ClinVar Miner

List of variants in gene USH2A reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 579
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HGVS dbSNP
NC_000001.10:g.(?_216061768)_(216074247_?)del
NC_000001.10:g.(?_216465517)_(216500996_?)del
NC_000001.11:g.215640688C>A
NC_000001.11:g.215671036T>C
NC_000001.11:g.215671223G>C
NC_000001.11:g.215674481T>C
NC_000001.11:g.215674772G>A
NC_000001.11:g.215675014C>A
NC_000001.11:g.215675016T>G
NC_000001.11:g.215741490C>G
NC_000001.11:g.215743282T>C
NC_000001.11:g.215799051G>A
NC_000001.11:g.215845832C>T
NC_000001.11:g.215889016T>C
NC_000001.11:g.215889023C>G
NC_000001.11:g.215900819C>T
NC_000001.11:g.215934722G>A
NC_000001.11:g.215993101C>T
NC_000001.11:g.216046477A>G
NC_000001.11:g.216078157G>A
NC_000001.11:g.216175321T>A
NC_000001.11:g.216175443T>A
NC_000001.11:g.216196635G>C
NC_000001.11:g.216199854C>G
NC_000001.11:g.216324197A>G
NC_000001.11:g.216418612T>C
NM_206933.2(USH2A):c.(?_1645)_(1840_?)del (p.(?))
NM_206933.2(USH2A):c.(?_8682)_(8845_?)del (p.(?))
NM_206933.2(USH2A):c.11048-?_11711+?dup
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.9335_9371+8063del
NM_206933.2:c.(?_4628)_(9371_?)del
NM_206933.3(USH2A):c.*4A>G rs530405236
NM_206933.3(USH2A):c.-1C>G rs547139318
NM_206933.3(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.3(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.3(USH2A):c.10013C>T (p.Ser3338Leu) rs746870063
NM_206933.3(USH2A):c.10062G>C (p.Val3354=) rs200172376
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.3(USH2A):c.10224A>G (p.Glu3408=) rs1553261931
NM_206933.3(USH2A):c.10232= (p.Glu3411=) rs10864198
NM_206933.3(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198
NM_206933.3(USH2A):c.1027T>G (p.Ser343Ala) rs397517965
NM_206933.3(USH2A):c.10312G>A (p.Ala3438Thr) rs146980351
NM_206933.3(USH2A):c.10341C>T (p.Ala3447=) rs372015149
NM_206933.3(USH2A):c.10344A>G (p.Glu3448=) rs760725818
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10387+5C>G rs746536041
NM_206933.3(USH2A):c.10398C>G (p.Leu3466=) rs563370514
NM_206933.3(USH2A):c.10415A>G (p.Tyr3472Cys) rs1553261469
NM_206933.3(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.3(USH2A):c.10470G>T (p.Val3490=) rs201401001
NM_206933.3(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216
NM_206933.3(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118
NM_206933.3(USH2A):c.10517C>T (p.Thr3506Met) rs397517966
NM_206933.3(USH2A):c.10518G>A (p.Thr3506=) rs114719960
NM_206933.3(USH2A):c.10524C>A (p.Thr3508=) rs397517967
NM_206933.3(USH2A):c.10552G>A (p.Val3518Ile) rs75397806
NM_206933.3(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.3(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.3(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057
NM_206933.3(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.3(USH2A):c.10656T>C (p.Ser3552=) rs727503719
NM_206933.3(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.3(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.3(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265
NM_206933.3(USH2A):c.10740+7G>C rs201206110
NM_206933.3(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.3(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.3(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307
NM_206933.3(USH2A):c.10836C>A (p.Val3612=) rs61276761
NM_206933.3(USH2A):c.10851C>T (p.Asn3617=) rs12073994
NM_206933.3(USH2A):c.10858A>G (p.Ile3620Val) rs145207584
NM_206933.3(USH2A):c.10896C>T (p.Leu3632=) rs200287425
NM_206933.3(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166
NM_206933.3(USH2A):c.10922G>A (p.Arg3641Lys) rs397517969
NM_206933.3(USH2A):c.10933G>A (p.Val3645Ile) rs397517970
NM_206933.3(USH2A):c.11008G>A (p.Glu3670Lys) rs140548353
NM_206933.3(USH2A):c.11048-15C>T rs74141403
NM_206933.3(USH2A):c.11048-1G>A rs111033414
NM_206933.3(USH2A):c.11121G>T (p.Lys3707Asn) rs111033515
