ClinVar Miner

List of variants in gene USH2A studied for Usher syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 751
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HGVS dbSNP
NC_000001.10:g.216144119_216591855del447737
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NM_007123.5(USH2A):c.*1024T>C rs439940
NM_007123.5(USH2A):c.*1077T>C rs886045945
NM_007123.5(USH2A):c.*1128G>T rs401269
NM_007123.5(USH2A):c.*131T>G rs55761862
NM_007123.5(USH2A):c.*147T>C rs771693146
NM_007123.5(USH2A):c.*267T>C rs570544314
NM_007123.5(USH2A):c.*316A>G rs886045949
NM_007123.5(USH2A):c.*397A>G rs772732997
NM_007123.5(USH2A):c.*547T>C rs566131886
NM_007123.5(USH2A):c.*548C>T rs769348449
NM_007123.5(USH2A):c.*575C>A rs886045948
NM_007123.5(USH2A):c.*596G>A rs886045947
NM_007123.5(USH2A):c.*685C>A rs59704861
NM_007123.5(USH2A):c.*787C>G rs41277222
NM_007123.5(USH2A):c.*799C>T rs192047831
NM_007123.5(USH2A):c.*837A>G rs779885066
NM_007123.5(USH2A):c.-159G>C rs886045955
NM_007123.5(USH2A):c.-181C>T rs866904288
NM_007123.5(USH2A):c.-229C>T rs151238022
NM_007123.5(USH2A):c.-289C>A rs886045956
NM_007123.5(USH2A):c.-289C>T rs886045956
NM_007123.5(USH2A):c.-355C>G rs868097748
NM_007123.5(USH2A):c.1039_1041del (p.Asp347del) rs1553250786
NM_007123.5(USH2A):c.126C>T (p.Asn42=) rs774473277
NM_007123.5(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_007123.5(USH2A):c.1327A>G (p.Asn443Asp) rs775075026
NM_007123.5(USH2A):c.1363A>G (p.Ser455Gly) rs866877329
NM_007123.5(USH2A):c.1438G>A (p.Val480Ile) rs138694314
NM_007123.5(USH2A):c.1516_1518TAT[1] (p.Tyr507del) rs1553250595
NM_007123.5(USH2A):c.1539C>T (p.Thr513=) rs199939890
NM_007123.5(USH2A):c.1547G>T (p.Gly516Val) rs1415484067
NM_007123.5(USH2A):c.1586_1588CAA[1] (p.Thr530del) rs1553250409
NM_007123.5(USH2A):c.1789C>A (p.His597Asn) rs201127450
NM_007123.5(USH2A):c.1803del (p.Gly602fs) rs1553327452
NM_007123.5(USH2A):c.1829A>C (p.His610Pro) rs1571668556
NM_007123.5(USH2A):c.1900G>T (p.Ala634Ser) rs759589036
NM_007123.5(USH2A):c.1903A>G (p.Ile635Val) rs201808654
NM_007123.5(USH2A):c.2279A>G (p.Asn760Ser) rs776095235
NM_007123.5(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.2309_2311AAG[1] (p.Glu771del) rs1553320519
NM_007123.5(USH2A):c.2390_2410dup (p.Pro804_Gly805insArgAspThrAlaGlySerLeu) rs1553320498
NM_007123.5(USH2A):c.2435_2446del (p.Thr812_Cys815del) rs757082108
NM_007123.5(USH2A):c.2459A>G (p.Asn820Ser) rs34447581
NM_007123.5(USH2A):c.2534del (p.Leu845fs) rs1572088481
NM_007123.5(USH2A):c.2616del (p.Gly873_Val874insTer) rs1553320451
NM_007123.5(USH2A):c.2810G>T (p.Gly937Val) rs1572074313
NM_007123.5(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_007123.5(USH2A):c.302del (p.Phe101fs) rs1553258076
NM_007123.5(USH2A):c.3129dup (p.Val1044fs) rs786205115
NM_007123.5(USH2A):c.313_321del (p.Leu105_Ser107del) rs1396847135
NM_007123.5(USH2A):c.3157+12C>T rs199853422
NM_007123.5(USH2A):c.3158-47_3158-17del rs1553315049
NM_007123.5(USH2A):c.3177G>A (p.Pro1059=) rs767648070
NM_007123.5(USH2A):c.3199_3201TCT[1] (p.Ser1068del) rs1461275915
NM_007123.5(USH2A):c.3250_3251insTACTTACAGTTTACT (p.Trp1084_Leu1085insLeuLeuThrValTyr) rs1553314999
NM_007123.5(USH2A):c.3317-14del rs376363548
NM_007123.5(USH2A):c.3342C>T (p.Asp1114=) rs755765979
NM_007123.5(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_007123.5(USH2A):c.3489C>T (p.Asp1163=) rs139156019
NM_007123.5(USH2A):c.3492_3493TG[1] (p.Val1165fs) rs1553313844
NM_007123.5(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_007123.5(USH2A):c.3680dup (p.Cys1228fs) rs1553313793
NM_007123.5(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_007123.5(USH2A):c.3831_3834delinsG (p.Leu1278del) rs1215540106
NM_007123.5(USH2A):c.3891del (p.Gln1298fs) rs1553313551
NM_007123.5(USH2A):c.3967del (p.Thr1322_Met1323insTer) rs527236136
NM_007123.5(USH2A):c.3969G>A (p.Met1323Ile) rs886045953
NM_007123.5(USH2A):c.402del (p.Cys135fs) rs1255535680
NM_007123.5(USH2A):c.415_417CCT[1] (p.Pro140del) rs773595155
NM_007123.5(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_007123.5(USH2A):c.4252-36CTTT[5] rs372388546
NM_007123.5(USH2A):c.4252-36CTTT[7] rs372388546
NM_007123.5(USH2A):c.4276G>A (p.Glu1426Lys) rs886045952
NM_007123.5(USH2A):c.4349T>C (p.Val1450Ala) rs886045951
NM_007123.5(USH2A):c.4366G>A (p.Ala1456Thr) rs886045950
NM_007123.5(USH2A):c.4412G>C (p.Arg1471Thr) rs369357349
