NM_206933.4(USH2A):c.12612A>G (p.Thr4204=)
|
rs2797235
|
0.74921
|
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr)
|
rs10779261
|
0.73169
|
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr)
|
rs6657250
|
0.67783
|
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys)
|
rs1805049
|
0.62414
|
NM_206933.4(USH2A):c.504A>G (p.Thr168=)
|
rs4253963
|
0.61366
|
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)
|
rs10864198
|
0.58403
|
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr)
|
rs10864219
|
0.50009
|
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=)
|
rs2797234
|
0.33929
|
NM_206933.4(USH2A):c.1419C>T (p.Thr473=)
|
rs1805050
|
0.28143
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=)
|
rs2820718
|
0.17214
|
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)
|
rs56110889
|
0.16907
|
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)
|
rs2009923
|
0.15011
|
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr)
|
rs56222536
|
0.10108
|
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=)
|
rs12404427
|
0.07727
|
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp)
|
rs4129843
|
0.05402
|
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.9343A>G (p.Thr3115Ala)
|
rs56032526
|
0.03269
|
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln)
|
rs12118814
|
0.03107
|
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=)
|
rs41304083
|
0.02229
|
NM_206933.4(USH2A):c.573A>G (p.Val191=)
|
rs73102592
|
0.02039
|
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His)
|
rs41277210
|
0.02015
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01316
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
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.12608A>G (p.Gln4203Arg)
|
rs148556640
|
0.00247
|
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His)
|
rs143624066
|
0.00217
|
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val)
|
rs111033498
|
0.00214
|
NM_206933.4(USH2A):c.879T>G (p.Leu293=)
|
rs3767698
|
0.00201
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
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_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)
|
rs192115090
|
0.00086
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)
|
rs111033450
|
0.00076
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=)
|
rs143546878
|
0.00064
|
NM_206933.4(USH2A):c.485+12T>C
|
rs201857884
|
0.00058
|
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.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)
|
rs201071654
|
0.00040
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)
|
rs138640647
|
0.00027
|
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
|
rs570277510
|
0.00026
|
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr)
|
rs200949691
|
0.00024
|
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)
|
rs144817385
|
0.00020
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp)
|
rs144768593
|
0.00019
|
NM_206933.4(USH2A):c.5619C>T (p.Val1873=)
|
rs138416665
|
0.00019
|
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe)
|
rs368058316
|
0.00018
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
0.00014
|
NM_206933.4(USH2A):c.14368C>A (p.Gln4790Lys)
|
rs779057575
|
0.00014
|
NM_206933.4(USH2A):c.1581C>T (p.Cys527=)
|
rs140331348
|
0.00014
|
NM_206933.4(USH2A):c.1608C>T (p.Cys536=)
|
rs187380128
|
0.00014
|
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
|
rs143319658
|
0.00014
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
|
rs141452179
|
0.00014
|
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr)
|
rs146980351
|
0.00013
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_206933.4(USH2A):c.6801G>A (p.Pro2267=)
|
rs375235470
|
0.00012
|
NM_206933.4(USH2A):c.9813G>A (p.Met3271Ile)
|
rs137876918
|
0.00012