NM_206933.3(USH2A):c.11145T>A (p.Tyr3715Ter) rs727504608
NM_206933.3(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392
NM_206933.3(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272
NM_206933.3(USH2A):c.11231+1G>T rs111033382
NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132
NM_206933.3(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971
NM_206933.3(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371
NM_206933.3(USH2A):c.11389+15del rs397517972
NM_206933.3(USH2A):c.11389+9A>T rs12095085
NM_206933.3(USH2A):c.1139A>G (p.Tyr380Cys) rs111033395
NM_206933.3(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972
NM_206933.3(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.3(USH2A):c.11414T>C (p.Val3805Ala) rs760024584
NM_206933.3(USH2A):c.1143+12C>T rs727505167
NM_206933.3(USH2A):c.1143+1G>A rs397517974
NM_206933.3(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.3(USH2A):c.11467G>A (p.Val3823Ile) rs142481947
NM_206933.3(USH2A):c.11500T>A (p.Leu3834Met) rs1553257690
NM_206933.3(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616
NM_206933.3(USH2A):c.11549-5del rs34565443
NM_206933.3(USH2A):c.11597C>T (p.Ala3866Val) rs138326802
NM_206933.3(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.3(USH2A):c.11602A>T (p.Met3868Leu) rs35309576
NM_206933.3(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
NM_206933.3(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285
NM_206933.3(USH2A):c.11687_11689TCA[2] (p.Ile3898del) rs727504714
NM_206933.3(USH2A):c.11728G>C (p.Glu3910Gln) rs1436435041
NM_206933.3(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606
NM_206933.3(USH2A):c.11736G>A (p.Glu3912=) rs56053654
NM_206933.3(USH2A):c.11740G>A (p.Val3914Ile) rs1401744202
NM_206933.3(USH2A):c.11794C>T (p.Leu3932=) rs111033505
NM_206933.3(USH2A):c.1179A>G (p.Gln393=) rs148447919
NM_206933.3(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950
NM_206933.3(USH2A):c.11822G>A (p.Arg3941Gln) rs727504582
NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.3(USH2A):c.11907A>T (p.Pro3969=) rs61635304
NM_206933.3(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.3(USH2A):c.11928G>A (p.Thr3976=) rs55961436
NM_206933.3(USH2A):c.11946G>A (p.Leu3982=) rs2820718
NM_206933.3(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976
NM_206933.3(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322
NM_206933.3(USH2A):c.12046G>A (p.Val4016Met) rs138803855
NM_206933.3(USH2A):c.12067-1G>C rs397517977
NM_206933.3(USH2A):c.12067-2A>G rs397517978
NM_206933.3(USH2A):c.12088C>T (p.Leu4030=) rs141528682
NM_206933.3(USH2A):c.12093C>T (p.Tyr4031=) rs55921307
NM_206933.3(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.3(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.3(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615
NM_206933.3(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170
NM_206933.3(USH2A):c.1227G>C (p.Trp409Cys) rs397517979
NM_206933.3(USH2A):c.12294+1G>C rs111033526
NM_206933.3(USH2A):c.12295-2A>G rs151148854
NM_206933.3(USH2A):c.12295-3T>A rs111033518
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945
NM_206933.3(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.3(USH2A):c.12358C>T (p.Arg4120Cys) rs727503718
NM_206933.3(USH2A):c.12362G>A (p.Arg4121His) rs397517980
NM_206933.3(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084
NM_206933.3(USH2A):c.12462T>C (p.Pro4154=) rs727503717
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466
NM_206933.3(USH2A):c.12558T>C (p.Ile4186=) rs369335995
NM_206933.3(USH2A):c.12560G>T (p.Arg4187Leu) rs147304271
NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572
NM_206933.3(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640
NM_206933.3(USH2A):c.12612= (p.Thr4204=) rs2797235
NM_206933.3(USH2A):c.12612G>A (p.Thr4204=) rs2797235
NM_206933.3(USH2A):c.12624C>A (p.Asp4208Glu) rs375223901