NM_007123.5(USH2A):c.442_443inv (p.Phe148Asn)
NM_007123.5(USH2A):c.4521_4522insCAGTCA (p.Ser1508_Leu1509insGlnSer) rs1553310736
NM_007123.5(USH2A):c.4603dup (p.His1535fs) rs1572020896
NM_007123.5(USH2A):c.485+3A>T rs1553258031
NM_007123.5(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_007123.5(USH2A):c.586C>T (p.Pro196Ser) rs756041909
NM_007123.5(USH2A):c.651+15A>G rs765252898
NM_007123.5(USH2A):c.779T>G (p.Leu260Ter) rs121912598
NM_007123.5(USH2A):c.849-4A>G rs765189933
NM_007123.5(USH2A):c.895del (p.Gln299fs) rs1338169194
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_007123.5(USH2A):c.950G>A (p.Arg317Gln) rs760741238
NM_007123.5(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.3368A>G rs775177930
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.4396+6857_6486-425del
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs) rs1188025733
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.2:c.(?_4628)_(9371_?)del
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln) rs758303489
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.10151C>A (p.Ser3384Tyr) rs553202000
NM_206933.3(USH2A):c.10179del (p.Met3393fs) rs1553262411
NM_206933.3(USH2A):c.10183-1375_10387+1389del
NM_206933.3(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_206933.3(USH2A):c.10317_10318delinsT (p.Ile3440fs) rs1553261898
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.3(USH2A):c.10388-1G>A rs1553261478
NM_206933.3(USH2A):c.10388-2A>G rs1553261479
NM_206933.3(USH2A):c.1040A>G (p.Asp347Gly) rs762384558
NM_206933.3(USH2A):c.10421A>G (p.Tyr3474Cys) rs749121941
NM_206933.3(USH2A):c.10465G>A (p.Ala3489Thr) rs1553261464
NM_206933.3(USH2A):c.10525A>T (p.Lys3509Ter) rs944675223
NM_206933.3(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718
NM_206933.3(USH2A):c.10586-2A>G rs370327669
NM_206933.3(USH2A):c.10596_10597insAT (p.Tyr3533fs) rs1553261387
NM_206933.3(USH2A):c.10634G>A (p.Arg3545Gln) rs375978706
NM_206933.3(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.3(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.3(USH2A):c.10842_10845del (p.Glu3614fs) rs1553261118
NM_206933.3(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900
NM_206933.3(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464
NM_206933.3(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759
NM_206933.3(USH2A):c.11048-2A>G rs200871041
NM_206933.3(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal) rs1553259182
NM_206933.3(USH2A):c.11100_11104del (p.Tyr3701fs) rs1553259179
NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11174del (p.Phe3725fs) rs1571657875
NM_206933.3(USH2A):c.11231+1G>A rs111033382
NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132
NM_206933.3(USH2A):c.11290dup (p.Ile3764fs) rs1553259060
NM_206933.3(USH2A):c.11328T>A (p.Tyr3776Ter) rs749726310
NM_206933.3(USH2A):c.11389+1G>A rs368770647
NM_206933.3(USH2A):c.11389+1del rs1414935620
NM_206933.3(USH2A):c.11389+3A>T rs753886165
NM_206933.3(USH2A):c.11390-2del rs760100733
NM_206933.3(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.3(USH2A):c.1142A>G (p.Gln381Arg) rs1553250774
NM_206933.3(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
NM_206933.3(USH2A):c.11434_11436del (p.Asn3812del) rs1553257704
NM_206933.3(USH2A):c.11534A>C (p.Gln3845Pro) rs1553257674
NM_206933.3(USH2A):c.11549-1G>A rs878853407
NM_206933.3(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.3(USH2A):c.11687_11689TCA[2] (p.Ile3898del) rs727504714
NM_206933.3(USH2A):c.11694del (p.Asn3899fs) rs1553257502
NM_206933.3(USH2A):c.11703del (p.Phe3901fs) rs1553257497
NM_206933.3(USH2A):c.11712-2A>C rs753505333
NM_206933.3(USH2A):c.11712-2A>G rs753505333
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.11734dup (p.Glu3912fs) rs1553256587
NM_206933.3(USH2A):c.11815dup (p.Glu3939fs) rs1553256576
NM_206933.3(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303
NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) rs779791079
NM_206933.3(USH2A):c.12079C>T (p.Gln4027Ter) rs527236138
NM_206933.3(USH2A):c.12126_12128TGT[1] (p.Val4044del) rs1553252937
NM_206933.3(USH2A):c.12139_12147del (p.Asn4047_Ala4049del) rs1553252931
NM_206933.3(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.3(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703
