ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome type 2

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 770
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HGVS dbSNP
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) rs368026275
NM_007123.5(USH2A):c.*1077T>C rs886045945
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.*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.-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.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.1586_1588CAA[1] (p.Thr530del) rs1553250409
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.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.313_321del (p.Leu105_Ser107del) rs1396847135
NM_007123.5(USH2A):c.3157+12C>T rs199853422
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.3342C>T (p.Asp1114=) rs755765979
NM_007123.5(USH2A):c.3489C>T (p.Asp1163=) rs139156019
NM_007123.5(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_007123.5(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_007123.5(USH2A):c.3969G>A (p.Met1323Ile) rs886045953
NM_007123.5(USH2A):c.415_417CCT[1] (p.Pro140del) rs773595155
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.586C>T (p.Pro196Ser) rs756041909
NM_007123.5(USH2A):c.651+15A>G rs765252898
NM_007123.5(USH2A):c.849-4A>G rs765189933
NM_007123.5(USH2A):c.950G>A (p.Arg317Gln) rs760741238
NM_015404.4(WHRN):c.*126C>A
NM_015404.4(WHRN):c.*149A>G rs563858014
NM_015404.4(WHRN):c.*156G>A rs567661962
NM_015404.4(WHRN):c.*175C>T
NM_015404.4(WHRN):c.*187A>G rs779279060
NM_015404.4(WHRN):c.*188A>T rs549537695
NM_015404.4(WHRN):c.*339C>A
NM_015404.4(WHRN):c.*357C>G rs886063368
NM_015404.4(WHRN):c.*495T>C
NM_015404.4(WHRN):c.*554C>T rs886063367
NM_015404.4(WHRN):c.*583C>T
NM_015404.4(WHRN):c.*613A>G
NM_015404.4(WHRN):c.*633T>C rs886063366
NM_015404.4(WHRN):c.-23C>G rs770413185
NM_015404.4(WHRN):c.-269C>A rs551952938
NM_015404.4(WHRN):c.-305C>T
NM_015404.4(WHRN):c.-310G>T
NM_015404.4(WHRN):c.-483G>A rs886063374
NM_015404.4(WHRN):c.-499G>A rs886063375
NM_015404.4(WHRN):c.-505C>T
NM_015404.4(WHRN):c.-517C>T rs886063376
NM_015404.4(WHRN):c.-570C>G
NM_015404.4(WHRN):c.-581C>T rs886063377
NM_015404.4(WHRN):c.-583C>T rs755158483
NM_015404.4(WHRN):c.-595G>A
NM_015404.4(WHRN):c.-92C>T
NM_015404.4(WHRN):c.1014A>G (p.Leu338=) rs886063373
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn)
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) rs147500559
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159
NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu) rs763451514
NM_015404.4(WHRN):c.1161G>A (p.Ser387=) rs201105262
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu)
NM_015404.4(WHRN):c.1227C>T (p.Ala409=) rs758129253
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) rs150407952
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys) rs45530335
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) rs200377723
NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg) rs886063372
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile) rs373389359
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) rs144878400
NM_015404.4(WHRN):c.1389G>T (p.Leu463=)
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746
NM_015404.4(WHRN):c.1555A>G (p.Met519Val)
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135
NM_015404.4(WHRN):c.1626+8T>G rs547616329
NM_015404.4(WHRN):c.1627-5T>A rs187221008
NM_015404.4(WHRN):c.1627-7T>G
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro) rs775066754
NM_015404.4(WHRN):c.1683C>T (p.Leu561=) rs886063371
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val) rs141168514
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr)
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362
NM_015404.4(WHRN):c.1929G>A (p.Gln643=)
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) rs201690920
NM_015404.4(WHRN):c.2130C>A (p.Gly710=) rs781674400
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln) rs376805417
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met)
NM_015404.4(WHRN):c.2234G>A (p.Arg745His)
NM_015404.4(WHRN):c.2237-10C>G rs200131193
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val) rs751455932