NM_206933.3(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290
NM_206933.3(USH2A):c.12633T>G (p.Ile4211Met) rs727503716
NM_206933.3(USH2A):c.12666A>G (p.Thr4222=) rs2797234
NM_206933.3(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847
NM_206933.3(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.3(USH2A):c.12714T>G (p.Tyr4238Ter) rs397517981
NM_206933.3(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982
NM_206933.3(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.3(USH2A):c.12817T>C (p.Tyr4273His) rs79654794
NM_206933.3(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917
NM_206933.3(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.3(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.3(USH2A):c.12877G>A (p.Gly4293Ser) rs727505117
NM_206933.3(USH2A):c.12883A>G (p.Ile4295Val) rs137868043
NM_206933.3(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.3(USH2A):c.13022G>T (p.Cys4341Phe) rs397517985
NM_206933.3(USH2A):c.13097C>T (p.Ala4366Val) rs727505097
NM_206933.3(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.3(USH2A):c.13134G>T (p.Pro4378=) rs148975669
NM_206933.3(USH2A):c.13191G>A (p.Glu4397=) rs2009923
NM_206933.3(USH2A):c.13202G>T (p.Gly4401Val) rs763576540
NM_206933.3(USH2A):c.13222G>A (p.Val4408Ile) rs111033500
NM_206933.3(USH2A):c.13238C>G (p.Pro4413Arg) rs1553252404
NM_206933.3(USH2A):c.13297G>T (p.Val4433Leu) rs111033381
NM_206933.3(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) rs148033154
NM_206933.3(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.3(USH2A):c.13386C>T (p.Ile4462=) rs187707339
NM_206933.3(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.3(USH2A):c.13404A>G (p.Arg4468=) rs146994147
NM_206933.3(USH2A):c.13440G>A (p.Arg4480=) rs111033378
NM_206933.3(USH2A):c.13478G>A (p.Arg4493His) rs138879998
NM_206933.3(USH2A):c.13622A>C (p.Gln4541Pro) rs143032902
NM_206933.3(USH2A):c.13704C>T (p.Phe4568=) rs397517986
NM_206933.3(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.3(USH2A):c.13711G>T (p.Glu4571Ter) rs751411512
NM_206933.3(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805
NM_206933.3(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373
NM_206933.3(USH2A):c.13775A>G (p.Gln4592Arg) rs201864716
NM_206933.3(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.3(USH2A):c.13808A>G (p.His4603Arg) rs727504551
NM_206933.3(USH2A):c.13857A>G (p.Ser4619=) rs373694614
NM_206933.3(USH2A):c.13984C>G (p.Gln4662Glu) rs41302237
NM_206933.3(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987
NM_206933.3(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.3(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.3(USH2A):c.14100C>T (p.Ser4700=) rs778162193
NM_206933.3(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682
NM_206933.3(USH2A):c.14108T>C (p.Leu4703Ser) rs369513607
NM_206933.3(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.3(USH2A):c.14184C>T (p.Cys4728=) rs200934092
NM_206933.3(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752
NM_206933.3(USH2A):c.1419C>T (p.Thr473=) rs1805050
NM_206933.3(USH2A):c.14226G>A (p.Thr4742=) rs78576418
NM_206933.3(USH2A):c.14248C>T (p.Gln4750Ter) rs727504867
NM_206933.3(USH2A):c.14254G>A (p.Val4752Met) rs770161970
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.3(USH2A):c.14315C>T (p.Ser4772Phe) rs149222801
NM_206933.3(USH2A):c.14322C>T (p.Ser4774=) rs147037435
NM_206933.3(USH2A):c.14332G>T (p.Ala4778Ser) rs727504637
NM_206933.3(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586
NM_206933.3(USH2A):c.1434G>C (p.Glu478Asp) rs35730265
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
NM_206933.3(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549
NM_206933.3(USH2A):c.14454G>A (p.Pro4818=) rs137902779
NM_206933.3(USH2A):c.14481C>T (p.Ala4827=) rs41304083
NM_206933.3(USH2A):c.1448C>T (p.Thr483Met) rs201847741
NM_206933.3(USH2A):c.14511C>T (p.Ile4837=) rs139847770
