NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met)
|
rs2438378
|
0.97114
|
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly)
|
rs2438374
|
0.93517
|
NM_032119.4(ADGRV1):c.18625-7T>C
|
rs7726023
|
0.91136
|
NM_206933.4(USH2A):c.4082-66A>C
|
rs386851
|
0.90510
|
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=)
|
rs807022
|
0.81877
|
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr)
|
rs807023
|
0.81454
|
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys)
|
rs2366928
|
0.76700
|
NM_032119.4(ADGRV1):c.2367+8C>T
|
rs2366773
|
0.76285
|
NM_015404.4(WHRN):c.1353T>C (p.Gly451=)
|
rs4979387
|
0.76260
|
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=)
|
rs2797235
|
0.74921
|
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe)
|
rs2366777
|
0.74245
|
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser)
|
rs1878878
|
0.74142
|
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)
|
rs4916684
|
0.73682
|
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr)
|
rs10779261
|
0.73169
|
NM_032119.4(ADGRV1):c.9907-35A>C
|
rs7723259
|
0.72915
|
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr)
|
rs6657250
|
0.67783
|
NM_001195263.2(PDZD7):c.367+7A>G
|
rs6584410
|
0.64290
|
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys)
|
rs1805049
|
0.62414
|
NM_206933.4(USH2A):c.504A>G (p.Thr168=)
|
rs4253963
|
0.61366
|
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_032119.4(ADGRV1):c.10161+26G>T
|
rs4916815
|
0.53367
|
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=)
|
rs2438349
|
0.52519
|
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr)
|
rs10864219
|
0.50009
|
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr)
|
rs942519
|
0.47944
|
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile)
|
rs2247870
|
0.45079
|
NM_206933.4(USH2A):c.11390-55C>T
|
rs4053764
|
0.41199
|
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala)
|
rs2274159
|
0.40624
|
NM_001195263.2(PDZD7):c.1749+43del
|
rs34125357
|
0.40205
|
NM_206933.4(USH2A):c.848+103C>G
|
rs1339963
|
0.38613
|
NM_015404.4(WHRN):c.-510G>A
|
rs10759714
|
0.36192
|
NM_206933.4(USH2A):c.10585+143A>C
|
rs6665799
|
0.36073
|
NM_015404.4(WHRN):c.-391C>A
|
rs4527950
|
0.35348
|
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=)
|
rs2797234
|
0.33929
|
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys)
|
rs10037067
|
0.33642
|
NM_015404.4(WHRN):c.-91C>T
|
rs2297814
|
0.33038
|
NM_015404.4(WHRN):c.117G>A (p.Val39=)
|
rs2297815
|
0.33019
|
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu)
|
rs4916685
|
0.32486
|
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=)
|
rs16876822
|
0.31193
|
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser)
|
rs2366926
|
0.31179
|
NM_032119.4(ADGRV1):c.6952-10G>A
|
rs10040165
|
0.31172
|
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=)
|
rs16869042
|
0.30112
|
NM_001195263.2(PDZD7):c.1934-55C>T
|
rs807020
|
0.28374
|
NM_206933.4(USH2A):c.1644+34A>C
|
rs7515253
|
0.28314
|
NM_206933.4(USH2A):c.1419C>T (p.Thr473=)
|
rs1805050
|
0.28143
|
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys)
|
rs10062026
|
0.27574
|
NM_206933.4(USH2A):c.11711+71A>T
|
rs6694510
|
0.25144
|
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe)
|
rs16868972
|
0.23938
|
NM_206933.4(USH2A):c.8559-65T>C
|
rs7518358
|
0.23802
|
NM_015404.4(WHRN):c.1627-12G>A
|
rs2274160
|
0.23283
|
NM_206933.4(USH2A):c.3812-8T>G
|
rs646094
|
0.20360
|
NM_206933.4(USH2A):c.4627+1038T>C
|
rs439940
|
0.20332
|
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=)
|
rs6880570
|
0.20255
|
NM_206933.4(USH2A):c.4627+1142G>T
|
rs401269
|
0.20255
|
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr)
|
rs4978584
|
0.19569
|
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys)
|
rs2274158
|
0.19185
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
NM_032119.4(ADGRV1):c.2735-34C>G
|
rs16868901
|
0.17765
|
NM_032119.4(ADGRV1):c.2241-19G>T
|
rs1344030
|
0.17743
|
NM_206933.4(USH2A):c.4082-44G>A
|
rs447102
|
0.17427
|
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_032119.4(ADGRV1):c.13599A>G (p.Thr4533=)
|
rs17554631
|
0.15645
|
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=)
|
rs950692
|
0.15398
|
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)
|
rs2009923
|
0.15011
|
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)
|
rs16869032
|
0.14695
|
NM_206933.4(USH2A):c.4628-63C>T
|
rs7540411
|
0.13052
|
NM_206933.4(USH2A):c.11389+9A>T
|
rs12095085
|
0.12571
|
NM_015404.4(WHRN):c.2283C>T (p.Ser761=)
|
rs34963246
|
0.12235
|
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=)
|
rs13158963
|
0.11513
|
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr)
|
rs56222536
|
0.10108
|
NM_206933.4(USH2A):c.6957+19A>G
|
rs6689120
|
0.09761
|
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala)
|
rs12339210
|
0.09351
|
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=)
|
rs12404427
|
0.07727
|
NM_206933.4(USH2A):c.11390-53C>T
|
rs6540907
|
0.07479
|
NM_032119.4(ADGRV1):c.8730+10_8730+11insC
|
rs377585302
|
0.06843
|
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met)
|
rs17544552
|
0.06764
|
NM_206933.4(USH2A):c.11231+45C>T
|
rs17025373
|
0.06476
|
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile)
|
rs13157270
|
0.06417
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=)
|
rs17543819
|
0.05741
|
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu)
|
rs16869016
|
0.05655
|
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp)
|
rs4129843
|
0.05402
|
NM_206933.4(USH2A):c.652-80T>C
|
rs45594833
|
0.05185
|
NM_206933.4(USH2A):c.4627+145T>G
|
rs55761862
|
0.05087
|
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val)
|
rs1805048
|
0.04940
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
NM_206933.4(USH2A):c.8681+120G>A
|
rs56301415
|
0.04758
|
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg)
|
rs7729495
|
0.04586
|
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=)
|
rs77792891
|
0.04524
|
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=)
|
rs56053654
|
0.04404
|
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=)
|
rs61635304
|
0.04389
|
NM_032119.4(ADGRV1):c.*60A>G
|
rs41311627
|
0.04272
|
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val)
|
rs77469944
|
0.04185
|
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser)
|
rs41277194
|
0.04165
|
NM_206933.4(USH2A):c.7300+43C>T
|
rs41277206
|
0.04068
|
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr)
|
rs79444516
|
0.04057
|
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu)
|
rs62000408
|
0.03806
|
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=)
|
rs35092519
|
0.03705
|
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn)
|
rs11120645
|
0.03545
|
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys)
|
rs16868974
|
0.03455
|
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala)
|
rs56032526
|
0.03269
|
NM_206933.4(USH2A):c.4627+699C>A
|
rs59704861
|
0.03223
|
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=)
|
rs17624033
|
0.03213
|
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=)
|
rs3763073
|
0.03149
|
NM_015404.4(WHRN):c.1515G>A (p.Ala505=)
|
rs34252199
|
0.03118
|
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln)
|
rs12118814
|
0.03107
|
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg)
|
rs41311333
|
0.03061
|
NM_206933.4(USH2A):c.10836C>A (p.Val3612=)
|
rs61276761
|
0.02977
|
NM_015404.4(WHRN):c.-257C>G
|
rs73555447
|
0.02919
|
NM_015404.4(WHRN):c.-204C>G
|
rs145985595
|
0.02512
|
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=)
|
rs16869039
|
0.02440
|
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)
|
rs111033266
|
0.02380
|
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=)
|
rs61753944
|
0.02377
|
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln)
|
rs73175207
|
0.02358
|
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=)
|
rs74327115
|
0.02341
|
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)
|
rs41311343
|
0.02332
|
NM_032119.4(ADGRV1):c.5346A>G (p.Gly1782=)
|
rs10067298
|
0.02309
|
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys)
|
rs111033430
|
0.02235
|
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=)
|
rs41304083
|
0.02229
|
NM_206933.4(USH2A):c.7300+29A>G
|
rs41277208
|
0.02225
|
NM_015404.4(WHRN):c.*438T>G
|
rs114641960
|
0.02166
|
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu)
|
rs10067636
|
0.02108
|
NM_206933.4(USH2A):c.573A>G (p.Val191=)
|
rs73102592
|
0.02039
|
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His)
|
rs61745498
|
0.02028
|
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_032119.4(ADGRV1):c.2001T>C (p.Asp667=)
|
rs9293547
|
0.01974
|
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val)
|
rs75191159
|
0.01965
|
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met)
|
rs2460169
|
0.01906
|
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)
|
rs111033381
|
0.01895
|
NM_206933.4(USH2A):c.8682-53A>G
|
rs115882431
|
0.01767
|
NM_032119.4(ADGRV1):c.-98G>A
|
rs7706355
|
0.01695
|
NM_206933.4(USH2A):c.5857+17A>C
|
rs74766738
|
0.01694
|
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)
|
rs6889939
|
0.01679
|
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val)
|
rs79915053
|
0.01674
|
NM_032119.4(ADGRV1):c.2735-10C>A
|
rs78625945
|
0.01665
|
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=)
|
rs111033472
|
0.01557
|
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=)
|
rs16869083
|
0.01524
|
NM_015404.4(WHRN):c.-295C>G
|
rs7861589
|
0.01478
|
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_032119.4(ADGRV1):c.5304G>A (p.Glu1768=)
|
rs41303346
|
0.01390
|
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.4627+32G>T
|
rs75662936
|
0.01284
|
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=)
|
rs41304884
|
0.01242
|
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_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile)
|
rs35791889
|
0.01134
|
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=)
|
rs77791584
|
0.01133
|
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr)
|
rs111033530
|
0.01127
|
NM_206933.4(USH2A):c.7301-65C>T
|
rs41277204
|
0.01115
|
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=)
|
rs111033397
|
0.01111
|
NM_032119.4(ADGRV1):c.7945+6C>T
|
rs139278305
|
0.01100
|
NM_020989.4(CRYGC):c.143G>A (p.Arg48His)
|
rs61751949
|
0.01047
|
NM_032119.4(ADGRV1):c.-47G>C
|
rs116110048
|
0.01017
|
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val)
|
rs16868935
|
0.01001
|
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=)
|
rs75480336
|
0.00991
|
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_032119.4(ADGRV1):c.1839+7G>A
|
rs142011700
|
0.00957
|
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg)
|
rs115884084
|
0.00956
|
NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr)
|
rs61749567
|
0.00937
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750
|
0.00844
|
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp)
|
rs113447586
|
0.00830
|
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)
|
rs111033470
|
0.00784
|
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=)
|
rs34705415
|
0.00775
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)
|
rs111033429
|
0.00767
|
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_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu)
|
rs74632023
|
0.00712
|
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_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_032119.4(ADGRV1):c.10769+9A>G
|
rs116184119
|
0.00645
|
NM_206933.4(USH2A):c.848+5G>C
|
rs74329863
|
0.00641
|
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser)
|
rs61731030
|
0.00638
|
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser)
|
rs56204273
|
0.00613
|
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_032119.4(ADGRV1):c.2553+11T>A
|
rs73181640
|
0.00580
|
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys)
|
rs76593842
|
0.00578
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_015404.4(WHRN):c.2046G>C (p.Arg682=)
|
rs35258467
|
0.00555
|
NM_015404.4(WHRN):c.2439G>A (p.Thr813=)
|
rs61743618
|
0.00545
|
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=)
|
rs78576418
|
0.00545
|
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=)
|
rs61740119
|
0.00542
|
NM_206933.4(USH2A):c.78T>C (p.Ala26=)
|
rs59139861
|
0.00539
|
NM_206933.4(USH2A):c.4627+641G>A
|
rs146153666
|
0.00523
|
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr)
|
rs116480183
|
0.00517
|
NM_032119.4(ADGRV1):c.-67A>T
|
rs150816712
|
0.00511
|
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)
|
rs72782753
|
0.00500
|
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys)
|
rs147062294
|
0.00492
|
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_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser)
|
rs148097083
|
0.00484
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
NM_206933.4(USH2A):c.5517G>A (p.Val1839=)
|
rs111033421
|
0.00479
|
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)
|
rs13171868
|
0.00467
|
NM_015404.4(WHRN):c.1166+18G>A
|
rs149202009
|
0.00456
|
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_032119.4(ADGRV1):c.5525-7C>T
|
rs137853919
|
0.00429
|
NM_015404.4(WHRN):c.2586C>A (p.His862Gln)
|
rs117592152
|
0.00424
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)
|
rs73090721
|
0.00422
|
NM_032119.4(ADGRV1):c.6320A>C (p.Gln2107Pro)
|
rs181475191
|
0.00421
|
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_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=)
|
rs149459739
|
0.00414
|
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_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)
|
rs201586455
|
0.00391
|
NM_206933.4(USH2A):c.486-13G>A
|
rs116367260
|
0.00385
|
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln)
|
rs73181648
|
0.00381
|
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=)
|
rs190981860
|
0.00381
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)
|
rs41304892
|
0.00378
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)
|
rs199839743
|
0.00372
|
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn)
|
rs149202379
|
0.00369
|
NM_032119.4(ADGRV1):c.*259A>G
|
rs147905321
|
0.00365
|
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)
|
rs79572315
|
0.00364
|
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)
|
rs148509395
|
0.00356
|
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_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln)
|
rs149390094
|
0.00330
|
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala)
|
rs141671082
|
0.00327
|
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr)
|
rs35703638
|
0.00326
|
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg)
|
rs41311625
|
0.00324
|
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)
|
rs137853918
|
0.00316
|
NM_032119.4(ADGRV1):c.16949C>G (p.Thr5650Ser)
|
rs61748627
|
0.00303
|
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=)
|
rs116446814
|
0.00299
|
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)
|
rs55921307
|
0.00295
|
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)
|
rs111033459
|
0.00294
|
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=)
|
rs137902779
|
0.00293
|
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.2510G>A (p.Arg837Gln)
|
rs148594393
|
0.00272
|
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408
|
0.00271
|
NM_032119.4(ADGRV1):c.17856+11G>A
|
rs187039736
|
0.00270
|
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_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala)
|
rs61754947
|
0.00245
|
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)
|
rs146994147
|
0.00245
|
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=)
|
rs148932387
|
0.00242
|
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_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)
|
rs201733037
|
0.00228
|
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)
|
rs199873924
|
0.00221
|
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_032119.4(ADGRV1):c.11568T>C (p.Val3856=)
|
rs143004930
|
0.00205
|
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_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596
|
0.00195
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
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_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)
|
rs113498662
|
0.00189
|
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)
|
rs201214794
|
0.00187
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_015404.4(WHRN):c.1627-5T>A
|
rs187221008
|
0.00184
|
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu)
|
rs79464236
|
0.00178
|
NM_015404.4(WHRN):c.1305C>T (p.Asn435=)
|
rs150407952
|
0.00177
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00177
