(USH2A):c.3948A>G (p.Ala1316=)
|
rs2102464099
|
|
NM_206933.4(USH2A):c.3956del (p.Pro1319fs)
|
rs2102464077
|
|
NM_206933.4(USH2A):c.3959C>A (p.Pro1320His)
|
rs771924569
|
|
NM_206933.4(USH2A):c.3959C>T (p.Pro1320Leu)
|
|
|
NM_206933.4(USH2A):c.3962A>C (p.Gln1321Pro)
|
|
|
NM_206933.4(USH2A):c.396C>A (p.His132Gln)
|
rs1332733047
|
|
NM_206933.4(USH2A):c.396C>T (p.His132=)
|
|
|
NM_206933.4(USH2A):c.3994T>C (p.Tyr1332His)
|
rs2034902104
|
|
NM_206933.4(USH2A):c.3998C>G (p.Thr1333Ser)
|
rs1282015565
|
|
NM_206933.4(USH2A):c.39G>A (p.Leu13=)
|
rs2102789261
|
|
NM_206933.4(USH2A):c.4002G>A (p.Lys1334=)
|
rs727503733
|
|
NM_206933.4(USH2A):c.4005T>C (p.Tyr1335=)
|
rs2034901738
|
|
NM_206933.4(USH2A):c.4005T>G (p.Tyr1335Ter)
|
rs2034901738
|
|
NM_206933.4(USH2A):c.4009T>A (p.Phe1337Ile)
|
rs2034901487
|
|
NM_206933.4(USH2A):c.400A>G (p.Ser134Gly)
|
rs2102788382
|
|
NM_206933.4(USH2A):c.4014A>G (p.Arg1338=)
|
rs1216480885
|
|
NM_206933.4(USH2A):c.401G>A (p.Ser134Asn)
|
rs1180218787
|
|
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu)
|
rs778505422
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.4028A>C (p.Asn1343Thr)
|
rs2034900753
|
|
NM_206933.4(USH2A):c.402C>T (p.Ser134=)
|
|
|
NM_206933.4(USH2A):c.402del (p.Cys135fs)
|
rs1255535680
|
|
NM_206933.4(USH2A):c.4033G>A (p.Ala1345Thr)
|
|
|
NM_206933.4(USH2A):c.4036G>A (p.Gly1346Arg)
|
rs1558311789
|
|
NM_206933.4(USH2A):c.4041T>C (p.Ser1347=)
|
|
|
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)
|
rs2034899784
|
|
NM_206933.4(USH2A):c.404G>T (p.Cys135Phe)
|
rs878992902
|
|
NM_206933.4(USH2A):c.4052C>T (p.Ala1351Val)
|
rs764359055
|
|
NM_206933.4(USH2A):c.4059C>T (p.Val1353=)
|
|
|
NM_206933.4(USH2A):c.4061C>G (p.Ser1354Ter)
|
|
|
NM_206933.4(USH2A):c.4062A>G (p.Ser1354=)
|
rs1173545767
|
|
NM_206933.4(USH2A):c.4064A>G (p.Glu1355Gly)
|
|
|
NM_206933.4(USH2A):c.4073G>A (p.Gly1358Glu)
|
|
|
NM_206933.4(USH2A):c.4074_4078del (p.Glu1359fs)
|
rs2102463707
|
|
NM_206933.4(USH2A):c.4077A>G (p.Glu1359=)
|
|
|
NM_206933.4(USH2A):c.4081+11A>G
|
|
|
NM_206933.4(USH2A):c.4081+12T>C
|
|
|
NM_206933.4(USH2A):c.4081+17del
|
|
|
NM_206933.4(USH2A):c.4081+18A>C
|
rs2102463632
|
|
NM_206933.4(USH2A):c.4081+19A>C
|
|
|
NM_206933.4(USH2A):c.4081+1G>A
|
rs2102463697
|
|
NM_206933.4(USH2A):c.4081+1_4081+9del
|
rs2102463667
|
|
NM_206933.4(USH2A):c.4081+20A>T
|
rs2102463626
|
|
NM_206933.4(USH2A):c.4081+9C>G
|
|
|
NM_206933.4(USH2A):c.4082-10T>C
|
|
|
NM_206933.4(USH2A):c.4082-11C>T
|
|
|
NM_206933.4(USH2A):c.4082-14_4082-12del
|
|
|
NM_206933.4(USH2A):c.4082-15_4082-10dup
|
|
|
NM_206933.4(USH2A):c.4082-17_4082-12del
|
|
|
NM_206933.4(USH2A):c.4082-17del
|
|
|
NM_206933.4(USH2A):c.4082-1G>A
|
rs747581764
|
|
NM_206933.4(USH2A):c.4082-4A>C
|
rs2102460802
|
|
NM_206933.4(USH2A):c.4082-5G>A
|
rs2102460806
|
|
NM_206933.4(USH2A):c.4082-9C>A
|
rs771412392
|
|
NM_206933.4(USH2A):c.4086T>G (p.Pro1362=)
|
rs2102460765
|
|
NM_206933.4(USH2A):c.4097T>C (p.Ile1366Thr)
|
rs2102460721
|
|
NM_206933.4(USH2A):c.4100C>A (p.Pro1367His)
|
rs2034854003
|
|
NM_206933.4(USH2A):c.4100C>T (p.Pro1367Leu)
|
|
|
NM_206933.4(USH2A):c.4102C>A (p.Pro1368Thr)
|
rs755867377
|
|
NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser)
|
rs755867377
|
|
NM_206933.4(USH2A):c.4104T>C (p.Pro1368=)
|
|
|
NM_206933.4(USH2A):c.4107A>C (p.Ser1369=)
|
rs757259797
|
|
NM_206933.4(USH2A):c.4107A>G (p.Ser1369=)
|
rs757259797
|
|
NM_206933.4(USH2A):c.4107_4124del (p.Val1370_Ser1375del)
|
rs1558310707
|
|
NM_206933.4(USH2A):c.4108dup (p.Val1370fs)
|
|
|
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
|
|
|
NM_206933.4(USH2A):c.4110C>G (p.Val1370=)
|
|
|
NM_206933.4(USH2A):c.4110C>T (p.Val1370=)
|
|
|
NM_206933.4(USH2A):c.4116C>T (p.Pro1372=)
|
rs2102460649
|
|
NM_206933.4(USH2A):c.4117dup (p.Leu1373fs)
|
|
|
NM_206933.4(USH2A):c.4118del (p.Leu1373fs)
|
rs2102460644
|
|
NM_206933.4(USH2A):c.4121_4122del (p.Ser1374fs)
|
rs2102460635
|
|
NM_206933.4(USH2A):c.4125del (p.Tyr1376fs)
|
rs1064793506
|
|
NM_206933.4(USH2A):c.4128C>G (p.Tyr1376Ter)
|
|
|
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr)
|
rs2102460604
|
|
NM_206933.4(USH2A):c.4130C>T (p.Ser1377Phe)
|
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
NM_206933.4(USH2A):c.4133_4134del (p.Leu1378fs)
|
rs397518015
|
|
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)
|
rs397518015
|
|
NM_206933.4(USH2A):c.4134C>A (p.Leu1378=)
|
|
|
NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser)
|
rs752569816
|
|
NM_206933.4(USH2A):c.4137T>C (p.Asn1379=)
|
|
|
NM_206933.4(USH2A):c.4140C>A (p.Ile1380=)
|
|
|
NM_206933.4(USH2A):c.4140C>T (p.Ile1380=)
|
rs2102460554
|
|
NM_206933.4(USH2A):c.4141T>A (p.Ser1381Thr)
|
|
|
NM_206933.4(USH2A):c.4141T>C (p.Ser1381Pro)
|
|
|
NM_206933.4(USH2A):c.4144T>G (p.Trp1382Gly)
|
|
|
NM_206933.4(USH2A):c.4147G>A (p.Glu1383Lys)
|
|
|
NM_206933.4(USH2A):c.4169C>T (p.Thr1390Ile)
|
rs370430107
|
|
NM_206933.4(USH2A):c.4172G>A (p.Arg1391Lys)
|
rs1239652746
|
|
NM_206933.4(USH2A):c.4174G>C (p.Gly1392Arg)
|
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.4179A>C (p.Lys1393Asn)
|
rs2102460456
|
|
NM_206933.4(USH2A):c.4184del (p.Val1395fs)
|
|
|
NM_206933.4(USH2A):c.4188G>A (p.Gly1396=)
|
|
|
NM_206933.4(USH2A):c.4188G>T (p.Gly1396=)
|
|
|
NM_206933.4(USH2A):c.4189T>A (p.Tyr1397Asn)
|
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
NM_206933.4(USH2A):c.418C>T (p.Pro140Ser)
|
|
|
NM_206933.4(USH2A):c.4191T>C (p.Tyr1397=)
|
|
|
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)
|
rs2034849647
|
|
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)
|
rs1308702971
|
|
NM_206933.4(USH2A):c.4218A>T (p.Ser1406=)
|
rs1572038611
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4223A>G (p.Gln1408Arg)
|
rs2102460311
|
|
NM_206933.4(USH2A):c.4224A>G (p.Gln1408=)
|
|
|
NM_206933.4(USH2A):c.4231A>T (p.Ile1411Phe)
|
rs2034848829
|
|
NM_206933.4(USH2A):c.4233T>A (p.Ile1411=)
|
rs140199346
|
|
NM_206933.4(USH2A):c.4233T>C (p.Ile1411=)
|
rs140199346
|
|
NM_206933.4(USH2A):c.4237A>G (p.Met1413Val)
|
rs758401969
|
|
NM_206933.4(USH2A):c.423T>A (p.Ser141=)
|
rs201770382
|
|
NM_206933.4(USH2A):c.423T>G (p.Ser141=)
|
rs201770382
|
|
NM_206933.4(USH2A):c.4243T>C (p.Phe1415Leu)
|
rs2034848341
|
|
NM_206933.4(USH2A):c.4245T>C (p.Phe1415=)
|
|
|
NM_206933.4(USH2A):c.4246dup (p.Ser1416fs)
|
rs2102460254
|
|
NM_206933.4(USH2A):c.4248A>C (p.Ser1416=)
|
rs2102460248
|
|
NM_206933.4(USH2A):c.4249C>G (p.Gln1417Glu)
|
|
|
NM_206933.4(USH2A):c.4249C>T (p.Gln1417Ter)
|
|
|
NM_206933.4(USH2A):c.4251+1G>A
|
rs878853405
|
|
NM_206933.4(USH2A):c.4251+1G>T
|
rs878853405
|
|
NM_206933.4(USH2A):c.4251+1del
|
rs2102460236
|
|
NM_206933.4(USH2A):c.4251+20del
|
|
|
NM_206933.4(USH2A):c.4251+3A>G
|
rs1181655123
|
|
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)
|
rs2102460239
|
|
NM_206933.4(USH2A):c.4252-12_4252-9del
|
|
|
NM_206933.4(USH2A):c.4252-13_4252-10del
|
|
|
NM_206933.4(USH2A):c.4252-15T>G
|
rs2102655247
|
|
NM_206933.4(USH2A):c.4252-15dup
|
rs770949401
|
|
NM_206933.4(USH2A):c.4252-16C>T
|
|
|
NM_206933.4(USH2A):c.4252-1G>A
|
|
|
NM_206933.4(USH2A):c.4252-20C>A
|
|
|
NM_206933.4(USH2A):c.4252-36CTTT[3]
|
|
|
NM_206933.4(USH2A):c.4252-36CTTT[4]
|
rs372388546
|
|
NM_206933.4(USH2A):c.4252-36CTTT[5]
|
rs372388546
|
|
NM_206933.4(USH2A):c.4252-36CTTT[7]
|
rs372388546
|
|
NM_206933.4(USH2A):c.4252-36CTTT[8]
|
|
|
NM_206933.4(USH2A):c.4252-5T>C
|
|
|
NM_206933.4(USH2A):c.4252-5T>G
|
|
|
NM_206933.4(USH2A):c.4255T>C (p.Leu1419=)
|
|
|
NM_206933.4(USH2A):c.4269A>G (p.Lys1423=)
|
rs2034690961
|
|
NM_206933.4(USH2A):c.4272C>T (p.Ser1424=)
|
|
|
NM_206933.4(USH2A):c.4273C>T (p.Gln1425Ter)
|
rs2102655189
|
|
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs)
|
rs1475129324
|
|
NM_206933.4(USH2A):c.4278A>G (p.Glu1426=)
|
|
|
NM_206933.4(USH2A):c.427A>G (p.Lys143Glu)
|
|
|
NM_206933.4(USH2A):c.4282T>C (p.Ser1428Pro)
|
rs369185265
|
|
NM_206933.4(USH2A):c.4288A>G (p.Thr1430Ala)
|
|
|
NM_206933.4(USH2A):c.4290T>A (p.Thr1430=)
|
rs2102655158
|
|
NM_206933.4(USH2A):c.4297_4298delinsTA (p.Gly1433Ter)
|
|
|
NM_206933.4(USH2A):c.4298G>A (p.Gly1433Glu)
|
|
|
NM_206933.4(USH2A):c.429G>A (p.Lys143=)
|
rs1271603061
|
|
NM_206933.4(USH2A):c.4303A>C (p.Lys1435Gln)
|
rs2102655149
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
NM_206933.4(USH2A):c.4311T>C (p.Tyr1437=)
|
|
|
NM_206933.4(USH2A):c.4313G>C (p.Arg1438Thr)
|
|
|
NM_206933.4(USH2A):c.4320T>A (p.Tyr1440Ter)
|
|
|
NM_206933.4(USH2A):c.4328C>A (p.Thr1443Asn)
|
|
|
NM_206933.4(USH2A):c.432G>A (p.Leu144=)
|
rs760787084
|
|
NM_206933.4(USH2A):c.4335T>G (p.Thr1445=)
|
rs397518016
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4347A>G (p.Ser1449=)
|
rs1386289035
|
|
NM_206933.4(USH2A):c.4348G>A (p.Val1450Ile)
|
|
|
NM_206933.4(USH2A):c.4348G>T (p.Val1450Phe)
|
|
|
NM_206933.4(USH2A):c.4353T>C (p.Gly1451=)
|
rs867127725
|
|
NM_206933.4(USH2A):c.4362C>T (p.Thr1454=)
|
|
|
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)
|
rs1553312493
|
|
NM_206933.4(USH2A):c.4370C>A (p.Ser1457Ter)
|
rs2034688425
|
|
NM_206933.4(USH2A):c.4377A>C (p.Ala1459=)
|
|
|
NM_206933.4(USH2A):c.4378G>T (p.Gly1460Ter)
|
|
|
NM_206933.4(USH2A):c.4380A>G (p.Gly1460=)
|
rs995638344
|
|
NM_206933.4(USH2A):c.4383A>G (p.Gln1461=)
|
rs978359064
|
|
NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile)
|
rs2034687815
|
|
NM_206933.4(USH2A):c.4388T>C (p.Leu1463Ser)
|
rs2034687690
|
|
NM_206933.4(USH2A):c.438A>G (p.Ala146=)
|
rs2102788284
|
|
NM_206933.4(USH2A):c.4396+11T>A
|
|
|
NM_206933.4(USH2A):c.4396+12T>C
|
|
|
NM_206933.4(USH2A):c.4396+13T>A
|
|
|
NM_206933.4(USH2A):c.4396+16T>G
|
|
|
NM_206933.4(USH2A):c.4396+19A>T
|
rs200067924
|
|
NM_206933.4(USH2A):c.4396+2T>C
|
|
|
NM_206933.4(USH2A):c.4396+9G>A
|
rs376159076
|
|
NM_206933.4(USH2A):c.4396+9G>C
|
rs376159076
|
|
NM_206933.4(USH2A):c.4397-18G>A
|
|
|
NM_206933.4(USH2A):c.4397-1del
|
|
|
NM_206933.4(USH2A):c.4397-6A>G
|
rs2102641277
|
|
NM_206933.4(USH2A):c.4397-8del
|
rs2102641285
|
|
NM_206933.4(USH2A):c.4398A>C (p.Ala1466=)
|
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.4403C>G (p.Ala1468Gly)
|
rs2102641265
|
|
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter)
|
rs797045113
|
|
NM_206933.4(USH2A):c.4407A>G (p.Gln1469=)
|
rs2102641259
|
|
NM_206933.4(USH2A):c.4411A>C (p.Arg1471=)
|
|
|
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr)
|
rs369357349
|
|
NM_206933.4(USH2A):c.4416del (p.Pro1473fs)
|
|
|
NM_206933.4(USH2A):c.4422G>A (p.Leu1474=)
|
|
|
NM_206933.4(USH2A):c.4425T>A (p.Val1475=)
|
|
|
NM_206933.4(USH2A):c.4429G>T (p.Gly1477Ter)
|
rs786205452
|
|
NM_206933.4(USH2A):c.4443A>C (p.Thr1481=)
|
|
|
NM_206933.4(USH2A):c.444T>C (p.Phe148=)
|
rs2102788261
|
|
NM_206933.4(USH2A):c.4452T>C (p.His1484=)
|
|
|
NM_206933.4(USH2A):c.4467A>G (p.Pro1489=)
|
|
|
NM_206933.4(USH2A):c.4467A>T (p.Pro1489=)
|
|
|
NM_206933.4(USH2A):c.4469C>A (p.Pro1490His)
|
rs2034358073
|
|
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)
|
rs869312179
|
|
NM_206933.4(USH2A):c.4477C>T (p.Leu1493=)
|
|
|
NM_206933.4(USH2A):c.4478del (p.Leu1493fs)
|
|
|
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile)
|
rs2034357761
|
|
NM_206933.4(USH2A):c.4482T>C (p.Asn1494=)
|
rs2102641164
|
|
NM_206933.4(USH2A):c.448T>C (p.Leu150=)
|
|
|
NM_206933.4(USH2A):c.4492C>T (p.Pro1498Ser)
|
rs2102641149
|
|
NM_206933.4(USH2A):c.4494T>A (p.Pro1498=)
|
|
|
NM_206933.4(USH2A):c.4494T>C (p.Pro1498=)
|
|
|
NM_206933.4(USH2A):c.4495A>G (p.Ile1499Val)
|
|
|
NM_206933.4(USH2A):c.4497A>T (p.Ile1499=)
|
|
|
NM_206933.4(USH2A):c.4498T>C (p.Tyr1500His)
|
|
|
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)
|
rs1553258037
|
|
NM_206933.4(USH2A):c.449T>C (p.Leu150Ser)
|
|
|
NM_206933.4(USH2A):c.449T>G (p.Leu150Ter)
|
rs1553258037
|
|
NM_206933.4(USH2A):c.4509A>G (p.Glu1503=)
|
|
|
NM_206933.4(USH2A):c.4510A>G (p.Arg1504Gly)
|
|
|
NM_206933.4(USH2A):c.4512G>A (p.Arg1504=)
|
|
|
NM_206933.4(USH2A):c.4521A>T (p.Ser1507=)
|
rs1483439932
|
|
NM_206933.4(USH2A):c.4527A>G (p.Leu1509=)
|
|
|
NM_206933.4(USH2A):c.452C>G (p.Ala151Gly)
|
rs1374492311
|
|
NM_206933.4(USH2A):c.4530A>C (p.Pro1510=)
|
rs751158662
|
|
NM_206933.4(USH2A):c.4530A>G (p.Pro1510=)
|
rs751158662
|
|
NM_206933.4(USH2A):c.4542C>T (p.Thr1514=)
|
rs752189124
|
|
NM_206933.4(USH2A):c.4545G>A (p.Thr1515=)
|
|
|
NM_206933.4(USH2A):c.4545G>T (p.Thr1515=)
|
rs1463684062
|
|
NM_206933.4(USH2A):c.4548G>A (p.Met1516Ile)
|
|
|
NM_206933.4(USH2A):c.454G>C (p.Val152Leu)
|
|
|
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe)
|
rs770790346
|
|
NM_206933.4(USH2A):c.4560C>A (p.Ile1520=)
|
|
|
NM_206933.4(USH2A):c.4565dup (p.Ile1523fs)
|
rs2102640989
|
|
NM_206933.4(USH2A):c.4566C>T (p.Phe1522=)
|
|
|
NM_206933.4(USH2A):c.4568T>C (p.Ile1523Thr)
|
|
|
NM_206933.4(USH2A):c.456_457insGGCTAAA (p.Trp153delinsGlyTer)
|
rs2102788229
|
|
NM_206933.4(USH2A):c.4577G>T (p.Gly1526Val)
|
|
|
NM_206933.4(USH2A):c.4578G>A (p.Gly1526=)
|
rs147560504
|
|
NM_206933.4(USH2A):c.457T>C (p.Trp153Arg)
|
|
|
NM_206933.4(USH2A):c.4584T>C (p.Cys1528=)
|
|
|
NM_206933.4(USH2A):c.4586A>G (p.Lys1529Arg)
|
rs41303255
|
|
NM_206933.4(USH2A):c.4587A>G (p.Lys1529=)
|
|
|
NM_206933.4(USH2A):c.458G>T (p.Trp153Leu)
|
rs2039682218
|
|
NM_206933.4(USH2A):c.4593C>G (p.Pro1531=)
|
|
|
NM_206933.4(USH2A):c.4596_4609del (p.Ser1533fs)
|
|
|
NM_206933.4(USH2A):c.4599C>T (p.Ser1533=)
|
|
|
NM_206933.4(USH2A):c.4615_4616insAA (p.Thr1539fs)
|
|
|
NM_206933.4(USH2A):c.4620C>G (p.Asp1540Glu)
|
|
|
NM_206933.4(USH2A):c.4626T>C (p.Thr1542=)
|
|
|
NM_206933.4(USH2A):c.4627+10935T>C
|
rs2102631193
|
|
NM_206933.4(USH2A):c.4627+13G>T
|
|
|
NM_206933.4(USH2A):c.4627+14A>G
|
|
|
NM_206933.4(USH2A):c.4627+16A>C
|
|
|
NM_206933.4(USH2A):c.4627+2086T>G
|
rs2102638826
|
|
NM_206933.4(USH2A):c.4627+367C>T
|
rs2034343668
|
|
NM_206933.4(USH2A):c.4627+3_4627+6del
|
|
|
NM_206933.4(USH2A):c.4627+4029G>A
|
rs2034270661
|
|
NM_206933.4(USH2A):c.4627+48A>T
|
rs74874838
|
|
NM_206933.4(USH2A):c.4627+5605A>C
|
rs2102635849
|
|
NM_206933.4(USH2A):c.4627+5G>A
|
|
|
NM_206933.4(USH2A):c.4627+6877A>G
|
rs1274789192
|
|
NM_206933.4(USH2A):c.4627+7319A>G
|
rs2102634320
|
|
NM_206933.4(USH2A):c.4627+7818C>T
|
rs2102633856
|
|
NM_206933.4(USH2A):c.4627+8039T>C
|
rs2102633629
|
|
NM_206933.4(USH2A):c.4627+9599A>G
|
rs2102632230
|
|
NM_206933.4(USH2A):c.4627+9916T>C
|
rs2102632005
|
|
NM_206933.4(USH2A):c.4627+9G>A
|
|
|
NM_206933.4(USH2A):c.4627G>A (p.Gly1543Ser)
|
rs2102640869
|
|
NM_206933.4(USH2A):c.4628-10G>A
|
|
|
NM_206933.4(USH2A):c.4628-10G>C
|
|
|
NM_206933.4(USH2A):c.4628-13C>T
|
|
|
NM_206933.4(USH2A):c.4628-14A>G
|
|
|
NM_206933.4(USH2A):c.4628-15C>T
|
|
|
NM_206933.4(USH2A):c.4628-19A>G
|
|
|
NM_206933.4(USH2A):c.4628-2A>G
|
rs2032462132
|
|
NM_206933.4(USH2A):c.4628-2A>T
|
|
|
NM_206933.4(USH2A):c.4628-3C>G
|
rs2102572923
|
|
NM_206933.4(USH2A):c.4628-5A>G
|
rs2102572927
|
|
NM_206933.4(USH2A):c.4628-8C>A
|
rs377520995
|
|
NM_206933.4(USH2A):c.4628G>A (p.Gly1543Asp)
|
|
|
NM_206933.4(USH2A):c.4636G>C (p.Ala1546Pro)
|
rs958361741
|
|
NM_206933.4(USH2A):c.4641C>T (p.Ser1547=)
|
|
|
NM_206933.4(USH2A):c.4644T>C (p.Phe1548=)
|
rs2032461643
|
|
NM_206933.4(USH2A):c.4646G>C (p.Arg1549Pro)
|
rs190170807
|
|
NM_206933.4(USH2A):c.4647A>G (p.Arg1549=)
|
|
|
NM_206933.4(USH2A):c.4650A>C (p.Thr1550=)
|
|
|
NM_206933.4(USH2A):c.4650A>G (p.Thr1550=)
|
rs1571958225
|
|
NM_206933.4(USH2A):c.465A>G (p.Lys155=)
|
rs2102788208
|
|
NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter)
|
|
|
NM_206933.4(USH2A):c.4668G>A (p.Leu1556=)
|
rs727503729
|
|
NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs)
|
rs747891004
|
|
NM_206933.4(USH2A):c.4682C>T (p.Ala1561Val)
|
|
|
NM_206933.4(USH2A):c.4683A>G (p.Ala1561=)
|
|
|
NM_206933.4(USH2A):c.4686A>G (p.Ser1562=)
|
rs2032460347
|
|
NM_206933.4(USH2A):c.4693A>G (p.Asn1565Asp)
|
|
|
NM_206933.4(USH2A):c.4696C>T (p.Gln1566Ter)
|
rs966964402
|
|
NM_206933.4(USH2A):c.4698_4702del (p.Glu1567fs)
|
|
|
NM_206933.4(USH2A):c.469G>T (p.Glu157Ter)
|
rs2102788200
|
|
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter)
|
rs2032459600
|
|
NM_206933.4(USH2A):c.4714C>G (p.Leu1572Val)
|
rs111033333
|
|