NM_206933.3(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.3(USH2A):c.14516C>T (p.Thr4839Met) rs139065588
NM_206933.3(USH2A):c.14517G>A (p.Thr4839=) rs397517991
NM_206933.3(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.3(USH2A):c.14531C>T (p.Thr4844Met) rs200570742
NM_206933.3(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159
NM_206933.3(USH2A):c.14602G>A (p.Val4868Met) rs727504686
NM_206933.3(USH2A):c.14662A>T (p.Thr4888Ser) rs200993435
NM_206933.3(USH2A):c.14664G>A (p.Thr4888=) rs111033525
NM_206933.3(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.3(USH2A):c.14754G>A (p.Thr4918=) rs150286388
NM_206933.3(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.3(USH2A):c.14817G>A (p.Ser4939=) rs397517992
NM_206933.3(USH2A):c.1486A>C (p.Thr496Pro) rs145114473
NM_206933.3(USH2A):c.14901C>T (p.Thr4967=) rs397517993
NM_206933.3(USH2A):c.14902G>A (p.Asp4968Asn) rs764124390
NM_206933.3(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994
NM_206933.3(USH2A):c.14928C>G (p.Gly4976=) rs397517995
NM_206933.3(USH2A):c.14960C>T (p.Ala4987Val) rs111033498
NM_206933.3(USH2A):c.14986A>T (p.Ile4996Phe) rs41308423
NM_206933.3(USH2A):c.15038C>T (p.Thr5013Ile) rs397517996
NM_206933.3(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435
NM_206933.3(USH2A):c.15090G>A (p.Ser5030=) rs397517997
NM_206933.3(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610
NM_206933.3(USH2A):c.15102C>T (p.Ser5034=) rs147916810
NM_206933.3(USH2A):c.15105A>C (p.Thr5035=) rs762610249
NM_206933.3(USH2A):c.15144G>A (p.Ala5048=) rs397517998
NM_206933.3(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.3(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714
NM_206933.3(USH2A):c.15297+3A>G rs57754754
NM_206933.3(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.3(USH2A):c.15321C>T (p.Pro5107=) rs397518000
NM_206933.3(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.3(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402
NM_206933.3(USH2A):c.15374G>A (p.Arg5125His) rs189729452
NM_206933.3(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266
NM_206933.3(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342
NM_206933.3(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15496A>G (p.Ile5166Val) rs111033419
NM_206933.3(USH2A):c.1550+10T>C rs200728788
NM_206933.3(USH2A):c.15501G>A (p.Met5167Ile) rs397518001
NM_206933.3(USH2A):c.15522T>C (p.Tyr5174=) rs77792891
NM_206933.3(USH2A):c.15526G>A (p.Asp5176Asn) rs774383785
NM_206933.3(USH2A):c.15546C>T (p.Asn5182=) rs546494522
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972
NM_206933.3(USH2A):c.1556A>G (p.Gln519Arg) rs199672621
NM_206933.3(USH2A):c.15581G>A (p.Arg5194His) rs727505155
NM_206933.3(USH2A):c.1581C>T (p.Cys527=) rs140331348
NM_206933.3(USH2A):c.1582G>A (p.Asp528Asn) rs551424240
NM_206933.3(USH2A):c.1590A>T (p.Thr530=) rs144343161
NM_206933.3(USH2A):c.1601A>G (p.Tyr534Cys) rs570446209
NM_206933.3(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.3(USH2A):c.1608C>T (p.Cys536=) rs187380128
NM_206933.3(USH2A):c.1623G>A (p.Glu541=) rs146805130
NM_206933.3(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.3(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.3(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.3(USH2A):c.1731C>T (p.Cys577=) rs41313732
NM_206933.3(USH2A):c.1784T>C (p.Phe595Ser) rs200496467
NM_206933.3(USH2A):c.1799G>C (p.Gly600Ala) rs772955674
NM_206933.3(USH2A):c.1803del (p.Gly602fs) rs1553327452
NM_206933.3(USH2A):c.1816G>C (p.Asp606His) rs111033410
NM_206933.3(USH2A):c.182C>A (p.Pro61Gln) rs938662688
NM_206933.3(USH2A):c.1841-2A>G rs397518003
NM_206933.3(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.3(USH2A):c.1877G>A (p.Arg626Gln) rs192524347
NM_206933.3(USH2A):c.1931A>T (p.Asp644Val) rs1805048
NM_206933.3(USH2A):c.1934C>T (p.Thr645Ile) rs397518004