NM_206933.3(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.12309del (p.Phe4103fs) rs1553252528
NM_206933.3(USH2A):c.1246G>T (p.Ala416Ser) rs187897763
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12580T>C (p.Cys4194Arg) rs769001387
NM_206933.3(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.3(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.3(USH2A):c.12712T>C (p.Tyr4238His) rs1571949388
NM_206933.3(USH2A):c.12737_12738delinsGG (p.Ala4246Gly) rs1553252489
NM_206933.3(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578
NM_206933.3(USH2A):c.12806C>G (p.Pro4269Arg) rs1553252475
NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.3(USH2A):c.12859_12863del (p.Pro4287fs) rs1553252469
NM_206933.3(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.3(USH2A):c.13094G>A (p.Trp4365Ter) rs1163061829
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.3(USH2A):c.13168_13171TTAG[1] (p.Val4391fs) rs1553252409
NM_206933.3(USH2A):c.1316T>C (p.Leu439Pro) rs1558038097
NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13337delinsGTC (p.Asn4446fs) rs1553252389
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.1340A>G (p.Tyr447Cys) rs1553250638
NM_206933.3(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406
NM_206933.3(USH2A):c.1346G>A (p.Arg449His) rs766715882
NM_206933.3(USH2A):c.13556del (p.Ile4518_Leu4519insTer) rs1553252363
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745
NM_206933.3(USH2A):c.13664C>T (p.Pro4555Leu) rs772415448
NM_206933.3(USH2A):c.13665_13667dup (p.Val4556dup) rs1553252347
NM_206933.3(USH2A):c.13700del (p.Leu4567fs) rs1212608410
NM_206933.3(USH2A):c.13750dup (p.Thr4584fs) rs1553252328
NM_206933.3(USH2A):c.13776G>C (p.Gln4592His) rs1350039852
NM_206933.3(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136
NM_206933.3(USH2A):c.13811+1G>A rs1177257719
NM_206933.3(USH2A):c.13811+2T>C rs766515318
NM_206933.3(USH2A):c.13812-1G>A rs199782530
NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.3(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.3(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.3(USH2A):c.1397G>T (p.Gly466Val) rs1553250627
NM_206933.3(USH2A):c.13985del (p.Gln4662fs) rs1553252041
NM_206933.3(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329
NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.3(USH2A):c.14139_14152del (p.Trp4713fs) rs1553250416
NM_206933.3(USH2A):c.14204C>G (p.Pro4735Arg) rs1333608275
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.14344-1G>A rs919142559
NM_206933.3(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839
NM_206933.3(USH2A):c.14402_14403del (p.Tyr4801fs) rs1553250192
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
NM_206933.3(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050
NM_206933.3(USH2A):c.14582+1G>C rs1553250150
NM_206933.3(USH2A):c.14679del (p.Ala4894fs) rs1553250077
NM_206933.3(USH2A):c.14791+2T>A rs1553250050
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.14894_14915del (p.Val4965fs) rs1553249452
NM_206933.3(USH2A):c.14914C>T (p.Arg4972Cys) rs766759858
NM_206933.3(USH2A):c.14965_14968dup (p.Thr4990fs) rs781625683
NM_206933.3(USH2A):c.14969-1G>A rs1553249311
NM_206933.3(USH2A):c.14970_14972CTT[1] (p.Phe4993del) rs1553249310
NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.3(USH2A):c.14995A>G (p.Thr4999Ala) rs1553249303
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.15037_15043del (p.Thr5013fs) rs1553249294
NM_206933.3(USH2A):c.15052+1G>A rs1553249290
NM_206933.3(USH2A):c.15115_15117del (p.Ser5039del) rs1553248836
NM_206933.3(USH2A):c.15147_15160del (p.Met5049fs) rs1553248832
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.15200del (p.Ile5067fs) rs1295968274
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.15297+3A>G rs57754754
NM_206933.3(USH2A):c.15298-1176A>G rs144467375
NM_206933.3(USH2A):c.15298-18_15301dup rs1553248238
NM_206933.3(USH2A):c.15322del (p.Arg5108fs) rs1553248234
NM_206933.3(USH2A):c.15331_15333del (p.Thr5111del) rs766970587
NM_206933.3(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.3(USH2A):c.15380del (p.Pro5127fs) rs1553248216
NM_206933.3(USH2A):c.15412C>T (p.Gln5138Ter) rs763463859
NM_206933.3(USH2A):c.1541T>C (p.Ile514Thr) rs768813865
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972
NM_206933.3(USH2A):c.15577G>T (p.Glu5193Ter) rs1365989569
NM_206933.3(USH2A):c.15577del (p.Glu5193fs) rs1553313073