|
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)
|
rs138879998
|
0.00011
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690
|
0.00011
|
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys)
|
rs148049006
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=)
|
rs188093326
|
0.00011
|
NM_206933.4(USH2A):c.1674C>T (p.Asp558=)
|
rs778757759
|
0.00010
|
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=)
|
rs200525258
|
0.00010
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
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.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=)
|
rs144655434
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)
|
rs537863698
|
0.00008
|
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)
|
rs371685066
|
0.00008
|
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.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly)
|
rs146014881
|
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.11366T>C (p.Ile3789Thr)
|
rs183979371
|
0.00006
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
0.00006
|
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp)
|
rs767137840
|
0.00006
|
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val)
|
rs727503732
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
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.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_206933.4(USH2A):c.1346G>A (p.Arg449His)
|
rs766715882
|
0.00005
|
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00005
|
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp)
|
rs568902534
|
0.00005
|
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile)
|
rs142649882
|
0.00005
|
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)
|
rs727505166
|
0.00004
|
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
|
rs201951918
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)
|
rs550096037
|
0.00004
|
NM_206933.4(USH2A):c.13939G>C (p.Gly4647Arg)
|
rs144524302
|
0.00004
|
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
NM_206933.4(USH2A):c.14925C>T (p.Ser4975=)
|
rs1158136623
|
0.00004
|
NM_206933.4(USH2A):c.1972-1G>A
|
rs372927796
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
NM_206933.4(USH2A):c.723T>C (p.Thr241=)
|
rs571744403
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
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.8682-9A>G
|
rs372347027
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
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.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
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.13348C>T (p.Pro4450Ser)
|
rs141696914
|
0.00003
|
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu)
|
rs765354805
|
0.00003
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
NM_206933.4(USH2A):c.1977A>G (p.Gly659=)
|
rs774388489
|
0.00003
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.3665C>T (p.Ala1222Val)
|
rs200081251
|
0.00003
|
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)
|
rs781668118
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
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.7965G>A (p.Glu2655=)
|
rs571110005
|
0.00003
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
0.00003
|
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His)
|
rs778272177
|
0.00003
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val)
|
rs527689947
|
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.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)
|
rs769233119
|
0.00003
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)
|
rs778158900
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro)
|
rs201961789
|
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.1391G>A (p.Arg464His)
|
rs771000800
|
0.00002
|