NM_206933.3(USH2A):c.1942A>G (p.Thr648Ala) rs1239032275
NM_206933.3(USH2A):c.1954A>G (p.Ser652Gly) rs397518005
NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.3(USH2A):c.1992dup (p.Lys665Ter) rs730880349
NM_206933.3(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.3(USH2A):c.2007T>A (p.Ser669=) rs876657625
NM_206933.3(USH2A):c.2052A>G (p.Gln684=) rs111033248
NM_206933.3(USH2A):c.2094C>T (p.Thr698=) rs141489104
NM_206933.3(USH2A):c.2109T>C (p.Asp703=) rs45555435
NM_206933.3(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.3(USH2A):c.2167+11C>T rs139647897
NM_206933.3(USH2A):c.2167+4C>T rs200638562
NM_206933.3(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.3(USH2A):c.2228G>T (p.Gly743Val) rs727504638
NM_206933.3(USH2A):c.2256T>C (p.His752=) rs111033281
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216
NM_206933.3(USH2A):c.2479A>C (p.Asn827His) rs876658114
NM_206933.3(USH2A):c.2510G>A (p.Arg837Gln) rs148594393
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2541C>A (p.Cys847Ter) rs727503736
NM_206933.3(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) rs767078782
NM_206933.3(USH2A):c.2633G>A (p.Arg878His) rs200124505
NM_206933.3(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.3(USH2A):c.2732C>A (p.Thr911Asn) rs397518006
NM_206933.3(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.3(USH2A):c.2777G>A (p.Arg926His) rs146916397
NM_206933.3(USH2A):c.2809+2T>A rs1553320397
NM_206933.3(USH2A):c.2829C>A (p.Gly943=) rs397518007
NM_206933.3(USH2A):c.2880T>C (p.Asn960=) rs151177516
NM_206933.3(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.3(USH2A):c.2989G>A (p.Gly997Arg) rs397518009
NM_206933.3(USH2A):c.3043C>T (p.His1015Tyr) rs142302070
NM_206933.3(USH2A):c.3045C>G (p.His1015Gln) rs541918040
NM_206933.3(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.3(USH2A):c.3139C>G (p.Leu1047Val) rs727503735
NM_206933.3(USH2A):c.313C>T (p.Leu105Phe) rs375083165
NM_206933.3(USH2A):c.3158-6A>G rs397518010
NM_206933.3(USH2A):c.3158-7A>G rs201558076
NM_206933.3(USH2A):c.3170A>G (p.Gln1057Arg) rs111033377
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3241A>G (p.Asn1081Asp) rs1553315006
NM_206933.3(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011
NM_206933.3(USH2A):c.3351A>G (p.Pro1117=) rs946318077
NM_206933.3(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241
NM_206933.3(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189
NM_206933.3(USH2A):c.3405G>C (p.Arg1135Ser) rs372843685
NM_206933.3(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.3(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_206933.3(USH2A):c.3493G>C (p.Val1165Leu) rs727503734
NM_206933.3(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
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.3584G>T (p.Cys1195Phe) rs727504652
NM_206933.3(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_206933.3(USH2A):c.3648C>T (p.Tyr1216=) rs147947402
NM_206933.3(USH2A):c.3649G>A (p.Asp1217Asn) rs202247801
NM_206933.3(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
NM_206933.3(USH2A):c.373G>A (p.Ala125Thr) rs10779261
NM_206933.3(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_206933.3(USH2A):c.3811+10C>A rs769756794
NM_206933.3(USH2A):c.3812-8T>G rs646094
NM_206933.3(USH2A):c.3942A>G (p.Glu1314=) rs876657626
NM_206933.3(USH2A):c.3945T>C (p.Asn1315=) rs41303257
NM_206933.3(USH2A):c.4002G>A (p.Lys1334=) rs727503733
NM_206933.3(USH2A):c.4030A>G (p.Met1344Val) rs727503732
NM_206933.3(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.3(USH2A):c.4129_4130TC[4] (p.Asn1379fs) rs397518015
NM_206933.3(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.3(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.3(USH2A):c.4313G>A (p.Arg1438Lys) rs876657627
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) rs111033367
NM_206933.3(USH2A):c.4335T>C (p.Thr1445=) rs397518016
NM_206933.3(USH2A):c.4371G>A (p.Ser1457=) rs56013136