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) rs768714315
NM_015404.4(WHRN):c.2322C>T (p.Ser774=) rs55966714
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu) rs886063370
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp) rs545286422
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650
NM_015404.4(WHRN):c.2419-5C>T
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) rs569112844
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys)
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_015404.4(WHRN):c.2612C>T (p.Thr871Met)
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln)
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr)
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu)
NM_015404.4(WHRN):c.324A>G (p.Gln108=)
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) rs572312301
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543
NM_015404.4(WHRN):c.549G>A (p.Arg183=) rs147477922
NM_015404.4(WHRN):c.680G>T (p.Gly227Val)
NM_015404.4(WHRN):c.684C>T (p.Tyr228=)
NM_015404.4(WHRN):c.690C>T (p.Thr230=) rs779112096
NM_015404.4(WHRN):c.695A>C (p.His232Pro)
NM_015404.4(WHRN):c.762C>T (p.His254=)
NM_015404.4(WHRN):c.837+5G>C rs201863779
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) rs143165834
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) rs780855079
NM_032119.4(ADGRV1):c.*101T>C
NM_032119.4(ADGRV1):c.*124C>T
NM_032119.4(ADGRV1):c.*17C>T
NM_032119.4(ADGRV1):c.*18G>C
NM_032119.4(ADGRV1):c.*193G>A
NM_032119.4(ADGRV1):c.*259A>G
NM_032119.4(ADGRV1):c.*270C>A
NM_032119.4(ADGRV1):c.-44C>T rs192362302
NM_032119.4(ADGRV1):c.10053+9A>G
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044
NM_032119.4(ADGRV1):c.10267A>G (p.Ile3423Val)
NM_032119.4(ADGRV1):c.10308A>T (p.Arg3436Ser)
NM_032119.4(ADGRV1):c.10362A>G (p.Thr3454=)
NM_032119.4(ADGRV1):c.10440A>T (p.Ser3480=)
NM_032119.4(ADGRV1):c.10517G>A (p.Arg3506Lys)
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=) rs201475256
NM_032119.4(ADGRV1):c.10550-7C>T rs191228562
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=) rs182626712
NM_032119.4(ADGRV1):c.1071G>A (p.Ser357=) rs756805245
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys) rs778286042
NM_032119.4(ADGRV1):c.10820T>C (p.Val3607Ala)
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=) rs200435877
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile)
NM_032119.4(ADGRV1):c.11457A>G (p.Gln3819=)
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu) rs759908554
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=) rs201453118
NM_032119.4(ADGRV1):c.11760C>T (p.Gly3920=)
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) rs200576500
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892
NM_032119.4(ADGRV1):c.11950A>G (p.Met3984Val)
NM_032119.4(ADGRV1):c.11954T>C (p.Ile3985Thr)
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568
NM_032119.4(ADGRV1):c.12222G>A (p.Trp4074Ter) rs1366388721
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743
NM_032119.4(ADGRV1):c.12291G>A (p.Glu4097=)
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His) rs202067248
NM_032119.4(ADGRV1):c.12356C>T (p.Thr4119Ile)
NM_032119.4(ADGRV1):c.12425G>A (p.Arg4142Gln)
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu) rs765063091
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro) rs200805176
NM_032119.4(ADGRV1):c.12479T>A (p.Ile4160Asn)
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=) rs727503080
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016
NM_032119.4(ADGRV1):c.1252A>G (p.Thr418Ala)
NM_032119.4(ADGRV1):c.12536G>A (p.Arg4179Gln)
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu) rs200957385
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser) rs397517420
NM_032119.4(ADGRV1):c.12641A>G (p.Gln4214Arg)
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004
NM_032119.4(ADGRV1):c.12786C>T (p.Ser4262=) rs201777525
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu) rs571603222
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val) rs200584854
NM_032119.4(ADGRV1):c.1317C>T (p.Ser439=) rs368171530
NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr)
NM_032119.4(ADGRV1):c.13227C>T (p.Phe4409=) rs368497021
NM_032119.4(ADGRV1):c.13293T>C (p.Tyr4431=) rs375468899