NM_206933.4(USH2A):c.14011G>A (p.Glu4671Lys)
|
rs769560933
|
0.00002
|
NM_206933.4(USH2A):c.14190C>T (p.Thr4730=)
|
rs199694401
|
0.00002
|
NM_206933.4(USH2A):c.14643C>T (p.Ser4881=)
|
rs764036605
|
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.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
NM_206933.4(USH2A):c.1572C>T (p.Ala524=)
|
rs748943923
|
0.00002
|
NM_206933.4(USH2A):c.1644+1G>A
|
rs912980910
|
0.00002
|
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
|
rs757154662
|
0.00002
|
NM_206933.4(USH2A):c.3316+5G>C
|
rs1442104013
|
0.00002
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_206933.4(USH2A):c.6729C>T (p.Gly2243=)
|
rs369511538
|
0.00002
|
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met)
|
rs776972526
|
0.00002
|
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg)
|
rs375744536
|
0.00002
|
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp)
|
rs1394948601
|
0.00002
|
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)
|
rs748455430
|
0.00002
|
NM_206933.4(USH2A):c.8041A>T (p.Met2681Leu)
|
rs561700482
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu)
|
rs1467856164
|
0.00002
|
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
|
rs149485593
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
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.10859T>C (p.Ile3620Thr)
|
rs779716464
|
0.00001
|
NM_206933.4(USH2A):c.11047+1G>A
|
rs201730567
|
0.00001
|
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
NM_206933.4(USH2A):c.11389+3A>T
|
rs753886165
|
0.00001
|
NM_206933.4(USH2A):c.11530A>G (p.Ile3844Val)
|
rs1267260016
|
0.00001
|
NM_206933.4(USH2A):c.11585C>G (p.Thr3862Arg)
|
rs886044126
|
0.00001
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
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.12415G>C (p.Gly4139Arg)
|
rs138866017
|
0.00001
|
NM_206933.4(USH2A):c.12432G>A (p.Ala4144=)
|
rs773192157
|
0.00001
|
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)
|
rs147304271
|
0.00001
|
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
|
rs955434291
|
0.00001
|
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)
|
rs397517982
|
0.00001
|
NM_206933.4(USH2A):c.12954C>T (p.Tyr4318=)
|
rs762159022
|
0.00001
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_206933.4(USH2A):c.13268C>A (p.Ala4423Asp)
|
rs755480221
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13392G>A (p.Trp4464Ter)
|
rs1219505844
|
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.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln)
|
rs527644737
|
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.13811+1G>A
|
rs1177257719
|
0.00001
|
NM_206933.4(USH2A):c.13833G>A (p.Ala4611=)
|
rs760266483
|
0.00001
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
NM_206933.4(USH2A):c.14061C>A (p.Val4687=)
|
rs753243273
|
0.00001
|
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)
|
rs199851839
|
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.1481A>G (p.Tyr494Cys)
|
rs898430789
|
0.00001
|
NM_206933.4(USH2A):c.15092G>A (p.Arg5031Gln)
|
rs755653202
|
0.00001
|
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)
|
rs374144657
|
0.00001
|
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe)
|
rs542341955
|
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.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
NM_206933.4(USH2A):c.1758C>T (p.Tyr586=)
|
rs779929656
|
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.206G>T (p.Ser69Ile)
|
rs377254440
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.2139C>T (p.Gly713=)
|
rs765293412
|
0.00001
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr)
|
rs780709977
|
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.3068G>A (p.Cys1023Tyr)
|
rs1391032458
|
0.00001
|
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)
