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.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_206933.4(USH2A):c.12066+4409C>G
|
rs115494070
|
0.00638
|
NM_206933.4(USH2A):c.78T>C (p.Ala26=)
|
rs59139861
|
0.00539
|
NM_206933.4(USH2A):c.4627+641G>A
|
rs146153666
|
0.00523
|
NM_206933.4(USH2A):c.486-13G>A
|
rs116367260
|
0.00385
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln)
|
rs150264392
|
0.00246
|
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)
|
rs111033479
|
0.00240
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_206933.4(USH2A):c.879T>G (p.Leu293=)
|
rs3767698
|
0.00201
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_206933.4(USH2A):c.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_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.486-15C>T
|
rs114194722
|
0.00146
|
NM_206933.4(USH2A):c.4627+981T>A
|
rs41277220
|
0.00135
|
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile)
|
rs150807452
|
0.00126
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)
|
rs143218330
|
0.00118
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_206933.4(USH2A):c.14791+711C>T
|
rs377413071
|
0.00103
|
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00099
|
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)
|
rs146892520
|
0.00098
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_206933.4(USH2A):c.3157+12C>T
|
rs199853422
|
0.00088
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00085
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)
|
rs111033450
|
0.00076
|
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met)
|
rs138803855
|
0.00075
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)
|
rs147371835
|
0.00069
|
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=)
|
rs149776188
|
0.00068
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)
|
rs139921272
|
0.00065
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
NM_206933.4(USH2A):c.4627+801C>G
|
rs41277222
|
0.00064
|
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)
|
rs111033333
|
0.00063
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
NM_206933.4(USH2A):c.15298-1176A>G
|
rs144467375
|
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.6989A>G (p.Glu2330Gly)
|
rs138992047
|
0.00057
|
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_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)
|
rs150532013
|
0.00054
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_206933.4(USH2A):c.3581C>T (p.Pro1194Leu)
|
rs145114751
|
0.00052
|
NM_206933.4(USH2A):c.10741-8G>A
|
rs369968349
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu)
|
rs145468090
|
0.00050
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)
|
rs146445078
|
0.00047
|
NM_206933.4(USH2A):c.10609C>T (p.Leu3537Phe)
|
rs138656755
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val)
|
rs137868043
|
0.00045
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_206933.4(USH2A):c.10470G>T (p.Val3490=)
|
rs201401001
|
0.00041
|
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)
|
rs112273610
|
0.00039
|
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)
|
rs146406377
|
0.00038
|
NM_206933.4(USH2A):c.4627+561T>C
|
rs566131886
|
0.00035
|
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser)
|
rs200496467
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys)
|
rs147023536
|
0.00031
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
0.00029
|
NM_206933.4(USH2A):c.2167+11C>T
|
rs139647897
|
0.00029
|
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)
|
rs146372677
|
0.00029
|
NM_206933.4(USH2A):c.5131G>A (p.Ala1711Thr)
|
rs535796173
|
0.00028
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)
|
rs138640647
|
0.00027
|
NM_206933.4(USH2A):c.7416G>A (p.Gln2472=)
|
rs145783712
|
0.00027
|
NM_206933.4(USH2A):c.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.7167C>T (p.Ser2389=)
|
rs200243588
|
0.00026
|
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly)
|
rs146569216
|
0.00025
|
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
|
rs200981928
|
0.00025
|
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr)
|
rs200949691
|
0.00024
|
NM_206933.4(USH2A):c.13099G>A (p.Val4367Ile)
|
rs146156360
|
0.00023
|
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe)
|
rs375083165
|
0.00023
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)
|
rs147374057
|
0.00022
|
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys)
|
rs140983855
|
0.00022
|
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)
|
rs200802261
|
0.00022
|
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)
|
rs144817385
|
0.00020
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His)
|
rs189729452
|
0.00019
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_206933.4(USH2A):c.5266G>A (p.Val1756Ile)
|
rs143208990
|
0.00019
|
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp)
|
rs144768593
|
0.00019
|
NM_206933.4(USH2A):c.5619C>T (p.Val1873=)
|
rs138416665
|
0.00019
|
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)
|
rs147532612
|
0.00018
|
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe)
|
rs368058316
|
0.00018
|
NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn)
|
rs144892841
|
0.00018
|
NM_206933.4(USH2A):c.4627+161T>C
|
rs771693146
|
0.00017
|
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.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_206933.4(USH2A):c.1486A>C (p.Thr496Pro)
|
rs145114473
|
0.00015
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00015
|
NM_206933.4(USH2A):c.5299-10T>C
|
rs375279569
|
0.00015
|
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln)
|
rs541275063
|
0.00015
|
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala)
|
rs138574386
|
0.00015
|
NM_206933.4(USH2A):c.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.14368C>A (p.Gln4790Lys)
|
rs779057575
|
0.00014
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
0.00014
|
NM_206933.4(USH2A):c.1581C>T (p.Cys527=)
|
rs140331348
|
0.00014
|
NM_206933.4(USH2A):c.1608C>T (p.Cys536=)
|
rs187380128
|
0.00014
|
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
|
rs373190681
|
0.00014
|
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys)
|
rs200289497
|
0.00014
|
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
|
rs143319658
|
0.00014
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser)
|
rs148136966
|
0.00014
|
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
|
rs141452179
|
0.00014
|
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_206933.4(USH2A):c.8016G>A (p.Leu2672=)
|
rs368327746
|
0.00013
|
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly)
|
rs77797012
|
0.00012
|
NM_206933.4(USH2A):c.6801G>A (p.Pro2267=)
|
rs375235470
|
0.00012
|
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val)
|
rs143523460
|
0.00012
|
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=)
|
rs147842359
|
0.00011
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
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.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
NM_206933.4(USH2A):c.14680G>A (p.Ala4894Thr)
|
rs369778428
|
0.00011
|
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln)
|
rs369806765
|
0.00011
|
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690
|
0.00011
|
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu)
|
rs141339026
|
0.00011
|
NM_206933.4(USH2A):c.4646G>A (p.Arg1549Gln)
|
rs190170807
|
0.00011
|
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys)
|
rs148049006
|
0.00011
|
NM_206933.4(USH2A):c.8179G>T (p.Val2727Leu)
|
rs145399306
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_206933.4(USH2A):c.10585+4T>G
|
rs372667667
|
0.00010
|
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser)
|
rs371987720
|
0.00010
|
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser)
|
rs143898511
|
0.00010
|
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met)
|
rs200570742
|
0.00010
|
NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser)
|
rs139799843
|
0.00010
|
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)
|
rs149506333
|
0.00010
|
NM_206933.4(USH2A):c.1674C>T (p.Asp558=)
|
rs778757759
|
0.00010
|
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)
|
rs727503735
|
0.00010
|
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe)
|
rs145148501
|
0.00010
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
NM_206933.4(USH2A):c.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.10826G>T (p.Ser3609Ile)
|
rs727504307
|
0.00009
|
NM_206933.4(USH2A):c.11013T>G (p.Pro3671=)
|
rs777699434
|
0.00009
|
NM_206933.4(USH2A):c.11062C>T (p.Pro3688Ser)
|
rs147214756
|
0.00009
|
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr)
|
rs372327495
|
0.00009
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_206933.4(USH2A):c.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.3177G>A (p.Pro1059=)
|
rs767648070
|
0.00009
|
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser)
|
rs139089840
|
0.00009
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=)
|
rs768759268
|
0.00009
|
NM_206933.4(USH2A):c.671G>C (p.Ser224Thr)
|
rs142234324
|
0.00009
|
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln)
|
rs780020144
|
0.00009
|
NM_206933.4(USH2A):c.9439T>C (p.Trp3147Arg)
|
rs139649540
|
0.00009
|
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His)
|
rs200726531
|
0.00009
|
NM_206933.2(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.11008G>A (p.Glu3670Lys)
|
rs140548353
|
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.7168G>A (p.Gly2390Arg)
|
rs376983577
|
0.00008
|
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)
|
rs371685066
|
0.00008
|
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln)
|
rs748137104
|
0.00008
|
NM_206933.4(USH2A):c.9772C>T (p.Arg3258Trp)
|
rs750218932
|
0.00008
|
NM_206933.4(USH2A):c.1205A>G (p.Lys402Arg)
|
rs768097637
|
0.00007
|
NM_206933.4(USH2A):c.14473C>T (p.His4825Tyr)
|
rs1158010100
|
0.00007
|
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln)
|
rs201630132
|
0.00007
|
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg)
|
rs199672621
|
0.00007
|
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn)
|
rs778199517
|
0.00007
|
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)
|
rs142302070
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=)
|
rs750789180
|
0.00007
|
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
NM_206933.4(USH2A):c.8137G>T (p.Ala2713Ser)
|
rs199934541
|
0.00007
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp)
|
rs150617613
|
0.00006
|
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly)
|
rs146014881
|
0.00006
|
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln)
|
rs771999994
|
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.12295-3T>A
|
rs111033518
|
0.00006
|
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys)
|
rs727503718
|
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.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_206933.4(USH2A):c.14380G>A (p.Gly4794Ser)
|
rs138488003
|
0.00006
|
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile)
|
rs138694314
|
0.00006
|
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)
|
rs370127889
|
0.00006
|
NM_206933.4(USH2A):c.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.4030A>G (p.Met1344Val)
|
rs727503732
|
0.00006
|
NM_206933.4(USH2A):c.4627+510G>A
|
rs941646674
|
0.00006
|
NM_206933.4(USH2A):c.5783T>C (p.Leu1928Pro)
|
rs111033399
|
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.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.7227T>C (p.Thr2409=)
|
rs141917231
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu)
|
rs147333637
|
0.00006
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
|
rs754774098
|
0.00006
|
NM_206933.4(USH2A):c.8846-7T>C
|
rs769662049
|
0.00006
|
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His)
|
rs199885325
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
|
rs200696560
|
0.00006
|
NM_206933.4(USH2A):c.10426A>C (p.Ile3476Leu)
|
rs1038876830
|
0.00005
|
NM_206933.4(USH2A):c.10487A>C (p.Glu3496Ala)
|
rs142594852
|
0.00005
|
NM_206933.4(USH2A):c.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.14073C>T (p.Asn4691=)
|
rs370364142
|
0.00005
|
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)
|
rs534656527
|
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.15249G>C (p.Gln5083His)
|
rs768977235
|
0.00005
|
NM_206933.4(USH2A):c.1816G>C (p.Asp606His)
|
rs111033410
|
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.6175G>T (p.Val2059Phe)
|
rs767444125
|
0.00005
|
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)
|
rs201281141
|
0.00005
|
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His)
|
rs777618162
|
0.00005
|
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp)
|
rs568902534
|
0.00005
|
NM_206933.4(USH2A):c.8631C>G (p.His2877Gln)
|
rs954532372
|
0.00005
|
NM_206933.4(USH2A):c.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_206933.4(USH2A):c.-305C>G
|
rs1430551833
|
0.00004
|
NM_206933.4(USH2A):c.-355C>G
|
rs868097748
|
0.00004
|
NM_206933.4(USH2A):c.10116T>A (p.Asn3372Lys)
|
rs202172477
|
0.00004
|
NM_206933.4(USH2A):c.10807G>A (p.Ala3603Thr)
|
rs539580993
|
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.11121G>T (p.Lys3707Asn)
|
rs111033515
|
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.13159A>G (p.Thr4387Ala)
|
rs755416914
|
0.00004
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
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.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_206933.4(USH2A):c.14761G>A (p.Glu4921Lys)
|
rs754834155
|
0.00004
|
NM_206933.4(USH2A):c.14871G>C (p.Leu4957=)
|
rs748007443
|
0.00004
|
NM_206933.4(USH2A):c.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.15432C>T (p.Ser5144=)
|
rs145362017
|
0.00004
|
NM_206933.4(USH2A):c.1573G>A (p.Asp525Asn)
|
rs375741757
|
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.1877G>A (p.Arg626Gln)
|
rs192524347
|
0.00004
|
NM_206933.4(USH2A):c.2135del (p.Asn711_Ser712insTer)
|
rs1238314101
|
0.00004
|
NM_206933.4(USH2A):c.2167+15A>G
|
rs779599960
|
0.00004
|
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)
|
rs557642490
|
0.00004
|
NM_206933.4(USH2A):c.3025G>A (p.Ala1009Thr)
|
rs756977189
|
0.00004
|
NM_206933.4(USH2A):c.3780T>C (p.His1260=)
|
rs759937489
|
0.00004
|
NM_206933.4(USH2A):c.3812G>A (p.Gly1271Glu)
|
rs748216235
|
0.00004
|
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp)
|
rs540537272
|
0.00004
|
NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His)
|
rs374449657
|
0.00004
|
NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr)
|
rs752059469
|
0.00004
|
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His)
|
rs770394440
|
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.6372A>T (p.Thr2124=)
|
rs548332655
|
0.00004
|
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg)
|
rs370643158
|
0.00004
|
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu)
|
rs143107117
|
0.00004
|
NM_206933.4(USH2A):c.6622G>A (p.Val2208Ile)
|
rs747250565
|
0.00004
|
NM_206933.4(USH2A):c.6979G>A (p.Ala2327Thr)
|
rs747835402
|
0.00004
|
NM_206933.4(USH2A):c.723T>C (p.Thr241=)
|
rs571744403
|
0.00004
|
NM_206933.4(USH2A):c.7429G>A (p.Asp2477Asn)
|
rs772852467
|
0.00004
|
NM_206933.4(USH2A):c.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.7951A>G (p.Asn2651Asp)
|
rs141134147
|
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.8856C>T (p.Asp2952=)
|
rs149306655
|
0.00004
|
NM_206933.4(USH2A):c.8893A>G (p.Ser2965Gly)
|
rs373107700
|
0.00004
|
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile)
|
rs769479181
|
0.00004
|
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)
|
rs397518044
|
0.00004
|
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)
|
rs1380261595
|
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_206933.4(USH2A):c.10189A>G (p.Lys3397Glu)
|
rs777959748
|
0.00003
|
NM_206933.4(USH2A):c.10208G>A (p.Cys3403Tyr)
|
rs202009522
|
0.00003
|
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg)
|
rs375485721
|
0.00003
|
NM_206933.4(USH2A):c.10387+5C>G
|
rs746536041
|
0.00003
|
NM_206933.4(USH2A):c.10414T>C (p.Tyr3472His)
|
rs375487139
|
0.00003
|
NM_206933.4(USH2A):c.10497T>C (p.Pro3499=)
|
rs749177032
|
0.00003
|
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
NM_206933.4(USH2A):c.10663G>A (p.Glu3555Lys)
|
rs1004971373
|
0.00003
|
NM_206933.4(USH2A):c.10675C>T (p.Pro3559Ser)
|
rs748298845
|
0.00003
|
NM_206933.4(USH2A):c.10849A>G (p.Asn3617Asp)
|
rs777178240
|
0.00003
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala)
|
rs760024584
|
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.13250A>G (p.Tyr4417Cys)
|
rs794727826
|
0.00003
|
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)
|
rs141696914
|
0.00003
|
NM_206933.4(USH2A):c.13609C>T (p.Pro4537Ser)
|
rs1435495561
|
0.00003
|
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu)
|
rs765354805
|
0.00003
|
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val)
|
rs376077079
|
0.00003
|
NM_206933.4(USH2A):c.1412A>G (p.Tyr471Cys)
|
rs794727938
|
0.00003
|
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)
|
rs746837034
|
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.1652G>A (p.Arg551His)
|
rs746477843
|
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.3665C>T (p.Ala1222Val)
|
rs200081251
|
0.00003
|
NM_206933.4(USH2A):c.3679G>C (p.Gly1227Arg)
|
rs765613123
|
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.4687C>G (p.Pro1563Ala)
|
rs370391920
|
0.00003
|
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln)
|
rs372436408
|
0.00003
|
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)
|
rs771088957
|
0.00003
|
NM_206933.4(USH2A):c.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.6385A>G (p.Thr2129Ala)
|
rs184267885
|
0.00003
|
NM_206933.4(USH2A):c.6618A>G (p.Gln2206=)
|
rs745614158
|
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.7573C>A (p.Pro2525Thr)
|
rs762553660
|
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.8456C>A (p.Thr2819Asn)
|
rs894122981
|
0.00003
|
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His)
|
rs778272177
|
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.938C>A (p.Pro313His)
|
rs397518047
|
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.9989A>T (p.Asn3330Ile)
|
rs397518050
|
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.10133C>T (p.Pro3378Leu)
|
rs1253377260
|
0.00002
|
NM_206933.4(USH2A):c.10145T>G (p.Val3382Gly)
|
rs1198689866
|
0.00002
|