NM_032119.4(ADGRV1):c.13305T>G (p.Asp4435Glu)
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809
NM_032119.4(ADGRV1):c.13550T>C (p.Ile4517Thr)
NM_032119.4(ADGRV1):c.1367T>C (p.Leu456Pro)
NM_032119.4(ADGRV1):c.13718C>T (p.Ala4573Val)
NM_032119.4(ADGRV1):c.13722C>T (p.Asp4574=)
NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile)
NM_032119.4(ADGRV1):c.13838A>G (p.His4613Arg)
NM_032119.4(ADGRV1):c.13868C>T (p.Ser4623Phe)
NM_032119.4(ADGRV1):c.13897C>T (p.Gln4633Ter)
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val) rs765672841
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) rs199792315
NM_032119.4(ADGRV1):c.14043+7C>T rs563519322
NM_032119.4(ADGRV1):c.1419T>G (p.Asp473Glu)
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) rs61999270
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu) rs200130204
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892
NM_032119.4(ADGRV1):c.14320C>T (p.Leu4774Phe)
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln) rs534266547
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=) rs727504605
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=) rs117641264
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe) rs373391623
NM_032119.4(ADGRV1):c.14901T>C (p.Pro4967=)
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg) rs190988309
NM_032119.4(ADGRV1):c.15009C>T (p.Gly5003=)
NM_032119.4(ADGRV1):c.1510-7A>T rs182260529
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn) rs756275299
NM_032119.4(ADGRV1):c.15394G>A (p.Gly5132Arg)
NM_032119.4(ADGRV1):c.15401A>G (p.Asp5134Gly)
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) rs146082509
NM_032119.4(ADGRV1):c.15476C>T (p.Thr5159Ile)
NM_032119.4(ADGRV1):c.15496A>T (p.Thr5166Ser)
NM_032119.4(ADGRV1):c.15497C>T (p.Thr5166Met)
NM_032119.4(ADGRV1):c.15498G>A (p.Thr5166=)
NM_032119.4(ADGRV1):c.15560C>T (p.Ala5187Val)
NM_032119.4(ADGRV1):c.15583C>T (p.Leu5195Phe)
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=) rs61741955
NM_032119.4(ADGRV1):c.15697A>G (p.Met5233Val)
NM_032119.4(ADGRV1):c.1578G>T (p.Gln526His)
NM_032119.4(ADGRV1):c.15830G>A (p.Arg5277His) rs747856236
NM_032119.4(ADGRV1):c.16308C>T (p.Thr5436=)
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) rs376505416
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851
NM_032119.4(ADGRV1):c.16337G>C (p.Cys5446Ser)
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn) rs772117132
NM_032119.4(ADGRV1):c.16677T>C (p.Phe5559=)
NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile) rs201677553
NM_032119.4(ADGRV1):c.1678A>G (p.Ile560Val)
NM_032119.4(ADGRV1):c.16826A>T (p.Asp5609Val)
NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val) rs201767389
NM_032119.4(ADGRV1):c.17017A>C (p.Lys5673Gln)
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.17024C>T (p.Thr5675Ile)
NM_032119.4(ADGRV1):c.17033G>C (p.Gly5678Ala)
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys)
NM_032119.4(ADGRV1):c.1707A>C (p.Gln569His)
NM_032119.4(ADGRV1):c.170G>A (p.Arg57Lys)
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459
NM_032119.4(ADGRV1):c.17188G>T (p.Gly5730Cys)
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563
NM_032119.4(ADGRV1):c.17204+12T>C
NM_032119.4(ADGRV1):c.17204+4A>G rs376691612
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn) rs749894314
NM_032119.4(ADGRV1):c.17455-6T>C
NM_032119.4(ADGRV1):c.17460A>G (p.Leu5820=)
NM_032119.4(ADGRV1):c.17595-4C>T
NM_032119.4(ADGRV1):c.17667C>G (p.His5889Gln)
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858
NM_032119.4(ADGRV1):c.17856+11G>A rs187039736
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met) rs557989446
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu) rs200530343
NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=) rs766197164
NM_032119.4(ADGRV1):c.18153-13A>T
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met)
NM_032119.4(ADGRV1):c.18228C>T (p.Phe6076=) rs562067191
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=) rs774124713
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998
NM_032119.4(ADGRV1):c.18433-13T>C
NM_032119.4(ADGRV1):c.18479G>T (p.Cys6160Phe)
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872