NM_206933.3(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927
NM_206933.3(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.3(USH2A):c.4440C>T (p.Ser1480=) rs111632670
NM_206933.3(USH2A):c.4457= (p.Lys1486=) rs1805049
NM_206933.3(USH2A):c.4457A>G (p.Lys1486Arg) rs1805049
NM_206933.3(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.3(USH2A):c.4532C>T (p.Ala1511Val) rs201710470
NM_206933.3(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082
NM_206933.3(USH2A):c.4559T>A (p.Ile1520Asn) rs727503730
NM_206933.3(USH2A):c.4560C>T (p.Ile1520=) rs148000219
NM_206933.3(USH2A):c.4578G>T (p.Gly1526=) rs147560504
NM_206933.3(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.3(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165
NM_206933.3(USH2A):c.4646G>A (p.Arg1549Gln) rs190170807
NM_206933.3(USH2A):c.4668G>A (p.Leu1556=) rs727503729
NM_206933.3(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.3(USH2A):c.4744C>T (p.Leu1582Phe) rs866592573
NM_206933.3(USH2A):c.4758+3A>G rs117798425
NM_206933.3(USH2A):c.478G>A (p.Gly160Ser) rs111033479
NM_206933.3(USH2A):c.4837A>G (p.Ile1613Val) rs397518017
NM_206933.3(USH2A):c.485+12T>C rs201857884
NM_206933.3(USH2A):c.486-13G>A rs116367260
NM_206933.3(USH2A):c.486-15C>T rs114194722
NM_206933.3(USH2A):c.486-1G>C rs876657730
NM_206933.3(USH2A):c.504A>G (p.Thr168=) rs4253963
NM_206933.3(USH2A):c.573A>G (p.Val191=) rs73102592
NM_206933.3(USH2A):c.5858-12A>G rs727503727
NM_206933.3(USH2A):c.5858-1G>A rs397518023
NM_206933.3(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.3(USH2A):c.586C>T (p.Pro196Ser) rs756041909
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
NM_206933.3(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.3(USH2A):c.5993G>A (p.Arg1998His) rs143624066
NM_206933.3(USH2A):c.6001C>T (p.Arg2001Cys) rs141539554
NM_206933.3(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884
NM_206933.3(USH2A):c.6043C>T (p.Leu2015Phe) rs370597096
NM_206933.3(USH2A):c.6050G>A (p.Gly2017Asp) rs397518024
NM_206933.3(USH2A):c.6077A>G (p.Lys2026Arg) rs115039883
NM_206933.3(USH2A):c.6087A>T (p.Ala2029=) rs727503726
NM_206933.3(USH2A):c.6114T>C (p.Ala2038=) rs1052386893
NM_206933.3(USH2A):c.6134A>G (p.His2045Arg) rs111033514
NM_206933.3(USH2A):c.6141G>A (p.Leu2047=) rs727505165
NM_206933.3(USH2A):c.6186A>C (p.Pro2062=) rs200247886
NM_206933.3(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386
NM_206933.3(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.3(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836
NM_206933.3(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.3(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379
NM_206933.3(USH2A):c.6270A>G (p.Leu2090=) rs56245532
NM_206933.3(USH2A):c.627G>A (p.Lys209=) rs146402815
NM_206933.3(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.3(USH2A):c.6317= (p.Thr2106=) rs6657250
NM_206933.3(USH2A):c.6317C>T (p.Thr2106Ile) rs6657250
NM_206933.3(USH2A):c.6325+13G>A rs368490585
NM_206933.3(USH2A):c.632G>A (p.Trp211Ter) rs727504893
NM_206933.3(USH2A):c.6347A>G (p.His2116Arg) rs111033450
NM_206933.3(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231
NM_206933.3(USH2A):c.6369C>T (p.Cys2123=) rs111033472
NM_206933.3(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.3(USH2A):c.6486G>A (p.Gln2162=) rs397518025
NM_206933.3(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724
NM_206933.3(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219
NM_206933.3(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.3(USH2A):c.6513G>C (p.Gly2171=) rs876657629
NM_206933.3(USH2A):c.652-9T>G rs1231791432
NM_206933.3(USH2A):c.6524G>A (p.Arg2175His) rs140845899
NM_206933.3(USH2A):c.6537T>C (p.Tyr2179=) rs768759268
NM_206933.3(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.3(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.3(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516