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_206933.4(USH2A):c.4627+562C>T
|
rs769348449
|
0.00169
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_206933.4(USH2A):c.4627+1133G>A
|
rs138139294
|
0.00167
|
NM_206933.4(USH2A):c.4627+281T>C
|
rs570544314
|
0.00163
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
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.3364T>G (p.Ser1122Ala)
|
rs148135241
|
0.00152
|
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=)
|
rs61999270
|
0.00151
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=)
|
rs61741955
|
0.00145
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
0.00141
|
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=)
|
rs114719960
|
0.00141
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044
|
0.00140
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)
|
rs183447491
|
0.00135
|
NM_206933.4(USH2A):c.4627+981T>A
|
rs41277220
|
0.00135
|
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=)
|
rs80069610
|
0.00133
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)
|
rs184127858
|
0.00131
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_206933.4(USH2A):c.2167+17A>G
|
rs181777364
|
0.00129
|
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=)
|
rs186639101
|
0.00126
|
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu)
|
rs200897149
|
0.00125
|
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)
|
rs200055351
|
0.00123
|
NM_015404.4(WHRN):c.668G>A (p.Arg223His)
|
rs146273185
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)
|
rs144269892
|
0.00121
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp)
|
rs117352600
|
0.00120
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00119
|
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_032119.4(ADGRV1):c.16472G>A (p.Ser5491Asn)
|
rs199796758
|
0.00113
|
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_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
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_015404.4(WHRN):c.1149C>T (p.Thr383=)
|
rs149558159
|
0.00098
|
NM_206933.4(USH2A):c.3158-7A>G
|
rs201558076
|
0.00097
|
NM_015404.4(WHRN):c.-583C>T
|
rs755158483
|
0.00090
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
NM_206933.4(USH2A):c.3157+12C>T
|
rs199853422
|
0.00088
|
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)
|
rs188772875
|
0.00086
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00086
|
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)
|
rs192115090
|
0.00086
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00085
|
NM_015404.4(WHRN):c.1992G>A (p.Pro664=)
|
rs142568702
|
0.00084
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)
|
rs202110635
|
0.00083
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
NM_032119.4(ADGRV1):c.18803-13A>G
|
rs41305902
|
0.00083
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile)
|
rs149544995
|
0.00082
|
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_015404.4(WHRN):c.-305C>T
|
rs537786676
|
0.00079
|
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
|
rs143728180
|
0.00078
|
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met)
|
rs557989446
|
0.00078
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser)
|
rs200111522
|
0.00075
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00074
|
NM_032119.4(ADGRV1):c.6086C>T (p.Pro2029Leu)
|
rs200854813
|
0.00074
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
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_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00067
|
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)
|
rs200392821
|
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.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
NM_206933.4(USH2A):c.4627+801C>G
|
rs41277222
|
0.00064
|
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=)
|
rs143546878
|
0.00064
|
NM_015404.4(WHRN):c.2322C>T (p.Ser774=)
|
rs55966714
|
0.00062
|
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=)
|
rs200435877
|
0.00062
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
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_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys)
|
rs376401006
|
0.00060
|
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr)
|
rs199833843
|
0.00060
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
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_032119.4(ADGRV1):c.4128C>T (p.Asp1376=)
|
rs373730163
|
0.00056
|
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)
|
rs201963060
|
0.00056
|
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.4627+411A>G
|
rs772732997
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
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_015404.4(WHRN):c.1075G>A (p.Val359Ile)
|
rs147500559
|
0.00053
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00053
|
NM_015404.4(WHRN):c.2510G>A (p.Arg837His)
|
rs55749855
|
0.00053
|
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr)
|
rs200576500
|
0.00053
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00053
|
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn)
|
rs147283064
|
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_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
0.00049
|
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_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)
|
rs183633457
|
0.00047
|
NM_032119.4(ADGRV1):c.2241-10A>T
|
rs150996234
|
0.00047
|
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_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val)
|
rs137868043
|
0.00045
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00044
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581
|
0.00040
|
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)
|
rs201071654
|
0.00040
|
NM_015404.4(WHRN):c.-483G>A
|
rs886063374
|
0.00039
|
NM_015404.4(WHRN):c.1161G>A (p.Ser387=)
|
rs201105262
|
0.00039
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)
|
rs112273610
|
0.00039
|
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)
|
rs202106463
|
0.00038
|
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=)
|
rs202030777
|
0.00038
|
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)
|
rs146406377
|
0.00038
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)
|
rs376636949
|
0.00036
|
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=)
|
rs75019370
|
0.00036
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=)
|
rs145742052
|
0.00036
|
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu)
|
rs571203897
|
0.00035
|
NM_015404.4(WHRN):c.1887G>A (p.Pro629=)
|
rs143443833
|
0.00035
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114
|
0.00035
|
NM_206933.4(USH2A):c.4627+561T>C
|
rs566131886
|
0.00035
|
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg)
|
rs190988309
|
0.00034
|
NM_032119.4(ADGRV1):c.208-4A>G
|
rs374070113
|
0.00034
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886
|
0.00034
|
NM_032119.4(ADGRV1):c.8824+10G>A
|
rs180693049
|
0.00034
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_032119.4(ADGRV1):c.*101T>C
|
rs41315918
|
0.00031
|
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile)
|
rs61745496
|
0.00031
|
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_001195263.2(PDZD7):c.1629G>A (p.Gln543=)
|
rs192668758
|
0.00029
|
NM_032119.4(ADGRV1):c.-44C>T
|
rs192362302
|
0.00029
|
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=)
|
rs117641264
|
0.00029
|
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.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg)
|
rs200212083
|
0.00027
|
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu)
|
rs199792315
|
0.00027
|
NM_032119.4(ADGRV1):c.3022+8T>C
|
rs375286987
|
0.00027
|
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_015404.4(WHRN):c.2237-10C>G
|
rs200131193
|
0.00026
|
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val)
|
rs200584854
|
0.00026
|
NM_032119.4(ADGRV1):c.13722C>T (p.Asp4574=)
|
rs367768061
|
0.00026
|
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_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr)
|
rs201154290
|
0.00025
|
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)
|
rs143632883
|
0.00025
|
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)
|
rs201583659
|
0.00025
|
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_015404.4(WHRN):c.-595G>A
|
rs1030140507
|
0.00024
|
NM_015404.4(WHRN):c.1608C>G (p.Thr536=)
|
rs139337135
|
0.00024
|
NM_206933.4(USH2A):c.13563T>C (p.Pro4521=)
|
rs139701970
|
0.00024
|
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=)
|
rs397518016
|
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_015404.4(WHRN):c.1381A>C (p.Met461Leu)
|
rs144878400
|
0.00022
|
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=)
|
rs201475256
|
0.00022
|
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)
|
rs182452385
|
0.00022
|
NM_032119.4(ADGRV1):c.2734+18T>G
|
rs372642748
|
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_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)
|
rs202067248
|
0.00021
|
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)
|
rs199499672
|
0.00021
|
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_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)
|
rs138908576
|
0.00020
|
NM_032119.4(ADGRV1):c.2974A>G (p.Thr992Ala)
|
rs368163419
|
0.00020
|
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.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
NM_015404.4(WHRN):c.*187A>G
|
rs779279060
|
0.00019
|
NM_015404.4(WHRN):c.*188A>T
|
rs549537695
|
0.00019
|
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)
|
rs201555289
|
0.00019
|
NM_032119.4(ADGRV1):c.10550-7C>T
|
rs191228562
|
0.00019
|
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu)
|
rs759908554
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)
|
rs146526977
|
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.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)
|
rs146082509
|
0.00018
|
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_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)
|
rs200541858
|
0.00017
|
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)
|
rs201089046
|
0.00017
|
NM_206933.4(USH2A):c.4627+161T>C
|
rs771693146
|
0.00017
|
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)
|
rs1996552
|
0.00016
|
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=)
|
rs201453118
|
0.00016
|
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)
|
rs201800819
|
0.00016
|
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)
|
rs142617606
|
0.00016
|
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)
|
rs150406015
|
0.00016
|
NM_206933.4(USH2A):c.4627+596A>G
|
rs1036513961
|
0.00016
|
NM_206933.4(USH2A):c.4627+851A>G
|
rs779885066
|
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.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00016
|
NM_015404.4(WHRN):c.-570C>G
|
rs886073834
|
0.00015
|
NM_015404.4(WHRN):c.-581C>T
|
rs886063377
|
0.00015
|
NM_032119.4(ADGRV1):c.14320C>T (p.Leu4774Phe)
|
rs200685818
|
0.00015
|
NM_032119.4(ADGRV1):c.15497C>T (p.Thr5166Met)
|
rs375860783
|
0.00015
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00015
|
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)
|
rs142898216
|
0.00015
|
NM_206933.4(USH2A):c.2460T>C (p.Asn820=)
|
rs781373128
|
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_032119.4(ADGRV1):c.1317C>T (p.Ser439=)
|
rs368171530
|
0.00014
|
NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile)
|
rs201677553
|
0.00014
|
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)
|
rs201007778
|
0.00014
|
NM_032119.4(ADGRV1):c.5265G>A (p.Ala1755=)
|
rs189232336
|
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.15090G>A (p.Ser5030=)
|
rs397517997
|
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.7291C>T (p.Pro2431Ser)
|
rs148136966
|
0.00014
|
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
|
rs141452179
|
0.00014
|
NM_032119.4(ADGRV1):c.1510-7A>T
|
rs182260529
|
0.00013
|
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val)
|
rs185971062
|
0.00013
|
NM_032119.4(ADGRV1):c.8034T>G (p.Thr2678=)
|
rs200712751
|
0.00013
|
NM_032119.4(ADGRV1):c.8064C>T (p.Ser2688=)
|
rs75195840
|
0.00013
|
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.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_032119.4(ADGRV1):c.12476A>C (p.His4159Pro)
|
rs200805176
|
0.00012
|
NM_032119.4(ADGRV1):c.13293T>C (p.Tyr4431=)
|
rs375468899
|
0.00012
|
NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala)
|
rs368806892
|
0.00012
|
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.6387A>G (p.Thr2129=)
|
rs150282853
|
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_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys)
|
rs200644004
|
0.00011
|
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg)
|
rs201480340
|
0.00011
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809
|
0.00011
|
NM_032119.4(ADGRV1):c.18710C>T (p.Thr6237Met)
|
rs376428763
|
0.00011
|
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp)
|
rs200389929
|
0.00011
|
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)
|
rs771410054
|
0.00011
|
NM_032119.4(ADGRV1):c.4770A>G (p.Ser1590=)
|
rs144401211
|
0.00011
|
NM_032119.4(ADGRV1):c.6228C>T (p.Ile2076=)
|
rs376325671
|
0.00011
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
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.2633G>A (p.Arg878His)
|
rs200124505
|
0.00011
|
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu)
|
rs141339026
|
0.00011
|
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys)
|
rs148049006
|
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_015404.4(WHRN):c.1999G>A (p.Ala667Thr)
|
rs202161016
|
0.00010
|
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)
|
rs143763650
|
0.00010
|
NM_015404.4(WHRN):c.2571G>T (p.Gln857His)
|
rs776712642
|
0.00010
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu)
|
rs190427962
|
0.00010
|
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His)
|
rs199798095
|
0.00010
|
NM_032119.4(ADGRV1):c.15829C>T (p.Arg5277Cys)
|
rs375450242
|
0.00010
|
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu)
|
rs200530343
|
0.00010
|
NM_032119.4(ADGRV1):c.18906C>T (p.Ala6302=)
|
rs369528456
|
0.00010
|
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe)
|
rs141681122
|
0.00010
|
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.14567A>G (p.Asn4856Ser)
|
rs139799843
|
0.00010
|
NM_206933.4(USH2A):c.14892C>T (p.Tyr4964=)
|
rs149877542
|
0.00010
|
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)
|
rs149506333
|
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_015404.4(WHRN):c.2690A>C (p.Asp897Ala)
|
rs781583583
|
0.00009
|
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)
|
rs375632680
|
0.00009
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035
|
0.00009
|
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu)
|
rs373862154
|
0.00009
|
NM_032119.4(ADGRV1):c.18629C>T (p.Pro6210Leu)
|
rs749622020
|
0.00009
|
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)
|
rs727504307
|
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.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.2414G>C (p.Gly805Ala)
|
rs587783023
|
0.00009
|
NM_206933.4(USH2A):c.2707G>T (p.Asp903Tyr)
|
rs180994250
|
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.5367A>G (p.Leu1789=)
|
rs138064171
|
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.9439T>C (p.Trp3147Arg)
|
rs139649540
|
0.00009
|
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His)
|
rs200726531
|
0.00009
|
NM_032119.4(ADGRV1):c.*193G>A
|
rs369242510
|
0.00008
|
NM_032119.4(ADGRV1):c.1071G>A (p.Ser357=)
|
rs756805245
|
0.00008
|
NM_032119.4(ADGRV1):c.13550T>C (p.Ile4517Thr)
|
rs748263327
|
0.00008
|
NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala)
|
rs757135353
|
0.00008
|
NM_032119.4(ADGRV1):c.5657C>G (p.Thr1886Arg)
|
rs199959482
|
0.00008
|
NM_032119.4(ADGRV1):c.9448-14G>A
|
rs370196445
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
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.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.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_015404.4(WHRN):c.-505C>T
|
rs987306942
|
0.00007
|
NM_015404.4(WHRN):c.1349G>A (p.Arg450His)
|
rs200377723
|
0.00007
|
NM_015404.4(WHRN):c.1716C>T (p.Thr572=)
|
rs760471578
|
0.00007
|
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=)
|
rs182626712
|
0.00007
|
NM_032119.4(ADGRV1):c.17033G>C (p.Gly5678Ala)
|
rs754164679
|
0.00007
|
NM_032119.4(ADGRV1):c.18153-13A>T
|
rs750471995
|
0.00007
|
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)
|
rs756414393
|
0.00007
|
NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=)
|
rs566196345
|
0.00007
|
NM_032119.4(ADGRV1):c.6951+13G>A
|
rs143356203
|
0.00007
|