NM_032119.4(ADGRV1):c.18515A>G (p.Asn6172Ser)
NM_032119.4(ADGRV1):c.18516T>C (p.Asn6172=)
NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=) rs752223599
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=) rs376904160
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612
NM_032119.4(ADGRV1):c.18610G>A (p.Gly6204Ser)
NM_032119.4(ADGRV1):c.18668A>C (p.Gln6223Pro)
NM_032119.4(ADGRV1):c.18711G>A (p.Thr6237=)
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) rs41311625
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819
NM_032119.4(ADGRV1):c.18906C>T (p.Ala6302=) rs369528456
NM_032119.4(ADGRV1):c.199A>G (p.Ile67Val)
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)
NM_032119.4(ADGRV1):c.207+3A>G rs142356935
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu) rs200897149
NM_032119.4(ADGRV1):c.2301G>T (p.Leu767Phe)
NM_032119.4(ADGRV1):c.2330A>C (p.Glu777Ala)
NM_032119.4(ADGRV1):c.2340T>C (p.Pro780=)
NM_032119.4(ADGRV1):c.2409G>T (p.Gly803=)
NM_032119.4(ADGRV1):c.2412C>T (p.Ser804=)
NM_032119.4(ADGRV1):c.2539G>A (p.Asp847Asn)
NM_032119.4(ADGRV1):c.2590G>A (p.Gly864Arg)
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp) rs200389929
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)
NM_032119.4(ADGRV1):c.2666T>C (p.Ile889Thr)
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=) rs759771981
NM_032119.4(ADGRV1):c.2769T>C (p.Phe923=)
NM_032119.4(ADGRV1):c.2833G>T (p.Gly945Trp)
NM_032119.4(ADGRV1):c.2926G>A (p.Val976Ile)
NM_032119.4(ADGRV1):c.3022+8T>C rs375286987
NM_032119.4(ADGRV1):c.3022+9G>C
NM_032119.4(ADGRV1):c.3129G>A (p.Gly1043=)
NM_032119.4(ADGRV1):c.3133G>C (p.Ala1045Pro)
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097
NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=) rs201516498
NM_032119.4(ADGRV1):c.3185T>C (p.Ile1062Thr)
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala) rs190922596
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys) rs202151375
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) rs771410054
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947
NM_032119.4(ADGRV1):c.3338C>A (p.Ala1113Asp)
NM_032119.4(ADGRV1):c.3346G>T (p.Asp1116Tyr) rs761253411
NM_032119.4(ADGRV1):c.3416+9A>G
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875
NM_032119.4(ADGRV1):c.3731T>C (p.Leu1244Ser)
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr) rs376900429
NM_032119.4(ADGRV1):c.3928A>C (p.Thr1310Pro)
NM_032119.4(ADGRV1):c.3969T>C (p.Ser1323=)
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393
NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=)
NM_032119.4(ADGRV1):c.3996A>G (p.Gly1332=)
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=) rs376636949
NM_032119.4(ADGRV1):c.409A>G (p.Ile137Val)
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val) rs1561464218
NM_032119.4(ADGRV1):c.4118C>T (p.Ala1373Val)
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=) rs111033484
NM_032119.4(ADGRV1):c.4128C>T (p.Asp1376=) rs373730163
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp) rs794727329
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys)
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898
NM_032119.4(ADGRV1):c.4378+11T>C
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) rs376401006
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886
NM_032119.4(ADGRV1):c.4556G>A (p.Gly1519Glu)
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) rs199873924
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930
NM_032119.4(ADGRV1):c.4770A>G (p.Ser1590=)
NM_032119.4(ADGRV1):c.4851T>C (p.Thr1617=)
NM_032119.4(ADGRV1):c.4878C>T (p.Asp1626=)
NM_032119.4(ADGRV1):c.4929+6C>A
NM_032119.4(ADGRV1):c.4930-13T>C
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753
NM_032119.4(ADGRV1):c.4952A>G (p.Asp1651Gly)
NM_032119.4(ADGRV1):c.4977G>A (p.Glu1659=)
NM_032119.4(ADGRV1):c.5207A>G (p.Asp1736Gly)
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553
NM_032119.4(ADGRV1):c.5265G>A (p.Ala1755=) rs189232336
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) rs200392821
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114
NM_032119.4(ADGRV1):c.5313+4A>G rs748976832
NM_032119.4(ADGRV1):c.5522G>A (p.Arg1841His)