NM_206933.4(USH2A):c.4719G>A (p.Gln1573=)
|
rs2102572765
|
|
NM_206933.4(USH2A):c.471G>A (p.Glu157=)
|
|
|
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe)
|
rs866592573
|
|
NM_206933.4(USH2A):c.4748T>C (p.Phe1583Ser)
|
|
|
NM_206933.4(USH2A):c.4752T>C (p.Asp1584=)
|
rs1411201130
|
|
NM_206933.4(USH2A):c.4757A>G (p.Gln1586Arg)
|
rs2102572708
|
|
NM_206933.4(USH2A):c.4758+12A>C
|
|
|
NM_206933.4(USH2A):c.4758+13T>C
|
|
|
NM_206933.4(USH2A):c.4758+14C>T
|
|
|
NM_206933.4(USH2A):c.4758+15A>G
|
|
|
NM_206933.4(USH2A):c.4758+15A>T
|
|
|
NM_206933.4(USH2A):c.4758+1G>A
|
|
|
NM_206933.4(USH2A):c.4758+1del
|
rs2102572705
|
|
NM_206933.4(USH2A):c.4758+7G>A
|
|
|
NM_206933.4(USH2A):c.4758+9G>A
|
rs2102572695
|
|
NM_206933.4(USH2A):c.4758+9G>T
|
rs2102572695
|
|
NM_206933.4(USH2A):c.4759-11A>G
|
|
|
NM_206933.4(USH2A):c.4759-12C>A
|
rs1249512021
|
|
NM_206933.4(USH2A):c.4759-14T>C
|
|
|
NM_206933.4(USH2A):c.4759-15A>C
|
|
|
NM_206933.4(USH2A):c.4759-17T>C
|
|
|
NM_206933.4(USH2A):c.4759-17T>G
|
|
|
NM_206933.4(USH2A):c.4759-19del
|
|
|
NM_206933.4(USH2A):c.4759-20T>G
|
|
|
NM_206933.4(USH2A):c.4759-2A>G
|
rs2102565390
|
|
NM_206933.4(USH2A):c.4759-4T>C
|
rs1571952218
|
|
NM_206933.4(USH2A):c.4759-5T>A
|
|
|
NM_206933.4(USH2A):c.4759-6C>T
|
|
|
NM_206933.4(USH2A):c.4759-7C>T
|
|
|
NM_206933.4(USH2A):c.4759G>C (p.Gly1587Arg)
|
|
|
NM_206933.4(USH2A):c.475C>T (p.Gln159Ter)
|
rs1558081965
|
|
NM_206933.4(USH2A):c.4760G>A (p.Gly1587Glu)
|
rs757268481
|
|
NM_206933.4(USH2A):c.4761G>A (p.Gly1587=)
|
|
|
NM_206933.4(USH2A):c.4762T>C (p.Ser1588Pro)
|
|
|
NM_206933.4(USH2A):c.4764A>C (p.Ser1588=)
|
|
|
NM_206933.4(USH2A):c.4769dup (p.Glu1591fs)
|
rs2102565369
|
|
NM_206933.4(USH2A):c.4770G>A (p.Val1590=)
|
rs546481031
|
|
NM_206933.4(USH2A):c.4776A>T (p.Val1592=)
|
rs2102565352
|
|
NM_206933.4(USH2A):c.4777A>G (p.Thr1593Ala)
|
|
|
NM_206933.4(USH2A):c.4784C>T (p.Thr1595Ile)
|
|
|
NM_206933.4(USH2A):c.4788T>C (p.Asn1596=)
|
rs2032224351
|
|
NM_206933.4(USH2A):c.4789G>T (p.Asp1597Tyr)
|
rs2032224268
|
|
NM_206933.4(USH2A):c.4790A>T (p.Asp1597Val)
|
|
|
NM_206933.4(USH2A):c.4794T>C (p.His1598=)
|
rs2032223439
|
|
NM_206933.4(USH2A):c.4797C>A (p.Gly1599=)
|
rs2102565308
|
|
NM_206933.4(USH2A):c.4803A>G (p.Gln1601=)
|
|
|
NM_206933.4(USH2A):c.4804T>C (p.Tyr1602His)
|
|
|
NM_206933.4(USH2A):c.4806T>C (p.Tyr1602=)
|
|
|
NM_206933.4(USH2A):c.4809T>C (p.Ser1603=)
|
|
|
NM_206933.4(USH2A):c.4812T>A (p.Asp1604Glu)
|
rs2032222263
|
|
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs)
|
rs1553300558
|
|
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg)
|
rs2032221850
|
|
NM_206933.4(USH2A):c.4820G>A (p.Trp1607Ter)
|
rs769612846
|
|
NM_206933.4(USH2A):c.4823A>C (p.His1608Pro)
|
rs2032221370
|
|
NM_206933.4(USH2A):c.4823A>G (p.His1608Arg)
|
rs2032221370
|
|
NM_206933.4(USH2A):c.4824T>A (p.His1608Gln)
|
rs2102565260
|
|
NM_206933.4(USH2A):c.4824T>C (p.His1608=)
|
rs2102565260
|
|
NM_206933.4(USH2A):c.4830A>T (p.Ile1610=)
|
|
|
NM_206933.4(USH2A):c.4833T>C (p.Ile1611=)
|
rs2032221007
|
|
NM_206933.4(USH2A):c.483A>G (p.Val161=)
|
|
|
NM_206933.4(USH2A):c.4840A>C (p.Arg1614=)
|
rs2102565225
|
|
NM_206933.4(USH2A):c.4842G>A (p.Arg1614=)
|
rs2032220342
|
|
NM_206933.4(USH2A):c.4842G>C (p.Arg1614Ser)
|
rs2032220342
|
|
NM_206933.4(USH2A):c.4848G>A (p.Gln1616=)
|
rs2102565200
|
|
NM_206933.4(USH2A):c.485+14T>C
|
|
|
NM_206933.4(USH2A):c.485+17G>A
|
|
|
NM_206933.4(USH2A):c.485+18T>C
|
|
|
NM_206933.4(USH2A):c.485+20T>A
|
|
|
NM_206933.4(USH2A):c.485+9T>C
|
rs1317329452
|
|
NM_206933.4(USH2A):c.4851T>C (p.Ala1617=)
|
|
|
NM_206933.4(USH2A):c.485_485+2del
|
|
|
NM_206933.4(USH2A):c.486-10G>T
|
|
|
NM_206933.4(USH2A):c.486-13G>T
|
rs116367260
|
|
NM_206933.4(USH2A):c.486-147A>G
|
rs17026722
|
|
NM_206933.4(USH2A):c.486-17T>G
|
|
|
NM_206933.4(USH2A):c.486-17del
|
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.486-1_625del
|
rs1571801564
|
|
NM_206933.4(USH2A):c.486-4_486-2del
|
|
|
NM_206933.4(USH2A):c.486-6C>T
|
|
|
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val)
|
rs2032219588
|
|
NM_206933.4(USH2A):c.4875G>C (p.Gly1625=)
|
|
|
NM_206933.4(USH2A):c.4875G>T (p.Gly1625=)
|
rs779081953
|
|
NM_206933.4(USH2A):c.4883C>T (p.Thr1628Ile)
|
|
|
NM_206933.4(USH2A):c.4885+13T>G
|
|
|
NM_206933.4(USH2A):c.4885+15dup
|
|
|
NM_206933.4(USH2A):c.4885+18T>C
|
|
|
NM_206933.4(USH2A):c.4885+19G>A
|
|
|
NM_206933.4(USH2A):c.4885+20T>C
|
|
|
NM_206933.4(USH2A):c.4885+3A>G
|
|
|
NM_206933.4(USH2A):c.4885+4A>T
|
|
|
NM_206933.4(USH2A):c.4885+7A>G
|
rs756161381
|
|
NM_206933.4(USH2A):c.4885G>A (p.Gly1629Ser)
|
rs895973483
|
|
NM_206933.4(USH2A):c.4886-10T>C
|
|
|
NM_206933.4(USH2A):c.4886-11C>T
|
rs1240627704
|
|
NM_206933.4(USH2A):c.4886-11_4886-9del
|
rs780378545
|
|
NM_206933.4(USH2A):c.4886-16A>C
|
|
|
NM_206933.4(USH2A):c.4886-17C>G
|
|
|
NM_206933.4(USH2A):c.4886-1G>A
|
rs1553300340
|
|
NM_206933.4(USH2A):c.4886-33_4894dup
|
|
|
NM_206933.4(USH2A):c.4886-6C>G
|
|
|
NM_206933.4(USH2A):c.4886-6C>T
|
rs1476592923
|
|
NM_206933.4(USH2A):c.4886-7T>C
|
rs1254306288
|
|
NM_206933.4(USH2A):c.4886-8T>G
|
|
|
NM_206933.4(USH2A):c.4886G>A (p.Gly1629Asp)
|
rs2032148917
|
|
NM_206933.4(USH2A):c.4887T>C (p.Gly1629=)
|
|
|
NM_206933.4(USH2A):c.4899C>T (p.Ile1633=)
|
rs747922530
|
|
NM_206933.4(USH2A):c.4902G>A (p.Leu1634=)
|
|
|
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs)
|
rs1558251742
|
|
NM_206933.4(USH2A):c.4903A>G (p.Asn1635Asp)
|
|
|
NM_206933.4(USH2A):c.490G>T (p.Val164Phe)
|
rs527236123
|
|
NM_206933.4(USH2A):c.4916T>A (p.Val1639Asp)
|
|
|
NM_206933.4(USH2A):c.4919T>C (p.Ile1640Thr)
|
rs2102563226
|
|
NM_206933.4(USH2A):c.4919T>G (p.Ile1640Ser)
|
|
|
NM_206933.4(USH2A):c.4920T>A (p.Ile1640=)
|
|
|
NM_206933.4(USH2A):c.4922G>A (p.Gly1641Glu)
|
rs2102563222
|
|
NM_206933.4(USH2A):c.4932A>G (p.Thr1644=)
|
rs2102563221
|
|
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)
|
rs2032147505
|
|
NM_206933.4(USH2A):c.4934G>A (p.Gly1645Glu)
|
rs2032147421
|
|
NM_206933.4(USH2A):c.4941T>C (p.Phe1647=)
|
|
|
NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro)
|
rs1558251712
|
|
NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu)
|
rs1558251710
|
|
NM_206933.4(USH2A):c.4946G>T (p.Gly1649Val)
|
|
|
NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala)
|
rs1558251708
|
|
NM_206933.4(USH2A):c.4950G>T (p.Gly1650=)
|
rs2102563206
|
|
NM_206933.4(USH2A):c.4953C>T (p.Leu1651=)
|
|
|
NM_206933.4(USH2A):c.4955C>T (p.Pro1652Leu)
|
|
|
NM_206933.4(USH2A):c.4957C>A (p.Arg1653=)
|
|
|
NM_206933.4(USH2A):c.4966A>G (p.Thr1656Ala)
|
rs531169600
|
|
NM_206933.4(USH2A):c.4969A>G (p.Ile1657Val)
|
rs2032145863
|
|
NM_206933.4(USH2A):c.4971C>G (p.Ile1657Met)
|
rs756177409
|
|
NM_206933.4(USH2A):c.4976G>A (p.Arg1659Lys)
|
|
|
NM_206933.4(USH2A):c.497A>C (p.Glu166Ala)
|
|
|
NM_206933.4(USH2A):c.497A>G (p.Glu166Gly)
|
|
|
NM_206933.4(USH2A):c.4987+14G>A
|
|
|
NM_206933.4(USH2A):c.4987+18T>C
|
|
|
NM_206933.4(USH2A):c.4987+1G>A
|
rs768117100
|
|
NM_206933.4(USH2A):c.4987+5G>C
|
rs2032145172
|
|
NM_206933.4(USH2A):c.4988-12A>T
|
|
|
NM_206933.4(USH2A):c.4988-14A>G
|
|
|
NM_206933.4(USH2A):c.4988-15T>C
|
|
|
NM_206933.4(USH2A):c.4988-20A>G
|
|
|
NM_206933.4(USH2A):c.4988-2A>G
|
rs143521854
|
|
NM_206933.4(USH2A):c.4988-5T>G
|
rs2102561305
|
|
NM_206933.4(USH2A):c.4989G>A (p.Glu1663=)
|
rs1457503162
|
|
NM_206933.4(USH2A):c.4994_4995delinsCA (p.Ile1665Thr)
|
|
|
NM_206933.4(USH2A):c.4998A>T (p.Gln1666His)
|
rs2032076681
|
|
NM_206933.4(USH2A):c.5001del (p.Gly1668fs)
|
|
|
NM_206933.4(USH2A):c.5003G>A (p.Gly1668Asp)
|
|
|
NM_206933.4(USH2A):c.5003G>C (p.Gly1668Ala)
|
|
|
NM_206933.4(USH2A):c.5007del (p.Phe1669fs)
|
|
|
NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala)
|
rs750077857
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5012G>T (p.Gly1671Val)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5024del (p.Asp1675fs)
|
|
|
NM_206933.4(USH2A):c.5026G>A (p.Val1676Ile)
|
rs768619553
|
|
NM_206933.4(USH2A):c.5030A>G (p.His1677Arg)
|
|
|
NM_206933.4(USH2A):c.5031T>C (p.His1677=)
|
rs2032074940
|
|
NM_206933.4(USH2A):c.5034T>C (p.Phe1678=)
|
rs2102561220
|
|
NM_206933.4(USH2A):c.5038A>T (p.Lys1680Ter)
|
rs2032074764
|
|
NM_206933.4(USH2A):c.503_504inv (p.Thr168Met)
|
|
|
NM_206933.4(USH2A):c.5043T>C (p.Asn1681=)
|
|
|
NM_206933.4(USH2A):c.5046C>A (p.Tyr1682Ter)
|
|
|
NM_206933.4(USH2A):c.5057C>T (p.Ala1686Val)
|
|
|
NM_206933.4(USH2A):c.5069C>G (p.Pro1690Arg)
|
|
|
NM_206933.4(USH2A):c.5078G>A (p.Trp1693Ter)
|
|
|
NM_206933.4(USH2A):c.5079G>A (p.Trp1693Ter)
|
rs2032072206
|
|
NM_206933.4(USH2A):c.5083del (p.Ser1695fs)
|
rs1553300016
|
|
NM_206933.4(USH2A):c.5095C>T (p.Gln1699Ter)
|
|
|
NM_206933.4(USH2A):c.5098A>T (p.Ile1700Phe)
|
|
|
NM_206933.4(USH2A):c.5102A>G (p.Asn1701Ser)
|
|
|
NM_206933.4(USH2A):c.5103C>A (p.Asn1701Lys)
|
rs750028425
|
|
NM_206933.4(USH2A):c.5109T>G (p.Tyr1703Ter)
|
|
|
NM_206933.4(USH2A):c.510T>C (p.Asp170=)
|
rs2102784084
|
|
NM_206933.4(USH2A):c.5113A>T (p.Ser1705Cys)
|
|
|
NM_206933.4(USH2A):c.5120A>G (p.Glu1707Gly)
|
rs2032069724
|
|
NM_206933.4(USH2A):c.5120A>T (p.Glu1707Val)
|
|
|
NM_206933.4(USH2A):c.5122G>A (p.Gly1708Arg)
|
|
|
NM_206933.4(USH2A):c.5123G>C (p.Gly1708Ala)
|
rs2032069450
|
|
NM_206933.4(USH2A):c.5124A>G (p.Gly1708=)
|
|
|
NM_206933.4(USH2A):c.5127T>C (p.Cys1709=)
|
|
|
NM_206933.4(USH2A):c.5136A>C (p.Ser1712=)
|
rs143950713
|
|
NM_206933.4(USH2A):c.513G>A (p.Gly171=)
|
rs2102784068
|
|
NM_206933.4(USH2A):c.5151_5152del (p.Gln1718fs)
|
rs2032068125
|
|
NM_206933.4(USH2A):c.5152C>T (p.Gln1718Ter)
|
|
|
NM_206933.4(USH2A):c.5153A>C (p.Gln1718Pro)
|
rs2102561067
|
|
NM_206933.4(USH2A):c.5157C>A (p.Phe1719Leu)
|
|
|
NM_206933.4(USH2A):c.5158del (p.Phe1719_Leu1720insTer)
|
rs1571947978
|
|
NM_206933.4(USH2A):c.5162G>C (p.Gly1721Ala)
|
rs2032067781
|
|
NM_206933.4(USH2A):c.5167+15A>C
|
rs533195236
|
|
NM_206933.4(USH2A):c.5167+15A>G
|
rs533195236
|
|
NM_206933.4(USH2A):c.5167+16A>G
|
|
|
NM_206933.4(USH2A):c.5167+17G>A
|
|
|
NM_206933.4(USH2A):c.5167+19C>T
|
|
|
NM_206933.4(USH2A):c.5167+1G>A
|
rs794727408
|
|
NM_206933.4(USH2A):c.5167+1G>C
|
rs794727408
|
|
NM_206933.4(USH2A):c.5167+1G>T
|
rs794727408
|
|
NM_206933.4(USH2A):c.5167+20A>G
|
rs756960523
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
NM_206933.4(USH2A):c.5167+9C>T
|
|
|
NM_206933.4(USH2A):c.5167G>A (p.Gly1723Arg)
|
rs1342455785
|
|
NM_206933.4(USH2A):c.5168-14T>A
|
rs1271923068
|
|
NM_206933.4(USH2A):c.5168-17T>C
|
|
|
NM_206933.4(USH2A):c.5168-18A>G
|
|
|
NM_206933.4(USH2A):c.5168-20A>G
|
|
|
NM_206933.4(USH2A):c.5168-4A>G
|
|
|
NM_206933.4(USH2A):c.5168-8C>A
|
|
|
NM_206933.4(USH2A):c.5168-9T>G
|
|
|
NM_206933.4(USH2A):c.516G>A (p.Gln172=)
|
rs373781412
|
|
NM_206933.4(USH2A):c.5170T>G (p.Phe1724Val)
|
rs1381827718
|
|
NM_206933.4(USH2A):c.5172C>T (p.Phe1724=)
|
rs1001144573
|
|
NM_206933.4(USH2A):c.5181T>C (p.Leu1727=)
|
|
|
NM_206933.4(USH2A):c.5187A>C (p.Pro1729=)
|
|
|
NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)
|
|
|
NM_206933.4(USH2A):c.5192T>C (p.Met1731Thr)
|
rs2032020244
|
|
NM_206933.4(USH2A):c.5195T>C (p.Phe1732Ser)
|
rs2102559774
|
|
NM_206933.4(USH2A):c.519T>C (p.Ile173=)
|
rs1291156030
|
|
NM_206933.4(USH2A):c.5211C>T (p.Asn1737=)
|
|
|
NM_206933.4(USH2A):c.5218del (p.Ile1740fs)
|
rs2032019895
|
|
NM_206933.4(USH2A):c.5220T>A (p.Ile1740=)
|
rs2102559757
|
|
NM_206933.4(USH2A):c.5222C>T (p.Ser1741Phe)
|
rs945582459
|
|
NM_206933.4(USH2A):c.5227A>C (p.Lys1743Gln)
|
|
|
NM_206933.4(USH2A):c.5229G>A (p.Lys1743=)
|
rs984237334
|
|
NM_206933.4(USH2A):c.522G>A (p.Val174=)
|
rs767250706
|
|
NM_206933.4(USH2A):c.5242C>T (p.Gln1748Ter)
|
|
|
NM_206933.4(USH2A):c.5244A>G (p.Gln1748=)
|
|
|
NM_206933.4(USH2A):c.5246T>G (p.Leu1749Ter)
|
rs1558249837
|
|
NM_206933.4(USH2A):c.5250_5277del (p.Asn1750fs)
|
rs2102559671
|
|
NM_206933.4(USH2A):c.5251G>A (p.Gly1751Arg)
|
|
|
NM_206933.4(USH2A):c.5252G>A (p.Gly1751Glu)
|
|
|
NM_206933.4(USH2A):c.5254T>C (p.Leu1752=)
|
|
|
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp)
|
rs1469348824
|
|
NM_206933.4(USH2A):c.5268T>A (p.Val1756=)
|
|
|
NM_206933.4(USH2A):c.5268T>G (p.Val1756=)
|
|
|
NM_206933.4(USH2A):c.5270A>C (p.Tyr1757Ser)
|
|
|
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
|
|
|
NM_206933.4(USH2A):c.5274C>T (p.Asn1758=)
|
rs933035458
|
|
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu)
|
rs2102559662
|
|
NM_206933.4(USH2A):c.5284C>T (p.Pro1762Ser)
|
rs375496315
|
|
NM_206933.4(USH2A):c.5286T>A (p.Pro1762=)
|
|
|
NM_206933.4(USH2A):c.5286T>C (p.Pro1762=)
|
rs539759234
|
|
NM_206933.4(USH2A):c.5294T>C (p.Leu1765Pro)
|
rs2102559645
|
|
NM_206933.4(USH2A):c.5298+16T>G
|
|
|
NM_206933.4(USH2A):c.5298+19T>C
|
|
|
NM_206933.4(USH2A):c.5298+1G>T
|
|
|
NM_206933.4(USH2A):c.5298+7G>A
|
rs2102559630
|
|
NM_206933.4(USH2A):c.5299-12T>C
|
|
|
NM_206933.4(USH2A):c.5299-15dup
|
rs778186770
|
|
NM_206933.4(USH2A):c.5299-17T>C
|
|
|
NM_206933.4(USH2A):c.5299-20T>C
|
|
|
NM_206933.4(USH2A):c.5299-5T>C
|
|
|
NM_206933.4(USH2A):c.5299A>G (p.Met1767Val)
|
rs2031826279
|
|
NM_206933.4(USH2A):c.5304G>A (p.Glu1768=)
|
rs1484754043
|
|
NM_206933.4(USH2A):c.5306T>C (p.Leu1769Pro)
|
rs2102554586
|
|
NM_206933.4(USH2A):c.5307G>A (p.Leu1769=)
|
rs2102554577
|
|
NM_206933.4(USH2A):c.5307G>C (p.Leu1769=)
|
|
|
NM_206933.4(USH2A):c.530T>G (p.Leu177Arg)
|
|
|
NM_206933.4(USH2A):c.5322G>A (p.Leu1774=)
|
rs2102554554
|
|
NM_206933.4(USH2A):c.5331G>A (p.Arg1777=)
|
|
|
NM_206933.4(USH2A):c.5331G>C (p.Arg1777=)
|
rs771621501
|
|
NM_206933.4(USH2A):c.5331G>T (p.Arg1777=)
|
rs771621501
|
|
NM_206933.4(USH2A):c.5337T>C (p.Asn1779=)
|
|
|
NM_206933.4(USH2A):c.5349C>T (p.Ala1783=)
|
rs1429431295
|
|
NM_206933.4(USH2A):c.5352T>C (p.Phe1784=)
|
rs868019049
|
|
NM_206933.4(USH2A):c.5352dup (p.Thr1785fs)
|
rs1181345434
|
|
NM_206933.4(USH2A):c.5353A>C (p.Thr1785Pro)
|
|
|
NM_206933.4(USH2A):c.5355A>G (p.Thr1785=)
|
|
|
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)
|
rs2102554503
|
|
NM_206933.4(USH2A):c.5365C>A (p.Leu1789Ile)
|
|
|
NM_206933.4(USH2A):c.5365C>T (p.Leu1789=)
|
|
|
NM_206933.4(USH2A):c.5373G>C (p.Leu1791=)
|
rs876657628
|
|
NM_206933.4(USH2A):c.5376G>A (p.Gly1792=)
|
|
|
NM_206933.4(USH2A):c.5376G>T (p.Gly1792=)
|
|
|
NM_206933.4(USH2A):c.5385T>C (p.Tyr1795=)
|
rs2102554465
|
|
NM_206933.4(USH2A):c.5390A>G (p.Asn1797Ser)
|
rs2031822338
|
|
NM_206933.4(USH2A):c.5394A>G (p.Gly1798=)
|
|
|
NM_206933.4(USH2A):c.5397G>A (p.Lys1799=)
|
rs2031822032
|
|
NM_206933.4(USH2A):c.5398T>C (p.Trp1800Arg)
|
|
|
NM_206933.4(USH2A):c.5399G>T (p.Trp1800Leu)
|
|
|
NM_206933.4(USH2A):c.5406A>G (p.Lys1802=)
|
rs2102554429
|
|
NM_206933.4(USH2A):c.540T>G (p.Ser180=)
|
rs2102783985
|
|
NM_206933.4(USH2A):c.5421G>A (p.Lys1807=)
|
|
|
NM_206933.4(USH2A):c.5433C>T (p.Phe1811=)
|
|
|
NM_206933.4(USH2A):c.5446G>T (p.Val1816Leu)
|
rs2031819704
|
|
NM_206933.4(USH2A):c.5447T>A (p.Val1816Glu)
|
rs777011507
|
|
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly)
|
rs777011507
|
|
NM_206933.4(USH2A):c.5451T>C (p.Asn1817=)
|
rs2031819519
|
|
NM_206933.4(USH2A):c.5456T>C (p.Leu1819Pro)
|
|
|
NM_206933.4(USH2A):c.5459T>C (p.Met1820Thr)
|
rs201643378
|
|
NM_206933.4(USH2A):c.5459T>G (p.Met1820Arg)
|
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
NM_206933.4(USH2A):c.5466T>C (p.His1822=)
|
|
|
NM_206933.4(USH2A):c.5469A>C (p.Ala1823=)
|
rs1480384486
|
|
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu)
|
rs748792761
|
|
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
|
|
|
NM_206933.4(USH2A):c.5484C>T (p.Asp1828=)
|
rs2031817098
|
|
NM_206933.4(USH2A):c.5485C>T (p.Gln1829Ter)
|
rs2102554289
|
|
NM_206933.4(USH2A):c.5487G>A (p.Gln1829=)
|
|
|
NM_206933.4(USH2A):c.5494G>T (p.Val1832Leu)
|
|
|
NM_206933.4(USH2A):c.5498T>A (p.Val1833Glu)
|
rs2102554268
|
|
NM_206933.4(USH2A):c.549G>A (p.Glu183=)
|
|
|
NM_206933.4(USH2A):c.54A>G (p.Glu18=)
|
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5505A>C (p.Ser1835=)
|
|
|
NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr)
|
rs755032078
|
|
NM_206933.4(USH2A):c.5508A>C (p.Pro1836=)
|
|
|
NM_206933.4(USH2A):c.5512T>G (p.Tyr1838Asp)
|
|
|
NM_206933.4(USH2A):c.5512dup (p.Tyr1838fs)