NM_206933.3(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.3(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_206933.3(USH2A):c.1678C>G (p.Pro560Ala) rs147509797
NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.3(USH2A):c.1724G>T (p.Cys575Phe) rs483353054
NM_206933.3(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.3(USH2A):c.1808G>A (p.Gly603Glu) rs1427232199
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.187C>T (p.Arg63Ter) rs781223647
NM_206933.3(USH2A):c.1935A>T (p.Thr645=) rs146670690
NM_206933.3(USH2A):c.1972-1G>A rs372927796
NM_206933.3(USH2A):c.1A>G (p.Met1Val) rs924627806
NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.3(USH2A):c.206G>T (p.Ser69Ile) rs377254440
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2168-1G>C rs748961218
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.232T>G (p.Phe78Val) rs775094277
NM_206933.3(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) rs767078782
NM_206933.3(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.2776C>T (p.Arg926Cys) rs749621457
NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2809+1G>A rs759433119
NM_206933.3(USH2A):c.2983C>T (p.Gln995Ter) rs527236135
NM_206933.3(USH2A):c.2994-2A>G rs1553316430
NM_206933.3(USH2A):c.2994A>T (p.Arg998Ser) rs1553316429
NM_206933.3(USH2A):c.3086G>T (p.Gly1029Val) rs768158580
NM_206933.3(USH2A):c.3158-2A>G rs878853404
NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3317-1G>A rs1553313909
NM_206933.3(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) rs397518013
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.3(USH2A):c.3724C>T (p.Pro1242Ser) rs755849364
NM_206933.3(USH2A):c.3780T>C (p.His1260=) rs759937489
NM_206933.3(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292
NM_206933.3(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4070C>T (p.Thr1357Met) rs201190539
NM_206933.3(USH2A):c.4081+2T>C rs1553313505
NM_206933.3(USH2A):c.4082-2A>G rs1553313340
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.3(USH2A):c.419C>A (p.Pro140His) rs759474177
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) rs111033367
NM_206933.3(USH2A):c.4397-1G>A rs199982344
NM_206933.3(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.3(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812
NM_206933.3(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.3(USH2A):c.449T>A (p.Leu150Ter) rs1553258037
NM_206933.3(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803
NM_206933.3(USH2A):c.4627+1205_4627+1208del rs751661540
NM_206933.3(USH2A):c.4627+945AT[3] rs886045946
NM_206933.3(USH2A):c.4679C>A (p.Ala1560Glu) rs1388648004
NM_206933.3(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651
NM_206933.3(USH2A):c.4818dup (p.Trp1607fs) rs1553300558
NM_206933.3(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.4886-1G>A rs1553300340
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.4988-2A>G rs143521854
NM_206933.3(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984
NM_206933.3(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499
NM_206933.3(USH2A):c.5051C>T (p.Pro1684Leu) rs771088957
NM_206933.3(USH2A):c.5083del (p.Ser1695fs) rs1553300016
NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.3(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785
NM_206933.3(USH2A):c.5278del (p.Asp1760fs) rs754374132
NM_206933.3(USH2A):c.5375G>A (p.Gly1792Glu) rs527598451
NM_206933.3(USH2A):c.538T>C (p.Ser180Pro) rs1171672823
NM_206933.3(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079
NM_206933.3(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414
NM_206933.3(USH2A):c.5454_5455insAGAAATGGA (p.Leu1819_Met1820insArgAsnGly) rs1553299065
NM_206933.3(USH2A):c.5499_5511del (p.Asn1834fs) rs1553299046
NM_206933.3(USH2A):c.5545_5554del (p.Ser1849fs) rs1553299022
NM_206933.3(USH2A):c.5561_5572+7dup rs1553299014
NM_206933.3(USH2A):c.5572+1G>A rs775293551
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.3(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.3(USH2A):c.5666A>G (p.Asp1889Gly) rs775803174
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.5883_5884del (p.Arg1962fs) rs1553297684
NM_206933.3(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291
NM_206933.3(USH2A):c.6050-1G>A rs1035024403
NM_206933.3(USH2A):c.6050-2A>G rs772124060