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu) rs771317730
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg) rs200974394
NM_032119.4(ADGRV1):c.5657C>G (p.Thr1886Arg)
NM_032119.4(ADGRV1):c.5665G>A (p.Val1889Ile)
NM_032119.4(ADGRV1):c.5674C>T (p.His1892Tyr)
NM_032119.4(ADGRV1):c.5739C>T (p.Leu1913=)
NM_032119.4(ADGRV1):c.5776C>A (p.Gln1926Lys)
NM_032119.4(ADGRV1):c.5785G>A (p.Ala1929Thr)
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.5800G>C (p.Glu1934Gln)
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) rs61745496
NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val)
NM_032119.4(ADGRV1):c.6062T>C (p.Met2021Thr)
NM_032119.4(ADGRV1):c.6083C>T (p.Pro2028Leu)
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.6228C>T (p.Ile2076=) rs376325671
NM_032119.4(ADGRV1):c.6235C>T (p.Leu2079Phe)
NM_032119.4(ADGRV1):c.6313A>G (p.Ile2105Val)
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408
NM_032119.4(ADGRV1):c.6320A>C (p.Gln2107Pro) rs181475191
NM_032119.4(ADGRV1):c.6469G>A (p.Val2157Met)
NM_032119.4(ADGRV1):c.6491-10G>A
NM_032119.4(ADGRV1):c.6526T>A (p.Leu2176Met)
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_032119.4(ADGRV1):c.6599C>G (p.Ser2200Cys)
NM_032119.4(ADGRV1):c.6705T>G (p.Phe2235Leu)
NM_032119.4(ADGRV1):c.6772A>G (p.Ile2258Val)
NM_032119.4(ADGRV1):c.6795C>T (p.Leu2265=) rs760814922
NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=)
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)
NM_032119.4(ADGRV1):c.6951+13G>A rs143356203
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe) rs1338945655
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=) rs202030777
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567
NM_032119.4(ADGRV1):c.709A>C (p.Lys237Gln)
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) rs111033452
NM_032119.4(ADGRV1):c.7264C>T (p.Leu2422Phe)
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387
NM_032119.4(ADGRV1):c.7334A>G (p.Lys2445Arg)
NM_032119.4(ADGRV1):c.7464G>C (p.Arg2488Ser)
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) rs143632883
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.7527A>G (p.Gln2509=)
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) rs191036195
NM_032119.4(ADGRV1):c.7684C>A (p.Gln2562Lys)
NM_032119.4(ADGRV1):c.7702G>A (p.Val2568Ile)
NM_032119.4(ADGRV1):c.7754T>C (p.Ile2585Thr)
NM_032119.4(ADGRV1):c.777T>C (p.Asn259=) rs775845081
NM_032119.4(ADGRV1):c.7866C>T (p.Val2622=)
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) rs146526977
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794
NM_032119.4(ADGRV1):c.7892C>G (p.Ala2631Gly)
NM_032119.4(ADGRV1):c.7893T>C (p.Ala2631=)
NM_032119.4(ADGRV1):c.8034T>G (p.Thr2678=)
NM_032119.4(ADGRV1):c.8068A>G (p.Thr2690Ala)
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=)
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779
NM_032119.4(ADGRV1):c.8156-4G>A
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) rs201963060
NM_032119.4(ADGRV1):c.8169A>G (p.Gln2723=)
NM_032119.4(ADGRV1):c.8287-1G>C
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) rs751129081
NM_032119.4(ADGRV1):c.8386+12T>C
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val)
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517
NM_032119.4(ADGRV1):c.8668A>G (p.Ile2890Val)
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455
NM_032119.4(ADGRV1):c.8769T>C (p.Asn2923=)
NM_032119.4(ADGRV1):c.8778C>T (p.Tyr2926=)
NM_032119.4(ADGRV1):c.8824+10G>A rs180693049
NM_032119.4(ADGRV1):c.9143C>G (p.Thr3048Arg)
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val) rs759038879
NM_032119.4(ADGRV1):c.9182T>G (p.Ile3061Arg)
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646
NM_032119.4(ADGRV1):c.9314G>A (p.Arg3105Gln)
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219
NM_032119.4(ADGRV1):c.9448-14G>A
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) rs201089046
NM_032119.4(ADGRV1):c.961G>T (p.Asp321Tyr)
NM_032119.4(ADGRV1):c.9624-4T>A
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) rs199833843
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750
NM_032119.4(ADGRV1):c.9763G>A (p.Val3255Met)
NM_032119.4(ADGRV1):c.9765G>A (p.Val3255=)
NM_032119.4(ADGRV1):c.9992A>G (p.Asn3331Ser)