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.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.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
NM_015404.4(WHRN):c.*339C>A
|
rs774074739
|
0.00006
|
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn)
|
rs369521178
|
0.00006
|
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys)
|
rs45530335
|
0.00006
|
NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys)
|
rs750834235
|
0.00006
|
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu)
|
rs200354989
|
0.00006
|
NM_015404.4(WHRN):c.695A>C (p.His232Pro)
|
rs533374297
|
0.00006
|
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser)
|
rs397517420
|
0.00006
|
NM_032119.4(ADGRV1):c.12786C>T (p.Ser4262=)
|
rs201777525
|
0.00006
|
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln)
|
rs534266547
|
0.00006
|
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys)
|
rs746621216
|
0.00006
|
NM_032119.4(ADGRV1):c.17204+4A>G
|
rs376691612
|
0.00006
|
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)
|
rs757696771
|
0.00006
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys)
|
rs202151375
|
0.00006
|
NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=)
|
rs374348614
|
0.00006
|
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=)
|
rs200412477
|
0.00006
|
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.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.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.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.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.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.184G>A (p.Asp62Asn)
|
rs567937233
|
0.00006
|
NM_206933.4(USH2A):c.1A>G (p.Met1Val)
|
rs924627806
|
0.00006
|
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile)
|
rs199571930
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_206933.4(USH2A):c.4627+510G>A
|
rs941646674
|
0.00006
|
NM_206933.4(USH2A):c.4886-12C>T
|
rs199823130
|
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.6325+7390C>T
|
rs207461108
|
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.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_001195263.2(PDZD7):c.562C>A (p.Arg188Ser)
|
rs368583838
|
0.00005
|
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln)
|
rs368026275
|
0.00005
|
NM_015404.4(WHRN):c.*583C>T
|
rs567156879
|
0.00005
|
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val)
|
rs141168514
|
0.00005
|
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp)
|
rs532839486
|
0.00005
|
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val)
|
rs765672841
|
0.00005
|
NM_032119.4(ADGRV1):c.16308C>T (p.Thr5436=)
|
rs137853917
|
0.00005
|
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp)
|
rs376505416
|
0.00005
|
NM_032119.4(ADGRV1):c.170G>A (p.Arg57Lys)
|
rs956307189
|
0.00005
|
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met)
|
rs377173958
|
0.00005
|
NM_032119.4(ADGRV1):c.18228C>T (p.Phe6076=)
|
rs562067191
|
0.00005
|
NM_032119.4(ADGRV1):c.362C>T (p.Pro121Leu)
|
rs200730114
|
0.00005
|
NM_032119.4(ADGRV1):c.3996A>G (p.Gly1332=)
|
rs763406021
|
0.00005
|
NM_032119.4(ADGRV1):c.5522G>A (p.Arg1841His)
|
rs757053598
|
0.00005
|
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu)
|
rs771317730
|
0.00005
|
NM_032119.4(ADGRV1):c.7527A>G (p.Gln2509=)
|
rs772103054
|
0.00005
|
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)
|
rs376318779
|
0.00005
|
NM_206933.4(USH2A):c.10426A>C (p.Ile3476Leu)
|
rs1038876830
|
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.1346G>A (p.Arg449His)
|
rs766715882
|
0.00005
|
NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg)
|
rs201864716
|
0.00005
|
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=)
|
rs370364142
|
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.2792G>A (p.Cys931Tyr)
|
rs145383772
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
NM_206933.4(USH2A):c.4627+10T>C
|
rs148657311
|
0.00005
|
NM_206933.4(USH2A):c.4627+610G>A
|
rs886045947
|
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.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.9460G>A (p.Ala3154Thr)
|
rs150266899
|
0.00005
|
NM_015404.4(WHRN):c.1555A>G (p.Met519Val)
|
rs768008029
|
0.00004
|
NM_015404.4(WHRN):c.1626+8T>G
|
rs547616329
|
0.00004
|
NM_015404.4(WHRN):c.933A>C (p.Pro311=)
|
rs569159249
|
0.00004
|
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe)
|
rs780855079
|
0.00004
|
NM_032119.4(ADGRV1):c.*17C>T
|
rs767529084
|
0.00004
|
NM_032119.4(ADGRV1):c.11760C>T (p.Gly3920=)
|
rs374165491
|
0.00004
|
NM_032119.4(ADGRV1):c.12008T>C (p.Ile4003Thr)
|
rs376911431
|
0.00004
|
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)
|
rs550815037
|
0.00004
|
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu)
|
rs765063091
|
0.00004
|
NM_032119.4(ADGRV1):c.14043+7C>T
|
rs563519322
|
0.00004
|
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr)
|
rs376376418
|
0.00004
|
NM_032119.4(ADGRV1):c.15394G>A (p.Gly5132Arg)
|
rs199579753
|
0.00004
|
NM_032119.4(ADGRV1):c.17667C>G (p.His5889Gln)
|
rs56382582
|
0.00004
|
NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=)
|
rs752223599
|
0.00004
|
NM_032119.4(ADGRV1):c.2330A>C (p.Glu777Ala)
|
rs78627723
|
0.00004
|
NM_032119.4(ADGRV1):c.2590G>A (p.Gly864Arg)
|
rs572283380
|
0.00004
|
NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=)
|
rs201516498
|
0.00004
|
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln)
|
rs199735068
|
0.00004
|
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys)
|
rs766007827
|
0.00004
|
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp)
|
rs370432538
|
0.00004
|
NM_032119.4(ADGRV1):c.4851T>C (p.Thr1617=)
|
rs368303691
|
0.00004
|
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg)
|
rs200974394
|
0.00004
|
NM_032119.4(ADGRV1):c.6795C>T (p.Leu2265=)
|
rs760814922
|
0.00004
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762
|
0.00004
|
NM_032119.4(ADGRV1):c.7684C>A (p.Gln2562Lys)
|
rs746214033
|
0.00004
|
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys)
|
rs751129081
|
0.00004
|
NM_206933.4(USH2A):c.-305C>G
|
rs1430551833
|
0.00004
|
NM_206933.4(USH2A):c.-355C>G
|
rs868097748
|
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.11134G>A (p.Val3712Ile)
|
rs201951918
|
0.00004
|
NM_206933.4(USH2A):c.11435A>G (p.Asn3812Ser)
|
rs776876392
|
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.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.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.13812-5T>C
|
rs371583628
|
0.00004
|
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys)
|
rs139997881
|
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.14961G>A (p.Ala4987=)
|
rs568581229
|
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.1601A>G (p.Tyr534Cys)
|
rs570446209
|
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.2167+15A>G
|
rs779599960
|
0.00004
|
NM_206933.4(USH2A):c.22T>C (p.Leu8=)
|
rs778803503
|
0.00004
|
NM_206933.4(USH2A):c.2398G>A (p.Ala800Thr)
|
rs375656256
|
0.00004
|
NM_206933.4(USH2A):c.2628T>A (p.Gly876=)
|
rs768522338
|
0.00004
|
NM_206933.4(USH2A):c.2726C>A (p.Pro909His)
|
rs752748453
|
0.00004
|
NM_206933.4(USH2A):c.2777G>A (p.Arg926His)
|
rs146916397
|
0.00004
|
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)
|
rs557642490
|
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.3937A>G (p.Asn1313Asp)
|
rs540537272
|
0.00004
|
NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr)
|
rs752059469
|
0.00004
|
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His)
|
rs770394440
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
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.6765C>T (p.Asp2255=)
|
rs767205760
|
0.00004
|
NM_206933.4(USH2A):c.723T>C (p.Thr241=)
|
rs571744403
|
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.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.8682-9A>G
|
rs372347027
|
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.9570+1G>A
|
rs760225886
|
0.00004
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
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_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter)
|
rs979094623
|
0.00003
|
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu)
|
rs761666704
|
0.00003
|
NM_015404.4(WHRN):c.*149A>G
|
rs563858014
|
0.00003
|
NM_015404.4(WHRN):c.-23C>G
|
rs770413185
|
0.00003
|
NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu)
|
rs763451514
|
0.00003
|
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu)
|
rs768714315
|
0.00003
|
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr)
|
rs143464875
|
0.00003
|
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu)
|
rs760261757
|
0.00003
|
NM_015404.4(WHRN):c.762C>T (p.His254=)
|
rs201171374
|
0.00003
|
NM_032119.4(ADGRV1):c.*124C>T
|
rs547829526
|
0.00003
|
NM_032119.4(ADGRV1):c.*270C>A
|
rs1415320521
|
0.00003
|
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)
|
rs369793306
|
0.00003
|
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu)
|
rs200957385
|
0.00003
|
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu)
|
rs200130204
|
0.00003
|
NM_032119.4(ADGRV1):c.1578G>T (p.Gln526His)
|
rs199701878
|
0.00003
|
NM_032119.4(ADGRV1):c.15830G>A (p.Arg5277His)
|
rs747856236
|
0.00003
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306
|
0.00003
|
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn)
|
rs772117132
|
0.00003
|
NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val)
|
rs201767389
|
0.00003
|
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)
|
rs201073459
|
0.00003
|
NM_032119.4(ADGRV1):c.17595-4C>T
|
rs762535387
|
0.00003
|
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=)
|
rs376904160
|
0.00003
|
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)
|
rs547076322
|
0.00003
|
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=)
|
rs759771981
|
0.00003
|
NM_032119.4(ADGRV1):c.3928A>C (p.Thr1310Pro)
|
rs771051473
|
0.00003
|
NM_032119.4(ADGRV1):c.4118C>T (p.Ala1373Val)
|
rs187139957
|
0.00003
|
NM_032119.4(ADGRV1):c.449A>G (p.Asn150Ser)
|
rs775440063
|
0.00003
|
NM_032119.4(ADGRV1):c.4878C>T (p.Asp1626=)
|
rs755906427
|
0.00003
|
NM_032119.4(ADGRV1):c.5313+4A>G
|
rs748976832
|
0.00003
|
NM_032119.4(ADGRV1):c.5665G>A (p.Val1889Ile)
|
rs760468429
|
0.00003
|
NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile)
|
rs759954556
|
0.00003
|
NM_032119.4(ADGRV1):c.8386+12T>C
|
rs780022610
|
0.00003
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
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.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter)
|
rs749702843
|
0.00003
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)
|
rs777465132
|
0.00003
|
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala)
|
rs760024584
|
0.00003
|
NM_206933.4(USH2A):c.11580C>T (p.Val3860=)
|
rs762253687
|
0.00003
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
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.13250A>G (p.Tyr4417Cys)
|
rs794727826
|
0.00003
|
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)
|
rs141696914
|
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.14350G>A (p.Glu4784Lys)
|
rs746837034
|
0.00003
|
NM_206933.4(USH2A):c.1449G>A (p.Thr483=)
|
rs755603663
|
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.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.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val)
|
rs768141777
|
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.4627+686T>A
|
rs977631162
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
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.5941A>G (p.Arg1981Gly)
|
rs775877218
|
0.00003
|
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)
|
rs370597096
|
0.00003
|
NM_206933.4(USH2A):c.627G>A (p.Lys209=)
|
rs146402815
|
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.7451+3G>A
|
rs397518030
|
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.7965G>A (p.Glu2655=)
|
rs571110005
|
0.00003
|
NM_206933.4(USH2A):c.8176G>A (p.Gly2726Arg)
|
rs1048653046
|
0.00003
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
0.00003
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
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.9583G>A (p.Gly3195Arg)
|
rs149027999
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_206933.4(USH2A):c.9990T>C (p.Asn3330=)
|
rs762565385
|
0.00003
|
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)
|
rs769233119
|
0.00003
|
NM_015404.4(WHRN):c.1227C>T (p.Ala409=)
|
rs758129253
|
0.00002
|
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala)
|
rs556585167
|
0.00002
|
NM_015404.4(WHRN):c.2234G>A (p.Arg745His)
|
rs555619169
|
0.00002
|
NM_015404.4(WHRN):c.324A>G (p.Gln108=)
|
rs763014940
|
0.00002
|
NM_015404.4(WHRN):c.549G>A (p.Arg183=)
|
rs147477922
|
0.00002
|
NM_032119.4(ADGRV1):c.10362A>G (p.Thr3454=)
|
rs1325751815
|
0.00002
|
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys)
|
rs778286042
|
0.00002
|
NM_032119.4(ADGRV1):c.10820T>C (p.Val3607Ala)
|
rs566526160
|
0.00002
|
NM_032119.4(ADGRV1):c.11954T>C (p.Ile3985Thr)
|
rs78833918
|
0.00002
|
NM_032119.4(ADGRV1):c.12536G>A (p.Arg4179Gln)
|
rs201743191
|
0.00002
|
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs)
|
rs765376986
|
0.00002
|
NM_032119.4(ADGRV1):c.1367T>C (p.Leu456Pro)
|
rs774659694
|
0.00002
|
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met)
|
rs201953675
|
0.00002
|
NM_032119.4(ADGRV1):c.15009C>T (p.Gly5003=)
|
rs375195936
|
0.00002
|
NM_032119.4(ADGRV1):c.16826A>T (p.Asp5609Val)
|
rs755988055
|
0.00002
|
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter)
|
rs747622607
|
0.00002
|
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His)
|
rs757218098
|
0.00002
|
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=)
|
rs774124713
|
0.00002
|
NM_032119.4(ADGRV1):c.18479G>T (p.Cys6160Phe)
|
rs1242164038
|
0.00002
|
NM_032119.4(ADGRV1):c.18711G>A (p.Thr6237=)
|
rs749201239
|
0.00002
|
NM_032119.4(ADGRV1):c.2926G>A (p.Val976Ile)
|
rs752969941
|
0.00002
|
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr)
|
rs376900429
|
0.00002
|
NM_032119.4(ADGRV1):c.3969T>C (p.Ser1323=)
|
rs1175349754
|
0.00002
|
NM_032119.4(ADGRV1):c.4952A>G (p.Asp1651Gly)
|
rs746118976
|
0.00002
|
NM_032119.4(ADGRV1):c.6313A>G (p.Ile2105Val)
|
rs371849392
|
0.00002
|
NM_032119.4(ADGRV1):c.6772A>G (p.Ile2258Val)
|
rs745642201
|
0.00002
|
NM_032119.4(ADGRV1):c.7202T>C (p.Met2401Thr)
|
rs997831285
|
0.00002
|
NM_032119.4(ADGRV1):c.7264C>T (p.Leu2422Phe)
|
rs748779747
|
0.00002
|
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu)
|
rs375272281
|
0.00002
|
NM_032119.4(ADGRV1):c.8778C>T (p.Tyr2926=)
|
rs375310575
|
0.00002
|
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)
|
rs267600727
|
0.00002
|
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.10145T>G (p.Val3382Gly)
|
rs1198689866
|
0.00002
|
NM_206933.4(USH2A):c.10183-12C>T
|
rs747413632
|
0.00002
|
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=)
|
rs760725818
|
0.00002
|
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)
|
rs397517966
|
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.10820A>C (p.His3607Pro)
|
rs750321557
|
0.00002
|
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)
|
rs778158900
|
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.11048-2A>G
|
rs200871041
|
0.00002
|
NM_206933.4(USH2A):c.11103T>C (p.Tyr3701=)
|
rs143453173
|
0.00002
|
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro)
|
rs201961789
|
0.00002
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
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.12451G>C (p.Asp4151His)
|
rs747947192
|
0.00002
|
NM_206933.4(USH2A):c.12457G>A (p.Ala4153Thr)
|
rs145531316
|
0.00002
|
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala)
|
rs140010020
|
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.13485T>A (p.Arg4495=)
|
rs533727047
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_206933.4(USH2A):c.13955C>A (p.Thr4652Asn)
|
rs148605973
|
0.00002
|
NM_206933.4(USH2A):c.14100C>T (p.Ser4700=)
|
rs778162193
|
0.00002
|
NM_206933.4(USH2A):c.14344-1G>T
|
rs919142559
|
0.00002
|
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=)
|
rs773859845
|
0.00002
|
NM_206933.4(USH2A):c.14658G>T (p.Lys4886Asn)
|
rs1394766722
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
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.15331_15333del (p.Thr5111del)
|
rs766970587
|
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.1582G>A (p.Asp528Asn)
|
rs551424240
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
|
rs757154662
|
0.00002
|
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr)
|
rs192119790
|
0.00002
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
NM_206933.4(USH2A):c.274T>G (p.Ser92Ala)
|
rs192918169
|
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.3666G>A (p.Ala1222=)
|
rs764479854
|
0.00002
|
NM_206933.4(USH2A):c.3980C>T (p.Thr1327Ile)
|
rs774663133
|
0.00002
|
