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.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.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.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.5298+82C>A
|
rs80000884
|
0.02649
|
NM_206933.4(USH2A):c.4987+200C>T
|
rs79965279
|
0.02617
|
NM_206933.4(USH2A):c.9571-216G>A
|
rs78673581
|
0.02511
|
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.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.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.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.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.1551-233A>C
|
rs114503733
|
0.01577
|
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=)
|
rs111033472
|
0.01557
|
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)
|
rs45555435
|
0.01476
|
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=)
|
rs56013136
|
0.01440
|
NM_206933.4(USH2A):c.8681+18A>G
|
rs41277198
|
0.01418
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01377
|
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.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.3945T>C (p.Asn1315=)
|
rs41303257
|
0.01136
|
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.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=)
|
rs111632670
|
0.00984
|
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=)
|
rs78250390
|
0.00976
|
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)
|
rs78253373
|
0.00962
|
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg)
|
rs115884084
|
0.00956
|
NM_206933.4(USH2A):c.15297+57T>C
|
rs79341918
|
0.00919
|
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.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
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.10552G>A (p.Val3518Ile)
|
rs75397806
|
0.00696
|
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=)
|
rs6660707
|
0.00683
|
NM_206933.4(USH2A):c.848+5G>C
|
rs74329863
|
0.00641
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=)
|
rs78576418
|
0.00545
|
NM_206933.4(USH2A):c.78T>C (p.Ala26=)
|
rs59139861
|
0.00539
|
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.5517G>A (p.Val1839=)
|
rs111033421
|
0.00479
|
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr)
|
rs115015305
|
0.00441
|
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg)
|
rs115039883
|
0.00438
|
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)
|
rs73090721
|
0.00422
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=)
|
rs111033505
|
0.00418
|
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=)
|
rs56245532
|
0.00414
|
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.8458G>A (p.Val2820Ile)
|
rs59174500
|
0.00394
|
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=)
|
rs56829872
|
0.00393
|
NM_206933.4(USH2A):c.486-13G>A
|
rs116367260
|
0.00385
|
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.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.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe)
|
rs149222801
|
0.00339
|
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.12093C>T (p.Tyr4031=)
|
rs55921307
|
0.00295
|
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=)
|
rs137902779
|
0.00293
|
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.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.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His)
|
rs143624066
|
0.00217
|
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val)
|
rs111033498
|
0.00214
|
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.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.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)
|
rs112120466
|
0.00159
|
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.2167+17A>G
|
rs181777364
|
0.00129
|
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.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
NM_206933.4(USH2A):c.3158-7A>G
|
rs201558076
|
0.00097
|
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.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.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=)
|
rs149776188
|
0.00068
|
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.10769C>T (p.Pro3590Leu)
|
rs115403785
|
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.4758+3A>G
|
rs117798425
|
0.00056
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
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.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_206933.4(USH2A):c.9258+15T>C
|
rs181894778
|
0.00047
|
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)
|
rs201071654
|
0.00040
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)
|
rs146372677
|
0.00029
|
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)
|
rs111033262
|
0.00027
|
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=)
|
rs200243588
|
0.00026
|
NM_206933.4(USH2A):c.12315C>T (p.Asp4105=)
|
rs755072275
|
0.00024
|
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.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.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00019
|
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=)
|
rs200247886
|
0.00016
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
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.4627+7985C>T
|
rs563981453
|
0.00013
|
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=)
|
rs368327746
|
0.00013
|
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690
|
0.00011
|
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=)
|
rs188093326
|
0.00011
|
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=)
|
rs141528682
|
0.00010
|
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)