|
rs2031815415
|
|
NM_206933.4(USH2A):c.5514T>C (p.Tyr1838=)
|
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5516T>C (p.Val1839Ala)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5519G>A (p.Gly1840Glu)
|
|
|
NM_206933.4(USH2A):c.551C>A (p.Thr184Asn)
|
rs2102783958
|
|
NM_206933.4(USH2A):c.551C>G (p.Thr184Ser)
|
|
|
NM_206933.4(USH2A):c.5522G>A (p.Gly1841Glu)
|
|
|
NM_206933.4(USH2A):c.5522G>T (p.Gly1841Val)
|
|
|
NM_206933.4(USH2A):c.5524A>G (p.Ile1842Val)
|
|
|
NM_206933.4(USH2A):c.5528C>T (p.Pro1843Leu)
|
rs200209833
|
|
NM_206933.4(USH2A):c.5529A>G (p.Pro1843=)
|
|
|
NM_206933.4(USH2A):c.5529A>T (p.Pro1843=)
|
rs1048762131
|
|
NM_206933.4(USH2A):c.552C>G (p.Thr184=)
|
|
|
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter)
|
rs761075303
|
|
NM_206933.4(USH2A):c.5541G>A (p.Leu1847=)
|
|
|
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs)
|
rs1553299022
|
|
NM_206933.4(USH2A):c.5547T>C (p.Ser1849=)
|
|
|
NM_206933.4(USH2A):c.5548del (p.Tyr1850fs)
|
rs2102554196
|
|
NM_206933.4(USH2A):c.5549A>G (p.Tyr1850Cys)
|
rs2031813684
|
|
NM_206933.4(USH2A):c.5552delinsTT (p.Gln1851fs)
|
|
|
NM_206933.4(USH2A):c.5556T>C (p.His1852=)
|
|
|
NM_206933.4(USH2A):c.5559G>A (p.Leu1853=)
|
|
|
NM_206933.4(USH2A):c.5565G>A (p.Leu1855=)
|
|
|
NM_206933.4(USH2A):c.5565G>T (p.Leu1855Phe)
|
rs2102554164
|
|
NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter)
|
|
|
NM_206933.4(USH2A):c.5572+10A>G
|
rs2102554137
|
|
NM_206933.4(USH2A):c.5572+10A>T
|
|
|
NM_206933.4(USH2A):c.5572+12C>A
|
|
|
NM_206933.4(USH2A):c.5572+20A>T
|
|
|
NM_206933.4(USH2A):c.5572+5G>A
|
|
|
NM_206933.4(USH2A):c.5572+7T>G
|
|
|
NM_206933.4(USH2A):c.5572G>C (p.Gly1858Arg)
|
|
|
NM_206933.4(USH2A):c.5573-1050GA[11]
|
rs35866358
|
|
NM_206933.4(USH2A):c.5573-1050GA[12]
|
rs35866358
|
|
NM_206933.4(USH2A):c.5573-1050GA[14]
|
rs35866358
|
|
NM_206933.4(USH2A):c.5573-1050GA[9]
|
rs35866358
|
|
NM_206933.4(USH2A):c.5573-127C>T
|
rs17026024
|
|
NM_206933.4(USH2A):c.5573-13_5573-10del
|
rs2102549269
|
|
NM_206933.4(USH2A):c.5573-15C>G
|
|
|
NM_206933.4(USH2A):c.5573-16C>G
|
|
|
NM_206933.4(USH2A):c.5573-17C>T
|
|
|
NM_206933.4(USH2A):c.5573-2A>G
|
rs1045789152
|
|
NM_206933.4(USH2A):c.5573-34del
|
rs35944387
|
|
NM_206933.4(USH2A):c.5573-578C>A
|
rs17026031
|
|
NM_206933.4(USH2A):c.5573-578C>T
|
rs17026031
|
|
NM_206933.4(USH2A):c.5573-5G>C
|
|
|
NM_206933.4(USH2A):c.5573-5G>T
|
rs1282525905
|
|
NM_206933.4(USH2A):c.5573-60A>C
|
rs76916412
|
|
NM_206933.4(USH2A):c.5573-6dup
|
|
|
NM_206933.4(USH2A):c.5573-843A>G
|
rs556882699
|
|
NM_206933.4(USH2A):c.5573-9A>C
|
|
|
NM_206933.4(USH2A):c.5573-9A>G
|
|
|
NM_206933.4(USH2A):c.5578G>A (p.Gly1860Ser)
|
|
|
NM_206933.4(USH2A):c.5579G>A (p.Gly1860Asp)
|
rs2031626504
|
|
NM_206933.4(USH2A):c.5582G>T (p.Gly1861Val)
|
|
|
NM_206933.4(USH2A):c.5588T>C (p.Met1863Thr)
|
|
|
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val)
|
rs760543320
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.5603_5613del (p.Phe1868fs)
|
|
|
NM_206933.4(USH2A):c.560A>C (p.Tyr187Ser)
|
rs2102783945
|
|
NM_206933.4(USH2A):c.5610G>A (p.Arg1870=)
|
|
|
NM_206933.4(USH2A):c.5613T>C (p.Gly1871=)
|
|
|
NM_206933.4(USH2A):c.5614_5615insTAACTTGGCAT (p.Ala1872fs)
|
rs2031623445
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5614delinsTTAAGTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5618T>C (p.Val1873Ala)
|
|
|
NM_206933.4(USH2A):c.5620G>A (p.Val1874Ile)
|
|
|
NM_206933.4(USH2A):c.5624A>T (p.Asn1875Ile)
|
|
|
NM_206933.4(USH2A):c.5626T>C (p.Leu1876=)
|
|
|
NM_206933.4(USH2A):c.5629G>T (p.Ala1877Ser)
|
|
|
NM_206933.4(USH2A):c.562T>C (p.Tyr188His)
|
|
|
NM_206933.4(USH2A):c.5630C>A (p.Ala1877Glu)
|
|
|
NM_206933.4(USH2A):c.5635del (p.Val1879fs)
|
|
|
NM_206933.4(USH2A):c.563A>C (p.Tyr188Ser)
|
rs2102783934
|
|
NM_206933.4(USH2A):c.563A>G (p.Tyr188Cys)
|
|
|
NM_206933.4(USH2A):c.5644G>A (p.Gly1882Ser)
|
|
|
NM_206933.4(USH2A):c.5645G>A (p.Gly1882Asp)
|
rs2031621745
|
|
NM_206933.4(USH2A):c.5646T>C (p.Gly1882=)
|
rs2102549113
|
|
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
|
|
|
NM_206933.4(USH2A):c.5658C>T (p.Val1886=)
|
|
|
NM_206933.4(USH2A):c.5664G>A (p.Leu1888=)
|
rs2102549080
|
|
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
|
rs775803174
|
|
NM_206933.4(USH2A):c.5668G>A (p.Gly1890Arg)
|
rs2102549065
|
|
NM_206933.4(USH2A):c.566G>A (p.Arg189His)
|
rs747767544
|
|
NM_206933.4(USH2A):c.566G>T (p.Arg189Leu)
|
rs747767544
|
|
NM_206933.4(USH2A):c.5673C>T (p.Cys1891=)
|
rs2102549060
|
|
NM_206933.4(USH2A):c.5676A>G (p.Leu1892=)
|
rs2102549051
|
|
NM_206933.4(USH2A):c.5678C>A (p.Ser1893Ter)
|
|
|
NM_206933.4(USH2A):c.5678C>G (p.Ser1893Ter)
|
rs2031620246
|
|
NM_206933.4(USH2A):c.5680A>G (p.Thr1894Ala)
|
rs2102549045
|
|
NM_206933.4(USH2A):c.5681C>G (p.Thr1894Ser)
|
|
|
NM_206933.4(USH2A):c.5685C>T (p.Asp1895=)
|
|
|
NM_206933.4(USH2A):c.568A>C (p.Thr190Pro)
|
|
|
NM_206933.4(USH2A):c.568A>G (p.Thr190Ala)
|
|
|
NM_206933.4(USH2A):c.5691T>C (p.Ala1897=)
|
|
|
NM_206933.4(USH2A):c.5692G>A (p.Val1898Ile)
|
rs758808748
|
|
NM_206933.4(USH2A):c.5693T>C (p.Val1898Ala)
|
|
|
NM_206933.4(USH2A):c.5698T>C (p.Cys1900Arg)
|
rs201026468
|
|
NM_206933.4(USH2A):c.5699G>C (p.Cys1900Ser)
|
|
|
NM_206933.4(USH2A):c.5700C>T (p.Cys1900=)
|
rs2102549009
|
|
NM_206933.4(USH2A):c.5701A>C (p.Arg1901=)
|
|
|
NM_206933.4(USH2A):c.5705G>A (p.Gly1902Glu)
|
|
|
NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser)
|
rs1162070622
|
|
NM_206933.4(USH2A):c.570A>C (p.Thr190=)
|
|
|
NM_206933.4(USH2A):c.5719C>T (p.Leu1907=)
|
rs2102548982
|
|
NM_206933.4(USH2A):c.5719del (p.Leu1907fs)
|
|
|
NM_206933.4(USH2A):c.5721G>C (p.Leu1907=)
|
rs767435169
|
|
NM_206933.4(USH2A):c.5721G>T (p.Leu1907=)
|
rs767435169
|
|
NM_206933.4(USH2A):c.5722G>A (p.Val1908Ile)
|
|
|
NM_206933.4(USH2A):c.5726A>T (p.Tyr1909Phe)
|
rs761586978
|
|
NM_206933.4(USH2A):c.5728C>T (p.Gln1910Ter)
|
rs2031617950
|
|
NM_206933.4(USH2A):c.5729A>G (p.Gln1910Arg)
|
|
|
NM_206933.4(USH2A):c.5735_5736del (p.Lys1912fs)
|
|
|
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)
|
rs762837293
|
|
NM_206933.4(USH2A):c.5739G>T (p.Glu1913Asp)
|
rs41277216
|
|
NM_206933.4(USH2A):c.5742G>A (p.Gln1914=)
|
rs565760098
|
|
NM_206933.4(USH2A):c.5748T>G (p.Val1916=)
|
rs894534861
|
|
NM_206933.4(USH2A):c.5751C>A (p.Tyr1917Ter)
|
rs145742052
|
|
NM_206933.4(USH2A):c.5751C>G (p.Tyr1917Ter)
|
rs145742052
|
|
NM_206933.4(USH2A):c.5752G>T (p.Glu1918Ter)
|
rs529355834
|
|
NM_206933.4(USH2A):c.5760T>C (p.Gly1920=)
|
rs2102548916
|
|
NM_206933.4(USH2A):c.5763C>G (p.Leu1921=)
|
rs2102548914
|
|
NM_206933.4(USH2A):c.5764C>T (p.Gln1922Ter)
|
rs1571936130
|
|
NM_206933.4(USH2A):c.5767C>G (p.Pro1923Ala)
|
|
|
NM_206933.4(USH2A):c.5768C>T (p.Pro1923Leu)
|
rs2102548904
|
|
NM_206933.4(USH2A):c.5769T>C (p.Pro1923=)
|
|
|
NM_206933.4(USH2A):c.576T>C (p.Asn192=)
|
|
|
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=)
|
rs747419030
|
|
NM_206933.4(USH2A):c.5776+12G>A
|
rs1571936090
|
|
NM_206933.4(USH2A):c.5776+15dup
|
|
|
NM_206933.4(USH2A):c.5776+19A>T
|
|
|
NM_206933.4(USH2A):c.5776+2T>C
|
rs866978361
|
|
NM_206933.4(USH2A):c.5776+2T>G
|
rs866978361
|
|
NM_206933.4(USH2A):c.5776+7T>C
|
rs397518020
|
|
NM_206933.4(USH2A):c.5776+9G>T
|
rs1405078779
|
|
NM_206933.4(USH2A):c.5776G>A (p.Glu1926Lys)
|
|
|
NM_206933.4(USH2A):c.5777-10T>C
|
|
|
NM_206933.4(USH2A):c.5777-13A>T
|
|
|
NM_206933.4(USH2A):c.5777-18A>C
|
rs2102548715
|
|
NM_206933.4(USH2A):c.5777-1G>A
|
|
|
NM_206933.4(USH2A):c.5777-1G>T
|
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
NM_206933.4(USH2A):c.5777-4T>A
|
|
|
NM_206933.4(USH2A):c.5777-9C>T
|
|
|
NM_206933.4(USH2A):c.5778A>G (p.Glu1926=)
|
|
|
NM_206933.4(USH2A):c.5779T>G (p.Tyr1927Asp)
|
|
|
NM_206933.4(USH2A):c.577G>A (p.Gly193Ser)
|
rs1472492116
|
|
NM_206933.4(USH2A):c.577G>C (p.Gly193Arg)
|
rs1472492116
|
|
NM_206933.4(USH2A):c.577G>T (p.Gly193Cys)
|
rs1472492116
|
|
NM_206933.4(USH2A):c.5781C>A (p.Tyr1927Ter)
|
rs760845108
|
|
NM_206933.4(USH2A):c.5781C>G (p.Tyr1927Ter)
|
|
|
NM_206933.4(USH2A):c.5784G>C (p.Leu1928=)
|
|
|
NM_206933.4(USH2A):c.5788C>A (p.Arg1930=)
|
rs397518021
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.5795T>C (p.Ile1932Thr)
|
|
|
NM_206933.4(USH2A):c.5796A>T (p.Ile1932=)
|
|
|
NM_206933.4(USH2A):c.5797G>A (p.Ala1933Thr)
|
|
|
NM_206933.4(USH2A):c.579T>C (p.Gly193=)
|
|
|
NM_206933.4(USH2A):c.5802G>C (p.Ser1934=)
|
|
|
NM_206933.4(USH2A):c.5802G>T (p.Ser1934=)
|
|
|
NM_206933.4(USH2A):c.5804A>G (p.His1935Arg)
|
|
|
NM_206933.4(USH2A):c.5805T>C (p.His1935=)
|
rs1213153161
|
|
NM_206933.4(USH2A):c.5808A>G (p.Glu1936=)
|
|
|
NM_206933.4(USH2A):c.580T>C (p.Leu194=)
|
rs2102783861
|
|
NM_206933.4(USH2A):c.5813G>A (p.Gly1938Asp)
|
|
|
NM_206933.4(USH2A):c.5813G>T (p.Gly1938Val)
|
rs2031607385
|
|
NM_206933.4(USH2A):c.5818del (p.Val1940fs)
|
rs2102548644
|
|
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala)
|
rs2031607129
|
|
NM_206933.4(USH2A):c.5820A>G (p.Val1940=)
|
rs2031607039
|
|
NM_206933.4(USH2A):c.5823T>C (p.Tyr1941=)
|
|
|
NM_206933.4(USH2A):c.5824A>G (p.Ser1942Gly)
|
|
|
NM_206933.4(USH2A):c.5825G>A (p.Ser1942Asn)
|
|
|
NM_206933.4(USH2A):c.582G>A (p.Leu194=)
|
|
|
NM_206933.4(USH2A):c.5832G>A (p.Trp1944Ter)
|
|
|
NM_206933.4(USH2A):c.5832dup (p.Ser1945fs)
|
rs2102548612
|
|
NM_206933.4(USH2A):c.5835_5836dup (p.Arg1946fs)
|
rs1221017154
|
|
NM_206933.4(USH2A):c.5837G>A (p.Arg1946Gln)
|
|
|
NM_206933.4(USH2A):c.5842C>A (p.Arg1948Ser)
|
|
|
NM_206933.4(USH2A):c.5843G>A (p.Arg1948His)
|
|
|
NM_206933.4(USH2A):c.5845A>G (p.Thr1949Ala)
|
|
|
NM_206933.4(USH2A):c.5847A>G (p.Thr1949=)
|
rs766667813
|
|
NM_206933.4(USH2A):c.5848A>G (p.Thr1950Ala)
|
rs2102548566
|
|
NM_206933.4(USH2A):c.5850A>G (p.Thr1950=)
|
|
|
NM_206933.4(USH2A):c.5850A>T (p.Thr1950=)
|
rs2031604969
|
|
NM_206933.4(USH2A):c.5853A>C (p.Gly1951=)
|
|
|
NM_206933.4(USH2A):c.5856A>G (p.Ala1952=)
|
rs772046465
|
|
NM_206933.4(USH2A):c.5857+10T>C
|
rs762246724
|
|
NM_206933.4(USH2A):c.5857+14T>C
|
|
|
NM_206933.4(USH2A):c.5857+1G>C
|
rs2031604509
|
|
NM_206933.4(USH2A):c.5857+1del
|
|
|
NM_206933.4(USH2A):c.5857+7A>T
|
|
|
NM_206933.4(USH2A):c.5858-15T>G
|
|
|
NM_206933.4(USH2A):c.5858-18T>C
|
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.5858-4A>C
|
rs1006044101
|
|
NM_206933.4(USH2A):c.5858-9C>T
|
|
|
NM_206933.4(USH2A):c.5859T>A (p.Ala1953=)
|
rs2102546286
|
|
NM_206933.4(USH2A):c.5863C>T (p.Gln1955Ter)
|
|
|
NM_206933.4(USH2A):c.5868T>C (p.Ser1956=)
|
rs2102546276
|
|
NM_206933.4(USH2A):c.5870_5871del (p.Val1957fs)
|
|
|
NM_206933.4(USH2A):c.5871G>T (p.Val1957=)
|
rs2102546274
|
|
NM_206933.4(USH2A):c.5876C>T (p.Thr1959Ile)
|
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.5879C>T (p.Pro1960Leu)
|
rs993560288
|
|
NM_206933.4(USH2A):c.5880C>T (p.Pro1960=)
|
|
|
NM_206933.4(USH2A):c.5881T>A (p.Ser1961Thr)
|
|
|
NM_206933.4(USH2A):c.5883A>C (p.Ser1961=)
|
rs747704909
|
|
NM_206933.4(USH2A):c.5883A>G (p.Ser1961=)
|
rs747704909
|
|
NM_206933.4(USH2A):c.588T>G (p.Pro196=)
|
|
|
NM_206933.4(USH2A):c.5891G>A (p.Arg1964His)
|
rs149465057
|
|
NM_206933.4(USH2A):c.5898A>G (p.Leu1966=)
|
rs2102546224
|
|
NM_206933.4(USH2A):c.5907C>T (p.Tyr1969=)
|
rs1002170789
|
|
NM_206933.4(USH2A):c.5916G>A (p.Glu1972=)
|
rs2031513920
|
|
NM_206933.4(USH2A):c.5919G>A (p.Val1973=)
|
rs2102546199
|
|
NM_206933.4(USH2A):c.5921C>T (p.Thr1974Ile)
|
rs1558241630
|
|
NM_206933.4(USH2A):c.5929G>A (p.Glu1977Lys)
|
rs1453112061
|
|
NM_206933.4(USH2A):c.5933C>A (p.Pro1978His)
|
rs2031513346
|
|
NM_206933.4(USH2A):c.5933del (p.Pro1978fs)
|
|
|
NM_206933.4(USH2A):c.5934T>C (p.Pro1978=)
|
rs2102546183
|
|
NM_206933.4(USH2A):c.5935G>A (p.Val1979Ile)
|
|
|
NM_206933.4(USH2A):c.5943A>G (p.Arg1981=)
|
rs2102546168
|
|
NM_206933.4(USH2A):c.5945G>T (p.Gly1982Val)
|
|
|
NM_206933.4(USH2A):c.5945dup (p.Val1983fs)
|
|
|
NM_206933.4(USH2A):c.5946T>A (p.Gly1982=)
|
|
|
NM_206933.4(USH2A):c.5946T>C (p.Gly1982=)
|
|
|
NM_206933.4(USH2A):c.5949A>C (p.Val1983=)
|
|
|
NM_206933.4(USH2A):c.5953G>C (p.Glu1985Gln)
|
rs150143291
|
|
NM_206933.4(USH2A):c.5956A>G (p.Lys1986Glu)
|
|
|
NM_206933.4(USH2A):c.5957A>G (p.Lys1986Arg)
|
rs2102546147
|
|
NM_206933.4(USH2A):c.5958G>A (p.Lys1986=)
|
rs2102546143
|
|
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
NM_206933.4(USH2A):c.5961C>A (p.Tyr1987Ter)
|
rs773927620
|
|
NM_206933.4(USH2A):c.5961C>T (p.Tyr1987=)
|
rs773927620
|
|
NM_206933.4(USH2A):c.5962A>G (p.Ile1988Val)
|
|
|
NM_206933.4(USH2A):c.5965C>T (p.Leu1989=)
|
rs1571933193
|
|
NM_206933.4(USH2A):c.5967G>A (p.Leu1989=)
|
|
|
NM_206933.4(USH2A):c.596A>G (p.Lys199Arg)
|
rs2102783823
|
|
NM_206933.4(USH2A):c.5973C>G (p.Ala1991=)
|
|
|
NM_206933.4(USH2A):c.5977A>T (p.Ser1993Cys)
|
rs758041992
|
|
NM_206933.4(USH2A):c.5983dup (p.Asp1995fs)
|
rs2102546096
|
|
NM_206933.4(USH2A):c.5985C>T (p.Asp1995=)
|
|
|
NM_206933.4(USH2A):c.5988C>T (p.Ser1996=)
|
rs2102546091
|
|
NM_206933.4(USH2A):c.598G>A (p.Val200Ile)
|
rs781022362
|
|
NM_206933.4(USH2A):c.598G>C (p.Val200Leu)
|
rs781022362
|
|
NM_206933.4(USH2A):c.5990C>T (p.Thr1997Ile)
|
rs2031510445
|
|
NM_206933.4(USH2A):c.5991C>G (p.Thr1997=)
|
rs2102546086
|
|
NM_206933.4(USH2A):c.5994T>G (p.Arg1998=)
|
|
|
NM_206933.4(USH2A):c.5998C>T (p.Pro2000Ser)
|
|
|
NM_206933.4(USH2A):c.5A>G (p.Asn2Ser)
|
rs772861429
|
|
NM_206933.4(USH2A):c.5_6delinsTA (p.Asn2Ile)
|
|
|
NM_206933.4(USH2A):c.6001C>G (p.Arg2001Gly)
|
|
|
NM_206933.4(USH2A):c.6002G>A (p.Arg2001His)
|
|
|
NM_206933.4(USH2A):c.6006G>A (p.Met2002Ile)
|
|
|
NM_206933.4(USH2A):c.6009C>T (p.Pro2003=)
|
rs1173712232
|
|
NM_206933.4(USH2A):c.600A>G (p.Val200=)
|
rs2039614850
|
|
NM_206933.4(USH2A):c.6016A>G (p.Ser2006Gly)
|
|
|
NM_206933.4(USH2A):c.6029del (p.Val2010fs)
|
|
|
NM_206933.4(USH2A):c.602T>C (p.Met201Thr)
|
rs2102783802
|
|
NM_206933.4(USH2A):c.6033T>C (p.Asn2011=)
|
|
|
NM_206933.4(USH2A):c.6038G>T (p.Ser2013Ile)
|
rs2102546025
|
|
NM_206933.4(USH2A):c.6042C>A (p.Asn2014Lys)
|
|
|
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
|
|
|
NM_206933.4(USH2A):c.6049+12C>T
|
|
|
NM_206933.4(USH2A):c.6049+13del
|
|
|
NM_206933.4(USH2A):c.6049+18A>G
|
|
|
NM_206933.4(USH2A):c.6049+19C>G
|
|
|
NM_206933.4(USH2A):c.6049+20A>C
|
|
|
NM_206933.4(USH2A):c.6049+20del
|
|
|
NM_206933.4(USH2A):c.6049+7G>A
|
|
|
NM_206933.4(USH2A):c.6049+9A>C
|
rs1249404741
|
|
NM_206933.4(USH2A):c.6050-11T>C
|
|
|
NM_206933.4(USH2A):c.6050-24del
|
rs570090751
|
|
NM_206933.4(USH2A):c.6050-2A>G
|
rs772124060
|
|
NM_206933.4(USH2A):c.6050-7A>G
|
|
|
NM_206933.4(USH2A):c.6050-7A>T
|
rs2102526792
|
|
NM_206933.4(USH2A):c.6055T>C (p.Leu2019=)
|
rs2102526776
|
|
NM_206933.4(USH2A):c.6059C>G (p.Thr2020Arg)
|
|
|
NM_206933.4(USH2A):c.6060A>G (p.Thr2020=)
|
|
|
NM_206933.4(USH2A):c.6060A>T (p.Thr2020=)
|
|
|
NM_206933.4(USH2A):c.6066G>A (p.Leu2022=)
|
rs2030625186
|
|
NM_206933.4(USH2A):c.6072C>T (p.Pro2024=)
|
|
|
NM_206933.4(USH2A):c.6078A>G (p.Lys2026=)
|
|
|
NM_206933.4(USH2A):c.607C>G (p.Leu203Val)
|
|
|
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
|
|
|
NM_206933.4(USH2A):c.6087A>G (p.Ala2029=)
|
|
|
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=)
|
rs727503726
|
|
NM_206933.4(USH2A):c.6094C>T (p.Leu2032=)
|
rs1385829693
|
|
NM_206933.4(USH2A):c.6099T>C (p.Thr2033=)
|
rs1414181010
|
|
NM_206933.4(USH2A):c.609G>A (p.Leu203=)
|
|
|
NM_206933.4(USH2A):c.60G>C (p.Leu20Phe)
|
rs767611127
|
|
NM_206933.4(USH2A):c.6100G>T (p.Ala2034Ser)
|
rs2030621478
|
|
NM_206933.4(USH2A):c.6102T>C (p.Ala2034=)
|
rs2102526704
|
|
NM_206933.4(USH2A):c.6105C>T (p.Cys2035=)
|
|
|
NM_206933.4(USH2A):c.6114T>C (p.Ala2038=)
|
rs1052386893
|
|
NM_206933.4(USH2A):c.6118T>C (p.Cys2040Arg)
|
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6120T>C (p.Cys2040=)
|
|
|
NM_206933.4(USH2A):c.6126G>A (p.Glu2042=)
|
rs768651513
|
|
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
|
rs2030619513
|
|
NM_206933.4(USH2A):c.6129C>T (p.Ser2043=)
|
|
|
NM_206933.4(USH2A):c.612dup (p.Arg205fs)
|
rs2039614529
|
|
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)
|
rs1209837469
|
|
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu)
|
rs111033514
|
|
NM_206933.4(USH2A):c.6135T>C (p.His2045=)