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6167_6169del (p.Pro2056del) rs776262139
NM_206933.3(USH2A):c.6178dup (p.Gln2060fs) rs1553294144
NM_206933.3(USH2A):c.6317= (p.Thr2106=) rs6657250
NM_206933.3(USH2A):c.6325G>A (p.Asp2109Asn) rs759545289
NM_206933.3(USH2A):c.6326-2A>G rs1553287118
NM_206933.3(USH2A):c.6326-3_6332del rs1553287116
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.647T>G (p.Val216Gly) rs1571801514
NM_206933.3(USH2A):c.6485+1G>A rs1553287070
NM_206933.3(USH2A):c.651+1G>A rs1553257761
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6672dup (p.Gly2225fs) rs1284826852
NM_206933.3(USH2A):c.6675dup (p.Cys2226fs) rs1553285970
NM_206933.3(USH2A):c.6708_6717del (p.Asp2237fs) rs1553285944
NM_206933.3(USH2A):c.6709G>T (p.Asp2237Tyr) rs1177455978
NM_206933.3(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.3(USH2A):c.6805+1G>T rs1553285919
NM_206933.3(USH2A):c.6810del (p.Ile2271fs) rs1553282707
NM_206933.3(USH2A):c.6815C>T (p.Thr2272Met) rs776972526
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.6868dup (p.Ser2290fs) rs1553282698
NM_206933.3(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.3(USH2A):c.6908C>T (p.Ser2303Phe) rs766809837
NM_206933.3(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.3(USH2A):c.7000A>G (p.Asn2334Asp) rs201281141
NM_206933.3(USH2A):c.7061G>A (p.Arg2354His) rs201386640
NM_206933.3(USH2A):c.7102_7103AT[3] (p.Phe2369fs) rs1553281890
NM_206933.3(USH2A):c.7130dup (p.Asn2377fs) rs1553277866
NM_206933.3(USH2A):c.7156G>T (p.Val2386Phe) rs199825458
NM_206933.3(USH2A):c.7167C>T (p.Ser2389=) rs200243588
NM_206933.3(USH2A):c.7342C>G (p.Pro2448Ala) rs1553274535
NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7492A>T (p.Ser2498Cys) rs754310768
NM_206933.3(USH2A):c.7493del (p.Ser2498fs) rs1553274448
NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.3(USH2A):c.7531del (p.Val2511fs) rs1553274435
NM_206933.3(USH2A):c.7568G>A (p.Trp2523Ter) rs1553274424
NM_206933.3(USH2A):c.7594+2del rs762608746
NM_206933.3(USH2A):c.7595-1G>A rs1553273421
NM_206933.3(USH2A):c.7595-1G>T rs1553273421
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637
NM_206933.3(USH2A):c.7620del (p.Leu2541fs) rs1553273412
NM_206933.3(USH2A):c.7765C>G (p.His2589Asp) rs747492773
NM_206933.3(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430
NM_206933.3(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.8063C>T (p.Ser2688Phe) rs1205473124
NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760
NM_206933.3(USH2A):c.8177G>A (p.Gly2726Glu) rs549796389
NM_206933.3(USH2A):c.8188C>T (p.Pro2730Ser) rs768532694
NM_206933.3(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.3(USH2A):c.8212G>A (p.Asp2738Asn) rs750687826
NM_206933.3(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.3(USH2A):c.8262_8264del (p.Leu2755del) rs1553272199
NM_206933.3(USH2A):c.8266del (p.Ser2756fs) rs1558141330
NM_206933.3(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.3(USH2A):c.8391del (p.Gly2799fs) rs1553272176
NM_206933.3(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.3(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.3(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.3(USH2A):c.8634_8637TATT[1] (p.Tyr2880fs) rs1553272035
NM_206933.3(USH2A):c.8682-17A>G rs1553271011
NM_206933.3(USH2A):c.8682-1G>A rs1553271001
NM_206933.3(USH2A):c.8682-2A>C rs1553271002
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.8693A>C (p.Tyr2898Ser) rs1553270997
NM_206933.3(USH2A):c.8834G>A (p.Trp2945Ter) rs760302201
NM_206933.3(USH2A):c.8835G>A (p.Trp2945Ter) rs1553270960
NM_206933.3(USH2A):c.8845+1G>A rs1553270954
NM_206933.3(USH2A):c.8846-1G>T rs771051185
NM_206933.3(USH2A):c.8846-2A>G rs1553268594
NM_206933.3(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390
NM_206933.3(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720
NM_206933.3(USH2A):c.8890dup (p.Trp2964fs) rs786205116
NM_206933.3(USH2A):c.8913_8914CT[2] (p.Leu2973fs) rs1553268582
NM_206933.3(USH2A):c.9014G>C (p.Ser3005Thr) rs1553268568
NM_206933.3(USH2A):c.9041C>A (p.Thr3014Asn) rs144892841
NM_206933.3(USH2A):c.9055+1G>A rs1553268562
NM_206933.3(USH2A):c.9086_9088TCA[2] (p.Ile3031del) rs764038940
NM_206933.3(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.3(USH2A):c.9127_9129del (p.Pro3043del) rs760448755
NM_206933.3(USH2A):c.9191del (p.Thr3064fs) rs1553268435