NM_206933.4(USH2A):c.10266C>A (p.Ser3422Arg)
|
rs200756318
|
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.10777A>G (p.Ile3593Val)
|
rs746312367
|
0.00002
|
NM_206933.4(USH2A):c.10808C>T (p.Ala3603Val)
|
rs753430531
|
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.11047+6G>A
|
rs748013097
|
0.00002
|
NM_206933.4(USH2A):c.11074A>G (p.Ile3692Val)
|
rs758785058
|
0.00002
|
NM_206933.4(USH2A):c.11103T>C (p.Tyr3701=)
|
rs143453173
|
0.00002
|
NM_206933.4(USH2A):c.11124C>G (p.Pro3708=)
|
rs773828586
|
0.00002
|
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro)
|
rs201961789
|
0.00002
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
0.00002
|
NM_206933.4(USH2A):c.1189A>G (p.Ile397Val)
|
rs984959407
|
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.12361C>T (p.Arg4121Cys)
|
rs772357461
|
0.00002
|
NM_206933.4(USH2A):c.12428C>T (p.Ser4143Leu)
|
rs373319380
|
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.13955C>A (p.Thr4652Asn)
|
rs148605973
|
0.00002
|
NM_206933.4(USH2A):c.14011G>A (p.Glu4671Lys)
|
rs769560933
|
0.00002
|
NM_206933.4(USH2A):c.14528G>A (p.Arg4843Lys)
|
rs768433165
|
0.00002
|
NM_206933.4(USH2A):c.14658G>T (p.Lys4886Asn)
|
rs1394766722
|
0.00002
|
NM_206933.4(USH2A):c.14771G>T (p.Ser4924Ile)
|
rs145731949
|
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.1684C>T (p.Arg562Cys)
|
rs766452143
|
0.00002
|
NM_206933.4(USH2A):c.1789C>A (p.His597Asn)
|
rs201127450
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.2206C>T (p.Leu736Phe)
|
rs758063197
|
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.3692G>A (p.Ser1231Asn)
|
rs747578300
|
0.00002
|
NM_206933.4(USH2A):c.3980C>T (p.Thr1327Ile)
|
rs774663133
|
0.00002
|
NM_206933.4(USH2A):c.4071G>A (p.Thr1357=)
|
rs745962568
|
0.00002
|
NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys)
|
rs753908845
|
0.00002
|
NM_206933.4(USH2A):c.4627+850C>T
|
rs906951959
|
0.00002
|
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His)
|
rs761306493
|
0.00002
|
NM_206933.4(USH2A):c.5063G>T (p.Trp1688Leu)
|
rs1223810066
|
0.00002
|
NM_206933.4(USH2A):c.5095C>A (p.Gln1699Lys)
|
rs1351926905
|
0.00002
|
NM_206933.4(USH2A):c.565C>T (p.Arg189Cys)
|
rs370653547
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_206933.4(USH2A):c.6047C>T (p.Thr2016Ile)
|
rs750260175
|
0.00002
|
NM_206933.4(USH2A):c.6050-3T>C
|
rs368789291
|
0.00002
|
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr)
|
rs749333215
|
0.00002
|
NM_206933.4(USH2A):c.6197C>T (p.Ser2066Phe)
|
rs2030530878
|
0.00002
|
NM_206933.4(USH2A):c.6380G>A (p.Gly2127Asp)
|
rs964562748
|
0.00002
|
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe)
|
rs756234447
|
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.7157T>C (p.Val2386Ala)
|
rs750076512
|
0.00002
|
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe)
|
rs372950392
|
0.00002
|
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys)
|
rs937606032
|
0.00002
|
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp)
|
rs1394948601
|
0.00002
|
NM_206933.4(USH2A):c.7670G>C (p.Arg2557Thr)
|
rs143628000
|
0.00002
|
NM_206933.4(USH2A):c.7776A>G (p.Pro2592=)
|
rs753565758
|
0.00002
|
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)
|
rs748455430
|
0.00002
|
NM_206933.4(USH2A):c.7906A>G (p.Thr2636Ala)
|
rs752549947
|
0.00002
|
NM_206933.4(USH2A):c.792G>A (p.Glu264=)
|
rs886043440
|
0.00002
|
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=)
|
rs766443785
|
0.00002
|
NM_206933.4(USH2A):c.8041A>T (p.Met2681Leu)
|
rs561700482
|
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.8405A>G (p.Tyr2802Cys)
|
rs764812165
|
0.00002
|
NM_206933.4(USH2A):c.8443A>G (p.Thr2815Ala)
|
rs780543913
|
0.00002
|
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala)
|
rs759063087
|
0.00002
|
NM_206933.4(USH2A):c.8632A>G (p.Asn2878Asp)
|
rs1406942984
|
0.00002
|
NM_206933.4(USH2A):c.8645G>C (p.Gly2882Ala)
|
rs527467361
|
0.00002
|
NM_206933.4(USH2A):c.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.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_206933.4(USH2A):c.-204-15G>A
|
rs1162064882
|
0.00001
|
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)
|
rs770756678
|
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.10182G>A (p.Lys3394=)
|
rs751903445
|
0.00001
|
NM_206933.4(USH2A):c.10196G>A (p.Cys3399Tyr)
|
rs765920408
|
0.00001
|
NM_206933.4(USH2A):c.10217C>G (p.Ser3406Cys)
|
rs774237501
|
0.00001
|
NM_206933.4(USH2A):c.10319T>C (p.Ile3440Thr)
|
rs1558097475
|
0.00001
|
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
|
rs149485593
|
0.00001
|
NM_206933.4(USH2A):c.10406A>G (p.Tyr3469Cys)
|
rs982424534
|
0.00001
|
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly)
|
rs762384558
|
0.00001
|
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys)
|
rs749121941
|
0.00001
|
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly)
|
rs141098637
|
0.00001
|
NM_206933.4(USH2A):c.1047T>C (p.Asp349=)
|
rs775053681
|
0.00001
|
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)
|
rs777043718
|
0.00001
|
NM_206933.4(USH2A):c.10583A>G (p.Asn3528Ser)
|
rs1353682085
|
0.00001
|
NM_206933.4(USH2A):c.10584T>C (p.Asn3528=)
|
rs775566366
|
0.00001
|
NM_206933.4(USH2A):c.10597T>C (p.Tyr3533His)
|
rs1288596700
|
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.10867T>C (p.Tyr3623His)
|
rs1440261810
|
0.00001
|
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile)
|
rs397517970
|
0.00001
|
NM_206933.4(USH2A):c.10960T>C (p.Tyr3654His)
|
rs758299314
|
0.00001
|
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala)
|
rs765454203
|
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.11232-3T>C
|
rs780354387
|
0.00001
|
NM_206933.4(USH2A):c.11244G>T (p.Lys3748Asn)
|
rs757908289
|
0.00001
|
NM_206933.4(USH2A):c.11248G>A (p.Glu3750Lys)
|
rs999582580
|
0.00001
|
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg)
|
rs397517971
|
0.00001
|
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser)
|
rs1289393326
|
0.00001
|
NM_206933.4(USH2A):c.11350A>C (p.Ile3784Leu)
|
rs1660884865
|
0.00001
|
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)
|
rs200521328
|
0.00001
|
NM_206933.4(USH2A):c.11389+2dup
|
rs1414433033
|
0.00001
|
NM_206933.4(USH2A):c.11390-3A>C
|
rs1379405755
|
0.00001
|
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)
|
rs111033395
|
0.00001
|
NM_206933.4(USH2A):c.1144G>A (p.Val382Met)
|
rs750651679
|
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.11596G>C (p.Ala3866Pro)
|
rs1571639421
|
0.00001
|
NM_206933.4(USH2A):c.11631A>C (p.Ala3877=)
|
rs1318290007
|
0.00001
|
NM_206933.4(USH2A):c.11647A>G (p.Ile3883Val)
|
rs755107631
|
0.00001
|
NM_206933.4(USH2A):c.1169T>G (p.Phe390Cys)
|
rs2037685279
|
0.00001
|
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile)
|
rs949082769
|
0.00001
|
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile)
|
rs1401744202
|
0.00001
|
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln)
|
rs727504582
|
0.00001
|
NM_206933.4(USH2A):c.11887G>A (p.Ala3963Thr)
|
rs541566194
|
0.00001
|
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala)
|
rs727505322
|
0.00001
|
NM_206933.4(USH2A):c.12028A>G (p.Thr4010Ala)
|
rs765237520
|
0.00001
|
NM_206933.4(USH2A):c.12040C>T (p.Pro4014Ser)
|
rs1265251013
|
0.00001
|
NM_206933.4(USH2A):c.12074G>T (p.Ser4025Ile)
|
rs1183608510
|
0.00001
|
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys)
|
rs772969352
|
0.00001
|
NM_206933.4(USH2A):c.12106T>C (p.Phe4036Leu)
|
rs747696611
|
0.00001
|
NM_206933.4(USH2A):c.12149G>A (p.Gly4050Glu)
|
rs867523397
|
0.00001
|
NM_206933.4(USH2A):c.1218T>A (p.Ser406Arg)
|
rs2037682584
|
0.00001
|
NM_206933.4(USH2A):c.12202G>A (p.Gly4068Arg)
|
rs1430838005
|
0.00001
|
NM_206933.4(USH2A):c.12273G>A (p.Met4091Ile)
|
rs751834009
|
0.00001
|
NM_206933.4(USH2A):c.12281A>C (p.Asn4094Thr)
|
rs1358963233
|
0.00001
|
NM_206933.4(USH2A):c.12304A>G (p.Ile4102Val)
|
rs377354842
|
0.00001
|
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg)
|
rs1174206381
|
0.00001
|
NM_206933.4(USH2A):c.1231G>T (p.Asp411Tyr)
|
rs1407219490
|
0.00001
|
NM_206933.4(USH2A):c.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.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.12499A>G (p.Lys4167Glu)
|
rs1227523513
|
0.00001
|
NM_206933.4(USH2A):c.12559C>T (p.Arg4187Cys)
|
rs760177550
|
0.00001
|
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)
|
rs147304271
|
0.00001
|
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)
|
rs769001387
|
0.00001
|
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
|
rs955434291
|
0.00001
|
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)
|
rs141943290
|
0.00001
|
NM_206933.4(USH2A):c.12633T>G (p.Ile4211Met)
|
rs727503716
|
0.00001
|
NM_206933.4(USH2A):c.12640A>G (p.Thr4214Ala)
|
rs145099178
|
0.00001
|
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)
|
rs397517982
|
0.00001
|
NM_206933.4(USH2A):c.12820G>A (p.Val4274Ile)
|
rs758369437
|
0.00001
|
NM_206933.4(USH2A):c.12828G>A (p.Met4276Ile)
|
rs1174250569
|
0.00001
|
NM_206933.4(USH2A):c.12869A>T (p.Gln4290Leu)
|
rs1481528981
|
0.00001
|
NM_206933.4(USH2A):c.12929G>A (p.Ser4310Asn)
|
rs1482821042
|
0.00001
|
NM_206933.4(USH2A):c.12954C>T (p.Tyr4318=)
|
rs762159022
|
0.00001
|
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His)
|
rs140202956
|
0.00001
|
NM_206933.4(USH2A):c.12962A>G (p.Glu4321Gly)
|
rs936692193
|
0.00001
|
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe)
|
rs750512832
|
0.00001
|
NM_206933.4(USH2A):c.12986A>G (p.Tyr4329Cys)
|
rs371401837
|
0.00001
|
NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys)
|
rs1423233510
|
0.00001
|
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val)
|
rs770620234
|
0.00001
|
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val)
|
rs727505097
|
0.00001
|
NM_206933.4(USH2A):c.13148A>C (p.Asn4383Thr)
|
rs1418825414
|
0.00001
|
NM_206933.4(USH2A):c.13279G>A (p.Gly4427Arg)
|
rs1255592098
|
0.00001
|
NM_206933.4(USH2A):c.1327A>C (p.Asn443His)
|
rs775075026
|
0.00001
|
NM_206933.4(USH2A):c.1329-4A>G
|
rs1222644764
|
0.00001
|
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met)
|
rs1453273341
|
0.00001
|
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys)
|
rs921800139
|
0.00001
|
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)
|
rs878853406
|
0.00001
|
NM_206933.4(USH2A):c.13448G>A (p.Gly4483Glu)
|
rs909121671
|
0.00001
|
NM_206933.4(USH2A):c.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.13577G>A (p.Arg4526Gln)
|
rs527644737
|
0.00001
|
NM_206933.4(USH2A):c.13592C>A (p.Ala4531Glu)
|
rs748763603
|
0.00001
|
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg)
|
rs750418422
|
0.00001
|
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro)
|
rs143032902
|
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.13738A>T (p.Ile4580Leu)
|
rs766887390
|
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.13870T>G (p.Phe4624Val)
|
rs1369860869
|
0.00001
|
NM_206933.4(USH2A):c.13885G>A (p.Glu4629Lys)
|
rs906152033
|
0.00001
|
NM_206933.4(USH2A):c.13888A>G (p.Ile4630Val)
|
rs1357048122
|
0.00001
|
NM_206933.4(USH2A):c.1394C>T (p.Pro465Leu)
|
rs2037663532
|
0.00001
|
NM_206933.4(USH2A):c.13951C>G (p.Pro4651Ala)
|
rs548761125
|
0.00001
|
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)
|
rs1553250627
|
0.00001
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
NM_206933.4(USH2A):c.14065A>G (p.Ile4689Val)
|
rs375971791
|
0.00001
|
NM_206933.4(USH2A):c.14086T>C (p.Ser4696Pro)
|
rs751019233
|
0.00001
|
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser)
|
rs369513607
|
0.00001
|
NM_206933.4(USH2A):c.14134-3G>A
|
rs752163607
|
0.00001
|
NM_206933.4(USH2A):c.14140G>T (p.Ala4714Ser)
|
rs765164422
|
0.00001
|
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu)
|
rs201631375
|
0.00001
|
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser)
|
rs55838724
|
0.00001
|
NM_206933.4(USH2A):c.14324C>A (p.Ala4775Asp)
|
rs768124080
|
0.00001
|
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln)
|
rs1220949681
|
0.00001
|
NM_206933.4(USH2A):c.14335G>A (p.Glu4779Lys)
|
rs769420341
|
0.00001
|
NM_206933.4(USH2A):c.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.14493A>T (p.Gly4831=)
|
rs113716139
|
0.00001
|
NM_206933.4(USH2A):c.14534C>T (p.Ala4845Val)
|
rs1305482689
|
0.00001
|
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp)
|
rs757728612
|
0.00001
|
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
|
rs374096293
|
0.00001
|
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met)
|
rs727504686
|
0.00001
|
NM_206933.4(USH2A):c.14750G>A (p.Ser4917Asn)
|
rs147530266
|
0.00001
|
NM_206933.4(USH2A):c.14816C>T (p.Ser4939Leu)
|
rs775948052
|
0.00001
|
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)
|
rs898430789
|
0.00001
|
NM_206933.4(USH2A):c.14832G>T (p.Leu4944Phe)
|
rs556415914
|
0.00001
|
NM_206933.4(USH2A):c.14842T>C (p.Cys4948Arg)
|
rs916761288
|
0.00001
|
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys)
|
rs766759858
|
0.00001
|
NM_206933.4(USH2A):c.14963A>G (p.Asp4988Gly)
|
rs759589351
|
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.15052+8A>G
|
rs773109018
|
0.00001
|
NM_206933.4(USH2A):c.15074G>C (p.Gly5025Ala)
|
rs756803628
|
0.00001
|
NM_206933.4(USH2A):c.15092G>A (p.Arg5031Gln)
|
rs755653202
|
0.00001
|
NM_206933.4(USH2A):c.15094A>G (p.Ser5032Gly)
|
rs112798365
|
0.00001
|
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)
|
rs374144657
|
0.00001
|
NM_206933.4(USH2A):c.15142G>A (p.Ala5048Thr)
|
rs371182500
|
0.00001
|
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val)
|
rs748393788
|
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.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
NM_206933.4(USH2A):c.15250A>G (p.Lys5084Glu)
|
rs745567070
|
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.15391C>G (p.Gln5131Glu)
|
rs1192363193
|
0.00001
|
NM_206933.4(USH2A):c.15416G>A (p.Gly5139Asp)
|
rs766644731
|
0.00001
|
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)
|
rs768813865
|
0.00001
|
NM_206933.4(USH2A):c.15506A>G (p.His5169Arg)
|
rs146085433
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
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.1685G>A (p.Arg562His)
|
rs756426298
|
0.00001
|
NM_206933.4(USH2A):c.1712A>G (p.Asn571Ser)
|
rs372955644
|
0.00001
|
NM_206933.4(USH2A):c.1761C>T (p.Asn587=)
|
rs1571668714
|
0.00001
|
NM_206933.4(USH2A):c.1762A>T (p.Ile588Phe)
|
rs148901710
|
0.00001
|
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu)
|
rs1378799607
|
0.00001
|
NM_206933.4(USH2A):c.1840+4A>G
|
rs749288291
|
0.00001
|
NM_206933.4(USH2A):c.1864G>C (p.Asp622His)
|
rs1399999249
|
0.00001
|
NM_206933.4(USH2A):c.1886G>T (p.Gly629Val)
|
rs754159296
|
0.00001
|
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser)
|
rs759589036
|
0.00001
|
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly)
|
rs397518005
|
0.00001
|
NM_206933.4(USH2A):c.1972-4C>T
|
rs772294505
|
0.00001
|
NM_206933.4(USH2A):c.1993A>G (p.Lys665Glu)
|
rs749791724
|
0.00001
|
NM_206933.4(USH2A):c.2031G>T (p.Gln677His)
|
rs753305011
|
0.00001
|
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile)
|
rs377254440
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.2111G>A (p.Gly704Glu)
|
rs1039358341
|
0.00001
|
NM_206933.4(USH2A):c.2139C>T (p.Gly713=)
|
rs765293412
|
0.00001
|
NM_206933.4(USH2A):c.2167+4C>T
|
rs200638562
|
0.00001
|
NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr)
|
rs780709977
|
0.00001
|
NM_206933.4(USH2A):c.2234A>C (p.Glu745Ala)
|
rs1450983588
|
0.00001
|
NM_206933.4(USH2A):c.2250C>A (p.Asn750Lys)
|
rs2036067730
|
0.00001
|
NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser)
|
rs776095235
|
0.00001
|
NM_206933.4(USH2A):c.232T>G (p.Phe78Val)
|
rs775094277
|
0.00001
|
NM_206933.4(USH2A):c.2825C>T (p.Pro942Leu)
|
rs1482225576
|
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.3041G>C (p.Cys1014Ser)
|
rs760117356
|
0.00001
|
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr)
|
rs1391032458
|
0.00001
|
NM_206933.4(USH2A):c.3158C>A (p.Thr1053Asn)
|
rs1463169820
|
0.00001
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr)
|
rs751890894
|
0.00001
|
NM_206933.4(USH2A):c.3317-8C>A
|
rs886044611
|
0.00001
|
NM_206933.4(USH2A):c.3338C>T (p.Thr1113Ile)
|
rs753085223
|
0.00001
|
NM_206933.4(USH2A):c.3387T>A (p.Asn1129Lys)
|
rs770929980
|
0.00001
|
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser)
|
rs372843685
|
0.00001
|
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)
|
rs1064793287
|
0.00001
|
NM_206933.4(USH2A):c.3446A>T (p.Glu1149Val)
|
rs1318186049
|
0.00001
|
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)
|
rs139156019
|
0.00001
|
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)
|
rs727503734
|
0.00001
|
NM_206933.4(USH2A):c.3529G>T (p.Gly1177Cys)
|
rs923020422
|
0.00001
|
NM_206933.4(USH2A):c.3542A>C (p.Lys1181Thr)
|
rs753695973
|
0.00001
|
NM_206933.4(USH2A):c.358G>A (p.Ala120Thr)
|
rs1017927571
|
0.00001
|
NM_206933.4(USH2A):c.3598G>A (p.Gly1200Ser)
|
rs1191555571
|
0.00001
|
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)
|
rs202247801
|
0.00001
|
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr)
|
rs761752531
|
0.00001
|
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
|
rs768461447
|
0.00001
|
NM_206933.4(USH2A):c.3746C>A (p.Pro1249His)
|
rs2034937106
|
0.00001
|
NM_206933.4(USH2A):c.3887T>C (p.Val1296Ala)
|
rs552551256
|
0.00001
|
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn)
|
rs772408328
|
0.00001
|
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu)
|
rs780574336
|
0.00001
|
NM_206933.4(USH2A):c.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.3977T>C (p.Ile1326Thr)
|
rs1439905146
|
0.00001
|
NM_206933.4(USH2A):c.3991C>T (p.Pro1331Ser)
|
rs149339941
|
0.00001
|
NM_206933.4(USH2A):c.4001A>G (p.Lys1334Arg)
|
rs770323958
|
0.00001
|
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn)
|
rs760233343
|
0.00001
|
NM_206933.4(USH2A):c.4043T>C (p.Val1348Ala)
|
rs375465641
|
0.00001
|
NM_206933.4(USH2A):c.406T>A (p.Phe136Ile)
|
rs1165457274
|
0.00001
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
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.4313G>A (p.Arg1438Lys)
|
rs876657627
|
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.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.4556G>A (p.Gly1519Glu)
|
rs776483371
|
0.00001
|
NM_206933.4(USH2A):c.4559T>A (p.Ile1520Asn)
|
rs727503730
|
0.00001
|
NM_206933.4(USH2A):c.4561C>T (p.Arg1521Cys)
|
rs773526991
|
0.00001
|
NM_206933.4(USH2A):c.4595G>A (p.Ser1532Asn)
|
rs112269780
|