|
rs397518011
|
0.00001
|
NM_206933.4(USH2A):c.3317-2A>G
|
rs2034951427
|
0.00001
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
NM_206933.4(USH2A):c.3933G>A (p.Ser1311=)
|
rs560861284
|
0.00001
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
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.4810G>A (p.Asp1604Asn)
|
rs775241651
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)
|
rs752992414
|
0.00001
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
NM_206933.4(USH2A):c.5573-834A>G
|
rs1558244152
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)
|
rs751130485
|
0.00001
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter)
|
rs769609970
|
0.00001
|
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys)
|
rs774634733
|
0.00001
|
NM_206933.4(USH2A):c.6715G>C (p.Asp2239His)
|
rs749853149
|
0.00001
|
NM_206933.4(USH2A):c.6806-3C>T
|
rs775703386
|
0.00001
|
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly)
|
rs772407116
|
0.00001
|
NM_206933.4(USH2A):c.7206G>A (p.Leu2402=)
|
rs201731826
|
0.00001
|
NM_206933.4(USH2A):c.7230A>T (p.Val2410=)
|
rs202162396
|
0.00001
|
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr)
|
rs374569301
|
0.00001
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)
|
rs749452910
|
0.00001
|
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys)
|
rs1369414978
|
0.00001
|
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)
|
rs762358589
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys)
|
rs770418427
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
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.9862G>C (p.Asp3288His)
|
rs1334903455
|
0.00001
|
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe)
|
rs1662221668
|
0.00001
|
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly)
|
rs766658893
|
0.00001
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.10024G>A (p.Gly3342Arg)
|
|
|
NM_206933.4(USH2A):c.10149C>G (p.Cys3383Trp)
|
|
|
NM_206933.4(USH2A):c.10157A>C (p.Lys3386Thr)
|
|
|
NM_206933.4(USH2A):c.10159A>G (p.Ile3387Val)
|
|
|
NM_206933.4(USH2A):c.10183-2A>G
|
rs1661818720
|
|
NM_206933.4(USH2A):c.1021C>T (p.Pro341Ser)
|
|
|
NM_206933.4(USH2A):c.10330T>G (p.Cys3444Gly)
|
rs1661811625
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
NM_206933.4(USH2A):c.1038_1091dup (p.Thr363_Gln364insHisAspAsnAspValGlyThrSerTrpValSerAsnValPheThrAsnIleThr)
|
rs2037708032
|
|
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter)
|
rs1661687852
|
|
NM_206933.4(USH2A):c.10425G>T (p.Arg3475Ser)
|
|
|
NM_206933.4(USH2A):c.10473A>G (p.Arg3491=)
|
|
|
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
|
rs771610821
|
|
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
|
rs1241034250
|
|
NM_206933.4(USH2A):c.1048G>A (p.Val350Ile)
|
|
|
NM_206933.4(USH2A):c.10498C>T (p.Gln3500Ter)
|
|
|
NM_206933.4(USH2A):c.10513_10514del (p.Pro3505fs)
|
|
|
NM_206933.4(USH2A):c.10532A>G (p.Asp3511Gly)
|
|
|
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly)
|
rs527236119
|
|
NM_206933.4(USH2A):c.10584T>G (p.Asn3528Lys)
|
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.10627C>T (p.Arg3543Cys)
|
|
|
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu)
|
rs397517968
|
|
NM_206933.4(USH2A):c.10810G>T (p.Val3604Leu)
|
|
|
NM_206933.4(USH2A):c.10826G>C (p.Ser3609Thr)
|
rs727504307
|
|
NM_206933.4(USH2A):c.10839T>C (p.Pro3613=)
|
|
|
NM_206933.4(USH2A):c.10939+1G>T
|
|
|
NM_206933.4(USH2A):c.10976C>T (p.Thr3659Ile)
|
|
|
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly)
|
rs766505885
|
|
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)
|
rs1661140054
|
|
NM_206933.4(USH2A):c.11053T>C (p.Trp3685Arg)
|
|
|
NM_206933.4(USH2A):c.11103T>A (p.Tyr3701Ter)
|
rs143453173
|
|
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.11189del (p.Glu3730fs)