NM_206933.3(USH2A):c.920G>T (p.Ser307Ile) rs1553250805
NM_206933.3(USH2A):c.9222_9223GA[2] (p.Asp3076fs) rs1553268434
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9258+1G>T rs748810737
NM_206933.3(USH2A):c.9258G>T (p.Gln3086His) rs1380261595
NM_206933.3(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.3(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) rs773379163
NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) rs536593247
NM_206933.3(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830
NM_206933.3(USH2A):c.9372-1G>A rs1558111861
NM_206933.3(USH2A):c.9413G>A (p.Gly3138Asp) rs756163056
NM_206933.3(USH2A):c.9453T>A (p.Tyr3151Ter) rs1553265829
NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045
NM_206933.3(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln) rs1553265812
NM_206933.3(USH2A):c.9565G>T (p.Ala3189Ser) rs752996514
NM_206933.3(USH2A):c.9571-2A>G rs751111524
NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950
NM_206933.3(USH2A):c.9827C>A (p.Ser3276Ter) rs863224941
NM_206933.3(USH2A):c.9827C>G (p.Ser3276Ter) rs863224941
NM_206933.3(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.3(USH2A):c.9862G>C (p.Asp3288His) rs1334903455
NM_206933.3(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382
NM_206933.3(USH2A):c.9921_9923TGG[1] (p.Gly3309del) rs773436260
NM_206933.3(USH2A):c.9922G>A (p.Gly3308Ser) rs752811693
NM_206933.3(USH2A):c.9959-1G>A rs970237364
NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.3(USH2A):c.997T>C (p.Ser333Pro) rs368986242
NM_206933.4(USH2A):c.-204-15G>A
NM_206933.4(USH2A):c.-305C>G
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.10211del (p.Pro3404fs) rs1571686349
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=) rs760725818
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) rs397517966
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=) rs397517967
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys) rs397517969
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) rs397517970
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971
NM_206933.4(USH2A):c.1143+12C>T rs727505167
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro)
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) rs1386612395
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln) rs727504582
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322
NM_206933.4(USH2A):c.12067-1G>A rs397517977
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs) rs1571953449
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170
NM_206933.4(USH2A):c.12295-2A>G rs151148854
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His) rs397517980
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser) rs727505117
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe) rs146240320
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs) rs1571947757
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu)
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter) rs1571945476
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser) rs369513607
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=) rs200934092
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met) rs201847741
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=) rs139847770
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) rs397517992
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn) rs764124390
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) rs397517995
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=) rs762610249
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=) rs397517998
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter) rs1571701072
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419
NM_206933.4(USH2A):c.1550+10T>C rs200728788
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) rs199672621
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His) rs727505155
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) rs551424240
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys) rs570446209
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128
NM_206933.4(USH2A):c.1623G>A (p.Glu541=) rs146805130
NM_206933.4(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)
NM_206933.4(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.1841-2A>G rs397518003