0.00001
|
NM_206933.4(USH2A):c.4604A>G (p.His1535Arg)
|
rs1392389263
|
0.00001
|
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
NM_206933.4(USH2A):c.4679C>A (p.Ala1560Glu)
|
rs1388648004
|
0.00001
|
NM_206933.4(USH2A):c.4687C>T (p.Pro1563Ser)
|
rs370391920
|
0.00001
|
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His)
|
rs552928943
|
0.00001
|
NM_206933.4(USH2A):c.4752T>A (p.Asp1584Glu)
|
rs1411201130
|
0.00001
|
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn)
|
rs775241651
|
0.00001
|
NM_206933.4(USH2A):c.4828A>G (p.Ile1610Val)
|
rs1290492076
|
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.4882A>T (p.Thr1628Ser)
|
rs794727386
|
0.00001
|
NM_206933.4(USH2A):c.4885+5G>A
|
rs988696340
|
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.5116T>G (p.Trp1706Gly)
|
rs764884175
|
0.00001
|
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys)
|
rs375519871
|
0.00001
|
NM_206933.4(USH2A):c.520G>A (p.Val174Met)
|
rs1414123599
|
0.00001
|
NM_206933.4(USH2A):c.5239G>A (p.Asp1747Asn)
|
rs1174148752
|
0.00001
|
NM_206933.4(USH2A):c.5246T>C (p.Leu1749Ser)
|
rs1558249837
|
0.00001
|
NM_206933.4(USH2A):c.5298+5G>A
|
rs1176314553
|
0.00001
|
NM_206933.4(USH2A):c.5314G>A (p.Gly1772Arg)
|
rs763043150
|
0.00001
|
NM_206933.4(USH2A):c.5339C>T (p.Thr1780Ile)
|
rs1430931231
|
0.00001
|
NM_206933.4(USH2A):c.5359G>A (p.Val1787Met)
|
rs1558246687
|
0.00001
|
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu)
|
rs527598451
|
0.00001
|
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
NM_206933.4(USH2A):c.5434A>T (p.Ile1812Leu)
|
rs372590222
|
0.00001
|
NM_206933.4(USH2A):c.5436A>G (p.Ile1812Met)
|
rs760159684
|
0.00001
|
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)
|
rs752992414
|
0.00001
|
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly)
|
rs940913250
|
0.00001
|
NM_206933.4(USH2A):c.5480G>C (p.Gly1827Ala)
|
rs2031817738
|
0.00001
|
NM_206933.4(USH2A):c.553A>G (p.Met185Val)
|
rs770266757
|
0.00001
|
NM_206933.4(USH2A):c.5559_5561del (p.Leu1853_Cys1854delinsPhe)
|
rs2031812954
|
0.00001
|
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly)
|
rs760543320
|
0.00001
|
NM_206933.4(USH2A):c.5596G>A (p.Val1866Ile)
|
rs1481712505
|
0.00001
|
NM_206933.4(USH2A):c.5598T>C (p.Val1866=)
|
rs771810761
|
0.00001
|
NM_206933.4(USH2A):c.5660A>G (p.Asn1887Ser)
|
rs1241916861
|
0.00001
|
NM_206933.4(USH2A):c.5732G>A (p.Gly1911Glu)
|
rs763747123
|
0.00001
|
NM_206933.4(USH2A):c.5737G>C (p.Glu1913Gln)
|
rs762837293
|
0.00001
|
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys)
|
rs529355834
|
0.00001
|
NM_206933.4(USH2A):c.5776+5T>A
|
rs1164972172
|
0.00001
|
NM_206933.4(USH2A):c.5801C>T (p.Ser1934Leu)
|
rs202075825
|
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.6032A>G (p.Asn2011Ser)
|
rs1371723634
|
0.00001
|
NM_206933.4(USH2A):c.6048A>G (p.Thr2016=)
|
rs995870865
|
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.6153T>A (p.Thr2051=)
|
rs754250829
|
0.00001
|
NM_206933.4(USH2A):c.6245A>C (p.Asn2082Thr)
|
rs778263278
|
0.00001
|
NM_206933.4(USH2A):c.626A>C (p.Lys209Thr)
|
rs751814860
|
0.00001
|
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn)
|
rs759545289
|
0.00001
|
NM_206933.4(USH2A):c.6332C>A (p.Ala2111Glu)
|
rs373761608
|
0.00001
|
NM_206933.4(USH2A):c.6341C>T (p.Thr2114Ile)
|
rs777813142
|
0.00001
|
NM_206933.4(USH2A):c.6416C>T (p.Ala2139Val)
|
rs1235098752
|
0.00001
|
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala)
|
rs754703964
|
0.00001
|
NM_206933.4(USH2A):c.6436G>A (p.Val2146Met)
|
rs766466542
|
0.00001
|
NM_206933.4(USH2A):c.6481A>G (p.Ile2161Val)
|
rs146282882
|
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.652-9T>G
|
rs1231791432
|
0.00001
|
NM_206933.4(USH2A):c.6535T>C (p.Tyr2179His)
|
rs779772574
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.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.6673G>A (p.Gly2225Arg)
|
rs138340157
|
0.00001
|
NM_206933.4(USH2A):c.6674G>A (p.Gly2225Glu)
|
rs763755886
|
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.6715G>C (p.Asp2239His)
|
rs749853149
|
0.00001
|
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr)
|
rs750302027
|
0.00001
|
NM_206933.4(USH2A):c.6761C>T (p.Pro2254Leu)
|
rs1230579970
|
0.00001
|
NM_206933.4(USH2A):c.6779C>A (p.Ser2260Tyr)
|
rs1349610745
|
0.00001
|
NM_206933.4(USH2A):c.6791C>G (p.Pro2264Arg)
|
rs1668037653
|
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.6872A>G (p.Tyr2291Cys)
|
rs148817340
|
0.00001
|
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser)
|
rs150634036
|
0.00001
|
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe)
|
rs766809837
|
0.00001
|
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly)
|
rs772407116
|
0.00001
|
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)
|
rs748983904
|
0.00001
|
NM_206933.4(USH2A):c.6958-10A>G
|
rs727504213
|
0.00001
|
NM_206933.4(USH2A):c.6958-8A>T
|
rs769264662
|
0.00001
|
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln)
|
rs772014718
|
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.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.7206G>A (p.Leu2402=)
|
rs201731826
|
0.00001
|
NM_206933.4(USH2A):c.7218C>A (p.Thr2406=)
|
rs372817698
|
0.00001
|
NM_206933.4(USH2A):c.7325G>C (p.Arg2442Thr)
|
rs1367430538
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.7376C>G (p.Ala2459Gly)
|
rs1281618285
|
0.00001
|
NM_206933.4(USH2A):c.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.7489G>A (p.Val2497Met)
|
rs1665452444
|
0.00001
|
NM_206933.4(USH2A):c.7591G>A (p.Asp2531Asn)
|
rs372989431
|
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.7856C>A (p.Thr2619Lys)
|
rs778372214
|
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.799G>T (p.Val267Phe)
|
rs1240261228
|
0.00001
|
NM_206933.4(USH2A):c.8009C>G (p.Thr2670Ser)
|
rs758382005
|
0.00001
|
NM_206933.4(USH2A):c.800T>C (p.Val267Ala)
|
rs1047582820
|
0.00001
|
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn)
|
rs754677752
|
0.00001
|
NM_206933.4(USH2A):c.8026C>T (p.Pro2676Ser)
|
rs1251197997
|
0.00001
|
NM_206933.4(USH2A):c.8027C>T (p.Pro2676Leu)
|
rs754100765
|
0.00001
|
NM_206933.4(USH2A):c.8095C>T (p.Arg2699Trp)
|
rs771526931
|
0.00001
|
NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile)
|
rs778655083
|
0.00001
|
NM_206933.4(USH2A):c.8102T>C (p.Leu2701Pro)
|
rs982853731
|
0.00001
|
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu)
|
rs397518034
|
0.00001
|
NM_206933.4(USH2A):c.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.8250G>C (p.Gln2750His)
|
rs1315503316
|
0.00001
|
NM_206933.4(USH2A):c.8276T>G (p.Ile2759Ser)
|
rs949022186
|
0.00001
|
NM_206933.4(USH2A):c.82A>G (p.Ile28Val)
|
rs753515909
|
0.00001
|
NM_206933.4(USH2A):c.8324T>C (p.Val2775Ala)
|
rs767155952
|
0.00001
|
NM_206933.4(USH2A):c.8380G>A (p.Val2794Ile)
|
rs373984123
|
0.00001
|
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg)
|
rs397518037
|
0.00001
|
NM_206933.4(USH2A):c.8401G>T (p.Gly2801Trp)
|
rs1158558641
|
0.00001
|
NM_206933.4(USH2A):c.849-3C>T
|
rs774392934
|
0.00001
|
NM_206933.4(USH2A):c.8549C>T (p.Pro2850Leu)
|
rs762053600
|
0.00001
|
NM_206933.4(USH2A):c.860A>C (p.Glu287Ala)
|
rs775281649
|
0.00001
|
NM_206933.4(USH2A):c.8682G>A (p.Arg2894=)
|
rs773808835
|
0.00001
|
NM_206933.4(USH2A):c.8725G>A (p.Gly2909Ser)
|
rs758347918
|
0.00001
|
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu)
|
rs373811292
|
0.00001
|
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)
|
rs762358589
|
0.00001
|
NM_206933.4(USH2A):c.8811C>A (p.Asn2937Lys)
|
rs544710050
|
0.00001
|
NM_206933.4(USH2A):c.8824G>A (p.Asp2942Asn)
|
rs763232931
|
0.00001
|
NM_206933.4(USH2A):c.8842C>T (p.Pro2948Ser)
|
rs142315587
|
0.00001
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
NM_206933.4(USH2A):c.8868A>G (p.Glu2956=)
|
rs755315304
|
0.00001
|
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)
|
rs761359720
|
0.00001
|
NM_206933.4(USH2A):c.8923A>G (p.Ile2975Val)
|
rs867946356
|
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.9046T>C (p.Cys3016Arg)
|
rs1472655556
|
0.00001
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.9093C>G (p.Ile3031Met)
|
rs774531184
|
0.00001
|
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser)
|
rs768579751
|
0.00001
|
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys)
|
rs770418427
|
0.00001
|
NM_206933.4(USH2A):c.9142G>A (p.Gly3048Ser)
|
rs1260877507
|
0.00001
|
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp)
|
rs766298464
|
0.00001
|
NM_206933.4(USH2A):c.9185A>G (p.Tyr3062Cys)
|
rs1368683731
|
0.00001
|
NM_206933.4(USH2A):c.91A>G (p.Thr31Ala)
|
rs373207201
|
0.00001
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
NM_206933.4(USH2A):c.9299G>A (p.Gly3100Glu)
|
rs533188575
|
0.00001
|
NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr)
|
rs140260219
|
0.00001
|
NM_206933.4(USH2A):c.9383T>A (p.Ile3128Asn)
|
rs1486433456
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
0.00001
|
NM_206933.4(USH2A):c.9484G>A (p.Asp3162Asn)
|
rs1042224866
|
0.00001
|
NM_206933.4(USH2A):c.9539G>C (p.Cys3180Ser)
|
rs1229658229
|
0.00001
|
NM_206933.4(USH2A):c.9549T>G (p.Ile3183Met)
|
rs1467970535
|
0.00001
|
NM_206933.4(USH2A):c.9565G>T (p.Ala3189Ser)
|
rs752996514
|
0.00001
|
NM_206933.4(USH2A):c.9613C>T (p.Arg3205Cys)
|
rs781059952
|
0.00001
|
NM_206933.4(USH2A):c.9638C>T (p.Pro3213Leu)
|
rs758383069
|
0.00001
|
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala)
|
rs776395355
|
0.00001
|
NM_206933.4(USH2A):c.9695C>A (p.Pro3232Gln)
|
rs774654676
|
0.00001
|
NM_206933.4(USH2A):c.9724G>A (p.Ala3242Thr)
|
rs373965999
|
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.9886G>A (p.Gly3296Ser)
|
rs371149685
|
0.00001
|
NM_206933.4(USH2A):c.9906C>T (p.Asn3302=)
|
rs757439664
|
0.00001
|
NM_206933.4(USH2A):c.9956C>T (p.Pro3319Leu)
|
rs761386458
|
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
|
GRCh37/hg19 1q41(chr1:215970331-216084727)x1
|
|
|
GRCh37/hg19 1q41(chr1:215972794-216035558)
|
|
|
GRCh37/hg19 1q41(chr1:216003062-216084727)
|
|
|
GRCh37/hg19 1q41(chr1:216208820-216274814)x1
|
|
|
GRCh37/hg19 1q41(chr1:216275329-216565051)x3
|
|
|
GRCh37/hg19 1q41(chr1:216405003-216565051)x1
|
|
|
NC_000001.10:g.(215916678_215931936)_(215940131_215953184)dup
|
|
|
NC_000001.10:g.(?_215798669)_(215799151_?)del
|
|
|
NC_000001.10:g.(?_215799113)_(216390902_?)dup
|
|
|
NC_000001.10:g.(?_215799123)_(215844655_?)dup
|
|
|
NC_000001.10:g.(?_215799123)_(215901746_?)dup
|
|
|
NC_000001.10:g.(?_215916519)_(215916677_?)del
|
|
|
NC_000001.10:g.(?_215931917)_(215933205_?)dup
|
|
|
NC_000001.10:g.(?_215987078)_(216108137_?)dup
|
|
|
NC_000001.10:g.(?_216138639)_(216144138_?)dup
|
|
|
NC_000001.10:g.(?_216138639)_(216405498_?)dup
|
|
|
NC_000001.10:g.(?_216219753)_(216270575_?)dup
|
|
|
NC_000001.10:g.(?_216462612)_(216596610_?)dup
|
|
|
NC_000001.10:g.(?_216591836)_(216596610_?)dup
|
|
|
NC_000001.10:g.(?_216591856)_(216595678_?)dup
|
|
|
NC_000001.11:g.(?_215758595)_(215759843_?)dup
|
|
|
NM_206933.2(USH2A):c.[15319C>T;3902G>T]
|
|
|
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.-229C>T
|
rs151238022
|
|
NM_206933.4(USH2A):c.-259G>T
|
|
|
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.10001C>T (p.Thr3334Ile)
|
|
|
NM_206933.4(USH2A):c.10003A>T (p.Ile3335Leu)
|
|
|
NM_206933.4(USH2A):c.10004T>C (p.Ile3335Thr)
|
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu)
|
rs746870063
|
|
NM_206933.4(USH2A):c.1001G>C (p.Arg334Pro)
|
rs758303489
|
|
NM_206933.4(USH2A):c.10024G>A (p.Gly3342Arg)
|
|
|
NM_206933.4(USH2A):c.10030T>C (p.Ser3344Pro)
|
|
|
NM_206933.4(USH2A):c.10030T>G (p.Ser3344Ala)
|
|
|
NM_206933.4(USH2A):c.10040A>C (p.His3347Pro)
|
rs1415565146
|
|
NM_206933.4(USH2A):c.10040A>G (p.His3347Arg)
|
rs1415565146
|
|
NM_206933.4(USH2A):c.10042A>G (p.Ile3348Val)
|
rs1198189028
|
|
NM_206933.4(USH2A):c.10046A>G (p.Lys3349Arg)
|
rs2102770016
|
|
NM_206933.4(USH2A):c.10056C>G (p.Asp3352Glu)
|
|
|
NM_206933.4(USH2A):c.10060G>C (p.Val3354Leu)
|
rs1661942086
|
|
NM_206933.4(USH2A):c.10061T>A (p.Val3354Glu)
|
|
|
NM_206933.4(USH2A):c.10076G>A (p.Cys3359Tyr)
|
|
|
NM_206933.4(USH2A):c.10087C>T (p.Leu3363Phe)
|
|
|
NM_206933.4(USH2A):c.10091T>C (p.Ile3364Thr)
|
|
|
NM_206933.4(USH2A):c.10096A>G (p.Lys3366Glu)
|
|
|
NM_206933.4(USH2A):c.10108T>G (p.Cys3370Gly)
|
rs1302364971
|
|
NM_206933.4(USH2A):c.10109G>T (p.Cys3370Phe)
|
rs1558099166
|
|
NM_206933.4(USH2A):c.10141T>C (p.Tyr3381His)
|
rs2102769888
|
|
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.10162T>C (p.Ser3388Pro)
|
|
|
NM_206933.4(USH2A):c.10165A>G (p.Thr3389Ala)
|
rs1341186496
|
|
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
NM_206933.4(USH2A):c.10182+3A>T
|
|
|
NM_206933.4(USH2A):c.10182+6T>G
|
|
|
NM_206933.4(USH2A):c.10182+6del
|
|
|
NM_206933.4(USH2A):c.10194G>T (p.Glu3398Asp)
|
|
|
NM_206933.4(USH2A):c.10199G>A (p.Arg3400Lys)
|
rs1431227070
|
|
NM_206933.4(USH2A):c.101G>A (p.Arg34Gln)
|
rs2039690682
|
|
NM_206933.4(USH2A):c.10211C>T (p.Pro3404Leu)
|
|
|
NM_206933.4(USH2A):c.10214C>A (p.Ala3405Glu)
|
rs547497252
|
|
NM_206933.4(USH2A):c.10219A>G (p.Met3407Val)
|
|
|
NM_206933.4(USH2A):c.1021C>T (p.Pro341Ser)
|
|
|
NM_206933.4(USH2A):c.10235A>T (p.His3412Leu)
|
|
|
NM_206933.4(USH2A):c.10240G>A (p.Gly3414Ser)
|
|
|
NM_206933.4(USH2A):c.10256A>G (p.Asn3419Ser)
|
|
|
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp)
|
rs1558097546
|
|
NM_206933.4(USH2A):c.10258T>C (p.Phe3420Leu)
|
|
|
NM_206933.4(USH2A):c.10259T>C (p.Phe3420Ser)
|
|
|
NM_206933.4(USH2A):c.1025T>C (p.Leu342Pro)
|
rs2037710344
|
|
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn)
|
rs773660267
|
|
NM_206933.4(USH2A):c.10274G>T (p.Cys3425Phe)
|
|
|
NM_206933.4(USH2A):c.10277C>G (p.Thr3426Ser)
|
|
|
NM_206933.4(USH2A):c.1027T>C (p.Ser343Pro)
|
rs397517965
|
|
NM_206933.4(USH2A):c.10284A>G (p.Ile3428Met)
|
rs1571686105
|
|
NM_206933.4(USH2A):c.1028C>A (p.Ser343Tyr)
|
rs2102655905
|
|
NM_206933.4(USH2A):c.10298A>G (p.Asn3433Ser)
|
|
|
NM_206933.4(USH2A):c.10312G>C (p.Ala3438Pro)
|
rs146980351
|
|
NM_206933.4(USH2A):c.10312G>T (p.Ala3438Ser)
|
|
|
NM_206933.4(USH2A):c.10313C>T (p.Ala3438Val)
|
|
|
NM_206933.4(USH2A):c.10322A>G (p.Glu3441Gly)
|
|
|
NM_206933.4(USH2A):c.10328T>C (p.Met3443Thr)
|
rs1661811672
|
|
NM_206933.4(USH2A):c.10330T>G (p.Cys3444Gly)
|
rs1661811625
|
|
NM_206933.4(USH2A):c.10345G>C (p.Glu3449Gln)
|
rs866083618
|
|
NM_206933.4(USH2A):c.10346A>C (p.Glu3449Ala)
|
rs1661810941
|
|
NM_206933.4(USH2A):c.10351A>G (p.Ile3451Val)
|
|
|
NM_206933.4(USH2A):c.10355A>G (p.His3452Arg)
|
|
|
NM_206933.4(USH2A):c.10373C>G (p.Thr3458Arg)
|
|
|
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)
|
rs1416602859
|
|
NM_206933.4(USH2A):c.10388-17_10388-7del
|
rs1442627890
|
|
NM_206933.4(USH2A):c.1038_1091dup (p.Thr363_Gln364insHisAspAsnAspValGlyThrSerTrpValSerAsnValPheThrAsnIleThr)
|
rs2037708032
|
|
NM_206933.4(USH2A):c.1039G>C (p.Asp347His)
|
rs772317024
|
|
NM_206933.4(USH2A):c.1039_1041del (p.Asp347del)
|
rs1553250786
|
|
NM_206933.4(USH2A):c.10411A>T (p.Thr3471Ser)
|
|
|
NM_206933.4(USH2A):c.10413A>G (p.Thr3471=)
|
rs530322386
|
|
NM_206933.4(USH2A):c.10414T>A (p.Tyr3472Asn)
|
rs375487139
|
|
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)
|
rs1553261469
|
|
NM_206933.4(USH2A):c.10417G>C (p.Glu3473Gln)
|
rs778879348
|
|
NM_206933.4(USH2A):c.1041T>C (p.Asp347=)
|
rs2102655884
|
|
NM_206933.4(USH2A):c.10424G>A (p.Arg3475Lys)
|
rs1661684078
|
|
NM_206933.4(USH2A):c.10425G>T (p.Arg3475Ser)
|
|
|
NM_206933.4(USH2A):c.10438A>C (p.Asn3480His)
|
rs2102763603
|
|
NM_206933.4(USH2A):c.10439A>G (p.Asn3480Ser)
|
|
|
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr)
|
rs1553261464
|
|
NM_206933.4(USH2A):c.10473A>G (p.Arg3491=)
|
|
|
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
|
rs771610821
|
|
NM_206933.4(USH2A):c.10478G>T (p.Arg3493Ile)
|
rs201182885
|
|
NM_206933.4(USH2A):c.10481C>G (p.Thr3494Arg)
|
rs1661681799
|
|
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
|
rs1241034250
|
|
NM_206933.4(USH2A):c.1048G>A (p.Val350Ile)
|
|
|
NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr)
|
rs1553261461
|
|
NM_206933.4(USH2A):c.10504G>C (p.Val3502Leu)
|
|
|
NM_206933.4(USH2A):c.10508G>A (p.Ser3503Asn)
|
|
|
NM_206933.4(USH2A):c.10509T>A (p.Ser3503Arg)
|
|
|
NM_206933.4(USH2A):c.10511C>T (p.Pro3504Leu)
|
|
|
NM_206933.4(USH2A):c.10514C>T (p.Pro3505Leu)
|
rs186570255
|
|
NM_206933.4(USH2A):c.10516A>C (p.Thr3506Pro)
|
|
|
NM_206933.4(USH2A):c.10523C>T (p.Thr3508Ile)
|
|
|
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.10544A>C (p.Asp3515Ala)
|
|
|
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly)
|
rs527236119
|
|
NM_206933.4(USH2A):c.1055C>G (p.Thr352Ser)
|
|
|
NM_206933.4(USH2A):c.10573A>G (p.Ile3525Val)
|
rs1214766432
|
|
NM_206933.4(USH2A):c.10584T>G (p.Asn3528Lys)
|
|
|
NM_206933.4(USH2A):c.10585+6G>C
|
|
|
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10592T>C (p.Ile3531Thr)
|
|
|
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
|
|
|
NM_206933.4(USH2A):c.10598A>G (p.Tyr3533Cys)
|
rs1447073164
|
|
NM_206933.4(USH2A):c.10603A>G (p.Ile3535Val)
|
|
|
NM_206933.4(USH2A):c.1060T>A (p.Trp354Arg)
|
rs2102655835
|
|
NM_206933.4(USH2A):c.10627C>T (p.Arg3543Cys)
|
|
|
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
|
|
|
NM_206933.4(USH2A):c.10631T>C (p.Phe3544Ser)
|
rs2102762754
|
|
NM_206933.4(USH2A):c.10634G>C (p.Arg3545Pro)
|
|
|
NM_206933.4(USH2A):c.10646T>G (p.Leu3549Arg)
|
rs868782593
|
|
NM_206933.4(USH2A):c.1064T>C (p.Val355Ala)
|
|
|
NM_206933.4(USH2A):c.10651T>C (p.Phe3551Leu)
|
|
|
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.10682A>G (p.Gln3561Arg)
|
|
|
NM_206933.4(USH2A):c.10693T>C (p.Tyr3565His)
|
rs1553261365
|
|
NM_206933.4(USH2A):c.1069A>C (p.Asn357His)
|
|
|
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)
|
rs144560419
|
|
NM_206933.4(USH2A):c.10720_10721delinsTT (p.Gly3574Phe)
|
rs1661658623
|
|
NM_206933.4(USH2A):c.10734T>C (p.Ser3578=)
|
rs1661658126
|
|
NM_206933.4(USH2A):c.10740+5G>A
|
rs2102762606
|
|
NM_206933.4(USH2A):c.10740+7G>A
|
rs201206110
|
|
NM_206933.4(USH2A):c.10740G>C (p.Lys3580Asn)
|
rs369507534
|
|
NM_206933.4(USH2A):c.10748C>T (p.Ala3583Val)
|
rs1661584369
|
|
NM_206933.4(USH2A):c.10750G>C (p.Ala3584Pro)
|
rs1167594983
|
|
NM_206933.4(USH2A):c.10754C>T (p.Thr3585Ile)
|
rs2102760750
|
|
NM_206933.4(USH2A):c.10756A>T (p.Thr3586Ser)
|
rs774505414
|
|
NM_206933.4(USH2A):c.1075T>C (p.Phe359Leu)
|
|
|
NM_206933.4(USH2A):c.10779C>G (p.Ile3593Met)
|
rs781539138
|
|
NM_206933.4(USH2A):c.10792A>C (p.Ile3598Leu)
|
rs993682170
|
|
NM_206933.4(USH2A):c.10810G>T (p.Val3604Leu)