NM_206933.3(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302
NM_206933.3(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117
NM_206933.3(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090
NM_206933.3(USH2A):c.6639del (p.Lys2213fs) rs876657732
NM_206933.3(USH2A):c.6683T>A (p.Val2228Glu) rs117461552
NM_206933.3(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.3(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212
NM_206933.3(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.3(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.3(USH2A):c.6765C>T (p.Asp2255=) rs767205760
NM_206933.3(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.3(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027
NM_206933.3(USH2A):c.6805+6T>A rs746355792
NM_206933.3(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.3(USH2A):c.6875G>A (p.Arg2292His) rs41277210
NM_206933.3(USH2A):c.687C>A (p.Gly229=) rs766740504
NM_206933.3(USH2A):c.6882C>T (p.Tyr2294=) rs147615382
NM_206933.3(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909
NM_206933.3(USH2A):c.688G>A (p.Val230Met) rs45500891
NM_206933.3(USH2A):c.6924A>G (p.Ala2308=) rs148504065
NM_206933.3(USH2A):c.6958-5C>T rs147914083
NM_206933.3(USH2A):c.6969A>C (p.Arg2323=) rs397518028
NM_206933.3(USH2A):c.6998T>C (p.Val2333Ala) rs144817385
NM_206933.3(USH2A):c.7038C>T (p.His2346=) rs145718407
NM_206933.3(USH2A):c.7039G>A (p.Val2347Met) rs727503721
NM_206933.3(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508
NM_206933.3(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092
NM_206933.3(USH2A):c.706C>A (p.Pro236Thr) rs762558966
NM_206933.3(USH2A):c.7121-14del rs536181325
NM_206933.3(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.3(USH2A):c.7160T>C (p.Met2387Thr) rs115015305
NM_206933.3(USH2A):c.7244C>G (p.Ser2415Ter) rs397518029
NM_206933.3(USH2A):c.7301-6C>T rs375499259
NM_206933.3(USH2A):c.7303C>A (p.Pro2435Thr) rs727503720
NM_206933.3(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.3(USH2A):c.7436C>T (p.Thr2479Ile) rs876658115
NM_206933.3(USH2A):c.7451+3G>A rs397518030
NM_206933.3(USH2A):c.7452G>T (p.Glu2484Asp) rs397518031
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747
NM_206933.3(USH2A):c.7506G>A (p.Pro2502=) rs12404427
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.3(USH2A):c.7584C>T (p.Thr2528=) rs78250390
NM_206933.3(USH2A):c.7617G>A (p.Pro2539=) rs773159617
NM_206933.3(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266
NM_206933.3(USH2A):c.7684G>T (p.Val2562Phe) rs397518033
NM_206933.3(USH2A):c.7685T>C (p.Val2562Ala) rs56385601
NM_206933.3(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_206933.3(USH2A):c.7719T>C (p.Arg2573=) rs143683292
NM_206933.3(USH2A):c.7844A>G (p.Gln2615Arg) rs397518032
NM_206933.3(USH2A):c.785-16_785-15del rs150209313
NM_206933.3(USH2A):c.78T>C (p.Ala26=) rs59139861
NM_206933.3(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.3(USH2A):c.8098G>A (p.Val2700Ile) rs778655083
NM_206933.3(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034
NM_206933.3(USH2A):c.8177G>A (p.Gly2726Glu) rs549796389
NM_206933.3(USH2A):c.8200G>A (p.Val2734Met) rs397518035
NM_206933.3(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.3(USH2A):c.821G>A (p.Arg274Gln) rs727504721
NM_206933.3(USH2A):c.8244C>T (p.Leu2748=) rs111033506
NM_206933.3(USH2A):c.8265T>C (p.Leu2755=) rs727505274
NM_206933.3(USH2A):c.8315C>T (p.Thr2772Ile) rs150807452
NM_206933.3(USH2A):c.8319C>T (p.Ser2773=) rs56829872
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.3(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_206933.3(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262
NM_206933.3(USH2A):c.8392G>A (p.Gly2798Arg) rs397518037
NM_206933.3(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529
NM_206933.3(USH2A):c.8457C>T (p.Thr2819=) rs369778429