|
|
|
NM_206933.4(USH2A):c.6138A>G (p.Ala2046=)
|
rs2102526669
|
|
NM_206933.4(USH2A):c.6139T>C (p.Leu2047=)
|
rs2102526664
|
|
NM_206933.4(USH2A):c.6140T>A (p.Leu2047Ter)
|
rs1368784894
|
|
NM_206933.4(USH2A):c.6150T>G (p.Ser2050=)
|
rs757618478
|
|
NM_206933.4(USH2A):c.6152C>T (p.Thr2051Ile)
|
|
|
NM_206933.4(USH2A):c.6153T>C (p.Thr2051=)
|
rs754250829
|
|
NM_206933.4(USH2A):c.6156A>C (p.Pro2052=)
|
rs752331878
|
|
NM_206933.4(USH2A):c.6156A>G (p.Pro2052=)
|
|
|
NM_206933.4(USH2A):c.6157C>G (p.Gln2053Glu)
|
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.615A>G (p.Arg205=)
|
|
|
NM_206933.4(USH2A):c.6163+10T>C
|
|
|
NM_206933.4(USH2A):c.6163+15A>G
|
|
|
NM_206933.4(USH2A):c.6163+17G>C
|
|
|
NM_206933.4(USH2A):c.6163+1G>A
|
rs2030617696
|
|
NM_206933.4(USH2A):c.6163+9A>G
|
rs2102526635
|
|
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)
|
rs768233523
|
|
NM_206933.4(USH2A):c.6164-20A>G
|
|
|
NM_206933.4(USH2A):c.6164-4A>G
|
rs2102524959
|
|
NM_206933.4(USH2A):c.6164-5dup
|
rs2102524961
|
|
NM_206933.4(USH2A):c.6164-9C>T
|
rs2030532992
|
|
NM_206933.4(USH2A):c.6166C>T (p.Pro2056Ser)
|
|
|
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del)
|
rs776262139
|
|
NM_206933.4(USH2A):c.6175G>A (p.Val2059Ile)
|
rs767444125
|
|
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs)
|
rs1553294144
|
|
NM_206933.4(USH2A):c.6180G>A (p.Gln2060=)
|
rs1239779645
|
|
NM_206933.4(USH2A):c.6186A>G (p.Pro2062=)
|
rs200247886
|
|
NM_206933.4(USH2A):c.6195del (p.Lys2065fs)
|
|
|
NM_206933.4(USH2A):c.6203C>T (p.Pro2068Leu)
|
|
|
NM_206933.4(USH2A):c.6207T>C (p.Ser2069=)
|
|
|
NM_206933.4(USH2A):c.6210T>C (p.Ser2070=)
|
|
|
NM_206933.4(USH2A):c.6211_6212dup (p.Leu2071fs)
|
rs2102524917
|
|
NM_206933.4(USH2A):c.6213G>A (p.Leu2071=)
|
rs2102524910
|
|
NM_206933.4(USH2A):c.6214C>T (p.Leu2072=)
|
|
|
NM_206933.4(USH2A):c.6219C>G (p.Leu2073=)
|
|
|
NM_206933.4(USH2A):c.6225G>C (p.Trp2075Cys)
|
rs1553294134
|
|
NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys)
|
rs1553294134
|
|
NM_206933.4(USH2A):c.6225_6227del (p.Trp2075_Asn2076delinsCys)
|
|
|
NM_206933.4(USH2A):c.6226A>T (p.Asn2076Tyr)
|
|
|
NM_206933.4(USH2A):c.6231A>C (p.Pro2077=)
|
|
|
NM_206933.4(USH2A):c.6233C>A (p.Pro2078His)
|
rs150230450
|
|
NM_206933.4(USH2A):c.6234del (p.Lys2080fs)
|
rs2030528716
|
|
NM_206933.4(USH2A):c.6239del (p.Lys2080fs)
|
rs1558229491
|
|
NM_206933.4(USH2A):c.6239dup (p.Ala2081fs)
|
|
|
NM_206933.4(USH2A):c.6240G>C (p.Lys2080Asn)
|
rs114402911
|
|
NM_206933.4(USH2A):c.6241G>A (p.Ala2081Thr)
|
rs1558229482
|
|
NM_206933.4(USH2A):c.6242C>T (p.Ala2081Val)
|
|
|
NM_206933.4(USH2A):c.6246T>C (p.Asn2082=)
|
rs2102524873
|
|
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
|
|
|
NM_206933.4(USH2A):c.6255_6290del (p.Thr2086_Ile2097del)
|
|
|
NM_206933.4(USH2A):c.6257C>T (p.Thr2086Ile)
|
|
|
NM_206933.4(USH2A):c.6266G>A (p.Cys2089Tyr)
|
rs2102524858
|
|
NM_206933.4(USH2A):c.6271T>A (p.Tyr2091Asn)
|
|
|
NM_206933.4(USH2A):c.6288G>C (p.Leu2096=)
|
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6293A>G (p.Tyr2098Cys)
|
rs2030525490
|
|
NM_206933.4(USH2A):c.6294T>C (p.Tyr2098=)
|
rs2102524830
|
|
NM_206933.4(USH2A):c.6303T>C (p.Ser2101=)
|
|
|
NM_206933.4(USH2A):c.630A>G (p.Lys210=)
|
|
|
NM_206933.4(USH2A):c.6321C>A (p.Val2107=)
|
|
|
NM_206933.4(USH2A):c.6325+12A>G
|
|
|
NM_206933.4(USH2A):c.6325+15G>A
|
|
|
NM_206933.4(USH2A):c.6325+1G>A
|
rs1293202153
|
|
NM_206933.4(USH2A):c.6325+4A>G
|
|
|
NM_206933.4(USH2A):c.6325+7C>A
|
rs1008199843
|
|
NM_206933.4(USH2A):c.6325+7C>T
|
|
|
NM_206933.4(USH2A):c.6326-12C>A
|
|
|
NM_206933.4(USH2A):c.6326-12C>T
|
|
|
NM_206933.4(USH2A):c.6326-13C>T
|
|
|
NM_206933.4(USH2A):c.6326-15C>T
|
|
|
NM_206933.4(USH2A):c.6326-179A>G
|
rs541458614
|
|
NM_206933.4(USH2A):c.6326-1G>A
|
rs878853411
|
|
NM_206933.4(USH2A):c.6326-1G>T
|
|
|
NM_206933.4(USH2A):c.6326-2A>G
|
rs1553287118
|
|
NM_206933.4(USH2A):c.6326-3_6332del
|
rs1553287116
|
|
NM_206933.4(USH2A):c.6326-4del
|
|
|
NM_206933.4(USH2A):c.6326-5C>T
|
|
|
NM_206933.4(USH2A):c.6326-6C>T
|
rs2102483344
|
|
NM_206933.4(USH2A):c.6326-9A>G
|
|
|
NM_206933.4(USH2A):c.6330A>G (p.Leu2110=)
|
|
|
NM_206933.4(USH2A):c.633G>T (p.Trp211Cys)
|
rs2102783738
|
|
NM_206933.4(USH2A):c.6348C>T (p.His2116=)
|
|
|
NM_206933.4(USH2A):c.6349C>T (p.Gln2117Ter)
|
|
|
NM_206933.4(USH2A):c.6357A>G (p.Leu2119=)
|
rs2102483303
|
|
NM_206933.4(USH2A):c.6360A>T (p.Leu2120=)
|
|
|
NM_206933.4(USH2A):c.6363T>C (p.Ser2121=)
|
rs2102483299
|
|
NM_206933.4(USH2A):c.6363_6364del (p.Ala2122fs)
|
|
|
NM_206933.4(USH2A):c.6366A>C (p.Ala2122=)
|
rs773734876
|
|
NM_206933.4(USH2A):c.6366A>G (p.Ala2122=)
|
rs773734876
|
|
NM_206933.4(USH2A):c.6366A>T (p.Ala2122=)
|
rs773734876
|
|
NM_206933.4(USH2A):c.6367T>C (p.Cys2123Arg)
|
rs1668244820
|
|
NM_206933.4(USH2A):c.6369C>A (p.Cys2123Ter)
|
|
|
NM_206933.4(USH2A):c.6370_6381del (p.Thr2124_Gly2127del)
|
rs1668244362
|
|
NM_206933.4(USH2A):c.6371C>A (p.Thr2124Lys)
|
rs1668244656
|
|
NM_206933.4(USH2A):c.6371C>T (p.Thr2124Ile)
|
|
|
NM_206933.4(USH2A):c.6375T>C (p.His2125=)
|
|
|
NM_206933.4(USH2A):c.6377T>C (p.Val2126Ala)
|
rs2102483279
|
|
NM_206933.4(USH2A):c.6382T>C (p.Cys2128Arg)
|
|
|
NM_206933.4(USH2A):c.6383G>A (p.Cys2128Tyr)
|
|
|
NM_206933.4(USH2A):c.6383G>C (p.Cys2128Ser)
|
rs2102483271
|
|
NM_206933.4(USH2A):c.6388A>T (p.Asn2130Tyr)
|
rs1668243915
|
|
NM_206933.4(USH2A):c.6394del (p.Ser2132fs)
|
rs1668243665
|
|
NM_206933.4(USH2A):c.6395C>T (p.Ser2132Phe)
|
|
|
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)
|
rs727503725
|
|
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter)
|
rs55958016
|
|
NM_206933.4(USH2A):c.63C>A (p.Ile21=)
|
|
|
NM_206933.4(USH2A):c.6405A>G (p.Leu2135=)
|
rs2102483229
|
|
NM_206933.4(USH2A):c.6414A>G (p.Thr2138=)
|
rs2102483220
|
|
NM_206933.4(USH2A):c.6423G>T (p.Leu2141=)
|
rs758340986
|
|
NM_206933.4(USH2A):c.6429A>G (p.Pro2143=)
|
rs2102483198
|
|
NM_206933.4(USH2A):c.642T>C (p.Leu214=)
|
rs2102783724
|
|
NM_206933.4(USH2A):c.6436G>T (p.Val2146Leu)
|
rs766466542
|
|
NM_206933.4(USH2A):c.6447A>G (p.Pro2149=)
|
rs2102483181
|
|
NM_206933.4(USH2A):c.644G>C (p.Ser215Thr)
|
rs1458851498
|
|
NM_206933.4(USH2A):c.6451del (p.Val2150_Leu2151insTer)
|
rs2102483177
|
|
NM_206933.4(USH2A):c.6453G>C (p.Leu2151=)
|
rs2102483172
|
|
NM_206933.4(USH2A):c.6459C>G (p.Val2153=)
|
|
|
NM_206933.4(USH2A):c.6462G>A (p.Leu2154=)
|
rs1558203898
|
|
NM_206933.4(USH2A):c.6474T>G (p.Thr2158=)
|
|
|
NM_206933.4(USH2A):c.6477A>C (p.Ile2159=)
|
|
|
NM_206933.4(USH2A):c.6485+10A>T
|
|
|
NM_206933.4(USH2A):c.6485+15_6485+17del
|
|
|
NM_206933.4(USH2A):c.6485+16G>A
|
|
|
NM_206933.4(USH2A):c.6485+1G>A
|
rs1553287070
|
|
NM_206933.4(USH2A):c.6485+20C>G
|
|
|
NM_206933.4(USH2A):c.6485+5G>A
|
rs1668240410
|
|
NM_206933.4(USH2A):c.6485+5del
|
|
|
NM_206933.4(USH2A):c.6485+8G>C
|
rs1428718494
|
|
NM_206933.4(USH2A):c.6486-10C>T
|
|
|
NM_206933.4(USH2A):c.6486-16A>G
|
|
|
NM_206933.4(USH2A):c.6486-17T>G
|
|
|
NM_206933.4(USH2A):c.6486-1G>A
|
rs2102482051
|
|
NM_206933.4(USH2A):c.6486-21_6486-19del
|
|
|
NM_206933.4(USH2A):c.6486-2A>G
|
|
|
NM_206933.4(USH2A):c.6486-4C>A
|
rs1386296187
|
|
NM_206933.4(USH2A):c.6486-5_6486-4delinsTT
|
|
|
NM_206933.4(USH2A):c.6486-8A>T
|
|
|
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)
|
rs397518025
|
|
NM_206933.4(USH2A):c.6488G>A (p.Trp2163Ter)
|
|
|
NM_206933.4(USH2A):c.648G>A (p.Val216=)
|
|
|
NM_206933.4(USH2A):c.648G>T (p.Val216=)
|
rs2102783704
|
|
NM_206933.4(USH2A):c.6495A>G (p.Gln2165=)
|
|
|
NM_206933.4(USH2A):c.649C>T (p.Gln217Ter)
|
|
|
NM_206933.4(USH2A):c.651+18T>A
|
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
NM_206933.4(USH2A):c.651+20_651+23del
|
|
|
NM_206933.4(USH2A):c.651+7A>C
|
|
|
NM_206933.4(USH2A):c.6510T>C (p.Ser2170=)
|
|
|
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)
|
rs373604102
|
|
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg)
|
rs1668203744
|
|
NM_206933.4(USH2A):c.6512G>A (p.Gly2171Glu)
|
|
|
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=)
|
rs876657629
|
|
NM_206933.4(USH2A):c.652-13T>C
|
|
|
NM_206933.4(USH2A):c.652-15_652-13del
|
|
|
NM_206933.4(USH2A):c.652-18G>A
|
|
|
NM_206933.4(USH2A):c.652-19T>C
|
|
|
NM_206933.4(USH2A):c.652-20A>G
|
|
|
NM_206933.4(USH2A):c.652-233_652-15delinsCATAAAACCT
|
rs2102708724
|
|
NM_206933.4(USH2A):c.652-24A>T
|
rs2102708750
|
|
NM_206933.4(USH2A):c.652-2A>G
|
rs2038569690
|
|
NM_206933.4(USH2A):c.652-7C>G
|
|
|
NM_206933.4(USH2A):c.652-8T>C
|
|
|
NM_206933.4(USH2A):c.652-8del
|
rs2102708714
|
|
NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter)
|
|
|
NM_206933.4(USH2A):c.6522A>G (p.Glu2174=)
|
|
|
NM_206933.4(USH2A):c.6523C>T (p.Arg2175Cys)
|
|
|
NM_206933.4(USH2A):c.6524_6525del (p.Arg2175fs)
|
|
|
NM_206933.4(USH2A):c.6525C>T (p.Arg2175=)
|
|
|
NM_206933.4(USH2A):c.6528T>C (p.Tyr2176=)
|
rs560847831
|
|
NM_206933.4(USH2A):c.6531A>G (p.Val2177=)
|
rs749247747
|
|
NM_206933.4(USH2A):c.6536A>G (p.Tyr2179Cys)
|
rs1668202592
|
|
NM_206933.4(USH2A):c.6538A>G (p.Met2180Val)
|
rs1433870940
|
|
NM_206933.4(USH2A):c.654G>A (p.Val218=)
|
|
|
NM_206933.4(USH2A):c.6551C>T (p.Thr2184Ile)
|
|
|
NM_206933.4(USH2A):c.6552A>G (p.Thr2184=)
|
|
|
NM_206933.4(USH2A):c.6554A>G (p.His2185Arg)
|
rs1064797135
|
|
NM_206933.4(USH2A):c.6557A>C (p.Asp2186Ala)
|
rs867309717
|
|
NM_206933.4(USH2A):c.6561T>C (p.Phe2187=)
|
|
|
NM_206933.4(USH2A):c.6564A>G (p.Thr2188=)
|
rs144892471
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|
NM_206933.4(USH2A):c.656A>T (p.His219Leu)
|
|
|
NM_206933.4(USH2A):c.6570G>A (p.Trp2190Ter)
|
rs2102481922
|
|
NM_206933.4(USH2A):c.6576C>T (p.Val2192=)
|
|
|
NM_206933.4(USH2A):c.6579C>G (p.Ile2193Met)
|
|
|
NM_206933.4(USH2A):c.6581A>G (p.Tyr2194Cys)
|
rs1553286786
|
|
NM_206933.4(USH2A):c.6585C>T (p.Asn2195=)
|
rs747276421
|
|
NM_206933.4(USH2A):c.6597T>A (p.Leu2199=)
|
rs1668199755
|
|
NM_206933.4(USH2A):c.659A>G (p.Gln220Arg)
|
rs1302699517
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.6608A>G (p.His2203Arg)
|
|
|
NM_206933.4(USH2A):c.6621C>A (p.Tyr2207Ter)
|
rs771072859
|
|
NM_206933.4(USH2A):c.6628C>T (p.Pro2210Ser)
|
|
|
NM_206933.4(USH2A):c.6630T>C (p.Pro2210=)
|
rs2102481814
|
|
NM_206933.4(USH2A):c.6632G>T (p.Gly2211Val)
|
|
|
NM_206933.4(USH2A):c.6633T>C (p.Gly2211=)
|
rs1187248993
|
|
NM_206933.4(USH2A):c.6636T>C (p.Asn2212=)
|
rs2102481804
|
|
NM_206933.4(USH2A):c.6639A>G (p.Lys2213=)
|
rs1487136272
|
|
NM_206933.4(USH2A):c.663A>G (p.Thr221=)
|
rs557350284
|
|
NM_206933.4(USH2A):c.6642T>A (p.Tyr2214Ter)
|
|
|
NM_206933.4(USH2A):c.6646A>C (p.Ile2216Leu)
|
|
|
NM_206933.4(USH2A):c.6648C>T (p.Ile2216=)
|
rs2102481788
|
|
NM_206933.4(USH2A):c.6653T>C (p.Leu2218Pro)
|
|
|
NM_206933.4(USH2A):c.6657+100del
|
rs140899702
|
|
NM_206933.4(USH2A):c.6657+10T>C
|
|
|
NM_206933.4(USH2A):c.6657+123G>A
|
rs28588034
|
|
NM_206933.4(USH2A):c.6657+12T>C
|
|
|
NM_206933.4(USH2A):c.6657+14C>T
|
|
|
NM_206933.4(USH2A):c.6657+15_6657+16del
|
|
|
NM_206933.4(USH2A):c.6657+17C>T
|
|
|
NM_206933.4(USH2A):c.6657+19C>T
|
|
|
NM_206933.4(USH2A):c.6657+1G>A
|
rs1571876788
|
|
NM_206933.4(USH2A):c.6657+202dup
|
rs138109851
|
|
NM_206933.4(USH2A):c.6657+2T>G
|
rs2102481774
|
|
NM_206933.4(USH2A):c.6658-11T>A
|
|
|
NM_206933.4(USH2A):c.6658-16T>G
|
|
|
NM_206933.4(USH2A):c.6658-19T>A
|
|
|
NM_206933.4(USH2A):c.6658-6G>C
|
|
|
NM_206933.4(USH2A):c.6658-7dup
|
|
|
NM_206933.4(USH2A):c.6662G>A (p.Cys2221Tyr)
|
|
|
NM_206933.4(USH2A):c.6663C>T (p.Cys2221=)
|
rs1668046134
|
|
NM_206933.4(USH2A):c.6669T>G (p.Gly2223=)
|
rs2102476841
|
|
NM_206933.4(USH2A):c.6671del (p.Gly2224fs)
|
|
|
NM_206933.4(USH2A):c.6677G>A (p.Cys2226Tyr)
|
rs562492049
|
|
NM_206933.4(USH2A):c.6686G>A (p.Ser2229Asn)
|
|
|
NM_206933.4(USH2A):c.6687T>C (p.Ser2229=)
|
rs926930916
|
|
NM_206933.4(USH2A):c.6690G>A (p.Glu2230=)
|
|
|
NM_206933.4(USH2A):c.6695G>A (p.Ser2232Asn)
|
|
|
NM_206933.4(USH2A):c.6698A>C (p.Glu2233Ala)
|
|
|
NM_206933.4(USH2A):c.6701C>A (p.Ala2234Asp)
|
rs1249318716
|
|
NM_206933.4(USH2A):c.6702C>T (p.Ala2234=)
|
|
|
NM_206933.4(USH2A):c.6705_6708del (p.Asp2237fs)
|
|
|
NM_206933.4(USH2A):c.6706del (p.Thr2236fs)
|
|
|
NM_206933.4(USH2A):c.6708T>C (p.Thr2236=)
|
rs2102476778
|
|
NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs)
|
rs1553285944
|
|
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.6711C>G (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.6711C>T (p.Asp2237=)
|
rs138959688
|
|
NM_206933.4(USH2A):c.6712_6722del (p.Glu2238fs)
|
|
|
NM_206933.4(USH2A):c.6713_6714delinsCA (p.Glu2238Ala)
|
|
|
NM_206933.4(USH2A):c.6721C>A (p.Pro2241Thr)
|
|
|
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6724G>T (p.Glu2242Ter)
|
|
|
NM_206933.4(USH2A):c.6726A>G (p.Glu2242=)
|
|
|
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)
|
rs201526850
|
|
NM_206933.4(USH2A):c.6729C>A (p.Gly2243=)
|
|
|
NM_206933.4(USH2A):c.672C>A (p.Ser224Arg)
|
rs1571744237
|
|
NM_206933.4(USH2A):c.672C>T (p.Ser224=)
|
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6737C>A (p.Ala2246Asp)
|
|
|
NM_206933.4(USH2A):c.6738C>A (p.Ala2246=)
|
rs753800541
|
|
NM_206933.4(USH2A):c.6741C>G (p.Pro2247=)
|
|
|
NM_206933.4(USH2A):c.6741C>T (p.Pro2247=)
|
rs766287712
|
|
NM_206933.4(USH2A):c.6744A>G (p.Lys2248=)
|
|
|
NM_206933.4(USH2A):c.6747C>T (p.Ala2249=)
|
|
|
NM_206933.4(USH2A):c.6749A>G (p.His2250Arg)
|
|
|
NM_206933.4(USH2A):c.6750C>T (p.His2250=)
|
rs2102476682
|
|
NM_206933.4(USH2A):c.6752C>G (p.Ser2251Ter)
|
|
|
NM_206933.4(USH2A):c.6752C>T (p.Ser2251Leu)
|
rs1302722012
|
|
NM_206933.4(USH2A):c.6759A>G (p.Ser2253=)
|
|
|
NM_206933.4(USH2A):c.675_678del (p.Phe225fs)
|
rs2102708663
|
|
NM_206933.4(USH2A):c.6767C>T (p.Ser2256Phe)
|
|
|
NM_206933.4(USH2A):c.6768C>G (p.Ser2256=)
|
|
|
NM_206933.4(USH2A):c.6772A>G (p.Asn2258Asp)
|
rs2102476660
|
|
NM_206933.4(USH2A):c.6777C>A (p.Val2259=)
|
|
|
NM_206933.4(USH2A):c.6777C>T (p.Val2259=)
|
rs2102476658
|
|
NM_206933.4(USH2A):c.6782G>A (p.Trp2261Ter)
|
rs2102476647
|
|
NM_206933.4(USH2A):c.6785C>G (p.Thr2262Ser)
|
rs2102476644
|
|
NM_206933.4(USH2A):c.6788A>C (p.Glu2263Ala)
|
|
|
NM_206933.4(USH2A):c.6789G>A (p.Glu2263=)
|
|
|
NM_206933.4(USH2A):c.6790C>G (p.Pro2264Ala)
|
|
|
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
|
rs727503723
|
|
NM_206933.4(USH2A):c.6801G>T (p.Pro2267=)
|
|
|
NM_206933.4(USH2A):c.6804T>A (p.Asn2268Lys)
|
|
|
NM_206933.4(USH2A):c.6805+10C>T
|
|
|
NM_206933.4(USH2A):c.6805+15T>C
|
|
|
NM_206933.4(USH2A):c.6805+15_6805+16del
|
|
|
NM_206933.4(USH2A):c.6805+19C>A
|
|
|
NM_206933.4(USH2A):c.6805+1G>T
|
rs1553285919
|
|
NM_206933.4(USH2A):c.6805+20C>T
|
|
|
NM_206933.4(USH2A):c.6805G>A (p.Gly2269Ser)
|
rs1668037260
|
|
NM_206933.4(USH2A):c.6805G>C (p.Gly2269Arg)
|
rs1668037260
|
|
NM_206933.4(USH2A):c.6805G>T (p.Gly2269Cys)
|
rs1668037260
|
|
NM_206933.4(USH2A):c.6806-117_6806-116del
|
rs10569124
|
|
NM_206933.4(USH2A):c.6806-11T>C
|
|
|
NM_206933.4(USH2A):c.6806-16A>G
|
|
|
NM_206933.4(USH2A):c.6806-19G>A
|
|
|
NM_206933.4(USH2A):c.6806-2A>G
|
rs765217736
|
|
NM_206933.4(USH2A):c.6806-31_6806-20del
|
|
|
NM_206933.4(USH2A):c.6806-3C>A
|
|
|
NM_206933.4(USH2A):c.6806G>C (p.Gly2269Ala)
|
rs1376970919
|
|
NM_206933.4(USH2A):c.681C>A (p.Ile227=)
|
|
|
NM_206933.4(USH2A):c.6822T>C (p.Tyr2274=)
|
|
|
NM_206933.4(USH2A):c.6834A>G (p.Leu2278=)
|
rs1287657130
|
|
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)
|
rs1421761057
|
|
NM_206933.4(USH2A):c.6837T>C (p.Asp2279=)
|
|
|
NM_206933.4(USH2A):c.6839G>A (p.Gly2280Asp)
|
rs200437181
|
|
NM_206933.4(USH2A):c.683A>G (p.Asn228Ser)
|
|
|
NM_206933.4(USH2A):c.6846A>G (p.Leu2282=)
|
rs1340194602
|
|
NM_206933.4(USH2A):c.6859_6860dup (p.Glu2288fs)
|
|
|
NM_206933.4(USH2A):c.6873T>C (p.Tyr2291=)
|
|
|
NM_206933.4(USH2A):c.6877_6878delinsTT (p.Ala2293Phe)
|
rs2102458427
|
|
NM_206933.4(USH2A):c.687C>A (p.Gly229=)
|
rs766740504
|
|
NM_206933.4(USH2A):c.687C>G (p.Gly229=)
|
rs766740504
|
|
NM_206933.4(USH2A):c.687C>T (p.Gly229=)
|
|
|
NM_206933.4(USH2A):c.6887T>A (p.Phe2296Tyr)
|
|
|
NM_206933.4(USH2A):c.688G>T (p.Val230Leu)
|
|
|
NM_206933.4(USH2A):c.6895_6896delinsGA (p.Trp2299Glu)
|