|
|
|
NM_206933.4(USH2A):c.10811T>G (p.Val3604Gly)
|
rs2102760689
|
|
NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro)
|
|
|
NM_206933.4(USH2A):c.10826G>C (p.Ser3609Thr)
|
rs727504307
|
|
NM_206933.4(USH2A):c.10839T>C (p.Pro3613=)
|
|
|
NM_206933.4(USH2A):c.10842G>T (p.Glu3614Asp)
|
|
|
NM_206933.4(USH2A):c.10851C>A (p.Asn3617Lys)
|
rs12073994
|
|
NM_206933.4(USH2A):c.10853G>A (p.Gly3618Asp)
|
|
|
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
|
|
|
NM_206933.4(USH2A):c.10866G>C (p.Glu3622Asp)
|
rs749941664
|
|
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
|
|
|
NM_206933.4(USH2A):c.10882G>C (p.Val3628Leu)
|
rs1159530779
|
|
NM_206933.4(USH2A):c.10883T>C (p.Val3628Ala)
|
|
|
NM_206933.4(USH2A):c.10901A>G (p.His3634Arg)
|
rs1553261102
|
|
NM_206933.4(USH2A):c.10903A>C (p.Thr3635Pro)
|
|
|
NM_206933.4(USH2A):c.10904C>G (p.Thr3635Ser)
|
|
|
NM_206933.4(USH2A):c.10909A>C (p.Thr3637Pro)
|
|
|
NM_206933.4(USH2A):c.10924C>A (p.Gln3642Lys)
|
|
|
NM_206933.4(USH2A):c.10928A>G (p.His3643Arg)
|
rs772499596
|
|
NM_206933.4(USH2A):c.10928A>T (p.His3643Leu)
|
|
|
NM_206933.4(USH2A):c.10934T>A (p.Val3645Asp)
|
rs1571678968
|
|
NM_206933.4(USH2A):c.10939+293A>T
|
|
|
NM_206933.4(USH2A):c.10939+5G>A
|
|
|
NM_206933.4(USH2A):c.10939+5G>T
|
|
|
NM_206933.4(USH2A):c.10940-7T>G
|
|
|
NM_206933.4(USH2A):c.10951T>C (p.Tyr3651His)
|
rs2102748198
|
|
NM_206933.4(USH2A):c.10976C>T (p.Thr3659Ile)
|
|
|
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
|
|
|
NM_206933.4(USH2A):c.10994G>A (p.Gly3665Glu)
|
|
|
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly)
|
rs766505885
|
|
NM_206933.4(USH2A):c.11011C>G (p.Pro3671Ala)
|
|
|
NM_206933.4(USH2A):c.11012C>T (p.Pro3671Leu)
|
rs1238814587
|
|
NM_206933.4(USH2A):c.11021G>T (p.Gly3674Val)
|
|
|
NM_206933.4(USH2A):c.11023C>G (p.Gln3675Glu)
|
rs2102748093
|
|
NM_206933.4(USH2A):c.11026A>G (p.Thr3676Ala)
|
|
|
NM_206933.4(USH2A):c.11039C>T (p.Ala3680Val)
|
|
|
NM_206933.4(USH2A):c.11054G>C (p.Trp3685Ser)
|
|
|
NM_206933.4(USH2A):c.11056G>T (p.Val3686Leu)
|
rs1418854471
|
|
NM_206933.4(USH2A):c.11066G>A (p.Arg3689Gln)
|
|
|
NM_206933.4(USH2A):c.1106T>G (p.Val369Gly)
|
|
|
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn)
|
rs2102742330
|
|
NM_206933.4(USH2A):c.11081A>T (p.Asn3694Ile)
|
|
|
NM_206933.4(USH2A):c.11095G>C (p.Glu3699Gln)
|
rs755804518
|
|
NM_206933.4(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal)
|
rs1553259182
|
|
NM_206933.4(USH2A):c.110T>A (p.Phe37Tyr)
|
|
|
NM_206933.4(USH2A):c.11113C>T (p.Pro3705Ser)
|
rs868610068
|
|
NM_206933.4(USH2A):c.11121G>C (p.Lys3707Asn)
|
|
|
NM_206933.4(USH2A):c.11126A>G (p.Asn3709Ser)
|
|
|
NM_206933.4(USH2A):c.11127T>G (p.Asn3709Lys)
|
rs149260119
|
|
NM_206933.4(USH2A):c.11146C>A (p.Gln3716Lys)
|
|
|
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.11183G>T (p.Gly3728Val)
|
|
|
NM_206933.4(USH2A):c.11185A>C (p.Ser3729Arg)
|
|
|
NM_206933.4(USH2A):c.1118T>C (p.Val373Ala)
|
rs2037707193
|
|
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)
|
|
|
NM_206933.4(USH2A):c.11204C>T (p.Thr3735Ile)
|
|
|
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.11228G>A (p.Ser3743Asn)
|
rs112898958
|
|
NM_206933.4(USH2A):c.11233T>C (p.Tyr3745His)
|
|
|
NM_206933.4(USH2A):c.11237_11242del (p.Thr3746_Tyr3747del)
|
|
|
NM_206933.4(USH2A):c.1123T>G (p.Leu375Val)
|
|
|
NM_206933.4(USH2A):c.11261G>A (p.Gly3754Glu)
|
rs1660888048
|
|
NM_206933.4(USH2A):c.11279G>C (p.Ser3760Thr)
|
rs773373939
|
|
NM_206933.4(USH2A):c.11283T>A (p.Asp3761Glu)
|
rs1558085489
|
|
NM_206933.4(USH2A):c.11326T>C (p.Tyr3776His)
|
rs2102741250
|
|
NM_206933.4(USH2A):c.11327A>G (p.Tyr3776Cys)
|
rs926540982
|
|
NM_206933.4(USH2A):c.11338A>C (p.Asn3780His)
|
|
|
NM_206933.4(USH2A):c.11360A>C (p.Tyr3787Ser)
|
|
|
NM_206933.4(USH2A):c.11367A>G (p.Ile3789Met)
|
|
|
NM_206933.4(USH2A):c.11372T>G (p.Val3791Gly)
|
|
|
NM_206933.4(USH2A):c.11377T>C (p.Trp3793Arg)
|
rs895291691
|
|
NM_206933.4(USH2A):c.11380A>G (p.Ile3794Val)
|
rs1660883552
|
|
NM_206933.4(USH2A):c.11383C>T (p.Pro3795Ser)
|
rs1421953363
|
|
NM_206933.4(USH2A):c.11389G>A (p.Gly3797Arg)
|
rs1413394539
|
|
NM_206933.4(USH2A):c.11390-2del
|
rs760100733
|
|
NM_206933.4(USH2A):c.11420A>G (p.Tyr3807Cys)
|
|
|
NM_206933.4(USH2A):c.11423A>G (p.Asn3808Ser)
|
|
|
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg)
|
rs1553250774
|
|
NM_206933.4(USH2A):c.11434_11436del (p.Asn3812del)
|
rs1553257704
|
|
NM_206933.4(USH2A):c.11438A>T (p.Asp3813Val)
|
rs140483214
|
|
NM_206933.4(USH2A):c.11444G>C (p.Ser3815Thr)
|
rs1660357497
|
|
NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile)
|
|
|
NM_206933.4(USH2A):c.11488C>G (p.Leu3830Val)
|
rs2102727434
|
|
NM_206933.4(USH2A):c.11488C>T (p.Leu3830Phe)
|
|
|
NM_206933.4(USH2A):c.11500T>A (p.Leu3834Met)
|
rs1553257690
|
|
NM_206933.4(USH2A):c.1150T>C (p.Tyr384His)
|
|
|
NM_206933.4(USH2A):c.11531T>A (p.Ile3844Lys)
|
rs1210976361
|
|
NM_206933.4(USH2A):c.11532A>G (p.Ile3844Met)
|
|
|
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.11547T>C (p.Asn3849=)
|
|
|
NM_206933.4(USH2A):c.11548+4A>G
|
rs1286331476
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11549-5T>C
|
|
|
NM_206933.4(USH2A):c.1156A>G (p.Ile386Val)
|
rs2037685831
|
|
NM_206933.4(USH2A):c.11582A>G (p.Lys3861Arg)
|
|
|
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)
|
rs1064797132
|
|
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu)
|
rs35309576
|
|
NM_206933.4(USH2A):c.1160T>C (p.Ile387Thr)
|
|
|
NM_206933.4(USH2A):c.11617_11619del (p.Pro3873del)
|
rs747695930
|
|
NM_206933.4(USH2A):c.11630C>T (p.Ala3877Val)
|
rs771925133
|
|
NM_206933.4(USH2A):c.1163A>G (p.Gln388Arg)
|
|
|
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met)
|
rs397517975
|
|
NM_206933.4(USH2A):c.11659T>G (p.Trp3887Gly)
|
rs1660298981
|
|
NM_206933.4(USH2A):c.11665C>G (p.Pro3889Ala)
|
rs1660298579
|
|
NM_206933.4(USH2A):c.11669C>A (p.Pro3890His)
|
rs2102725604
|
|
NM_206933.4(USH2A):c.11684G>C (p.Gly3895Ala)
|
rs1472714005
|
|
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)
|
rs727504714
|
|
NM_206933.4(USH2A):c.116G>A (p.Arg39Lys)
|
rs2102789073
|
|
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter)
|
rs1553257498
|
|
NM_206933.4(USH2A):c.11711+6A>G
|
rs776220540
|
|
NM_206933.4(USH2A):c.11711+6A>T
|
|
|
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
|
|
|
NM_206933.4(USH2A):c.11712-3C>G
|
rs2102713855
|
|
NM_206933.4(USH2A):c.11712-5T>G
|
|
|
NM_206933.4(USH2A):c.11712A>G (p.Arg3904=)
|
|
|
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.11733G>T (p.Glu3911Asp)
|
|
|
NM_206933.4(USH2A):c.11738C>A (p.Ser3913Tyr)
|
|
|
NM_206933.4(USH2A):c.1174C>T (p.Pro392Ser)
|
|
|
NM_206933.4(USH2A):c.11762G>A (p.Gly3921Glu)
|
|
|
NM_206933.4(USH2A):c.11764G>A (p.Ala3922Thr)
|
rs745965437
|
|
NM_206933.4(USH2A):c.11765C>A (p.Ala3922Asp)
|
rs2102713765
|
|
NM_206933.4(USH2A):c.11784A>T (p.Glu3928Asp)
|
rs1659892808
|
|
NM_206933.4(USH2A):c.117G>C (p.Arg39Ser)
|
|
|
NM_206933.4(USH2A):c.11812T>C (p.Tyr3938His)
|
rs753038400
|
|
NM_206933.4(USH2A):c.11813A>G (p.Tyr3938Cys)
|
|
|
NM_206933.4(USH2A):c.11815_11817dup (p.Glu3939dup)
|
rs2102713686
|
|
NM_206933.4(USH2A):c.1181C>G (p.Pro394Arg)
|
rs775922302
|
|
NM_206933.4(USH2A):c.11821C>G (p.Arg3941Gly)
|
rs749942414
|
|
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile)
|
rs1659890930
|
|
NM_206933.4(USH2A):c.11828G>C (p.Arg3943Thr)
|
|
|
NM_206933.4(USH2A):c.11834G>A (p.Cys3945Tyr)
|
|
|
NM_206933.4(USH2A):c.11842A>G (p.Lys3948Glu)
|
rs1659890171
|
|
NM_206933.4(USH2A):c.11846G>T (p.Gly3949Val)
|
|
|
NM_206933.4(USH2A):c.11856G>C (p.Glu3952Asp)
|
|
|
NM_206933.4(USH2A):c.11856G>T (p.Glu3952Asp)
|
|
|
NM_206933.4(USH2A):c.11864_11866dup (p.Trp3955_Ser3956insTrp)
|
|
|
NM_206933.4(USH2A):c.11936A>G (p.His3979Arg)
|
|
|
NM_206933.4(USH2A):c.1193G>T (p.Arg398Met)
|
rs1329126988
|
|
NM_206933.4(USH2A):c.11960A>T (p.Lys3987Met)
|
rs2102713432
|
|
NM_206933.4(USH2A):c.11978_11979delinsTT (p.Gly3993Val)
|
|
|
NM_206933.4(USH2A):c.11987C>G (p.Ser3996Cys)
|
rs772463134
|
|
NM_206933.4(USH2A):c.11996G>A (p.Arg3999His)
|
|
|
NM_206933.4(USH2A):c.1199A>G (p.Gln400Arg)
|
|
|
NM_206933.4(USH2A):c.12016C>T (p.Pro4006Ser)
|
|
|
NM_206933.4(USH2A):c.12019G>A (p.Asp4007Asn)
|
|
|
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn)
|
rs866937010
|
|
NM_206933.4(USH2A):c.12027T>A (p.Pro4009=)
|
rs752752496
|
|
NM_206933.4(USH2A):c.1204AAG[1] (p.Lys403del)
|
|
|
NM_206933.4(USH2A):c.12050A>G (p.His4017Arg)
|
|
|
NM_206933.4(USH2A):c.12066+3_12066+4del
|
|
|
NM_206933.4(USH2A):c.12066G>T (p.Lys4022Asn)
|
|
|
NM_206933.4(USH2A):c.12067-4A>G
|
rs1558051325
|
|
NM_206933.4(USH2A):c.1206G>T (p.Lys402Asn)
|
|
|
NM_206933.4(USH2A):c.12081A>C (p.Gln4027His)
|
|
|
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val)
|
rs141528682
|
|
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg)
|
rs908265742
|
|
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val)
|
rs878853409
|
|
NM_206933.4(USH2A):c.120G>A (p.Leu40=)
|
|
|
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
|
|
|
NM_206933.4(USH2A):c.12109A>C (p.Thr4037Pro)
|
rs778499057
|
|
NM_206933.4(USH2A):c.1210G>A (p.Glu404Lys)
|
|
|
NM_206933.4(USH2A):c.12116A>G (p.Tyr4039Cys)
|
rs1658185167
|
|
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
|
|
|
NM_206933.4(USH2A):c.12119G>A (p.Arg4040His)
|
|
|
NM_206933.4(USH2A):c.12122T>C (p.Ile4041Thr)
|
rs1558051246
|
|
NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del)
|
rs1553252937
|
|
NM_206933.4(USH2A):c.12131T>A (p.Val4044Glu)
|
|
|
NM_206933.4(USH2A):c.12139_12147del (p.Asn4047_Ala4049del)
|
rs1553252931
|
|
NM_206933.4(USH2A):c.12145G>T (p.Ala4049Ser)
|
|
|
NM_206933.4(USH2A):c.1214A>T (p.Asn405Ile)
|
|
|
NM_206933.4(USH2A):c.1216A>G (p.Ser406Gly)
|
|
|
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe)
|
|
|
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
|
|
|
NM_206933.4(USH2A):c.12199A>G (p.Ser4067Gly)
|
|
|
NM_206933.4(USH2A):c.12214T>C (p.Phe4072Leu)
|
|
|
NM_206933.4(USH2A):c.12218T>C (p.Ile4073Thr)
|
|
|
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
|
|
|
NM_206933.4(USH2A):c.12265G>A (p.Glu4089Lys)
|
rs1658179050
|
|
NM_206933.4(USH2A):c.12266A>T (p.Glu4089Val)
|
|
|
NM_206933.4(USH2A):c.12267A>T (p.Glu4089Asp)
|
|
|
NM_206933.4(USH2A):c.12270T>C (p.Pro4090=)
|
|
|
NM_206933.4(USH2A):c.12271A>G (p.Met4091Val)
|
rs144168442
|
|
NM_206933.4(USH2A):c.12271A>T (p.Met4091Leu)
|
rs144168442
|
|
NM_206933.4(USH2A):c.12282T>A (p.Asn4094Lys)
|
|
|
NM_206933.4(USH2A):c.12289A>G (p.Ile4097Val)
|
|
|
NM_206933.4(USH2A):c.12294G>A (p.Lys4098=)
|
|
|
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
|
rs1657997491
|
|
NM_206933.4(USH2A):c.122A>T (p.Glu41Val)
|
|
|
NM_206933.4(USH2A):c.12305T>A (p.Ile4102Asn)
|
|
|
NM_206933.4(USH2A):c.12306C>G (p.Ile4102Met)
|
rs2102667184
|
|
NM_206933.4(USH2A):c.12320T>G (p.Phe4107Cys)
|
|
|
NM_206933.4(USH2A):c.12328T>A (p.Tyr4110Asn)
|
rs531504195
|
|
NM_206933.4(USH2A):c.12328T>C (p.Tyr4110His)
|
|
|
NM_206933.4(USH2A):c.12334G>A (p.Gly4112Ser)
|
|
|
NM_206933.4(USH2A):c.1233C>A (p.Asp411Glu)
|
|
|
NM_206933.4(USH2A):c.12350T>C (p.Phe4117Ser)
|
|
|
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.12401C>T (p.Ala4134Val)
|
|
|
NM_206933.4(USH2A):c.12403T>G (p.Cys4135Gly)
|
|
|
NM_206933.4(USH2A):c.12409A>G (p.Arg4137Gly)
|
|
|
NM_206933.4(USH2A):c.12419G>C (p.Cys4140Ser)
|
|
|
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)
|
rs1064797131
|
|
NM_206933.4(USH2A):c.1241A>G (p.Tyr414Cys)
|
rs1571702162
|
|
NM_206933.4(USH2A):c.12443T>C (p.Leu4148Pro)
|
rs886042767
|
|
NM_206933.4(USH2A):c.12463C>T (p.Pro4155Ser)
|
|
|
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.12479C>T (p.Ala4160Val)
|
|
|
NM_206933.4(USH2A):c.12482C>T (p.Pro4161Leu)
|
|
|
NM_206933.4(USH2A):c.12484A>G (p.Thr4162Ala)
|
rs1363933493
|
|
NM_206933.4(USH2A):c.12502T>A (p.Ser4168Thr)
|
rs2102666831
|
|
NM_206933.4(USH2A):c.12509G>A (p.Ser4170Asn)
|
|
|
NM_206933.4(USH2A):c.12522C>G (p.Ser4174Arg)
|
|
|
NM_206933.4(USH2A):c.1252A>T (p.Asn418Tyr)
|
rs2102654132
|
|
NM_206933.4(USH2A):c.12546T>G (p.Asn4182Lys)
|
rs1657986831
|
|
NM_206933.4(USH2A):c.12554T>A (p.Ile4185Lys)
|
|
|
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)
|
rs147304271
|
|
NM_206933.4(USH2A):c.12575G>T (p.Arg4192Leu)
|
rs199605265
|
|
NM_206933.4(USH2A):c.12578G>C (p.Arg4193Thr)
|
rs1657985421
|
|
NM_206933.4(USH2A):c.12582C>T (p.Cys4194=)
|
rs1571949553
|
|
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys)
|
rs770065010
|
|
NM_206933.4(USH2A):c.1258G>A (p.Gly420Ser)
|
rs2037680211
|
|
NM_206933.4(USH2A):c.12590G>A (p.Gly4197Glu)
|
|
|
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
|
|
|
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
|
|
|
NM_206933.4(USH2A):c.12614T>C (p.Ile4205Thr)
|
|
|
NM_206933.4(USH2A):c.12622G>A (p.Asp4208Asn)
|
|
|
NM_206933.4(USH2A):c.12624C>A (p.Asp4208Glu)
|
rs375223901
|
|
NM_206933.4(USH2A):c.12624C>G (p.Asp4208Glu)
|
|
|
NM_206933.4(USH2A):c.12634G>T (p.Val4212Phe)
|
rs2102666612
|
|
NM_206933.4(USH2A):c.12653C>T (p.Thr4218Ile)
|
rs2102666585
|
|
NM_206933.4(USH2A):c.12656A>C (p.Glu4219Ala)
|
|
|
NM_206933.4(USH2A):c.12674A>G (p.Tyr4225Cys)
|
|
|
NM_206933.4(USH2A):c.12679G>A (p.Asp4227Asn)
|
|
|
NM_206933.4(USH2A):c.12683C>T (p.Thr4228Ile)
|
|
|
NM_206933.4(USH2A):c.12685G>A (p.Gly4229Ser)
|
|
|
NM_206933.4(USH2A):c.1268G>A (p.Gly423Glu)
|
|
|
NM_206933.4(USH2A):c.12695C>A (p.Pro4232Gln)
|
rs745371873
|
|
NM_206933.4(USH2A):c.126C>G (p.Asn42Lys)
|
rs774473277
|
|
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)
|
rs577938494
|
|
NM_206933.4(USH2A):c.12701C>G (p.Thr4234Arg)
|
rs564240175
|
|
NM_206933.4(USH2A):c.12706T>A (p.Cys4236Ser)
|
rs2102666455
|
|
NM_206933.4(USH2A):c.1270A>T (p.Met424Leu)
|
rs2102654082
|
|
NM_206933.4(USH2A):c.12711A>G (p.Glu4237=)
|
rs1657976025
|
|
NM_206933.4(USH2A):c.12713A>G (p.Tyr4238Cys)
|
|
|
NM_206933.4(USH2A):c.12722A>G (p.Tyr4241Cys)
|
|
|
NM_206933.4(USH2A):c.12725C>T (p.Thr4242Ile)
|
rs1416457172
|
|
NM_206933.4(USH2A):c.12730A>C (p.Asn4244His)
|
|
|
NM_206933.4(USH2A):c.12737C>A (p.Ala4246Asp)
|
|
|
NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly)
|
rs1553252489
|
|
NM_206933.4(USH2A):c.12743A>T (p.His4248Leu)
|
rs145830318
|
|
NM_206933.4(USH2A):c.12763G>A (p.Val4255Met)
|
rs1177374928
|
|
NM_206933.4(USH2A):c.12765_12766delinsCT (p.Val4256Leu)
|
rs2102666364
|
|
NM_206933.4(USH2A):c.1277A>G (p.Asn426Ser)
|
|
|
NM_206933.4(USH2A):c.12781G>A (p.Ala4261Thr)
|
|
|
NM_206933.4(USH2A):c.12782C>T (p.Ala4261Val)
|
|
|
NM_206933.4(USH2A):c.12794G>T (p.Gly4265Val)
|
rs769342088
|
|
NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg)
|
rs1553252475
|
|
NM_206933.4(USH2A):c.12806C>T (p.Pro4269Leu)
|
rs1553252475
|
|
NM_206933.4(USH2A):c.12848T>G (p.Ile4283Ser)
|
rs754131049
|
|
NM_206933.4(USH2A):c.12851C>T (p.Ser4284Phe)
|
|
|
NM_206933.4(USH2A):c.12854G>T (p.Trp4285Leu)
|
|
|
NM_206933.4(USH2A):c.12863C>A (p.Pro4288Gln)
|
|
|
NM_206933.4(USH2A):c.12863C>T (p.Pro4288Leu)
|
|
|
NM_206933.4(USH2A):c.12872C>G (p.Ser4291Cys)
|
|
|
NM_206933.4(USH2A):c.12875A>C (p.Asn4292Thr)
|
|
|
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser)
|
rs727505117
|
|
NM_206933.4(USH2A):c.12884T>A (p.Ile4295Asn)
|
|
|
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.12897G>C (p.Arg4299Ser)
|
rs143898511
|
|
NM_206933.4(USH2A):c.12899T>C (p.Leu4300Pro)
|
|
|
NM_206933.4(USH2A):c.12904A>G (p.Arg4302Gly)
|
|
|
NM_206933.4(USH2A):c.12910G>A (p.Glu4304Lys)
|
rs1657961774
|
|
NM_206933.4(USH2A):c.12914T>C (p.Met4305Thr)
|
rs763192052
|
|
NM_206933.4(USH2A):c.12926T>G (p.Phe4309Cys)
|
rs1657960533
|
|
NM_206933.4(USH2A):c.12929G>T (p.Ser4310Ile)
|
|
|
NM_206933.4(USH2A):c.12932T>C (p.Phe4311Ser)
|
rs1657960260
|
|
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
|
|
|
NM_206933.4(USH2A):c.12955A>C (p.Thr4319Pro)
|
|
|
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala)
|
rs1657955894
|
|
NM_206933.4(USH2A):c.12974C>G (p.Pro4325Arg)
|
rs925327591
|
|
NM_206933.4(USH2A):c.12974C>T (p.Pro4325Leu)
|
rs925327591
|
|
NM_206933.4(USH2A):c.12976T>C (p.Phe4326Leu)
|
|
|
NM_206933.4(USH2A):c.1298C>A (p.Pro433His)
|
|
|
NM_206933.4(USH2A):c.13004C>A (p.Ala4335Asp)
|
rs771748964
|
|
NM_206933.4(USH2A):c.13006T>C (p.Cys4336Arg)
|
|
|
NM_206933.4(USH2A):c.13010C>A (p.Thr4337Lys)
|
|
|
NM_206933.4(USH2A):c.13015G>C (p.Gly4339Arg)
|
|
|
NM_206933.4(USH2A):c.13021T>G (p.Cys4341Gly)
|
|
|
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe)
|
rs397517985
|
|
NM_206933.4(USH2A):c.13025C>T (p.Ser4342Phe)
|
|
|
NM_206933.4(USH2A):c.13034_13045del (p.Lys4345_Ser4348del)
|
|
|
NM_206933.4(USH2A):c.13052C>T (p.Thr4351Ile)
|
|
|
NM_206933.4(USH2A):c.13071A>C (p.Ser4357=)
|
rs568141672
|
|
NM_206933.4(USH2A):c.13078A>G (p.Ser4360Gly)
|
rs794727825
|
|
NM_206933.4(USH2A):c.13079G>A (p.Ser4360Asn)
|
rs1657949687
|
|
NM_206933.4(USH2A):c.13102A>C (p.Ser4368Arg)
|
|
|
NM_206933.4(USH2A):c.13111C>G (p.Gln4371Glu)
|
rs2102665798
|
|
NM_206933.4(USH2A):c.13120G>A (p.Val4374Ile)
|
|
|
NM_206933.4(USH2A):c.13123T>C (p.Cys4375Arg)
|
rs1558048384
|
|
NM_206933.4(USH2A):c.13123T>G (p.Cys4375Gly)
|
rs1558048384
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
NM_206933.4(USH2A):c.1312T>A (p.Cys438Ser)
|
rs2102654032
|
|
NM_206933.4(USH2A):c.13133C>A (p.Pro4378Gln)
|
|
|
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.13175G>C (p.Arg4392Thr)
|
|
|
NM_206933.4(USH2A):c.13185T>A (p.Asn4395Lys)
|
|
|
NM_206933.4(USH2A):c.13193C>G (p.Ser4398Cys)
|
rs144200261
|
|
NM_206933.4(USH2A):c.13193C>T (p.Ser4398Phe)
|
rs144200261
|
|
NM_206933.4(USH2A):c.13198G>A (p.Ala4400Thr)
|
|
|
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser)
|
rs541022183
|
|
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu)
|
rs2039690182
|
|
NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val)
|
rs763576540
|
|
NM_206933.4(USH2A):c.13222G>A (p.Val4408Ile)
|
rs111033500
|
|
NM_206933.4(USH2A):c.13222G>T (p.Val4408Phe)
|
rs111033500
|
|
NM_206933.4(USH2A):c.13228C>T (p.His4410Tyr)
|
|
|
NM_206933.4(USH2A):c.13232T>C (p.Leu4411Pro)
|
rs2102665605
|
|
NM_206933.4(USH2A):c.13238C>G (p.Pro4413Arg)
|
rs1553252404
|
|
NM_206933.4(USH2A):c.13240T>C (p.Tyr4414His)
|
rs1657941106
|
|
NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe)
|
rs146240320
|
|
NM_206933.4(USH2A):c.13267G>A (p.Ala4423Thr)
|
|
|
NM_206933.4(USH2A):c.13268C>T (p.Ala4423Val)
|
rs755480221
|
|
NM_206933.4(USH2A):c.13278T>A (p.Asn4426Lys)
|
|
|
NM_206933.4(USH2A):c.1327A>G (p.Asn443Asp)
|
rs775075026
|
|
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val)