NM_206933.3(USH2A):c.8458G>A (p.Val2820Ile) rs59174500
NM_206933.3(USH2A):c.848+5G>C rs74329863
NM_206933.3(USH2A):c.8499T>C (p.Ser2833=) rs753719500
NM_206933.3(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.3(USH2A):c.8558+40C>A rs55713064
NM_206933.3(USH2A):c.8559-2A>G rs397518039
NM_206933.3(USH2A):c.8559-7G>A rs199618999
NM_206933.3(USH2A):c.8575C>T (p.Arg2859Cys) rs138087806
NM_206933.3(USH2A):c.8576G>A (p.Arg2859His) rs778272177
NM_206933.3(USH2A):c.8600C>T (p.Ser2867Leu) rs145468090
NM_206933.3(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814
NM_206933.3(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200
NM_206933.3(USH2A):c.8681+1G>A rs876657733
NM_206933.3(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.3(USH2A):c.870T>A (p.Ser290=) rs876657630
NM_206933.3(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491
NM_206933.3(USH2A):c.879T>G (p.Leu293=) rs3767698
NM_206933.3(USH2A):c.8805C>T (p.Val2935=) rs111033534
NM_206933.3(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.3(USH2A):c.8845+9G>C rs748060796
NM_206933.3(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390
NM_206933.3(USH2A):c.8937A>G (p.Val2979=) rs139100097
NM_206933.3(USH2A):c.897A>G (p.Gln299=) rs201062965
NM_206933.3(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.3(USH2A):c.8993C>G (p.Ser2998Cys) rs559922535
NM_206933.3(USH2A):c.9071T>A (p.Leu3024His) rs111033456
NM_206933.3(USH2A):c.9089T>C (p.Ile3030Thr) rs876658116
NM_206933.3(USH2A):c.9110G>A (p.Arg3037His) rs533700989
NM_206933.3(USH2A):c.9159T>G (p.Tyr3053Ter) rs397518042
NM_206933.3(USH2A):c.9203T>C (p.Val3068Ala) rs146445078
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.3(USH2A):c.9213G>A (p.Ser3071=) rs111033397
NM_206933.3(USH2A):c.9240C>A (p.Phe3080Leu) rs397518044
NM_206933.3(USH2A):c.9258+15T>C rs181894778
NM_206933.3(USH2A):c.9259-14A>C rs561590242
NM_206933.3(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328
NM_206933.3(USH2A):c.9278A>T (p.Tyr3093Phe) rs397518045
NM_206933.3(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194
NM_206933.3(USH2A):c.9304C>T (p.Gln3102Ter) rs397518046
NM_206933.3(USH2A):c.9307A>G (p.Ile3103Val) rs143352618
NM_206933.3(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654
NM_206933.3(USH2A):c.9342A>G (p.Pro3114=) rs181961185
NM_206933.3(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526
NM_206933.3(USH2A):c.9371+1G>C rs41308425
NM_206933.3(USH2A):c.938C>A (p.Pro313His) rs397518047
NM_206933.3(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144
NM_206933.3(USH2A):c.9402G>A (p.Arg3134=) rs876657631
NM_206933.3(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.3(USH2A):c.9430G>A (p.Asp3144Asn) rs11120645
NM_206933.3(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.3(USH2A):c.9459C>T (p.Cys3153=) rs73090721
NM_206933.3(USH2A):c.9495T>C (p.Asp3165=) rs41305094
NM_206933.3(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.3(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.3(USH2A):c.9570+1G>A rs760225886
NM_206933.3(USH2A):c.9595A>G (p.Asn3199Asp) rs4129843
NM_206933.3(USH2A):c.9621T>C (p.Cys3207=) rs727505296
NM_206933.3(USH2A):c.9636C>T (p.Ile3212=) rs397518049
NM_206933.3(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000
NM_206933.3(USH2A):c.9723C>T (p.Tyr3241=) rs6660707
NM_206933.3(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
NM_206933.3(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654
NM_206933.3(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813
NM_206933.3(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250
NM_206933.3(USH2A):c.9917G>A (p.Cys3306Tyr) rs758614136
NM_206933.3(USH2A):c.9956C>T (p.Pro3319Leu) rs761386458
NM_206933.3(USH2A):c.9959-11T>G rs116150014
NM_206933.3(USH2A):c.9975G>A (p.Gly3325=) rs188093326
NM_206933.3(USH2A):c.9989A>T (p.Asn3330Ile) rs397518050

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