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6903del (p.Leu2301fs)
|
|
|
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
|
rs1667472317
|
|
NM_206933.4(USH2A):c.6905del (p.His2302fs)
|
rs2102458388
|
|
NM_206933.4(USH2A):c.6912C>T (p.Phe2304=)
|
rs2102458380
|
|
NM_206933.4(USH2A):c.6915A>G (p.Arg2305=)
|
|
|
NM_206933.4(USH2A):c.6918C>A (p.Val2306=)
|
|
|
NM_206933.4(USH2A):c.6921A>G (p.Gln2307=)
|
|
|
NM_206933.4(USH2A):c.6923C>A (p.Ala2308Glu)
|
|
|
NM_206933.4(USH2A):c.6925T>C (p.Cys2309Arg)
|
|
|
NM_206933.4(USH2A):c.6928A>G (p.Thr2310Ala)
|
|
|
NM_206933.4(USH2A):c.6929C>G (p.Thr2310Arg)
|
|
|
NM_206933.4(USH2A):c.6930G>C (p.Thr2310=)
|
|
|
NM_206933.4(USH2A):c.6930G>T (p.Thr2310=)
|
rs146406377
|
|
NM_206933.4(USH2A):c.6931del (p.Ala2311fs)
|
rs1667471296
|
|
NM_206933.4(USH2A):c.6932C>T (p.Ala2311Val)
|
rs1273975195
|
|
NM_206933.4(USH2A):c.6934A>C (p.Lys2312Gln)
|
rs1393581129
|
|
NM_206933.4(USH2A):c.6937G>A (p.Gly2313Ser)
|
|
|
NM_206933.4(USH2A):c.6937G>C (p.Gly2313Arg)
|
|
|
NM_206933.4(USH2A):c.6949G>C (p.Gly2317Arg)
|
rs2102458324
|
|
NM_206933.4(USH2A):c.6951C>A (p.Gly2317=)
|
|
|
NM_206933.4(USH2A):c.6957+13A>T
|
|
|
NM_206933.4(USH2A):c.6957+1G>C
|
rs2102458321
|
|
NM_206933.4(USH2A):c.6957+8T>C
|
|
|
NM_206933.4(USH2A):c.6957+9C>T
|
rs1667470197
|
|
NM_206933.4(USH2A):c.6958-16C>A
|
|
|
NM_206933.4(USH2A):c.6958-16C>T
|
|
|
NM_206933.4(USH2A):c.6958-16del
|
|
|
NM_206933.4(USH2A):c.6958-17T>A
|
rs2102454050
|
|
NM_206933.4(USH2A):c.6958-3C>T
|
|
|
NM_206933.4(USH2A):c.6958-5C>A
|
rs147914083
|
|
NM_206933.4(USH2A):c.6958-7C>T
|
|
|
NM_206933.4(USH2A):c.6958-8A>C
|
rs769264662
|
|
NM_206933.4(USH2A):c.6958-9T>C
|
|
|
NM_206933.4(USH2A):c.6963A>C (p.Glu2321Asp)
|
rs1667319307
|
|
NM_206933.4(USH2A):c.6968G>C (p.Arg2323Pro)
|
rs772014718
|
|
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile)
|
rs1667318951
|
|
NM_206933.4(USH2A):c.6975A>G (p.Leu2325=)
|
rs2102453998
|
|
NM_206933.4(USH2A):c.6981T>G (p.Ala2327=)
|
|
|
NM_206933.4(USH2A):c.6986C>T (p.Pro2329Leu)
|
|
|
NM_206933.4(USH2A):c.698del (p.Asp233fs)
|
|
|
NM_206933.4(USH2A):c.6990del (p.Gly2331fs)
|
rs1667318047
|
|
NM_206933.4(USH2A):c.6992G>A (p.Gly2331Glu)
|
|
|
NM_206933.4(USH2A):c.69C>T (p.Ala23=)
|
rs2102789190
|
|
NM_206933.4(USH2A):c.69del (p.Tyr24fs)
|
rs2102789194
|
|
NM_206933.4(USH2A):c.7002T>C (p.Asn2334=)
|
rs767954801
|
|
NM_206933.4(USH2A):c.7005G>A (p.Val2335=)
|
|
|
NM_206933.4(USH2A):c.7005G>C (p.Val2335=)
|
|
|
NM_206933.4(USH2A):c.7023dup (p.Ser2342fs)
|
rs1667317168
|
|
NM_206933.4(USH2A):c.7025C>T (p.Ser2342Phe)
|
rs1187620613
|
|
NM_206933.4(USH2A):c.7026C>G (p.Ser2342=)
|
rs2102453938
|
|
NM_206933.4(USH2A):c.7027C>G (p.Arg2343Gly)
|
|
|
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
|
rs1667316878
|
|
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
|
|
|
NM_206933.4(USH2A):c.7034_7035insTT (p.His2346fs)
|
|
|
NM_206933.4(USH2A):c.7048G>A (p.Glu2350Lys)
|
|
|
NM_206933.4(USH2A):c.7049_7053del (p.Glu2350fs)
|
|
|
NM_206933.4(USH2A):c.7059del (p.Arg2354fs)
|
|
|
NM_206933.4(USH2A):c.7060C>A (p.Arg2354Ser)
|
rs111033508
|
|
NM_206933.4(USH2A):c.7061G>C (p.Arg2354Pro)
|
rs201386640
|
|
NM_206933.4(USH2A):c.7064C>T (p.Pro2355Leu)
|
|
|
NM_206933.4(USH2A):c.7065T>C (p.Pro2355=)
|
|
|
NM_206933.4(USH2A):c.7068T>C (p.Asn2356=)
|
rs200038092
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
NM_206933.4(USH2A):c.7073T>C (p.Leu2358Pro)
|
rs1315033828
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
NM_206933.4(USH2A):c.7076T>A (p.Leu2359Ter)
|
|
|
NM_206933.4(USH2A):c.7077_7078del (p.Leu2359fs)
|
|
|
NM_206933.4(USH2A):c.707C>A (p.Pro236His)
|
|
|
NM_206933.4(USH2A):c.7080A>G (p.Thr2360=)
|
rs2102453826
|
|
NM_206933.4(USH2A):c.7083C>T (p.His2361=)
|
|
|
NM_206933.4(USH2A):c.7086A>G (p.Ser2362=)
|
rs1667313876
|
|
NM_206933.4(USH2A):c.7087G>A (p.Val2363Ile)
|
|
|
NM_206933.4(USH2A):c.7098T>C (p.Thr2366=)
|
|
|
NM_206933.4(USH2A):c.7098T>G (p.Thr2366=)
|
rs1667313204
|
|
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu)
|
rs1017425051
|
|
NM_206933.4(USH2A):c.7113A>C (p.Val2371=)
|
rs2102453763
|
|
NM_206933.4(USH2A):c.7113A>G (p.Val2371=)
|
|
|
NM_206933.4(USH2A):c.7118del (p.Pro2373fs)
|
rs2102453751
|
|
NM_206933.4(USH2A):c.711C>T (p.Phe237=)
|
|
|
NM_206933.4(USH2A):c.7120+10T>C
|
|
|
NM_206933.4(USH2A):c.7120+11T>C
|
|
|
NM_206933.4(USH2A):c.7120+13del
|
|
|
NM_206933.4(USH2A):c.7120+17T>A
|
|
|
NM_206933.4(USH2A):c.7120+19C>A
|
|
|
NM_206933.4(USH2A):c.7120+1G>A
|
rs1667311758
|
|
NM_206933.4(USH2A):c.7120+9T>C
|
rs1047577573
|
|
NM_206933.4(USH2A):c.7121-12T>C
|
|
|
NM_206933.4(USH2A):c.7121-14del
|
rs536181325
|
|
NM_206933.4(USH2A):c.7121-15T>G
|
|
|
NM_206933.4(USH2A):c.7121-1G>T
|
rs2102499826
|
|
NM_206933.4(USH2A):c.7121-5A>G
|
|
|
NM_206933.4(USH2A):c.7121-8T>C
|
rs2102499836
|
|
NM_206933.4(USH2A):c.7123G>A (p.Gly2375Ser)
|
rs1381251611
|
|
NM_206933.4(USH2A):c.7124G>T (p.Gly2375Val)
|
|
|
NM_206933.4(USH2A):c.7128T>C (p.Asn2376=)
|
rs1666453519
|
|
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs)
|
rs1553277866
|
|
NM_206933.4(USH2A):c.7137C>G (p.Thr2379=)
|
|
|
NM_206933.4(USH2A):c.7139_7140del (p.Leu2380fs)
|
rs2102499800
|
|
NM_206933.4(USH2A):c.713A>G (p.Asn238Ser)
|
|
|
NM_206933.4(USH2A):c.7151C>G (p.Thr2384Arg)
|
|
|
NM_206933.4(USH2A):c.7156G>A (p.Val2386Ile)
|
|
|
NM_206933.4(USH2A):c.7156G>C (p.Val2386Leu)
|
rs199825458
|
|
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)
|
rs376983577
|
|
NM_206933.4(USH2A):c.7171G>A (p.Glu2391Lys)
|
|
|
NM_206933.4(USH2A):c.7174G>A (p.Glu2392Lys)
|
|
|
NM_206933.4(USH2A):c.7174G>T (p.Glu2392Ter)
|
rs1192539262
|
|
NM_206933.4(USH2A):c.7176G>A (p.Glu2392=)
|
|
|
NM_206933.4(USH2A):c.7179A>C (p.Thr2393=)
|
|
|
NM_206933.4(USH2A):c.717A>C (p.Ala239=)
|
|
|
NM_206933.4(USH2A):c.7182C>T (p.Asn2394=)
|
|
|
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs)
|
rs2102499717
|
|
NM_206933.4(USH2A):c.7188G>A (p.Trp2396Ter)
|
|
|
NM_206933.4(USH2A):c.7188G>T (p.Trp2396Cys)
|
rs2102499727
|
|
NM_206933.4(USH2A):c.7194C>T (p.Leu2398=)
|
rs1269441158
|
|
NM_206933.4(USH2A):c.7198G>A (p.Asp2400Asn)
|
|
|
NM_206933.4(USH2A):c.7200T>C (p.Asp2400=)
|
|
|
NM_206933.4(USH2A):c.7203G>A (p.Gly2401=)
|
|
|
NM_206933.4(USH2A):c.7203G>T (p.Gly2401=)
|
rs769558676
|
|
NM_206933.4(USH2A):c.7206G>C (p.Leu2402=)
|
rs201731826
|
|
NM_206933.4(USH2A):c.7216del (p.Thr2406fs)
|
rs2102499681
|
|
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro)
|
rs2102499658
|
|
NM_206933.4(USH2A):c.7227T>A (p.Thr2409=)
|
|
|
NM_206933.4(USH2A):c.7227T>G (p.Thr2409=)
|
|
|
NM_206933.4(USH2A):c.7230A>G (p.Val2410=)
|
|
|
NM_206933.4(USH2A):c.7231C>T (p.Gln2411Ter)
|
rs755693369
|
|
NM_206933.4(USH2A):c.7233A>G (p.Gln2411=)
|
|
|
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr)
|
rs780840434
|
|
NM_206933.4(USH2A):c.7238A>G (p.Asn2413Ser)
|
|
|
NM_206933.4(USH2A):c.723T>G (p.Thr241=)
|
|
|
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)
|
rs397518029
|
|
NM_206933.4(USH2A):c.7245A>C (p.Ser2415=)
|
|
|
NM_206933.4(USH2A):c.7245A>G (p.Ser2415=)
|
|
|
NM_206933.4(USH2A):c.7248T>G (p.Asn2416Lys)
|
|
|
NM_206933.4(USH2A):c.724C>T (p.Leu242=)
|
rs2102708548
|
|
NM_206933.4(USH2A):c.7257C>A (p.Gly2419=)
|
rs752602824
|
|
NM_206933.4(USH2A):c.725T>C (p.Leu242Pro)
|
rs1263555097
|
|
NM_206933.4(USH2A):c.725dup (p.Ser243fs)
|
rs1195779037
|
|
NM_206933.4(USH2A):c.7269T>A (p.Thr2423=)
|
rs1481276143
|
|
NM_206933.4(USH2A):c.726A>G (p.Leu242=)
|
|
|
NM_206933.4(USH2A):c.7275T>C (p.Pro2425=)
|
rs1413376710
|
|
NM_206933.4(USH2A):c.7275_7276delinsAG (p.Ile2426Val)
|
|
|
NM_206933.4(USH2A):c.7276A>C (p.Ile2426Leu)
|
|
|
NM_206933.4(USH2A):c.7280C>A (p.Thr2427Lys)
|
rs1666445042
|
|
NM_206933.4(USH2A):c.7297G>A (p.Gly2433Arg)
|
rs1281049882
|
|
NM_206933.4(USH2A):c.72T>C (p.Tyr24=)
|
rs1395893164
|
|
NM_206933.4(USH2A):c.7300+10T>C
|
|
|
NM_206933.4(USH2A):c.7300+14A>C
|
rs541755841
|
|
NM_206933.4(USH2A):c.7300+15A>T
|
|
|
NM_206933.4(USH2A):c.7300+16T>A
|
|
|
NM_206933.4(USH2A):c.7300+17G>A
|
rs1172521480
|
|
NM_206933.4(USH2A):c.7300+17G>C
|
|
|
NM_206933.4(USH2A):c.7300+1G>T
|
|
|
NM_206933.4(USH2A):c.7300+5G>T
|
|
|
NM_206933.4(USH2A):c.7300+7C>G
|
|
|
NM_206933.4(USH2A):c.7300+8T>A
|
rs2102499521
|
|
NM_206933.4(USH2A):c.7300+9A>G
|
rs772254158
|
|
NM_206933.4(USH2A):c.7301-15T>C
|
|
|
NM_206933.4(USH2A):c.7301-17T>C
|
|
|
NM_206933.4(USH2A):c.7301-18A>C
|
|
|
NM_206933.4(USH2A):c.7301-19C>G
|
|
|
NM_206933.4(USH2A):c.7301-2A>C
|
|
|
NM_206933.4(USH2A):c.7301-9T>G
|
|
|
NM_206933.4(USH2A):c.7305A>G (p.Pro2435=)
|
|
|
NM_206933.4(USH2A):c.7305dup (p.Asp2436fs)
|
|
|
NM_206933.4(USH2A):c.731G>A (p.Gly244Asp)
|
rs2102708519
|
|
NM_206933.4(USH2A):c.7321C>G (p.Pro2441Ala)
|
|
|
NM_206933.4(USH2A):c.7326G>A (p.Arg2442=)
|
rs1237655273
|
|
NM_206933.4(USH2A):c.7327C>G (p.Leu2443Val)
|
|
|
NM_206933.4(USH2A):c.7328T>G (p.Leu2443Arg)
|
|
|
NM_206933.4(USH2A):c.732T>C (p.Gly244=)
|
rs576466805
|
|
NM_206933.4(USH2A):c.732T>G (p.Gly244=)
|
rs576466805
|
|
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del)
|
rs1665478442
|
|
NM_206933.4(USH2A):c.7344A>G (p.Pro2448=)
|
|
|
NM_206933.4(USH2A):c.7347C>T (p.Thr2449=)
|
|
|
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
|
|
|
NM_206933.4(USH2A):c.7350T>C (p.Ser2450=)
|
rs1208932875
|
|
NM_206933.4(USH2A):c.7353T>G (p.Leu2451=)
|
|
|
NM_206933.4(USH2A):c.7356G>A (p.Gln2452=)
|
rs1440336117
|
|
NM_206933.4(USH2A):c.7364G>A (p.Trp2455Ter)
|
|
|
NM_206933.4(USH2A):c.736A>G (p.Ile246Val)
|
rs746975879
|
|
NM_206933.4(USH2A):c.736A>T (p.Ile246Phe)
|
|
|
NM_206933.4(USH2A):c.7374A>G (p.Pro2458=)
|
rs1665476939
|
|
NM_206933.4(USH2A):c.738dup (p.Thr247fs)
|
|
|
NM_206933.4(USH2A):c.7392T>C (p.Pro2464=)
|
rs984249592
|
|
NM_206933.4(USH2A):c.7392T>G (p.Pro2464=)
|
rs984249592
|
|
NM_206933.4(USH2A):c.7395C>A (p.Gly2465=)
|
|
|
NM_206933.4(USH2A):c.7395C>G (p.Gly2465=)
|
rs1359997176
|
|
NM_206933.4(USH2A):c.7397C>G (p.Ser2466Cys)
|
rs1665475399
|
|
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe)
|
rs1665475399
|
|
NM_206933.4(USH2A):c.7398T>C (p.Ser2466=)
|
|
|
NM_206933.4(USH2A):c.7400C>T (p.Pro2467Leu)
|
rs2102470160
|
|
NM_206933.4(USH2A):c.7401C>G (p.Pro2467=)
|
rs2102470158
|
|
NM_206933.4(USH2A):c.7410A>G (p.Gln2470=)
|
rs2102470155
|
|
NM_206933.4(USH2A):c.7412T>G (p.Leu2471Arg)
|
rs1290644032
|
|
NM_206933.4(USH2A):c.7414C>T (p.Gln2472Ter)
|
rs2102470145
|
|
NM_206933.4(USH2A):c.741A>G (p.Thr247=)
|
rs2102708498
|
|
NM_206933.4(USH2A):c.7428C>A (p.Gly2476=)
|
rs150372183
|
|
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=)
|
rs150372183
|
|
NM_206933.4(USH2A):c.7434C>A (p.Ser2478=)
|
|
|
NM_206933.4(USH2A):c.7434C>T (p.Ser2478=)
|
rs369761918
|
|
NM_206933.4(USH2A):c.7451+12A>G
|
|
|
NM_206933.4(USH2A):c.7451+17G>A
|
|
|
NM_206933.4(USH2A):c.7451+18T>C
|
|
|
NM_206933.4(USH2A):c.7451+1G>A
|
rs541848371
|
|
NM_206933.4(USH2A):c.7451+1G>T
|
|
|
NM_206933.4(USH2A):c.7451+20C>T
|
|
|
NM_206933.4(USH2A):c.7451+2T>A
|
rs2102470099
|
|
NM_206933.4(USH2A):c.7451+7A>T
|
|
|
NM_206933.4(USH2A):c.7452-11T>C
|
|
|
NM_206933.4(USH2A):c.7452-13_7452-10del
|
rs2102469668
|
|
NM_206933.4(USH2A):c.7452-17A>G
|
|
|
NM_206933.4(USH2A):c.7452-4A>G
|
rs1571794744
|
|
NM_206933.4(USH2A):c.7452-6A>G
|
|
|
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter)
|
rs2102469649
|
|
NM_206933.4(USH2A):c.7454T>C (p.Leu2485Ser)
|
rs2102469649
|
|
NM_206933.4(USH2A):c.7455A>G (p.Leu2485=)
|
|
|
NM_206933.4(USH2A):c.745T>G (p.Phe249Val)
|
|
|
NM_206933.4(USH2A):c.7468_7470del (p.Ser2490del)
|
rs755325541
|
|
NM_206933.4(USH2A):c.7468del (p.Ser2490fs)
|
rs1665453379
|
|
NM_206933.4(USH2A):c.7470T>C (p.Ser2490=)
|
|
|
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)
|
rs483353056
|
|
NM_206933.4(USH2A):c.747del (p.Phe249fs)
|
|
|
NM_206933.4(USH2A):c.7491G>A (p.Val2497=)
|
rs142143100
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)
|
rs1558151555
|
|
NM_206933.4(USH2A):c.7502A>G (p.Gln2501Arg)
|
|
|
NM_206933.4(USH2A):c.7503A>G (p.Gln2501=)
|
rs768261072
|
|
NM_206933.4(USH2A):c.7505C>T (p.Pro2502Leu)
|
|
|
NM_206933.4(USH2A):c.750A>C (p.Ala250=)
|
rs1249830634
|
|
NM_206933.4(USH2A):c.750A>G (p.Ala250=)
|
rs1249830634
|
|
NM_206933.4(USH2A):c.7512A>C (p.Thr2504=)
|
|
|
NM_206933.4(USH2A):c.7515G>A (p.Glu2505=)
|
rs2102469562
|
|
NM_206933.4(USH2A):c.7518T>C (p.Tyr2506=)
|
|
|
NM_206933.4(USH2A):c.7520T>C (p.Met2507Thr)
|
rs745836040
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
|
|
|
NM_206933.4(USH2A):c.7527G>A (p.Arg2509=)
|
|
|
NM_206933.4(USH2A):c.7527G>T (p.Arg2509=)
|
rs575939496
|
|
NM_206933.4(USH2A):c.7536C>T (p.Ala2512=)
|
rs2102469530
|
|
NM_206933.4(USH2A):c.7554T>C (p.Ser2518=)
|
rs778898550
|
|
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)
|
rs1553274424
|
|
NM_206933.4(USH2A):c.7569G>A (p.Trp2523Ter)
|
rs2102469493
|
|
NM_206933.4(USH2A):c.7572T>A (p.Ile2524=)
|
rs150880091
|
|
NM_206933.4(USH2A):c.757A>G (p.Thr253Ala)
|
|
|
NM_206933.4(USH2A):c.7585G>A (p.Ala2529Thr)
|
|
|
NM_206933.4(USH2A):c.758C>T (p.Thr253Ile)
|
|
|
NM_206933.4(USH2A):c.7593C>T (p.Asp2531=)
|
rs1665448175
|
|
NM_206933.4(USH2A):c.7594+15C>T
|
|
|
NM_206933.4(USH2A):c.7594+20C>T
|
|
|
NM_206933.4(USH2A):c.7594+56_7594+64del
|
rs374145881
|
|
NM_206933.4(USH2A):c.7594+7G>T
|
rs2102469449
|
|
NM_206933.4(USH2A):c.7594+9T>C
|
rs2102469445
|
|
NM_206933.4(USH2A):c.7594A>T (p.Lys2532Ter)
|
rs2102469461
|
|
NM_206933.4(USH2A):c.7595-110del
|
rs75163086
|
|
NM_206933.4(USH2A):c.7595-12T>C
|
|
|
NM_206933.4(USH2A):c.7595-13_7595-9del
|
|
|
NM_206933.4(USH2A):c.7595-16T>C
|
rs2102460729
|
|
NM_206933.4(USH2A):c.7595-19G>A
|
|
|
NM_206933.4(USH2A):c.7595-1G>T
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-20G>A
|
|
|
NM_206933.4(USH2A):c.7595-2420C>T
|
rs12408624
|
|
NM_206933.4(USH2A):c.7595-296del
|
rs201528904
|
|
NM_206933.4(USH2A):c.7595-2A>G
|
rs1064795047
|
|
NM_206933.4(USH2A):c.7595-3_7596delinsGAGAG
|
|
|
NM_206933.4(USH2A):c.7595-5T>A
|
|
|
NM_206933.4(USH2A):c.7595-7T>C
|
|
|
NM_206933.4(USH2A):c.7597C>T (p.Pro2533Ser)
|
|
|
NM_206933.4(USH2A):c.75T>C (p.Phe25=)
|
|
|
NM_206933.4(USH2A):c.7602A>G (p.Gly2534=)
|
|
|
NM_206933.4(USH2A):c.7605del (p.Pro2535_Val2536insTer)
|
|
|
NM_206933.4(USH2A):c.7609G>A (p.Val2537Ile)
|
|
|
NM_206933.4(USH2A):c.7617G>T (p.Pro2539=)
|
|
|
NM_206933.4(USH2A):c.7620del (p.Leu2541fs)
|
rs1553273412
|
|
NM_206933.4(USH2A):c.7622T>C (p.Leu2541Pro)
|
|
|
NM_206933.4(USH2A):c.7624C>T (p.Leu2542=)
|
rs2102460674
|
|
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=)
|
rs577063450
|
|
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu)
|
rs774559456
|
|
NM_206933.4(USH2A):c.7633A>T (p.Lys2545Ter)
|
rs774559456
|
|
NM_206933.4(USH2A):c.7637C>A (p.Ser2546Ter)
|
|
|
NM_206933.4(USH2A):c.7637del (p.Lys2545_Ser2546insTer)
|
|
|
NM_206933.4(USH2A):c.763C>A (p.Gln255Lys)
|
rs2038566435
|
|
NM_206933.4(USH2A):c.763C>T (p.Gln255Ter)
|
|
|
NM_206933.4(USH2A):c.7642A>G (p.Met2548Val)
|
rs2102460660
|
|
NM_206933.4(USH2A):c.7648T>C (p.Leu2550=)
|
rs1163479120
|
|
NM_206933.4(USH2A):c.764A>C (p.Gln255Pro)
|
rs2038566369
|
|
NM_206933.4(USH2A):c.7656C>T (p.Thr2552=)
|
|
|
NM_206933.4(USH2A):c.7657T>A (p.Trp2553Arg)
|
|
|
NM_206933.4(USH2A):c.7659G>A (p.Trp2553Ter)
|
|
|
NM_206933.4(USH2A):c.7670G>A (p.Arg2557Lys)
|
|
|
NM_206933.4(USH2A):c.7673A>T (p.Lys2558Ile)
|
|
|
NM_206933.4(USH2A):c.7677C>T (p.Ser2559=)
|
|
|
NM_206933.4(USH2A):c.7683G>A (p.Gly2561=)
|
|
|
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe)
|
rs397518033
|
|
NM_206933.4(USH2A):c.7686T>G (p.Val2562=)
|
|
|
NM_206933.4(USH2A):c.768A>C (p.Ile256=)
|
rs1571744045
|
|
NM_206933.4(USH2A):c.769G>A (p.Gly257Arg)
|
|
|
NM_206933.4(USH2A):c.7704T>C (p.Ile2568=)
|
|
|
NM_206933.4(USH2A):c.770G>T (p.Gly257Val)
|
|
|
NM_206933.4(USH2A):c.7713_7724del (p.Gly2572_Tyr2575del)
|
|
|
NM_206933.4(USH2A):c.7716C>T (p.Gly2572=)
|
|
|
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His)
|
rs189748047
|
|
NM_206933.4(USH2A):c.7718G>C (p.Arg2573Pro)
|
rs189748047
|
|
NM_206933.4(USH2A):c.7725C>T (p.Tyr2575=)
|
rs768408713
|
|
NM_206933.4(USH2A):c.7729A>G (p.Arg2577Gly)
|