|
rs727503735
|
0.00010
|
NM_206933.4(USH2A):c.6958-5C>T
|
rs147914083
|
0.00010
|
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=)
|
rs200525258
|
0.00010
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=)
|
rs202172029
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_206933.4(USH2A):c.1731C>T (p.Cys577=)
|
rs41313732
|
0.00005
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser)
|
rs200993435
|
0.00004
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_206933.4(USH2A):c.10183-12C>T
|
rs747413632
|
0.00002
|
NM_206933.4(USH2A):c.1047T>C (p.Asp349=)
|
rs775053681
|
0.00001
|
NM_206933.4(USH2A):c.12696A>G (p.Pro4232=)
|
rs113805451
|
0.00001
|
NM_206933.4(USH2A):c.14493A>T (p.Gly4831=)
|
rs113716139
|
0.00001
|
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)
|
rs546494522
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.9259-14A>C
|
rs561590242
|
0.00001
|
GRCh37/hg19 1q41(chr1:215859895-215861469)x1
|
|
|
GRCh37/hg19 1q41(chr1:215859895-215861572)x1
|
|
|
GRCh37/hg19 1q41(chr1:215859895-215863578)x1
|
|
|
GRCh37/hg19 1q41(chr1:215860464-215863578)x1
|
|
|
GRCh37/hg19 1q41(chr1:215936900-216115708)x1
|
|
|
NM_206933.4(USH2A):c.*4A>G
|
rs530405236
|
|
NM_206933.4(USH2A):c.10182+27C>T
|
rs11120629
|
|
NM_206933.4(USH2A):c.10388-11dup
|
rs770615998
|
|
NM_206933.4(USH2A):c.10939+19del
|
rs751350899
|
|
NM_206933.4(USH2A):c.10939+19dup
|
rs751350899
|
|
NM_206933.4(USH2A):c.1093C>T (p.Leu365Phe)
|
rs531691537
|
|
NM_206933.4(USH2A):c.11232-321C>G
|
rs10864196
|
|
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+14del
|
rs79494833
|
|
NM_206933.4(USH2A):c.11389+308del
|
rs34577448
|
|
NM_206933.4(USH2A):c.11389+3dup
|
rs79494833
|
|
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[8]
|
rs140003076
|
|
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.11390-74_11390-73insATATATAT
|
rs1189390760
|
|
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.11390-93TA[7]
|
rs1263179301
|
|
NM_206933.4(USH2A):c.1144-28A>C
|
rs2102654460
|
|
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.11602A>G (p.Met3868Val)
|
rs35309576
|
|
NM_206933.4(USH2A):c.12066+305del
|
rs35895995
|
|
NM_206933.4(USH2A):c.12067-182C>G
|
rs4375237
|
|
NM_206933.4(USH2A):c.12067-31del
|
rs5780842
|
|
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)
|
rs145830318
|
|
NM_206933.4(USH2A):c.1328+37_1328+40del
|
rs145313346
|
|
NM_206933.4(USH2A):c.13857A>G (p.Ser4619=)
|
rs373694614
|
|
NM_206933.4(USH2A):c.14134-53del
|
rs371744542
|
|
NM_206933.4(USH2A):c.14134-68dup
|
rs371744542
|
|
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu)
|
rs41315587
|
|
NM_206933.4(USH2A):c.14792-111del
|
rs56212994
|
|
NM_206933.4(USH2A):c.14792-128dup
|
rs56212994
|
|
NM_206933.4(USH2A):c.14792-67del
|
rs371387260
|
|
NM_206933.4(USH2A):c.14969-261G>A
|
rs75547520
|
|
NM_206933.4(USH2A):c.15052+151G>T
|
rs540701486
|
|
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)
|
rs111033435
|
|
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[9]
|
rs67957139
|
|
NM_206933.4(USH2A):c.15520-4dup
|
rs1456785856
|
|
NM_206933.4(USH2A):c.1644+14dup
|
|
|
NM_206933.4(USH2A):c.1645-8del
|
rs763490382
|
|
NM_206933.4(USH2A):c.1645-8dup
|
rs763490382
|
|
NM_206933.4(USH2A):c.2168-20del
|
|
|
NM_206933.4(USH2A):c.2168-9dup
|
rs1431123329
|
|
NM_206933.4(USH2A):c.2993+94dup
|
rs142795742
|
|
NM_206933.4(USH2A):c.3158-284_3158-283del
|
rs33954636
|
|
NM_206933.4(USH2A):c.3317-12dup
|
rs774403089
|
|
NM_206933.4(USH2A):c.3317-14del
|
rs376363548
|
|
NM_206933.4(USH2A):c.3317-25dup
|
rs376363548
|
|
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=)
|
rs376090043
|
|
NM_206933.4(USH2A):c.4081+17del
|
|
|
NM_206933.4(USH2A):c.4252-15dup
|
rs770949401
|
|
NM_206933.4(USH2A):c.4252-36CTTT[5]
|
rs372388546
|
|
NM_206933.4(USH2A):c.4627+10935T>C
|
rs2102631193
|
|
NM_206933.4(USH2A):c.4627+2086T>G
|
rs2102638826
|
|
NM_206933.4(USH2A):c.4627+367C>T
|
rs2034343668
|
|
NM_206933.4(USH2A):c.4627+4029G>A
|
rs2034270661
|
|
NM_206933.4(USH2A):c.4627+5605A>C
|
rs2102635849
|
|
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.486-147A>G
|
rs17026722
|
|
NM_206933.4(USH2A):c.486-17del
|
|
|
NM_206933.4(USH2A):c.5026G>A (p.Val1676Ile)
|
rs768619553
|
|
NM_206933.4(USH2A):c.5167+15A>C
|
rs533195236
|
|
NM_206933.4(USH2A):c.5299-15dup
|
rs778186770
|
|
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.5573-34del
|
rs35944387
|
|
NM_206933.4(USH2A):c.5573-578C>A
|
rs17026031
|
|
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)
|
rs373604102
|
|
NM_206933.4(USH2A):c.652-24A>T
|
rs2102708750
|
|
NM_206933.4(USH2A):c.6528T>C (p.Tyr2176=)
|
rs560847831
|
|
NM_206933.4(USH2A):c.6657+100del
|
rs140899702
|
|
NM_206933.4(USH2A):c.6657+123G>A
|
rs28588034
|
|
NM_206933.4(USH2A):c.6657+202dup
|
rs138109851
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6806-117_6806-116del
|
rs10569124
|
|
NM_206933.4(USH2A):c.7120+13del
|
|
|
NM_206933.4(USH2A):c.7121-14del
|
rs536181325
|
|
NM_206933.4(USH2A):c.732T>C (p.Gly244=)
|
rs576466805
|
|
NM_206933.4(USH2A):c.750A>C (p.Ala250=)
|
rs1249830634
|
|
NM_206933.4(USH2A):c.7595-110del
|
rs75163086
|
|
NM_206933.4(USH2A):c.7595-2420C>T
|
rs12408624
|
|
NM_206933.4(USH2A):c.8681+3G>A
|
rs541719977
|
|
NM_206933.4(USH2A):c.8682-12del
|
|
|
NM_206933.4(USH2A):c.8682-19del
|
|
|
NM_206933.4(USH2A):c.8682-25dup
|
rs781675282
|
|
NM_206933.4(USH2A):c.8845+507A>C
|
rs114024937
|
|
NM_206933.4(USH2A):c.8846-52del
|
rs77889398
|
|
NM_206933.4(USH2A):c.8846-53_8846-52del
|
rs77889398
|
|
NM_206933.4(USH2A):c.9259-19dup
|
|
|
NM_206933.4(USH2A):c.9372-105AT[7]
|
rs10632923
|
|
NM_206933.4(USH2A):c.9958+8del
|
rs1226212384
|
|