|
rs1660922779
|
|
NM_206933.4(USH2A):c.11328T>G (p.Tyr3776Ter)
|
|
|
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs)
|
rs762070900
|
|
NM_206933.4(USH2A):c.11377T>C (p.Trp3793Arg)
|
rs895291691
|
|
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs)
|
rs1553257707
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.11423A>G (p.Asn3808Ser)
|
|
|
NM_206933.4(USH2A):c.11468T>C (p.Val3823Ala)
|
|
|
NM_206933.4(USH2A):c.1150T>C (p.Tyr384His)
|
|
|
NM_206933.4(USH2A):c.11548+2T>G
|
rs1371160062
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
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.11811_11812del (p.Tyr3938fs)
|
|
|
NM_206933.4(USH2A):c.11862G>C (p.Leu3954=)
|
rs1486960561
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.11895del (p.Gln3966fs)
|
rs1659887829
|
|
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn)
|
rs866937010
|
|
NM_206933.4(USH2A):c.1204AAG[1] (p.Lys403del)
|
|
|
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val)
|
rs878853409
|
|
NM_206933.4(USH2A):c.120G>A (p.Leu40=)
|
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12226C>T (p.Gln4076Ter)
|
|
|
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.12252del (p.Leu4085fs)
|
rs1658179729
|
|
NM_206933.4(USH2A):c.12270T>C (p.Pro4090=)
|
|
|
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
|
rs1657997491
|
|
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)
|
rs1657997730
|
|
NM_206933.4(USH2A):c.12305T>A (p.Ile4102Asn)
|
|
|
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter)
|
rs757525434
|
|
NM_206933.4(USH2A):c.12407C>T (p.Thr4136Ile)
|
|
|
NM_206933.4(USH2A):c.12409del (p.Arg4137fs)
|
rs1657992342
|
|
NM_206933.4(USH2A):c.12416del (p.Gly4139fs)
|
|
|
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)
|
rs1064797131
|
|
NM_206933.4(USH2A):c.12447G>A (p.Trp4149Ter)
|
|
|
NM_206933.4(USH2A):c.12463C>T (p.Pro4155Ser)
|
|
|
NM_206933.4(USH2A):c.12602del (p.Gly4201fs)
|
rs1553252499
|
|
NM_206933.4(USH2A):c.1267G>T (p.Gly423Ter)
|
|
|
NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter)
|
rs1057517844
|
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
|
NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)
|
rs1657976232
|
|
NM_206933.4(USH2A):c.12711A>G (p.Glu4237=)
|
rs1657976025
|
|
NM_206933.4(USH2A):c.12730A>C (p.Asn4244His)
|
|
|
NM_206933.4(USH2A):c.1277dup (p.Asn426fs)
|
rs2037679829
|
|
NM_206933.4(USH2A):c.12782C>T (p.Ala4261Val)
|
|
|
NM_206933.4(USH2A):c.12863C>A (p.Pro4288Gln)
|
|
|
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)
|
rs397517983
|
|
NM_206933.4(USH2A):c.12897G>C (p.Arg4299Ser)
|
rs143898511
|
|
NM_206933.4(USH2A):c.12913del (p.Met4305fs)
|
rs1657961646
|
|
NM_206933.4(USH2A):c.12932T>C (p.Phe4311Ser)
|
rs1657960260
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13021T>G (p.Cys4341Gly)
|
|
|
NM_206933.4(USH2A):c.13071A>C (p.Ser4357=)
|
rs568141672
|
|
NM_206933.4(USH2A):c.13175G>C (p.Arg4392Thr)
|
|
|
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu)
|
rs2039690182
|
|
NM_206933.4(USH2A):c.13204C>T (p.Gln4402Ter)
|
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13305del (p.Lys4435fs)
|
|
|
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)
|
rs111033417
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)
|
rs727503715
|
|
NM_206933.4(USH2A):c.13385T>G (p.Ile4462Ser)
|
|
|
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
|
rs1657932443
|
|
NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp)
|
rs527236127
|
|
NM_206933.4(USH2A):c.13492A>G (p.Thr4498Ala)
|
|
|
NM_206933.4(USH2A):c.13513T>C (p.Tyr4505His)
|
|
|
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
NM_206933.4(USH2A):c.13590A>G (p.Ser4530=)
|
rs1343900269
|
|
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)
|
rs1485393201
|
|