|
rs1234273599
|
|
NM_206933.4(USH2A):c.13296T>G (p.Ser4432Arg)
|
rs2102665525
|
|
NM_206933.4(USH2A):c.13307C>G (p.Ser4436Cys)
|
rs751208743
|
|
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg)
|
rs372802465
|
|
NM_206933.4(USH2A):c.13321G>C (p.Glu4441Gln)
|
rs2102665456
|
|
NM_206933.4(USH2A):c.13324G>C (p.Ala4442Pro)
|
|
|
NM_206933.4(USH2A):c.13337A>C (p.Asn4446Thr)
|
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13340T>C (p.Met4447Thr)
|
|
|
NM_206933.4(USH2A):c.13346C>T (p.Ser4449Phe)
|
|
|
NM_206933.4(USH2A):c.1334C>G (p.Thr445Ser)
|
|
|
NM_206933.4(USH2A):c.1334C>T (p.Thr445Ile)
|
|
|
NM_206933.4(USH2A):c.13351A>G (p.Thr4451Ala)
|
rs1401165417
|
|
NM_206933.4(USH2A):c.13352C>T (p.Thr4451Ile)
|
|
|
NM_206933.4(USH2A):c.13355T>C (p.Leu4452Ser)
|
|
|
NM_206933.4(USH2A):c.13360G>A (p.Val4454Ile)
|
|
|
NM_206933.4(USH2A):c.1336C>T (p.Pro446Ser)
|
|
|
NM_206933.4(USH2A):c.13385T>G (p.Ile4462Ser)
|
|
|
NM_206933.4(USH2A):c.13390T>C (p.Trp4464Arg)
|
rs1403832675
|
|
NM_206933.4(USH2A):c.13392G>T (p.Trp4464Cys)
|
|
|
NM_206933.4(USH2A):c.13407C>A (p.Asn4469Lys)
|
rs1657932622
|
|
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.13424G>T (p.Arg4475Ile)
|
rs766291467
|
|
NM_206933.4(USH2A):c.13430A>T (p.Tyr4477Phe)
|
|
|
NM_206933.4(USH2A):c.13436T>C (p.Leu4479Pro)
|
|
|
NM_206933.4(USH2A):c.13444G>A (p.Asp4482Asn)
|
rs1657930957
|
|
NM_206933.4(USH2A):c.1345C>T (p.Arg449Cys)
|
|
|
NM_206933.4(USH2A):c.1346G>T (p.Arg449Leu)
|
rs766715882
|
|
NM_206933.4(USH2A):c.13483C>G (p.Arg4495Gly)
|
|
|
NM_206933.4(USH2A):c.13492A>G (p.Thr4498Ala)
|
|
|
NM_206933.4(USH2A):c.13495C>G (p.Leu4499Val)
|
|
|
NM_206933.4(USH2A):c.1349G>T (p.Gly450Val)
|
|
|
NM_206933.4(USH2A):c.13502C>G (p.Pro4501Arg)
|
|
|
NM_206933.4(USH2A):c.13507G>A (p.Val4503Met)
|
rs375419632
|
|
NM_206933.4(USH2A):c.13511A>C (p.Glu4504Ala)
|
|
|
NM_206933.4(USH2A):c.13513T>C (p.Tyr4505His)
|
|
|
NM_206933.4(USH2A):c.13519T>C (p.Tyr4507His)
|
|
|
NM_206933.4(USH2A):c.13529C>A (p.Thr4510Asn)
|
|
|
NM_206933.4(USH2A):c.13531G>A (p.Ala4511Thr)
|
|
|
NM_206933.4(USH2A):c.13534A>G (p.Ser4512Gly)
|
rs1323696539
|
|
NM_206933.4(USH2A):c.13536C>A (p.Ser4512Arg)
|
|
|
NM_206933.4(USH2A):c.13549G>A (p.Gly4517Ser)
|
rs763154327
|
|
NM_206933.4(USH2A):c.13553T>C (p.Ile4518Thr)
|
|
|
NM_206933.4(USH2A):c.1355T>A (p.Val452Asp)
|
rs1393756456
|
|
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
NM_206933.4(USH2A):c.13572A>C (p.Lys4524Asn)
|
|
|
NM_206933.4(USH2A):c.13586C>G (p.Pro4529Arg)
|
rs754560573
|
|
NM_206933.4(USH2A):c.13586C>T (p.Pro4529Leu)
|
rs754560573
|
|
NM_206933.4(USH2A):c.13589C>T (p.Ser4530Leu)
|
|
|
NM_206933.4(USH2A):c.1358C>T (p.Thr453Ile)
|
rs2102653345
|
|
NM_206933.4(USH2A):c.13590A>G (p.Ser4530=)
|
rs1343900269
|
|
NM_206933.4(USH2A):c.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.13649T>G (p.Val4550Gly)
|
rs553956503
|
|
NM_206933.4(USH2A):c.1364G>A (p.Ser455Asn)
|
|
|
NM_206933.4(USH2A):c.13660C>T (p.Pro4554Ser)
|
|
|
NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup)
|
rs1553252347
|
|
NM_206933.4(USH2A):c.13681G>A (p.Asp4561Asn)
|
|
|
NM_206933.4(USH2A):c.13685T>C (p.Ile4562Thr)
|
rs2102664718
|
|
NM_206933.4(USH2A):c.13696A>G (p.Thr4566Ala)
|
|
|
NM_206933.4(USH2A):c.13696_13697insTCA (p.Tyr4565_Thr4566insIle)
|
|
|
NM_206933.4(USH2A):c.13699C>G (p.Leu4567Val)
|
|
|
NM_206933.4(USH2A):c.13700T>G (p.Leu4567Arg)
|
rs1237653705
|
|
NM_206933.4(USH2A):c.13708C>T (p.Arg4570Cys)
|
|
|
NM_206933.4(USH2A):c.13711G>A (p.Glu4571Lys)
|
|
|
NM_206933.4(USH2A):c.13730C>G (p.Thr4577Ser)
|
rs1657915062
|
|
NM_206933.4(USH2A):c.13732A>C (p.Lys4578Gln)
|
rs765354805
|
|
NM_206933.4(USH2A):c.13740A>G (p.Ile4580Met)
|
rs1416382135
|
|
NM_206933.4(USH2A):c.13750dup (p.Thr4584fs)
|
rs1553252328
|
|
NM_206933.4(USH2A):c.13757A>G (p.His4586Arg)
|
rs1657913699
|
|
NM_206933.4(USH2A):c.13769G>A (p.Gly4590Asp)
|
|
|
NM_206933.4(USH2A):c.13776G>C (p.Gln4592His)
|
rs1350039852
|
|
NM_206933.4(USH2A):c.1377T>A (p.Pro459=)
|
rs1064797140
|
|
NM_206933.4(USH2A):c.13791C>A (p.Asn4597Lys)
|
rs1352188508
|
|
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu)
|
rs2037663922
|
|
NM_206933.4(USH2A):c.137T>A (p.Phe46Tyr)
|
rs2102789019
|
|
NM_206933.4(USH2A):c.13803A>T (p.Pro4601=)
|
rs929186272
|
|
NM_206933.4(USH2A):c.13805T>C (p.Phe4602Ser)
|
rs574442439
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13811+3A>G
|
rs760716728
|
|
NM_206933.4(USH2A):c.13814A>G (p.Tyr4605Cys)
|
|
|
NM_206933.4(USH2A):c.13820T>A (p.Ile4607Lys)
|
rs764431065
|
|
NM_206933.4(USH2A):c.13823G>C (p.Arg4608Pro)
|
|
|
NM_206933.4(USH2A):c.13832C>G (p.Ala4611Gly)
|
rs376077079
|
|
NM_206933.4(USH2A):c.13838C>T (p.Thr4613Ile)
|
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.1384A>T (p.Asn462Tyr)
|
|
|
NM_206933.4(USH2A):c.13854A>G (p.Ala4618=)
|
|
|
NM_206933.4(USH2A):c.13858A>G (p.Ser4620Gly)
|
|
|
NM_206933.4(USH2A):c.13859G>A (p.Ser4620Asn)
|
|
|
NM_206933.4(USH2A):c.13876C>G (p.Gln4626Glu)
|
rs1657805631
|
|
NM_206933.4(USH2A):c.1387_1419delinsACT (p.Tyr463_Asn472del)
|
rs2037662587
|
|
NM_206933.4(USH2A):c.13880C>T (p.Thr4627Ile)
|
|
|
NM_206933.4(USH2A):c.13882C>G (p.Pro4628Ala)
|
rs1571945599
|
|
NM_206933.4(USH2A):c.13887G>T (p.Glu4629Asp)
|
|
|
NM_206933.4(USH2A):c.13891G>A (p.Ala4631Thr)
|
|
|
NM_206933.4(USH2A):c.13894C>G (p.Pro4632Ala)
|
|
|
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
|
|
|
NM_206933.4(USH2A):c.13907C>A (p.Pro4636His)
|
|
|
NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu)
|
rs150600947
|
|
NM_206933.4(USH2A):c.13909C>T (p.Pro4637Ser)
|
|
|
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)
|
rs1423536179
|
|
NM_206933.4(USH2A):c.13916A>C (p.His4639Pro)
|
|
|
NM_206933.4(USH2A):c.1391G>T (p.Arg464Leu)
|
rs771000800
|
|
NM_206933.4(USH2A):c.13936C>A (p.Pro4646Thr)
|
|
|
NM_206933.4(USH2A):c.13940G>A (p.Gly4647Glu)
|
|
|
NM_206933.4(USH2A):c.13957G>A (p.Val4653Ile)
|
|
|
NM_206933.4(USH2A):c.13957G>C (p.Val4653Leu)
|
|
|
NM_206933.4(USH2A):c.13964T>C (p.Leu4655Pro)
|
|
|
NM_206933.4(USH2A):c.13969T>C (p.Trp4657Arg)
|
|
|
NM_206933.4(USH2A):c.13978C>T (p.Pro4660Ser)
|
|
|
NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln)
|
rs761367363
|
|
NM_206933.4(USH2A):c.13979C>T (p.Pro4660Leu)
|
|
|
NM_206933.4(USH2A):c.14018A>G (p.Tyr4673Cys)
|
|
|
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)
|
rs397517987
|
|
NM_206933.4(USH2A):c.14032G>C (p.Ala4678Pro)
|
rs1657799048
|
|
NM_206933.4(USH2A):c.14050T>C (p.Ser4684Pro)
|
rs1463849396
|
|
NM_206933.4(USH2A):c.14053A>G (p.Asn4685Asp)
|
rs1657798161
|
|
NM_206933.4(USH2A):c.14054A>T (p.Asn4685Ile)
|
|
|
NM_206933.4(USH2A):c.14066T>C (p.Ile4689Thr)
|
rs2102661230
|
|
NM_206933.4(USH2A):c.14080T>C (p.Ser4694Pro)
|
rs2102661208
|
|
NM_206933.4(USH2A):c.1410C>A (p.Phe470Leu)
|
rs772146621
|
|
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)
|
rs1064797129
|
|
NM_206933.4(USH2A):c.14134-16T>A
|
rs1657048929
|
|
NM_206933.4(USH2A):c.14134-5T>C
|
rs2102645100
|
|
NM_206933.4(USH2A):c.14142A>T (p.Ala4714=)
|
|
|
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp)
|
rs2102645078
|
|
NM_206933.4(USH2A):c.14152G>C (p.Ala4718Pro)
|
rs1038432544
|
|
NM_206933.4(USH2A):c.14152G>T (p.Ala4718Ser)
|
|
|
NM_206933.4(USH2A):c.14162C>T (p.Ala4721Val)
|
|
|
NM_206933.4(USH2A):c.14173T>C (p.Trp4725Arg)
|
|
|
NM_206933.4(USH2A):c.14191G>T (p.Gly4731Trp)
|
|
|
NM_206933.4(USH2A):c.14195C>T (p.Pro4732Leu)
|
|
|
NM_206933.4(USH2A):c.14203C>T (p.Pro4735Ser)
|
rs1164439183
|
|
NM_206933.4(USH2A):c.14204C>A (p.Pro4735Gln)
|
|
|
NM_206933.4(USH2A):c.14204C>G (p.Pro4735Arg)
|
rs1333608275
|
|
NM_206933.4(USH2A):c.14210G>T (p.Gly4737Val)
|
|
|
NM_206933.4(USH2A):c.14217A>T (p.Arg4739Ser)
|
rs754413984
|
|
NM_206933.4(USH2A):c.14218G>A (p.Ala4740Thr)
|
|
|
NM_206933.4(USH2A):c.14221C>T (p.Pro4741Ser)
|
|
|
NM_206933.4(USH2A):c.14225C>G (p.Thr4742Arg)
|
rs370157230
|
|
NM_206933.4(USH2A):c.14231A>C (p.His4744Pro)
|
rs1020335802
|
|
NM_206933.4(USH2A):c.14232T>A (p.His4744Gln)
|
|
|
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.14249A>G (p.Gln4750Arg)
|
rs762923475
|
|
NM_206933.4(USH2A):c.14254G>A (p.Val4752Met)
|
rs770161970
|
|
NM_206933.4(USH2A):c.14254G>C (p.Val4752Leu)
|
|
|
NM_206933.4(USH2A):c.14255T>G (p.Val4752Gly)
|
|
|
NM_206933.4(USH2A):c.14257G>A (p.Val4753Ile)
|
rs2102644873
|
|
NM_206933.4(USH2A):c.14261A>C (p.Asn4754Thr)
|
|
|
NM_206933.4(USH2A):c.14269G>A (p.Ala4757Thr)
|
|
|
NM_206933.4(USH2A):c.14272C>A (p.Pro4758Thr)
|
rs1159107276
|
|
NM_206933.4(USH2A):c.14272C>T (p.Pro4758Ser)
|
rs1159107276
|
|
NM_206933.4(USH2A):c.14275G>A (p.Gly4759Arg)
|
|
|
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.14293G>A (p.Val4765Ile)
|
|
|
NM_206933.4(USH2A):c.14300T>C (p.Leu4767Pro)
|
rs2102644814
|
|
NM_206933.4(USH2A):c.14302T>C (p.Tyr4768His)
|
rs1657029565
|
|
NM_206933.4(USH2A):c.14305A>G (p.Arg4769Gly)
|
rs2102644801
|
|
NM_206933.4(USH2A):c.14322C>A (p.Ser4774Arg)
|
|
|
NM_206933.4(USH2A):c.14323G>A (p.Ala4775Thr)
|
|
|
NM_206933.4(USH2A):c.14338A>G (p.Thr4780Ala)
|
|
|
NM_206933.4(USH2A):c.14381G>A (p.Gly4794Asp)
|
|
|
NM_206933.4(USH2A):c.14396C>T (p.Thr4799Ile)
|
rs2102643267
|
|
NM_206933.4(USH2A):c.14404T>G (p.Ser4802Ala)
|
|
|
NM_206933.4(USH2A):c.14408T>C (p.Ile4803Thr)
|
rs1056524280
|
|
NM_206933.4(USH2A):c.14413G>T (p.Val4805Leu)
|
rs147532612
|
|
NM_206933.4(USH2A):c.14422T>G (p.Cys4808Gly)
|
rs1656943516
|
|
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
|
|
|
NM_206933.4(USH2A):c.14429G>T (p.Cys4810Phe)
|
|
|
NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr)
|
rs746985615
|
|
NM_206933.4(USH2A):c.14437T>C (p.Cys4813Arg)
|
|
|
NM_206933.4(USH2A):c.14437T>G (p.Cys4813Gly)
|
|
|
NM_206933.4(USH2A):c.14449G>A (p.Gly4817Arg)
|
|
|
NM_206933.4(USH2A):c.1444G>A (p.Ala482Thr)
|
rs767953686
|
|
NM_206933.4(USH2A):c.14465T>C (p.Leu4822Pro)
|
|
|
NM_206933.4(USH2A):c.14468G>T (p.Arg4823Ile)
|
rs1454673004
|
|
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
|
|
|
NM_206933.4(USH2A):c.1447A>G (p.Thr483Ala)
|
|
|
NM_206933.4(USH2A):c.14495T>G (p.Leu4832Arg)
|
rs756183521
|
|
NM_206933.4(USH2A):c.14525C>T (p.Ser4842Leu)
|
rs1558037018
|
|
NM_206933.4(USH2A):c.14527A>G (p.Arg4843Gly)
|
|
|
NM_206933.4(USH2A):c.14531C>A (p.Thr4844Lys)
|
rs200570742
|
|
NM_206933.4(USH2A):c.14533G>A (p.Ala4845Thr)
|
|
|
NM_206933.4(USH2A):c.14537C>G (p.Ser4846Cys)
|
rs781558053
|
|
NM_206933.4(USH2A):c.14537C>T (p.Ser4846Phe)
|
|
|
NM_206933.4(USH2A):c.14573T>A (p.Val4858Asp)
|
|
|
NM_206933.4(USH2A):c.14579A>G (p.His4860Arg)
|
|
|
NM_206933.4(USH2A):c.14582+5T>C
|
rs2102642980
|
|
NM_206933.4(USH2A):c.14585A>G (p.Tyr4862Cys)
|
|
|
NM_206933.4(USH2A):c.14609G>A (p.Cys4870Tyr)
|
rs2102642261
|
|
NM_206933.4(USH2A):c.14627T>C (p.Leu4876Pro)
|
|
|
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.14654C>A (p.Thr4885Lys)
|
rs2102642208
|
|
NM_206933.4(USH2A):c.14663C>T (p.Thr4888Met)
|
|
|
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly)
|
rs1469032409
|
|
NM_206933.4(USH2A):c.1468C>T (p.His490Tyr)
|
|
|
NM_206933.4(USH2A):c.14699A>G (p.Gln4900Arg)
|
|
|
NM_206933.4(USH2A):c.1469A>C (p.His490Pro)
|
|
|
NM_206933.4(USH2A):c.146T>A (p.Val49Asp)
|
rs1553258115
|
|
NM_206933.4(USH2A):c.14702C>T (p.Pro4901Leu)
|
|
|
NM_206933.4(USH2A):c.1472G>A (p.Gly491Glu)
|
rs1310745557
|
|
NM_206933.4(USH2A):c.14736C>A (p.His4912Gln)
|
rs768786074
|
|
NM_206933.4(USH2A):c.14748C>T (p.Gly4916=)
|
rs749572330
|
|
NM_206933.4(USH2A):c.14753C>A (p.Thr4918Lys)
|
rs56136489
|
|
NM_206933.4(USH2A):c.14767A>G (p.Ile4923Val)
|
|
|
NM_206933.4(USH2A):c.14776A>C (p.Thr4926Pro)
|
rs2102642050
|
|
NM_206933.4(USH2A):c.14780C>T (p.Thr4927Ile)
|
|
|
NM_206933.4(USH2A):c.14807C>A (p.Ala4936Asp)
|
rs1656651399
|
|
NM_206933.4(USH2A):c.14826C>A (p.Ser4942Arg)
|
|
|
NM_206933.4(USH2A):c.14828A>G (p.Asn4943Ser)
|
rs1656649391
|
|
NM_206933.4(USH2A):c.14843G>C (p.Cys4948Ser)
|
|
|
NM_206933.4(USH2A):c.14857G>T (p.Asp4953Tyr)
|
|
|
NM_206933.4(USH2A):c.14865C>G (p.Phe4955Leu)
|
rs1656647981
|
|
NM_206933.4(USH2A):c.14876G>A (p.Gly4959Asp)
|
rs1656647412
|
|
NM_206933.4(USH2A):c.1487C>T (p.Thr496Ile)
|
|
|
NM_206933.4(USH2A):c.14888A>G (p.Glu4963Gly)
|
rs2102636000
|
|
NM_206933.4(USH2A):c.14893G>A (p.Val4965Met)
|
rs149289393
|
|
NM_206933.4(USH2A):c.14893G>C (p.Val4965Leu)
|
|
|
NM_206933.4(USH2A):c.14905G>A (p.Gly4969Arg)
|
|
|
NM_206933.4(USH2A):c.14909G>A (p.Gly4970Glu)
|
|
|
NM_206933.4(USH2A):c.14912G>A (p.Arg4971Gln)
|
|
|
NM_206933.4(USH2A):c.14915G>A (p.Arg4972His)
|
|
|
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
|
|
|
NM_206933.4(USH2A):c.14923A>G (p.Ser4975Gly)
|
rs147514366
|
|
NM_206933.4(USH2A):c.14934C>T (p.Asp4978=)
|
|
|
NM_206933.4(USH2A):c.14936C>A (p.Thr4979Asn)
|
rs1453030908
|
|
NM_206933.4(USH2A):c.14939C>T (p.Thr4980Ile)
|
rs1656642884
|
|
NM_206933.4(USH2A):c.14941C>A (p.Leu4981Ile)
|
rs2102635897
|
|
NM_206933.4(USH2A):c.14945A>G (p.Tyr4982Cys)
|
|
|
NM_206933.4(USH2A):c.14948T>A (p.Ile4983Lys)
|
rs765747576
|
|
NM_206933.4(USH2A):c.14950C>G (p.Pro4984Ala)
|
|
|
NM_206933.4(USH2A):c.14961G>T (p.Ala4987=)
|
rs568581229
|
|
NM_206933.4(USH2A):c.14965A>C (p.Lys4989Gln)
|
|
|
NM_206933.4(USH2A):c.14966A>G (p.Lys4989Arg)
|
|
|
NM_206933.4(USH2A):c.14969C>G (p.Thr4990Ser)
|
|
|
NM_206933.4(USH2A):c.14970CTT[1] (p.Phe4993del)
|
rs1553249310
|
|
NM_206933.4(USH2A):c.14971T>A (p.Phe4991Ile)
|
rs2102634719
|
|
NM_206933.4(USH2A):c.14993C>T (p.Thr4998Met)
|
|
|
NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala)
|
rs1553249303
|
|
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
|
|
|
NM_206933.4(USH2A):c.15002A>C (p.Glu5001Ala)
|
rs1558033265
|
|
NM_206933.4(USH2A):c.15010G>T (p.Val5004Phe)
|
|
|
NM_206933.4(USH2A):c.15013A>C (p.Lys5005Gln)
|
|
|
NM_206933.4(USH2A):c.15017C>A (p.Thr5006Lys)
|
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
NM_206933.4(USH2A):c.15041C>A (p.Ser5014Tyr)
|
rs1656595783
|
|
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile)
|
rs1029854359
|
|
NM_206933.4(USH2A):c.1504C>G (p.Leu502Val)
|
rs2037659986
|
|
NM_206933.4(USH2A):c.15050T>C (p.Leu5017Pro)
|
rs2102634590
|
|
NM_206933.4(USH2A):c.15053-3C>T
|
|
|
NM_206933.4(USH2A):c.15057G>C (p.Leu5019Phe)
|
|
|
NM_206933.4(USH2A):c.15111C>G (p.Phe5037Leu)
|
|
|
NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del)
|
rs1553248836
|
|
NM_206933.4(USH2A):c.15117C>A (p.Ser5039Arg)
|
rs148499621
|
|
NM_206933.4(USH2A):c.15118G>A (p.Glu5040Lys)
|
|
|
NM_206933.4(USH2A):c.15125G>C (p.Trp5042Ser)
|
rs2102630643
|
|
NM_206933.4(USH2A):c.15139A>G (p.Met5047Val)
|
|
|
NM_206933.4(USH2A):c.15142G>T (p.Ala5048Ser)
|
|
|
NM_206933.4(USH2A):c.15147_15160del (p.Met5049fs)
|
rs1553248832
|
|
NM_206933.4(USH2A):c.15149T>C (p.Leu5050Pro)
|
rs2102630593
|
|
NM_206933.4(USH2A):c.1515A>G (p.Arg505=)
|
rs2102652955
|
|
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del)
|
rs1553250595
|
|
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)
|
|
|
NM_206933.4(USH2A):c.151A>G (p.Ile51Val)
|
rs886043442
|
|
NM_206933.4(USH2A):c.151A>T (p.Ile51Phe)
|
rs886043442
|
|
NM_206933.4(USH2A):c.15203A>G (p.His5068Arg)
|
|
|
NM_206933.4(USH2A):c.15205A>G (p.Lys5069Glu)
|
|
|
NM_206933.4(USH2A):c.15211C>A (p.Pro5071Thr)
|
|
|
NM_206933.4(USH2A):c.15212C>T (p.Pro5071Leu)
|
rs556353178
|
|
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr)
|
rs397517999
|
|
NM_206933.4(USH2A):c.15237G>C (p.Leu5079Phe)
|
|
|
NM_206933.4(USH2A):c.15238G>T (p.Val5080Leu)
|
rs1558031463
|
|
NM_206933.4(USH2A):c.15244C>A (p.Leu5082Ile)
|
|
|
NM_206933.4(USH2A):c.15259T>A (p.Ser5087Thr)
|
rs1656409856
|
|
NM_206933.4(USH2A):c.15268A>C (p.Asn5090His)
|
|
|
NM_206933.4(USH2A):c.1526T>G (p.Val509Gly)
|
|
|
NM_206933.4(USH2A):c.15277C>G (p.Pro5093Ala)
|
rs758329379
|
|
NM_206933.4(USH2A):c.15290A>G (p.Asn5097Ser)
|
|
|
NM_206933.4(USH2A):c.15298-18_15301dup
|
rs1553248238
|
|
NM_206933.4(USH2A):c.15306C>G (p.Ala5102=)
|
rs149506333
|
|
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
|
|
|
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)
|
rs767209934
|
|
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)
|
rs746098518
|
|
NM_206933.4(USH2A):c.15329G>A (p.Gly5110Glu)
|
|
|
NM_206933.4(USH2A):c.15337G>T (p.Val5113Leu)
|
|
|
NM_206933.4(USH2A):c.1534A>G (p.Ile512Val)
|
|
|
NM_206933.4(USH2A):c.15358A>G (p.Ser5120Gly)
|
|
|
NM_206933.4(USH2A):c.15359G>A (p.Ser5120Asn)
|
rs1349191153
|
|
NM_206933.4(USH2A):c.15361G>C (p.Ala5121Pro)
|
|
|
NM_206933.4(USH2A):c.15373C>G (p.Arg5125Gly)
|
rs771243585
|
|
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
|
|
|
NM_206933.4(USH2A):c.15376A>C (p.Ile5126Leu)
|
rs1027282224
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.15458A>G (p.Asp5153Gly)
|
rs776555719
|
|
NM_206933.4(USH2A):c.15463A>G (p.Lys5155Glu)
|
|
|
NM_206933.4(USH2A):c.15465dup (p.Val5156fs)
|
rs769582796
|
|
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
|
|
|
NM_206933.4(USH2A):c.15496A>T (p.Ile5166Phe)
|
|
|
NM_206933.4(USH2A):c.15499A>C (p.Met5167Leu)
|
rs755573653
|
|
NM_206933.4(USH2A):c.1551-15T>A
|
|
|
NM_206933.4(USH2A):c.1551-27A>G
|
|
|
NM_206933.4(USH2A):c.1551-5T>G
|
rs770011395
|
|
NM_206933.4(USH2A):c.1551-9T>A
|
rs995537756
|
|
NM_206933.4(USH2A):c.15519+1dup
|
|
|
NM_206933.4(USH2A):c.15519+3G>A
|
|
|
NM_206933.4(USH2A):c.15520-8T>G
|
rs1020138041
|
|
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn)
|
rs774383785
|
|
NM_206933.4(USH2A):c.15543G>C (p.Met5181Ile)
|
|
|
NM_206933.4(USH2A):c.15545A>C (p.Asn5182Thr)
|
|
|
NM_206933.4(USH2A):c.15548C>T (p.Ala5183Val)
|
|
|
NM_206933.4(USH2A):c.15552C>G (p.Ile5184Met)
|
rs1656001161
|
|
NM_206933.4(USH2A):c.15554A>G (p.Lys5185Arg)
|
|
|
NM_206933.4(USH2A):c.15559T>A (p.Phe5187Ile)
|
|
|
NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr)
|
rs779531682
|
|
NM_206933.4(USH2A):c.15574A>G (p.Lys5192Glu)
|
|
|
NM_206933.4(USH2A):c.15576_15579del (p.Lys5192fs)
|
|
|
NM_206933.4(USH2A):c.15577del (p.Glu5193fs)
|
rs1553313073
|
|
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
|
rs727505155
|
|
NM_206933.4(USH2A):c.15581G>T (p.Arg5194Leu)
|
rs727505155
|
|
NM_206933.4(USH2A):c.15583A>G (p.Thr5195Ala)
|
|
|
NM_206933.4(USH2A):c.15584C>G (p.Thr5195Ser)
|
rs915038916
|
|
NM_206933.4(USH2A):c.15599C>A (p.Thr5200Asn)
|
rs2102621224
|
|
NM_206933.4(USH2A):c.15601C>A (p.His5201Asn)
|
rs1571912105
|
|
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)
|
rs772624410
|
|
NM_206933.4(USH2A):c.1579T>C (p.Cys527Arg)
|
rs1207157360
|
|
NM_206933.4(USH2A):c.1579T>G (p.Cys527Gly)
|
rs1207157360
|
|
NM_206933.4(USH2A):c.157C>G (p.Pro53Ala)
|
|
|