NM_206933.4(USH2A):c.4627+850C>T
|
rs906951959
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
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.4983T>C (p.Asp1661=)
|
rs111033532
|
0.00002
|
NM_206933.4(USH2A):c.5095C>A (p.Gln1699Lys)
|
rs1351926905
|
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.565C>T (p.Arg189Cys)
|
rs370653547
|
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.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.6448G>T (p.Val2150Phe)
|
rs756234447
|
0.00002
|
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs)
|
rs1284826852
|
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.7099G>A (p.Gly2367Arg)
|
rs375744536
|
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.7517A>G (p.Tyr2506Cys)
|
rs937606032
|
0.00002
|
NM_206933.4(USH2A):c.7776A>G (p.Pro2592=)
|
rs753565758
|
0.00002
|
NM_206933.4(USH2A):c.779T>G (p.Leu260Ter)
|
rs121912598
|
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.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.8254G>A (p.Gly2752Arg)
|
rs201863550
|
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.8645G>C (p.Gly2882Ala)
|
rs527467361
|
0.00002
|
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln)
|
rs760779633
|
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.9089T>C (p.Ile3030Thr)
|
rs876658116
|
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.9400C>T (p.Arg3134Trp)
|
rs749482634
|
0.00002
|
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val)
|
rs750899958
|
0.00002
|
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp)
|
rs762076576
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_206933.4(USH2A):c.9950G>A (p.Arg3317His)
|
rs140746096
|
0.00002
|
NM_015404.4(WHRN):c.*37C>G
|
rs549195233
|
0.00001
|
NM_015404.4(WHRN):c.*51C>T
|
rs529176890
|
0.00001
|
NM_015404.4(WHRN):c.*554C>T
|
rs886063367
|
0.00001
|
NM_015404.4(WHRN):c.*613A>G
|
rs1042938459
|
0.00001
|
NM_015404.4(WHRN):c.-92C>T
|
rs1289815111
|
0.00001
|
NM_015404.4(WHRN):c.1097G>A (p.Arg366His)
|
rs763238664
|
0.00001
|
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu)
|
rs759109990
|
0.00001
|
NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg)
|
rs886063372
|
0.00001
|
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile)
|
rs373389359
|
0.00001
|
NM_015404.4(WHRN):c.1683C>T (p.Leu561=)
|
rs886063371
|
0.00001
|
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr)
|
rs750597763
|
0.00001
|
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr)
|
rs201690920
|
0.00001
|
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met)
|
rs751846994
|
0.00001
|
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu)
|
rs886063370
|
0.00001
|
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp)
|
rs545286422
|
0.00001
|
NM_015404.4(WHRN):c.2419-5C>T
|
rs767910166
|
0.00001
|
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala)
|
rs569112844
|
0.00001
|
NM_015404.4(WHRN):c.2453G>A (p.Arg818His)
|
rs762248099
|
0.00001
|
NM_015404.4(WHRN):c.2612C>T (p.Thr871Met)
|
rs140344596
|
0.00001
|
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln)
|
rs138731082
|
0.00001
|
NM_015404.4(WHRN):c.684C>T (p.Tyr228=)
|
rs377363590
|
0.00001
|
NM_015404.4(WHRN):c.690C>T (p.Thr230=)
|
rs779112096
|
0.00001
|
NM_015404.4(WHRN):c.837+5G>C
|
rs201863779
|
0.00001
|
NM_032119.4(ADGRV1):c.10053+9A>G
|
rs574636636
|
0.00001
|
NM_032119.4(ADGRV1):c.10267A>G (p.Ile3423Val)
|
rs747192045
|
0.00001
|
NM_032119.4(ADGRV1):c.10308A>T (p.Arg3436Ser)
|
rs559004744
|
0.00001
|
NM_032119.4(ADGRV1):c.10440A>T (p.Ser3480=)
|
rs781252270
|
0.00001
|
NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu)
|
rs780372483
|
0.00001
|
NM_032119.4(ADGRV1):c.10801A>G (p.Arg3601Gly)
|
rs771934458
|
0.00001
|
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile)
|
rs375025827
|
0.00001
|
NM_032119.4(ADGRV1):c.11457A>G (p.Gln3819=)
|
rs1312477726
|
0.00001
|
NM_032119.4(ADGRV1):c.12184C>T (p.Arg4062Trp)
|
rs775426944
|
0.00001
|
NM_032119.4(ADGRV1):c.12222G>A (p.Trp4074Ter)
|
rs1366388721
|
0.00001
|
NM_032119.4(ADGRV1):c.12425G>A (p.Arg4142Gln)
|
rs1047782967
|
0.00001
|
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=)
|
rs727503080
|
0.00001
|
NM_032119.4(ADGRV1):c.1252A>G (p.Thr418Ala)
|
rs749595916
|
0.00001
|
NM_032119.4(ADGRV1):c.12829C>T (p.Arg4277Ter)
|
rs1758506826
|
0.00001
|
NM_032119.4(ADGRV1):c.1309C>T (p.Arg437Trp)
|
rs765063390
|
0.00001
|
NM_032119.4(ADGRV1):c.13227C>T (p.Phe4409=)
|
rs368497021
|
0.00001
|
NM_032119.4(ADGRV1):c.13232-1G>A
|
rs764583867
|
0.00001
|
NM_032119.4(ADGRV1):c.13433+9A>G
|
rs186025461
|
0.00001
|
NM_032119.4(ADGRV1):c.13654-5C>T
|
rs367554300
|
0.00001
|
NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile)
|
rs754162988
|
0.00001
|
NM_032119.4(ADGRV1):c.13868C>T (p.Ser4623Phe)
|
rs766619723
|
0.00001
|
NM_032119.4(ADGRV1):c.1419T>G (p.Asp473Glu)
|
rs771484121
|
0.00001
|
NM_032119.4(ADGRV1):c.14546C>G (p.Thr4849Ser)
|
rs755079950
|
0.00001
|
NM_032119.4(ADGRV1):c.14972+1G>T
|
rs780011571
|
0.00001
|
NM_032119.4(ADGRV1):c.15498G>A (p.Thr5166=)
|
rs745385503
|
0.00001
|
NM_032119.4(ADGRV1):c.15560C>T (p.Ala5187Val)
|
rs758664211
|
0.00001
|
NM_032119.4(ADGRV1):c.15583C>T (p.Leu5195Phe)
|
rs1460870267
|
0.00001
|
NM_032119.4(ADGRV1):c.1707A>C (p.Gln569His)
|
rs1765206666
|
0.00001
|
NM_032119.4(ADGRV1):c.17204+12T>C
|
rs1766179569
|
0.00001
|
NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=)
|
rs766197164
|
0.00001
|
NM_032119.4(ADGRV1):c.18515A>G (p.Asn6172Ser)
|
rs774995411
|
0.00001
|
NM_032119.4(ADGRV1):c.18610G>A (p.Gly6204Ser)
|
rs745735875
|
0.00001
|
NM_032119.4(ADGRV1):c.199A>G (p.Ile67Val)
|
rs1463493906
|
0.00001
|
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)
|
rs757860505
|
0.00001
|
NM_032119.4(ADGRV1):c.2340T>C (p.Pro780=)
|
rs1486650258
|
0.00001
|
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)
|
rs373780305
|
0.00001
|
NM_032119.4(ADGRV1):c.2409G>T (p.Gly803=)
|
rs746915145
|
0.00001
|
NM_032119.4(ADGRV1):c.2539G>A (p.Asp847Asn)
|
rs1487161620
|
0.00001
|
NM_032119.4(ADGRV1):c.2666T>C (p.Ile889Thr)
|
rs780130028
|
0.00001
|
NM_032119.4(ADGRV1):c.3129G>A (p.Gly1043=)
|
rs753443586
|
0.00001
|
NM_032119.4(ADGRV1):c.3133G>C (p.Ala1045Pro)
|
rs372262361
|
0.00001
|
NM_032119.4(ADGRV1):c.3185T>C (p.Ile1062Thr)
|
rs1018814935
|
0.00001
|
NM_032119.4(ADGRV1):c.3338C>A (p.Ala1113Asp)
|
rs750334086
|
0.00001
|
NM_032119.4(ADGRV1):c.3346G>T (p.Asp1116Tyr)
|
rs761253411
|
0.00001
|
NM_032119.4(ADGRV1):c.3931A>G (p.Thr1311Ala)
|
rs776663458
|
0.00001
|
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=)
|
rs111033484
|
0.00001
|
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp)
|
rs794727329
|
0.00001
|
NM_032119.4(ADGRV1):c.4378+11T>C
|
rs1225844494
|
0.00001
|
NM_032119.4(ADGRV1):c.5207A>G (p.Asp1736Gly)
|
rs773201854
|
0.00001
|
NM_032119.4(ADGRV1):c.5521C>T (p.Arg1841Cys)
|
rs367621359
|
0.00001
|
NM_032119.4(ADGRV1):c.6062T>C (p.Met2021Thr)
|
rs1745278727
|
0.00001
|
NM_032119.4(ADGRV1):c.6235C>T (p.Leu2079Phe)
|
rs529727564
|
0.00001
|
NM_032119.4(ADGRV1):c.6469G>A (p.Val2157Met)
|
rs144723817
|
0.00001
|
NM_032119.4(ADGRV1):c.6705T>G (p.Phe2235Leu)
|
rs777260815
|
0.00001
|
NM_032119.4(ADGRV1):c.7030G>T (p.Ala2344Ser)
|
rs373807911
|
0.00001
|
NM_032119.4(ADGRV1):c.7334A>G (p.Lys2445Arg)
|
rs762036043
|
0.00001
|
NM_032119.4(ADGRV1):c.7400C>T (p.Thr2467Ile)
|
rs1746861436
|
0.00001
|
NM_032119.4(ADGRV1):c.7464G>C (p.Arg2488Ser)
|
rs766683035
|
0.00001
|
NM_032119.4(ADGRV1):c.7754T>C (p.Ile2585Thr)
|
rs1229881653
|
0.00001
|
NM_032119.4(ADGRV1):c.777T>C (p.Asn259=)
|
rs775845081
|
0.00001
|
NM_032119.4(ADGRV1):c.7866C>T (p.Val2622=)
|
rs756284324
|
0.00001
|
NM_032119.4(ADGRV1):c.8068A>G (p.Thr2690Ala)
|
rs765530046
|
0.00001
|
NM_032119.4(ADGRV1):c.8169A>G (p.Gln2723=)
|
rs1026514423
|
0.00001
|
NM_032119.4(ADGRV1):c.8287-1G>C
|
rs1359811582
|
0.00001
|
NM_032119.4(ADGRV1):c.8668A>G (p.Ile2890Val)
|
rs768539100
|
0.00001
|
NM_032119.4(ADGRV1):c.8769T>C (p.Asn2923=)
|
rs753086932
|
0.00001
|
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val)
|
rs759038879
|
0.00001
|
NM_032119.4(ADGRV1):c.9314G>A (p.Arg3105Gln)
|
rs762116905
|
0.00001
|
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)
|
rs533540279
|
0.00001
|
NM_032119.4(ADGRV1):c.961G>T (p.Asp321Tyr)
|
rs779442763
|
0.00001
|
NM_032119.4(ADGRV1):c.9765G>A (p.Val3255=)
|
rs1051488396
|
0.00001
|
NM_032119.4(ADGRV1):c.9907-1G>A
|
rs769286352
|
0.00001
|
NM_032119.4(ADGRV1):c.9992A>G (p.Asn3331Ser)
|
rs757644038
|
0.00001
|
NM_206933.4(USH2A):c.-204-15G>A
|
rs1162064882
|
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.10093C>G (p.Pro3365Ala)
|
rs1661940699
|
0.00001
|
NM_206933.4(USH2A):c.10112G>A (p.Cys3371Tyr)
|
rs1661940280
|
0.00001
|
NM_206933.4(USH2A):c.10151C>A (p.Ser3384Tyr)
|
rs553202000
|
0.00001
|
NM_206933.4(USH2A):c.10182+5T>C
|
rs1049628868
|
0.00001
|
NM_206933.4(USH2A):c.10196G>A (p.Cys3399Tyr)
|
rs765920408
|
0.00001
|
NM_206933.4(USH2A):c.10311G>A (p.Lys3437=)
|
rs777618025
|
0.00001
|
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
|
rs149485593
|
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.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.10586-2A>G
|
rs370327669
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)
|
rs111033265
|
0.00001
|
NM_206933.4(USH2A):c.10763G>C (p.Gly3588Ala)
|
rs567356824
|
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.10933G>A (p.Val3645Ile)
|
rs397517970
|
0.00001
|
NM_206933.4(USH2A):c.10950A>G (p.Pro3650=)
|
rs372690499
|
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.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.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+3A>T
|
rs753886165
|
0.00001
|
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)
|
rs111033395
|
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.11596G>C (p.Ala3866Pro)
|
rs1571639421
|
0.00001
|
NM_206933.4(USH2A):c.11631A>C (p.Ala3877=)
|
rs1318290007
|
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.11822G>A (p.Arg3941Gln)
|
rs727504582
|
0.00001
|
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303
|
0.00001
|
NM_206933.4(USH2A):c.11887G>A (p.Ala3963Thr)
|
rs541566194
|
0.00001
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala)
|
rs727505322
|
0.00001
|
NM_206933.4(USH2A):c.12045C>T (p.Thr4015=)
|
rs755924483
|
0.00001
|
NM_206933.4(USH2A):c.12067-1G>A
|
rs397517977
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys)
|
rs772969352
|
0.00001
|
NM_206933.4(USH2A):c.12149G>A (p.Gly4050Glu)
|
rs867523397
|
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.12273G>A (p.Met4091Ile)
|
rs751834009
|
0.00001
|
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg)
|
rs1174206381
|
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.12415G>C (p.Gly4139Arg)
|
rs138866017
|
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.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.12696A>G (p.Pro4232=)
|
rs113805451
|
0.00001
|
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)
|
rs397517982
|
0.00001
|
NM_206933.4(USH2A):c.12876T>C (p.Asn4292=)
|
rs762246558
|
0.00001
|
NM_206933.4(USH2A):c.12929G>A (p.Ser4310Asn)
|
rs1482821042
|
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.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.13236G>A (p.Gln4412=)
|
rs1013791595
|
0.00001
|
NM_206933.4(USH2A):c.1327A>C (p.Asn443His)
|
rs775075026
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13386C>T (p.Ile4462=)
|
rs187707339
|
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.13483C>T (p.Arg4495Cys)
|
rs746221227
|
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.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
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.13778C>T (p.Ser4593Leu)
|
rs1202573136
|
0.00001
|
NM_206933.4(USH2A):c.13802C>T (p.Pro4601Leu)
|
rs1176215017
|
0.00001
|
NM_206933.4(USH2A):c.13811+1G>A
|
rs1177257719
|
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.1394C>T (p.Pro465Leu)
|
rs2037663532
|
0.00001
|
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)
|
rs1553250627
|
0.00001
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
NM_206933.4(USH2A):c.14086T>C (p.Ser4696Pro)
|
rs751019233
|
0.00001
|
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser)
|
rs369513607
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
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.14328T>G (p.His4776Gln)
|
rs1220949681
|
0.00001
|
NM_206933.4(USH2A):c.14335G>A (p.Glu4779Lys)
|
rs769420341
|
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.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp)
|
rs757728612
|
0.00001
|
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
|
rs374096293
|
0.00001
|
NM_206933.4(USH2A):c.14791+5G>T
|
rs1235430504
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
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.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.14986A>T (p.Ile4996Phe)
|
rs41308423
|
0.00001
|
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile)
|
rs397517996
|
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.15142G>A (p.Ala5048Thr)
|
rs371182500
|
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.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
NM_206933.4(USH2A):c.15265T>C (p.Leu5089=)
|
rs746439490
|
0.00001
|
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys)
|
rs759899869
|
0.00001
|
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)
|
rs768813865
|
0.00001
|
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)
|
rs1415484067
|
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.15546C>T (p.Asn5182=)
|
rs546494522
|
0.00001
|
NM_206933.4(USH2A):c.15577G>T (p.Glu5193Ter)
|
rs1365989569
|
0.00001
|
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys)
|
rs751811618
|
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.1761C>T (p.Asn587=)
|
rs1571668714
|
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.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)
|
rs781223647
|
0.00001
|
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser)
|
rs759589036
|
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.2031G>T (p.Gln677His)
|
rs753305011
|
0.00001
|
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile)
|
rs377254440
|
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.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser)
|
rs776095235
|
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.2479A>C (p.Asn827His)
|
rs876658114
|
0.00001
|
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)
|
rs727503736
|
0.00001
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)
|
rs1037325220
|
0.00001
|
NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro)
|
rs769767476
|
0.00001
|
NM_206933.4(USH2A):c.2643G>A (p.Gln881=)
|
rs1286317611
|
0.00001
|
NM_206933.4(USH2A):c.2720C>T (p.Thr907Ile)
|
rs932726287
|
0.00001
|
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met)
|
rs772211390
|
0.00001
|
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)
|
rs749621457
|
0.00001
|
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)
|
rs1394737087
|
0.00001
|
NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg)
|
rs376591221
|
0.00001
|
NM_206933.4(USH2A):c.2903G>T (p.Gly968Val)
|
rs1348183693
|
0.00001
|
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu)
|
rs779811357
|
0.00001
|
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr)
|
rs1391032458
|
0.00001
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
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.3317-2A>G
|
rs2034951427
|
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.3405G>C (p.Arg1135Ser)
|
rs372843685
|
0.00001
|
NM_206933.4(USH2A):c.3446A>T (p.Glu1149Val)
|
rs1318186049
|
0.00001
|
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)
|
rs139156019
|
0.00001
|
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)
|
rs727503734
|
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.3762C>A (p.Ile1254=)
|
rs533691745
|
0.00001
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
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.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.3969G>A (p.Met1323Ile)
|
rs886045953
|
0.00001
|
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn)
|
rs760233343
|
0.00001
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00001
|
NM_206933.4(USH2A):c.419C>A (p.Pro140His)
|
rs759474177
|
0.00001
|
NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro)
|
rs373130157
|
0.00001
|
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser)
|
rs776039417
|
0.00001
|
NM_206933.4(USH2A):c.4366G>A (p.Ala1456Thr)
|
rs886045950
|
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.441A>G (p.Ser147=)
|
rs773525654
|
0.00001
|
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile)
|
rs961580455
|
0.00001
|
NM_206933.4(USH2A):c.4490C>T (p.Ser1497Phe)
|
rs755482100
|
0.00001