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln) rs758303489
NM_206933.3(USH2A):c.10151C>A (p.Ser3384Tyr) rs553202000
NM_206933.3(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
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.10559A>G (p.Asn3520Ser) rs777043718
NM_206933.3(USH2A):c.10634G>A (p.Arg3545Gln) rs375978706
NM_206933.3(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
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.11096_11098del (p.Glu3699_Leu3700delinsVal) rs1553259182
NM_206933.3(USH2A):c.11390-2del rs760100733
NM_206933.3(USH2A):c.1142A>G (p.Gln381Arg) rs1553250774
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.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.3(USH2A):c.11687_11689TCA[2] (p.Ile3898del) rs727504714
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
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.12268C>A (p.Pro4090Thr) rs780893919
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.12580T>C (p.Cys4194Arg) rs769001387
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.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.3(USH2A):c.1316T>C (p.Leu439Pro) rs1558038097
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
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.13664C>T (p.Pro4555Leu) rs772415448
NM_206933.3(USH2A):c.13665_13667dup (p.Val4556dup) rs1553252347
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.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.3(USH2A):c.1397G>T (p.Gly466Val) rs1553250627
NM_206933.3(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329
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.14384T>G (p.Leu4795Arg) rs199851839
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.14914C>T (p.Arg4972Cys) rs766759858
NM_206933.3(USH2A):c.14970_14972CTT[1] (p.Phe4993del) rs1553249310
NM_206933.3(USH2A):c.14995A>G (p.Thr4999Ala) rs1553249303
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.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.15298-18_15301dup rs1553248238
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.1541T>C (p.Ile514Thr) rs768813865
NM_206933.3(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590
NM_206933.3(USH2A):c.15577G>T (p.Glu5193Ter) rs1365989569
NM_206933.3(USH2A):c.15577del (p.Glu5193fs) rs1553313073
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>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.1A>G (p.Met1Val) rs924627806
NM_206933.3(USH2A):c.206G>T (p.Ser69Ile) rs377254440
NM_206933.3(USH2A):c.232T>G (p.Phe78Val) rs775094277
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
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.2802T>G (p.Cys934Trp) rs201527662
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.3176C>T (p.Pro1059Leu) rs547581739
NM_206933.3(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677
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.3884G>A (p.Arg1295Gln) rs372993160
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.419C>A (p.Pro140His) rs759474177
NM_206933.3(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.3(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812
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.4679C>A (p.Ala1560Glu) rs1388648004
NM_206933.3(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651
NM_206933.3(USH2A):c.5051C>T (p.Pro1684Leu) rs771088957
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.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414
NM_206933.3(USH2A):c.5454_5455insAGAAATGGA (p.Leu1819_Met1820insArgAsnGly) rs1553299065
NM_206933.3(USH2A):c.5561_5572+7dup rs1553299014
NM_206933.3(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.3(USH2A):c.5666A>G (p.Asp1889Gly) rs775803174
NM_206933.3(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291
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.6325G>A (p.Asp2109Asn) rs759545289
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6709G>T (p.Asp2237Tyr) rs1177455978
NM_206933.3(USH2A):c.6815C>T (p.Thr2272Met) rs776972526
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.7000A>G (p.Asn2334Asp) rs201281141
NM_206933.3(USH2A):c.7061G>A (p.Arg2354His) rs201386640