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe)
|
rs755735339
|
|
NM_206933.4(USH2A):c.1586CAA[1] (p.Thr530del)
|
rs1553250409
|
|
NM_206933.4(USH2A):c.1588A>G (p.Thr530Ala)
|
rs2037620114
|
|
NM_206933.4(USH2A):c.1589C>G (p.Thr530Arg)
|
rs76458883
|
|
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)
|
rs111033273
|
|
NM_206933.4(USH2A):c.1609C>T (p.Leu537Phe)
|
|
|
NM_206933.4(USH2A):c.1625G>T (p.Ser542Ile)
|
|
|
NM_206933.4(USH2A):c.1637G>A (p.Gly546Glu)
|
rs267598378
|
|
NM_206933.4(USH2A):c.1644+5G>C
|
rs1558036810
|
|
NM_206933.4(USH2A):c.1644+5G>T
|
|
|
NM_206933.4(USH2A):c.1644T>A (p.His548Gln)
|
|
|
NM_206933.4(USH2A):c.1645-18T>A
|
rs2102611191
|
|
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser)
|
rs1064797139
|
|
NM_206933.4(USH2A):c.1646G>A (p.Cys549Tyr)
|
|
|
NM_206933.4(USH2A):c.1648G>C (p.Asp550His)
|
rs727504805
|
|
NM_206933.4(USH2A):c.1651C>T (p.Arg551Cys)
|
|
|
NM_206933.4(USH2A):c.1654T>A (p.Cys552Ser)
|
|
|
NM_206933.4(USH2A):c.1661C>T (p.Pro554Leu)
|
|
|
NM_206933.4(USH2A):c.166G>A (p.Ala56Thr)
|
rs2102788940
|
|
NM_206933.4(USH2A):c.1672G>A (p.Asp558Asn)
|
rs1553327490
|
|
NM_206933.4(USH2A):c.1678C>A (p.Pro560Thr)
|
|
|
NM_206933.4(USH2A):c.1678C>T (p.Pro560Ser)
|
rs147509797
|
|
NM_206933.4(USH2A):c.1679C>A (p.Pro560His)
|
rs753669484
|
|
NM_206933.4(USH2A):c.1696C>A (p.Gln566Lys)
|
|
|
NM_206933.4(USH2A):c.1705G>A (p.Ala569Thr)
|
|
|
NM_206933.4(USH2A):c.1723T>A (p.Cys575Ser)
|
|
|
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.1744A>C (p.Lys582Gln)
|
rs1447197199
|
|
NM_206933.4(USH2A):c.1757ACA[1] (p.Asn587del)
|
rs2037015853
|
|
NM_206933.4(USH2A):c.1772A>G (p.Asp591Gly)
|
rs2102610850
|
|
NM_206933.4(USH2A):c.1786G>A (p.Glu596Lys)
|
|
|
NM_206933.4(USH2A):c.1786_1787delinsAG (p.Glu596Arg)
|
rs2102610807
|
|
NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala)
|
rs772955674
|
|
NM_206933.4(USH2A):c.1802G>T (p.Gly601Val)
|
|
|
NM_206933.4(USH2A):c.1808G>A (p.Gly603Glu)
|
rs1427232199
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.1820A>T (p.Asp607Val)
|
|
|
NM_206933.4(USH2A):c.1827G>C (p.Glu609Asp)
|
|
|
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.1837A>G (p.Thr613Ala)
|
|
|
NM_206933.4(USH2A):c.1839A>G (p.Thr613=)
|
rs950551285
|
|
NM_206933.4(USH2A):c.1840+2dup
|
|
|
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg)
|
rs768436928
|
|
NM_206933.4(USH2A):c.1841-377A>G
|
|
|
NM_206933.4(USH2A):c.1888G>T (p.Ala630Ser)
|
|
|
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro)
|
rs369806765
|
|
NM_206933.4(USH2A):c.1891G>A (p.Asp631Asn)
|
rs552400144
|
|
NM_206933.4(USH2A):c.1891G>C (p.Asp631His)
|
rs552400144
|
|
NM_206933.4(USH2A):c.1901C>T (p.Ala634Val)
|
|
|
NM_206933.4(USH2A):c.1903A>C (p.Ile635Leu)
|
|
|
NM_206933.4(USH2A):c.1909G>A (p.Val637Ile)
|
rs2102606347
|
|
NM_206933.4(USH2A):c.1924G>C (p.Asp642His)
|
rs1363062252
|
|
NM_206933.4(USH2A):c.1934C>T (p.Thr645Ile)
|
rs397518004
|
|
NM_206933.4(USH2A):c.1971+14A>C
|
|
|
NM_206933.4(USH2A):c.1971G>C (p.Gln657His)
|
|
|
NM_206933.4(USH2A):c.1975G>A (p.Gly659Arg)
|
rs2036153374
|
|
NM_206933.4(USH2A):c.1984_2031dup (p.Cys662_Gln677dup)
|
rs2102551934
|
|
NM_206933.4(USH2A):c.1995G>C (p.Lys665Asn)
|
rs969622620
|
|
NM_206933.4(USH2A):c.2001C>A (p.His667Gln)
|
|
|
NM_206933.4(USH2A):c.2002G>A (p.Val668Met)
|
rs1404273822
|
|
NM_206933.4(USH2A):c.2017T>C (p.Cys673Arg)
|
|
|
NM_206933.4(USH2A):c.2030A>G (p.Gln677Arg)
|
|
|
NM_206933.4(USH2A):c.203A>T (p.His68Leu)
|
|
|
NM_206933.4(USH2A):c.2046T>G (p.Asn682Lys)
|
rs767262784
|
|
NM_206933.4(USH2A):c.2062C>T (p.Pro688Ser)
|
rs1571622927
|
|
NM_206933.4(USH2A):c.2077C>A (p.Pro693Thr)
|
rs1571622904
|
|
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.2098G>A (p.Gly700Arg)
|
|
|
NM_206933.4(USH2A):c.2099G>A (p.Gly700Glu)
|
|
|
NM_206933.4(USH2A):c.2102C>G (p.Thr701Arg)
|
|
|
NM_206933.4(USH2A):c.2108A>T (p.Asp703Val)
|
rs2036148045
|
|
NM_206933.4(USH2A):c.2135C>T (p.Ser712Leu)
|
rs575411062
|
|
NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser)
|
rs1304016981
|
|
NM_206933.4(USH2A):c.2149T>C (p.Cys717Arg)
|
rs1304016981
|
|
NM_206933.4(USH2A):c.2155G>A (p.Ala719Thr)
|
rs1407269297
|
|
NM_206933.4(USH2A):c.2161G>A (p.Val721Ile)
|
|
|
NM_206933.4(USH2A):c.2168-7T>G
|
rs2102546546
|
|
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg)
|
rs2102546492
|
|
NM_206933.4(USH2A):c.2202A>G (p.Lys734=)
|
rs1416725341
|
|
NM_206933.4(USH2A):c.2210G>A (p.Arg737Gln)
|
rs778957703
|
|
NM_206933.4(USH2A):c.2218A>T (p.Asn740Tyr)
|
rs1229489278
|
|
NM_206933.4(USH2A):c.221A>C (p.Glu74Ala)
|
rs774419989
|
|
NM_206933.4(USH2A):c.2223T>G (p.Asp741Glu)
|
rs1487392425
|
|
NM_206933.4(USH2A):c.2225T>C (p.Val742Ala)
|
|
|
NM_206933.4(USH2A):c.2228G>C (p.Gly743Ala)
|
rs727504638
|
|
NM_206933.4(USH2A):c.2228G>T (p.Gly743Val)
|
rs727504638
|
|
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)
|
rs751035557
|
|
NM_206933.4(USH2A):c.2236C>G (p.Pro746Ala)
|
rs2036068018
|
|
NM_206933.4(USH2A):c.2237C>T (p.Pro746Leu)
|
rs2036067969
|
|
NM_206933.4(USH2A):c.2242C>A (p.Gln748Lys)
|
rs897424186
|
|
NM_206933.4(USH2A):c.224G>A (p.Ser75Asn)
|
|
|
NM_206933.4(USH2A):c.2258G>A (p.Gly753Asp)
|
|
|
NM_206933.4(USH2A):c.2261C>T (p.Ser754Leu)
|
|
|
NM_206933.4(USH2A):c.2293C>G (p.Gln765Glu)
|
rs777629750
|
|
NM_206933.4(USH2A):c.22T>A (p.Leu8Met)
|
|
|
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
|
|
|
NM_206933.4(USH2A):c.235T>C (p.Cys79Arg)
|
|
|
NM_206933.4(USH2A):c.251G>A (p.Cys84Tyr)
|
rs1247310031
|
|
NM_206933.4(USH2A):c.252T>G (p.Cys84Trp)
|
|
|
NM_206933.4(USH2A):c.253A>G (p.Ile85Val)
|
rs770983063
|
|
NM_206933.4(USH2A):c.253A>T (p.Ile85Phe)
|
|
|
NM_206933.4(USH2A):c.257A>T (p.Gln86Leu)
|
|
|
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.2810G>T (p.Gly937Val)
|
rs1572074313
|
|
NM_206933.4(USH2A):c.2821T>G (p.Ser941Ala)
|
|
|
NM_206933.4(USH2A):c.2835C>T (p.Ala945=)
|
rs1311224729
|
|
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala)
|
rs754932972
|
|
NM_206933.4(USH2A):c.283C>A (p.Pro95Thr)
|
|
|
NM_206933.4(USH2A):c.2840G>A (p.Gly947Asp)
|
|
|
NM_206933.4(USH2A):c.2844C>G (p.Cys948Trp)
|
rs753787393
|
|
NM_206933.4(USH2A):c.2848C>T (p.Pro950Ser)
|
rs552925338
|
|
NM_206933.4(USH2A):c.2857T>C (p.Cys953Arg)
|
rs762059922
|
|
NM_206933.4(USH2A):c.2861A>G (p.His954Arg)
|
|
|
NM_206933.4(USH2A):c.2864C>A (p.Thr955Lys)
|
|
|
NM_206933.4(USH2A):c.2866A>G (p.Thr956Ala)
|
|
|
NM_206933.4(USH2A):c.2867C>G (p.Thr956Ser)
|
|
|
NM_206933.4(USH2A):c.2867C>T (p.Thr956Ile)
|
rs2035707966
|
|
NM_206933.4(USH2A):c.2869G>A (p.Gly957Ser)
|
|
|
NM_206933.4(USH2A):c.2879A>G (p.Asn960Ser)
|
|
|
NM_206933.4(USH2A):c.2880T>C (p.Asn960=)
|
rs151177516
|
|
NM_206933.4(USH2A):c.2882A>C (p.His961Pro)
|
rs1263825299
|
|
NM_206933.4(USH2A):c.2888G>A (p.Cys963Tyr)
|
|
|
NM_206933.4(USH2A):c.2888G>T (p.Cys963Phe)
|
|
|
NM_206933.4(USH2A):c.2924C>T (p.Ala975Val)
|
|
|
NM_206933.4(USH2A):c.2941C>T (p.Arg981Cys)
|
|
|
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
|
|
|
NM_206933.4(USH2A):c.2945G>A (p.Cys982Tyr)
|
rs2102522146
|
|
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg)
|
rs1171264735
|
|
NM_206933.4(USH2A):c.295G>A (p.Ala99Thr)
|
rs2039686454
|
|
NM_206933.4(USH2A):c.2966A>G (p.Tyr989Cys)
|
|
|
NM_206933.4(USH2A):c.2989G>A (p.Gly997Arg)
|
rs397518009
|
|
NM_206933.4(USH2A):c.2992A>G (p.Arg998Gly)
|
rs794727135
|
|
NM_206933.4(USH2A):c.2993+3A>T
|
rs1201261740
|
|
NM_206933.4(USH2A):c.2994-12C>T
|
|
|
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.2999A>C (p.Gln1000Pro)
|
rs1486615749
|
|
NM_206933.4(USH2A):c.299T>A (p.Leu100His)
|
rs1558082163
|
|
NM_206933.4(USH2A):c.299T>C (p.Leu100Pro)
|
rs1558082163
|
|
NM_206933.4(USH2A):c.3002C>G (p.Pro1001Arg)
|
|
|
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser)
|
rs2035366945
|
|
NM_206933.4(USH2A):c.3017T>C (p.Leu1006Pro)
|
|
|
NM_206933.4(USH2A):c.3019T>A (p.Ser1007Thr)
|
|
|
NM_206933.4(USH2A):c.3025G>T (p.Ala1009Ser)
|
|
|
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp)
|
rs150729680
|
|
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
|
|
|
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)
|
rs150729680
|
|
NM_206933.4(USH2A):c.3052A>C (p.Thr1018Pro)
|
rs2102496402
|
|
NM_206933.4(USH2A):c.3055G>C (p.Gly1019Arg)
|
rs1485822127
|
|
NM_206933.4(USH2A):c.3095G>A (p.Cys1032Tyr)
|
rs762711963
|
|
NM_206933.4(USH2A):c.3098A>G (p.Asp1033Gly)
|
rs2102496329
|
|
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser)
|
rs1396798963
|
|
NM_206933.4(USH2A):c.3131T>A (p.Val1044Asp)
|
rs2102496261
|
|
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del)
|
rs1396847135
|
|
NM_206933.4(USH2A):c.3149G>T (p.Cys1050Phe)
|
rs1475306303
|
|
NM_206933.4(USH2A):c.3157+3_3157+5delinsTAA
|
|
|
NM_206933.4(USH2A):c.3157+5G>A
|
rs777673655
|
|
NM_206933.4(USH2A):c.3158-2A>G
|
rs878853404
|
|
NM_206933.4(USH2A):c.3158-8_3158-3del
|
rs2102481081
|
|
NM_206933.4(USH2A):c.3169C>G (p.Gln1057Glu)
|
rs1558317549
|
|
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg)
|
rs111033377
|
|
NM_206933.4(USH2A):c.3172C>A (p.Pro1058Thr)
|
|
|
NM_206933.4(USH2A):c.3189A>C (p.Gln1063His)
|
rs1369422361
|
|
NM_206933.4(USH2A):c.3199TCT[1] (p.Ser1068del)
|
rs1461275915
|
|
NM_206933.4(USH2A):c.3241A>G (p.Asn1081Asp)
|
rs1553315006
|
|
NM_206933.4(USH2A):c.3245C>T (p.Ala1082Val)
|
rs2102480859
|
|
NM_206933.4(USH2A):c.3250_3251insTACTTACAGTTTACT (p.His1083_Trp1084insLeuLeuThrValTyr)
|
rs1553314999
|
|
NM_206933.4(USH2A):c.3301G>T (p.Asp1101Tyr)
|
rs993134836
|
|
NM_206933.4(USH2A):c.3308A>T (p.Tyr1103Phe)
|
rs2102480705
|
|
NM_206933.4(USH2A):c.3311C>G (p.Pro1104Arg)
|
rs778168432
|
|
NM_206933.4(USH2A):c.3316+6T>C
|
rs373631038
|
|
NM_206933.4(USH2A):c.3317-14del
|
rs376363548
|
|
NM_206933.4(USH2A):c.3328T>A (p.Phe1110Ile)
|
|
|
NM_206933.4(USH2A):c.3344T>C (p.Leu1115Pro)
|
rs151122789
|
|
NM_206933.4(USH2A):c.3344T>G (p.Leu1115Arg)
|
|
|
NM_206933.4(USH2A):c.335A>G (p.Asp112Gly)
|
|
|
NM_206933.4(USH2A):c.336C>G (p.Asp112Glu)
|
|
|
NM_206933.4(USH2A):c.3371A>G (p.Tyr1124Cys)
|
|
|
NM_206933.4(USH2A):c.3389T>G (p.Val1130Gly)
|
|
|
NM_206933.4(USH2A):c.3403A>G (p.Arg1135Gly)
|
rs2034947949
|
|
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.3428C>A (p.Thr1143Lys)
|
|
|
NM_206933.4(USH2A):c.3433C>T (p.Pro1145Ser)
|
|
|
NM_206933.4(USH2A):c.343G>C (p.Asp115His)
|
|
|
NM_206933.4(USH2A):c.3455T>C (p.Leu1152Ser)
|
rs2034946086
|
|
NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser)
|
rs1064797137
|
|
NM_206933.4(USH2A):c.3464G>A (p.Ser1155Asn)
|
rs760702994
|
|
NM_206933.4(USH2A):c.3469A>C (p.Ile1157Leu)
|
rs773317776
|
|
NM_206933.4(USH2A):c.349C>A (p.His117Asn)
|
rs372053865
|
|
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
|
|
|
NM_206933.4(USH2A):c.3509C>T (p.Thr1170Ile)
|
rs2034944380
|
|
NM_206933.4(USH2A):c.3529G>C (p.Gly1177Arg)
|
|
|
NM_206933.4(USH2A):c.352C>A (p.Pro118Thr)
|
|
|
NM_206933.4(USH2A):c.3532C>A (p.Pro1178Thr)
|
rs372081834
|
|
NM_206933.4(USH2A):c.3536T>C (p.Ile1179Thr)
|
rs560279665
|
|
NM_206933.4(USH2A):c.353C>T (p.Pro118Leu)
|
rs2039684908
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
NM_206933.4(USH2A):c.3553T>C (p.Ser1185Pro)
|
|
|
NM_206933.4(USH2A):c.357C>A (p.Asn119Lys)
|
rs562750831
|
|
NM_206933.4(USH2A):c.3583T>C (p.Cys1195Arg)
|
rs2034942169
|
|
NM_206933.4(USH2A):c.3584G>C (p.Cys1195Ser)
|
rs727504652
|
|
NM_206933.4(USH2A):c.3595G>A (p.Glu1199Lys)
|
|
|
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
|
rs1294733964
|
|
NM_206933.4(USH2A):c.359C>G (p.Ala120Gly)
|
|
|
NM_206933.4(USH2A):c.35T>G (p.Phe12Cys)
|
|
|
NM_206933.4(USH2A):c.3619A>G (p.Ile1207Val)
|
|
|
NM_206933.4(USH2A):c.361C>T (p.His121Tyr)
|
rs2102788499
|
|
NM_206933.4(USH2A):c.3620T>A (p.Ile1207Asn)
|
rs2102466754
|
|
NM_206933.4(USH2A):c.3638T>C (p.Phe1213Ser)
|
|
|
NM_206933.4(USH2A):c.3640G>A (p.Ala1214Thr)
|
|
|
NM_206933.4(USH2A):c.3650A>G (p.Asp1217Gly)
|
|
|
NM_206933.4(USH2A):c.3655T>C (p.Ser1219Pro)
|
|
|
NM_206933.4(USH2A):c.3657T>A (p.Ser1219=)
|
|
|
NM_206933.4(USH2A):c.3660A>G (p.Val1220=)
|
rs2034940102
|
|
NM_206933.4(USH2A):c.3667T>C (p.Cys1223Arg)
|
|
|
NM_206933.4(USH2A):c.366C>A (p.Ser122Arg)
|
|
|
NM_206933.4(USH2A):c.3676G>A (p.Gly1226Arg)
|
|
|
NM_206933.4(USH2A):c.3676G>T (p.Gly1226Trp)
|
rs770349057
|
|
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=)
|
rs376090043
|
|
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
|
|
|
NM_206933.4(USH2A):c.3698C>G (p.Pro1233Arg)
|
rs2102466478
|
|
NM_206933.4(USH2A):c.3713C>G (p.Thr1238Arg)
|
rs768461447
|
|
NM_206933.4(USH2A):c.3715G>A (p.Ala1239Thr)
|
rs373698501
|
|
NM_206933.4(USH2A):c.3718C>A (p.Gln1240Lys)
|
|
|
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.3736C>G (p.Leu1246Val)
|
|
|
NM_206933.4(USH2A):c.3737T>G (p.Leu1246Arg)
|
|
|
NM_206933.4(USH2A):c.3748A>G (p.Lys1250Glu)
|
|
|
NM_206933.4(USH2A):c.3752T>C (p.Met1251Thr)
|
|
|
NM_206933.4(USH2A):c.3755A>G (p.Gln1252Arg)
|
rs2034936624
|
|
NM_206933.4(USH2A):c.3764G>T (p.Ser1255Ile)
|
rs753188233
|
|
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)
|
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
|
|
|
NM_206933.4(USH2A):c.3836A>G (p.Tyr1279Cys)
|
|
|
NM_206933.4(USH2A):c.3840G>A (p.Met1280Ile)
|
|
|
NM_206933.4(USH2A):c.386T>C (p.Phe129Ser)
|
|
|
NM_206933.4(USH2A):c.3874G>A (p.Glu1292Lys)
|
|
|
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.3895A>G (p.Ser1299Gly)
|
|
|
NM_206933.4(USH2A):c.3901G>A (p.Gly1301Ser)
|
|
|
NM_206933.4(USH2A):c.3932C>T (p.Ser1311Leu)
|
|
|
NM_206933.4(USH2A):c.3959C>T (p.Pro1320Leu)
|
|
|
NM_206933.4(USH2A):c.3962A>C (p.Gln1321Pro)
|
|
|
NM_206933.4(USH2A):c.396C>A (p.His132Gln)
|
rs1332733047
|
|
NM_206933.4(USH2A):c.3973A>G (p.Thr1325Ala)
|
|
|
NM_206933.4(USH2A):c.3994T>C (p.Tyr1332His)
|
rs2034902104
|
|
NM_206933.4(USH2A):c.3998C>G (p.Thr1333Ser)
|
rs1282015565
|
|
NM_206933.4(USH2A):c.4009T>A (p.Phe1337Ile)
|
rs2034901487
|
|
NM_206933.4(USH2A):c.400A>G (p.Ser134Gly)
|
rs2102788382
|
|
NM_206933.4(USH2A):c.4014A>T (p.Arg1338Ser)
|
|
|
NM_206933.4(USH2A):c.401G>A (p.Ser134Asn)
|
rs1180218787
|
|
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu)
|
rs778505422
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.4028A>C (p.Asn1343Thr)
|
rs2034900753
|
|
NM_206933.4(USH2A):c.4033G>A (p.Ala1345Thr)
|
|
|
NM_206933.4(USH2A):c.4036G>A (p.Gly1346Arg)
|
rs1558311789
|
|
NM_206933.4(USH2A):c.404G>T (p.Cys135Phe)
|
rs878992902
|
|
NM_206933.4(USH2A):c.4052C>T (p.Ala1351Val)
|
rs764359055
|
|
NM_206933.4(USH2A):c.4073G>A (p.Gly1358Glu)
|
|
|
NM_206933.4(USH2A):c.4082-9C>A
|
rs771412392
|
|
NM_206933.4(USH2A):c.4085C>T (p.Pro1362Leu)
|
rs2102460775
|
|
NM_206933.4(USH2A):c.4097T>C (p.Ile1366Thr)
|
rs2102460721
|
|
NM_206933.4(USH2A):c.4100C>A (p.Pro1367His)
|
rs2034854003
|
|
NM_206933.4(USH2A):c.4100C>T (p.Pro1367Leu)
|
|
|
NM_206933.4(USH2A):c.4102C>A (p.Pro1368Thr)
|
rs755867377
|
|
NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser)
|
rs755867377
|
|
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
|
|
|
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.4136A>G (p.Asn1379Ser)
|
rs752569816
|
|
NM_206933.4(USH2A):c.4141T>A (p.Ser1381Thr)
|
|
|
NM_206933.4(USH2A):c.4141T>C (p.Ser1381Pro)
|
|
|
NM_206933.4(USH2A):c.4147G>A (p.Glu1383Lys)
|
|
|
NM_206933.4(USH2A):c.415CCT[1] (p.Pro140del)
|
rs773595155
|
|
NM_206933.4(USH2A):c.4169C>T (p.Thr1390Ile)
|
rs370430107
|
|
NM_206933.4(USH2A):c.4172G>A (p.Arg1391Lys)
|
rs1239652746
|
|
NM_206933.4(USH2A):c.4179A>C (p.Lys1393Asn)
|
rs2102460456
|
|
NM_206933.4(USH2A):c.418C>T (p.Pro140Ser)
|
|
|
NM_206933.4(USH2A):c.4223A>G (p.Gln1408Arg)
|
rs2102460311
|
|
NM_206933.4(USH2A):c.4231A>G (p.Ile1411Val)
|
|
|
NM_206933.4(USH2A):c.4231A>T (p.Ile1411Phe)
|
rs2034848829
|
|
NM_206933.4(USH2A):c.4237A>G (p.Met1413Val)
|
rs758401969
|
|
NM_206933.4(USH2A):c.4241C>T (p.Ala1414Val)
|
|
|
NM_206933.4(USH2A):c.4243T>C (p.Phe1415Leu)
|
rs2034848341
|
|
NM_206933.4(USH2A):c.4249C>G (p.Gln1417Glu)
|
|
|
NM_206933.4(USH2A):c.4251+1G>A
|
rs878853405
|
|
NM_206933.4(USH2A):c.4251+3A>G
|
rs1181655123
|
|
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)
|
rs2102460239
|
|
NM_206933.4(USH2A):c.4252-36CTTT[7]
|
rs372388546
|
|
NM_206933.4(USH2A):c.4252-5T>G
|
|
|
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.4288A>G (p.Thr1430Ala)
|
|
|
NM_206933.4(USH2A):c.4298G>A (p.Gly1433Glu)
|
|
|
NM_206933.4(USH2A):c.4303A>C (p.Lys1435Gln)
|
rs2102655149
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
NM_206933.4(USH2A):c.4313G>C (p.Arg1438Thr)
|
|
|
NM_206933.4(USH2A):c.4328C>A (p.Thr1443Asn)
|
|
|
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.4342A>C (p.Asn1448His)
|
|
|
NM_206933.4(USH2A):c.4348G>A (p.Val1450Ile)
|
|
|
NM_206933.4(USH2A):c.4348G>T (p.Val1450Phe)
|
|
|
NM_206933.4(USH2A):c.4349T>C (p.Val1450Ala)
|
rs886045951
|
|
NM_206933.4(USH2A):c.434T>A (p.Met145Lys)
|
rs2102788303
|
|
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)
|
rs1553312493
|
|
NM_206933.4(USH2A):c.4383A>G (p.Gln1461=)
|
rs978359064
|
|
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser)
|
rs2034687815
|
|
NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile)
|
rs2034687815
|
|
NM_206933.4(USH2A):c.4388T>C (p.Leu1463Ser)
|
rs2034687690
|
|
NM_206933.4(USH2A):c.4403C>G (p.Ala1468Gly)
|
rs2102641265
|
|
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr)
|
rs369357349
|
|
NM_206933.4(USH2A):c.442_443inv (p.Phe148Asn)
|
|
|
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile)
|
rs2034357761
|
|
NM_206933.4(USH2A):c.4492C>T (p.Pro1498Ser)
|
rs2102641149
|
|
NM_206933.4(USH2A):c.4495A>G (p.Ile1499Val)
|
|
|
NM_206933.4(USH2A):c.4498T>C (p.Tyr1500His)
|
|
|
NM_206933.4(USH2A):c.449T>C (p.Leu150Ser)
|
|
|
NM_206933.4(USH2A):c.4510A>G (p.Arg1504Gly)
|
|
|
NM_206933.4(USH2A):c.4521_4522insCAGTCA (p.Ser1507_Ser1508insGlnSer)
|
rs1553310736
|
|
NM_206933.4(USH2A):c.452C>G (p.Ala151Gly)
|
rs1374492311
|
|
NM_206933.4(USH2A):c.454G>C (p.Val152Leu)
|
|
|
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe)
|
rs770790346
|
|
NM_206933.4(USH2A):c.4568T>C (p.Ile1523Thr)
|
|
|
NM_206933.4(USH2A):c.4580A>G (p.Tyr1527Cys)
|
|
|
NM_206933.4(USH2A):c.4586A>G (p.Lys1529Arg)
|
rs41303255
|
|
NM_206933.4(USH2A):c.458G>T (p.Trp153Leu)
|
rs2039682218
|
|
NM_206933.4(USH2A):c.4620C>G (p.Asp1540Glu)
|
|
|
NM_206933.4(USH2A):c.4626T>C (p.Thr1542=)
|
|
|
NM_206933.4(USH2A):c.4627+1091T>C
|
rs886045945
|
|
NM_206933.4(USH2A):c.4627+1205_4627+1208del
|
rs751661540
|
|
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+3_4627+6del
|
|
|
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+5G>A