|
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)
|
rs373599651
|
0.00001
|
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
|
rs769198746
|
0.00001
|
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
NM_206933.4(USH2A):c.4679C>A (p.Ala1560Glu)
|
rs1388648004
|
0.00001
|
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His)
|
rs552928943
|
0.00001
|
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn)
|
rs775241651
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)
|
rs397518017
|
0.00001
|
NM_206933.4(USH2A):c.4870G>T (p.Asp1624Tyr)
|
rs1418438946
|
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.5111A>T (p.Asn1704Ile)
|
rs764080143
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys)
|
rs375519871
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.5298+5G>A
|
rs1176314553
|
0.00001
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu)
|
rs527598451
|
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.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.5572+1G>A
|
rs775293551
|
0.00001
|
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly)
|
rs760543320
|
0.00001
|
NM_206933.4(USH2A):c.5732G>A (p.Gly1911Glu)
|
rs763747123
|
0.00001
|
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys)
|
rs529355834
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.5776+7T>G
|
rs397518020
|
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.5945G>A (p.Gly1982Asp)
|
rs765590481
|
0.00001
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys)
|
rs777886737
|
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.6119G>C (p.Cys2040Ser)
|
rs748371326
|
0.00001
|
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn)
|
rs759545289
|
0.00001
|
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala)
|
rs754703964
|
0.00001
|
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn)
|
rs727503724
|
0.00001
|
NM_206933.4(USH2A):c.651G>T (p.Gln217His)
|
rs758696021
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala)
|
rs887441664
|
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.6709G>T (p.Asp2237Tyr)
|
rs1177455978
|
0.00001
|
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys)
|
rs774634733
|
0.00001
|
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr)
|
rs750302027
|
0.00001
|
NM_206933.4(USH2A):c.6780C>G (p.Ser2260=)
|
rs762148018
|
0.00001
|
NM_206933.4(USH2A):c.6805+195T>G
|
rs1193295201
|
0.00001
|
NM_206933.4(USH2A):c.6806-3C>T
|
rs775703386
|
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.6889G>T (p.Ala2297Ser)
|
rs150634036
|
0.00001
|
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe)
|
rs766809837
|
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.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.7105T>G (p.Phe2369Val)
|
rs1475753019
|
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.7218C>A (p.Thr2406=)
|
rs372817698
|
0.00001
|
NM_206933.4(USH2A):c.7230A>T (p.Val2410=)
|
rs202162396
|
0.00001
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
0.00001
|
NM_206933.4(USH2A):c.7301-1G>A
|
rs1438496892
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
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.7452-3C>T
|
rs768233894
|
0.00001
|
NM_206933.4(USH2A):c.7461C>T (p.Ser2487=)
|
rs769678033
|
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.7681G>A (p.Gly2561Arg)
|
rs781685696
|
0.00001
|
NM_206933.4(USH2A):c.7728G>C (p.Leu2576Phe)
|
rs151037142
|
0.00001
|
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg)
|
rs397518032
|
0.00001
|
NM_206933.4(USH2A):c.7880T>A (p.Ile2627Asn)
|
rs745480430
|
0.00001
|
NM_206933.4(USH2A):c.7952A>G (p.Asn2651Ser)
|
rs745559540
|
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.8021C>A (p.Thr2674Asn)
|
rs754677752
|
0.00001
|
NM_206933.4(USH2A):c.8095C>T (p.Arg2699Trp)
|
rs771526931
|
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.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.8212G>A (p.Asp2738Asn)
|
rs750687826
|
0.00001
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=)
|
rs727505274
|
0.00001
|
NM_206933.4(USH2A):c.82A>G (p.Ile28Val)
|
rs753515909
|
0.00001
|
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg)
|
rs397518037
|
0.00001
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)
|
rs749452910
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu)
|
rs373811292
|
0.00001
|
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)
|
rs762358589
|
0.00001
|
NM_206933.4(USH2A):c.8824G>A (p.Asp2942Asn)
|
rs763232931
|
0.00001
|
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)
|
rs760302201
|
0.00001
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)
|
rs761359720
|
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.8993C>G (p.Ser2998Cys)
|
rs559922535
|
0.00001
|
NM_206933.4(USH2A):c.9056-2A>G
|
rs754970095
|
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.9095A>G (p.Asn3032Ser)
|
rs768579751
|
0.00001
|
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys)
|
rs770418427
|
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.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9259-14A>C
|
rs561590242
|
0.00001
|
NM_206933.4(USH2A):c.9372-1G>A
|
rs1558111861
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
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.9565G>T (p.Ala3189Ser)
|
rs752996514
|
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.9695C>A (p.Pro3232Gln)
|
rs774654676
|
0.00001
|
NM_206933.4(USH2A):c.9714T>C (p.Ser3238=)
|
rs979950007
|
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.9875A>G (p.Gln3292Arg)
|
rs1243226250
|
0.00001
|
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe)
|
rs1662221668
|
0.00001
|
NM_206933.4(USH2A):c.9906C>T (p.Asn3302=)
|
rs757439664
|
0.00001
|
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr)
|
rs983763783
|
0.00001
|
NM_206933.4(USH2A):c.9959-1G>A
|
rs970237364
|
0.00001
|
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly)
|
rs766658893
|
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.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
GRCh37/hg19 1q41(chr1:216138660-216270555)
|
|
|
NC_000001.10:g.216144119_216591855del447737
|
|
|
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
|
|
|
NC_000001.11:g.(?_216108034)_(216108100_?)del
|
|
|
NC_000001.11:g.(?_216270461)_(216260162_?)del
|
|
|
NC_000001.11:g.(?_216462679)_(216462739_?)del
|
|
|
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
|
|
|
NC_000005.10:g.90118339_90119245del
|
|
|
NG_007083.1:g.371658_507674del
|
|
|
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs)
|
rs1057519225
|
|
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg)
|
rs1954240719
|
|
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro)
|
rs782396605
|
|
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)
|
rs1564634581
|
|
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)
|
rs587776894
|
|
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)
|
rs397516633
|
|
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7])
|
rs200896335
|
|
NM_001195263.2(PDZD7):c.2432G>A (p.Arg811His)
|
rs1852354254
|
|
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn)
|
rs145910584
|
|
NM_001195263.2(PDZD7):c.928+20del
|
rs77484072
|
|
NM_001317778.2(SFTPC):c.443C>T (p.Pro148Leu)
|
|
|
NM_006314.3(CNKSR1):c.851del (p.Pro284fs)
|
rs781114848
|
|
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter)
|
rs730880349
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_015404.4(WHRN):c.*126C>A
|
rs1834758281
|
|
NM_015404.4(WHRN):c.*156G>A
|
rs567661962
|
|
NM_015404.4(WHRN):c.*175C>T
|
rs1834755674
|
|
NM_015404.4(WHRN):c.*29T>G
|
rs760640463
|
|
NM_015404.4(WHRN):c.*357C>G
|
rs886063368
|
|
NM_015404.4(WHRN):c.*495T>C
|
rs954067626
|
|
NM_015404.4(WHRN):c.*633T>C
|
rs886063366
|
|
NM_015404.4(WHRN):c.-269C>A
|
rs551952938
|
|
NM_015404.4(WHRN):c.-310G>T
|
rs1844288269
|
|
NM_015404.4(WHRN):c.-314C>T
|
rs57258861
|
|
NM_015404.4(WHRN):c.-499G>A
|
rs886063375
|
|
NM_015404.4(WHRN):c.-517C>T
|
rs886063376
|
|
NM_015404.4(WHRN):c.1014A>G (p.Leu338=)
|
rs886063373
|
|
NM_015404.4(WHRN):c.1389G>T (p.Leu463=)
|
rs748769354
|
|
NM_015404.4(WHRN):c.1627-7T>G
|
rs1835163569
|
|
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro)
|
rs775066754
|
|
NM_015404.4(WHRN):c.1929G>A (p.Gln643=)
|
rs1835054839
|
|
NM_015404.4(WHRN):c.2130C>A (p.Gly710=)
|
rs781674400
|
|
NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter)
|
|
|
NM_015404.4(WHRN):c.2173G>A (p.Glu725Lys)
|
rs376805417
|
|
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln)
|
rs376805417
|
|
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val)
|
rs751455932
|
|
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter)
|
rs727504817
|
|
NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln)
|
rs1301232723
|
|
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)
|
rs150586098
|
|
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln)
|
rs727505255
|
|
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)
|
rs137852840
|
|
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala)
|
rs572312301
|
|
NM_015404.4(WHRN):c.35C>A (p.Ser12Ter)
|
|
|
NM_015404.4(WHRN):c.680G>T (p.Gly227Val)
|
rs908185393
|
|
NM_015404.4(WHRN):c.680dup (p.Tyr228fs)
|
rs1306987034
|
|
NM_015404.4(WHRN):c.737del (p.Pro246fs)
|
rs1589229634
|
|
NM_015404.4(WHRN):c.837+1G>A
|
rs2133130286
|
|
NM_015404.4(WHRN):c.856dup (p.Asp286fs)
|
rs1064794551
|
|
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp)
|
rs143165834
|
|
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser)
|
rs1362644811
|
|
NM_022124.6(CDH23):c.9077+1G>A
|
rs1841885880
|
|
NM_032119.3:c.16079-1455_c.16196+155del
|
|
|
NM_032119.4(ADGRV1):c.*18G>C
|
rs368671859
|
|
NM_032119.4(ADGRV1):c.10198C>T (p.Gln3400Ter)
|
|
|
NM_032119.4(ADGRV1):c.10264G>C (p.Ala3422Pro)
|
rs2149812991
|
|
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)
|
rs1060499795
|
|
NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)
|
rs1580905929
|
|
NM_032119.4(ADGRV1):c.10517G>A (p.Arg3506Lys)
|
rs764955627
|
|
NM_032119.4(ADGRV1):c.10974+1G>A
|
rs1754560628
|
|
NM_032119.4(ADGRV1):c.10974G>C (p.Gln3658His)
|
rs794727754
|
|
NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=)
|
rs138029547
|
|
NM_032119.4(ADGRV1):c.11122-1G>C
|
rs1561660434
|
|
NM_032119.4(ADGRV1):c.11458C>A (p.Pro3820Thr)
|
rs2149973588
|
|
NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs)
|
rs1755899012
|
|
NM_032119.4(ADGRV1):c.11950A>G (p.Met3984Val)
|
rs1756212683
|
|
NM_032119.4(ADGRV1):c.12125del (p.Met4042fs)
|
rs1581041519
|
|
NM_032119.4(ADGRV1):c.12291G>A (p.Glu4097=)
|
rs1757979533
|
|
NM_032119.4(ADGRV1):c.12356C>T (p.Thr4119Ile)
|
rs1757987875
|
|
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs)
|
rs2150063224
|
|
NM_032119.4(ADGRV1):c.1239-8C>G
|
rs869312178
|
|
NM_032119.4(ADGRV1):c.12403+1G>T
|
rs527236132
|
|
NM_032119.4(ADGRV1):c.12479T>A (p.Ile4160Asn)
|
rs1455010773
|
|
NM_032119.4(ADGRV1):c.12641A>G (p.Gln4214Arg)
|
rs1758428874
|
|
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu)
|
rs571603222
|
|
NM_032119.4(ADGRV1):c.13305T>G (p.Asp4435Glu)
|
rs769915981
|
|
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=)
|
rs41311745
|
|
NM_032119.4(ADGRV1):c.13718C>T (p.Ala4573Val)
|
rs749839670
|
|
NM_032119.4(ADGRV1):c.13838A>G (p.His4613Arg)
|
rs775508830
|
|
NM_032119.4(ADGRV1):c.13897C>T (p.Gln4633Ter)
|
rs1338081758
|
|
NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter)
|
rs1561740143
|
|
NM_032119.4(ADGRV1):c.14363C>T (p.Thr4788Ile)
|
rs1194443703
|
|
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=)
|
rs727504605
|
|
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)
|
rs1581135405
|
|
NM_032119.4(ADGRV1):c.14494G>A (p.Asp4832Asn)
|
rs2150136010
|
|
NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer)
|
rs780664266
|
|
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe)
|
rs373391623
|
|
NM_032119.4(ADGRV1):c.14901T>C (p.Pro4967=)
|
rs1762032375
|
|
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn)
|
rs756275299
|
|
NM_032119.4(ADGRV1):c.15401A>G (p.Asp5134Gly)
|
rs1762354671
|
|
NM_032119.4(ADGRV1):c.15476C>T (p.Thr5159Ile)
|
rs1472004831
|
|
NM_032119.4(ADGRV1):c.15492C>A (p.Ser5164Arg)
|
rs771447233
|
|
NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs)
|
rs1581196586
|
|
NM_032119.4(ADGRV1):c.15496A>T (p.Thr5166Ser)
|
rs1762365729
|
|
NM_032119.4(ADGRV1):c.15697A>G (p.Met5233Val)
|
rs937520838
|
|
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter)
|
rs527236131
|
|
NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter)
|
rs1561416879
|
|
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter)
|
rs377650415
|
|
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)
|
rs1561790371
|
|
NM_032119.4(ADGRV1):c.16197-1G>T
|
rs1561805689
|
|
NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=)
|
rs1765197280
|
|
NM_032119.4(ADGRV1):c.16337G>C (p.Cys5446Ser)
|
rs1385789921
|
|
NM_032119.4(ADGRV1):c.16677T>C (p.Phe5559=)
|
rs1765343575
|
|
NM_032119.4(ADGRV1):c.1678A>G (p.Ile560Val)
|
rs1765203369
|
|
NM_032119.4(ADGRV1):c.17017A>C (p.Lys5673Gln)
|
rs41303350
|
|
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)
|
rs41303350
|
|
NM_032119.4(ADGRV1):c.17024C>T (p.Thr5675Ile)
|
rs1766156572
|
|
NM_032119.4(ADGRV1):c.17188G>T (p.Gly5730Cys)
|
rs745645525
|
|
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter)
|
rs1561843914
|
|
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn)
|
rs749894314
|
|
NM_032119.4(ADGRV1):c.17455-6T>C
|
rs773817946
|
|
NM_032119.4(ADGRV1):c.17460A>G (p.Leu5820=)
|
rs1766790878
|
|
NM_032119.4(ADGRV1):c.17461T>C (p.Ser5821Pro)
|
|
|
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs)
|
rs1766797963
|
|
NM_032119.4(ADGRV1):c.17974-1G>C
|
rs1581711527
|
|
NM_032119.4(ADGRV1):c.18082C>T (p.Leu6028Phe)
|
|
|
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)
|
rs121909763
|
|
NM_032119.4(ADGRV1):c.18433-13T>C
|
rs1313679502
|
|
NM_032119.4(ADGRV1):c.18433-17_18433-16insCT
|
rs1554239805
|
|
NM_032119.4(ADGRV1):c.18516T>C (p.Asn6172=)
|
rs1458060011
|
|
NM_032119.4(ADGRV1):c.18668A>C (p.Gln6223Pro)
|
rs756976267
|
|
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer)
|
rs796051865
|
|
NM_032119.4(ADGRV1):c.18803-4G>T
|
rs80335659
|
|
NM_032119.4(ADGRV1):c.2241-2A>G
|
rs929034631
|
|
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs)
|
rs796051866
|
|
NM_032119.4(ADGRV1):c.2301G>T (p.Leu767Phe)
|
rs375652742
|
|
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter)
|
rs1561441451
|
|
NM_032119.4(ADGRV1):c.2412C>T (p.Ser804=)
|
rs1393079124
|
|
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs)
|
rs1580567084
|
|
NM_032119.4(ADGRV1):c.2769T>C (p.Phe923=)
|
rs1767484423
|
|
NM_032119.4(ADGRV1):c.2833G>T (p.Gly945Trp)
|
rs1327028321
|
|
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)
|
rs1060499796
|
|
NM_032119.4(ADGRV1):c.3022+9G>C
|
rs1767715969
|
|
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)
|
rs1439933768
|
|
NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs)
|
rs1767988429
|
|
NM_032119.4(ADGRV1):c.3416+9A>G
|
rs1228297663
|
|
NM_032119.4(ADGRV1):c.3731T>C (p.Leu1244Ser)
|
rs1457543918
|
|
NM_032119.4(ADGRV1):c.3901G>T (p.Asp1301Tyr)
|
rs2149466957
|
|
NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)
|
|
|
NM_032119.4(ADGRV1):c.409A>G (p.Ile137Val)
|
rs575602255
|
|
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val)
|
rs1561464218
|
|
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys)
|
rs1580609185
|
|
NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter)
|
rs2149468550
|
|
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)
|
rs1580624630
|
|
NM_032119.4(ADGRV1):c.4556G>A (p.Gly1519Glu)
|
rs1300795240
|
|
NM_032119.4(ADGRV1):c.4752+2T>G
|
rs774386059
|
|
NM_032119.4(ADGRV1):c.4929+6C>A
|
rs770299827
|
|
NM_032119.4(ADGRV1):c.4930-13T>C
|
rs1772876338
|
|
NM_032119.4(ADGRV1):c.4977G>A (p.Glu1659=)
|
rs1332531282
|
|
NM_032119.4(ADGRV1):c.514A>T (p.Ile172Phe)
|
rs2152065480
|
|
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs)
|
rs796051867
|
|
NM_032119.4(ADGRV1):c.5665-231C>T
|
|
|
NM_032119.4(ADGRV1):c.5674C>T (p.His1892Tyr)
|
rs1487676914
|
|
NM_032119.4(ADGRV1):c.5739C>T (p.Leu1913=)
|
rs1445702123
|
|
NM_032119.4(ADGRV1):c.5776C>A (p.Gln1926Lys)
|
rs1449286135
|
|
NM_032119.4(ADGRV1):c.5785G>A (p.Ala1929Thr)
|
rs41311335
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335
|
|
NM_032119.4(ADGRV1):c.5800G>C (p.Glu1934Gln)
|
rs924076283
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)
|
rs41303352
|
|
NM_032119.4(ADGRV1):c.6017G>A (p.Gly2006Asp)
|
rs768201036
|
|
NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val)
|
rs768201036
|
|
NM_032119.4(ADGRV1):c.6077dup (p.Tyr2026Ter)
|
|
|
NM_032119.4(ADGRV1):c.6083C>T (p.Pro2028Leu)
|
rs764451392
|
|
NM_032119.4(ADGRV1):c.6293T>C (p.Leu2098Pro)
|
|
|
NM_032119.4(ADGRV1):c.6491-10G>A
|
rs1746236391
|
|