NM_206933.4(USH2A):c.13803A>T (p.Pro4601=)
|
rs929186272
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.13834dup (p.Cys4612fs)
|
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.13854A>G (p.Ala4618=)
|
|
|
NM_206933.4(USH2A):c.1387_1419delinsACT (p.Tyr463_Asn472del)
|
rs2037662587
|
|
NM_206933.4(USH2A):c.13887G>T (p.Glu4629Asp)
|
|
|
NM_206933.4(USH2A):c.13894C>G (p.Pro4632Ala)
|
|
|
NM_206933.4(USH2A):c.13907C>A (p.Pro4636His)
|
|
|
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)
|
rs1423536179
|
|
NM_206933.4(USH2A):c.13916A>C (p.His4639Pro)
|
|
|
NM_206933.4(USH2A):c.13942_13943delinsT (p.Gly4648fs)
|
rs1419913594
|
|
NM_206933.4(USH2A):c.14010C>A (p.Tyr4670Ter)
|
|
|
NM_206933.4(USH2A):c.14019C>A (p.Tyr4673Ter)
|
rs1657799720
|
|
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)
|
rs1657798642
|
|
NM_206933.4(USH2A):c.14103A>G (p.Glu4701=)
|
|
|
NM_206933.4(USH2A):c.14125dup (p.Glu4709fs)
|
rs1657796004
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
NM_206933.4(USH2A):c.14142A>T (p.Ala4714=)
|
|
|
NM_206933.4(USH2A):c.14205del (p.Glu4736fs)
|
|
|
NM_206933.4(USH2A):c.14239T>C (p.Ser4747Pro)
|
rs1657035975
|
|
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter)
|
rs746837034
|
|
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter)
|
rs766370703
|
|
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu)
|
rs41315587
|
|
NM_206933.4(USH2A):c.14518C>T (p.Leu4840=)
|
rs1656939166
|
|
NM_206933.4(USH2A):c.14570G>T (p.Gly4857Val)
|
|
|
NM_206933.4(USH2A):c.14579A>G (p.His4860Arg)
|
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
|
rs1656901821
|
|
NM_206933.4(USH2A):c.14663C>T (p.Thr4888Met)
|
|
|
NM_206933.4(USH2A):c.14702C>T (p.Pro4901Leu)
|
|
|
NM_206933.4(USH2A):c.14739C>A (p.Asn4913Lys)
|
|
|
NM_206933.4(USH2A):c.14748C>T (p.Gly4916=)
|
rs749572330
|
|
NM_206933.4(USH2A):c.14787del (p.Glu4930fs)
|
rs34713174
|
|
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)
|
rs1656646221
|
|
NM_206933.4(USH2A):c.14916C>T (p.Arg4972=)
|
|
|
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
|
|
|
NM_206933.4(USH2A):c.14934C>T (p.Asp4978=)
|
|
|
NM_206933.4(USH2A):c.14950C>G (p.Pro4984Ala)
|
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.15013A>C (p.Lys5005Gln)
|
|
|
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.15119_15120dup (p.Leu5041fs)
|
rs1656416727
|
|
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del)
|
rs1553250595
|
|
NM_206933.4(USH2A):c.15192A>G (p.Gln5064=)
|
|
|
NM_206933.4(USH2A):c.151A>T (p.Ile51Phe)
|
rs886043442
|
|
NM_206933.4(USH2A):c.15205A>G (p.Lys5069Glu)
|
|
|
NM_206933.4(USH2A):c.15240_15243del (p.Pro5081fs)
|
rs2102630480
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.1550+2T>C
|
rs2037658254
|
|
NM_206933.4(USH2A):c.15519+1dup
|
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
NM_206933.4(USH2A):c.1562A>G (p.His521Arg)
|
|
|
NM_206933.4(USH2A):c.1644+2T>A
|
rs2037617658
|
|
NM_206933.4(USH2A):c.1644+5G>C
|
rs1558036810
|
|
NM_206933.4(USH2A):c.1645-2A>C
|
|
|
NM_206933.4(USH2A):c.1646G>A (p.Cys549Tyr)
|
|
|
NM_206933.4(USH2A):c.1654T>A (p.Cys552Ser)
|
|
|
NM_206933.4(USH2A):c.1672del (p.Asp558fs)
|
rs2037018431
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)
|
rs1553327470
|
|
NM_206933.4(USH2A):c.1774_1792del (p.Pro592fs)
|
|
|
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg)
|
rs768436928
|
|
NM_206933.4(USH2A):c.1907_1911del (p.Asp636fs)
|
|
|
NM_206933.4(USH2A):c.1912_1913insCACAG (p.Cys638fs)
|
|
|
NM_206933.4(USH2A):c.199T>C (p.Cys67Arg)
|
|
|
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)
|
rs1352007983
|
|
NM_206933.4(USH2A):c.2098G>A (p.Gly700Arg)
|
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)
|
rs751035557
|
|
NM_206933.4(USH2A):c.2293del (p.Gln765fs)
|
rs2036066604
|
|