|
|
|
NM_206933.4(USH2A):c.4627+813C>T
|
rs192047831
|
|
NM_206933.4(USH2A):c.4627+945AT[3]
|
rs886045946
|
|
NM_206933.4(USH2A):c.4627+974T>C
|
rs2034329165
|
|
NM_206933.4(USH2A):c.4627G>A (p.Gly1543Ser)
|
rs2102640869
|
|
NM_206933.4(USH2A):c.4628-3C>G
|
rs2102572923
|
|
NM_206933.4(USH2A):c.4628-8C>A
|
rs377520995
|
|
NM_206933.4(USH2A):c.4628G>A (p.Gly1543Asp)
|
|
|
NM_206933.4(USH2A):c.4636G>C (p.Ala1546Pro)
|
rs958361741
|
|
NM_206933.4(USH2A):c.4646G>C (p.Arg1549Pro)
|
rs190170807
|
|
NM_206933.4(USH2A):c.4670T>C (p.Ile1557Thr)
|
rs2032460768
|
|
NM_206933.4(USH2A):c.4682C>T (p.Ala1561Val)
|
|
|
NM_206933.4(USH2A):c.4693A>G (p.Asn1565Asp)
|
|
|
NM_206933.4(USH2A):c.46G>A (p.Val16Ile)
|
|
|
NM_206933.4(USH2A):c.4714C>G (p.Leu1572Val)
|
rs111033333
|
|
NM_206933.4(USH2A):c.4730G>T (p.Gly1577Val)
|
rs2032458819
|
|
NM_206933.4(USH2A):c.4739A>G (p.Tyr1580Cys)
|
|
|
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe)
|
rs866592573
|
|
NM_206933.4(USH2A):c.4757A>G (p.Gln1586Arg)
|
rs2102572708
|
|
NM_206933.4(USH2A):c.4759G>C (p.Gly1587Arg)
|
|
|
NM_206933.4(USH2A):c.4762T>C (p.Ser1588Pro)
|
|
|
NM_206933.4(USH2A):c.4771G>A (p.Glu1591Lys)
|
rs2102565367
|
|
NM_206933.4(USH2A):c.4777A>G (p.Thr1593Ala)
|
|
|
NM_206933.4(USH2A):c.4784C>T (p.Thr1595Ile)
|
|
|
NM_206933.4(USH2A):c.4789G>T (p.Asp1597Tyr)
|
rs2032224268
|
|
NM_206933.4(USH2A):c.4790A>T (p.Asp1597Val)
|
|
|
NM_206933.4(USH2A):c.4804T>C (p.Tyr1602His)
|
|
|
NM_206933.4(USH2A):c.4812T>A (p.Asp1604Glu)
|
rs2032222263
|
|
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg)
|
rs2032221850
|
|
NM_206933.4(USH2A):c.4842G>C (p.Arg1614Ser)
|
rs2032220342
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val)
|
rs2032219588
|
|
NM_206933.4(USH2A):c.4873G>A (p.Gly1625Arg)
|
|
|
NM_206933.4(USH2A):c.4885+3A>G
|
|
|
NM_206933.4(USH2A):c.4885+4A>T
|
|
|
NM_206933.4(USH2A):c.4885G>A (p.Gly1629Ser)
|
rs895973483
|
|
NM_206933.4(USH2A):c.4886G>A (p.Gly1629Asp)
|
rs2032148917
|
|
NM_206933.4(USH2A):c.4903A>G (p.Asn1635Asp)
|
|
|
NM_206933.4(USH2A):c.4916T>A (p.Val1639Asp)
|
|
|
NM_206933.4(USH2A):c.4919T>C (p.Ile1640Thr)
|
rs2102563226
|
|
NM_206933.4(USH2A):c.4919T>G (p.Ile1640Ser)
|
|
|
NM_206933.4(USH2A):c.4922G>A (p.Gly1641Glu)
|
rs2102563222
|
|
NM_206933.4(USH2A):c.4934G>A (p.Gly1645Glu)
|
rs2032147421
|
|
NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro)
|
rs1558251712
|
|
NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu)
|
rs1558251710
|
|
NM_206933.4(USH2A):c.4946G>T (p.Gly1649Val)
|
|
|
NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala)
|
rs1558251708
|
|
NM_206933.4(USH2A):c.4955C>T (p.Pro1652Leu)
|
|
|
NM_206933.4(USH2A):c.4966A>G (p.Thr1656Ala)
|
rs531169600
|
|
NM_206933.4(USH2A):c.4969A>G (p.Ile1657Val)
|
rs2032145863
|
|
NM_206933.4(USH2A):c.4971C>G (p.Ile1657Met)
|
rs756177409
|
|
NM_206933.4(USH2A):c.4976G>A (p.Arg1659Lys)
|
|
|
NM_206933.4(USH2A):c.497A>C (p.Glu166Ala)
|
|
|
NM_206933.4(USH2A):c.497A>G (p.Glu166Gly)
|
|
|
NM_206933.4(USH2A):c.4987+5G>C
|
rs2032145172
|
|
NM_206933.4(USH2A):c.4988-5T>G
|
rs2102561305
|
|
NM_206933.4(USH2A):c.4996C>G (p.Gln1666Glu)
|
|
|
NM_206933.4(USH2A):c.4998A>T (p.Gln1666His)
|
rs2032076681
|
|
NM_206933.4(USH2A):c.5002G>C (p.Gly1668Arg)
|
|
|
NM_206933.4(USH2A):c.5003G>C (p.Gly1668Ala)
|
|
|
NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala)
|
rs750077857
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5026G>A (p.Val1676Ile)
|
rs768619553
|
|
NM_206933.4(USH2A):c.5030A>G (p.His1677Arg)
|
|
|
NM_206933.4(USH2A):c.503_504inv (p.Thr168Met)
|
|
|
NM_206933.4(USH2A):c.5047A>G (p.Asn1683Asp)
|
rs2102561202
|
|
NM_206933.4(USH2A):c.5057C>T (p.Ala1686Val)
|
|
|
NM_206933.4(USH2A):c.5069C>G (p.Pro1690Arg)
|
|
|
NM_206933.4(USH2A):c.506T>C (p.Val169Ala)
|
rs2102784093
|
|
NM_206933.4(USH2A):c.5074G>T (p.Asp1692Tyr)
|
rs1571948108
|
|
NM_206933.4(USH2A):c.5075A>C (p.Asp1692Ala)
|
|
|
NM_206933.4(USH2A):c.5098A>T (p.Ile1700Phe)
|
|
|
NM_206933.4(USH2A):c.5103C>A (p.Asn1701Lys)
|
rs750028425
|
|
NM_206933.4(USH2A):c.5113A>T (p.Ser1705Cys)
|
|
|
NM_206933.4(USH2A):c.5120A>G (p.Glu1707Gly)
|
rs2032069724
|
|
NM_206933.4(USH2A):c.5120A>T (p.Glu1707Val)
|
|
|
NM_206933.4(USH2A):c.5122G>A (p.Gly1708Arg)
|
|
|
NM_206933.4(USH2A):c.5123G>C (p.Gly1708Ala)
|
rs2032069450
|
|
NM_206933.4(USH2A):c.5162G>C (p.Gly1721Ala)
|
rs2032067781
|
|
NM_206933.4(USH2A):c.5167+20A>G
|
rs756960523
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
NM_206933.4(USH2A):c.5168-9T>G
|
|
|
NM_206933.4(USH2A):c.5170T>G (p.Phe1724Val)
|
rs1381827718
|
|
NM_206933.4(USH2A):c.5192T>C (p.Met1731Thr)
|
rs2032020244
|
|
NM_206933.4(USH2A):c.5195T>C (p.Phe1732Ser)
|
rs2102559774
|
|
NM_206933.4(USH2A):c.5222C>T (p.Ser1741Phe)
|
rs945582459
|
|
NM_206933.4(USH2A):c.5227A>C (p.Lys1743Gln)
|
|
|
NM_206933.4(USH2A):c.5249A>G (p.Asn1750Ser)
|
|
|
NM_206933.4(USH2A):c.5252G>A (p.Gly1751Glu)
|
|
|
NM_206933.4(USH2A):c.5254T>G (p.Leu1752Val)
|
rs727503728
|
|
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp)
|
rs1469348824
|
|
NM_206933.4(USH2A):c.5270A>C (p.Tyr1757Ser)
|
|
|
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
|
|
|
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu)
|
rs2102559662
|
|
NM_206933.4(USH2A):c.5284C>T (p.Pro1762Ser)
|
rs375496315
|
|
NM_206933.4(USH2A):c.5294T>C (p.Leu1765Pro)
|
rs2102559645
|
|
NM_206933.4(USH2A):c.5298+16T>G
|
|
|
NM_206933.4(USH2A):c.5298+3A>G
|
rs775992706
|
|
NM_206933.4(USH2A):c.5299A>G (p.Met1767Val)
|
rs2031826279
|
|
NM_206933.4(USH2A):c.5306T>C (p.Leu1769Pro)
|
rs2102554586
|
|
NM_206933.4(USH2A):c.530T>G (p.Leu177Arg)
|
|
|
NM_206933.4(USH2A):c.5320T>A (p.Leu1774Met)
|
rs2102554556
|
|
NM_206933.4(USH2A):c.5324C>A (p.Thr1775Asn)
|
|
|
NM_206933.4(USH2A):c.5353A>C (p.Thr1785Pro)
|
|
|
NM_206933.4(USH2A):c.5363A>T (p.Asp1788Val)
|
rs768237382
|
|
NM_206933.4(USH2A):c.5365C>A (p.Leu1789Ile)
|
|
|
NM_206933.4(USH2A):c.5390A>G (p.Asn1797Ser)
|
rs2031822338
|
|
NM_206933.4(USH2A):c.5446G>T (p.Val1816Leu)
|
rs2031819704
|
|
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly)
|
rs777011507
|
|
NM_206933.4(USH2A):c.5454_5455insAGAAATGGA (p.Gly1818_Leu1819insArgAsnGly)
|
rs1553299065
|
|
NM_206933.4(USH2A):c.5456T>C (p.Leu1819Pro)
|
|
|
NM_206933.4(USH2A):c.5459T>G (p.Met1820Arg)
|
|
|
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu)
|
rs748792761
|
|
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
|
|
|
NM_206933.4(USH2A):c.5494G>T (p.Val1832Leu)
|
|
|
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.5516T>C (p.Val1839Ala)
|
rs886039867
|
|
NM_206933.4(USH2A):c.551C>A (p.Thr184Asn)
|
rs2102783958
|
|
NM_206933.4(USH2A):c.551C>G (p.Thr184Ser)
|
|
|
NM_206933.4(USH2A):c.5524A>G (p.Ile1842Val)
|
|
|
NM_206933.4(USH2A):c.5532G>T (p.Gln1844His)
|
|
|
NM_206933.4(USH2A):c.5549A>G (p.Tyr1850Cys)
|
rs2031813684
|
|
NM_206933.4(USH2A):c.5561_5572+7dup
|
rs1553299014
|
|
NM_206933.4(USH2A):c.5565G>T (p.Leu1855Phe)
|
rs2102554164
|
|
NM_206933.4(USH2A):c.5572+5G>A
|
|
|
NM_206933.4(USH2A):c.5572G>C (p.Gly1858Arg)
|
|
|
NM_206933.4(USH2A):c.5573G>A (p.Gly1858Asp)
|
|
|
NM_206933.4(USH2A):c.5578G>A (p.Gly1860Ser)
|
|
|
NM_206933.4(USH2A):c.5579G>A (p.Gly1860Asp)
|
rs2031626504
|
|
NM_206933.4(USH2A):c.5588T>C (p.Met1863Thr)
|
|
|
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val)
|
rs760543320
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.560A>C (p.Tyr187Ser)
|
rs2102783945
|
|
NM_206933.4(USH2A):c.5620G>A (p.Val1874Ile)
|
|
|
NM_206933.4(USH2A):c.5624A>T (p.Asn1875Ile)
|
|
|
NM_206933.4(USH2A):c.5629G>T (p.Ala1877Ser)
|
|
|
NM_206933.4(USH2A):c.562T>C (p.Tyr188His)
|
|
|
NM_206933.4(USH2A):c.5630C>A (p.Ala1877Glu)
|
|
|
NM_206933.4(USH2A):c.5644G>A (p.Gly1882Ser)
|
|
|
NM_206933.4(USH2A):c.5645G>A (p.Gly1882Asp)
|
rs2031621745
|
|
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
|
|
|
NM_206933.4(USH2A):c.5664G>A (p.Leu1888=)
|
rs2102549080
|
|
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
|
rs775803174
|
|
NM_206933.4(USH2A):c.5668G>A (p.Gly1890Arg)
|
rs2102549065
|
|
NM_206933.4(USH2A):c.566G>A (p.Arg189His)
|
rs747767544
|
|
NM_206933.4(USH2A):c.566G>T (p.Arg189Leu)
|
rs747767544
|
|
NM_206933.4(USH2A):c.5680A>G (p.Thr1894Ala)
|
rs2102549045
|
|
NM_206933.4(USH2A):c.5681C>G (p.Thr1894Ser)
|
|
|
NM_206933.4(USH2A):c.568A>G (p.Thr190Ala)
|
|
|
NM_206933.4(USH2A):c.5692G>A (p.Val1898Ile)
|
rs758808748
|
|
NM_206933.4(USH2A):c.5693T>C (p.Val1898Ala)
|
|
|
NM_206933.4(USH2A):c.5698T>C (p.Cys1900Arg)
|
rs201026468
|
|
NM_206933.4(USH2A):c.5699G>C (p.Cys1900Ser)
|
|
|
NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser)
|
rs1162070622
|
|
NM_206933.4(USH2A):c.5722G>A (p.Val1908Ile)
|
|
|
NM_206933.4(USH2A):c.5726A>T (p.Tyr1909Phe)
|
rs761586978
|
|
NM_206933.4(USH2A):c.5729A>G (p.Gln1910Arg)
|
|
|
NM_206933.4(USH2A):c.5730G>C (p.Gln1910His)
|
|
|
NM_206933.4(USH2A):c.5739G>T (p.Glu1913Asp)
|
rs41277216
|
|
NM_206933.4(USH2A):c.5767C>G (p.Pro1923Ala)
|
|
|
NM_206933.4(USH2A):c.5768C>T (p.Pro1923Leu)
|
rs2102548904
|
|
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=)
|
rs747419030
|
|
NM_206933.4(USH2A):c.5776+1del
|
|
|
NM_206933.4(USH2A):c.5776+9G>T
|
rs1405078779
|
|
NM_206933.4(USH2A):c.5779T>G (p.Tyr1927Asp)
|
|
|
NM_206933.4(USH2A):c.577G>A (p.Gly193Ser)
|
rs1472492116
|
|
NM_206933.4(USH2A):c.577G>C (p.Gly193Arg)
|
rs1472492116
|
|
NM_206933.4(USH2A):c.577G>T (p.Gly193Cys)
|
rs1472492116
|
|
NM_206933.4(USH2A):c.5784G>A (p.Leu1928=)
|
|
|
NM_206933.4(USH2A):c.5795T>C (p.Ile1932Thr)
|
|
|
NM_206933.4(USH2A):c.5797G>A (p.Ala1933Thr)
|
|
|
NM_206933.4(USH2A):c.5804A>G (p.His1935Arg)
|
|
|
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.5825G>A (p.Ser1942Asn)
|
|
|
NM_206933.4(USH2A):c.5837G>A (p.Arg1946Gln)
|
|
|
NM_206933.4(USH2A):c.5837G>T (p.Arg1946Leu)
|
rs193921072
|
|
NM_206933.4(USH2A):c.5842C>A (p.Arg1948Ser)
|
|
|
NM_206933.4(USH2A):c.5843G>A (p.Arg1948His)
|
|
|
NM_206933.4(USH2A):c.5845A>G (p.Thr1949Ala)
|
|
|
NM_206933.4(USH2A):c.5848A>G (p.Thr1950Ala)
|
rs2102548566
|
|
NM_206933.4(USH2A):c.5856A>G (p.Ala1952=)
|
rs772046465
|
|
NM_206933.4(USH2A):c.5876C>T (p.Thr1959Ile)
|
|
|
NM_206933.4(USH2A):c.5879C>T (p.Pro1960Leu)
|
rs993560288
|
|
NM_206933.4(USH2A):c.5891G>A (p.Arg1964His)
|
rs149465057
|
|
NM_206933.4(USH2A):c.5921C>T (p.Thr1974Ile)
|
rs1558241630
|
|
NM_206933.4(USH2A):c.5929G>A (p.Glu1977Lys)
|
rs1453112061
|
|
NM_206933.4(USH2A):c.5933C>A (p.Pro1978His)
|
rs2031513346
|
|
NM_206933.4(USH2A):c.5935G>A (p.Val1979Ile)
|
|
|
NM_206933.4(USH2A):c.5945G>T (p.Gly1982Val)
|
|
|
NM_206933.4(USH2A):c.5953G>C (p.Glu1985Gln)
|
rs150143291
|
|
NM_206933.4(USH2A):c.5956A>G (p.Lys1986Glu)
|
|
|
NM_206933.4(USH2A):c.5957A>G (p.Lys1986Arg)
|
rs2102546147
|
|
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
NM_206933.4(USH2A):c.5962A>G (p.Ile1988Val)
|
|
|
NM_206933.4(USH2A):c.596A>G (p.Lys199Arg)
|
rs2102783823
|
|
NM_206933.4(USH2A):c.5977A>T (p.Ser1993Cys)
|
rs758041992
|
|
NM_206933.4(USH2A):c.598G>A (p.Val200Ile)
|
rs781022362
|
|
NM_206933.4(USH2A):c.598G>C (p.Val200Leu)
|
rs781022362
|
|
NM_206933.4(USH2A):c.5990C>T (p.Thr1997Ile)
|
rs2031510445
|
|
NM_206933.4(USH2A):c.5998C>T (p.Pro2000Ser)
|
|
|
NM_206933.4(USH2A):c.5A>G (p.Asn2Ser)
|
rs772861429
|
|
NM_206933.4(USH2A):c.5_6delinsTA (p.Asn2Ile)
|
|
|
NM_206933.4(USH2A):c.6001C>G (p.Arg2001Gly)
|
|
|
NM_206933.4(USH2A):c.6002G>A (p.Arg2001His)
|
|
|
NM_206933.4(USH2A):c.602T>C (p.Met201Thr)
|
rs2102783802
|
|
NM_206933.4(USH2A):c.6038G>T (p.Ser2013Ile)
|
rs2102546025
|
|
NM_206933.4(USH2A):c.6042C>A (p.Asn2014Lys)
|
|
|
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
|
|
|
NM_206933.4(USH2A):c.6059C>G (p.Thr2020Arg)
|
|
|
NM_206933.4(USH2A):c.607C>G (p.Leu203Val)
|
|
|
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
|
|
|
NM_206933.4(USH2A):c.6094C>T (p.Leu2032=)
|
rs1385829693
|
|
NM_206933.4(USH2A):c.60G>C (p.Leu20Phe)
|
rs767611127
|
|
NM_206933.4(USH2A):c.6100G>T (p.Ala2034Ser)
|
rs2030621478
|
|
NM_206933.4(USH2A):c.6104G>A (p.Cys2035Tyr)
|
rs878853403
|
|
NM_206933.4(USH2A):c.6118T>C (p.Cys2040Arg)
|
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu)
|
rs111033514
|
|
NM_206933.4(USH2A):c.6152C>T (p.Thr2051Ile)
|
|
|
NM_206933.4(USH2A):c.6157C>G (p.Gln2053Glu)
|
|
|
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.6175G>A (p.Val2059Ile)
|
rs767444125
|
|
NM_206933.4(USH2A):c.6203C>T (p.Pro2068Leu)
|
|
|
NM_206933.4(USH2A):c.6225G>C (p.Trp2075Cys)
|
rs1553294134
|
|
NM_206933.4(USH2A):c.6225_6227del (p.Trp2075_Asn2076delinsCys)
|
|
|
NM_206933.4(USH2A):c.6233C>A (p.Pro2078His)
|
rs150230450
|
|
NM_206933.4(USH2A):c.6241G>A (p.Ala2081Thr)
|
rs1558229482
|
|
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
|
|
|
NM_206933.4(USH2A):c.6257C>T (p.Thr2086Ile)
|
|
|
NM_206933.4(USH2A):c.6266G>A (p.Cys2089Tyr)
|
rs2102524858
|
|
NM_206933.4(USH2A):c.6271T>A (p.Tyr2091Asn)
|
|
|
NM_206933.4(USH2A):c.6293A>G (p.Tyr2098Cys)
|
rs2030525490
|
|
NM_206933.4(USH2A):c.6313T>C (p.Tyr2105His)
|
|
|
NM_206933.4(USH2A):c.6325+4A>G
|
|
|
NM_206933.4(USH2A):c.6326-1G>A
|
rs878853411
|
|
NM_206933.4(USH2A):c.633G>T (p.Trp211Cys)
|
rs2102783738
|
|
NM_206933.4(USH2A):c.6367T>C (p.Cys2123Arg)
|
rs1668244820
|
|
NM_206933.4(USH2A):c.6367T>G (p.Cys2123Gly)
|
rs1668244820
|
|
NM_206933.4(USH2A):c.6370_6381del (p.Thr2124_Gly2127del)
|
rs1668244362
|
|
NM_206933.4(USH2A):c.6371C>A (p.Thr2124Lys)
|
rs1668244656
|
|
NM_206933.4(USH2A):c.6371C>T (p.Thr2124Ile)
|
|
|
NM_206933.4(USH2A):c.6377T>C (p.Val2126Ala)
|
rs2102483279
|
|
NM_206933.4(USH2A):c.637C>T (p.His213Tyr)
|
rs2039613657
|
|
NM_206933.4(USH2A):c.6383G>A (p.Cys2128Tyr)
|
|
|
NM_206933.4(USH2A):c.6388A>T (p.Asn2130Tyr)
|
rs1668243915
|
|
NM_206933.4(USH2A):c.6395C>T (p.Ser2132Phe)
|
|
|
NM_206933.4(USH2A):c.6436G>T (p.Val2146Leu)
|
rs766466542
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.644G>C (p.Ser215Thr)
|
rs1458851498
|
|
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)
|
rs397518025
|
|
NM_206933.4(USH2A):c.650A>C (p.Gln217Pro)
|
|
|
NM_206933.4(USH2A):c.651+15A>G
|
rs765252898
|
|
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg)
|
rs1668203744
|
|
NM_206933.4(USH2A):c.6512G>A (p.Gly2171Glu)
|
|
|
NM_206933.4(USH2A):c.6536A>G (p.Tyr2179Cys)
|
rs1668202592
|
|
NM_206933.4(USH2A):c.6538A>G (p.Met2180Val)
|
rs1433870940
|
|
NM_206933.4(USH2A):c.6554A>G (p.His2185Arg)
|
rs1064797135
|
|
NM_206933.4(USH2A):c.6557A>C (p.Asp2186Ala)
|
rs867309717
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|
NM_206933.4(USH2A):c.656A>T (p.His219Leu)
|
|
|
NM_206933.4(USH2A):c.6579C>G (p.Ile2193Met)
|
|
|
NM_206933.4(USH2A):c.6581A>G (p.Tyr2194Cys)
|
rs1553286786
|
|
NM_206933.4(USH2A):c.6584A>G (p.Asn2195Ser)
|
|
|
NM_206933.4(USH2A):c.6598T>C (p.Phe2200Leu)
|
|
|
NM_206933.4(USH2A):c.659A>G (p.Gln220Arg)
|
rs1302699517
|
|
NM_206933.4(USH2A):c.6608A>G (p.His2203Arg)
|
|
|
NM_206933.4(USH2A):c.6628C>T (p.Pro2210Ser)
|
|
|
NM_206933.4(USH2A):c.6632G>T (p.Gly2211Val)
|
|
|
NM_206933.4(USH2A):c.6643C>G (p.Leu2215Val)
|
|
|
NM_206933.4(USH2A):c.6646A>C (p.Ile2216Leu)
|
|
|
NM_206933.4(USH2A):c.6662G>A (p.Cys2221Tyr)
|
|
|
NM_206933.4(USH2A):c.6677G>A (p.Cys2226Tyr)
|
rs562492049
|
|
NM_206933.4(USH2A):c.6686G>A (p.Ser2229Asn)
|
|
|
NM_206933.4(USH2A):c.6687T>G (p.Ser2229Arg)
|
rs926930916
|
|
NM_206933.4(USH2A):c.6690G>C (p.Glu2230Asp)
|
|
|
NM_206933.4(USH2A):c.6695G>A (p.Ser2232Asn)
|
|
|
NM_206933.4(USH2A):c.6701C>A (p.Ala2234Asp)
|
rs1249318716
|
|
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.6711C>G (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)
|
rs201526850
|
|
NM_206933.4(USH2A):c.672C>A (p.Ser224Arg)
|
rs1571744237
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6737C>A (p.Ala2246Asp)
|
|
|
NM_206933.4(USH2A):c.6741C>T (p.Pro2247=)
|
rs766287712
|
|
NM_206933.4(USH2A):c.6749A>G (p.His2250Arg)
|
|
|
NM_206933.4(USH2A):c.6752C>T (p.Ser2251Leu)
|
rs1302722012
|
|
NM_206933.4(USH2A):c.6765C>A (p.Asp2255Glu)
|
|
|
NM_206933.4(USH2A):c.6767C>T (p.Ser2256Phe)
|
|
|
NM_206933.4(USH2A):c.6772A>G (p.Asn2258Asp)
|
rs2102476660
|
|
NM_206933.4(USH2A):c.6785C>G (p.Thr2262Ser)
|
rs2102476644
|
|
NM_206933.4(USH2A):c.6788A>C (p.Glu2263Ala)
|
|
|
NM_206933.4(USH2A):c.6790C>G (p.Pro2264Ala)
|
|
|
NM_206933.4(USH2A):c.6805+6T>A
|
rs746355792
|
|
NM_206933.4(USH2A):c.6805G>A (p.Gly2269Ser)
|
rs1668037260
|
|
NM_206933.4(USH2A):c.6805G>T (p.Gly2269Cys)
|
rs1668037260
|
|
NM_206933.4(USH2A):c.6806-2A>C
|
|
|
NM_206933.4(USH2A):c.6806-31_6806-20del
|
|
|
NM_206933.4(USH2A):c.6806-3C>A
|
|
|
NM_206933.4(USH2A):c.6806G>C (p.Gly2269Ala)
|
rs1376970919
|
|
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)
|
rs1421761057
|
|
NM_206933.4(USH2A):c.6839G>A (p.Gly2280Asp)
|
rs200437181
|
|
NM_206933.4(USH2A):c.683A>G (p.Asn228Ser)
|
|
|
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys)
|
rs727503722
|
|
NM_206933.4(USH2A):c.6877_6878delinsTT (p.Ala2293Phe)
|
rs2102458427
|
|
NM_206933.4(USH2A):c.6887T>A (p.Phe2296Tyr)
|
|
|
NM_206933.4(USH2A):c.688G>T (p.Val230Leu)
|
|
|
NM_206933.4(USH2A):c.6895_6896delinsGA (p.Trp2299Glu)
|
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6905A>C (p.His2302Pro)
|
rs1208209655
|
|
NM_206933.4(USH2A):c.6923C>A (p.Ala2308Glu)
|
|
|
NM_206933.4(USH2A):c.6928A>G (p.Thr2310Ala)
|
|
|
NM_206933.4(USH2A):c.6932C>T (p.Ala2311Val)
|
rs1273975195
|
|
NM_206933.4(USH2A):c.6934A>C (p.Lys2312Gln)
|
rs1393581129
|
|
NM_206933.4(USH2A):c.6958-3C>T
|
|
|
NM_206933.4(USH2A):c.6963A>C (p.Glu2321Asp)
|
rs1667319307
|
|
NM_206933.4(USH2A):c.6968G>C (p.Arg2323Pro)
|
rs772014718
|
|
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile)
|
rs1667318951
|
|
NM_206933.4(USH2A):c.6986C>T (p.Pro2329Leu)
|
|
|
NM_206933.4(USH2A):c.7025C>T (p.Ser2342Phe)
|
rs1187620613
|
|
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
|
|
|
NM_206933.4(USH2A):c.7054C>T (p.Pro2352Ser)
|
|
|
NM_206933.4(USH2A):c.7060C>A (p.Arg2354Ser)
|
rs111033508
|
|
NM_206933.4(USH2A):c.7061G>C (p.Arg2354Pro)
|
rs201386640
|
|
NM_206933.4(USH2A):c.7064C>T (p.Pro2355Leu)
|
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
NM_206933.4(USH2A):c.7073T>C (p.Leu2358Pro)
|
rs1315033828
|
|
NM_206933.4(USH2A):c.707C>A (p.Pro236His)
|
|
|
NM_206933.4(USH2A):c.7087G>A (p.Val2363Ile)
|
|
|
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu)
|
rs1017425051
|
|
NM_206933.4(USH2A):c.7121-5A>G
|
|
|
NM_206933.4(USH2A):c.7123G>A (p.Gly2375Ser)
|
rs1381251611
|
|
NM_206933.4(USH2A):c.7124G>T (p.Gly2375Val)
|
|
|
NM_206933.4(USH2A):c.713A>G (p.Asn238Ser)
|
|
|
NM_206933.4(USH2A):c.7151C>G (p.Thr2384Arg)
|