NM_032119.4(ADGRV1):c.6514T>C (p.Ser2172Pro)
|
rs2149615684
|
|
NM_032119.4(ADGRV1):c.6526T>A (p.Leu2176Met)
|
rs772875455
|
|
NM_032119.4(ADGRV1):c.6599C>G (p.Ser2200Cys)
|
rs771621314
|
|
NM_032119.4(ADGRV1):c.6610C>T (p.Gln2204Ter)
|
rs1053590019
|
|
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe)
|
rs1338945655
|
|
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs)
|
rs1276890742
|
|
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)
|
rs527236133
|
|
NM_032119.4(ADGRV1):c.709A>C (p.Lys237Gln)
|
rs1764885190
|
|
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)
|
rs111033452
|
|
NM_032119.4(ADGRV1):c.7255C>T (p.Pro2419Ser)
|
rs2149639504
|
|
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu)
|
rs191036195
|
|
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter)
|
rs886039893
|
|
NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs)
|
rs2149642220
|
|
NM_032119.4(ADGRV1):c.7702G>A (p.Val2568Ile)
|
rs770016069
|
|
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter)
|
rs1561543496
|
|
NM_032119.4(ADGRV1):c.7892C>G (p.Ala2631Gly)
|
rs1471310336
|
|
NM_032119.4(ADGRV1):c.7893T>C (p.Ala2631=)
|
rs1746947355
|
|
NM_032119.4(ADGRV1):c.7945+27C>A
|
rs10068473
|
|
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=)
|
rs556164327
|
|
NM_032119.4(ADGRV1):c.8156-4G>A
|
rs1228094810
|
|
NM_032119.4(ADGRV1):c.8471G>C (p.Gly2824Ala)
|
rs975296721
|
|
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val)
|
rs555466095
|
|
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs)
|
rs796051863
|
|
NM_032119.4(ADGRV1):c.8730+21dup
|
rs60522638
|
|
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs)
|
rs796051864
|
|
NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs)
|
rs2149715612
|
|
NM_032119.4(ADGRV1):c.9052T>C (p.Phe3018Leu)
|
rs769373495
|
|
NM_032119.4(ADGRV1):c.9143C>G (p.Thr3048Arg)
|
rs1749480488
|
|
NM_032119.4(ADGRV1):c.9182T>G (p.Ile3061Arg)
|
rs1749486357
|
|
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)
|
rs1580845586
|
|
NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs)
|
rs1764920338
|
|
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs)
|
rs752179149
|
|
NM_032119.4(ADGRV1):c.9624-4T>A
|
rs1750838817
|
|
NM_032119.4(ADGRV1):c.9748+2T>C
|
rs1580864592
|
|
NM_032119.4(ADGRV1):c.9763G>A (p.Val3255Met)
|
rs776345555
|
|
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter)
|
rs769215629
|
|
NM_153676.4(USH1C):c.263del (p.Val88fs)
|
rs1850961650
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
|
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692
|
|
NM_206933.2(USH2A):c.850_853delGAGA
|
|
|
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
|
|
|
NM_206933.2(USH2A):c.[2299del;4714C>T]
|
|
|
NM_206933.2:c.6326-3582_6658-1028del
|
|
|
NM_206933.4(USH2A):c.*4A>G
|
rs530405236
|
|
NM_206933.4(USH2A):c.-159G>C
|
rs886045955
|
|
NM_206933.4(USH2A):c.-181C>T
|
rs866904288
|
|
NM_206933.4(USH2A):c.-1C>G
|
rs547139318
|
|
NM_206933.4(USH2A):c.-289C>A
|
rs886045956
|
|
NM_206933.4(USH2A):c.-289C>T
|
rs886045956
|
|
NM_206933.4(USH2A):c.-4A>G
|
rs2039693971
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu)
|
rs746870063
|
|
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)
|
rs1403618793
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs)
|
|
|
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
NM_206933.4(USH2A):c.10179del (p.Met3393fs)
|
rs1553262411
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.101G>A (p.Arg34Gln)
|
rs2039690682
|
|
NM_206933.4(USH2A):c.10211del (p.Pro3404fs)
|
rs1571686349
|
|
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly)
|
rs527236140
|
|
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp)
|
rs1558097546
|
|
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn)
|
rs773660267
|
|
NM_206933.4(USH2A):c.10317_10318delinsT (p.Ile3440fs)
|
rs1553261898
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
|
|
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)
|
rs1416602859
|
|
NM_206933.4(USH2A):c.10388-1G>A
|
rs1553261478
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
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.1039_1041del (p.Asp347del)
|
rs1553250786
|
|
NM_206933.4(USH2A):c.10413A>G (p.Thr3471=)
|
rs530322386
|
|
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)
|
rs1553261469
|
|
NM_206933.4(USH2A):c.1041T>C (p.Asp347=)
|
rs2102655884
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr)
|
rs1553261464
|
|
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
|
rs771610821
|
|
NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter)
|
|
|
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)
|
rs944675223
|
|
NM_206933.4(USH2A):c.10526A>G (p.Lys3509Arg)
|
rs2102763446
|
|
NM_206933.4(USH2A):c.10534A>C (p.Asn3512His)
|
rs758985068
|
|
NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter)
|
|
|
NM_206933.4(USH2A):c.10585+1G>A
|
rs2102763351
|
|
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
|
|
|
NM_206933.4(USH2A):c.10596_10597insAT (p.Tyr3533fs)
|
rs1553261387
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
|
|
|
NM_206933.4(USH2A):c.10631T>C (p.Phe3544Ser)
|
rs2102762754
|
|
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)
|
rs910086490
|
|
NM_206933.4(USH2A):c.10666G>A (p.Gly3556Arg)
|
rs1661660762
|
|
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu)
|
rs397517968
|
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
|
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)
|
rs144560419
|
|
NM_206933.4(USH2A):c.10734T>C (p.Ser3578=)
|
rs1661658126
|
|
NM_206933.4(USH2A):c.10740+7G>A
|
rs201206110
|
|
NM_206933.4(USH2A):c.10740+7G>C
|
rs201206110
|
|
NM_206933.4(USH2A):c.10740G>C (p.Lys3580Asn)
|
rs369507534
|
|
NM_206933.4(USH2A):c.10749A>C (p.Ala3583=)
|
rs747834026
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.10779C>G (p.Ile3593Met)
|
rs781539138
|
|
NM_206933.4(USH2A):c.10842_10845del (p.Glu3614fs)
|
rs1553261118
|
|
NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter)
|
|
|
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
|
|
|
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
|
|
|
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
|
|
|
NM_206933.4(USH2A):c.11012C>T (p.Pro3671Leu)
|
rs1238814587
|
|
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)
|
rs41314534
|
|
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn)
|
rs2102742330
|
|
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
|
rs755804518
|
|
NM_206933.4(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal)
|
rs1553259182
|
|
NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter)
|
|
|
NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs)
|
rs1553259179
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)
|
rs527236139
|
|
NM_206933.4(USH2A):c.11168T>G (p.Leu3723Trp)
|
rs928040621
|
|
NM_206933.4(USH2A):c.1116A>T (p.Ser372=)
|
rs754923350
|
|
NM_206933.4(USH2A):c.11174del (p.Phe3725fs)
|
rs1571657875
|
|
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)
|
|
|
NM_206933.4(USH2A):c.11213A>T (p.Asn3738Ile)
|
rs1416382590
|
|
NM_206933.4(USH2A):c.11215C>G (p.Leu3739Val)
|
rs2102742157
|
|
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)
|
rs1571657777
|
|
NM_206933.4(USH2A):c.11228G>A (p.Ser3743Asn)
|
rs112898958
|
|
NM_206933.4(USH2A):c.11231+1G>A
|
rs111033382
|
|
NM_206933.4(USH2A):c.11231+1G>T
|
rs111033382
|
|
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)
|
rs768062696
|
|
NM_206933.4(USH2A):c.11279G>C (p.Ser3760Thr)
|
rs773373939
|
|
NM_206933.4(USH2A):c.11290dup (p.Ile3764fs)
|
rs1553259060
|
|
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310
|
|
NM_206933.4(USH2A):c.11389+14del
|
rs79494833
|
|
NM_206933.4(USH2A):c.11389+1G>A
|
rs368770647
|
|
NM_206933.4(USH2A):c.11389+1del
|
rs1414935620
|
|
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.11403_11404delinsTTT (p.Glu3802fs)
|
rs1553257707
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg)
|
rs1553250774
|
|
NM_206933.4(USH2A):c.1143+1G>A
|
rs397517974
|
|
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs)
|
rs1553257705
|
|
NM_206933.4(USH2A):c.11434_11436del (p.Asn3812del)
|
rs1553257704
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)
|
rs727505337
|
|
NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile)
|
|
|
NM_206933.4(USH2A):c.11534A>C (p.Gln3845Pro)
|
rs1553257674
|
|
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)
|
rs1553257673
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11549-5del
|
rs34565443
|
|
NM_206933.4(USH2A):c.11549-5dup
|
rs34565443
|
|
NM_206933.4(USH2A):c.11549del
|
rs1660304704
|
|
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)
|
rs1064797132
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter)
|
|
|
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met)
|
rs397517975
|
|
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)
|
rs727504714
|
|
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.11703del (p.Phe3901fs)
|
rs1553257497
|
|
NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs)
|
|
|
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
|
|
|
NM_206933.4(USH2A):c.11712-2A>C
|
rs753505333
|
|
NM_206933.4(USH2A):c.11712-2A>G
|
rs753505333
|
|
NM_206933.4(USH2A):c.11725A>G (p.Ile3909Val)
|
rs1659895227
|
|
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)
|
rs1436435041
|
|
NM_206933.4(USH2A):c.11734dup (p.Glu3912fs)
|
rs1553256587
|
|
NM_206933.4(USH2A):c.11815dup (p.Glu3939fs)
|
rs1553256576
|
|
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile)
|
rs1659890930
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.11897_12003del (p.Gln3966fs)
|
rs1659881415
|
|
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.12067-1G>C
|
rs397517977
|
|
NM_206933.4(USH2A):c.12067-31del
|
rs5780842
|
|
NM_206933.4(USH2A):c.12079C>T (p.Gln4027Ter)
|
rs527236138
|
|
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val)
|
rs141528682
|
|
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs)
|
rs1571953449
|
|
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
|
|
|
NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del)
|
rs1553252937
|
|
NM_206933.4(USH2A):c.12139_12147del (p.Asn4047_Ala4049del)
|
rs1553252931
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe)
|
|
|
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
|
|
|
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.12265G>A (p.Glu4089Lys)
|
rs1658179050
|
|
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)
|
rs2037682180
|
|
NM_206933.4(USH2A):c.12294+1G>C
|
rs111033526
|
|
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
|
rs1657997491
|
|
NM_206933.4(USH2A):c.12313_12319del (p.Asp4105fs)
|
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
NM_206933.4(USH2A):c.1233C>A (p.Asp411Glu)
|
|
|
NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)
|
|
|
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys)
|
rs757525434
|
|
NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val)
|
rs1657992951
|
|
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)
|
rs1064797131
|
|
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.12484A>G (p.Thr4162Ala)
|
rs1363933493
|
|
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)
|
rs147304271
|
|
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.1258G>A (p.Gly420Ser)
|
rs2037680211
|
|
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
|
|
|
NM_206933.4(USH2A):c.12602del (p.Gly4201fs)
|
rs1553252499
|
|
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
|
|
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
|
NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter)
|
|
|
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His)
|
rs1571949388
|
|
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)
|
rs397517981
|
|
NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly)
|
rs1553252489
|
|
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)
|
rs145830318
|
|
NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg)
|
rs1553252475
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)
|
rs1657965422
|
|
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs)
|
rs1553252469
|
|
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)
|
rs397517983
|
|
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser)
|
rs727505117
|
|
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.12910G>A (p.Glu4304Lys)
|
rs1657961774
|
|
NM_206933.4(USH2A):c.12926T>G (p.Phe4309Cys)
|
rs1657960533
|
|
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
|
|
|
NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)
|
|
|
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala)
|
rs1657955894
|
|
NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter)
|
|
|
NM_206933.4(USH2A):c.1299T>C (p.Pro433=)
|
rs1571702060
|
|
NM_206933.4(USH2A):c.13000C>T (p.Gln4334Ter)
|
rs367850936
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter)
|
rs1163061829
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305
|
|
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His)
|
rs2102665721
|
|
NM_206933.4(USH2A):c.1316T>C (p.Leu439Pro)
|
rs1558038097
|
|
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs)
|
rs1553252409
|
|
NM_206933.4(USH2A):c.13193C>G (p.Ser4398Cys)
|
rs144200261
|
|
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu)
|
rs2039690182
|
|
NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val)
|
rs763576540
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13222G>T (p.Val4408Phe)
|
rs111033500
|
|
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)
|
rs1057517533
|
|
NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe)
|
rs146240320
|
|
NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter)
|
rs1657939866
|
|
NM_206933.4(USH2A):c.1327A>G (p.Asn443Asp)
|
rs775075026
|
|
NM_206933.4(USH2A):c.1328+37_1328+40del
|
rs145313346
|
|
NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter)
|
|
|
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg)
|
rs372802465
|
|
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
|
rs775556188
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs)
|
rs1553252389
|
|
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.13374del (p.Glu4458fs)
|
rs727503715
|
|
NM_206933.4(USH2A):c.13390T>C (p.Trp4464Arg)
|
rs1403832675
|
|
NM_206933.4(USH2A):c.1340A>G (p.Tyr447Cys)
|
rs1553250638
|
|
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
|
rs1657932443
|
|
NM_206933.4(USH2A):c.13444G>A (p.Asp4482Asn)
|
rs1657930957
|
|
NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter)
|
|
|
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
|
rs1293619630
|
|
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)
|
rs1657929865
|
|
NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)
|
|
|
NM_206933.4(USH2A):c.13494_13516dup (p.Ser4506fs)
|
|
|
NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer)
|
rs1553252363
|
|
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
NM_206933.4(USH2A):c.13586C>G (p.Pro4529Arg)
|
rs754560573
|
|
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
|
rs1657920193
|
|
NM_206933.4(USH2A):c.13599del (p.Met4535fs)
|
rs2102664886
|
|
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly)
|
rs775560370
|
|
NM_206933.4(USH2A):c.13633C>T (p.Pro4545Ser)
|
rs2102664812
|
|
NM_206933.4(USH2A):c.1363A>G (p.Ser455Gly)
|
rs866877329
|
|
NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter)
|
|
|
NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter)
|
rs2102664776
|
|
NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup)
|
rs1553252347
|
|
NM_206933.4(USH2A):c.13700del (p.Leu4567fs)
|
rs1212608410
|
|
NM_206933.4(USH2A):c.13740A>G (p.Ile4580Met)
|
rs1416382135
|
|
NM_206933.4(USH2A):c.13767T>A (p.Phe4589Leu)
|
rs2102664559
|
|
NM_206933.4(USH2A):c.13776G>C (p.Gln4592His)
|
rs1350039852
|
|
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs)
|
rs1571947757
|
|
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu)
|
rs2037663922
|
|
NM_206933.4(USH2A):c.13805T>C (p.Phe4602Ser)
|
rs574442439
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13811+2T>C
|
rs766515318
|
|
NM_206933.4(USH2A):c.13811+3A>G
|
rs760716728
|
|
NM_206933.4(USH2A):c.13812-1G>A
|
rs199782530
|
|
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.13857A>G (p.Ser4619=)
|
rs373694614
|
|
NM_206933.4(USH2A):c.13876C>G (p.Gln4626Glu)
|
rs1657805631
|
|
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.1390C>T (p.Arg464Cys)
|
rs1423536179
|
|
NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs)
|
|
|
NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln)
|
rs761367363
|
|
NM_206933.4(USH2A):c.13985del (p.Gln4662fs)
|
rs1553252041
|
|
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)
|
rs1657799383
|
|
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)
|
rs1571945476
|
|
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)
|
rs397517988
|