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro) rs777701725
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.1972-4C>T
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.4(USH2A):c.2031G>T (p.Gln677His)
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu) rs45555435
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.4(USH2A):c.2167+11C>T rs139647897
NM_206933.4(USH2A):c.2167+4C>T rs200638562
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2479A>C (p.Asn827His) rs876658114
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala)
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) rs375083165
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn) rs202247801
NM_206933.4(USH2A):c.3660A>G (p.Val1220=)
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_206933.4(USH2A):c.3812-8T>G rs646094
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu)
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser)
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670
NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.4(USH2A):c.4627+10T>C
NM_206933.4(USH2A):c.4627+1133G>A
NM_206933.4(USH2A):c.4627+28A>G
NM_206933.4(USH2A):c.4627+32G>T
NM_206933.4(USH2A):c.4627+343A>G
NM_206933.4(USH2A):c.4627+36C>T
NM_206933.4(USH2A):c.4627+442C>G
NM_206933.4(USH2A):c.4627+48A>T
NM_206933.4(USH2A):c.4627+510G>A
NM_206933.4(USH2A):c.4627+512G>A
NM_206933.4(USH2A):c.4627+596A>G
NM_206933.4(USH2A):c.4627+641G>A
NM_206933.4(USH2A):c.4627+686T>A
NM_206933.4(USH2A):c.4627+850C>T
NM_206933.4(USH2A):c.4627+974T>C
NM_206933.4(USH2A):c.4627+981T>A
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165
NM_206933.4(USH2A):c.4758+3A>G rs117798425
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) rs397518017
NM_206933.4(USH2A):c.485+12T>C rs201857884
NM_206933.4(USH2A):c.486-13G>A rs116367260
NM_206933.4(USH2A):c.486-15C>T rs114194722
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963
NM_206933.4(USH2A):c.532dup (p.Thr178fs) rs1571801788
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val) rs1571941511
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) rs529355834
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567
NM_206933.4(USH2A):c.5857+2T>C rs397518022
NM_206933.4(USH2A):c.5858-12A>G rs727503727
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) rs370597096
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=) rs727503726
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=) rs727505165
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.6325+7390C>T rs207461108
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) rs397518025
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=) rs876657629
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302
NM_206933.4(USH2A):c.6657+1G>A rs1571876788
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027
NM_206933.4(USH2A):c.6806-9473C>A rs207461105
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=) rs397518028
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) rs727503721
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile) rs876658115
NM_206933.4(USH2A):c.7451+3G>A rs397518030
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp) rs397518031
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe) rs397518033
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg) rs397518032
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln) rs267598376
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=) rs727505274
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529
NM_206933.4(USH2A):c.848+5G>C rs74329863
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=) rs753719500
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.4(USH2A):c.8559-2A>G rs397518039
NM_206933.4(USH2A):c.8681+1G>A rs876657733
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg) rs1571762632
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys) rs559922535
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr) rs876658116
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu) rs397518044
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) rs143352618
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=) rs181961185
NM_206933.4(USH2A):c.9371+1G>C rs41308425
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654

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