NM_206933.4(USH2A):c.263G>T (p.Cys88Phe)
|
rs2039687321
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.2844C>G (p.Cys948Trp)
|
rs753787393
|
|
NM_206933.4(USH2A):c.2866A>G (p.Thr956Ala)
|
|
|
NM_206933.4(USH2A):c.2983_2984del (p.Gln995fs)
|
rs2035704899
|
|
NM_206933.4(USH2A):c.2993+3A>T
|
rs1201261740
|
|
NM_206933.4(USH2A):c.299T>A (p.Leu100His)
|
rs1558082163
|
|
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser)
|
rs2035366945
|
|
NM_206933.4(USH2A):c.3149G>T (p.Cys1050Phe)
|
rs1475306303
|
|
NM_206933.4(USH2A):c.3157+5G>A
|
rs777673655
|
|
NM_206933.4(USH2A):c.3158-2A>G
|
rs878853404
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter)
|
rs758705873
|
|
NM_206933.4(USH2A):c.3351del (p.Tyr1118fs)
|
|
|
NM_206933.4(USH2A):c.3455T>C (p.Leu1152Ser)
|
rs2034946086
|
|
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.35T>G (p.Phe12Cys)
|
|
|
NM_206933.4(USH2A):c.3619A>G (p.Ile1207Val)
|
|
|
NM_206933.4(USH2A):c.3650A>G (p.Asp1217Gly)
|
|
|
NM_206933.4(USH2A):c.3718del (p.Gln1240fs)
|
|
|
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu)
|
rs886045954
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
NM_206933.4(USH2A):c.3934del (p.Ala1312fs)
|
rs2102464166
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.4062A>G (p.Ser1354=)
|
rs1173545767
|
|
NM_206933.4(USH2A):c.4083A>C (p.Ala1361=)
|
|
|
NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser)
|
rs755867377
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4231A>G (p.Ile1411Val)
|
|
|
NM_206933.4(USH2A):c.4241C>T (p.Ala1414Val)
|
|
|
NM_206933.4(USH2A):c.4251+1G>A
|
rs878853405
|
|
NM_206933.4(USH2A):c.4321G>T (p.Glu1441Ter)
|
rs869312186
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4384del (p.Thr1462fs)
|
rs2034687946
|
|
NM_206933.4(USH2A):c.4431_4448del (p.Ile1478_Ile1483del)
|
|
|
NM_206933.4(USH2A):c.4580A>G (p.Tyr1527Cys)
|
|
|
NM_206933.4(USH2A):c.4627+3_4627+6del
|
|
|
NM_206933.4(USH2A):c.4670T>C (p.Ile1557Thr)
|
rs2032460768
|
|
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter)
|
rs2032459600
|
|
NM_206933.4(USH2A):c.4730G>T (p.Gly1577Val)
|
rs2032458819
|
|
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg)
|
rs2032221850
|
|
NM_206933.4(USH2A):c.4823_4835del (p.His1608fs)
|
rs2032220940
|
|
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs)
|
rs1558251742
|
|
NM_206933.4(USH2A):c.490G>T (p.Val164Phe)
|
rs527236123
|
|
NM_206933.4(USH2A):c.4919T>C (p.Ile1640Thr)
|
rs2102563226
|
|
NM_206933.4(USH2A):c.4996C>G (p.Gln1666Glu)
|
|
|
NM_206933.4(USH2A):c.5002G>C (p.Gly1668Arg)
|
|
|
NM_206933.4(USH2A):c.5249A>G (p.Asn1750Ser)
|
|
|
NM_206933.4(USH2A):c.5391_5395del (p.Asn1797fs)
|
|
|
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly)
|
rs777011507
|
|
NM_206933.4(USH2A):c.5459T>C (p.Met1820Thr)
|
rs201643378
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr)
|
rs755032078
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter)
|
|
|
NM_206933.4(USH2A):c.5573G>A (p.Gly1858Asp)
|
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5629G>T (p.Ala1877Ser)
|
|
|
NM_206933.4(USH2A):c.5664G>A (p.Leu1888=)
|
rs2102549080
|
|
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=)
|
rs747419030
|
|
NM_206933.4(USH2A):c.5776+1del
|
|
|
NM_206933.4(USH2A):c.5784G>A (p.Leu1928=)
|
|
|
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala)
|
rs2031607129
|
|
NM_206933.4(USH2A):c.5837G>A (p.Arg1946Gln)
|
|
|
NM_206933.4(USH2A):c.5857+1G>C
|
rs2031604509
|
|
NM_206933.4(USH2A):c.5865_5866del (p.Ser1956fs)
|
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.5933del (p.Pro1978fs)
|
|
|
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
NM_206933.4(USH2A):c.5990C>T (p.Thr1997Ile)
|
rs2031510445
|
|
NM_206933.4(USH2A):c.6042C>A (p.Asn2014Lys)
|
|
|
NM_206933.4(USH2A):c.6104G>A (p.Cys2035Tyr)
|
rs878853403