|
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)
|
rs1064797129
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
NM_206933.4(USH2A):c.14134-9T>C
|
rs899521308
|
|
NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs)
|
rs1553250416
|
|
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp)
|
rs2102645078
|
|
NM_206933.4(USH2A):c.14173T>C (p.Trp4725Arg)
|
|
|
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)
|
rs397517989
|
|
NM_206933.4(USH2A):c.14204C>G (p.Pro4735Arg)
|
rs1333608275
|
|
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.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)
|
rs727504867
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)
|
rs781195579
|
|
NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs)
|
|
|
NM_206933.4(USH2A):c.14344-1G>A
|
rs919142559
|
|
NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs)
|
|
|
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)
|
rs1571929573
|
|
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)
|
rs1553250192
|
|
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)
|
rs1553250184
|
|
NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr)
|
rs746985615
|
|
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
|
|
|
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.14531C>A (p.Thr4844Lys)
|
rs200570742
|
|
NM_206933.4(USH2A):c.14537C>G (p.Ser4846Cys)
|
rs781558053
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14595A>G (p.Gln4865=)
|
|
|
NM_206933.4(USH2A):c.14609G>A (p.Cys4870Tyr)
|
rs2102642261
|
|
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.14649del (p.Ile4883fs)
|
rs1656901821
|
|
NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)
|
|
|
NM_206933.4(USH2A):c.14679del (p.Ala4894fs)
|
rs1553250077
|
|
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly)
|
rs1469032409
|
|
NM_206933.4(USH2A):c.1469A>C (p.His490Pro)
|
|
|
NM_206933.4(USH2A):c.14747del (p.Gly4916fs)
|
rs2102642087
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
NM_206933.4(USH2A):c.14791+2T>A
|
rs1553250050
|
|
NM_206933.4(USH2A):c.147T>C (p.Val49=)
|
rs1553258114
|
|
NM_206933.4(USH2A):c.14835del (p.Val4946fs)
|
rs2102636076
|
|
NM_206933.4(USH2A):c.14838G>T (p.Val4946=)
|
rs949583594
|
|
NM_206933.4(USH2A):c.14859C>T (p.Asp4953=)
|
rs1571923764
|
|
NM_206933.4(USH2A):c.14876G>A (p.Gly4959Asp)
|
rs1656647412
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs)
|
rs1553249452
|
|
NM_206933.4(USH2A):c.14901C>T (p.Thr4967=)
|
rs397517993
|
|
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
|
|
|
NM_206933.4(USH2A):c.14923A>G (p.Ser4975Gly)
|
rs147514366
|
|
NM_206933.4(USH2A):c.14961G>T (p.Ala4987=)
|
rs568581229
|
|
NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs)
|
rs781625683
|
|
NM_206933.4(USH2A):c.14969-1G>A
|
rs1553249311
|
|
NM_206933.4(USH2A):c.14969-2A>G
|
rs2102634730
|
|
NM_206933.4(USH2A):c.14970CTT[1] (p.Phe4993del)
|
rs1553249310
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala)
|
rs1553249303
|
|
NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs)
|
|
|
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
|
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs)
|
rs1553249294
|
|
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile)
|
rs1029854359
|
|
NM_206933.4(USH2A):c.15052+1G>A
|
rs1553249290
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del)
|
rs1553248836
|
|
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.15147_15160del (p.Met5049fs)
|
rs1553248832
|
|
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del)
|
rs1553250595
|
|
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)
|
|
|
NM_206933.4(USH2A):c.15199del (p.Ile5067fs)
|
rs2102630527
|
|
NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter)
|
rs1426135314
|
|
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter)
|
rs1571701072
|
|
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)
|
rs1571701069
|
|
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr)
|
rs397517999
|
|
NM_206933.4(USH2A):c.15298-18_15301dup
|
rs1553248238
|
|
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
|
|
|
NM_206933.4(USH2A):c.15321C>T (p.Pro5107=)
|
rs397518000
|
|
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)
|
rs746098518
|
|
NM_206933.4(USH2A):c.15322del (p.Arg5108fs)
|
rs1553248234
|
|
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
|
rs1656163649
|
|
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
|
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.15380del (p.Pro5127fs)
|
rs1553248216
|
|
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)
|
rs763463859
|
|
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)
|
rs111033435
|
|
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
|
|
|
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn)
|
rs774383785
|
|
NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr)
|
rs779531682
|
|
NM_206933.4(USH2A):c.15577del (p.Glu5193fs)
|
rs1553313073
|
|
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
|
rs727505155
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)
|
rs772624410
|
|
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe)
|
rs755735339
|
|
NM_206933.4(USH2A):c.1586CAA[1] (p.Thr530del)
|
rs1553250409
|
|
NM_206933.4(USH2A):c.1588A>G (p.Thr530Ala)
|
rs2037620114
|
|
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)
|
rs1195403033
|
|
NM_206933.4(USH2A):c.163C>T (p.Gln55Ter)
|
rs2102788946
|
|
NM_206933.4(USH2A):c.1644+5G>C
|
rs1558036810
|
|
NM_206933.4(USH2A):c.1645-2A>G
|
|
|
NM_206933.4(USH2A):c.1645-8del
|
rs763490382
|
|
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser)
|
rs1064797139
|
|
NM_206933.4(USH2A):c.1648G>C (p.Asp550His)
|
rs727504805
|
|
NM_206933.4(USH2A):c.1659del (p.Leu553fs)
|
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
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>T (p.Cys575Phe)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)
|
rs1553327470
|
|
NM_206933.4(USH2A):c.1808G>A (p.Gly603Glu)
|
rs1427232199
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
NM_206933.4(USH2A):c.1829A>C (p.His610Pro)
|
rs1571668556
|
|
NM_206933.4(USH2A):c.182C>A (p.Pro61Gln)
|
rs938662688
|
|
NM_206933.4(USH2A):c.1832A>C (p.Asn611Thr)
|
rs2102610653
|
|
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg)
|
rs768436928
|
|
NM_206933.4(USH2A):c.1841-377A>G
|
|
|
NM_206933.4(USH2A):c.1850G>A (p.Cys617Tyr)
|
|
|
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro)
|
rs777701725
|
|
NM_206933.4(USH2A):c.1860C>A (p.Cys620Ter)
|
|
|
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro)
|
rs369806765
|
|
NM_206933.4(USH2A):c.1891G>C (p.Asp631His)
|
rs552400144
|
|
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)
|
rs1487450999
|
|
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter)
|
rs2036152207
|
|
NM_206933.4(USH2A):c.1994del (p.Lys665fs)
|
|
|
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly)
|
rs2102788868
|
|
NM_206933.4(USH2A):c.2002G>A (p.Val668Met)
|
rs1404273822
|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)
|
rs376674482
|
|
NM_206933.4(USH2A):c.2081G>C (p.Cys694Ser)
|
rs137954284
|
|
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)
|
rs1352007983
|
|
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu)
|
rs45555435
|
|
NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser)
|
rs1304016981
|
|
NM_206933.4(USH2A):c.2168-1G>T
|
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg)
|
rs2102546492
|
|
NM_206933.4(USH2A):c.2210G>A (p.Arg737Gln)
|
rs778957703
|
|
NM_206933.4(USH2A):c.2223T>G (p.Asp741Glu)
|
rs1487392425
|
|
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
|
|
|
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs)
|
rs1553320542
|
|
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)
|
rs777629750
|
|
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)
|
rs1553320519
|
|
NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter)
|
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)
|
|
|
NM_206933.4(USH2A):c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu)
|
rs1553320498
|
|
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer)
|
rs2036063892
|
|
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)
|
rs587776538
|
|
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs)
|
|
|
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs)
|
|
|
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)
|
rs2102545818
|
|
NM_206933.4(USH2A):c.2435_2446del (p.Thr812_Cys815del)
|
rs757082108
|
|
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter)
|
|
|
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs)
|
|
|
NM_206933.4(USH2A):c.2514A>G (p.Gln838=)
|
rs969374126
|
|
NM_206933.4(USH2A):c.2525del (p.Phe842fs)
|
|
|
NM_206933.4(USH2A):c.2534del (p.Leu845fs)
|
rs1572088481
|
|
NM_206933.4(USH2A):c.253A>G (p.Ile85Val)
|
rs770983063
|
|
NM_206933.4(USH2A):c.257A>T (p.Gln86Leu)
|
|
|
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)
|
rs1553320451
|
|
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu)
|
rs2036055708
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)
|
|
|
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)
|
|
|
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)
|
rs776323626
|
|
NM_206933.4(USH2A):c.2775T>C (p.Asn925=)
|
rs779331611
|
|
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)
|
rs1438734382
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
NM_206933.4(USH2A):c.2809+1G>C
|
rs759433119
|
|
NM_206933.4(USH2A):c.2809+2T>A
|
rs1553320397
|
|
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val)
|
rs1572074313
|
|
NM_206933.4(USH2A):c.2829C>A (p.Gly943=)
|
rs397518007
|
|
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala)
|
rs754932972
|
|
NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs)
|
|
|
NM_206933.4(USH2A):c.2857T>C (p.Cys953Arg)
|
rs762059922
|
|
NM_206933.4(USH2A):c.2876_2877del (p.Val959fs)
|
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.2920G>A (p.Asp974Asn)
|
rs540564733
|
|
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
|
|
|
NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs)
|
|
|
NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter)
|
rs527236135
|
|
NM_206933.4(USH2A):c.2994-10T>G
|
rs748702655
|
|
NM_206933.4(USH2A):c.2994-2A>G
|
rs1553316430
|
|
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser)
|
rs1553316429
|
|
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe)
|
rs2102496508
|
|
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser)
|
rs2035366945
|
|
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.302del (p.Phe101fs)
|
rs1553258076
|
|
NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs)
|
|
|
NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs)
|
|
|
NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs)
|
|
|
NM_206933.4(USH2A):c.3095G>A (p.Cys1032Tyr)
|
rs762711963
|
|
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser)
|
rs1396798963
|
|
NM_206933.4(USH2A):c.3129dup (p.Val1044fs)
|
rs786205115
|
|
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del)
|
rs1396847135
|
|
NM_206933.4(USH2A):c.3158-1G>T
|
|
|
NM_206933.4(USH2A):c.3158-2A>G
|
rs878853404
|
|
NM_206933.4(USH2A):c.3158-47_3158-17del
|
rs1553315049
|
|
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg)
|
rs111033377
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3199TCT[1] (p.Ser1068del)
|
rs1461275915
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
NM_206933.4(USH2A):c.3250_3251insTACTTACAGTTTACT (p.His1083_Trp1084insLeuLeuThrValTyr)
|
rs1553314999
|
|
NM_206933.4(USH2A):c.3316+6T>C
|
rs373631038
|
|
NM_206933.4(USH2A):c.3317-1G>A
|
rs1553313909
|
|
NM_206933.4(USH2A):c.3317-25dup
|
rs376363548
|
|
NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)
|
|
|
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
|
rs2034948574
|
|
NM_206933.4(USH2A):c.3405G>A (p.Arg1135=)
|
rs372843685
|
|
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.3435del (p.Val1147fs)
|
rs397518012
|
|
NM_206933.4(USH2A):c.3468T>C (p.Tyr1156=)
|
|
|
NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs)
|
|
|
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs)
|
rs1553313844
|
|
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
|
|
|
NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs)
|
|
|
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)
|
rs762167370
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)
|
rs1553313810
|
|
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
|
rs1294733964
|
|
NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter)
|
|
|
NM_206933.4(USH2A):c.3660A>G (p.Val1220=)
|
rs2034940102
|
|
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=)
|
rs376090043
|
|
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
|
|
|
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs)
|
rs1553313793
|
|
NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs)
|
|
|
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
|
rs2034938852
|
|
NM_206933.4(USH2A):c.3715G>A (p.Ala1239Thr)
|
rs373698501
|
|
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser)
|
rs755849364
|
|
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu)
|
rs886045954
|
|
NM_206933.4(USH2A):c.3783A>G (p.Val1261=)
|
rs200698585
|
|
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)
|
|
|
NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)
|
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
|
|
|
NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer)
|
|
|
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter)
|
rs2034908088
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
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.3891del (p.Gln1298fs)
|
rs1553313551
|
|
NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)
|
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
NM_206933.4(USH2A):c.3934del (p.Ala1312fs)
|
rs2102464166
|
|
NM_206933.4(USH2A):c.3967del (p.Thr1322_Met1323insTer)
|
rs527236136
|
|
NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter)
|
|
|
NM_206933.4(USH2A):c.4002G>A (p.Lys1334=)
|
rs727503733
|
|
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
|
|
|
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.4046del (p.Ser1349fs)
|
rs2034899784
|
|
NM_206933.4(USH2A):c.4081+2T>C
|
rs1553313505
|
|
NM_206933.4(USH2A):c.4082-2A>G
|
rs1553313340
|
|
NM_206933.4(USH2A):c.4087del (p.Val1363fs)
|
rs2102460761
|
|
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
|
|
|
NM_206933.4(USH2A):c.4115C>A (p.Pro1372His)
|
rs2034853248
|
|
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr)
|
rs2102460604
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)
|
rs397518015
|
|
NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser)
|
rs752569816
|
|
NM_206933.4(USH2A):c.415CCT[1] (p.Pro140del)
|
rs773595155
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs)
|
rs2034850724
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs)
|
|
|
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.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4251+1del
|
rs2102460236
|
|
NM_206933.4(USH2A):c.4251+3A>G
|
rs1181655123
|
|
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)
|
rs2102460239
|
|
NM_206933.4(USH2A):c.4252-15dup
|
rs770949401
|
|
NM_206933.4(USH2A):c.4252-36CTTT[5]
|
rs372388546
|
|
NM_206933.4(USH2A):c.4276G>A (p.Glu1426Lys)
|
rs886045952
|
|
NM_206933.4(USH2A):c.4282T>C (p.Ser1428Pro)
|
rs369185265
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
NM_206933.4(USH2A):c.4328C>T (p.Thr1443Ile)
|
rs772742405
|
|
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.4349T>C (p.Val1450Ala)
|
rs886045951
|
|
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)
|
rs1553312493
|
|
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser)
|
rs2034687815
|
|
NM_206933.4(USH2A):c.4396+2T>G
|
rs2034687381
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter)
|
rs797045113
|
|
NM_206933.4(USH2A):c.4409del (p.Leu1470fs)
|
|
|
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr)
|
rs369357349
|
|
NM_206933.4(USH2A):c.442_443inv (p.Phe148Asn)
|
|
|
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)
|
rs869312179
|
|
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile)
|
rs2034357761
|
|
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)
|
rs1553258037
|
|
NM_206933.4(USH2A):c.4521_4522insCAGTCA (p.Ser1507_Ser1508insGlnSer)
|
rs1553310736
|
|
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe)
|
rs770790346
|
|
NM_206933.4(USH2A):c.4603dup (p.His1535fs)
|
rs1572020896
|
|
NM_206933.4(USH2A):c.4627+1091T>C
|
rs886045945
|
|
NM_206933.4(USH2A):c.4627+28A>G
|
rs773190850
|
|
NM_206933.4(USH2A):c.4627+330A>G
|
rs886045949
|
|
NM_206933.4(USH2A):c.4627+343A>G
|
rs2034344204
|
|
NM_206933.4(USH2A):c.4627+36C>T
|
rs577393945
|
|
NM_206933.4(USH2A):c.4627+442C>G
|
rs1037400670
|
|
NM_206933.4(USH2A):c.4627+48A>T
|
rs74874838