|
|
NM_206933.4(USH2A):c.772C>G (p.Gln258Glu)
|
|
|
NM_206933.4(USH2A):c.7743T>C (p.Asn2581=)
|
|
|
NM_206933.4(USH2A):c.7746C>T (p.Val2582=)
|
rs2102460525
|
|
NM_206933.4(USH2A):c.7752T>C (p.Asn2584=)
|
rs2102460520
|
|
NM_206933.4(USH2A):c.7758A>G (p.Thr2586=)
|
rs1460232819
|
|
NM_206933.4(USH2A):c.775_776del (p.Ser259fs)
|
rs2038566220
|
|
NM_206933.4(USH2A):c.7761G>A (p.Val2587=)
|
rs2102460513
|
|
NM_206933.4(USH2A):c.7770A>G (p.Leu2590=)
|
rs1665138334
|
|
NM_206933.4(USH2A):c.7771C>T (p.His2591Tyr)
|
rs758792302
|
|
NM_206933.4(USH2A):c.7773C>T (p.His2591=)
|
|
|
NM_206933.4(USH2A):c.7774C>G (p.Pro2592Ala)
|
rs1665138203
|
|
NM_206933.4(USH2A):c.7788T>C (p.Tyr2596=)
|
|
|
NM_206933.4(USH2A):c.7788_7799delinsA (p.Tyr2596_Val2600delinsTer)
|
|
|
NM_206933.4(USH2A):c.7800A>G (p.Val2600=)
|
|
|
NM_206933.4(USH2A):c.7803A>C (p.Glu2601Asp)
|
|
|
NM_206933.4(USH2A):c.7804G>C (p.Ala2602Pro)
|
rs1253043440
|
|
NM_206933.4(USH2A):c.7805C>A (p.Ala2602Asp)
|
|
|
NM_206933.4(USH2A):c.7805C>G (p.Ala2602Gly)
|
|
|
NM_206933.4(USH2A):c.7808G>T (p.Cys2603Phe)
|
|
|
NM_206933.4(USH2A):c.7812T>A (p.Thr2604=)
|
rs751461138
|
|
NM_206933.4(USH2A):c.7816A>G (p.Lys2606Glu)
|
rs2102460448
|
|
NM_206933.4(USH2A):c.7818del (p.Gly2607fs)
|
|
|
NM_206933.4(USH2A):c.781_784+1375del
|
|
|
NM_206933.4(USH2A):c.7831del (p.Ser2611fs)
|
rs1665136420
|
|
NM_206933.4(USH2A):c.7836A>G (p.Pro2612=)
|
rs2102460421
|
|
NM_206933.4(USH2A):c.7839G>A (p.Glu2613=)
|
|
|
NM_206933.4(USH2A):c.784+10T>A
|
rs1571744021
|
|
NM_206933.4(USH2A):c.784+11G>A
|
|
|
NM_206933.4(USH2A):c.784+11G>C
|
|
|
NM_206933.4(USH2A):c.784+13C>G
|
|
|
NM_206933.4(USH2A):c.784+14389G>T
|
|
|
NM_206933.4(USH2A):c.784+16C>T
|
|
|
NM_206933.4(USH2A):c.784+18G>T
|
rs1558055776
|
|
NM_206933.4(USH2A):c.784+20A>G
|
rs2102708380
|
|
NM_206933.4(USH2A):c.784+2T>C
|
rs2038566039
|
|
NM_206933.4(USH2A):c.7842C>A (p.Ser2614=)
|
|
|
NM_206933.4(USH2A):c.7848T>G (p.Thr2616=)
|
|
|
NM_206933.4(USH2A):c.785-10G>A
|
|
|
NM_206933.4(USH2A):c.785-11T>G
|
|
|
NM_206933.4(USH2A):c.785-12G>A
|
|
|
NM_206933.4(USH2A):c.785-13T>C
|
rs913111449
|
|
NM_206933.4(USH2A):c.785-15T>G
|
|
|
NM_206933.4(USH2A):c.785-16A>C
|
|
|
NM_206933.4(USH2A):c.785-17C>T
|
|
|
NM_206933.4(USH2A):c.785-18A>G
|
|
|
NM_206933.4(USH2A):c.785-19C>G
|
|
|
NM_206933.4(USH2A):c.785-1G>A
|
rs2037762589
|
|
NM_206933.4(USH2A):c.785-2A>C
|
|
|
NM_206933.4(USH2A):c.785-4G>T
|
|
|
NM_206933.4(USH2A):c.785-5T>A
|
rs2037762657
|
|
NM_206933.4(USH2A):c.785-8A>T
|
rs2102658906
|
|
NM_206933.4(USH2A):c.785-9dup
|
rs2102658912
|
|
NM_206933.4(USH2A):c.7852T>C (p.Trp2618Arg)
|
rs747547953
|
|
NM_206933.4(USH2A):c.7857A>C (p.Thr2619=)
|
|
|
NM_206933.4(USH2A):c.7857A>G (p.Thr2619=)
|
rs2102460387
|
|
NM_206933.4(USH2A):c.7861C>T (p.Pro2621Ser)
|
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
NM_206933.4(USH2A):c.7863A>G (p.Pro2621=)
|
|
|
NM_206933.4(USH2A):c.7863del (p.Ala2623fs)
|
rs2102460377
|
|
NM_206933.4(USH2A):c.7867G>T (p.Ala2623Ser)
|
|
|
NM_206933.4(USH2A):c.786T>C (p.Gly262=)
|
rs2102658890
|
|
NM_206933.4(USH2A):c.7873G>T (p.Glu2625Ter)
|
rs1259115799
|
|
NM_206933.4(USH2A):c.7878G>T (p.Gly2626=)
|
|
|
NM_206933.4(USH2A):c.7890A>G (p.Pro2630=)
|
rs756709712
|
|
NM_206933.4(USH2A):c.7896G>A (p.Leu2632=)
|
rs111542004
|
|
NM_206933.4(USH2A):c.7896G>C (p.Leu2632=)
|
rs111542004
|
|
NM_206933.4(USH2A):c.78T>G (p.Ala26=)
|
rs59139861
|
|
NM_206933.4(USH2A):c.7902T>G (p.Ser2634=)
|
rs2102460317
|
|
NM_206933.4(USH2A):c.7907C>T (p.Thr2636Ile)
|
rs764922996
|
|
NM_206933.4(USH2A):c.7908T>A (p.Thr2636=)
|
rs1665133434
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.792_795del (p.Glu264fs)
|
|
|
NM_206933.4(USH2A):c.7931G>A (p.Trp2644Ter)
|
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.7933C>T (p.Gln2645Ter)
|
|
|
NM_206933.4(USH2A):c.7938C>T (p.Pro2646=)
|
rs772771795
|
|
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser)
|
rs1414367127
|
|
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
|
rs1665132445
|
|
NM_206933.4(USH2A):c.7944C>T (p.Thr2648=)
|
rs2102460270
|
|
NM_206933.4(USH2A):c.7947C>T (p.His2649=)
|
rs2102460266
|
|
NM_206933.4(USH2A):c.7949C>T (p.Pro2650Leu)
|
rs774819705
|
|
NM_206933.4(USH2A):c.7950C>A (p.Pro2650=)
|
rs1665131798
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_206933.4(USH2A):c.7956C>A (p.Gly2652=)
|
rs1041425619
|
|
NM_206933.4(USH2A):c.7956C>T (p.Gly2652=)
|
rs1041425619
|
|
NM_206933.4(USH2A):c.7973C>T (p.Thr2658Ile)
|
|
|
NM_206933.4(USH2A):c.7977del (p.Ile2659fs)
|
rs2102460222
|
|
NM_206933.4(USH2A):c.7980G>A (p.Glu2660=)
|
rs2102460218
|
|
NM_206933.4(USH2A):c.7998G>A (p.Lys2666=)
|
rs1344401470
|
|
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)
|
rs1301139848
|
|
NM_206933.4(USH2A):c.8001A>G (p.Glu2667=)
|
|
|
NM_206933.4(USH2A):c.8002G>T (p.Glu2668Ter)
|
rs2102460193
|
|
NM_206933.4(USH2A):c.8003A>G (p.Glu2668Gly)
|
rs267598377
|
|
NM_206933.4(USH2A):c.8009C>T (p.Thr2670Ile)
|
|
|
NM_206933.4(USH2A):c.8013C>T (p.Thr2671=)
|
|
|
NM_206933.4(USH2A):c.8016G>C (p.Leu2672=)
|
rs368327746
|
|
NM_206933.4(USH2A):c.8025C>A (p.Leu2675=)
|
rs2102460167
|
|
NM_206933.4(USH2A):c.8029A>G (p.Arg2677Gly)
|
|
|
NM_206933.4(USH2A):c.802G>C (p.Gly268Arg)
|
|
|
NM_206933.4(USH2A):c.8031G>A (p.Arg2677=)
|
|
|
NM_206933.4(USH2A):c.8034T>C (p.Ser2678=)
|
|
|
NM_206933.4(USH2A):c.8037T>C (p.His2679=)
|
|
|
NM_206933.4(USH2A):c.803del (p.Gly268fs)
|
rs2037761776
|
|
NM_206933.4(USH2A):c.8040C>T (p.Ser2680=)
|
rs2102460151
|
|
NM_206933.4(USH2A):c.8046G>A (p.Arg2682=)
|
rs1665127630
|
|
NM_206933.4(USH2A):c.8052T>C (p.Ile2684=)
|
rs1665127570
|
|
NM_206933.4(USH2A):c.8053G>A (p.Asp2685Asn)
|
rs2102460134
|
|
NM_206933.4(USH2A):c.805A>T (p.Arg269Ter)
|
|
|
NM_206933.4(USH2A):c.8064T>C (p.Ser2688=)
|
rs1456443971
|
|
NM_206933.4(USH2A):c.8076A>C (p.Pro2692=)
|
|
|
NM_206933.4(USH2A):c.8076A>G (p.Pro2692=)
|
|
|
NM_206933.4(USH2A):c.8077T>C (p.Trp2693Arg)
|
rs1310882905
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
NM_206933.4(USH2A):c.8082A>G (p.Thr2694=)
|
|
|
NM_206933.4(USH2A):c.8083A>T (p.Lys2695Ter)
|
rs775921966
|
|
NM_206933.4(USH2A):c.8085A>C (p.Lys2695Asn)
|
|
|
NM_206933.4(USH2A):c.8088T>A (p.Tyr2696Ter)
|
|
|
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter)
|
rs1558146243
|
|
NM_206933.4(USH2A):c.8093A>T (p.Tyr2698Phe)
|
|
|
NM_206933.4(USH2A):c.8094T>G (p.Tyr2698Ter)
|
|
|
NM_206933.4(USH2A):c.8096G>C (p.Arg2699Pro)
|
rs748137104
|
|
NM_206933.4(USH2A):c.8098del (p.Val2700fs)
|
|
|
NM_206933.4(USH2A):c.8103G>A (p.Leu2701=)
|
rs1184939294
|
|
NM_206933.4(USH2A):c.8112T>C (p.Thr2704=)
|
|
|
NM_206933.4(USH2A):c.8116C>T (p.His2706Tyr)
|
rs1237514743
|
|
NM_206933.4(USH2A):c.8118T>G (p.His2706Gln)
|
|
|
NM_206933.4(USH2A):c.8125A>C (p.Thr2709Pro)
|
|
|
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs)
|
rs768367348
|
|
NM_206933.4(USH2A):c.8132G>A (p.Ser2711Asn)
|
|
|
NM_206933.4(USH2A):c.8133C>T (p.Ser2711=)
|
rs2102460027
|
|
NM_206933.4(USH2A):c.8136T>C (p.Ser2712=)
|
|
|
NM_206933.4(USH2A):c.8139T>C (p.Ala2713=)
|
|
|
NM_206933.4(USH2A):c.8143dup (p.Val2715fs)
|
rs760455927
|
|
NM_206933.4(USH2A):c.815del (p.Asp272fs)
|
rs2102658827
|
|
NM_206933.4(USH2A):c.8163C>T (p.Pro2721=)
|
rs562887202
|
|
NM_206933.4(USH2A):c.8167C>A (p.Arg2723=)
|
|
|
NM_206933.4(USH2A):c.8168G>T (p.Arg2723Leu)
|
|
|
NM_206933.4(USH2A):c.8169A>G (p.Arg2723=)
|
rs2102459972
|
|
NM_206933.4(USH2A):c.8169A>T (p.Arg2723=)
|
|
|
NM_206933.4(USH2A):c.8178G>T (p.Gly2726=)
|
|
|
NM_206933.4(USH2A):c.8184G>A (p.Gln2728=)
|
rs2102459948
|
|
NM_206933.4(USH2A):c.8186C>G (p.Pro2729Arg)
|
|
|
NM_206933.4(USH2A):c.8187A>C (p.Pro2729=)
|
rs2102459940
|
|
NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser)
|
rs768532694
|
|
NM_206933.4(USH2A):c.8190_8193dup (p.Val2732fs)
|
|
|
NM_206933.4(USH2A):c.8195_8199dup (p.Val2734Ter)
|
|
|
NM_206933.4(USH2A):c.8199A>G (p.Thr2733=)
|
|
|
NM_206933.4(USH2A):c.8208A>G (p.Glu2736=)
|
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
NM_206933.4(USH2A):c.8216C>T (p.Ala2739Val)
|
rs2102459901
|
|
NM_206933.4(USH2A):c.8220C>T (p.Val2740=)
|
rs2102459894
|
|
NM_206933.4(USH2A):c.8223+10del
|
rs2102459881
|
|
NM_206933.4(USH2A):c.8223+11_8223+14del
|
|
|
NM_206933.4(USH2A):c.8223+13C>T
|
|
|
NM_206933.4(USH2A):c.8223+14T>A
|
|
|
NM_206933.4(USH2A):c.8223+16T>A
|
|
|
NM_206933.4(USH2A):c.8223+16T>C
|
|
|
NM_206933.4(USH2A):c.8223+19T>C
|
|
|
NM_206933.4(USH2A):c.8223+20C>T
|
rs2102459869
|
|
NM_206933.4(USH2A):c.8223+2del
|
|
|
NM_206933.4(USH2A):c.8223+9C>T
|
|
|
NM_206933.4(USH2A):c.8224-11T>A
|
|
|
NM_206933.4(USH2A):c.8224-14A>C
|
|
|
NM_206933.4(USH2A):c.8224-1G>A
|
|
|
NM_206933.4(USH2A):c.8224-1G>C
|
rs1664846558
|
|
NM_206933.4(USH2A):c.8224-1G>T
|
|
|
NM_206933.4(USH2A):c.8224-6T>G
|
rs1664846600
|
|
NM_206933.4(USH2A):c.8230T>A (p.Trp2744Arg)
|
|
|
NM_206933.4(USH2A):c.8231G>A (p.Trp2744Ter)
|
rs1664846292
|
|
NM_206933.4(USH2A):c.8232G>T (p.Trp2744Cys)
|
|
|
NM_206933.4(USH2A):c.8232del (p.Thr2743_Trp2744insTer)
|
rs1664846221
|
|
NM_206933.4(USH2A):c.8233A>C (p.Lys2745Gln)
|
rs2102452018
|
|
NM_206933.4(USH2A):c.8238C>T (p.Pro2746=)
|
|
|
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)
|
rs1553272201
|
|
NM_206933.4(USH2A):c.8244C>T (p.Leu2748=)
|
rs111033506
|
|
NM_206933.4(USH2A):c.8247C>A (p.Ile2749=)
|
rs1422141612
|
|
NM_206933.4(USH2A):c.8259C>T (p.Asp2753=)
|
|
|
NM_206933.4(USH2A):c.825A>G (p.Leu275=)
|
rs757800118
|
|
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
|
|
|
NM_206933.4(USH2A):c.8280C>T (p.His2760=)
|
rs2102451940
|
|
NM_206933.4(USH2A):c.8282T>G (p.Met2761Arg)
|
rs1251533890
|
|
NM_206933.4(USH2A):c.8283G>C (p.Met2761Ile)
|
rs774015174
|
|
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)
|
rs1188281491
|
|
NM_206933.4(USH2A):c.8289C>T (p.Asp2763=)
|
rs569679703
|
|
NM_206933.4(USH2A):c.828C>A (p.Tyr276Ter)
|
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.828C>T (p.Tyr276=)
|
|
|
NM_206933.4(USH2A):c.8290C>A (p.Pro2764Thr)
|
|
|
NM_206933.4(USH2A):c.8298C>G (p.Ile2766Met)
|
rs2102451906
|
|
NM_206933.4(USH2A):c.829C>G (p.Gln277Glu)
|
rs2102658805
|
|
NM_206933.4(USH2A):c.8307C>A (p.Thr2769=)
|
rs775137347
|
|
NM_206933.4(USH2A):c.8307C>T (p.Thr2769=)
|
|
|
NM_206933.4(USH2A):c.8312del (p.Val2771fs)
|
|
|
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe)
|
rs1413784848
|
|
NM_206933.4(USH2A):c.8319C>A (p.Ser2773=)
|
|
|
NM_206933.4(USH2A):c.8322A>G (p.Ala2774=)
|
|
|
NM_206933.4(USH2A):c.8324T>A (p.Val2775Glu)
|
rs767155952
|
|
NM_206933.4(USH2A):c.8326T>C (p.Leu2776=)
|
rs1664842592
|
|
NM_206933.4(USH2A):c.8327T>G (p.Leu2776Ter)
|
|
|
NM_206933.4(USH2A):c.8328_8329del (p.Gln2778fs)
|
|
|
NM_206933.4(USH2A):c.8332C>T (p.Gln2778Ter)
|
rs1664842535
|
|
NM_206933.4(USH2A):c.8340T>A (p.Val2780=)
|
rs2102451864
|
|
NM_206933.4(USH2A):c.8341A>G (p.Thr2781Ala)
|
|
|
NM_206933.4(USH2A):c.8342C>G (p.Thr2781Ser)
|
|
|
NM_206933.4(USH2A):c.8352T>C (p.Ile2784=)
|
|
|
NM_206933.4(USH2A):c.8355T>G (p.Pro2785=)
|
rs2102451831
|
|
NM_206933.4(USH2A):c.835G>A (p.Ala279Thr)
|
rs764553154
|
|
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu)
|
rs2102658782
|
|
NM_206933.4(USH2A):c.836C>T (p.Ala279Val)
|
rs2102658782
|
|
NM_206933.4(USH2A):c.8371G>C (p.Val2791Leu)
|
|
|
NM_206933.4(USH2A):c.8372T>C (p.Val2791Ala)
|
|
|
NM_206933.4(USH2A):c.8373C>T (p.Val2791=)
|
|
|
NM_206933.4(USH2A):c.8378T>C (p.Ile2793Thr)
|
|
|
NM_206933.4(USH2A):c.8388C>T (p.Cys2796=)
|
|
|
NM_206933.4(USH2A):c.8389dup (p.Ser2797fs)
|
|
|
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
NM_206933.4(USH2A):c.8390C>T (p.Ser2797Leu)
|
rs756866344
|
|
NM_206933.4(USH2A):c.8391A>C (p.Ser2797=)
|
|
|
NM_206933.4(USH2A):c.8391A>G (p.Ser2797=)
|
|
|
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala)
|
rs886044303
|
|
NM_206933.4(USH2A):c.8394G>C (p.Gly2798=)
|
rs763875413
|
|
NM_206933.4(USH2A):c.8400T>C (p.Asn2800=)
|
rs2102451770
|
|
NM_206933.4(USH2A):c.8403G>A (p.Gly2801=)
|
|
|
NM_206933.4(USH2A):c.8407del (p.Gly2804fs)
|
|
|
NM_206933.4(USH2A):c.8412A>C (p.Gly2804=)
|
|
|
NM_206933.4(USH2A):c.8421A>G (p.Thr2807=)
|
rs2102451734
|
|
NM_206933.4(USH2A):c.8424G>A (p.Glu2808=)
|
rs2102451730
|
|
NM_206933.4(USH2A):c.8427T>C (p.Ser2809=)
|
|
|
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
|
rs2037760415
|
|
NM_206933.4(USH2A):c.8435_8438del (p.Thr2812fs)
|
rs1664838877
|
|
NM_206933.4(USH2A):c.8439T>C (p.Tyr2813=)
|
rs2102451713
|
|
NM_206933.4(USH2A):c.8442dup (p.Thr2815fs)
|
rs2102451706
|
|
NM_206933.4(USH2A):c.8448T>G (p.Thr2816=)
|
|
|
NM_206933.4(USH2A):c.8451C>T (p.His2817=)
|
|
|
NM_206933.4(USH2A):c.8457del (p.Val2820fs)
|
|
|
NM_206933.4(USH2A):c.8464C>G (p.Gln2822Glu)
|
rs1401769592
|
|
NM_206933.4(USH2A):c.8466G>A (p.Gln2822=)
|
rs2102451660
|
|
NM_206933.4(USH2A):c.8472T>C (p.Val2824=)
|
|
|
NM_206933.4(USH2A):c.8475C>T (p.Gly2825=)
|
rs752360388
|
|
NM_206933.4(USH2A):c.8478A>G (p.Pro2826=)
|
rs2102451650
|
|
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly)
|
rs2102658767
|
|
NM_206933.4(USH2A):c.848+11G>A
|
|
|
NM_206933.4(USH2A):c.848+12T>A
|
|
|
NM_206933.4(USH2A):c.848+13T>C
|
|
|
NM_206933.4(USH2A):c.848+18T>C
|
|
|
NM_206933.4(USH2A):c.848+19G>A
|
|
|
NM_206933.4(USH2A):c.848+1G>T
|
rs2102658764
|
|
NM_206933.4(USH2A):c.848+2T>C
|
rs2102658759
|
|
NM_206933.4(USH2A):c.848+9A>G
|
|
|
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter)
|
rs2102451648
|
|
NM_206933.4(USH2A):c.8482del (p.Ser2828fs)
|
rs2102451639
|
|
NM_206933.4(USH2A):c.848G>T (p.Arg283Ile)
|
|
|
NM_206933.4(USH2A):c.849-14C>G
|
|
|
NM_206933.4(USH2A):c.849-14C>T
|
|
|
NM_206933.4(USH2A):c.849-20C>T
|
|
|
NM_206933.4(USH2A):c.849-2A>G
|
rs2102656326
|
|
NM_206933.4(USH2A):c.849-4A>G
|
rs765189933
|
|
NM_206933.4(USH2A):c.849-65G>C
|
rs114557184
|
|
NM_206933.4(USH2A):c.849-9C>A
|
|
|
NM_206933.4(USH2A):c.849-9C>G
|
|
|
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=)
|
rs753719500
|
|
NM_206933.4(USH2A):c.8505A>T (p.Ser2835=)
|
|
|
NM_206933.4(USH2A):c.850G>C (p.Glu284Gln)
|
|
|
NM_206933.4(USH2A):c.8514G>A (p.Val2838=)
|
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206933.4(USH2A):c.852G>A (p.Glu284=)
|
rs2102656311
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
NM_206933.4(USH2A):c.8532A>T (p.Pro2844=)
|
rs1225545564
|
|
NM_206933.4(USH2A):c.8535C>G (p.Ser2845=)
|
rs2102451580
|
|
NM_206933.4(USH2A):c.8537A>G (p.Lys2846Arg)
|
rs1664835856
|
|
NM_206933.4(USH2A):c.8538G>A (p.Lys2846=)
|
rs2102451576
|
|
NM_206933.4(USH2A):c.8545G>A (p.Gly2849Arg)
|
rs1338775991
|
|
NM_206933.4(USH2A):c.8546G>A (p.Gly2849Glu)
|
|
|
NM_206933.4(USH2A):c.8546G>T (p.Gly2849Val)
|
rs1064794034
|
|
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr)
|
rs397518038
|
|
NM_206933.4(USH2A):c.8551A>G (p.Asn2851Asp)
|
|
|
NM_206933.4(USH2A):c.8554T>C (p.Leu2852=)
|
|
|
NM_206933.4(USH2A):c.8558+10G>A
|
|
|
NM_206933.4(USH2A):c.8558+14A>T
|
rs1481201926
|
|
NM_206933.4(USH2A):c.8558+17A>G
|
rs1664834621
|
|
NM_206933.4(USH2A):c.8558+18T>C
|
|
|
NM_206933.4(USH2A):c.8558+19G>A
|
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.8558+20A>T
|
rs2102451529
|
|
NM_206933.4(USH2A):c.8558+5G>A
|
rs746331566
|
|
NM_206933.4(USH2A):c.8558+7G>A
|
|
|
NM_206933.4(USH2A):c.8558+9A>G
|
|
|
NM_206933.4(USH2A):c.8559-10T>C
|
|
|
NM_206933.4(USH2A):c.8559-12C>G
|
|
|
NM_206933.4(USH2A):c.8559-14G>A
|
|
|
NM_206933.4(USH2A):c.8559-160del
|
rs373566549
|
|
NM_206933.4(USH2A):c.8559-17C>G
|
|
|
NM_206933.4(USH2A):c.8559-18G>C
|
|
|
NM_206933.4(USH2A):c.8559-19T>C
|
|
|
NM_206933.4(USH2A):c.8559-1G>T
|
rs1664816177
|
|
NM_206933.4(USH2A):c.8559-217C>T
|
rs73090759
|
|
NM_206933.4(USH2A):c.8559-4T>G
|
|
|
NM_206933.4(USH2A):c.8559-9T>C
|
rs2102450839
|
|
NM_206933.4(USH2A):c.8559-9T>G
|
rs2102450839
|
|
NM_206933.4(USH2A):c.8569C>T (p.Leu2857=)
|
rs771422108
|
|
NM_206933.4(USH2A):c.856C>T (p.Leu286=)
|
|
|
NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)
|
|
|
NM_206933.4(USH2A):c.8577T>G (p.Arg2859=)
|
|
|
NM_206933.4(USH2A):c.8583C>A (p.Ile2861=)
|
rs754711382
|
|
NM_206933.4(USH2A):c.8583C>T (p.Ile2861=)
|
|
|
NM_206933.4(USH2A):c.8584C>T (p.Gln2862Ter)