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6326-1G>A
|
rs878853411
|
|
NM_206933.4(USH2A):c.6367T>G (p.Cys2123Gly)
|
rs1668244820
|
|
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter)
|
rs55958016
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.6470del (p.Arg2157fs)
|
rs878853414
|
|
NM_206933.4(USH2A):c.6584A>G (p.Asn2195Ser)
|
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.6643C>G (p.Leu2215Val)
|
|
|
NM_206933.4(USH2A):c.6690G>C (p.Glu2230Asp)
|
|
|
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
|
rs727503723
|
|
NM_206933.4(USH2A):c.6806-2A>C
|
|
|
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)
|
rs1421761057
|
|
NM_206933.4(USH2A):c.685G>C (p.Gly229Arg)
|
rs2038568675
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6905A>C (p.His2302Pro)
|
rs1208209655
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
NM_206933.4(USH2A):c.7232A>C (p.Gln2411Pro)
|
|
|
NM_206933.4(USH2A):c.7252C>T (p.Gln2418Ter)
|
|
|
NM_206933.4(USH2A):c.725dup (p.Ser243fs)
|
rs1195779037
|
|
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del)
|
rs1665478442
|
|
NM_206933.4(USH2A):c.736A>G (p.Ile246Val)
|
rs746975879
|
|
NM_206933.4(USH2A):c.7416G>C (p.Gln2472His)
|
|
|
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=)
|
rs150372183
|
|
NM_206933.4(USH2A):c.7468del (p.Ser2490fs)
|
rs1665453379
|
|
NM_206933.4(USH2A):c.7499T>G (p.Leu2500Arg)
|
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7540_7548del (p.Asn2514_Phe2516del)
|
rs766071177
|
|
NM_206933.4(USH2A):c.7572T>G (p.Ile2524Met)
|
|
|
NM_206933.4(USH2A):c.7660C>T (p.Gln2554Ter)
|
|
|
NM_206933.4(USH2A):c.775_776del (p.Ser259fs)
|
rs2038566220
|
|
NM_206933.4(USH2A):c.780A>G (p.Leu260=)
|
|
|
NM_206933.4(USH2A):c.7847C>A (p.Thr2616Asn)
|
|
|
NM_206933.4(USH2A):c.785-3C>G
|
rs2037762626
|
|
NM_206933.4(USH2A):c.7870C>T (p.Pro2624Ser)
|
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.7932G>C (p.Trp2644Cys)
|
|
|
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
|
rs1665132445
|
|
NM_206933.4(USH2A):c.7949C>G (p.Pro2650Arg)
|
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_206933.4(USH2A):c.7972A>G (p.Thr2658Ala)
|
|
|
NM_206933.4(USH2A):c.8075C>T (p.Pro2692Leu)
|
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
NM_206933.4(USH2A):c.8105T>G (p.Met2702Arg)
|
|
|
NM_206933.4(USH2A):c.8189C>A (p.Pro2730His)
|
rs1665121843
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
NM_206933.4(USH2A):c.8211del (p.Asp2738fs)
|
|
|
NM_206933.4(USH2A):c.8276T>C (p.Ile2759Thr)
|
|
|
NM_206933.4(USH2A):c.8339T>A (p.Val2780Asp)
|
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.8659dup (p.Tyr2887fs)
|
rs1664810877
|
|
NM_206933.4(USH2A):c.8682-16C>G
|
rs958618933
|
|
NM_206933.4(USH2A):c.8859del (p.Gln2954fs)
|
rs1663836291
|
|
NM_206933.4(USH2A):c.9110G>C (p.Arg3037Pro)
|
|
|
NM_206933.4(USH2A):c.9201T>A (p.Asn3067Lys)
|
|
|
NM_206933.4(USH2A):c.9205C>T (p.Pro3069Ser)
|
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
NM_206933.4(USH2A):c.9265G>A (p.Val3089Ile)
|
|
|
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)
|
rs779572631
|
|
NM_206933.4(USH2A):c.9307del (p.Ile3103fs)
|
rs1558121260
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
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.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.9668G>C (p.Cys3223Ser)
|
rs1662773660
|
|
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)
|
rs1662771528
|
|
NM_206933.4(USH2A):c.9770A>G (p.Asn3257Ser)
|
|
|
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del)
|
rs1246009294
|
|
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)
|
rs2039690812
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|
NM_206933.4(USH2A):c.9944A>G (p.Tyr3315Cys)
|
rs1662218841
|
|
NM_206933.4(USH2A):c.9958G>A (p.Gly3320Ser)
|
|
|