|
|
NM_206933.4(USH2A):c.4627+512G>A
|
rs2034341678
|
|
NM_206933.4(USH2A):c.4627+589C>A
|
rs886045948
|
|
NM_206933.4(USH2A):c.4627+813C>T
|
rs192047831
|
|
NM_206933.4(USH2A):c.4627+974T>C
|
rs2034329165
|
|
NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter)
|
|
|
NM_206933.4(USH2A):c.4668G>A (p.Leu1556=)
|
rs727503729
|
|
NM_206933.4(USH2A):c.4714C>G (p.Leu1572Val)
|
rs111033333
|
|
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe)
|
rs866592573
|
|
NM_206933.4(USH2A):c.4758+1G>A
|
|
|
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs)
|
rs1553300558
|
|
NM_206933.4(USH2A):c.485+3A>T
|
rs1553258031
|
|
NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter)
|
rs746900872
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.486-2A>C
|
|
|
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val)
|
rs2032219588
|
|
NM_206933.4(USH2A):c.4886-1G>A
|
rs1553300340
|
|
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)
|
rs2032147505
|
|
NM_206933.4(USH2A):c.4988-2A>G
|
rs143521854
|
|
NM_206933.4(USH2A):c.4998A>T (p.Gln1666His)
|
rs2032076681
|
|
NM_206933.4(USH2A):c.5047A>G (p.Asn1683Asp)
|
rs2102561202
|
|
NM_206933.4(USH2A):c.5083del (p.Ser1695fs)
|
rs1553300016
|
|
NM_206933.4(USH2A):c.5162G>C (p.Gly1721Ala)
|
rs2032067781
|
|
NM_206933.4(USH2A):c.5167+1G>T
|
rs794727408
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
NM_206933.4(USH2A):c.5170T>G (p.Phe1724Val)
|
rs1381827718
|
|
NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)
|
|
|
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp)
|
rs1469348824
|
|
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
|
|
|
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu)
|
rs2102559662
|
|
NM_206933.4(USH2A):c.5292dup (p.Leu1765fs)
|
rs2102559650
|
|
NM_206933.4(USH2A):c.5294T>C (p.Leu1765Pro)
|
rs2102559645
|
|
NM_206933.4(USH2A):c.532dup (p.Thr178fs)
|
rs1571801788
|
|
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)
|
rs2102554503
|
|
NM_206933.4(USH2A):c.5363A>T (p.Asp1788Val)
|
rs768237382
|
|
NM_206933.4(USH2A):c.5454_5455insAGAAATGGA (p.Gly1818_Leu1819insArgAsnGly)
|
rs1553299065
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu)
|
rs748792761
|
|
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
|
|
|
NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs)
|
rs1553299046
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)
|
rs1571941511
|
|
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs)
|
rs1553299022
|
|
NM_206933.4(USH2A):c.5548del (p.Tyr1850fs)
|
rs2102554196
|
|
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter)
|
rs763831329
|
|
NM_206933.4(USH2A):c.5561_5572+7dup
|
rs1553299014
|
|
NM_206933.4(USH2A):c.5573-34del
|
rs35944387
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
|
|
|
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
|
rs775803174
|
|
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.5708A>G (p.Asn1903Ser)
|
rs1162070622
|
|
NM_206933.4(USH2A):c.5726A>T (p.Tyr1909Phe)
|
rs761586978
|
|
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)
|
rs762837293
|
|
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)
|
rs2039616380
|
|
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=)
|
rs747419030
|
|
NM_206933.4(USH2A):c.5776+9G>T
|
rs1405078779
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.5813G>T (p.Gly1938Val)
|
rs2031607385
|
|
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala)
|
rs2031607129
|
|
NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter)
|
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs)
|
rs1553297684
|
|
NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter)
|
|
|
NM_206933.4(USH2A):c.5919G>A (p.Val1973=)
|
rs2102546199
|
|
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
NM_206933.4(USH2A):c.598G>C (p.Val200Leu)
|
rs781022362
|
|
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
|
|
|
NM_206933.4(USH2A):c.6050-2A>G
|
rs772124060
|
|
NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)
|
|
|
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
|
|
|
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=)
|
rs727503726
|
|
NM_206933.4(USH2A):c.6114T>C (p.Ala2038=)
|
rs1052386893
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
|
rs2030619513
|
|
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.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6163+1G>A
|
rs2030617696
|
|
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)
|
rs768233523
|
|
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del)
|
rs776262139
|
|
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs)
|
rs1553294144
|
|
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
|
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs)
|
rs2102524828
|
|
NM_206933.4(USH2A):c.6325+1G>A
|
rs1293202153
|
|
NM_206933.4(USH2A):c.6326-10882_6326-10769del
|
rs2102492616
|
|
NM_206933.4(USH2A):c.6326-2A>G
|
rs1553287118
|
|
NM_206933.4(USH2A):c.6326-3_6332del
|
rs1553287116
|
|
NM_206933.4(USH2A):c.6354del (p.Leu2119fs)
|
rs2102483305
|
|
NM_206933.4(USH2A):c.6366A>T (p.Ala2122=)
|
rs773734876
|
|
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)
|
rs727503725
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.647T>G (p.Val216Gly)
|
rs1571801514
|
|
NM_206933.4(USH2A):c.6485+1G>A
|
rs1553287070
|
|
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)
|
rs397518025
|
|
NM_206933.4(USH2A):c.651+15A>G
|
rs765252898
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
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.6513G>C (p.Gly2171=)
|
rs876657629
|
|
NM_206933.4(USH2A):c.6528T>C (p.Tyr2176=)
|
rs560847831
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|
NM_206933.4(USH2A):c.658C>T (p.Gln220Ter)
|
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.6638_6641del (p.Lys2213fs)
|
|
|
NM_206933.4(USH2A):c.6639A>G (p.Lys2213=)
|
rs1487136272
|
|
NM_206933.4(USH2A):c.6657+1G>A
|
rs1571876788
|
|
NM_206933.4(USH2A):c.6675dup (p.Cys2226fs)
|
rs1553285970
|
|
NM_206933.4(USH2A):c.6677G>A (p.Cys2226Tyr)
|
rs562492049
|
|
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)
|
rs2038569132
|
|
NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs)
|
rs1553285944
|
|
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.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)
|
rs201526850
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6741C>T (p.Pro2247=)
|
rs766287712
|
|
NM_206933.4(USH2A):c.675_678del (p.Phe225fs)
|
rs2102708663
|
|
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
|
rs727503723
|
|
NM_206933.4(USH2A):c.6805+1G>T
|
rs1553285919
|
|
NM_206933.4(USH2A):c.6806-9473C>A
|
rs207461105
|
|
NM_206933.4(USH2A):c.6810del (p.Ile2271fs)
|
rs1553282707
|
|
NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)
|
|
|
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter)
|
rs2102458475
|
|
NM_206933.4(USH2A):c.6868dup (p.Ser2290fs)
|
rs1553282698
|
|
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys)
|
rs727503722
|
|
NM_206933.4(USH2A):c.687C>A (p.Gly229=)
|
rs766740504
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
|
rs1667472317
|
|
NM_206933.4(USH2A):c.6905del (p.His2302fs)
|
rs2102458388
|
|
NM_206933.4(USH2A):c.6957+1G>C
|
rs2102458321
|
|
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile)
|
rs1667318951
|
|
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
|
rs1667316878
|
|
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
|
|
|
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
|
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu)
|
rs1017425051
|
|
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs)
|
rs1553281890
|
|
NM_206933.4(USH2A):c.7121-14del
|
rs536181325
|
|
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs)
|
rs1553277866
|
|
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)
|
rs376983577
|
|
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs)
|
rs2102499717
|
|
NM_206933.4(USH2A):c.7194C>T (p.Leu2398=)
|
rs1269441158
|
|
NM_206933.4(USH2A):c.7203G>T (p.Gly2401=)
|
rs769558676
|
|
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro)
|
rs2102499658
|
|
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr)
|
rs780840434
|
|
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)
|
rs397518029
|
|
NM_206933.4(USH2A):c.732T>C (p.Gly244=)
|
rs576466805
|
|
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del)
|
rs1665478442
|
|
NM_206933.4(USH2A):c.7342C>G (p.Pro2448Ala)
|
rs1553274535
|
|
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
|
|
|
NM_206933.4(USH2A):c.734_735del (p.Ser245fs)
|
|
|
NM_206933.4(USH2A):c.736A>G (p.Ile246Val)
|
rs746975879
|
|
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe)
|
rs1665475399
|
|
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.7452G>T (p.Glu2484Asp)
|
rs397518031
|
|
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter)
|
rs2102469649
|
|
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)
|
rs483353056
|
|
NM_206933.4(USH2A):c.7492A>T (p.Ser2498Cys)
|
rs754310768
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)
|
rs1558151555
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
|
|
|
NM_206933.4(USH2A):c.7531del (p.Val2511fs)
|
rs1553274435
|
|
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)
|
rs1553274424
|
|
NM_206933.4(USH2A):c.7595-1G>A
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-1G>T
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-2A>G
|
rs1064795047
|
|
NM_206933.4(USH2A):c.7620del (p.Leu2541fs)
|
rs1553273412
|
|
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.7684G>T (p.Val2562Phe)
|
rs397518033
|
|
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp)
|
rs747492773
|
|
NM_206933.4(USH2A):c.7770A>G (p.Leu2590=)
|
rs1665138334
|
|
NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)
|
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
NM_206933.4(USH2A):c.7892A>G (p.Glu2631Gly)
|
rs1175968972
|
|
NM_206933.4(USH2A):c.7926A>G (p.Ile2642Met)
|
rs1338661803
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser)
|
rs1414367127
|
|
NM_206933.4(USH2A):c.793C>T (p.Gln265Ter)
|
|
|
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
|
rs1665132445
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)
|
rs1301139848
|
|
NM_206933.4(USH2A):c.8003A>G (p.Glu2668Gly)
|
rs267598377
|
|
NM_206933.4(USH2A):c.8063C>T (p.Ser2688Phe)
|
rs1205473124
|
|
NM_206933.4(USH2A):c.8064T>C (p.Ser2688=)
|
rs1456443971
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs)
|
rs768367348
|
|
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
|
|
|
NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)
|
|
|
NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser)
|
rs768532694
|
|
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.8224-6T>G
|
rs1664846600
|
|
NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter)
|
|
|
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)
|
rs1553272201
|
|
NM_206933.4(USH2A):c.8262_8264del (p.Leu2755del)
|
rs1553272199
|
|
NM_206933.4(USH2A):c.8266del (p.Ser2756fs)
|
rs1558141330
|
|
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
|
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter)
|
|
|
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe)
|
rs1413784848
|
|
NM_206933.4(USH2A):c.8341dup (p.Thr2781fs)
|
rs2102451863
|
|
NM_206933.4(USH2A):c.8355T>G (p.Pro2785=)
|
rs2102451831
|
|
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu)
|
rs2102658782
|
|
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.8391del (p.Gly2799fs)
|
rs1553272176
|
|
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala)
|
rs886044303
|
|
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
|
rs2037760415
|
|
NM_206933.4(USH2A):c.848+2T>C
|
rs2102658759
|
|
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter)
|
rs2102451648
|
|
NM_206933.4(USH2A):c.849-2A>G
|
rs2102656326
|
|
NM_206933.4(USH2A):c.849-4A>G
|
rs765189933
|
|
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=)
|
rs753719500
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr)
|
rs397518038
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
|
|
|
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter)
|
rs2102450764
|
|
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)
|
|
|
NM_206933.4(USH2A):c.8672G>T (p.Gly2891Val)
|
rs1664810364
|
|
NM_206933.4(USH2A):c.8682-17A>G
|
rs1553271011
|
|
NM_206933.4(USH2A):c.8682-1G>A
|
rs1553271001
|
|
NM_206933.4(USH2A):c.8682-2A>C
|
rs1553271002
|
|
NM_206933.4(USH2A):c.8682-5T>C
|
rs1664495207
|
|
NM_206933.4(USH2A):c.8687C>T (p.Thr2896Ile)
|
rs1664494411
|
|
NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser)
|
rs1553270997
|
|
NM_206933.4(USH2A):c.8714dup (p.His2905fs)
|
rs2102440764
|
|
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg)
|
rs1571762632
|
|
NM_206933.4(USH2A):c.8738G>A (p.Ser2913Asn)
|
rs1664492083
|
|
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)
|
rs374146074
|
|
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
|
|
|
NM_206933.4(USH2A):c.8787C>G (p.Ala2929=)
|
rs371183424
|
|
NM_206933.4(USH2A):c.8798C>A (p.Ala2933Glu)
|
rs780358747
|
|
NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter)
|
rs1553270960
|
|
NM_206933.4(USH2A):c.8845+1G>A
|
rs1553270954
|
|
NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
|
|
NM_206933.4(USH2A):c.8846-1G>T
|
rs771051185
|
|
NM_206933.4(USH2A):c.8846-2A>G
|
rs1553268594
|
|
NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter)
|
|
|
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs)
|
rs786205116
|
|
NM_206933.4(USH2A):c.8896T>A (p.Ser2966Thr)
|
rs1048801397
|
|
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)
|
rs1553268582
|
|
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro)
|
rs886043586
|
|
NM_206933.4(USH2A):c.899C>T (p.Ser300Leu)
|
rs2037715022
|
|
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr)
|
rs1553268568
|
|
NM_206933.4(USH2A):c.9055+1G>A
|
rs1553268562
|
|
NM_206933.4(USH2A):c.9055+1del
|
rs1553268563
|
|
NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter)
|
|
|
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
|
|
|
NM_206933.4(USH2A):c.9086TCA[2] (p.Ile3031del)
|
rs764038940
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del)
|
rs760448755
|
|
NM_206933.4(USH2A):c.9143G>C (p.Gly3048Ala)
|
rs754391322
|
|
NM_206933.4(USH2A):c.9155A>G (p.Glu3052Gly)
|
|
|
NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter)
|
|
|
NM_206933.4(USH2A):c.9191del (p.Thr3064fs)
|
rs1553268435
|
|
NM_206933.4(USH2A):c.920G>T (p.Ser307Ile)
|
rs1553250805
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs)
|
rs1553268434
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
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.9275T>G (p.Ile3092Arg)
|
rs373286445
|
|
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)
|
rs773379163
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter)
|
|
|
NM_206933.4(USH2A):c.9402G>A (p.Arg3134=)
|
rs876657631
|
|
NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp)
|
rs756163056
|
|
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
|
rs756163056
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)
|
rs1662880811
|
|
NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)
|
rs1553265829
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.9473del (p.Lys3158fs)
|
rs2102796411
|
|
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln)
|
rs760741238
|
|
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.9538del (p.Cys3180fs)
|
rs36108227
|
|
NM_206933.4(USH2A):c.956del (p.Cys319fs)
|
|
|
NM_206933.4(USH2A):c.9602_9611del (p.Lys3201fs)
|
rs2102793202
|
|
NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter)
|
|
|
NM_206933.4(USH2A):c.9646C>A (p.Leu3216Met)
|
rs368240096
|
|
NM_206933.4(USH2A):c.9669TGG[1] (p.Gly3225del)
|
rs756735388
|
|
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)
|
rs1662772955
|
|
NM_206933.4(USH2A):c.9685del (p.Glu3229fs)
|
rs878853233
|
|
NM_206933.4(USH2A):c.9699del (p.His3234fs)
|
|
|
NM_206933.4(USH2A):c.9739+1G>C
|
rs2102792994
|
|
NM_206933.4(USH2A):c.9771T>C (p.Asn3257=)
|
rs755843100
|
|
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
|
|
|
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr)
|
rs1662225145
|
|
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile)
|
rs137876918
|
|
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter)
|
rs2102778615
|
|
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
|
rs780036975
|
|
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
|
|
|
NM_206933.4(USH2A):c.9921TGG[1] (p.Gly3309del)
|
rs773436260
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
NM_206933.4(USH2A):c.9962T>C (p.Met3321Thr)
|
rs2102770144
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|
NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs)
|
|
|
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)
|
rs1571703770
|
|
Single allele
|
|
|