|
|
NM_206933.4(USH2A):c.7156G>A (p.Val2386Ile)
|
|
|
NM_206933.4(USH2A):c.7156G>C (p.Val2386Leu)
|
rs199825458
|
|
NM_206933.4(USH2A):c.7171G>A (p.Glu2391Lys)
|
|
|
NM_206933.4(USH2A):c.7174G>A (p.Glu2392Lys)
|
|
|
NM_206933.4(USH2A):c.7188G>T (p.Trp2396Cys)
|
rs2102499727
|
|
NM_206933.4(USH2A):c.7198G>A (p.Asp2400Asn)
|
|
|
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.7232A>C (p.Gln2411Pro)
|
|
|
NM_206933.4(USH2A):c.7233A>G (p.Gln2411=)
|
|
|
NM_206933.4(USH2A):c.7234G>A (p.Val2412Met)
|
|
|
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr)
|
rs780840434
|
|
NM_206933.4(USH2A):c.7238A>G (p.Asn2413Ser)
|
|
|
NM_206933.4(USH2A):c.7248T>G (p.Asn2416Lys)
|
|
|
NM_206933.4(USH2A):c.725T>C (p.Leu242Pro)
|
rs1263555097
|
|
NM_206933.4(USH2A):c.7275_7276delinsAG (p.Ile2426Val)
|
|
|
NM_206933.4(USH2A):c.7276A>C (p.Ile2426Leu)
|
|
|
NM_206933.4(USH2A):c.7280C>A (p.Thr2427Lys)
|
rs1666445042
|
|
NM_206933.4(USH2A):c.7292C>A (p.Pro2431His)
|
|
|
NM_206933.4(USH2A):c.7297G>A (p.Gly2433Arg)
|
rs1281049882
|
|
NM_206933.4(USH2A):c.7303C>A (p.Pro2435Thr)
|
rs727503720
|
|
NM_206933.4(USH2A):c.731G>A (p.Gly244Asp)
|
rs2102708519
|
|
NM_206933.4(USH2A):c.7321C>G (p.Pro2441Ala)
|
|
|
NM_206933.4(USH2A):c.7327C>G (p.Leu2443Val)
|
|
|
NM_206933.4(USH2A):c.7328T>G (p.Leu2443Arg)
|
|
|
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.736A>G (p.Ile246Val)
|
rs746975879
|
|
NM_206933.4(USH2A):c.736A>T (p.Ile246Phe)
|
|
|
NM_206933.4(USH2A):c.7397C>G (p.Ser2466Cys)
|
rs1665475399
|
|
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe)
|
rs1665475399
|
|
NM_206933.4(USH2A):c.7400C>T (p.Pro2467Leu)
|
rs2102470160
|
|
NM_206933.4(USH2A):c.7412T>G (p.Leu2471Arg)
|
rs1290644032
|
|
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro)
|
rs2102470142
|
|
NM_206933.4(USH2A):c.7416G>C (p.Gln2472His)
|
|
|
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.7448T>G (p.Leu2483Arg)
|
|
|
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp)
|
rs397518031
|
|
NM_206933.4(USH2A):c.7454T>C (p.Leu2485Ser)
|
rs2102469649
|
|
NM_206933.4(USH2A):c.745T>G (p.Phe249Val)
|
|
|
NM_206933.4(USH2A):c.7468_7470del (p.Ser2490del)
|
rs755325541
|
|
NM_206933.4(USH2A):c.7471G>T (p.Ala2491Ser)
|
|
|
NM_206933.4(USH2A):c.7472C>A (p.Ala2491Glu)
|
|
|
NM_206933.4(USH2A):c.7472C>T (p.Ala2491Val)
|
|
|
NM_206933.4(USH2A):c.7492A>T (p.Ser2498Cys)
|
rs754310768
|
|
NM_206933.4(USH2A):c.7499T>G (p.Leu2500Arg)
|
|
|
NM_206933.4(USH2A):c.7502A>G (p.Gln2501Arg)
|
|
|
NM_206933.4(USH2A):c.7505C>T (p.Pro2502Leu)
|
|
|
NM_206933.4(USH2A):c.7520T>C (p.Met2507Thr)
|
rs745836040
|
|
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
|
|
|
NM_206933.4(USH2A):c.7527G>T (p.Arg2509=)
|
rs575939496
|
|
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.757A>G (p.Thr253Ala)
|
|
|
NM_206933.4(USH2A):c.7585G>A (p.Ala2529Thr)
|
|
|
NM_206933.4(USH2A):c.758C>T (p.Thr253Ile)
|
|
|
NM_206933.4(USH2A):c.7595-2140G>C
|
rs1665201229
|
|
NM_206933.4(USH2A):c.7597C>T (p.Pro2533Ser)
|
|
|
NM_206933.4(USH2A):c.7609G>A (p.Val2537Ile)
|
|
|
NM_206933.4(USH2A):c.7622T>C (p.Leu2541Pro)
|
|
|
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu)
|
rs774559456
|
|
NM_206933.4(USH2A):c.763C>A (p.Gln255Lys)
|
rs2038566435
|
|
NM_206933.4(USH2A):c.7642A>G (p.Met2548Val)
|
rs2102460660
|
|
NM_206933.4(USH2A):c.764A>C (p.Gln255Pro)
|
rs2038566369
|
|
NM_206933.4(USH2A):c.7670G>A (p.Arg2557Lys)
|
|
|
NM_206933.4(USH2A):c.7673A>T (p.Lys2558Ile)
|
|
|
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe)
|
rs397518033
|
|
NM_206933.4(USH2A):c.7697A>G (p.Tyr2566Cys)
|
|
|
NM_206933.4(USH2A):c.7713_7724del (p.Gly2572_Tyr2575del)
|
|
|
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His)
|
rs189748047
|
|
NM_206933.4(USH2A):c.7729A>G (p.Arg2577Gly)
|
|
|
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp)
|
rs747492773
|
|
NM_206933.4(USH2A):c.7771C>T (p.His2591Tyr)
|
rs758792302
|
|
NM_206933.4(USH2A):c.7774C>G (p.Pro2592Ala)
|
rs1665138203
|
|
NM_206933.4(USH2A):c.7804G>C (p.Ala2602Pro)
|
rs1253043440
|
|
NM_206933.4(USH2A):c.7805C>A (p.Ala2602Asp)
|
|
|
NM_206933.4(USH2A):c.7805C>G (p.Ala2602Gly)
|
|
|
NM_206933.4(USH2A):c.7808G>T (p.Cys2603Phe)
|
|
|
NM_206933.4(USH2A):c.780A>G (p.Leu260=)
|
|
|
NM_206933.4(USH2A):c.7816A>G (p.Lys2606Glu)
|
rs2102460448
|
|
NM_206933.4(USH2A):c.7847C>A (p.Thr2616Asn)
|
|
|
NM_206933.4(USH2A):c.785-15T>G
|
|
|
NM_206933.4(USH2A):c.785-3C>G
|
rs2037762626
|
|
NM_206933.4(USH2A):c.785-5T>A
|
rs2037762657
|
|
NM_206933.4(USH2A):c.7852T>C (p.Trp2618Arg)
|
rs747547953
|
|
NM_206933.4(USH2A):c.7861C>G (p.Pro2621Ala)
|
|
|
NM_206933.4(USH2A):c.7861C>T (p.Pro2621Ser)
|
|
|
NM_206933.4(USH2A):c.7867G>T (p.Ala2623Ser)
|
|
|
NM_206933.4(USH2A):c.7870C>T (p.Pro2624Ser)
|
|
|
NM_206933.4(USH2A):c.7892A>G (p.Glu2631Gly)
|
rs1175968972
|
|
NM_206933.4(USH2A):c.7907C>T (p.Thr2636Ile)
|
rs764922996
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.7926A>G (p.Ile2642Met)
|
rs1338661803
|
|
NM_206933.4(USH2A):c.7932G>C (p.Trp2644Cys)
|
|
|
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser)
|
rs1414367127
|
|
NM_206933.4(USH2A):c.7949C>G (p.Pro2650Arg)
|
|
|
NM_206933.4(USH2A):c.7949C>T (p.Pro2650Leu)
|
rs774819705
|
|
NM_206933.4(USH2A):c.7956C>T (p.Gly2652=)
|
rs1041425619
|
|
NM_206933.4(USH2A):c.7972A>G (p.Thr2658Ala)
|
|
|
NM_206933.4(USH2A):c.7973C>T (p.Thr2658Ile)
|
|
|
NM_206933.4(USH2A):c.8003A>G (p.Glu2668Gly)
|
rs267598377
|
|
NM_206933.4(USH2A):c.8009C>T (p.Thr2670Ile)
|
|
|
NM_206933.4(USH2A):c.8029A>G (p.Arg2677Gly)
|
|
|
NM_206933.4(USH2A):c.8053G>A (p.Asp2685Asn)
|
rs2102460134
|
|
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.8075C>T (p.Pro2692Leu)
|
|
|
NM_206933.4(USH2A):c.8077T>C (p.Trp2693Arg)
|
rs1310882905
|
|
NM_206933.4(USH2A):c.8085A>C (p.Lys2695Asn)
|
|
|
NM_206933.4(USH2A):c.8093A>T (p.Tyr2698Phe)
|
|
|
NM_206933.4(USH2A):c.8096G>C (p.Arg2699Pro)
|
rs748137104
|
|
NM_206933.4(USH2A):c.8105T>G (p.Met2702Arg)
|
|
|
NM_206933.4(USH2A):c.8116C>T (p.His2706Tyr)
|
rs1237514743
|
|
NM_206933.4(USH2A):c.8118T>G (p.His2706Gln)
|
|
|
NM_206933.4(USH2A):c.8125A>C (p.Thr2709Pro)
|
|
|
NM_206933.4(USH2A):c.8132G>A (p.Ser2711Asn)
|
|
|
NM_206933.4(USH2A):c.8168G>T (p.Arg2723Leu)
|
|
|
NM_206933.4(USH2A):c.8186C>G (p.Pro2729Arg)
|
|
|
NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser)
|
rs768532694
|
|
NM_206933.4(USH2A):c.8189C>A (p.Pro2730His)
|
rs1665121843
|
|
NM_206933.4(USH2A):c.8216C>T (p.Ala2739Val)
|
rs2102459901
|
|
NM_206933.4(USH2A):c.8224-11T>A
|
|
|
NM_206933.4(USH2A):c.8224-6T>G
|
rs1664846600
|
|
NM_206933.4(USH2A):c.8233A>C (p.Lys2745Gln)
|
rs2102452018
|
|
NM_206933.4(USH2A):c.8262_8264del (p.Leu2755del)
|
rs1553272199
|
|
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
|
|
|
NM_206933.4(USH2A):c.8276T>C (p.Ile2759Thr)
|
|
|
NM_206933.4(USH2A):c.8282T>G (p.Met2761Arg)
|
rs1251533890
|
|
NM_206933.4(USH2A):c.8283G>C (p.Met2761Ile)
|
rs774015174
|
|
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)
|
rs1188281491
|
|
NM_206933.4(USH2A):c.8290C>A (p.Pro2764Thr)
|
|
|
NM_206933.4(USH2A):c.8298C>G (p.Ile2766Met)
|
rs2102451906
|
|
NM_206933.4(USH2A):c.829C>G (p.Gln277Glu)
|
rs2102658805
|
|
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe)
|
rs1413784848
|
|
NM_206933.4(USH2A):c.8324T>A (p.Val2775Glu)
|
rs767155952
|
|
NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly)
|
|
|
NM_206933.4(USH2A):c.8339T>A (p.Val2780Asp)
|
|
|
NM_206933.4(USH2A):c.8341A>G (p.Thr2781Ala)
|
|
|
NM_206933.4(USH2A):c.8342C>G (p.Thr2781Ser)
|
|
|
NM_206933.4(USH2A):c.8344C>T (p.His2782Tyr)
|
|
|
NM_206933.4(USH2A):c.835G>A (p.Ala279Thr)
|
rs764553154
|
|
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu)
|
rs2102658782
|
|
NM_206933.4(USH2A):c.836C>T (p.Ala279Val)
|
rs2102658782
|
|
NM_206933.4(USH2A):c.8371G>C (p.Val2791Leu)
|
|
|
NM_206933.4(USH2A):c.8372T>C (p.Val2791Ala)
|
|
|
NM_206933.4(USH2A):c.8378T>C (p.Ile2793Thr)
|
|
|
NM_206933.4(USH2A):c.8390C>T (p.Ser2797Leu)
|
rs756866344
|
|
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala)
|
rs886044303
|
|
NM_206933.4(USH2A):c.8395G>T (p.Gly2799Cys)
|
rs1026326311
|
|
NM_206933.4(USH2A):c.841A>C (p.Thr281Pro)
|
rs2037760472
|
|
NM_206933.4(USH2A):c.8452C>T (p.Pro2818Ser)
|
rs1470809474
|
|
NM_206933.4(USH2A):c.8464C>G (p.Gln2822Glu)
|
rs1401769592
|
|
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly)
|
rs2102658767
|
|
NM_206933.4(USH2A):c.849-4A>G
|
rs765189933
|
|
NM_206933.4(USH2A):c.849-9C>G
|
|
|
NM_206933.4(USH2A):c.8495T>C (p.Leu2832Pro)
|
|
|
NM_206933.4(USH2A):c.850G>C (p.Glu284Gln)
|
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206933.4(USH2A):c.8537A>G (p.Lys2846Arg)
|
rs1664835856
|
|
NM_206933.4(USH2A):c.8545G>A (p.Gly2849Arg)
|
rs1338775991
|
|
NM_206933.4(USH2A):c.8546G>A (p.Gly2849Glu)
|
|
|
NM_206933.4(USH2A):c.8546G>T (p.Gly2849Val)
|
rs1064794034
|
|
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr)
|
rs397518038
|
|
NM_206933.4(USH2A):c.8551A>G (p.Asn2851Asp)
|
|
|
NM_206933.4(USH2A):c.8558+5G>A
|
rs746331566
|
|
NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)
|
|
|
NM_206933.4(USH2A):c.8593C>T (p.Leu2865Phe)
|
rs2102450789
|
|
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
|
|
|
NM_206933.4(USH2A):c.8603A>G (p.Asn2868Ser)
|
|
|
NM_206933.4(USH2A):c.8605C>A (p.Pro2869Thr)
|
|
|
NM_206933.4(USH2A):c.8626T>A (p.Trp2876Arg)
|
|
|
NM_206933.4(USH2A):c.8633A>G (p.Asn2878Ser)
|
|
|
NM_206933.4(USH2A):c.8659T>C (p.Tyr2887His)
|
|
|
NM_206933.4(USH2A):c.8660A>G (p.Tyr2887Cys)
|
rs2102450682
|
|
NM_206933.4(USH2A):c.8671G>A (p.Gly2891Ser)
|
rs1316891540
|
|
NM_206933.4(USH2A):c.8672G>T (p.Gly2891Val)
|
rs1664810364
|
|
NM_206933.4(USH2A):c.8681G>C (p.Arg2894Thr)
|
rs1369414978
|
|
NM_206933.4(USH2A):c.8682-16C>G
|
rs958618933
|
|
NM_206933.4(USH2A):c.8682-17A>G
|
rs1553271011
|
|
NM_206933.4(USH2A):c.8682-5T>C
|
rs1664495207
|
|
NM_206933.4(USH2A):c.8682G>T (p.Arg2894Ser)
|
rs773808835
|
|
NM_206933.4(USH2A):c.8687C>T (p.Thr2896Ile)
|
rs1664494411
|
|
NM_206933.4(USH2A):c.8689A>G (p.Thr2897Ala)
|
|
|
NM_206933.4(USH2A):c.868T>G (p.Ser290Ala)
|
|
|
NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser)
|
rs1553270997
|
|
NM_206933.4(USH2A):c.8702T>C (p.Met2901Thr)
|
|
|
NM_206933.4(USH2A):c.8705T>C (p.Leu2902Pro)
|
rs2102440783
|
|
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=)
|
rs397518040
|
|
NM_206933.4(USH2A):c.8710G>C (p.Val2904Leu)
|
rs142649882
|
|
NM_206933.4(USH2A):c.8710G>T (p.Val2904Leu)
|
|
|
NM_206933.4(USH2A):c.8719A>C (p.Ser2907Arg)
|
rs780709921
|
|
NM_206933.4(USH2A):c.8720G>A (p.Ser2907Asn)
|
rs770376106
|
|
NM_206933.4(USH2A):c.8725G>T (p.Gly2909Cys)
|
|
|
NM_206933.4(USH2A):c.8735C>T (p.Pro2912Leu)
|
|
|
NM_206933.4(USH2A):c.8738G>A (p.Ser2913Asn)
|
rs1664492083
|
|
NM_206933.4(USH2A):c.8748_8750dup (p.Thr2917_Val2918insThr)
|
|
|
NM_206933.4(USH2A):c.8778G>A (p.Glu2926=)
|
rs374146074
|
|
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)
|
rs374146074
|
|
NM_206933.4(USH2A):c.8780G>C (p.Arg2927Thr)
|
|
|
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
|
|
|
NM_206933.4(USH2A):c.8783G>T (p.Gly2928Val)
|
rs746586128
|
|
NM_206933.4(USH2A):c.8789A>T (p.Asn2930Ile)
|
|
|
NM_206933.4(USH2A):c.8798C>A (p.Ala2933Glu)
|
rs780358747
|
|
NM_206933.4(USH2A):c.8815A>G (p.Thr2939Ala)
|
rs1314306343
|
|
NM_206933.4(USH2A):c.881T>C (p.Leu294Pro)
|
|
|
NM_206933.4(USH2A):c.8845+4A>G
|
rs1057519222
|
|
NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
|
|
NM_206933.4(USH2A):c.8846-3C>G
|
|
|
NM_206933.4(USH2A):c.8851C>A (p.Gln2951Lys)
|
|
|
NM_206933.4(USH2A):c.8854G>T (p.Asp2952Tyr)
|
|
|
NM_206933.4(USH2A):c.8881A>G (p.Thr2961Ala)
|
rs758748351
|
|
NM_206933.4(USH2A):c.8885T>C (p.Leu2962Pro)
|
rs1016491364
|
|
NM_206933.4(USH2A):c.8896T>A (p.Ser2966Thr)
|
rs1048801397
|
|
NM_206933.4(USH2A):c.8905T>A (p.Ser2969Thr)
|
|
|
NM_206933.4(USH2A):c.8908A>C (p.Asn2970His)
|
|
|
NM_206933.4(USH2A):c.8913C>G (p.Asp2971Glu)
|
|
|
NM_206933.4(USH2A):c.895del (p.Gln299fs)
|
rs1338169194
|
|
NM_206933.4(USH2A):c.8978A>G (p.Tyr2993Cys)
|
|
|
NM_206933.4(USH2A):c.898T>C (p.Ser300Pro)
|
|
|
NM_206933.4(USH2A):c.8990T>C (p.Ile2997Thr)
|
|
|
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro)
|
rs886043586
|
|
NM_206933.4(USH2A):c.8996T>C (p.Val2999Ala)
|
rs1663829100
|
|
NM_206933.4(USH2A):c.899C>T (p.Ser300Leu)
|
rs2037715022
|
|
NM_206933.4(USH2A):c.9005G>T (p.Gly3002Val)
|
|
|
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr)
|
rs1553268568
|
|
NM_206933.4(USH2A):c.9049G>C (p.Asp3017His)
|
|
|
NM_206933.4(USH2A):c.9065G>T (p.Gly3022Val)
|
rs760398253
|
|
NM_206933.4(USH2A):c.9076C>T (p.Pro3026Ser)
|
rs2102821924
|
|
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
|
|
|
NM_206933.4(USH2A):c.9086TCA[2] (p.Ile3031del)
|
rs764038940
|
|
NM_206933.4(USH2A):c.9110G>C (p.Arg3037Pro)
|
|
|
NM_206933.4(USH2A):c.9121A>C (p.Thr3041Pro)
|
rs1663782195
|
|
NM_206933.4(USH2A):c.9122C>G (p.Thr3041Arg)
|
rs2102821872
|
|
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del)
|
rs760448755
|
|
NM_206933.4(USH2A):c.9143G>C (p.Gly3048Ala)
|
rs754391322
|
|
NM_206933.4(USH2A):c.9145G>A (p.Val3049Ile)
|
|
|
NM_206933.4(USH2A):c.9148G>T (p.Val3050Phe)
|
|
|
NM_206933.4(USH2A):c.9155A>G (p.Glu3052Gly)
|
|
|
NM_206933.4(USH2A):c.9177T>G (p.Asn3059Lys)
|
rs2102821801
|
|
NM_206933.4(USH2A):c.9181C>A (p.Leu3061Ile)
|
|
|
NM_206933.4(USH2A):c.9187A>G (p.Lys3063Glu)
|
rs1663780024
|
|
NM_206933.4(USH2A):c.9202G>A (p.Val3068Met)
|
|
|
NM_206933.4(USH2A):c.9205C>T (p.Pro3069Ser)
|
|
|
NM_206933.4(USH2A):c.9209G>A (p.Gly3070Glu)
|
rs2102821754
|
|
NM_206933.4(USH2A):c.920G>T (p.Ser307Ile)
|
rs1553250805
|
|
NM_206933.4(USH2A):c.9228C>A (p.Asp3076Glu)
|
|
|
NM_206933.4(USH2A):c.9235C>G (p.Pro3079Ala)
|
rs1663778262
|
|
NM_206933.4(USH2A):c.9248A>T (p.Tyr3083Phe)
|
rs768354522
|
|
NM_206933.4(USH2A):c.9258+3T>C
|
rs1553268427
|
|
NM_206933.4(USH2A):c.9259-10A>G
|
|
|
NM_206933.4(USH2A):c.9259-3C>A
|
rs2102816699
|
|
NM_206933.4(USH2A):c.9265G>A (p.Val3089Ile)
|
|
|
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)
|
rs1359713084
|
|
NM_206933.4(USH2A):c.9275T>C (p.Ile3092Thr)
|
|
|
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg)
|
rs373286445
|
|
NM_206933.4(USH2A):c.9292A>T (p.Ser3098Cys)
|
|
|
NM_206933.4(USH2A):c.9293G>C (p.Ser3098Thr)
|
rs201393158
|
|
NM_206933.4(USH2A):c.929G>A (p.Arg310Gln)
|
rs3820464
|
|
NM_206933.4(USH2A):c.92C>T (p.Thr31Ile)
|
|
|
NM_206933.4(USH2A):c.9311C>T (p.Thr3104Ile)
|
|
|
NM_206933.4(USH2A):c.9329C>T (p.Pro3110Leu)
|
|
|
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)
|
rs773379163
|
|
NM_206933.4(USH2A):c.9336T>A (p.Asp3112Glu)
|
|
|
NM_206933.4(USH2A):c.9338T>A (p.Ile3113Lys)
|
rs1345373932
|
|
NM_206933.4(USH2A):c.9340C>A (p.Pro3114Thr)
|
rs201071654
|
|
NM_206933.4(USH2A):c.9371+4C>T
|
|
|
NM_206933.4(USH2A):c.9372-4G>A
|
rs199953845
|
|
NM_206933.4(USH2A):c.9373T>C (p.Ser3125Pro)
|
|
|
NM_206933.4(USH2A):c.9388T>C (p.Trp3130Arg)
|
rs773132672
|
|
NM_206933.4(USH2A):c.9394T>C (p.Ser3132Pro)
|
rs1662882781
|
|
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.9425G>A (p.Gly3142Glu)
|
rs1003254008
|
|
NM_206933.4(USH2A):c.9425G>T (p.Gly3142Val)
|
|
|
NM_206933.4(USH2A):c.9427T>C (p.Tyr3143His)
|
|
|
NM_206933.4(USH2A):c.9428A>G (p.Tyr3143Cys)
|
rs1662881745
|
|
NM_206933.4(USH2A):c.9437T>C (p.Leu3146Pro)
|
rs1307351188
|
|
NM_206933.4(USH2A):c.943G>A (p.Ala315Thr)
|
rs776898258
|
|
NM_206933.4(USH2A):c.9448T>A (p.Trp3150Arg)
|
rs1266573598
|
|
NM_206933.4(USH2A):c.9461C>T (p.Ala3154Val)
|
rs1662879866
|
|
NM_206933.4(USH2A):c.9478G>A (p.Val3160Met)
|
|
|
NM_206933.4(USH2A):c.9487C>A (p.Gln3163Lys)
|
|
|
NM_206933.4(USH2A):c.9503G>T (p.Cys3168Phe)
|
rs746007103
|
|
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln)
|
rs760741238
|
|
NM_206933.4(USH2A):c.9527C>A (p.Pro3176His)
|
|
|
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln)
|
rs1553265812
|
|
NM_206933.4(USH2A):c.953A>G (p.Tyr318Cys)
|
|
|
NM_206933.4(USH2A):c.9578G>T (p.Cys3193Phe)
|
|
|
NM_206933.4(USH2A):c.9593A>C (p.Tyr3198Ser)
|
rs772611054
|
|
NM_206933.4(USH2A):c.9640T>C (p.Phe3214Leu)
|
rs2102793151
|
|
NM_206933.4(USH2A):c.9646C>A (p.Leu3216Met)
|
rs368240096
|
|
NM_206933.4(USH2A):c.9665G>T (p.Cys3222Phe)
|
|
|
NM_206933.4(USH2A):c.9668G>C (p.Cys3223Ser)
|
rs1662773660
|
|
NM_206933.4(USH2A):c.9669TGG[1] (p.Gly3225del)
|
rs756735388
|
|
NM_206933.4(USH2A):c.9677G>A (p.Arg3226Gln)
|
|
|
NM_206933.4(USH2A):c.9688G>T (p.Ala3230Ser)
|
rs528342000
|
|
NM_206933.4(USH2A):c.9707G>A (p.Cys3236Tyr)
|
|
|
NM_206933.4(USH2A):c.9725C>A (p.Ala3242Asp)
|
|
|
NM_206933.4(USH2A):c.9740-17T>G
|
rs2102778847
|
|
NM_206933.4(USH2A):c.9744A>C (p.Glu3248Asp)
|
rs1662239120
|
|
NM_206933.4(USH2A):c.9745G>C (p.Val3249Leu)
|
|
|
NM_206933.4(USH2A):c.9761A>C (p.Glu3254Ala)
|
|
|
NM_206933.4(USH2A):c.9762A>C (p.Glu3254Asp)
|
|
|
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
|
|
|
NM_206933.4(USH2A):c.977A>G (p.Asp326Gly)
|
|
|
NM_206933.4(USH2A):c.9781G>C (p.Val3261Leu)
|
rs1662225737
|
|
NM_206933.4(USH2A):c.9787A>G (p.Ile3263Val)
|
|
|
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del)
|
rs1246009294
|
|
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr)
|
rs1662225145
|
|
NM_206933.4(USH2A):c.9808A>G (p.Arg3270Gly)
|
rs1662224935
|
|
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile)
|
rs137876918
|
|
NM_206933.4(USH2A):c.9814C>T (p.Pro3272Ser)
|
rs1198810318
|
|
NM_206933.4(USH2A):c.9857T>C (p.Leu3286Pro)
|
rs2102778644
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9884G>A (p.Cys3295Tyr)
|
rs1662221668
|
|
NM_206933.4(USH2A):c.9907G>A (p.Asp3303Asn)
|
|
|
NM_206933.4(USH2A):c.9914A>C (p.Glu3305Ala)
|
|
|
NM_206933.4(USH2A):c.9920G>T (p.Cys3307Phe)
|
rs983763783
|
|
NM_206933.4(USH2A):c.9921TGG[1] (p.Gly3309del)
|
rs773436260
|
|
NM_206933.4(USH2A):c.9929AAG[1] (p.Glu3311del)
|
|
|
NM_206933.4(USH2A):c.9941T>C (p.Val3314Ala)
|
rs949059165
|
|
NM_206933.4(USH2A):c.9944A>G (p.Tyr3315Cys)
|
rs1662218841
|
|
NM_206933.4(USH2A):c.9957A>G (p.Pro3319=)
|
|
|
NM_206933.4(USH2A):c.9958+4A>G
|
|
|
NM_206933.4(USH2A):c.9958+6G>A
|
rs1553263549
|
|
NM_206933.4(USH2A):c.9958+8G>T
|
rs370383574
|
|
NM_206933.4(USH2A):c.9958G>A (p.Gly3320Ser)
|
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
NM_206933.4(USH2A):c.9961A>G (p.Met3321Val)
|
rs1291515069
|
|
NM_206933.4(USH2A):c.9962T>C (p.Met3321Thr)
|
rs2102770144
|
|
NM_206933.4(USH2A):c.9968G>T (p.Cys3323Phe)
|
rs1661945998
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|
NM_206933.4(USH2A):c.9993G>A (p.Met3331Ile)
|
rs1255334312
|
|