NM_206933.3(USH2A):c.7156G>T (p.Val2386Phe) rs199825458
NM_206933.3(USH2A):c.7342C>G (p.Pro2448Ala) rs1553274535
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.7616C>T (p.Pro2539Leu) rs147333637
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.8063C>T (p.Ser2688Phe) rs1205473124
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.8212G>A (p.Asp2738Asn) rs750687826
NM_206933.3(USH2A):c.8262_8264del (p.Leu2755del) rs1553272199
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.3(USH2A):c.8682-17A>G rs1553271011
NM_206933.3(USH2A):c.8693A>C (p.Tyr2898Ser) rs1553270997
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.9014G>C (p.Ser3005Thr) rs1553268568
NM_206933.3(USH2A):c.9041C>A (p.Thr3014Asn) rs144892841
NM_206933.3(USH2A):c.9086_9088TCA[2] (p.Ile3031del) rs764038940
NM_206933.3(USH2A):c.9127_9129del (p.Pro3043del) rs760448755
NM_206933.3(USH2A):c.920G>T (p.Ser307Ile) rs1553250805
NM_206933.3(USH2A):c.9258G>T (p.Gln3086His) rs1380261595
NM_206933.3(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) rs773379163
NM_206933.3(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830
NM_206933.3(USH2A):c.9413G>A (p.Gly3138Asp) rs756163056
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.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.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.10517C>T (p.Thr3506Met) rs397517966
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.1069A>G (p.Asn357Asp)
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.11464T>C (p.Ser3822Pro)
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
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.11928G>A (p.Thr3976=) rs55961436
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322
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.12362G>A (p.Arg4121His) rs397517980
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847
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.13259C>T (p.Ser4420Phe) rs146240320
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu)
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser) rs369513607
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met) rs201847741
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn) rs764124390
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.15496A>G (p.Ile5166Val) rs111033419
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.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.184G>A (p.Asp62Asn)
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
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.2167+11C>T rs139647897
NM_206933.4(USH2A):c.2167+4C>T rs200638562
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.264C>G (p.Cys88Trp) rs368798834
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.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734
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.3801G>A (p.Ala1267=) rs537863698
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu)
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser)
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+343A>G
NM_206933.4(USH2A):c.4627+36C>T
NM_206933.4(USH2A):c.4627+442C>G
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+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.4837A>G (p.Ile1613Val) rs397518017
NM_206933.4(USH2A):c.485+12T>C rs201857884
NM_206933.4(USH2A):c.486-15C>T rs114194722
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) rs529355834
NM_206933.4(USH2A):c.5858-12A>G rs727503727
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) rs370597096
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724
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.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
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.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.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.821G>A (p.Arg274Gln) rs727504721
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.854T>C (p.Ile285Thr) rs397518038
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698
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.9842G>T (p.Cys3281Phe) rs727504654
Single allele

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