|
rs748863844
|
|
NM_206933.4(USH2A):c.8585del (p.Gln2862fs)
|
|
|
NM_206933.4(USH2A):c.8592A>T (p.Pro2864=)
|
rs2102450791
|
|
NM_206933.4(USH2A):c.8593C>T (p.Leu2865Phe)
|
rs2102450789
|
|
NM_206933.4(USH2A):c.8598A>G (p.Ala2866=)
|
rs371993753
|
|
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
|
|
|
NM_206933.4(USH2A):c.8603A>G (p.Asn2868Ser)
|
|
|
NM_206933.4(USH2A):c.8605C>A (p.Pro2869Thr)
|
|
|
NM_206933.4(USH2A):c.8607C>T (p.Pro2869=)
|
rs2102450771
|
|
NM_206933.4(USH2A):c.8610A>G (p.Pro2870=)
|
|
|
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter)
|
rs2102450764
|
|
NM_206933.4(USH2A):c.8626T>A (p.Trp2876Arg)
|
|
|
NM_206933.4(USH2A):c.8628G>A (p.Trp2876Ter)
|
rs1180119632
|
|
NM_206933.4(USH2A):c.8633A>G (p.Asn2878Ser)
|
|
|
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8642C>G (p.Ser2881Ter)
|
rs2102450707
|
|
NM_206933.4(USH2A):c.8646A>G (p.Gly2882=)
|
rs2102450701
|
|
NM_206933.4(USH2A):c.8649T>C (p.Thr2883=)
|
|
|
NM_206933.4(USH2A):c.864C>T (p.Val288=)
|
|
|
NM_206933.4(USH2A):c.8654G>A (p.Trp2885Ter)
|
|
|
NM_206933.4(USH2A):c.8655_8681+1681del
|
|
|
NM_206933.4(USH2A):c.8657T>C (p.Leu2886Pro)
|
|
|
NM_206933.4(USH2A):c.8659T>C (p.Tyr2887His)
|
|
|
NM_206933.4(USH2A):c.8660A>G (p.Tyr2887Cys)
|
rs2102450682
|
|
NM_206933.4(USH2A):c.8661T>G (p.Tyr2887Ter)
|
rs2102450680
|
|
NM_206933.4(USH2A):c.8662G>T (p.Glu2888Ter)
|
|
|
NM_206933.4(USH2A):c.8666A>G (p.Asp2889Gly)
|
|
|
NM_206933.4(USH2A):c.8670G>A (p.Lys2890=)
|
|
|
NM_206933.4(USH2A):c.8671G>A (p.Gly2891Ser)
|
rs1316891540
|
|
NM_206933.4(USH2A):c.8672G>T (p.Gly2891Val)
|
rs1664810364
|
|
NM_206933.4(USH2A):c.8676T>C (p.Leu2892=)
|
rs2102450664
|
|
NM_206933.4(USH2A):c.8681+19T>C
|
|
|
NM_206933.4(USH2A):c.8681+1G>C
|
|
|
NM_206933.4(USH2A):c.8681+1G>T
|
rs876657733
|
|
NM_206933.4(USH2A):c.8681+20A>C
|
|
|
NM_206933.4(USH2A):c.8681+2T>C
|
rs2102450642
|
|
NM_206933.4(USH2A):c.8681+3G>A
|
rs541719977
|
|
NM_206933.4(USH2A):c.8681+8T>C
|
|
|
NM_206933.4(USH2A):c.8681G>C (p.Arg2894Thr)
|
rs1369414978
|
|
NM_206933.4(USH2A):c.8682-12del
|
|
|
NM_206933.4(USH2A):c.8682-15A>C
|
|
|
NM_206933.4(USH2A):c.8682-19del
|
|
|
NM_206933.4(USH2A):c.8682-1G>A
|
rs1553271001
|
|
NM_206933.4(USH2A):c.8682-25dup
|
rs781675282
|
|
NM_206933.4(USH2A):c.8682-2A>C
|
rs1553271002
|
|
NM_206933.4(USH2A):c.8682-5T>C
|
rs1664495207
|
|
NM_206933.4(USH2A):c.8682G>T (p.Arg2894Ser)
|
rs773808835
|
|
NM_206933.4(USH2A):c.8687C>T (p.Thr2896Ile)
|
rs1664494411
|
|
NM_206933.4(USH2A):c.8689A>G (p.Thr2897Ala)
|
|
|
NM_206933.4(USH2A):c.8694T>C (p.Tyr2898=)
|
rs2102440802
|
|
NM_206933.4(USH2A):c.8700T>C (p.Tyr2900=)
|
|
|
NM_206933.4(USH2A):c.8702T>C (p.Met2901Thr)
|
|
|
NM_206933.4(USH2A):c.8705T>C (p.Leu2902Pro)
|
rs2102440783
|
|
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=)
|
rs397518040
|
|
NM_206933.4(USH2A):c.8710G>C (p.Val2904Leu)
|
rs142649882
|
|
NM_206933.4(USH2A):c.8710G>T (p.Val2904Leu)
|
|
|
NM_206933.4(USH2A):c.8712A>G (p.Val2904=)
|
rs774764404
|
|
NM_206933.4(USH2A):c.8719A>C (p.Ser2907Arg)
|
rs780709921
|
|
NM_206933.4(USH2A):c.871G>T (p.Gly291Ter)
|
rs2102656270
|
|
NM_206933.4(USH2A):c.8720G>A (p.Ser2907Asn)
|
rs770376106
|
|
NM_206933.4(USH2A):c.8723_8724del (p.Val2908fs)
|
rs2102440742
|
|
NM_206933.4(USH2A):c.8724G>C (p.Val2908=)
|
|
|
NM_206933.4(USH2A):c.8725G>T (p.Gly2909Cys)
|
|
|
NM_206933.4(USH2A):c.8727T>C (p.Gly2909=)
|
rs1571762604
|
|
NM_206933.4(USH2A):c.8735C>T (p.Pro2912Leu)
|
|
|
NM_206933.4(USH2A):c.8736G>C (p.Pro2912=)
|
rs1040698211
|
|
NM_206933.4(USH2A):c.8738G>A (p.Ser2913Asn)
|
rs1664492083
|
|
NM_206933.4(USH2A):c.8748_8750dup (p.Thr2917_Val2918insThr)
|
|
|
NM_206933.4(USH2A):c.8751T>C (p.Thr2917=)
|
rs2102440675
|
|
NM_206933.4(USH2A):c.8753_8754del (p.Val2918fs)
|
|
|
NM_206933.4(USH2A):c.8754G>A (p.Val2918=)
|
rs1664491640
|
|
NM_206933.4(USH2A):c.8760G>T (p.Thr2920=)
|
rs200525258
|
|
NM_206933.4(USH2A):c.8766T>C (p.Ala2922=)
|
|
|
NM_206933.4(USH2A):c.8778G>A (p.Glu2926=)
|
rs374146074
|
|
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)
|
rs374146074
|
|
NM_206933.4(USH2A):c.8780G>C (p.Arg2927Thr)
|
|
|
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
|
|
|
NM_206933.4(USH2A):c.8783G>T (p.Gly2928Val)
|
rs746586128
|
|
NM_206933.4(USH2A):c.8786C>T (p.Ala2929Val)
|
|
|
NM_206933.4(USH2A):c.8787C>G (p.Ala2929=)
|
rs371183424
|
|
NM_206933.4(USH2A):c.8796T>C (p.Thr2932=)
|
rs2102440604
|
|
NM_206933.4(USH2A):c.8798C>A (p.Ala2933Glu)
|
rs780358747
|
|
NM_206933.4(USH2A):c.8799G>C (p.Ala2933=)
|
|
|
NM_206933.4(USH2A):c.8811C>T (p.Asn2937=)
|
|
|
NM_206933.4(USH2A):c.8815A>G (p.Thr2939Ala)
|
rs1314306343
|
|
NM_206933.4(USH2A):c.881T>C (p.Leu294Pro)
|
|
|
NM_206933.4(USH2A):c.8820C>T (p.Ala2940=)
|
|
|
NM_206933.4(USH2A):c.8823C>A (p.Ile2941=)
|
rs764453827
|
|
NM_206933.4(USH2A):c.8823C>T (p.Ile2941=)
|
rs764453827
|
|
NM_206933.4(USH2A):c.8829G>T (p.Val2943=)
|
|
|
NM_206933.4(USH2A):c.8845+10C>T
|
rs2102440506
|
|
NM_206933.4(USH2A):c.8845+12T>A
|
|
|
NM_206933.4(USH2A):c.8845+14T>C
|
|
|
NM_206933.4(USH2A):c.8845+18A>G
|
|
|
NM_206933.4(USH2A):c.8845+20C>T
|
|
|
NM_206933.4(USH2A):c.8845+4A>G
|
rs1057519222
|
|
NM_206933.4(USH2A):c.8845+507A>C
|
rs114024937
|
|
NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
|
|
NM_206933.4(USH2A):c.8845+8A>G
|
|
|
NM_206933.4(USH2A):c.8846-1G>T
|
rs771051185
|
|
NM_206933.4(USH2A):c.8846-2A>T
|
rs1553268594
|
|
NM_206933.4(USH2A):c.8846-3C>G
|
|
|
NM_206933.4(USH2A):c.8846-52del
|
rs77889398
|
|
NM_206933.4(USH2A):c.8846-53_8846-52del
|
rs77889398
|
|
NM_206933.4(USH2A):c.8846-88del
|
rs558614513
|
|
NM_206933.4(USH2A):c.8846-8G>A
|
rs2102823390
|
|
NM_206933.4(USH2A):c.8851C>A (p.Gln2951Lys)
|
|
|
NM_206933.4(USH2A):c.8862del (p.Gly2955fs)
|
rs2102823350
|
|
NM_206933.4(USH2A):c.886T>C (p.Leu296=)
|
|
|
NM_206933.4(USH2A):c.8871T>A (p.Val2957=)
|
rs750049598
|
|
NM_206933.4(USH2A):c.8880C>T (p.Tyr2960=)
|
|
|
NM_206933.4(USH2A):c.8881A>G (p.Thr2961Ala)
|
rs758748351
|
|
NM_206933.4(USH2A):c.8883_8886del (p.Leu2962fs)
|
rs2102823316
|
|
NM_206933.4(USH2A):c.8885T>C (p.Leu2962Pro)
|
rs1016491364
|
|
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs)
|
rs786205116
|
|
NM_206933.4(USH2A):c.8913C>G (p.Asp2971Glu)
|
|
|
NM_206933.4(USH2A):c.8913C>T (p.Asp2971=)
|
|
|
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)
|
rs1553268582
|
|
NM_206933.4(USH2A):c.8919A>C (p.Leu2973=)
|
|
|
NM_206933.4(USH2A):c.8928G>A (p.Leu2976=)
|
rs1335097126
|
|
NM_206933.4(USH2A):c.8932_8933insSVAelement
|
|
|
NM_206933.4(USH2A):c.8934T>C (p.Asp2978=)
|
|
|
NM_206933.4(USH2A):c.8945A>T (p.His2982Leu)
|
|
|
NM_206933.4(USH2A):c.894C>T (p.Ala298=)
|
rs1052598738
|
|
NM_206933.4(USH2A):c.8952T>C (p.Ile2984=)
|
rs1416836481
|
|
NM_206933.4(USH2A):c.8955C>T (p.Gly2985=)
|
|
|
NM_206933.4(USH2A):c.8959C>T (p.Leu2987=)
|
|
|
NM_206933.4(USH2A):c.895del (p.Gln299fs)
|
rs1338169194
|
|
NM_206933.4(USH2A):c.8961A>G (p.Leu2987=)
|
rs2102823226
|
|
NM_206933.4(USH2A):c.8963del (p.Lys2988fs)
|
|
|
NM_206933.4(USH2A):c.8964G>A (p.Lys2988=)
|
rs1044594969
|
|
NM_206933.4(USH2A):c.8972_8973del (p.Thr2991fs)
|
|
|
NM_206933.4(USH2A):c.8973A>C (p.Thr2991=)
|
rs2102823209
|
|
NM_206933.4(USH2A):c.8973A>T (p.Thr2991=)
|
|
|
NM_206933.4(USH2A):c.8976G>A (p.Glu2992=)
|
|
|
NM_206933.4(USH2A):c.8978A>G (p.Tyr2993Cys)
|
|
|
NM_206933.4(USH2A):c.8985C>A (p.Ile2995=)
|
rs901891136
|
|
NM_206933.4(USH2A):c.8988_8989insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGTATTGGATCTTT (p.Ile2997delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
rs2102823179
|
|
NM_206933.4(USH2A):c.898T>C (p.Ser300Pro)
|
|
|
NM_206933.4(USH2A):c.8990T>C (p.Ile2997Thr)
|
|
|
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro)
|
rs886043586
|
|
NM_206933.4(USH2A):c.8993_8994del (p.Ser2998fs)
|
rs2102823161
|
|
NM_206933.4(USH2A):c.8996T>C (p.Val2999Ala)
|
rs1663829100
|
|
NM_206933.4(USH2A):c.899C>T (p.Ser300Leu)
|
rs2037715022
|
|
NM_206933.4(USH2A):c.9000C>T (p.Phe3000=)
|
rs2102823155
|
|
NM_206933.4(USH2A):c.9005G>T (p.Gly3002Val)
|
|
|
NM_206933.4(USH2A):c.9006A>G (p.Gly3002=)
|
rs1663828830
|
|
NM_206933.4(USH2A):c.9009C>A (p.Val3003=)
|
|
|
NM_206933.4(USH2A):c.9015C>T (p.Ser3005=)
|
|
|
NM_206933.4(USH2A):c.9018C>T (p.Ile3006=)
|
|
|
NM_206933.4(USH2A):c.9027A>G (p.Ala3009=)
|
rs2102823099
|
|
NM_206933.4(USH2A):c.9030A>G (p.Gly3010=)
|
rs2102823095
|
|
NM_206933.4(USH2A):c.9048C>A (p.Cys3016Ter)
|
rs1057519208
|
|
NM_206933.4(USH2A):c.9049G>C (p.Asp3017His)
|
|
|
NM_206933.4(USH2A):c.9055+15T>G
|
|
|
NM_206933.4(USH2A):c.9055+196del
|
rs148509498
|
|
NM_206933.4(USH2A):c.9055+19G>A
|
|
|
NM_206933.4(USH2A):c.9055+1G>A
|
rs1553268562
|
|
NM_206933.4(USH2A):c.9055+1del
|
rs1553268563
|
|
NM_206933.4(USH2A):c.9055+20G>C
|
|
|
NM_206933.4(USH2A):c.9055+8C>A
|
|
|
NM_206933.4(USH2A):c.9056-10T>C
|
|
|
NM_206933.4(USH2A):c.9056-12C>T
|
|
|
NM_206933.4(USH2A):c.9056-15T>C
|
|
|
NM_206933.4(USH2A):c.9056-16C>A
|
|
|
NM_206933.4(USH2A):c.9056-9T>G
|
|
|
NM_206933.4(USH2A):c.9057G>A (p.Glu3019=)
|
|
|
NM_206933.4(USH2A):c.9065G>T (p.Gly3022Val)
|
rs760398253
|
|
NM_206933.4(USH2A):c.9076C>T (p.Pro3026Ser)
|
rs2102821924
|
|
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
|
|
|
NM_206933.4(USH2A):c.9093C>T (p.Ile3031=)
|
|
|
NM_206933.4(USH2A):c.9096C>T (p.Asn3032=)
|
rs2102821905
|
|
NM_206933.4(USH2A):c.9099T>C (p.Ser3033=)
|
rs2102821902
|
|
NM_206933.4(USH2A):c.909T>C (p.Arg303=)
|
|
|
NM_206933.4(USH2A):c.9106_9110del (p.Val3036fs)
|
|
|
NM_206933.4(USH2A):c.9117C>T (p.Ile3039=)
|
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
NM_206933.4(USH2A):c.9121A>C (p.Thr3041Pro)
|
rs1663782195
|
|
NM_206933.4(USH2A):c.9122C>G (p.Thr3041Arg)
|
rs2102821872
|
|
NM_206933.4(USH2A):c.9123A>C (p.Thr3041=)
|
|
|
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del)
|
rs760448755
|
|
NM_206933.4(USH2A):c.9129T>C (p.Pro3043=)
|
|
|
NM_206933.4(USH2A):c.9135C>T (p.Asn3045=)
|
|
|
NM_206933.4(USH2A):c.9143G>C (p.Gly3048Ala)
|
rs754391322
|
|
NM_206933.4(USH2A):c.9145G>A (p.Val3049Ile)
|
|
|
NM_206933.4(USH2A):c.9148G>T (p.Val3050Phe)
|
|
|
NM_206933.4(USH2A):c.9156G>A (p.Glu3052=)
|
rs766298464
|
|
NM_206933.4(USH2A):c.9165_9168del (p.Ile3055fs)
|
rs2102821808
|
|
NM_206933.4(USH2A):c.9168T>C (p.Tyr3056=)
|
|
|
NM_206933.4(USH2A):c.9174T>C (p.Asn3058=)
|
|
|
NM_206933.4(USH2A):c.9177T>C (p.Asn3059=)
|
rs2102821801
|
|
NM_206933.4(USH2A):c.9177T>G (p.Asn3059Lys)
|
rs2102821801
|
|
NM_206933.4(USH2A):c.9183C>A (p.Leu3061=)
|
rs550185911
|
|
NM_206933.4(USH2A):c.9183C>G (p.Leu3061=)
|
rs550185911
|
|
NM_206933.4(USH2A):c.9187A>G (p.Lys3063Glu)
|
rs1663780024
|
|
NM_206933.4(USH2A):c.918C>A (p.Gly306=)
|
|
|
NM_206933.4(USH2A):c.9192T>A (p.Thr3064=)
|
|
|
NM_206933.4(USH2A):c.9195A>G (p.Gly3065=)
|
rs774377667
|
|
NM_206933.4(USH2A):c.9202G>A (p.Val3068Met)
|
|
|
NM_206933.4(USH2A):c.9204G>T (p.Val3068=)
|
|
|
NM_206933.4(USH2A):c.9209G>A (p.Gly3070Glu)
|
rs2102821754
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9210G>C (p.Gly3070=)
|
rs2102821752
|
|
NM_206933.4(USH2A):c.9213G>T (p.Ser3071=)
|
|
|
NM_206933.4(USH2A):c.9216T>C (p.Phe3072=)
|
|
|
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs)
|
rs1553268434
|
|
NM_206933.4(USH2A):c.9228C>A (p.Asp3076Glu)
|
|
|
NM_206933.4(USH2A):c.9231G>A (p.Leu3077=)
|
|
|
NM_206933.4(USH2A):c.9231G>C (p.Leu3077=)
|
rs1307539322
|
|
NM_206933.4(USH2A):c.9235C>G (p.Pro3079Ala)
|
rs1663778262
|
|
NM_206933.4(USH2A):c.9239del (p.Phe3080fs)
|
rs2102821722
|
|
NM_206933.4(USH2A):c.9240C>T (p.Phe3080=)
|
rs397518044
|
|
NM_206933.4(USH2A):c.9248A>T (p.Tyr3083Phe)
|
rs768354522
|
|
NM_206933.4(USH2A):c.9249T>A (p.Tyr3083Ter)
|
|
|
NM_206933.4(USH2A):c.924C>T (p.His308=)
|
|
|
NM_206933.4(USH2A):c.9258+14T>G
|
rs2102821677
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
NM_206933.4(USH2A):c.9258+213C>T
|
rs73090730
|
|
NM_206933.4(USH2A):c.9258+9A>G
|
rs2102821684
|
|
NM_206933.4(USH2A):c.9259-10A>G
|
|
|
NM_206933.4(USH2A):c.9259-11A>C
|
rs777224185
|
|
NM_206933.4(USH2A):c.9259-16A>G
|
|
|
NM_206933.4(USH2A):c.9259-19T>C
|
|
|
NM_206933.4(USH2A):c.9259-19dup
|
|
|
NM_206933.4(USH2A):c.9259-3C>A
|
rs2102816699
|
|
NM_206933.4(USH2A):c.9259-4G>T
|
rs2102816703
|
|
NM_206933.4(USH2A):c.9259-5T>G
|
|
|
NM_206933.4(USH2A):c.9259-7T>C
|
rs761016411
|
|
NM_206933.4(USH2A):c.9259-9T>C
|
|
|
NM_206933.4(USH2A):c.9261T>C (p.Val3087=)
|
|
|
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)
|
rs1359713084
|
|
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)
|
rs779572631
|
|
NM_206933.4(USH2A):c.9270C>T (p.Cys3090=)
|
|
|
NM_206933.4(USH2A):c.9275T>C (p.Ile3092Thr)
|
|
|
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg)
|
rs373286445
|
|
NM_206933.4(USH2A):c.927G>A (p.Pro309=)
|
rs751443710
|
|
NM_206933.4(USH2A):c.927G>T (p.Pro309=)
|
|
|
NM_206933.4(USH2A):c.9285C>A (p.Cys3095Ter)
|
|
|
NM_206933.4(USH2A):c.9292A>T (p.Ser3098Cys)
|
|
|
NM_206933.4(USH2A):c.9293G>C (p.Ser3098Thr)
|
rs201393158
|
|
NM_206933.4(USH2A):c.9298G>T (p.Gly3100Ter)
|
|
|
NM_206933.4(USH2A):c.929G>A (p.Arg310Gln)
|
rs3820464
|
|
NM_206933.4(USH2A):c.92C>T (p.Thr31Ile)
|
|
|
NM_206933.4(USH2A):c.9300A>G (p.Gly3100=)
|
|
|
NM_206933.4(USH2A):c.9303C>G (p.Thr3101=)
|
rs564588972
|
|
NM_206933.4(USH2A):c.9307del (p.Ile3103fs)
|
rs1558121260
|
|
NM_206933.4(USH2A):c.9311C>T (p.Thr3104Ile)
|
|
|
NM_206933.4(USH2A):c.9312del (p.Thr3105fs)
|
rs2102816598
|
|
NM_206933.4(USH2A):c.9315T>C (p.Thr3105=)
|
|
|
NM_206933.4(USH2A):c.9315T>G (p.Thr3105=)
|
|
|
NM_206933.4(USH2A):c.9318G>A (p.Val3106=)
|
|
|
NM_206933.4(USH2A):c.9319G>T (p.Glu3107Ter)
|
|
|
NM_206933.4(USH2A):c.9329C>T (p.Pro3110Leu)
|
|
|
NM_206933.4(USH2A):c.9333T>C (p.Ser3111=)
|
rs2102816586
|
|
NM_206933.4(USH2A):c.9336T>A (p.Asp3112Glu)
|
|
|
NM_206933.4(USH2A):c.9338T>A (p.Ile3113Lys)
|
rs1345373932
|
|
NM_206933.4(USH2A):c.9339A>C (p.Ile3113=)
|
rs1571735204
|
|
NM_206933.4(USH2A):c.9339A>T (p.Ile3113=)
|
|
|
NM_206933.4(USH2A):c.933C>G (p.Val311=)
|
rs1571703898
|
|
NM_206933.4(USH2A):c.9340C>A (p.Pro3114Thr)
|
rs201071654
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
NM_206933.4(USH2A):c.9346C>T (p.Pro3116Ser)
|
|
|
NM_206933.4(USH2A):c.9348C>T (p.Pro3116=)
|
|
|
NM_206933.4(USH2A):c.9353_9354del (p.Ile3118fs)
|
|
|
NM_206933.4(USH2A):c.9369A>C (p.Ser3123=)
|
|
|
NM_206933.4(USH2A):c.9369A>G (p.Ser3123=)
|
|
|
NM_206933.4(USH2A):c.936C>T (p.His312=)
|
rs2102656098
|
|
NM_206933.4(USH2A):c.9371+10T>G
|
|
|
NM_206933.4(USH2A):c.9371+13G>T
|
|
|
NM_206933.4(USH2A):c.9371+15G>A
|
rs2102816525
|
|
NM_206933.4(USH2A):c.9371+19G>C
|
|
|
NM_206933.4(USH2A):c.9371+19G>T
|
|
|
NM_206933.4(USH2A):c.9371+1G>A
|
rs41308425
|
|
NM_206933.4(USH2A):c.9371+1G>T
|
|
|
NM_206933.4(USH2A):c.9371+205C>T
|
rs11120658
|
|
NM_206933.4(USH2A):c.9371+4C>T
|
|
|
NM_206933.4(USH2A):c.9372-105AT[7]
|
rs10632923
|
|
NM_206933.4(USH2A):c.9372-11C>T
|
rs767788226
|
|
NM_206933.4(USH2A):c.9372-12T>G
|
|
|
NM_206933.4(USH2A):c.9372-4G>A
|
rs199953845
|
|
NM_206933.4(USH2A):c.9372-5T>C
|
|
|
NM_206933.4(USH2A):c.9372-6T>C
|
|
|
NM_206933.4(USH2A):c.9372-7_9372-6del
|
rs2102796602
|
|
NM_206933.4(USH2A):c.9373T>C (p.Ser3125Pro)
|
|
|
NM_206933.4(USH2A):c.9378T>C (p.Leu3126=)
|
rs2102796579
|
|
NM_206933.4(USH2A):c.9381A>G (p.Gln3127=)
|
|
|
NM_206933.4(USH2A):c.9386_9389del (p.Asp3129fs)
|
|
|
NM_206933.4(USH2A):c.9387T>C (p.Asp3129=)
|
rs746932074
|
|
NM_206933.4(USH2A):c.9388T>C (p.Trp3130Arg)
|
rs773132672
|
|
NM_206933.4(USH2A):c.9388T>G (p.Trp3130Gly)
|
|
|
NM_206933.4(USH2A):c.9389G>T (p.Trp3130Leu)
|
|
|
NM_206933.4(USH2A):c.9390G>A (p.Trp3130Ter)
|
rs886042766
|
|
NM_206933.4(USH2A):c.9391dup (p.Val3131fs)
|
rs2102796558
|
|
NM_206933.4(USH2A):c.9393G>A (p.Val3131=)
|
rs778833885
|
|
NM_206933.4(USH2A):c.9394T>C (p.Ser3132Pro)
|
rs1662882781
|
|
NM_206933.4(USH2A):c.9399A>G (p.Pro3133=)
|
|
|
NM_206933.4(USH2A):c.93T>C (p.Thr31=)
|
|
|
NM_206933.4(USH2A):c.9402G>A (p.Arg3134=)
|
rs876657631
|
|
NM_206933.4(USH2A):c.9406C>A (p.Pro3136Thr)
|
|
|
NM_206933.4(USH2A):c.9411T>C (p.Asn3137=)
|
|
|
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
|
rs756163056
|
|
NM_206933.4(USH2A):c.9414C>G (p.Gly3138=)
|
|
|
NM_206933.4(USH2A):c.9414C>T (p.Gly3138=)
|
|
|
NM_206933.4(USH2A):c.9420T>C (p.Ile3140=)
|
rs2102796513
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9425G>A (p.Gly3142Glu)
|
rs1003254008
|
|
NM_206933.4(USH2A):c.9425G>T (p.Gly3142Val)
|
|
|
NM_206933.4(USH2A):c.9427T>C (p.Tyr3143His)
|
|
|
NM_206933.4(USH2A):c.9428A>G (p.Tyr3143Cys)
|
rs1662881745
|
|
NM_206933.4(USH2A):c.9429T>C (p.Tyr3143=)
|
rs1181553965
|
|
NM_206933.4(USH2A):c.9435C>A (p.Leu3145=)
|
|
|
NM_206933.4(USH2A):c.9435C>T (p.Leu3145=)
|
rs895001780
|
|
NM_206933.4(USH2A):c.9437T>C (p.Leu3146Pro)
|
rs1307351188
|
|
NM_206933.4(USH2A):c.943G>A (p.Ala315Thr)
|
rs776898258
|
|
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)
|
rs1662880811
|
|
NM_206933.4(USH2A):c.9441G>A (p.Trp3147Ter)
|
rs1662880750
|
|
NM_206933.4(USH2A):c.9447A>G (p.Thr3149=)
|
|
|
NM_206933.4(USH2A):c.9448T>A (p.Trp3150Arg)
|
rs1266573598
|
|
NM_206933.4(USH2A):c.9449G>A (p.Trp3150Ter)
|
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.945A>C (p.Ala315=)
|
|
|
NM_206933.4(USH2A):c.9461C>T (p.Ala3154Val)
|
rs1662879866
|
|
NM_206933.4(USH2A):c.9462T>C (p.Ala3154=)
|
rs903296159
|
|
NM_206933.4(USH2A):c.9466del (p.Thr3156fs)
|
|
|
NM_206933.4(USH2A):c.9468T>A (p.Thr3156=)
|
|
|
NM_206933.4(USH2A):c.9468T>G (p.Thr3156=)
|
rs539877917
|
|
NM_206933.4(USH2A):c.946C>T (p.Gln316Ter)
|
|
|
NM_206933.4(USH2A):c.9473del (p.Lys3158fs)
|
rs2102796411
|
|
NM_206933.4(USH2A):c.9478G>A (p.Val3160Met)
|
|
|
NM_206933.4(USH2A):c.9483G>A (p.Gln3161=)
|
|
|
NM_206933.4(USH2A):c.9487C>A (p.Gln3163Lys)
|
|
|
NM_206933.4(USH2A):c.9487C>T (p.Gln3163Ter)
|
rs188988614
|
|
NM_206933.4(USH2A):c.9488del (p.Gln3163fs)
|
rs2102796387
|
|
NM_206933.4(USH2A):c.9495dup (p.Glu3166Ter)
|
rs2102796376
|
|
NM_206933.4(USH2A):c.9498G>A (p.Glu3166=)
|
|
|
NM_206933.4(USH2A):c.9501C>T (p.Leu3167=)
|
|
|
NM_206933.4(USH2A):c.9504C>A (p.Cys3168Ter)
|
rs2102796365
|
|
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln)
|
rs760741238
|
|
NM_206933.4(USH2A):c.9513G>C (p.Val3171=)
|
rs2102796361
|
|
NM_206933.4(USH2A):c.9518_9519del (p.Cys3173fs)
|
|
|
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer)
|
rs2102796345
|
|
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln)
|
rs1553265812
|
|
NM_206933.4(USH2A):c.9534T>C (p.Ser3178=)
|
|
|
NM_206933.4(USH2A):c.9538del (p.Cys3180fs)
|
rs36108227
|
|
NM_206933.4(USH2A):c.953A>G (p.Tyr318Cys)
|
|
|
NM_206933.4(USH2A):c.9540T>C (p.Cys3180=)
|
|
|
NM_206933.4(USH2A):c.9543A>G (p.Gly3181=)
|
rs778121081
|
|
NM_206933.4(USH2A):c.9543A>T (p.Gly3181=)
|
|
|
NM_206933.4(USH2A):c.9546C>T (p.His3182=)
|
rs1172352073
|
|
NM_206933.4(USH2A):c.9549T>C (p.Ile3183=)
|
|
|
NM_206933.4(USH2A):c.9552C>A (p.Cys3184Ter)
|
|
|
NM_206933.4(USH2A):c.9552C>T (p.Cys3184=)
|
rs1328841882
|
|
NM_206933.4(USH2A):c.9555T>C (p.Tyr3185=)
|
rs1662876606
|
|
NM_206933.4(USH2A):c.9556del (p.Ser3186fs)
|
|
|
NM_206933.4(USH2A):c.9570+12C>T
|
|
|
NM_206933.4(USH2A):c.9570+13T>C
|
|
|
NM_206933.4(USH2A):c.9570+18A>G
|
|
|
NM_206933.4(USH2A):c.9570+19A>G
|
|
|
NM_206933.4(USH2A):c.9570+1G>T
|
|
|
NM_206933.4(USH2A):c.9570+1_9570+5del
|
|
|
NM_206933.4(USH2A):c.9570+7C>G
|
rs1310926465
|
|
NM_206933.4(USH2A):c.9571-12T>C
|
|
|
NM_206933.4(USH2A):c.9571-12T>G
|
|
|
NM_206933.4(USH2A):c.9571-15T>G
|
|
|
NM_206933.4(USH2A):c.9571-20A>G
|
|
|
NM_206933.4(USH2A):c.9571-4T>C
|
|
|
NM_206933.4(USH2A):c.9571-6T>G
|
|
|
NM_206933.4(USH2A):c.9571-9A>T
|
rs767149705
|
|
NM_206933.4(USH2A):c.9578G>T (p.Cys3193Phe)
|
|
|
NM_206933.4(USH2A):c.9593A>C (p.Tyr3198Ser)
|
rs772611054
|
|
NM_206933.4(USH2A):c.9594T>C (p.Tyr3198=)
|
|
|
NM_206933.4(USH2A):c.9600C>T (p.Pro3200=)
|
|
|
NM_206933.4(USH2A):c.9602_9611del (p.Lys3201fs)
|
rs2102793202
|
|
NM_206933.4(USH2A):c.9609A>T (p.Gly3203=)
|
rs530878261
|
|
NM_206933.4(USH2A):c.9621T>C (p.Cys3207=)
|
rs727505296
|
|
NM_206933.4(USH2A):c.9625G>T (p.Glu3209Ter)
|
|
|
NM_206933.4(USH2A):c.9630G>A (p.Lys3210=)
|
|
|
NM_206933.4(USH2A):c.9638del (p.Pro3213fs)
|
rs1662774674
|
|
NM_206933.4(USH2A):c.9640T>C (p.Phe3214Leu)
|
rs2102793151
|
|
NM_206933.4(USH2A):c.9642dup (p.Val3215fs)
|
|
|
NM_206933.4(USH2A):c.9645T>C (p.Val3215=)
|
|
|
NM_206933.4(USH2A):c.9646C>A (p.Leu3216Met)
|
rs368240096
|
|
NM_206933.4(USH2A):c.9654T>C (p.Ser3218=)
|
rs2102793137
|
|
NM_206933.4(USH2A):c.9665G>T (p.Cys3222Phe)
|
|
|
NM_206933.4(USH2A):c.9666T>C (p.Cys3222=)
|
|
|
NM_206933.4(USH2A):c.9668G>C (p.Cys3223Ser)
|
rs1662773660
|
|
NM_206933.4(USH2A):c.9669T>A (p.Cys3223Ter)
|
|
|
NM_206933.4(USH2A):c.9669TGG[1] (p.Gly3225del)
|
rs756735388
|
|
NM_206933.4(USH2A):c.9672T>C (p.Gly3224=)
|
rs1662773451
|
|
NM_206933.4(USH2A):c.9675C>T (p.Gly3225=)
|
rs2102793106
|
|
NM_206933.4(USH2A):c.9677G>A (p.Arg3226Gln)
|
|
|
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)
|
rs1662772955
|
|
NM_206933.4(USH2A):c.9687G>A (p.Glu3229=)
|
rs1277513271
|
|
NM_206933.4(USH2A):c.9688G>T (p.Ala3230Ser)
|
rs528342000
|
|
NM_206933.4(USH2A):c.9690A>G (p.Ala3230=)
|
rs1571712415
|
|
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)
|
rs1662771528
|
|
NM_206933.4(USH2A):c.96G>A (p.Glu32=)
|
|
|
NM_206933.4(USH2A):c.9707G>A (p.Cys3236Tyr)
|
|
|
NM_206933.4(USH2A):c.9717G>A (p.Gly3239=)
|
|
|
NM_206933.4(USH2A):c.9723C>G (p.Tyr3241Ter)
|
rs6660707
|
|
NM_206933.4(USH2A):c.9725C>A (p.Ala3242Asp)
|
|
|
NM_206933.4(USH2A):c.9726T>C (p.Ala3242=)
|
rs2102793007
|
|
NM_206933.4(USH2A):c.972A>G (p.Ala324=)
|
|
|
NM_206933.4(USH2A):c.9739+10A>G
|
rs2102792978
|
|
NM_206933.4(USH2A):c.9739+15C>T
|
|
|
NM_206933.4(USH2A):c.9739+1G>C
|
rs2102792994
|
|
NM_206933.4(USH2A):c.9739+2T>C
|
rs2102792992
|
|
NM_206933.4(USH2A):c.9740-15G>T
|
|
|
NM_206933.4(USH2A):c.9740-17T>G
|
rs2102778847
|
|
NM_206933.4(USH2A):c.9740-19T>C
|
|
|
NM_206933.4(USH2A):c.9740-1G>A
|
rs1662239185
|
|
NM_206933.4(USH2A):c.9740-2A>G
|
rs2102778824
|
|
NM_206933.4(USH2A):c.9740-4A>C
|
rs2102778828
|
|
NM_206933.4(USH2A):c.9740-5G>T
|
rs747659770
|
|
NM_206933.4(USH2A):c.9740-7T>C
|
rs2102778834
|
|
NM_206933.4(USH2A):c.9740-9A>C
|
|
|
NM_206933.4(USH2A):c.9744A>C (p.Glu3248Asp)
|
rs1662239120
|
|
NM_206933.4(USH2A):c.9744A>G (p.Glu3248=)
|
|
|
NM_206933.4(USH2A):c.9747A>G (p.Val3249=)
|
rs754904571
|
|
NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg)
|
rs527236118
|
|
NM_206933.4(USH2A):c.9756A>G (p.Pro3252=)
|
rs1386988410
|
|
NM_206933.4(USH2A):c.9759T>C (p.Asp3253=)
|
rs2102778789
|
|
NM_206933.4(USH2A):c.9761A>C (p.Glu3254Ala)
|
|
|
NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter)
|
rs1662226257
|
|
NM_206933.4(USH2A):c.9768C>T (p.His3256=)
|
|
|
NM_206933.4(USH2A):c.9771T>C (p.Asn3257=)
|
rs755843100
|
|
NM_206933.4(USH2A):c.9772C>A (p.Arg3258=)
|
|
|
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
|
|
|
NM_206933.4(USH2A):c.9777T>G (p.Val3259=)
|
rs2102778752
|
|
NM_206933.4(USH2A):c.977A>G (p.Asp326Gly)
|
|
|
NM_206933.4(USH2A):c.9781G>C (p.Val3261Leu)
|
rs1662225737
|
|
NM_206933.4(USH2A):c.9787A>G (p.Ile3263Val)
|
|
|
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del)
|
rs1246009294
|
|
NM_206933.4(USH2A):c.9798C>T (p.Ser3266=)
|
rs2102778738
|
|
NM_206933.4(USH2A):c.9800G>T (p.Cys3267Phe)
|
rs1662225276
|
|
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr)
|
rs1662225145
|
|
NM_206933.4(USH2A):c.9804T>C (p.Cys3268=)
|
|
|
NM_206933.4(USH2A):c.9808A>G (p.Arg3270Gly)
|
rs1662224935
|
|
NM_206933.4(USH2A):c.9811del (p.Met3271fs)
|
rs767328784
|
|
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile)
|
rs137876918
|
|
NM_206933.4(USH2A):c.9816G>T (p.Pro3272=)
|
|
|
NM_206933.4(USH2A):c.9819C>T (p.Tyr3273=)
|
rs1558103452
|
|
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.9833del (p.Asn3278fs)
|
|
|
NM_206933.4(USH2A):c.9846T>G (p.Cys3282Trp)
|
|
|
NM_206933.4(USH2A):c.9853A>G (p.Arg3285Gly)
|
|
|
NM_206933.4(USH2A):c.9857T>C (p.Leu3286Pro)
|
rs2102778644
|
|
NM_206933.4(USH2A):c.9858T>G (p.Leu3286=)
|
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9861T>C (p.His3287=)
|
rs2102778642
|
|
NM_206933.4(USH2A):c.9870T>A (p.His3290Gln)
|
|
|
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter)
|
rs2102778615
|
|
NM_206933.4(USH2A):c.9879G>A (p.Lys3293=)
|
|
|
NM_206933.4(USH2A):c.987_988insTAA (p.Asn330Ter)
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rs2102655994
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NM_206933.4(USH2A):c.987dup (p.Asn330Ter)
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NM_206933.4(USH2A):c.9880T>A (p.Cys3294Ser)
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NM_206933.4(USH2A):c.9881G>T (p.Cys3294Phe)
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rs2102778597
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NM_206933.4(USH2A):c.9881_9882insT (p.Cys3295fs)
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rs2102778595
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NM_206933.4(USH2A):c.9884G>A (p.Cys3295Tyr)
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rs1662221668
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NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
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rs780036975
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NM_206933.4(USH2A):c.9888C>T (p.Gly3296=)
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NM_206933.4(USH2A):c.9891A>G (p.Arg3297=)
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rs2102778576
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NM_206933.4(USH2A):c.9897T>A (p.Ile3299=)
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NM_206933.4(USH2A):c.9897T>C (p.Ile3299=)
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rs745702281
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NM_206933.4(USH2A):c.9898G>A (p.Val3300Met)
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NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)
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rs2039690812
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NM_206933.4(USH2A):c.9900G>A (p.Val3300=)
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rs2102778564
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NM_206933.4(USH2A):c.9907G>A (p.Asp3303Asn)
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NM_206933.4(USH2A):c.990T>C (p.Asn330=)
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rs2102655989
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NM_206933.4(USH2A):c.990dup (p.Arg331Ter)
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NM_206933.4(USH2A):c.9912A>G (p.Leu3304=)
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NM_206933.4(USH2A):c.9914A>C (p.Glu3305Ala)
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NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
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NM_206933.4(USH2A):c.9918T>C (p.Cys3306=)
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NM_206933.4(USH2A):c.9920G>T (p.Cys3307Phe)
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rs983763783
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NM_206933.4(USH2A):c.9927A>T (p.Gly3309=)
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NM_206933.4(USH2A):c.9929AAG[1] (p.Glu3311del)
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NM_206933.4(USH2A):c.9939G>A (p.Val3313=)
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rs1662219076
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NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
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rs1571703801
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NM_206933.4(USH2A):c.9941T>C (p.Val3314Ala)
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rs949059165
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NM_206933.4(USH2A):c.9942G>A (p.Val3314=)
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NM_206933.4(USH2A):c.9954T>A (p.Leu3318=)
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rs2102778470
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NM_206933.4(USH2A):c.9957A>G (p.Pro3319=)
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NM_206933.4(USH2A):c.9958+13G>A
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NM_206933.4(USH2A):c.9958+13G>C
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NM_206933.4(USH2A):c.9958+19C>G
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rs753907167
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NM_206933.4(USH2A):c.9958+1G>C
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NM_206933.4(USH2A):c.9958+2T>C
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rs2102778466
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NM_206933.4(USH2A):c.9958+4A>G
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NM_206933.4(USH2A):c.9958+6G>A
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rs1553263549
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NM_206933.4(USH2A):c.9958+7G>A
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NM_206933.4(USH2A):c.9958+8G>T
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rs370383574
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NM_206933.4(USH2A):c.9958+8del
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rs1226212384
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NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
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rs1285853856
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NM_206933.4(USH2A):c.9959-15A>G
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NM_206933.4(USH2A):c.9959-16C>A
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NM_206933.4(USH2A):c.9959-19T>C
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NM_206933.4(USH2A):c.9959-19del
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NM_206933.4(USH2A):c.9959-1G>C
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NM_206933.4(USH2A):c.9959-2A>G
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rs1661946523
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NM_206933.4(USH2A):c.9959-4159A>G
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rs1662067653
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NM_206933.4(USH2A):c.9959-4G>T
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NM_206933.4(USH2A):c.9959-6T>C
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rs2102770169
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NM_206933.4(USH2A):c.9961A>G (p.Met3321Val)
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rs1291515069
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NM_206933.4(USH2A):c.9966C>T (p.Phe3322=)
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NM_206933.4(USH2A):c.9967del (p.Cys3323fs)
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NM_206933.4(USH2A):c.9968G>T (p.Cys3323Phe)
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rs1661945998
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NM_206933.4(USH2A):c.996G>A (p.Val332=)
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NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
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rs1288381992
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NM_206933.4(USH2A):c.9984T>C (p.Tyr3328=)
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rs2102770114
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NM_206933.4(USH2A):c.9993G>A (p.Met3331Ile)
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rs1255334312
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NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)
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rs1571703770
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NM_206933.4(USH2A):c.99A>G (p.Ser33=)
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NM_206933.4:c.4628-30483_6325+8825del
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NM_206933.4:c.8462_12066+14961dup
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Single allele
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